Gotowa bibliografia na temat „Pediatric respiratory diseases Case studies”

Introduction: Epidemiological studies about case distribution and survival in PICU is important to do. Knowledge of these epidemiological studies can assist in decision-making to improve patient quality of care. So far there is no data about the case distribution and survival rate of the patients in the PICU in Banjarmasin, Indonesia. This study aims to provide an overview of case distribution and survival rates of patients treated at the PICU of Ulin Hospital Banjarmasin. Methods: A retrospective study was conducted at the PICU of Ulin Hospital Banjarmasin. Data was taken from patients’ records from January 2017 to December 2018. Results: A total of 202 patients were admitted to the PICU, males 109 and females 93. The mortality rate was 17% with a survival rate, 83% with a mean length of stay of 10 days. The most common patient diagnosis was pneumonia 23%, meningoencephalitis 10%, and dengue shock syndrome 6%. The system commonly involved was respiratory system 26%, central nervous system 17%, and infection 13%. The median length of stay for overall admission was 9 days with a mean of 10 days. The cardiovascular and respiratory systems tend to have lower survival rates, 78%, and 79% respectively. Conclusions: This study shows that respiratory, neurological, and infectious diseases are the most common diseases that cause children to be admitted to the PICU. The mortality rate in this study was 17% with a mean length of stay of 10 days. It is necessary to focus on medical facilities and interventions to reduce respiratory-related mortality.

Pediatric Palliative Care (PPC) addresses children, adolescents, and young adults with a broad spectrum of underlying diseases. A substantial proportion of these patients have irreversible conditions accompanied by Severe Neurological Impairment (SNI). For the treatment of pain and dyspnea, strong opioids are widely used in PPC. Nonetheless, there is considerable uncertainty regarding the opioid-related side effects in pediatric patients with SNI, particularly concerning Opioid-Induced Respiratory Depression (OIRD). Research on pain and OIRD in pediatric patients with SNI is limited. Using scoping review methodology, we performed a systematic literature search for OIRD in pediatric patients with SNI. Out of n = 521 identified articles, n = 6 studies were included in the review. Most studies examined the effects of short-term intravenous opioid therapy. The incidence of OIRD varied between 0.13% and 4.6%; besides SNI, comorbidities, and polypharmacy were the most relevant risk factors. Additionally, three clinical cases of OIRD in PPC patients receiving oral or transdermal opioids are presented and discussed. The case reports indicate that the risk factors identified in the scoping review also apply to adolescents and young adults with SNI receiving low-dose oral or transdermal opioid therapy. However, the risk of OIRD should never be a barrier to adequate symptom relief. We recommend careful consideration and systematic observation of opioid therapy in this population of patients.

Background: Respiratory tract infections are a major cause of morbidity and mortality in children. Therefore, it is imperative that research studies be conducted to determine the pattern of respiratory diseases in the pediatric age group. Present study was done to determine the outcome, frequency and pattern of respiratory infections in children admitted in a tertiary care hospital.Methods: This prospective, cross-sectional study was conducted from September 2014 to February 2016. Data was analyzed on SPSS 20.0. P value of <0.05 was observed noteworthy.Results: A total of 286 children were admitted with respiratory diseases. Out of these there were 180 cases of Pneumonia. Peak occurrence of Pneumonia was observed in first trimester of the year.Conclusions: Efforts are required to devise strategies to decrease the burden of respiratory diseases in children.

The purpose of this paper is to review clinical studies on hypophosphatemia in pediatric intensive care unit patients with a view to verifying prevalence and risk factors associated with this disorder. We searched the computerized bibliographic databases Medline, Embase, Cochrane Library, and LILACS to identify eligible studies. Search terms included critically ill, pediatric intensive care, trauma, sepsis, infectious diseases, malnutrition, inflammatory response, surgery, starvation, respiratory failure, diuretic, steroid, antiacid therapy, mechanical ventilation. The search period covered those clinical trials published from January 1990 to January 2004. Studies concerning endocrinological disorders, genetic syndromes, rickets, renal diseases, anorexia nervosa, alcohol abuse, and prematurity were not included in this review. Out of 27 studies retrieved, only 8 involved pediatric patients, and most of these were case reports. One clinical trial and one retrospective study were identified. The prevalence of hypophosphatemia exceeded 50%. The commonly associated factors in most patients with hypophosphatemia were refeeding syndrome, malnutrition, sepsis, trauma, and diuretic and steroid therapy. Given the high prevalence, clinical manifestations, and multiple risk factors, the early identification of this disorder in critically ill children is crucial for adequate replacement therapy and also to avoid complications.

Diarrhea and respiratory diseases are the leading causes of morbidity and mortality among <5-year-olds worldwide, but systematic data are not available from Mauritania. We conducted a hospital-based retrospective study. Data on admissions to Mauritania’s National Referral Hospital (the main pediatric referral center in the country), due to diarrhea and respiratory diseases, during 2011–2014, were analyzed. A total of 3695 children <5 years were hospitalized during this period; 665 (18.0%) due to respiratory diseases, and 829 (22.4%) due to diarrhea. Case fatality rates in the respiratory diseases and diarrhea groups were 18.0% (120/665) and 14.1% (117/829), respectively. The highest frequency of deaths due to diarrhea occurred in the age group 2–5 years (16/76; 21.0%), and due to respiratory diseases in the age group 6–12 months (32/141; 22.6%). We conclude that case fatality rates caused by respiratory diseases and diarrhea are extremely high in children hospitalized at the National Referral Hospital. These data call for intensified efforts to reduce deaths among hospitalized Mauritanian children, and also for integrated control measures to prevent and reduce the burden of both diseases. Additional studies are needed to show the effectiveness of the introduction of vaccination programs for pneumococcal diseases and rotavirus infection in the child population, which were launched in November 2013 and December 2014, respectively.

Abstract Detailed data on clinical presentations and outcomes of children with COVID-19 in Europe are still lacking. In this descriptive study, we report on 130 children with confirmed COVID-19 diagnosed by 28 centers (mostly hospitals), in 10 regions in Italy, during the first months of the pandemic. Among these, 67 (51.5%) had a relative with COVID-19 while 34 (26.2%) had comorbidities, with the most frequent being respiratory, cardiac, or neuromuscular chronic diseases. Overall, 98 (75.4%) had an asymptomatic or mild disease, 11 (8.5%) had moderate disease, 11 (8.5%) had a severe disease, and 9 (6.9%) had a critical presentation with infants below 6 months having significantly increased risk of critical disease severity (OR 5.6, 95% CI 1.3 to 29.1). Seventy-five (57.7%) children were hospitalized, 15 (11.5%) needed some respiratory support, and nine (6.9%) were treated in an intensive care unit. All recovered. Conclusion:This descriptive case series of children with COVID-19, mostly encompassing of cases enrolled at hospital level, suggest that COVID-19 may have a non-negligible rate of severe presentations in selected pediatric populations with a relatively high rates of comorbidities. More studies are needed to further understand the presentation and outcomes of children with COVID-19 in children with special needs. What is Known:• There is limited evidence on the clinical presentation and outcomes of children with COVID-19 in Europe, and almost no evidence on characteristics and risk factors of severe cases. What is New:• Among a case series of 130 children, mostly diagnosed at hospital level, and with a relatively high rate (26.2%) of comorbidities, about three-quarter had an asymptomatic or mild disease.• However, 57.7% were hospitalized, 11.5% needed some respiratory support, and 6.9% were treated in an intensive care unit.

The red blood cell distribution width (RDW) is a simple and inexpensive parameter, which reflects the degree of heterogeneity of erythrocyte volume. This retrospective study aimed to detect the correlation between RDW and respiratory diseases and analyzed all patients admitted to the Pediatric Intensive Care Unit (PICU) at Tobruk Medical Center between January 2017 and January 2019. All patients below 16 years old with an available baseline RDW value on admission to PICU and had had a respiratory disease and needed oxygen therapy were eligible for inclusion. Of the 76 patients studied, 36.8% had elevated RDW. The median age was 97.5 days old, 60.5% were male, and 39.4% females. All patients were Libyan and 97.4% from Tobruk. Causes of admission were 52.6% bronchopneumonia, 29% acute broncholitis, 10.5% aspiration pneumonia, 5.3% bronchial asthma, and CHD with apnea were 2.7%. We noted a respiratory retraction in most of the cases, grunting and retraction in 35%, and cyanosis in 28% of cases. Reported complications of this study were sepsis 41%, aspiration 24%, pneumothorax 10.5%, convulsion 9%, apnea 8%, pleural effusion 7% and renal failure 1%. 62% of our patients had pulmonary infiltration on chest x-ray. Regarding the route of oxygen therapy, 60.5% were treated with nasal prongs, 38% with masks, and 1.3% needed a mechanical ventilator. 29% of patients received steroids. The RDW mean was 14.499 and there were significant correlations between RDW and signs of respiratory distress, length of hospital stay, and duration of oxygen therapy. 98% of our patients were discharged. We conclude there is a strong correlation between RDW and respiratory diseases as pneumonia, acute broncholitis and we recommend farther studies to study the correlation between RDW and other organ diseases in the pediatric age group.

The study of nasal ciliary beat frequency (CBF) and ultrastructure may contribute to the understanding of pathognomonic cases of male infertility associated with defects in sperm motility. This study was designed to report a particular case of male infertility, characterized by the association of two respiratory autosomal recessive genetic diseases (alpha-1-antitrypsin deficiency [AAT-D] and primary ciliary dyskinesia [PCD]). A 39-year-old patient with complete sperm immotility, AAT-D, and bronchiectasis was studied in the Laboratory of Male Fertility, the Department of Urology, the Respiratory Center of a Pediatric Hospital, and in the Department of Clinical Medicine of a Rehabilitation Respiratory Hospital. Family history, physical examination, hormonal analysis, microbial assays, semen analysis, nasal ciliary function, and structure study by digital high-speed video photography and transmission electron microscopy are described. A noninvasive nasal biopsy to retrieve ciliated epithelium lining the inferior surface of the inferior nasal turbinates was performed and CBF was determined. Beat pattern was slightly curved and rigid, not wide, and metacronic in all the observed fields analyzed. CBF was 8.2 Hz in average (reference value, 10–15 Hz) Ultrastructural assay revealed absence of the inner dynein arms in 97% of the cilia observed. The final infertility accurate diagnosis was achieved by the study of nasal CBF and ultrastructure contributing to the patient health management and genetic counseling while deciding fatherhood. Beyond this particular case, the present report may open a new field of studies in male infertility, mainly in cases of asthenozoospermia.

Case Presentation A previously healthy eight-month-old girl was admitted to the pediatric intensive care unit at Stollery Children's Hospital (Edmonton, Alberta) following a waxing and waning course of respiratory distress. She had initially presented 11 days earlier to the emergency room with stridor and a brassy cough, and laryngotracheobronchitis was diagnosed. Treatment with racemic adrenaline and one dose of oral dexamethasone was effective and she was discharged after overnight observation. Nasopharyngeal aspirate was negative by direct fluorescent antibody and by viral culture for influenza A and B, parainfluenza and respiratory syncytial virus. Over the next three days, the child had increasing stridor and was admitted and again treated with racemic adrenaline and a four-day course of oral dexamethasone. She was subsequently discharged. White lesions were noted on the tongue and were treated with topical nystatin. Four days later, the child presented to the emergency room with recurrence of stridor and fever and new onset of drooling. She had a respiratory rate of 44 breaths/min, heart rate of 170 beats/min, blood pressure of 90/58 mmHg, oxygen saturation of 98% and temperature of 39.6°C. She was in moderate respiratory distress, with marked stridor. Examination of the oropharynx revealed ulcerative lesions on the anterior tongue, hard and soft palate, and posterior pharynx. Laboratory studies revealed a white blood cell count of 18.1x109/L (74% neutrophils, 23% lymphocytes and 3% monocytes). Other hematological values were normal. A laryngobronchoscopy was performed and revealed that the mucosa of the laryngopharynx was studded with discrete white lesions on a background of mucosal inflammation with severe reduction of airway calibre requiring intubation (Figure 1). The subglottis and the tracheobronchial tree were severely inflamed but had no discrete lesions.

BACKGROUND: Acute respiratory infections (ARI) are one of the prevalent pediatric diseases. Coinfections of respiratory viruses and atypical bacterial respiratory pathogens are common.AIM: This study aimed to determine the prevalence of co-infection between respiratory pathogens including viruses, bacteria and atypical bacteria in a sample of Egyptian children presenting with symptoms of acute respiratory tract infection.METHODS: This one-year prospective cohort study conducted in Abo El Rish Pediatric Hospital, Cairo University over one year included children presenting with symptoms of acute respiratory infection. Enrolled children were subjected to nasopharyngeal swabs or throat swabs and then processed to detect viral, bacterial and atypical bacterial causative agents by culture), retrotranscription polymerase, Monoplex polymerase chain reaction (PCR) and Multiplex PCR.RESULTS: Viral etiological agents were detected in 20 cases (20.8%), while 76 patients (79.2%) had no definite viral aetiology. The most abundant virus detected was Rhinovirus in 36 (27.3%), followed by 21 (15.9%) were positive for RSV, 12 (9.1%) were positive for HMPV, 6 (4.5%) were positive for adenovirus and 3 (2.3%) were positive for influenza B. For Atypical bacterial causes Mycoplasma were positive for 9 (6.8%) cases and one case was positive for Bordetella parapertussis. Viral and atypical bacteria Co infection were detected in 14 (10.6%) of cases.CONCLUSION: These results suggest that coinfection with bacteria or atypical bacteria in children with acute respiratory tract infection is common and this co-infection can induce serious illness. The multiplex reverse-transcriptase polymerase chain reaction should become an essential tool for epidemiological studies and can fill the gap between clinical presentation and definitive diagnosis.

RESUMO Tratando-se a asma de uma doença respiratória, desde há várias décadas que tem sido abordada a hipótese de que factores ambientais, nomeadamente os relacionados com a qualidade do ar inalado, possam contribuir para o seu agravamento. Para além dos aeroalergenos, outros factores ambientais como a poluição atmosférica estarão associados às doenças respiratórias. O ar respirado contém uma variedade de poluentes atmosféricos, provenientes quer de fontes naturais quer de origem antropogénica, nomeadamente de actividades industriais, domésticas ou das emissões de veículos. Estes poluentes, tradicionalmente considerados como um problema de foro ambiental, têm sido cada vez mais encarados como um problema de saúde pública. Também a qualidade do ar interior, tem sido associada a queixas respiratórias, não só em termos ocupacionais mas também em exposições domésticas. Dentro dos principais poluentes, encontramos a matéria particulada (como as PM10), o O3, NO2, e os compostos orgânicos voláteis (COVs). Se é verdade que os três primeiros têm como principais fontes de exposição a combustão fóssil associada aos veículos automóveis, já os COVs (como o benzeno, tolueno, xileno, etilbenzeno e formaldeído) são poluentes mais característicos do ar interior. Os mecanismos fisiopatológicos subjacentes à agressão dos poluentes do ar não se encontram convenientemente esclarecidos. Pensa-se que após a sua inalação, induzam um grau crescente de stress oxidativo que será responsável pelo desenvolvimento da inflamação das vias aéreas. A progressão do stress oxidativo e da inflamação, associarse- ão posteriormente a lesão local (pulmonar) e sistémica. Neste trabalho pretendeu-se avaliar os efeitos da exposição individual a diversos poluentes, do ar exterior e interior, sobre as vias aéreas, recorrendo a parâmetros funcionais, inflamatórios e do estudo do stress oxidativo. Neste sentido, desenvolveu-se um estudo de painel na cidade de Viseu, em que foram acompanhadas durante 18 meses, 51 crianças com história de sibilância, identificadas pelo questionário do estudo ISAAC. As crianças foram avaliadas em quatro Visitas (quatro medidas repetidas), através de diversos exames, que incluíram execução de espirometria com broncodilatação, medição ambulatória do PEF, medição de FENO e estudo do pH no condensado brônquico do ar exalado. O estudo dos 8-isoprostanos no condensado brônquico foi efectuado somente em duas Visitas, e o do doseamento de malonaldeído urinário somente na última Visita. Para além da avaliação do grau de infestação de ácaros do pó do colchão, para cada criança foi calculado o valor de exposição individual a PM10, O3, NO2, benzeno, tolueno, xileno, etilbenzeno e formaldeído, através de uma complexa metodologia que envolveu técnicas de modelação associadas a medições directas do ar interior (na casa e escola da criança) e do ar exterior. Para a análise de dados foram utilizadas equações de estimação generalizadas com uma matriz de correlação de trabalho uniforme, com excepção do estudo das associações entre poluentes, 8-isoprostanos e malonaldeído. Verificou-se na análise multivariável a existência de uma associação entre o agravamento dos parâmetros espirométricos e a exposição aumentada a PM10, NO2, benzeno, tolueno e etilbenzeno. Foram também encontradas associações entre diminuição do pH do EBC e exposição crescente a PM10, NO2, benzeno e etilbenzeno e associações entre valores aumentados de FENO e exposição a etilbenzeno e tolueno. O benzeno, o tolueno e o etilbenzeno foram associados com maior recurso a broncodilatador nos 6 meses anteriores à Visita e o tolueno com deslocações ao serviço de urgência. Os resultados dos modelos de regressão que incluíram o efeito do poluente ajustado para o grau de infestação de ácaros do pó foram, de uma forma geral, idênticos ao da análise multivariável anterior, com excepção das associações para com o FENO. Nos modelos de exposição com dois poluentes, com o FEV1 como variável resposta, somente o benzeno persistiu com significado estatístico. No modelo com dois poluentes tendo o pH do EBC como variável resposta, somente persistiram as PM10. Os 8-isoprostanos correlacionaram-se com alguns COVs, designadamente etilbenzeno, xileno, tolueno e benzeno. Os valores de malonaldeído urinário não se correlacionaram com os valores de poluentes. Verificou-se no entanto que de uma forma geral, e em particular mais uma vez para os COVs, as crianças mais expostas a poluentes, apresentaram valores superiores de malonaldeído na urina. Verificou-se que os poluentes do ar em geral, e os COVs em particular, se associaram com uma deterioração das vias aéreas. A exposição crescente a poluentes associou-se não só com obstrução brônquica, mas também com FENO aumentado e maior acidez das vias aéreas. A exposição crescente a COVs correlacionou-se com um maior stress oxidativo das vias aéreas (medido pelos 8-isoprostanos). As crianças com exposição superior a COVs apresentaram maiores valores de malonaldeído urinário. Este trabalho sugere uma associação entre exposição a poluentes, inflamação das vias aéreas e stress oxidativo. Vem reforçar o interesse dos poluentes do ar, nomeadamente os associados a ambientes interiores, frequentemente esquecidos e que poderão ser explicativos do agravamento duma criança com sibilância.-----------ABSTRACT: Asthma is a chronic respiratory disease that could be influenced by environmental factors, as allergens and air pollutants. The air breathed contains a diversity of air pollutants, both from natural or anthropogenic sources. Atmospheric pollution, traditionally considered an environmental problem, is nowadays looked as an important public health problem. Indoor air pollutants are also related with respiratory diseases, not only in terms of occupational exposures but also in domestic activities. Particulate matter (such as PM10), O3, NO2 and volatile organic compounds (VOCs) are the main air pollutants. The main source for PM10, O3, NO2 exposure is traffic exhaust while for VOCs (such as benzene, toluene, xylene, ethylbenzene and phormaldehyde) the main sources for exposure are located in indoor environments. The pathophysiologic mechanisms underlying the aggression of air pollutants are not properly understood. It is thought that after inhalation, air pollutants could induce oxidative stress, which would be responsible for airways inflammation. The progression of oxidative stress and airways inflammation, would contribute for the local and systemic effects of the air pollutants. The present study aimed to evaluate the effects of individual exposure to various pollutants over the airways, through lung function tests, inflammatory and oxidative stress biomarkers. In this sense, we developed a panel study in the city of Viseu, that included 51 children with a history of wheezing. Those children that were identified by the ISAAC questionnaire, were followed for 18 months. Children were assessed four times (four repeated measures) through the following tests: spirometry with bronchodilation test, PEF study, FENO evaluation and exhaled breath condensate pH measurement. 8-isoprostane in the exhaled breath condensate were also measured but only in two visits. Urinary malonaldehyde measurement was performed only in the last visit. Besides the assessment of the house dust mite infestation, we calculated for each child the value of individual exposure to a wide range of pollutants: PM10, O3, NO2, benzene, toluene, xylene, ethyl benzene and formaldehyde. This strategy used a complex methodology that included air pollution modelling techniques and direct measurements indoors (homes and schools) and outdoors. Generalized estimating equations with an exchangeable working correlation matrix were used for the analysis of the data. Exceptions were for the study of associations between air pollutants, malonaldehyde and 8-isoprostanes. In the multivariate analysis we found an association between worsening of spirometric outcomes and increased exposure to PM10, NO2, benzene, toluene and ethylbenzene. In the multivariate analysis we found also negative associations between EBC pH and exposure to PM10, NO2, benzene, ethylbenzene and positive associations between FENO and exposure to ethylbenzene and toluene. Benzene, toluene and ethylbenzene were associated with increased use of bronchodilator in the 6 months prior to the visit and toluene with emergency department visits. Results of the regression models that included also the effect of the pollutant adjusted for the degree of infestation to house dust mites, were identical to the previous models. Exceptions were for FENO associations. In the two-pollutant models, with the FEV1 as dependent variable, only benzene persisted with statistical significance. In the two pollutant model with pH of EBC as dependent variable, only PM10 persisted. 8-isoprostanes were well correlated with some VOCs, namely with ethylbenzene, xylene, toluene and benzene. Urinary malonaldehyde did not present any correlation with air pollutants exposure. However, those children more exposed to air pollutants (namely to VOCs), presented higher values of malonaldehyde. It was found that air pollutants in general, and namely VOCs, were associated with deterioration of the airways. The increased exposure to air pollutants was associated not only with airways obstruction, but also with increased FENO and higher acidity of the airways. The increased exposure to VOCs was correlated with increased airways oxidative stress (measured by 8-isoprostane). Children with higher levels of exposure to VOCs had higher values of urinary malonaldehyde. This study suggests a relation between air pollution, airways inflammation and oxidative stress. It suggests also that attention should be dedicated to air quality as air pollutants could cause airways deterioration.

Asthma and cystic fibrosis (CF) are examples of childhood pulmonary illnesses with significant psychological impacts. These disorders have in common an induced difficulty with a primal drive, the drive to breathe. Acute impairment with the drive to breathe is highly anxiety provoking, and chronic impairment is life-altering. Pulmonary illnesses like asthma and CF can have direct impacts on brain functioning through systemic hypoxia (low blood oxygen [O2] level) or hypercapnia (high blood carbon dioxide [CO2] level) due to poor respiratory gas exchange. With chronic respiratory problems in children, hypoxia is the more clinically pertinent issue in that hypoxia seems to produce developmental impacts. Studies that have looked at the outcomes of pulmonary hypoxia have found associations with adverse effects even from oxygen levels that were just slightly below the normal range (Bass et al. 2004). A drop of only 4% O2 saturation from baseline is associated with attentiondeficit hyperactivity (ADHD)-like symptoms. Persistent oxygen saturation levels that are even lower than this have been associated with decreased IQ and delays in motor development (Bass et al. 2004). Negative neurobehavioral effects of the hypercapnia side of impaired respiratory status are less well documented. In fact, hypercapnia, besides triggering an increase in cerebral blood flow and driving a sense of air hunger particularly in people with trait anxiety, seems to have no lasting neurocognitive impact (Wan et al. 2008). Research on the use of intentional ‘‘permissive’’ hypercapnia when using mechanical ventilation assistance (allowing higher blood carbon dioxide levels to minimize barotrauma from the assist device) has shown no common neurocognitive complications from this strategy. There are even suggestions of some improved neurocognitive outcomes for neonates managed in this manner (Miller and Carlo 2007). These results are tempered by a higher reported frequency of intraventricular hemorrhage in hypercapnic very-low-birth-weight infants, and there is at least one case report of subarachnoid hemorrhage in a child ventilated with permissive hypercapnia for an asthma episode (Edmunds and Harrison 2003; Kaiser et al. 2006). The severe hypercapnia of complete respiratory failure goes hand in hand with hypoxia, so the effects of each in that potentially fatal scenario are difficult to separate.

The dystrophinopathies, including Duchenne and Becker muscular dystrophies, are X-linked, developmental neuromuscular disorders. The dystrophinopathies are so named because of their effect on the production of the protein dystrophin, and are known primarily as muscle diseases in males that present with progressive weakness that is eventually fatal. To date, there is no cure for the dystrophinopathies, and treatment focuses on slowing the disease progression. Medical management is complex and multifaceted. It includes care for neuromuscular, orthopedic, rehabilitative, nutritional, respiratory, cardiac, gastrointestinal, psychological, and palliative aspects of the disease. The devastating physical toll of the diseases is well known. In contrast, the associated cognitive and behavioral abnormalities are less familiar to most clinicians. Nonetheless, the cognitive and behavioral attributes of the dystrophinopathies impact on the affected individual’s and his family’s functioning in far-ranging ways. More importantly, identifying any associated cognitive and behavioral abnormalities early, and providing appropriate interventions, can contribute substantially to an affected individual’s quality of life. The dystrophinopathies are the most common neuromuscular diseases of childhood, affect all ethnic groups, and have an estimated overall prevalence of 63 per million (Emery 1991; Emery 1992). Positive diagnosis for the Duchenne muscular dystrophy (DMD, the more severe form) is based on the following criteria: (a) male; (b) onset of weakness before age 5; (c) initial proximal muscle weakness; (d) muscle hypertrophy, most prominent in the calves; (e) elevated creatine kinase activity of at least 10 times above the upper limit of normal; and either (f) positive histopathological confirmation by muscle biopsy or (g) molecular characterization of a mutation within the gene for dystrophin. Approximately 1 in 3,500 live male births meet these criteria (Emery 1992). The diagnosis of Becker muscular dystrophy (BMD, the less severe form) is clinically determined by those children who remain walking at age 12. Individuals with BMD have a slower course and considerably longer lifespan than those with DMD. Natural history studies have been conducted to characterize the course of the disease. The Clinical Investigation of Duchenne Dystrophy group (CIDD) followed more than 200 individuals affected with DMD for more than 10 years (Brooke et al. 1983; Hyser et al. 1987; Mendell et al. 1987).

Children’s involuntary exposure to tobacco smoke is a common and substantial health problem that has been receiving increasing attention from the pediatric, public health and research communities. According to the 2006 Surgeon General’s Report, there is no safe level of tobacco smoke exposure, yet at least 30% of children in the United States live in households with at least one adult smoker, and nearly 60% have evidence of recent exposure (Machlin, Hill, and Liang 2006). Tobacco smoke exposure has been causally linked to numerous adverse health outcomes and is currently a leading preventable cause of both low birth weight and sudden infant death syndrome, and a major contributor to lower respiratory infections, otitis media, and increased asthma severity (American Academy of Pediatrics, Committee on Environmental Health 1997; Cook and Strachan 1999; DiFranza et al. 2004). Recently, associations between tobacco smoke exposure and other childhood health problems, such as increased rates of dental caries (Aligne et al. 2003; Iida et al. 2007), food insecurity (Cutler et al. in press), and the metabolic syndrome (Weitzman et al. 2005) have been identified. As discussed in this chapter, a growing human and animal literature, which expands upon a more than 25-year-old body of work, also indicates that involuntary exposure to tobacco smoke during the pre- and/or postnatal periods is associated with adverse cognitive and behavioral outcomes in children. Tobacco smoke exposure has been associated with decrements in IQ, problems with learning and memory, difficulty with auditory processing, neonatal hyperactivity, attention-deficit hyperactivity disorder (ADHD), internalizing and externalizing behavioral problems, and conduct disorder. Animal models have provided evidence that tobacco is toxic to the developing brain, and there are plausible biologic pathways that appear to mediate these effects. Exciting new studies have begun to identify specific genes that play a role in the relationship between tobacco smoke exposure and adverse cognitive and behavioral outcomes in children. The term “secondhand smoke” (SHS), also referred to as “environmental tobacco smoke” (ETS), refers to the smoke that is exhaled from a smoker’s lungs, as well as the smoke from the smoldering end of a cigarette.

This chapter discusses disease entities that are vaccine preventable. Diseases not likely to be seen by physicians because of near eradication include diphtheria, tetanus, polio, and rabies. However, suspected rabies exposure is common, and initiating post-exposure prophylaxis is essential to preventing rabies. Clearly, other diseases that vaccines have reduced but not eliminated, such as pertussis, hepatitis A, hepatitis B, rotavirus, varicella/zoster, pneumococcal disease, meningococcal disease, influenza, respiratory syncytial virus, and tuberculosis, will be encountered. Haemophilus influenzae type b disease may also rarely be seen. There is great potential for physicians to never see a case of measles, mumps, and rubella, but because clusters of parents have chosen to not vaccinate their children, sporadic outbreaks will continue to occur.

Medical advances have increased the number of children who have survived and are now living with chronic medical conditions (Irwin & Elam, 2011; Singer 2012). Diseases and conditions that as recently as a decade ago were considered fatal or completely debilitating are now increasingly treated as chronic conditions. Among these are several types of cancer, HIV/AIDS, respiratory illnesses, and severe epilepsy. Increasingly, students with severe chronic conditions are educated in public schools instead of home or hospital settings. The purpose of this chapter is to present case studies of real children and families that will allow educators and others a personal glimpse into the lives of children with chronic illness and their families. Suggestions for analyzing the case studies are provided that will help teachers, administrators, and teacher educators to examine the complex issues surrounding the educational needs of children with chronic illnesses.

Medical advances have increased the number of children who have survived and are now living with chronic medical conditions (Irwin & Elam, 2011; Singer 2012). Diseases and conditions that as recently as a decade ago were considered fatal or completely debilitating are now increasingly treated as chronic conditions. Among these are several types of cancer, HIV/AIDS, respiratory illnesses, and severe epilepsy. Increasingly, students with severe chronic conditions are educated in public schools instead of home or hospital settings. The purpose of this chapter is to present case studies of real children and families that will allow educators and others a personal glimpse into the lives of children with chronic illness and their families. Suggestions for analyzing the case studies are provided that will help teachers, administrators, and teacher educators to examine the complex issues surrounding the educational needs of children with chronic illnesses.

Williams syndrome (WS) is a rare neurodevelopmental genetic disorder stemming from a hemizygous deletion of about 20–28 genes from chromosome band 7.11.23q (Ewart et al. 1993) including the gene for elastin. Early estimates of incidence proposed 1 in 20,000 live births (Greenberg 1989), but current estimates are 1 in 7,500 (Stromme, Bjornstad, and Ramstad 2002). Williams syndrome was first recognized by a pediatrician, Dr. JCP Williams in 1961, who described a group of children with “elfin facies” and supravalvular aortic stenosis (Williams, Barratt-Boyes, and Lowe 1961). Shortly thereafter, Dr. Alois Beuren (1962) identified another group of children with similar features, including an intolerance to calcium. As such, this syndrome has also been called Williams-Beuren syndrome or infantile hypercalcemia. The early descriptions of children and adolescents with WS noted a set of characteristic facial and behavioral features: “an unusual command of language combined with an unexpectedly polite, gentle and open manner” (von Armin and Engel 1964). Twenty years later, WS caught the interest of cognitive scientists when it was seen as a possible case of spared language in the face of impaired cognition (Bellugi, Sabo, and Vaid 1988; Bellugi, Wang, and Jernigan 1994). The early studies noted that, in spite of IQs ranging from 40–70, with an average full-scale IQ of 55 (Bellugi et al. 2001) and significantly impaired visuospatial cognition, adolescents with WS had excellent language skills (Bellugi, Lai, and Wang 1997; Reilly, Klima, and Bellugi 1990). In the ensuing 20 years, recognizing WS as a unique opportunity to investigate genetic influences on brain development and cognitive and social processes, investigators have approached the puzzles of WS from multiple perspectives. In this chapter, we provide an overview of WS, focusing on its cognitive and neuropsychological profile from a developmental perspective and where known, the possible neural and genetic underpinnings of the WS profile. We close with a brief discussion of therapeutic interventions for WS. The WS deletion invariably includes the gene for elastin (ELN), which codes for an elastic protein in connective tissue that is abundant in large blood vessels such as the aorta (Lowery et al. 1995).

Introduction: Many studies prove the effect of occupational noise to cardiovascular system. Respiratory diseases also lead to cardiovascular pathology risk increase. The study of occupational noise effects to cardiovascular pathology frequency in patients with occupational diseases of respiratory system is relevant. The goal: to study cardiovascular pathology prevalence and age in patients with occupational diseases of respiratory system who have come into contact with silica-containing dust and noise. Research methods: 178 case histories of patients with occupational pathology of respiratory system were analyzed. 2 groups were identified: persons worked with silica-containing dust (group 1) and worked with silica-containing dust and occupational noise (group 2). Cardiovascular pathology frequency in each group of patients were estimated according to discharge epicrisis data. Results: The incidence of arterial hypertension (AH) in the 1st group was 60%, in the 2nd group of - 78.3%. The average age of onset of AH in group 1 was 57.5 ± 6.9 years, in group 2 - 51.8 ± 5.5 years. Conclusions: AH prevalence of working in harmful occupational conditions exceeds the average frequency of AH in general population. AH were more common under combined exposure of silica-containing dust and occupational noise and develops in this category of people at younger age.

Context: The understanding of neuromuscular manifestations secondary to infection by SARS-CoV-2 is scarce. Peripheral neuropathies are a heterogeneous group of diseases affecting the peripheral nervous system, with a variable motor, sensitive and autonomic involvement. There are recent descriptions of atypical patterns of neuropathies after COVID-19. In this study we aim to report a brachial plexopathy secondary to COVID-19 with its clinical and electrophysiological characterization. We performed a cross-sectional, observational, descriptive, case report type, using medical record review. Case report: A 42 year-old female was hospitalized for 2 months due to severe respiratory syndrome due to COVID-19. She remained in the ICU for 20 days. During her stay in the ward she complained of weakness and pain in his right upper limb. Physical examination revealed weakness in the right shoulder abduction and elbow flexion. Nerve conduction studies demonstrated involvement of the upper trunk of the right brachial plexus. There was no report of trauma. Her BMI was 50 kg/m2. Conclusions: Recent studies bring atypical descriptions of focal neuropathies, multiple mononeuropathies and plexopathies, opening a new field of study in addition to the description of neuromuscular weakness following ICU stay after COVID-19. From an electrophysiological point of view, there is a recent interest in better characterization of patients with axonal neuropathies suggesting a possible vasculitic mechanism of neuronal damage after COVID-19. Further investigations are necessary to improve the characterization of this particular group, helping its diagnosis and early treatment to reduce complications and disabilities.

Examples of two-phase flows in the human body include particle-hemodynamics in branching arteries and toxic/therapeutic air-particle mixtures in the respiratory system. In this review, the fundamentals of modeling dilute particle suspensions are presented with computer applications to the geometric design of bypass graft-ends and the prediction of local aerosol depositions in the human upper airways. For the latter project, aerosols in the nano- and micro-size ranges, solid and liquid particles as well as evaporating droplets are considered. Specifically, the particle-hemodynamics project deals with the prediction of aggravating two-phase flow events leading to arterial diseases, such as atherosclerosis and hyperplasia, and subsequently the design of bypass grafts mitigating post-operative complications. The lung-aerosol project requires accurate and realistic computations of laminar-to-turbulent airflows and toxic (or therapeutic) particle depositions in the human airways for two applications: dosimetry-and-health-effect assessments of toxic particles and optimal drug aerosol delivery by inhalation. Two-phase flow results from different case studies are presented.

Objectives. Diagnostic errors are a known patient safety concern across all clinical settings, including the emergency department (ED). We conducted a systematic review to determine the most frequent diseases and clinical presentations associated with diagnostic errors (and resulting harms) in the ED, measure error and harm frequency, as well as assess causal factors. Methods. We searched PubMed®, Cumulative Index to Nursing and Allied Health Literature (CINAHL®), and Embase® from January 2000 through September 2021. We included research studies and targeted grey literature reporting diagnostic errors or misdiagnosis-related harms in EDs in the United States or other developed countries with ED care deemed comparable by a technical expert panel. We applied standard definitions for diagnostic errors, misdiagnosis-related harms (adverse events), and serious harms (permanent disability or death). Preventability was determined by original study authors or differences in harms across groups. Two reviewers independently screened search results for eligibility; serially extracted data regarding common diseases, error/harm rates, and causes/risk factors; and independently assessed risk of bias of included studies. We synthesized results for each question and extrapolated U.S. estimates. We present 95 percent confidence intervals (CIs) or plausible range (PR) bounds, as appropriate. Results. We identified 19,127 citations and included 279 studies. The top 15 clinical conditions associated with serious misdiagnosis-related harms (accounting for 68% [95% CI 66 to 71] of serious harms) were (1) stroke, (2) myocardial infarction, (3) aortic aneurysm and dissection, (4) spinal cord compression and injury, (5) venous thromboembolism, (6/7 – tie) meningitis and encephalitis, (6/7 – tie) sepsis, (8) lung cancer, (9) traumatic brain injury and traumatic intracranial hemorrhage, (10) arterial thromboembolism, (11) spinal and intracranial abscess, (12) cardiac arrhythmia, (13) pneumonia, (14) gastrointestinal perforation and rupture, and (15) intestinal obstruction. Average disease-specific error rates ranged from 1.5 percent (myocardial infarction) to 56 percent (spinal abscess), with additional variation by clinical presentation (e.g., missed stroke average 17%, but 4% for weakness and 40% for dizziness/vertigo). There was also wide, superimposed variation by hospital (e.g., missed myocardial infarction 0% to 29% across hospitals within a single study). An estimated 5.7 percent (95% CI 4.4 to 7.1) of all ED visits had at least one diagnostic error. Estimated preventable adverse event rates were as follows: any harm severity (2.0%, 95% CI 1.0 to 3.6), any serious harms (0.3%, PR 0.1 to 0.7), and deaths (0.2%, PR 0.1 to 0.4). While most disease-specific error rates derived from mainly U.S.-based studies, overall error and harm rates were derived from three prospective studies conducted outside the United States (in Canada, Spain, and Switzerland, with combined n=1,758). If overall rates are generalizable to all U.S. ED visits (130 million, 95% CI 116 to 144), this would translate to 7.4 million (PR 5.1 to 10.2) ED diagnostic errors annually; 2.6 million (PR 1.1 to 5.2) diagnostic adverse events with preventable harms; and 371,000 (PR 142,000 to 909,000) serious misdiagnosis-related harms, including more than 100,000 permanent, high-severity disabilities and 250,000 deaths. Although errors were often multifactorial, 89 percent (95% CI 88 to 90) of diagnostic error malpractice claims involved failures of clinical decision-making or judgment, regardless of the underlying disease present. Key process failures were errors in diagnostic assessment, test ordering, and test interpretation. Most often these were attributed to inadequate knowledge, skills, or reasoning, particularly in “atypical” or otherwise subtle case presentations. Limitations included use of malpractice claims and incident reports for distribution of diseases leading to serious harms, reliance on a small number of non-U.S. studies for overall (disease-agnostic) diagnostic error and harm rates, and methodologic variability across studies in measuring disease-specific rates, determining preventability, and assessing causal factors. Conclusions. Although estimated ED error rates are low (and comparable to those found in other clinical settings), the number of patients potentially impacted is large. Not all diagnostic errors or harms are preventable, but wide variability in diagnostic error rates across diseases, symptoms, and hospitals suggests improvement is possible. With 130 million U.S. ED visits, estimated rates for diagnostic error (5.7%), misdiagnosis-related harms (2.0%), and serious misdiagnosis-related harms (0.3%) could translate to more than 7 million errors, 2.5 million harms, and 350,000 patients suffering potentially preventable permanent disability or death. Over two-thirds of serious harms are attributable to just 15 diseases and linked to cognitive errors, particularly in cases with “atypical” manifestations. Scalable solutions to enhance bedside diagnostic processes are needed, and these should target the most commonly misdiagnosed clinical presentations of key diseases causing serious harms. New studies should confirm overall rates are representative of current U.S.-based ED practice and focus on identified evidence gaps (errors among common diseases with lower-severity harms, pediatric ED errors and harms, dynamic systems factors such as overcrowding, and false positives). Policy changes to consider based on this review include: (1) standardizing measurement and research results reporting to maximize comparability of measures of diagnostic error and misdiagnosis-related harms; (2) creating a National Diagnostic Performance Dashboard to track performance; and (3) using multiple policy levers (e.g., research funding, public accountability, payment reforms) to facilitate the rapid development and deployment of solutions to address this critically important patient safety concern.