Articoli di riviste: "Inborn groups of people"

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Bac, Aneta, Aleksandra Kulis, Edyta Janus, Paulina Aleksander-Szymanowicz, Wojciech Dobrowolski e Katarzyna Filar-Mierzwa. "Familiarity with occupational therapy among secondary school youths planning to pursue medical studies in Poland". Health Promotion & Physical Activity 14, n. 1 (25 marzo 2021): 30–37. http://dx.doi.org/10.5604/01.3001.0014.8173.

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Introduction: Poland has been a member of the European Union for 17 years; however, the societal view of occupational therapy is limited and different from that in the other countries of the European Union or the world. The aim of the study was to determine the familiarity with occupational therapy among secondary school students who are the future candidates for higher medical studies and potential members of interdisciplinary teams. Material and methods: The study encompassed 1865 randomly selected secondary school students (1212 women and 653 men). The research was conducted with the use of a questionnaire with 18 multiple choice questions. Results: The majority of the respondents admitted that they were familiar with terms occupational therapy and occupational therapist but the terms were unknown to 416 persons. 1414 respondents indicated that in their opinion occupational therapist can work in rehabilitation centres. The highest number of the respondents indicated children with inborn defects, such as Down syndrome (1261 persons) in the groups of people that an occupational therapist may work with. Conclusions: The presented results indicate a relatively low level of knowledge of the respondents about occupational therapy, which reflects the overall situation of the profession in Poland.

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Lucane, Zane, Mirdza Kursite, Kristaps Sablinskis, Linda Gailite e Natalja Kurjane. "COVID-19 Vaccination Coverage and Factors Influencing Vaccine Hesitancy among Patients with Inborn Errors of Immunity in Latvia: A Mixed-Methods Study". Vaccines 11, n. 11 (25 ottobre 2023): 1637. http://dx.doi.org/10.3390/vaccines11111637.

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Background: The European Society for Immunodeficiencies recommends that all patients with inborn errors of immunity (IEI) without contraindications should receive SARS-CoV-2 vaccination. The aim of this study was to investigate the reasons that discourage IEI patients from receiving the recommended vaccination and to assess vaccination coverage among IEI patients in Latvia. Methods: In this multicenter mixed-methods study, the vaccination status of all patients with IEI within two tertiary centers in Latvia was reviewed using electronic health records. Semi-structured interviews were conducted with 16 IEI patients who did not undergo vaccination, and a thematic analysis was performed. Results: A total of 341 patients (49.3% female; median age 19.7 years (IQR:17)) were included in the quantitative part. The proportion of fully vaccinated individuals aged ≥ 12 years was 66.8%–70.9% with patients with selective IgA deficiency and 58.8% with other IEI (χ² = 14.12, p < 0.001). The proportion of fully vaccinated individuals aged 5–11 years was 11.1%. Age was associated with vaccination status: younger patients were found to have a significantly lower likelihood of receiving vaccination (U = 8585, p < 0.001). The five main themes identified were as follows: (1) fear and uncertainty; (2) risk and benefit assessment: COVID-19 vaccine—is it worth it? (3) external influences: the dark horse of the decision-making—people around us; (4) individuals against the system; and (5) beliefs about vaccination and COVID-19. Under-representation of certain IEI groups and recall bias are possible limitations of this study. Conclusions: While most reasons for hesitancy were similar to those previously described in the general population, disease-specific concerns were also identified.

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Nastevičs, Uģis. "THE IMAGE OF LATVIA AND LATVIANS ON JAPANESE TWITTER: REFLECTIONS ON PEOPLE". Culture Crossroads 17 (2 novembre 2022): 93–113. http://dx.doi.org/10.55877/cc.vol17.69.

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As Japanese tourists to Latvia have quintupled during the last seven years, polarized information regarding Latvians in Japanese on Twitter used by 45 million Japanese has likewise increased and keeps shaping the image of Latvia, affecting the further inbound tourist dynamics. The purpose of this study is to analyze Japanese tweets published from 2006 to 2013 reflecting the characteristics of Latvians. The methodology of acquisition and sentiment analysis of Japanese tweets is provided along with content analysis of tweets collated in five groups – 1) the historical, political and intersocietal view, 2) the bright side of Latvians, 3) the dark side of Latvians, 4) the surprising side of Latvians, and 5) a time-wise dense feed of tweets.

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Freeman, Joan. "Inborn talent exists". Behavioral and Brain Sciences 21, n. 3 (giugno 1998): 415. http://dx.doi.org/10.1017/s0140525x98311231.

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Evidence shows that outstanding talent is more than the product of determined effort by people of much the same inborn ability. Indications of inborn individual differences come from very early studies of childhood. No randomly selected child has ever reached world-class achievement by practice alone, which, though essential, cannot itself produce greatness.

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SPECTOR, EZEQUIEL. "Do You Deserve To Be Talented?" Utilitas 23, n. 1 (15 febbraio 2011): 115–25. http://dx.doi.org/10.1017/s095382081000052x.

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Are inborn characteristics deserved or undeserved? Using Bertrand Russell's theory of descriptions and Peter Strawson's objection to this theory, I argue that this question does not make sense. In order to know whether a person deserves something she has, it is necessary to evaluate what she did before having it. But people did not exist before their birth, so they did not exist before having their inborn characteristics. Therefore, talking about people deserving their inborn characteristics does not make sense: these characteristics are neither deserved nor undeserved.

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Oliveira, Rafael, César Leão, Ana Filipa Silva, Filipe Manuel Clemente, Carlos Tadeu Santamarinha, Hadi Nobari e João Paulo Brito. "Comparisons between Bioelectrical Impedance Variables, Functional Tests and Blood Markers Based on BMI in Older Women and Their Association with Phase Angle". International Journal of Environmental Research and Public Health 19, n. 11 (3 giugno 2022): 6851. http://dx.doi.org/10.3390/ijerph19116851.

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The aim of the present study was to compare electrical bioimpedance variables, blood markers and functional tests based on Body Mass Index (BMI) in older women. Associations between Phase Angle (PhA) with functional tests and blood markers were also analyzed. A total of 46 independent elderly people participated in the study, and they were divided into four groups according to BMI values: Group 1 (G1, BMI < 25 kg/m2); Group 2 (G2, BMI > 25–30 kg/m2); Group 3 (G3, BMI > 30–35 kg/m2); Group 4 (G4, BMI > 35 kg/m2). In addition to the weight and height used to calculate the BMI, the following body composition variables were collected: fat mass (FM), fat-free mass, intracellular water (ICW), extracellular water (ECW), total body water (TBW) and PhA (50 kHz) through InBody S10 equipment. Functional capacity was assessed using the Fullerton battery of tests: arm-curl; chair-stand; 6 min walking test (6MWT); time up-and-go test (TUG); standing on one leg (SOOL) and take 10 foot-lines (10FL). The main results showed differences between groups in the tests: 6MWT, SOOL and 10FL between G1 vs. G3 and G2 vs. G3 (p < 0.05); ACT, AIC and AEC between G1 vs. G4 (p < 0.05); FM among all groups (p < 0.05). Negative correlations were found between PhA and the agility test in G1 (r = −0.848; p = 0.008) and G4 (r = −0.909; p = 0.005); PhA and chair-stand in G3 (r = 0.527; p = 0.044); PhA and forearm flexion in G3 (r = 0.641; p = 0.010) and G4 (r = 0.943; p = 0.001); PhA and 6MWT in G4 (r = 0.771; p = 0.042). This study found that there is a clear trend towards better functional capacities with better parameters of body composition. Although there were no differences between groups in PhA, associations were found between different functional tests with PhA, which reveals the importance of this variable as a marker of health status.

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Gabdrakhmanova, Gulnara F., e Elvina A. Sagdieva. "The socio-cultural conditions for the adaptation of “new” ethnic groups in the Republic of Tatarstan". VESTNIK INSTITUTA SOTZIOLOGII 28, n. 1 (2019): 62–81. http://dx.doi.org/10.19181/vis.2019.28.1.556.

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Censuses conducted at the turn of the 21st century reveal an increase in ethnic diversity in Tatarstan. The migration of people, who became the namesakes for Soviet republics and CIS states, has lead to the emergence of unconventional ethnic groups in this region. Matters regarding why some of their members are able to establish themselves in the region, while others are not, as well as the factors which affect the process – all of this has not been sufficiently examined. The key objective of this study was to reveal the subjective socio-cultural conditions for the process of “new” ethnic groups attaching themselves to Tatarstan, them having spent various amounts of time in the republic. In 2016 the authors conducted a study of the aforementioned process while focusing on the Tajiks and Uzbeks living in Tatarstan. Using a qualitative approach (while utilizing interview method), which involved exposing the most typical forms of the subjective perception of migration (phenomenology of M. Weber, A. Schutz, E. Husserl, H. Bergson). In depth interviews revealed that the length of stay and an absence of plans for leaving the region of settlement are insufficient (in some cases even invalid) markers of migrant adaptation: the latter should be determined using the socio-cultural characteristics of inbound migrants. These would include their socialization in their regions of departure, their migration experience and reasons for moving to Tatarstan, whether they have a family or not, their family ties, whether they regard themselves and their children as citizens of the Russian Federation, the degree to which they have absorbed the cultural norms of the host community (which includes knowledge of the local languages), their ethnic identity and interethnic networks. Analyzing these parameters allowed for highlighting three adaptation strategies utilized by Tajiks and Uzbeks living in the Republic of Tatarstan. The first one is represented by those who moved there at the end of the Soviet period, or the beginning of the post-Soviet period. These are the “old inhabitants”. This group does not include those who have not integrated, despite them staying in Tatarstan for prolonged periods several times. They do not possess their own residence, or Russian citizenship, and do not seek to attain it. They have no intent to adopt the culture of the host society, often live in isolation, while their families reside in Tajikistan or Uzbekistan. An intermediate position is occupied by migrants who have been living in Tatarstan for quite a long time. All of them are employed, some of them have their own residence and Russian citizenship. Some of them live there together with their families. Such informants consider themselves distant from the locals in terms of culture, while considering their regions of departure to be their homeland. Despite the varying degree of attachment (or lack thereof), one common thing among all of those migrants surveyed is the fact that Islam was one of the key motivational terms of their migration.

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Ochoa, Carlos, e Melanie Revilla. "To what extent are members of an online panel willing to share different data types? A conjoint experiment". Methodological Innovations 11, n. 2 (maggio 2018): 205979911879601. http://dx.doi.org/10.1177/2059799118796017.

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Recently, the idea of ‘data fusion’, that is, of combining different types of data, became quite popular because of the advances of new technologies. In particular, several studies started investigating the possibility of combining survey data with other data types in order to get a more complete or accurate picture of the reality and/or to reduce survey burden. One key element, then, is the willingness of people to share different types of data, beyond survey answers. In this article, we investigate to what extent members from an opt-in online panel in Spain are willing to share different types of information that have in general not been studied before in the literature: records of their surrounding sound (audiotracking), information from their email inbox (in different ways, sharing the email credentials, using an email plug-in or redirecting emails, partially or totally), sensorial reactions measured by a wearable device (neuroscience) and public information about them available online. We use a choice-based conjoint analysis in order to study the level of willingness depending on the incentives offered in exchange, and we present the level of willingness by gender and age groups. Overall, we find huge differences in the level of willingness across data types. Increasing the incentives, on the contrary, does not improve the willingness so much, even if there is a positive trend. Some differences are observed across gender and age groups but most of them are not statistically significant.

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Kumar, Nayan, B. S. Karnawat e Navneet Badaya. "Comparative study of clinico-biochemical profile and outcome of acute kidney injury in outborn and inborn neonates". International Journal of Contemporary Pediatrics 5, n. 4 (22 giugno 2018): 1490. http://dx.doi.org/10.18203/2349-3291.ijcp20182552.

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Background: Acute Kidney Injury (AKI) is one of the major clinical problem in hospitalised neonates having variable outcomes. Prognosis depends on early diagnosis, associated risk factors and type of renal failure. The present study was undertaken to evaluate and compare risk factors, biochemical derangements and outcome of AKI in outborn and inborn neonates.Methods: For this hospital based prospective study 100 neonates were enrolled who were admitted in the NICU, diagnosed as AKI who had serum creatinine >1.5mg/dl. Study was done for 1 year from June 2016 onwards.Results: A large majority (72.3%) cases were outborn neonates (extramural) whereas (27.7%) cases were inborn neonates (intramural). Most of (79.8%) cases were term and were admitted during summer months. In outborn, type of AKI in descending order was prerenal (64.7%), renal (33.8%) and postrenal (1.5%) while in inborn neonates, cases were equally (50%) divided in between renal and prerenal. Among outborn neonates risk factors for AKI was dehydration (44%), sepsis (28%) and shock (16%) whereas in inborn, perinatal asphyxia (31%), dehydration (27%), shock (23%) and sepsis (11.5%) were risk factors. In outborn 36.8% cases were oliguric whereas in inborn 53.9% cases were oliguric.Conclusions: The maximum cases of AKI were outborn neonates in which outborn dehydration was the commonest cause while in inborn neonates perinatal asphyxia was the commonest cause. Sepsis and shock were other causes in both groups. Presence of oliguria, intrinsic AKI and shock carried poor prognosis.

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Meena, Ramkesh, Mallikarjun R. Kobal, Sharanabasappa S. Dhanwadkar e Ashwini Kumari N. B. "A clinical study of respiratory distress in neonates". International Journal of Contemporary Pediatrics 6, n. 6 (21 ottobre 2019): 2292. http://dx.doi.org/10.18203/2349-3291.ijcp20194168.

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Background: Respiratory distress is a medical emergency responsible for most of the admissions in NICUs during neonatal period. It is a major contributor to neonatal morbidity and mortality and results from a variety of respiratory and non-respiratory etiology. It occurs in 0.96 to 12% of live births and responsible for about 20% of neonatal mortality. Aim of study to find out the proportion of patients with different etiology of respiratory distress in neonates.Methods: The present study is a prospective, descriptive study which was carried out at neonatal units attached to SMS Medical College, Jaipur. All the neonates with respiratory distress admitted in NICU admitted from April 2012 to March 2013were selected for the present study. Detailed history including antenatal history, natal history, postnatal history with thorough clinical examinations and investigations done in each case and were recorded in the performa.Results: A total of 500 neonates were admitted and among them 375 were inborn (delivered in our hospitals) and 125 out-born (referred to our hospitals from outside). In inborn group hyaline membrane disease (HMD) was the most common cause (32%) of respiratory distress and in out-born congenital pneumonia/septicaemia (34.4%). There was male preponderance in both inborn and out-born groups with male: female ratio 1.45:1 and 1.6:1 respectively.Conclusions: Majority of cases in both inborn and out-born groups were preterm (56.8% and 54.4% respectively) which emphasises the need for care of mother during antenatal period for prevention of premature delivery.

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Yun, Jungmi, Ryuk Jun Kwon e Taehwa Kim. "Prevalence and clinical characteristics of low skeletal muscle index among adults visiting a health promotion center: Cross-sectional study". Medicine 102, n. 29 (21 luglio 2023): e34404. http://dx.doi.org/10.1097/md.0000000000034404.

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Sarcopenia causes a variety of functional impairments and is associated with all-cause mortality, but once it occurs, it is difficult to treat and reverse. However, the prevalence of sarcopenia in healthy people has never been investigated due to the low awareness of sarcopenia in healthy people. This cross-sectional study was conducted in a single health promotion center from the January 1st 2020 to the December 31st 2021. Adults aged 18 years and older with an Inbody as part of their health checkup were included, and all data was collected from the EMR. Obesity was defined as a body mass index (BMI) of 23 (kg/m2) or more by Korean standards, and low skeletal muscle mass was defined as a skeletal muscle index (SMI) of <0.789 for men and <0.512 for women. 60.5% of the total participants (n = 5993) had low skeletal muscle mass. The low SMI group had lower BMI, waist circumference, and abdominal skinfold than the normal SMI group (low SMI group vs normal SMI: BMI; 25.47 ± 2.96 vs 22.98 ± 3.05, P < .001, waist circumference; 90.31 ± 8.80 cm vs 82.69 ± 9.71 cm, P < .001, abdominal skinfold; 18.78 ± 2.44 mm vs 15.99 ± 2.12 mm, P < .001). The body fat percentage was higher in the low SMI group than in the normal SMI group 25.30 ± 6.23% versus 29.82 ± 7.07%, P < .001. Triglyceride and uric acid levels were low in the low SMI group (TG; 147.69 ± 97.27 vs 115.86 ± 68.31, P < .001, uric acid level; 6.30 ± 1.38 vs 5.23 ± 1.30, P < .001) and high-density lipid (HDL) was high (HDL; 53.17 ± 11.41 vs 59.89 ± 14.72, P < .001). The odds ratio of low SMI prevalence for age, sex, BMI, fat body percent, and triglycerides relative to normal SMI was 1.05 (P = .031), 0.14 (P < .001), 0.12 (P < .001), 2.05 (P < .001), and 0.99 (P = .003), respectively. Of those who visited the Health Promotion Center, more than 60% had low SMI identified through Inbody. Low BMI and high body fat percentage increase the risk of low SMI. Compared to normal and low SMI based on obesity, Sex, height, BW, abdominal skinfold, and waist circumflex showed significant P values in both groups. The factors related to low SMI were TG, HDL, and uric acid levels.

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Čyras, Petras, e Arūnas Jaras. "ŽMONIŲ SAUGA LIETUVOS STATYBOSE/OCCUPATIONAL SAFETY ON CONSTRUCTION SITES OF LITHUANIA". JOURNAL OF CIVIL ENGINEERING AND MANAGEMENT 2, n. 8 (31 dicembre 1996): 110–16. http://dx.doi.org/10.3846/13921525.1996.10590179.

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Social instability, violation of human rights to work have made the conditions of safe and harmless work worse. 19 mortal, 42 serious and 796 slight accidents occurred on construction sites during 1995 in Lithuania. The main reasons of occupational accidents are violation of work discipline and lack of organization. 24 708 days are lost because of occupational injuries, or in other words 96 builders did not work for the whole year, and 528.9 thousand litas was paid out according to the lists of disablement. The bad state in occupational safety is unprofitable. Besides, old norms and regulations are still valid at the present time, and hundreds of them are approved as far back as 1980. The drawing up of new regulations is just taking place in Lithuania. The compensation system being in force for employees, who work under harmful and hazardous conditions and social security system for those, who had suffered injuries and occupational diseases, do not stimulate employers to create healthy and safe working conditions. The factor of rest can be observed on construction sites. The heads of construction sites entrust the workers themselves to organize the work without the projects of work execution. Instructions on occupational safety and fire protection are just formal. Many of employees work without the employment contracts. Employers start to understand already that it's better to have labour protection service instead of paying fines for violation of labour protection regulations. The intellect and exacting every-day control of labour protection service specialist brings much more benefit for the prevention of occupational accidents than seldom visits of State Labour Inspection inspector to the enterprise or construction sites. The state of occupational safety depends on psychological factors, too. These factors can be grouped into three groups: natural of the human—natural inborn dispositions (the nervous system, memory, attention, the speed of reaction, intellect); psychological peculiarities of personality (the features of human professional activities, leadership, erudition); professional knowledge formed during learning, studying and training. The human psychology determines how the person interprets and copes with the things going on around him and related to him. Two different persons will act differently in the same situation. When a person reacts sensitively to weak and insignificant signals, he will pay attention to preparative and preventive work, think about potential danger and will take care to avoid accident. And vice versa, people who are not sensitive for such signals takes too little care to insure against accidents. It is reasonable to test psychologically an employee before signing an employment contract with him under market circumstances. It will be one of the conditions fulfilled for professional selection, which will decrease expenses for further training and professional activity of an employee. Fatal and serious disasters on construction sites decreased twice in 1995 as compared to 1994. And the total number of accidents decreased by 12 cases only (Table 1). Dynamics of mortal, heavy and slight accidents in 1991–95 is depicted in Fig. 1. The usage of alcohol is closely related to psycho-emotional stress. It has an influence on the accidents, too. 8 employees were killed while being drunk in 1995. It is 42.11% of total number of killed employees. The most dangerous occupations on construction sites are those of auxiliary workers, bricklayers, carpenters, welders and concreters. Majority of accidents happen to the persons who work for less than one year (fatal accidents—8, heavy accidents—16, slight accidents—163, or 44.44%, 41.08%, 32.21%, respectively).

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Setthachotsombut, Natpatsaya, Wissawa Aunyawong, Natapat Areerakulkan, Chayanan Kerdpitak, Kajornpong Poolsawad, Kasidej Sritapanya e Chanthala Bounnaphol. "Optimization of Thai-Lao cross border transportation via R9 route for Thai shippers". Uncertain Supply Chain Management 10, n. 4 (2022): 1323–30. http://dx.doi.org/10.5267/j.uscm.2022.7.007.

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The objectives of this research are to find the proper measures to improve efficiency of Thai-Lao cross border transportation (R9 route) for Thai shippers and study their performance after implementing the developed measures. This research implements both quantitative and qualitative research, where the population of this research consists of shipper’s groups which transport products via the Thai Lao border located along R9 route. The research tools are questionnaire and structured interview form passed variability and reliability tests. Then the questionnaires are distributed to 3 large size firms (sample size of 316 people) and an in-depth interview with 18 people. This research analyzes gathered data using descriptive analysis, construct validity, structural equation modeling (SEM), path analysis, and content analysis for qualitative data. The analysis results reveal important findings according to each research objective as follows. For the first objective, to improve cross-border transportation, the case study firms should concentrate on three measures as: 1) transportation safety in terms of sound safety control and monitor, increasing rest areas and truck stops including those on pavement or roadside, safety monitoring during transportation, and weather conditions checking; 2) documentation procedure in terms of reducing the procedure steps, IT implementation, and procedure improvement both inbound and outbound; and 3) vehicles management in terms of appropriate resources allocation, facilities availability, and appropriate resources selection. For the second objective, the study of the case study firms’ performance after implementing the developed measures, it reveals benefits in several aspects of 1) cheaper (they can deliver items with lower costs, lower expenses, or lower price than before implementation as well as other competitors); 2) faster (better customers responsiveness, faster delivery and operating than other competitors, and lead time reduction), and 3) better (in operations with less bottlenecks, mistakes, and disruptions manifested in delivery; higher competitiveness and better service quality). To summarize, the implementation of the developed model can help the shippers to increase their capability as well as their competitiveness.

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Thayyil, Sudhin, Paolo Montaldo, Vaisakh Krishnan, Phoebe Ivain, Stuti Pant, Peter J. Lally, Prathik Bandiya et al. "Whole-Body Hypothermia, Cerebral Magnetic Resonance Biomarkers, and Outcomes in Neonates With Moderate or Severe Hypoxic-Ischemic Encephalopathy Born at Tertiary Care Centers vs Other Facilities". JAMA Network Open 6, n. 5 (8 maggio 2023): e2312152. http://dx.doi.org/10.1001/jamanetworkopen.2023.12152.

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ImportanceThe association between place of birth and hypothermic neuroprotection after hypoxic-ischemic encephalopathy (HIE) in low- and middle-income countries (LMICs) is unknown.ObjectiveTo ascertain the association between place of birth and the efficacy of whole-body hypothermia for protection against brain injury measured by magnetic resonance (MR) biomarkers among neonates born at a tertiary care center (inborn) or other facilities (outborn).Design, Setting, and ParticipantsThis nested cohort study within a randomized clinical trial involved neonates at 7 tertiary neonatal intensive care units in India, Sri Lanka, and Bangladesh between August 15, 2015, and February 15, 2019. A total of 408 neonates born at or after 36 weeks’ gestation with moderate or severe HIE were randomized to receive whole-body hypothermia (reduction of rectal temperatures to between 33.0 °C and 34.0 °C; hypothermia group) for 72 hours or no whole-body hypothermia (rectal temperatures maintained between 36.0 °C and 37.0 °C; control group) within 6 hours of birth, with follow-up until September 27, 2020.Exposure3T MR imaging, MR spectroscopy, and diffusion tensor imaging.Main Outcomes and MeasuresThalamic N-acetyl aspartate (NAA) mmol/kg wet weight, thalamic lactate to NAA peak area ratios, brain injury scores, and white matter fractional anisotropy at 1 to 2 weeks and death or moderate or severe disability at 18 to 22 months.ResultsAmong 408 neonates, the mean (SD) gestational age was 38.7 (1.3) weeks; 267 (65.4%) were male. A total of 123 neonates were inborn and 285 were outborn. Inborn neonates were smaller (mean [SD], 2.8 [0.5] kg vs 2.9 [0.4] kg; P = .02), more likely to have instrumental or cesarean deliveries (43.1% vs 24.7%; P = .01), and more likely to be intubated at birth (78.9% vs 29.1%; P = .001) than outborn neonates, although the rate of severe HIE was not different (23.6% vs 17.9%; P = .22). Magnetic resonance data from 267 neonates (80 inborn and 187 outborn) were analyzed. In the hypothermia vs control groups, the mean (SD) thalamic NAA levels were 8.04 (1.98) vs 8.31 (1.13) among inborn neonates (odds ratio [OR], −0.28; 95% CI, −1.62 to 1.07; P = .68) and 8.03 (1.89) vs 7.99 (1.72) among outborn neonates (OR, 0.05; 95% CI, −0.62 to 0.71; P = .89); the median (IQR) thalamic lactate to NAA peak area ratios were 0.13 (0.10-0.20) vs 0.12 (0.09-0.18) among inborn neonates (OR, 1.02; 95% CI, 0.96-1.08; P = .59) and 0.14 (0.11-0.20) vs 0.14 (0.10-0.17) among outborn neonates (OR, 1.03; 95% CI, 0.98-1.09; P = .18). There was no difference in brain injury scores or white matter fractional anisotropy between the hypothermia and control groups among inborn or outborn neonates. Whole-body hypothermia was not associated with reductions in death or disability, either among 123 inborn neonates (hypothermia vs control group: 34 neonates [58.6%] vs 34 [56.7%]; risk ratio, 1.03; 95% CI, 0.76-1.41), or 285 outborn neonates (hypothermia vs control group: 64 neonates [46.7%] vs 60 [43.2%]; risk ratio, 1.08; 95% CI, 0.83-1.41).Conclusions and RelevanceIn this nested cohort study, whole-body hypothermia was not associated with reductions in brain injury after HIE among neonates in South Asia, irrespective of place of birth. These findings do not support the use of whole-body hypothermia for HIE among neonates in LMICs.Trial RegistrationClinicalTrials.gov Identifier: NCT02387385

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Zaitseva, E. V. "AWARENESS OF DOCTORS AND PATIENTS ABOUT INBORN ERRORS OF IMMUNITY". KAZAN SOCIALLY-HUMANITARIAN BULLETIN 11, n. 4 (agosto 2020): 16–21. http://dx.doi.org/10.24153/2079-5912-2020-11-4-16-21.

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The immune system protects the body. When defenses are compromised, people with hereditary immunological disorders become vulnerable to many life-threatening infections. Inborn errors of immunity (primary immunodeficiencies), manifested in patients in increased susceptibility to infectious diseases, autoimmune diseases, allergies, and malignant neoplasms. Today, this group of diseases is still considered quite rare. However, the development of diagnostic technologies expands the list of nosologies associated with inborn errors of immunity. Neonatal screening for inborn errors of immunity could solve many of the problems of these patients, but the procedure is not carried out in the Russian Federation. Therefore, diagnostics based on an analysis of the clinical manifestations of diseases. In most cases, the disease is diagnosed in early childhood. Here, the role of both the parents of the child-patient and the medical staff is important. The health and life of the child depends on their awareness of the disease, methods of diagnosis, treatment. This group of diseases is chronic, under an hour, severe. In the absence of timely diagnosis and proper therapy, it can be fatal. The article describes the experience of applied quantitative research conducted by the method of questioning patients with primary immunodeficiencies (parents of underage patients), about their disease, methods of treatment, problems arising in the long-term struggle with this complex disease. The author notes that patients and primary care doctors or general practitioners are poorly informed about diseases associated with primary immunodeficiencies. It is concluded that it is necessary to increase the informational medical culture of the population, especially the young, as participants in the interaction "doctor-patient" and representatives of the interests of minor children-patients with inborn errors of immunity.

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Дьяченко, Александр, e Aleksandr Dyachenko. "CLIENT-ORIENTED OPTIMIZATION OF ACTIVE TOURISM PROPERTIES". Service & Tourism: Current Challenges 11, n. 3 (4 settembre 2017): 32–41. http://dx.doi.org/10.22412/1995-0411-2017-11-3-32-41.

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Based on the results of theoretical studying the active tourism, the article synthesizes the category and formulates the imperatives of active tourist recreation management, and proposes the approach to corresponding economic processes optimization. It was revealed that active tourism is implemented in the form of travels and sports entertainments for all population groups, including people with disabilities, through programs of hiking, climbing, sports games, rafting, diving, safari, horse ride walks, skiing, cycling, motorcycling, car walks, nonprofessional activities of any kind of sports. At the same time, an active way of traveling along the route is carried out with the orientation to the possibilities, needs, tastes, preferences of the holidaymaker and local attractions. This makes it possible to provide treatment, health improvement, and recreation for tourists, increase inbound tourist flows, create workplaces, and attract investments for the implementation of promising infrastructure development projects of active types of travel and recreation. The author point out the necessity to choose the criteria for optimizing the routes of active tourism, focused on resources properties satisfying the tourist needs, tastes and preferences.vit should be based on the unique sports and recreational resources and increasing tourist needs. The author proposes and illustrates the approach that makes it possible to optimize electing basic properties of resources affecting the satisfaction of participants of active tours, and, consequently, on the price of the relevant services. This work was supported by RHSF Grant №17-12-34032.

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Reddy, Araveeti Madhusudhana, Madha Venkata Suresh Babu e Ramachandra Raghavendra Rao. "Ethnobotanical study of traditional herbal plants used by local people of Seshachalam Biosphere Reserve in Eastern Ghats, India". Herba Polonica 65, n. 1 (1 marzo 2019): 40–54. http://dx.doi.org/10.2478/hepo-2019-0006.

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Summary Introduction: Ethnobotany is the study of medicinal plants used by local people, with particular importance of old-styled tribal beliefs and information. Ethnobotanical studies focus on ethnic knowledge of Adivasi people and development of data bases on ethnic knowledge but also focuses on preservation and regeneration of traditional beliefs and maintenance of traditional knowledge. Objective: The aim of present study is to highlight the traditional actions of herbal plants used by inborn Yanadi community of Seshachalam Biosphere Reserve, Eastern Ghats of Andhra Pradesh, India. Methods: The ethnobotanical field survey was conducted according to the methods adopted by some authors. In-depth interviews, interactions were conducted with tribal physicians of Yanadi, Nakkala and Irula as well as other tribes practicing and experiencing the use of plant-based medicine. A normal inquiry form was used to gather the appropriate data on herbal plants and their usage of inborn people’s lifestyle. Extensive consultations among local people and detailed documentation of the usage of plants were carried out Results: A total of 266 medicinally used plant species belonging to 216 genera and 88 families were recognized with help of inborn herbal healers. The study also chronicled the mode of herbal arrangements, mode of the use of herbal plants in various disorders. The study exposed that native people of Seshachalam Biosphere Reserve have good medicinal information and also have preserved plant-based medicinal system of their ascendants used all their diseases. Most of medicinal plants are used in the treatment of indigestion, snake bite and skin diseases. The authors feel that this type of study certainly helps identify ethnic leads for drug development in future. Conclusions: The ethnobotanical investigation of Seshalam Biosphere area has revealed that the tribes possess good knowledge on plant-based medicine but as they are towards in advanced exposure to transformation, their information on traditional uses of plants is slowly getting eroded. The authors plead for intensive crosscultural studies involving all ethnic tribes in the country for prioritizing or short listing of ethnic leads for various disorders for ultimately developing global level drugs for human welfare and economy development.

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Martins, Ana Maria. "Inborn errors of metabolism: a clinical overview". Sao Paulo Medical Journal 117, n. 6 (4 novembre 1999): 251–65. http://dx.doi.org/10.1590/s1516-31801999000600006.

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CONTEXT: Inborn errors of metabolism cause hereditary metabolic diseases (HMD) and classically they result from the lack of activity of one or more specific enzymes or defects in the transportation of proteins. OBJECTIVES: A clinical review of inborn errors of metabolism (IEM) to give a practical approach to the physician with figures and tables to help in understanding the more common groups of these disorders. DATA SOURCE: A systematic review of the clinical and biochemical basis of IEM in the literature, especially considering the last ten years and a classic textbook (Scriver CR et al, 1995). SELECTION OF STUDIES: A selection of 108 references about IEM by experts in the subject was made. Clinical cases are presented with the peculiar symptoms of various diseases. DATA SYNTHESIS: IEM are frequently misdiagnosed because the general practitioner, or pediatrician in the neonatal or intensive care units, does not think about this diagnosis until the more common cause have been ruled out. This review includes inheritance patterns and clinical and laboratory findings of the more common IEM diseases within a clinical classification that give a general idea about these disorders. A summary of treatment types for metabolic inherited diseases is given. CONCLUSIONS: IEM are not rare diseases, unlike previous thinking about them, and IEM patients form part of the clientele in emergency rooms at general hospitals and in intensive care units. They are also to be found in neurological, pediatric, obstetrics, surgical and psychiatric clinics seeking diagnoses, prognoses and therapeutic or supportive treatment.

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Shaw, Amy. "21-Hydroxylase Deficiency Congenital Adrenal Hyperplasia". Neonatal Network 29, n. 3 (maggio 2010): 191–96. http://dx.doi.org/10.1891/0730-0832.29.3.191.

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CONONGENITAL ADRENAL hyperplasia (CAH) is an inborn error of metabolism that can produce life-threatening disease in the first one to three weeks of life, unless properly diagnosed and managed. This autosomal recessive disease results in insufficient biosynthesis of cortisol due to an enzyme defect in the adrenal gland. CAH due to 21-hydroxylase (21-OH) deficiency is found in 1/11,000–1/15,000 people in the general population, with a prevalence as high as 1/750 people in some populations such as the Yupik Eskimos in Alaska and the people of La Réunion in France.1 Males and females are equally affected by this disease due to the autosomal recessive pattern of inheritance.

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Volevodz, N. N. "Federal clinical practice guidelines on the diagnostics and treatment of Shereshevsky-Turner syndrome". Problems of Endocrinology 60, n. 4 (15 agosto 2014): 65–76. http://dx.doi.org/10.14341/probl201460452-63.

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Shereshevsky-Turner syndrome is a chromosomal pathology related to partial or complete monosomia. Characteristic manifestations of this condition include growth retardation, sexual infantilism, and various inborn anomalies of the physical development. The present recommendations present information on etiology of this disease, its pre- and postnatal diagnostics, protocols of relevant studies and treatment of the patients belonging to different age groups.

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Soraisham, Amuchou, Ayman Sheta, Catherine Ringtham, Selphee Tang, Diane Creighton, Leonora Hendson e Abhay Lodha. "DOES PRETERM INFANTS BORN OUTSIDE TERTIARY PERINATAL CENTRE HAVE AN IMPACT ON NEURODEVELOPMENTAL AND GROWTH OUTCOME AT 36 MONTHS CORRECTED AGE?" Paediatrics & Child Health 23, suppl_1 (18 maggio 2018): e18-e19. http://dx.doi.org/10.1093/pch/pxy054.047.

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Abstract BACKGROUND Infants born in tertiary perinatal centres (inborn) have higher survival and lower morbidity than outborn infants. However, there is limited information regarding the long term neurodevelopmental and growth outcomes among outborn preterm infants. OBJECTIVES To compare the neurodevelopmental and growth outcomes at 36 months corrected age (CA) between outborn and inborn infants born < 29 weeks. DESIGN/METHODS This is a retrospective cohort study. We included infants born <29 weeks admitted to Foothills Medical Centre, Calgary between January 2000 and December 2012, who had neurodevelopmental(ND) assessment up to 36 months CA. Infants with intrauterine infection, major congenital and chromosomal anomalies were excluded. Our primary outcome was composite of death or neurodevelopmental impairment (NDI). We compared ND and growth outcomes between inborn and the outborn infants using univariate and multivariate logistic regression analysis. RESULTS Of 1235 eligible infants, 175 (14%) were outborn. Outborn infants were lower in GA (25.8 ± 1.7 wk vs 26.2 ± 1.5 wk), had lower chorioamnionitis rate (15% vs 24%), received less antenatal steroid (55% vs 90%) and maternal antibiotics (51% vs 68%). Neonatal morbidities were similar between the two groups except that outborn infants had higher rates of severe brain injury (24% vs 12%) and mortality (22% vs 11%). Of 1078 eligible survivors, 1048 (97%) were followed. There was no difference in ND outcomes (Table). Multivariate regression analysis controlling for potential confounders (GA, gender, chorioamnionitis, antenatal steroids and maternal age) showed outborn status was not associated with composite primary outcome of death or ND impairment (adjusted OR: 1.09, 95% CI, 0.69, 1.70). Growth outcomes were not significantly different between two groups. CONCLUSION In this cohort, neurodevelopmental and growth outcomes does not appear to be significantly different between outborn and infants at 36 months corrected age.

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Rashed, Mohammad, Md Abul Hossain e Mohammad Matiur Rahman. "A case study of the gears and craft used for artisanal fishing in Chittagong Patharghata Fishery Ghat, Bangladesh and socio-economic condition of the fishermen". Asian Journal of Medical and Biological Research 2, n. 4 (23 gennaio 2017): 712–26. http://dx.doi.org/10.3329/ajmbr.v2i4.31019.

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The Patharghata Fishery Ghat in Chittagong is one of the largest fish landing centers in Bangladesh. The study aimed to explore different types of gears and crafts used from the landing center, fish species caught by the gears, and certain degree of socio-economic condition of the fishermen. Data were collected from local fishermen through on the spot inspections, Personal Interview (PI), and Focus Group Discussion (FGD). The gears used from the landing center were classified as Large Mesh Drift Gill Nets (DGNs), Marine Set Bag Nets (MSBNs), and Trammel Nets. Mainly 7 types of DGNs having the mesh sizes ranging from 2.5 to 16 inches had been used by the fishermen of which Lakkha Jal, Lal jal and Char Shuta Jal were the most commonly used DGNs to catch Hilsha, Lakhua, Pomfret etc. Hilsha Shad (Tenualosa ilisha) was the most dominant species and about 60% of different nets were used to catch this species. Only single type of artisanal fishing craft (trawlers) was found in the landing center and is propelled by inboard engine. The capacity of the trawlers varied from 8 to 22 metric tons. In case of socio-economic condition, most of the fishermen belonged to the age groups of 21-30 and 31-40 years; each represented 31% of the total fishermen. About 91% of fishermen were found to be Muslim and rest 9% were Hindu. The average members of the nuclear and joint families were 3.78 and 7.83 per household, respectively; however, these groups of people were being deprived in their society. The study also revealed that about 67% of fishermen had no formal education and 27% had primary and rest 6% had secondary level of education. The annual income of the fishermen ranged from BDT 50,000 to 100,000 and the main expenditure of their earnings were for food (80%), followed by physical treatment (10%) of their family members. They had hardly any savings. Lack of knowledge and government support, and illiteracy were the major problems of the fishermen in the landing center.Asian J. Med. Biol. Res. December 2016, 2(4): 712-726

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Lejzerowicz, Magda. "Identity and its reconstruction and disabled people". International Journal on Disability and Human Development 16, n. 1 (1 febbraio 2017): 19–24. http://dx.doi.org/10.1515/ijdhd-2016-0036.

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Abstract A disabled person with acquired disability must manage to cope with social identity, reconstruct their identity and construct own biography from scratch. People with inborn disability create their identity of a disabled person from the beginning. They are educated to play a role of a person with disabilities in society. The stigma of disability remains with a disabled person forever. Disability becomes the central category determining the social identity of these individuals. The problems which were raised are connected with setting up the line between personal and social identity, between satisfying the need of being unique and the need to belong, between defining a person through the prism of stigma and perceiving them as representative of the specific type of personality. The mark of the person with disability that this disability imprints in their life is the best known only by the people who live with it. The article is an attempt to answer questions: Is it possible to manage the social identity or does the disabled person need to reconstruct their identity or construct their biography from scratch? What are the chances of dealing with disability stigma?

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Witalis, Ewa, Bożena Mikołuć, Halina Car, Jolanta Sawicka-Powierza, Ewa Starostecka e Maria Giżewska. "The quality of life of people with rare inborn errors of metabolism and their caregivers". Pediatria Polska 93, n. 2 (2018): 148–52. http://dx.doi.org/10.5114/polp.2018.76245.

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Löwy, Ilana. "How diseases became “genetic”". Ciência & Saúde Coletiva 24, n. 10 (ottobre 2019): 3607–17. http://dx.doi.org/10.1590/1413-812320182410.19102019.

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Abstract This article examines the origins of the term “genetic disease.” In the late 19 and early 20th century, an earlier idea that diseases that occur in families reflect a vague familiar “predisposition” was replaced by the view that such diseases have specific causes, while Mendelian genetics provided then clues to the patterns of their transmission. The genetictisation of inborn pathologies took a decisive turn with the redefinition, in 1959, of Down syndrome as a chromosomal anomaly, then the development of tests for the diagnosis of other hereditary pathologies. At that time, geneticists distinguished “hereditary” diseases that run in families, from “genetic” conditions that are the result of new mutations during the production of egg and sperm cells. In the latter case, the inborn impairment is produced by an anomaly in the genetic material of the cell, but is not hereditary, because it is not transmitted from one or both parents. In the late 20th and early 21st century, new genomic technologies blurred the distinction between hereditary and genetic impairments, extended the concept of genetic disease, and modified the experience of people living with such a disease.

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Bye, Anja, Morten A. Høydal, Daniele Catalucci, Mette Langaas, Ole Johan Kemi, Vidar Beisvag, Lauren G. Koch, Steven L. Britton, Øyvind Ellingsen e Ulrik Wisløff. "Gene expression profiling of skeletal muscle in exercise-trained and sedentary rats with inborn high and low VO2max". Physiological Genomics 35, n. 3 (novembre 2008): 213–21. http://dx.doi.org/10.1152/physiolgenomics.90282.2008.

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The relationship between inborn maximal oxygen uptake (VO2max) and skeletal muscle gene expression is unknown. Since low VO2max is a strong predictor of cardiovascular mortality, genes related to low VO2max might also be involved in cardiovascular disease. To establish the relationship between inborn VO2max and gene expression, we performed microarray analysis of the soleus muscle of rats artificially selected for high- and low running capacity (HCR and LCR, respectively). In LCR, a low VO2max was accompanied by aggregation of cardiovascular risk factors similar to the metabolic syndrome. Although sedentary HCR were able to maintain a 120% higher running speed at VO2max than sedentary LCR, only three transcripts were differentially expressed (FDR ≤ 0.05) between the groups. Sedentary LCR expressed high levels of a transcript with strong homology to human leucyl-transfer RNA synthetase, of whose overexpression has been associated with a mutation linked to mitochondrial dysfunction. Moreover, we studied exercise-induced alterations in soleus gene expression, since accumulating evidence indicates that long-term endurance training has beneficial effects on the metabolic syndrome. In terms of gene expression, the response to exercise training was more pronounced in HCR than LCR. HCR upregulated several genes associated with lipid metabolism and fatty acid elongation, whereas LCR upregulated only one transcript after exercise training. The results indicate only minor differences in soleus muscle gene expression between sedentary HCR and LCR. However, the inborn level of fitness seems to influence the transcriptional adaption to exercise, as more genes were upregulated after exercise training in HCR than LCR.

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Tepe, Tugay, Ahmet İbrahim Kurtoğlu, Hacer Yapıcıoğlu, Mustafa Özdemir, Nejat Narlı, Ferda Özlü, Sevcan Erdem e İlker Ünal. "Impact of transport outcomes of outborn newborns with critical congenital heart disease on surgery time and mortality rates". Cukurova Medical Journal 49, n. 1 (29 marzo 2024): 62–70. http://dx.doi.org/10.17826/cumj.1379435.

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Purpose: Transport of neonates with critical congenital heart disease (CCHD) necessitates professional and experienced staff and, well-equipped facilities for both the procedure and post-operative care. In this study, we aimed to evaluate the effect of transport on operation time and survival in neonates with CCHD and determine the relationship between transport characteristics and clinical status. Materials and Methods: A retrospective cross-sectional cohort study was conducted on all infants with CCHD who were transported to a university hospital between January 1, 2019 and December 31, 2019. Transport characteristics such as transport distance, accompanying healthcare provider, vital signs, oxygen saturation levels, prostaglandin E1 (PGE) use, and respiratory support were recorded. The effects of transport characteristics on surgery time, complications, and mortality were analyzed. The Society of Thoracic Surgeons-European Association for Cardio-Thoracic Surgery (STAT) Score was used to analyze mortality-related risks for congenital heart disease. They were compared with inborn newborns with CCHD. Results: A total of 55 patients with CCHD were evaluated. Thirty-one newborns (56.4%) were inborn (Inborn group), and 24 newborns (43.6%) were transferred from another center (Outborn group). There was no difference between the groups in terms of gender, gestational age, birth weight, pre-operative time, and hospital stay. Although the Outborn group had fewer STAT Score categories, there was no difference in the 30-day survival or mortality rates. In the Outborn group, five patients (20.8%) with duct-dependent CCHD were transported without PGE treatment and six duct-dependent (25%) patients received oxygen during transport inappropriately. Conclusion: The administration of PGE and oxygen therapies to specific transported infants was inappropriate. Therefore, referral or transport team members should be familiar infants with CCHD. The impact of transport on surgical timing did not yield a significant effect. However, similar mortality rates were observed in both groups, despite the Outborn group demonstrating lower STAT scores. This may indicate the significance of referring intrauterine transportation to experienced cardiovascular centers.

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Poberezhna, Nataliya M., Serhii T. Omelchuk, Serhii A. Pavlovskyi e Maryna O. Pavlovska. "Hygienic signs of diagnostics of early dysmetabolic disorders symptoms". Wiadomości Lekarskie 73, n. 2 (2020): 302–5. http://dx.doi.org/10.36740/wlek202002118.

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The aim of the study was to identify certain health features among healthy people that can serve as a risk factor and lead to the further development of metabolic syndrome. Materials and methods: A total of 79 men, completely health, were interviewed during 2019 at the Center for Health and Longevity Technology (Kyiv) to assess their health and further correction recommendations for identified abnormalities and available changes. The mean age of men was (37.18 ± 0.89) years. Non-invasive methods were used in the study: determination of anthropometric parameters – height, body weight, waist circumference, abdomen, index of ratio of waist-to-waist circumference, body mass index, body shape index. The constituent compositions of the body were performed with an InBody 220 apparatus with impedance analysis. The metabolic profile was evaluated using FITMATE, a portable metabological device. The cardiovascular profile was determined in the CARDIOLAB + HRV system. The obtained digital data were processed by the method of variational statistics using Microsoft Excel 7.0. Results: It was found that in 44 (54.4%) of the surveyed men, the waist circumference exceeded 94 cm. The largest number of such persons was found among men aged 31-40 years – (29.11% of the surveyed in this group) and persons aged 41-50 years – 21.52%. Fat distribution (waist circumference / hip circumference) averaged (0.83 ± 0.02). The difference in the body shape index between the group of young persons and groups of older men was established. The predisposition to metabolic disorders is established in 49,37% of cases. Determination of metabolic profile revealed a deviation toward an increase in actual metabolism in 15 people and 15 – in the direction of reducing it. Conclusions: Thus, the results of a thorough examination of healthy men showed that they may have health changes that characterize the early signs of disease risk, and their presence can be detected by simple non-invasive research methods. The doctor’s task is to assign an in-depth study of the risk factors for the development of a particularly common in our time prevalence of a complex multicomponent metabolic syndrome, which includes the symptoms of the defeat of many body systems, in particular, the endocrine, cardiovascular, urinary and other in order to preserve human health and to recognize it as early as possible, prevent it and avoid complications.

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Kim, Se Hun, Dong Gil Han e Joo Hyuk Park. "Usefulness of the eyeball exposure area as an eye measurement modality through a comparison between eyes with inborn double eyelids and operated double eyelids". Archives of Aesthetic Plastic Surgery 28, n. 2 (30 aprile 2022): 49–52. http://dx.doi.org/10.14730/aaps.2021.00297.

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Background Many Korean women with single eyelids wish to have their eyes enlarged through double eyelidplasty, and many of them also want to have additional procedures in order to have a larger perceived size of their eyes, with the desire for their eyes to resemble those with inborn double eyelids. Thus, in this study, we performed eye measurements and evaluated the usefulness of the eyeball exposure area to differentiate the overall eye size according to the nature of double eyelids (inborn or operated).Methods This study involved 92 eyes with natural double eyelids (group A) and 76 eyes with only double eyelidplasty (group B). The two groups were compared through measurements of the exposed eyeball area (EEA) and palpebral fissure height (PFH). To compare the usefulness of the EEA for the perceived eye size, the PFH value was also measured by adjusting it to a percentage value.Results The mean value of the PFH was 9.95±0.67 mm in group A and 8.48±1.04 mm in group B. The adjusted percentage value of the PFH relative to the corneal diameter (11.3 mm) was 88.05% in group A and 75.04% in group B. The EEA was 85.59%±3.25% in group A and 82.89%±6.36% in group B. The difference between the two groups was 13.01% in terms of PFH and only 2.7% in terms of EEA.Conclusions The values of PFH and EEA were higher in group A, but EEA was more useful for evaluating the perceived eye size between the two groups.

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Ateeq, Mohammad, Shazia Jehan e Riffat Mehmmod. "FAITH HEALING". Professional Medical Journal 21, n. 02 (7 dicembre 2018): 295–301. http://dx.doi.org/10.29309/tpmj/2014.21.02.2170.

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Objectives: To observe the frequency and various modes of faith / spiritualhealing adopted by patients admitted with surgical diseases and their effects on course ofdisease. Study design: Prospective, observational. Setting: Surgical Department Aziz BhattiShaheed (Teaching) Hospital Gujrat, & Surgical department Islam Medical& Dental CollegeSialkot. Duration of study: January 2013 to June 2013. Material& Methods: Patients of both sexand all age groups admitted surgical wards of in both study setting during the study period wereincluded in the study. Unattended/non cooperative and patients with trauma were excluded.Their surgical problems were evaluated and recorded. Various techniques of spiritual/ faithhealing being adopted by the patients either as primary or /and an adjuvant modality were notedand resulted formulated. Results: A total of 953 patients with surgical problems were admitted inboth study settings. 788 patients (82.68%) were found to be using one or another technique offaith /spiritual healing as a primary or/ and an adjuvant to medical treatment. Out of total 788patients 414 (52.53%) were female, no much difference of adaptation of various spiritual/faithhealing was found in literate and illiterate population. This practice of adopting spiritual/faithhealing was more common in rural population (n=493 62.56%). Conclusions: Trust on faith/spiritual healing techniques is a common phenomenon in society, but it is a commonest knownreason of late presentation, diagnosis, treatment of the diseases leading to poor outcome. Onemust trust Allah, and it is consistent to apply every remedy that comes with in the range of one’sknowledge, and then to ask Allah to sanctify that application to the healing of ailment. Religiousscholars, electronic as well as print media can play a vital role in making people aware of this factthat will eventually lead to early diagnosis, treatment and better outcome of various bodyailments.

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SPEER, MICHAEL E., ARNOLD J. RUDOLPH e HELEN M. HITTNER. "Questions on the Vitamin E Study". Pediatrics 76, n. 2 (1 agosto 1985): 327–29. http://dx.doi.org/10.1542/peds.76.2.327.

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In Reply.— Regarding the efficacy of a few early intramuscular injections of vitamin E to decrease the incidence and severity of intraventricular hemorrhage reported by Speer et al,1 Jansen adds his concerns to those already expressed in the commentary by Phelps.2 The intraventricular hemorrhage data were a retrospective study, the inborn and outborn infants were not randomly separated into control and treatment groups, and the small numbers resulted in some nonsignificant differences between control infants and treated infants.

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Schwartz, Carl E., e Scott L. Rauch. "Temperament and Its Implications for Neuroimaging of Anxiety Disorders". CNS Spectrums 9, n. 4 (aprile 2004): 284–91. http://dx.doi.org/10.1017/s1092852900009226.

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ABSTRACTWe review the attributes of inhibited and uninhibited infant temperaments, and their developmental trajectories into early adulthood. Inborn individual differences in infants' propensity to respond to novel people and objects are associated with persistent differences in the responsivity of the amygdala to novelty, as measured with functional magnetic resonance imaging, after more than 20 years of development. Because an inhibited temperament is a risk factor for developing later psychiatric disorders, particularly generalized social anxiety disorder, temperamental differences are confounds in neuroimaging and genetic studies. Longitudinal studies are a unique tool for understanding the developmental and temperamental risk factors for psychiatric disorder.

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Held, Patrice K., Emily Singh e Jessica Scott Schwoerer. "Screening for Methylmalonic and Propionic Acidemia: Clinical Outcomes and Follow-Up Recommendations". International Journal of Neonatal Screening 8, n. 1 (7 febbraio 2022): 13. http://dx.doi.org/10.3390/ijns8010013.

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Wisconsin’s newborn screening program implemented second-tier testing on specimens with elevated propionylcarnitine (C3) to aid in the identification of newborns with propionic and methylmalonic acidemias. The differential diagnosis for elevated C3 also includes acquired vitamin B12 deficiency, which is currently categorized as a false positive screen. The goal of this study was to summarize screening data and evaluate their effectiveness at establishing diagnoses and categorizing false positive cases. All Wisconsin newborns born between 2013 and 2019 with a positive first-tier screen for C3 were included in this study. For each case the first- and second-tier newborn screening data and confirmatory test results were compiled. The clinical determination for each case was reviewed and categorized into groups: inborn error of metabolism, maternal B12 deficiency, infant B12 deficiency, and false positive. A review of the screening data showed a significant overlap in the concentration of biomarkers for newborns with genetic versus acquired disease. Additionally, a review of confirmatory test results showed incomplete ascertainment of maternal vitamin B12 status. The Wisconsin newborn screening program recommended a confirmatory testing algorithm to aid in the diagnosis of inborn errors of metabolism and acquired vitamin B12 deficiency.

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Mullen, A., G. Butrous e K. Abzaliev. "RETROSPECTIVE EFFICACY ANALYSIS OF ACUTE VASOREACTIVE TEST AS A CRITERIA FOR SURGERY IN CHILDREN WITH INBORN LEFT-TO-RIGHT BLOOD SHUNTING AND PULMONARY ARTERIAL HYPERTENSION". Russian Journal of Cardiology, n. 7 (14 agosto 2018): 41–46. http://dx.doi.org/10.15829/1560-4071-2018-7-41-46.

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Aim. Retrospective analysis of efficacy of the acute vasoreactive test (AVRT) as a criteria for operability of children with inborn left-to-right blood shunting complicated by pulmonary arterial hypertension (IRLBS-PAH), by an experience of one center.Material and methods. Retrospective analysis of the data of right heart chambers catheterization and echocardiographic study from 29 case histories of BS-PAH patients during 2012-2016. Results of AVRT are interpreted by modified Barst criteria (decline of pulmonary vascular resistance index, PVRI, and relation of PVRI to the index of systemic vascular resistance, SVR more than 20%, and the and PVRI <6 Wood units/m2 in PVR/SVR <0,3). In accordance with the results of AVRT, patients were selected to two main groups: group 1 — children with positive response, group 2 — children with negative response. After correction of the inborn defect in bith groups, following assessment of cardiovascular system condition was done by echocardiographical study in one week and one month. Metrics of echocardiography data was indexed. For the defect of interventricular septum (DIVS), indexation of the size was done via the relation to aortic root diameter, that was measured in parasternal position, longitudinal axis. Systolic pressure in the right ventricle was measured by the velocity of tricuspid regurgitation, measured in apical four-chamber position. Mean values with the standard deviation and p-values were calculated in R studio 2017 software, v.1.0.153.Results. Among 29 patients, girls to boys relation was 4,8:1. Mean age 6,0±4,9 y. o. For group 1: median of DIVS 1,4 with the value of additional shunting 9,93±9,39 mm, baseline systolic pressure in the right ventricle (SPRV) 57,96±20,16 mmHg, in one month after surgery 38,96±14,16 mmHg. No complications registered. In the second group, median DIVS 0,4 with additional shunting 3,3±0 mm. Baseline SPRV 66,05±17,27 mmHg, with the decline in one month after transcatheter closure to 57,4±17,35 mmHg. During the early post-surgery period, in 2 patients of group 2 there was pulmonary crisis, treated with inhalatory iloprost. Conclusion. Acute vasoreactive test is effective criteria of operability assessment of inborn left-to-right blood shunting, complicated by pulmonary arterial hypertension, in pediatrics.

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Van Maldergem, Lionel, Eric Jauniaux, Catherine Fourneau e Yves Gillerot. "Genetic Causes of Hydrops Fetalis". Pediatrics 89, n. 1 (1 gennaio 1992): 81–86. http://dx.doi.org/10.1542/peds.89.1.81.

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A series of 1790 fetal and neonatal autopsies performed between 1976 and 1988 were retrospectively investigated for the presence of hydrops. Thirty (5.5%) and 35 (2.8%) cases of hydrops were found in the groups of fetal and neonatal autopsies, respectively. Genetic causes accounted for 35%. A careful search for previously reported genetic causes of fetal hydrops indicated 64 different etiologies. Twenty-one of them were not mentioned in the previous reviews: these include 9 skeletal dysplasias, 5 inborn errors of metabolism, 3 autosomal recessive, 3 autosomal dominant conditions, and 1 chromosomal abnormality

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Mordaunt, Dylan, David Cox e Maria Fuller. "Metabolomics to Improve the Diagnostic Efficiency of Inborn Errors of Metabolism". International Journal of Molecular Sciences 21, n. 4 (11 febbraio 2020): 1195. http://dx.doi.org/10.3390/ijms21041195.

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Early diagnosis of inborn errors of metabolism (IEM)—a large group of congenital disorders—is critical, given that many respond well to targeted therapy. Newborn screening programs successfully capture a proportion of patients enabling early recognition and prompt initiation of therapy. For others, the heterogeneity in clinical presentation often confuses diagnosis with more common conditions. In the absence of family history and following clinical suspicion, the laboratory diagnosis typically begins with broad screening tests to circumscribe specialised metabolite and/or enzyme assays to identify the specific IEM. Confirmation of the biochemical diagnosis is usually achieved by identifying pathogenic genetic variants that will also enable cascade testing for family members. Unsurprisingly, this diagnostic trajectory is too often a protracted and lengthy process resulting in delays in diagnosis and, importantly, therapeutic intervention for these rare conditions is also postponed. Implementation of mass spectrometry technologies coupled with the expanding field of metabolomics is changing the landscape of diagnosing IEM as numerous metabolites, as well as enzymes, can now be measured collectively on a single mass spectrometry-based platform. As the biochemical consequences of impaired metabolism continue to be elucidated, the measurement of secondary metabolites common across groups of IEM will facilitate algorithms to further increase the efficiency of diagnosis.

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Mann, Gary J. "Managers, groups, and people". Health Care Management Review 13, n. 4 (1988): 43–48. http://dx.doi.org/10.1097/00004010-198823000-00006.

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Moreland, Richard. "Teaching People About Groups". Small Group Research 44, n. 4 (27 maggio 2013): 355–59. http://dx.doi.org/10.1177/1046496413488803.

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McKenna, Stephen J., Sumer Jabri, Zoran Duric, Azriel Rosenfeld e Harry Wechsler. "Tracking Groups of People". Computer Vision and Image Understanding 80, n. 1 (ottobre 2000): 42–56. http://dx.doi.org/10.1006/cviu.2000.0870.

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Lugones-Sanchez, Cristina, Maria Antonia Sanchez-Calavera, Irene Repiso-Gento, Esther G. Adalia, J. Ignacio Ramirez-Manent, Cristina Agudo-Conde, Emiliano Rodriguez-Sanchez, Manuel Angel Gomez-Marcos, Jose I. Recio-Rodriguez e Luis Garcia-Ortiz. "Effectiveness of an mHealth Intervention Combining a Smartphone App and Smart Band on Body Composition in an Overweight and Obese Population: Randomized Controlled Trial (EVIDENT 3 Study)". JMIR mHealth and uHealth 8, n. 11 (26 novembre 2020): e21771. http://dx.doi.org/10.2196/21771.

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Abstract (sommario):

Background Mobile health (mHealth) is currently among the supporting elements that may contribute to an improvement in health markers by helping people adopt healthier lifestyles. mHealth interventions have been widely reported to achieve greater weight loss than other approaches, but their effect on body composition remains unclear. Objective This study aimed to assess the short-term (3 months) effectiveness of a mobile app and a smart band for losing weight and changing body composition in sedentary Spanish adults who are overweight or obese. Methods A randomized controlled, multicenter clinical trial was conducted involving the participation of 440 subjects from primary care centers, with 231 subjects in the intervention group (IG; counselling with smartphone app and smart band) and 209 in the control group (CG; counselling only). Both groups were counselled about healthy diet and physical activity. For the 3-month intervention period, the IG was trained to use a smartphone app that involved self-monitoring and tailored feedback, as well as a smart band that recorded daily physical activity (Mi Band 2, Xiaomi). Body composition was measured using the InBody 230 bioimpedance device (InBody Co., Ltd), and physical activity was measured using the International Physical Activity Questionnaire. Results The mHealth intervention produced a greater loss of body weight (–1.97 kg, 95% CI –2.39 to –1.54) relative to standard counselling at 3 months (–1.13 kg, 95% CI –1.56 to –0.69). Comparing groups, the IG achieved a weight loss of 0.84 kg more than the CG at 3 months. The IG showed a decrease in body fat mass (BFM; –1.84 kg, 95% CI –2.48 to –1.20), percentage of body fat (PBF; –1.22%, 95% CI –1.82% to 0.62%), and BMI (–0.77 kg/m2, 95% CI –0.96 to 0.57). No significant changes were observed in any of these parameters in men; among women, there was a significant decrease in BMI in the IG compared with the CG. When subjects were grouped according to baseline BMI, the overweight group experienced a change in BFM of –1.18 kg (95% CI –2.30 to –0.06) and BMI of –0.47 kg/m2 (95% CI –0.80 to –0.13), whereas the obese group only experienced a change in BMI of –0.53 kg/m2 (95% CI –0.86 to –0.19). When the data were analyzed according to physical activity, the moderate-vigorous physical activity group showed significant changes in BFM of –1.03 kg (95% CI –1.74 to –0.33), PBF of –0.76% (95% CI –1.32% to –0.20%), and BMI of –0.5 kg/m2 (95% CI –0.83 to –0.19). Conclusions The results from this multicenter, randomized controlled clinical trial study show that compared with standard counselling alone, adding a self-reported app and a smart band obtained beneficial results in terms of weight loss and a reduction in BFM and PBF in female subjects with a BMI less than 30 kg/m2 and a moderate-vigorous physical activity level. Nevertheless, further studies are needed to ensure that this profile benefits more than others from this intervention and to investigate modifications of this intervention to achieve a global effect. Trial Registration Clinicaltrials.gov NCT03175614; https://clinicaltrials.gov/ct2/show/NCT03175614. International Registered Report Identifier (IRRID) RR2-10.1097/MD.0000000000009633

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Grebenyuk, L., A. Griaznykh, R. Kuchin e D. Koryukin. "PHYSIOLOGICAL ASPECTS OF SKIN COVER AS ADAPTATION IN RESPONSE TO VARIOUS FACTORS". Human Sport Medicine 19, n. 2 (15 luglio 2019): 117–24. http://dx.doi.org/10.14529/hsm190215.

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Aim. The article deals with the study of lower limb skin elasticity, acoustic anisotropy, and structure in response to its prolonged stretching in people with inborn limb shortening and highly-skilled Greco-Roman wrestlers. Materials and methods. The study involved people with inborn limb shortening aged 7–35 years (1st group), highly skilled Greco-Roman wrestlers (2nd group), and their peers not engaged in the sport (3rd group). We assessed the elasticity and thickness of shin skin during distraction and after treatment. The effect of leg position on the acoustic anisotropy of the skin was studied by using the ASA acoustic analyser. Skin structure was studied non-invasively by using medical ultrasound. Results. We established age-related dependency of skin elasticity in the affected shin: before distraction, this parameter achieved its maximum of 2.1 % in the first group in participants aged 12–14 years. After treatment maximum values were revealed in participants aged 7–8 years. Distraction resulted in the expected decrease in elasticity. In the group of teenagers, elasticity decreased by 11.1 times by the 45th day of distraction and was equal 0.02 ± 0.01 %. In adults, distraction was equal 0.10 ± 0.06 % by the 60th day. The approximation of this parameter for shin skin depending on age is described by a polynomial equation and, after equalizing the length of the lower limbs, by a linear equation. According to medical ultrasound data, skin thickness in the lengthened shin increased significantly at all stages of treatment. The increase in skin thickness was registered in wrestlers compared to non-athletes. Conclusion. Mechanical impact (distraction) and physical stress (regular sports activity) provoke the structural and functional adaptation of lower limb skin. Position change results in the transformation of acoustic anisotropy.

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Musaeva, E. Ya, S. N. Dvorkina, E. A. Deordieva e A. Yu Shcherbina. "VACCINATION IN CHILDREN WITH INBORN ERRORS OF IMMUNITY: MODERN SAFETY AND EFFECTIVENESS APPROACHES". Pediatria. Journal named after G.N. Speransky 103, n. 2 (11 aprile 2024): 93–101. http://dx.doi.org/10.24110/0031-403x-2024-103-2-93-101.

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Primary immunodeficiencies (PIDs) or inborn errors of immunity (IEIs) are a heterogeneous group of genetically-determined diseases that are divided into ten groups according to modern classification. The high heterogeneity in clinical manifestations and pathogenetic mechanisms as well as wide use of immunoglobulin replacement therapy, various immunosuppressant and anti-inflammatory drugs make it difficult to decide on the safety and efficacy of vaccination for patients with IEIs. There are no universally accepted recommendations for vaccine prophylaxis among patients with IEIs both in Russia and Worldwide due to the lack of controlled clinical trials available. Authors have attempted summarizing the bibliographical sources available on the safety and efficacy of vaccine prophylaxis in individuals with different forms of IEIs considering the Authors’ own opinion raising the importance of controlled clinical trials.

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Daubigney, Jean-Pierre. "La théorie des groupes non compétitifs". Articles 55, n. 2 (29 giugno 2009): 246–61. http://dx.doi.org/10.7202/800827ar.

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In this paper, the author describes and criticizes the theory of non-competitive groups. According to this theory, the non-competitivity of social groups refers to the existence and the reproduction by heredity of a bi-univocal correspondence between the hierarchy of social groups and the hierarchy of employments. Such a relation comes from the fact that the social origins determine the level of education, the distribution of inborn qualities, and the preference functions of individuals. It is also the result of the demographic reproduction pattern of social groups. In such conditions, the incomes hierarchy is the result as well as the means of the hereditary reproduction of social structure and of non-competitivity. Two basic criticisms can be formulated. First, this theory is unable to justify most of the relation underlying the analysis. Second, the proposed explanation model is unable to account for the contemporary ways of non-competitivity such as indicated by the statistics on social mobility.

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Jacobs, George M. "Review of Mindset". International Journal of Pedagogy and Teacher Education 3, n. 1 (2 maggio 2019): 31. http://dx.doi.org/10.20961/ijpte.v3i1.22702.

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<p>Educators can benefit from occasionally stepping outside our profession to look for new ideas. <em>Mindset: Changing the Way You Think to Fulfil Your Potential </em>is a book that was written by a well-regarded psychology professor and has sold more than a million copies. The book’s central premise is that people tend toward one of two mindsets: a fixed mindset, which sees ability as inborn and largely unmodifiable; and a growth mindset, which sees ability as something people can develop by making persistent effort and learning new strategies. The present book review begins with explaining the two mindsets. Then, questions about mindset are answered. Next, in the review’s longest portions, suggestions from the book which might be useful for teachers are shared. These suggestions may help students become more successful learners, not to mention better people overall. Finally, the reviewer recommends that when the author and her colleagues do further work on mindsets, they might wish to examine mindsets through a more collective, sociological perspective than from an individual, psychological view.</p>

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Cossu, Marcello, Roberta Pintus, Marco Zaffanello, Michele Mussap, Fabiola Serra, Maria Antonietta Marcialis e Vassilios Fanos. "Metabolomic Studies in Inborn Errors of Metabolism: Last Years and Future Perspectives". Metabolites 13, n. 3 (18 marzo 2023): 447. http://dx.doi.org/10.3390/metabo13030447.

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The inborn errors of metabolism (IEMs or Inherited Metabolic Disorders) are a heterogeneous group of diseases caused by a deficit of some specific metabolic pathways. IEMs may present with multiple overlapping symptoms, sometimes difficult delayed diagnosis and postponed therapies. Additionally, many IEMs are not covered in newborn screening and the diagnostic profiling in the metabolic laboratory is indispensable to reach a correct diagnosis. In recent years, Metabolomics helped to obtain a better understanding of pathogenesis and pathophysiology of IEMs, by validating diagnostic biomarkers, discovering new specific metabolic patterns and new IEMs itself. The expansion of Metabolomics in clinical biochemistry and laboratory medicine has brought these approaches in clinical practice as part of newborn screenings, as an exam for differential diagnosis between IEMs, and evaluation of metabolites in follow up as markers of severity or therapies efficacy. Lastly, several research groups are trying to profile metabolomics data in platforms to have a holistic vision of the metabolic, proteomic and genomic pathways of every single patient. In 2018 this team has made a review of literature to understand the value of Metabolomics in IEMs. Our review offers an update on use and perspectives of metabolomics in IEMs, with an overview of the studies available from 2018 to 2022.

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Králíková, Jitka, e Hana Válková. "BMI Indicators in Children with Intellectual Disabilities". Studia sportiva 13, n. 1 (27 giugno 2019): 85–97. http://dx.doi.org/10.5817/sts2019-1-9.

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Nowadays, the problematics of obesity in people with intellectual disabilities, who are limited by the handicap in their everyday lives, is getting more and more to the forefront. Currently, there is a lack of real data for the population of children with intellectual disabilities.The aim of the research is to find out whether children with intellectual disabilities in early and middle adolescence have a tendency to obesity, how many children have a normal weight in comparison with the intact population, what are the differences in the BMI indicators between boys and girls, if any of the development stages in boys and girls is connected with obesity, what is the proportion of each level of intellectual disabilities between boys and girls and if there is a bigger tendency to obesity in a certain level of intellectual disability.Quantitative and comparative research with deduction were the used methods. The machine InBody was used for finding out the BMI indicators. In total, 35 children from two special elementary schools participated in the research.The result of the research is as follows: More than half of the children with intellectual disabilities in early and middle adolescence have the weight in the norm of the intact population of the same age. In boys, there is an assumption that they will have a lower BMI in middle adolescence than they had in the previous stage of early adolescence. On the contrary, in girls, there is an assumption that their BMI will be higher in middle adolescence than it was in their previous stage of early adolescence. Obesity in boys is connected with early adolescence and the mild and the moderate level of intellectual disabilities. In girls, obesity is connected with middle adolescence and the mild level of intellectual disabilities.The contribution for practice is the finding that children with intellectual disabilities have similar BMI indicators as healthy Czech children because obesity is found in the same degree in both groups.

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Namchaitaharn, Suntaree, Naphatchamon Pimpiwan e Suchaorn Saengnipanthkul. "Breastfeeding Promotion and Nursing Care for Infants with Cleft Palate and/or Cleft Lip in Northeastern Craniofacial Center, Thailand". Open Nursing Journal 15, n. 1 (5 ottobre 2021): 149–55. http://dx.doi.org/10.2174/1874434602115010149.

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Background: The common feeding problems in infants with Cleft Palate (CP) and/or Cleft Lip and Palate (CLP) are the inability to suck and swallow breastmilk. Difficulties in feeding may compromise normal growth and disrupt the bonding process. Objective: To evaluate the treatment and breastfeeding rate in infants with CP and CLP. Methods: A retrospective study of infants with CP and CLP who were admitted to the postpartum ward between July 2017 and June 2019 was conducted. Demographic data, type of feeding, nursing activities, and duration of breastfeeding after discharge were collected. Results: A total of 35 infants were included in the study. Twenty-seven cases were non-syndromic complete CLP (77.2%). On admission only 15 infants (42.8%) received breastmilk and alternative feeding techniques were applied for 26 (74.3%) infants. Breastfeeding promotion and nursing care were provided to mothers and infants by an interdisciplinary team at the Craniofacial Center. The median Length of Stay (LOS) was 8 days (range 5-9 days) and infants born at the affiliated hospital (inborn) had a significantly shorter LOS compared to infants referred from other health centers (p=0.019). None of the inborn groups received infant formula. The breastfeeding rate in all groups was 100% at discharge. Exclusive breastfeeding rates at 2-, 4-, and 6-months follow-up were 82.8%, 42.8%, and 31.4%, respectively. Conclusion: Breastfeeding promotion, education, and nursing care from an interdisciplinary team resulted in an improved ability of mothers to breastfeed infants with CLP, particularly in non-syndromic CLP. The exclusive breastfeeding rate after 6-months in this study was higher than in previous studies.

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O'Keefe, Christine, Bartlomiej P. Przychodzen, Azim M. Mohamedali, Ghulam J. Mufti, Michael McDevitt e Jaroslaw P. Maciejewski. "Inborn Genomic Variation as Predisposing Factors to Myeloid Malignancies." Blood 114, n. 22 (20 novembre 2009): 1590. http://dx.doi.org/10.1182/blood.v114.22.1590.1590.

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Abstract Abstract 1590 Poster Board I-616 Single nucleotide polymorphism arrays (SNP-A) are increasingly accepted as a karyotyping tool, but with systematic application of this technology to study clonal somatic chromosomal lesion came a realization as to how widespread are copy number variations (CNV) and copy-number neutral runs of homozygosity (ROH) through the human genome. Recognition of recurrent CNVs and ROH is of importance for distinction of truly somatic lesions but clearly both ROH and CNVs themselves could constitute risk factors for development of MDS and AML prediction as sites frequently affected by these changes could constitute fragile sites for chromosomal breaks and recombination events. Alternatively these inherited genomic variants could affect expression of corresponding genes and alter regulatory elements. They can physically disrupt a gene, potentially creating new isoforms and can have a subtle effect on gene expression, either through variable penetrance of gene dosage effects or through interaction between the CNV/ROH and the genetic background. As all ROH is unlikely to be explained by autozygosity, meiotic errors or early embryonic mitotic events could be responsible. The role of CNVs in disease, in particular immune-related disorders, has become increasingly apparent, while acquired ROH is well-recognized as playing a role in carcinogenesis and malignant evolution. However, CNVs and inborn ROH as predisposing factors in myeloid malignancies has not been explored in depth. SNP-A (for example Affymetrix 6.0 arrays) offer an opportunity to systematically investigate not only somatic unbalanced translocations but also copy neutral loss of heterozygosity (CN-LOH), including ROH. To determine how CNVs and inborn ROH may affect predisposition to myeloid malignancies, we first studied an large cohort of control individuals (N=995) from internal and publicly-available sources. We identified 261 CNVs distributed across the entire genome; 15 were unique to our cohort and had not been previously reported. The remaining CNVs were verified against the Database of Genomic Variants (http://projects.tcag.ca/variation/) and their frequency was established. We also identified 153 non-clonal regions of ROH in the normal cohort (9.8%), distributed across all chromosomes and mapped frequently occurring ROH. No correlation was found between chromosome size and size of ROH on that chromosome. ROH could be divided into two groups: interstitial (N=147) and telomeric (N=6). Interstitial ROH ranged in size from 0.29-64.9Mb with a median of 7.2Mb; the rare telomeric germline ROH was 2.5-13.2Mb with a median of 5.8Mb. There were 30 recurrent regions of ROH; the most frequent (at 0.4%) were at 4q13.1-q13.3 and 5q15-q21.1. We concluded that interstitial ROH<24.5Mb and telomeric ROH<13.2Mb most likely reflected a germline event. Using this information as a reference we next investigated a large cohort of patients with MDS, MDS/MPN (N=395) and secondary AML (N=130). We identified several CNVs significantly overrepresented in each cohort. For MDS, gains at 3q26.1 (p<.0001), 4q13.2 (p<.0001), 12p11.1 (p<.0001), 15q11.2 (p=.015) 22q11.22 (p=.0008) and losses at 14q11.2 (p<.0001) and 1q21 (p<.0001) were significantly more frequent. In sAML, gain at 22q11.22 (p<.0001) and loss of 4q13.2, 7q34, 8p11.23 and 14q11.2 (all p<.0001) were more frequent than in normal controls. Regions of genomic structural instability, such as fragile sites or segmental duplications, are commonly associated with CNVs. The genomic architecture of each region was investigated with the UCSC Genome Browser (http://www.genome.ucsc.edu/cgi-bin/hgGateway). Overrepresented CNV were associated with regions harboring segmental duplications (1q21, 4q13.2, 12p11.1, 15q11.2, 22q11.22) or repetitive gene families (T cell receptor loci; 7p14.1, 7q34, 14q11.2). We also identified germline ROH in the patient cohorts. ROH at 11q14.1-q14.2 was more frequent in patients with MDS and sAML (6% MDS; 12% AML vs 0%, p=.02); these patients had high-risk disease and a normal karyotype or one chromosomal abnormality. In sAML, several regions were enriched in patients including 1q25.2-q25.3, 13q11q12.13 and 21q21.1 (all N=2; p=0.01). We conclude, genomic variations once thought to be pathologically silent is now recognized as potential predisposing pathogenic factor in disease; we have demonstrate that specific CNVs and ROH can be associated with myeloid malignancies. It is possible that the presence of CNV or LOH predisposes to somatic chromosomal aberrations and points towards fragile sites. Disclosures Maciejewski: Taligen: Membership on an entity's Board of Directors or advisory committees; Genzyme: Research Funding; Celgene: Speakers Bureau; Eisai: Membership on an entity's Board of Directors or advisory committees.

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Xie, Yuhan, Gang Peng, Hongyu Zhao e Curt Scharfe. "Association of Maternal Age and Blood Markers for Metabolic Disease in Newborns". Metabolites 14, n. 1 (20 dicembre 2023): 5. http://dx.doi.org/10.3390/metabo14010005.

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Pregnancy at an advanced maternal age is considered a risk factor for adverse maternal, fetal, and neonatal outcomes. Here we investigated whether maternal age could be associated with differences in the blood levels of newborn screening (NBS) markers for inborn metabolic disorders on the Recommended Universal Screening Panel (RUSP). Population-level NBS data from screen-negative singleton infants were examined, which included blood metabolic markers and covariates such as age at blood collection, birth weight, gestational age, infant sex, parent-reported ethnicity, and maternal age at delivery. Marker levels were compared between maternal age groups (age range: 1544 years) using effect size analyses, which controlled for differences in group sizes and potential confounding from other covariates. We found that 13% of the markers had maternal age-related differences, including newborn metabolites with either increased (Tetradecanoylcarnitine [C14], Palmitoylcarnitine [C16], Stearoylcarnitine [C18], Oleoylcarnitine [C18:1], Malonylcarnitine [C3DC]) or decreased (3-Hydroxyisovalerylcarnitine [C5OH]) levels at an advanced maternal age (≥35 years, absolute Cohen’s d > 0.2). The increased C3DC levels in this group correlated with a higher false-positive rate in newborn screening for malonic acidemia (p-value < 0.001), while no significant difference in screening performance was seen for the other markers. Maternal age is associated with inborn metabolic differences and should be considered together with other clinical variables in genetic disease screening.

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Chang-Rabley, Emma, Menno C. van Zelm, Emily E. Ricotta e Emily S. J. Edwards. "An Overview of the Strategies to Boost SARS-CoV-2-Specific Immunity in People with Inborn Errors of Immunity". Vaccines 12, n. 6 (18 giugno 2024): 675. http://dx.doi.org/10.3390/vaccines12060675.

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The SARS-CoV-2 pandemic has heightened concerns about immunological protection, especially for individuals with inborn errors of immunity (IEI). While COVID-19 vaccines elicit strong immune responses in healthy individuals, their effectiveness in IEI patients remains unclear, particularly against new viral variants and vaccine formulations. This uncertainty has led to anxiety, prolonged self-isolation, and repeated vaccinations with uncertain benefits among IEI patients. Despite some level of immune response from vaccination, the definition of protective immunity in IEI individuals is still unknown. Given their susceptibility to severe COVID-19, strategies such as immunoglobulin replacement therapy (IgRT) and monoclonal antibodies have been employed to provide passive immunity, and protection against both current and emerging variants. This review examines the efficacy of COVID-19 vaccines and antibody-based therapies in IEI patients, their capacity to recognize viral variants, and the necessary advances required for the ongoing protection of people with IEIs.

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