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1
Sallevelt, Suzanne C. E. H., Alexander P. A. Stegmann, Bart de Koning, Crool Velter, Anja Steyls, Melanie van Esch, Phillis Lakeman, et al. "Diagnostic exome-based preconception carrier testing in consanguineous couples: results from the first 100 couples in clinical practice." Genetics in Medicine 23, no. 6 (March 19, 2021): 1125–36. http://dx.doi.org/10.1038/s41436-021-01116-x.
Повний текст джерелаАнотація:
Abstract Purpose Consanguineous couples are at increased risk of being heterozygous for the same autosomal recessive (AR) disorder(s), with a 25% risk of affected offspring as a consequence. Until recently, comprehensive preconception carrier testing (PCT) for AR disorders was unavailable in routine diagnostics. Here we developed and implemented such a test in routine clinical care. Methods We performed exome sequencing (ES) for 100 consanguineous couples. For each couple, rare variants that could give rise to biallelic variants in offspring were selected. These variants were subsequently filtered against a gene panel consisting of ~2,000 genes associated with known AR disorders (OMIM-based). Remaining variants were classified according to American College of Medical Genetics and Genomics/Association for Molecular Pathology (ACMG/AMP) guidelines, after which only likely pathogenic and pathogenic (class IV/V) variants, present in both partners, were reported. Results In 28 of 100 tested consanguineous couples (28%), likely pathogenic and pathogenic variants not previously known in the couple or their family were reported conferring 25% risk of affected offspring. Conclusion ES-based PCT provides a powerful diagnostic tool to identify AR disease carrier status in consanguineous couples. Outcomes provided significant reproductive choices for a higher proportion of these couples than previous tests.
2
Zalewski, Bartosz. "Phenomena related to autobiographical memory during initial consultations in couple psychotherapy." Przegląd Psychologiczny 65, no. 3 (December 29, 2022): 129–44. http://dx.doi.org/10.31648/przegldpsychologiczny.8805.
Повний текст джерелаАнотація:
Objective
The aim of this article is to seek the possibility of applying the conclusions of current research on the functioning of autobiographical memory to diagnostic practice in couple psychotherapy. The nature of memory processes determines the type of data that diagnosticians obtain from couples during consultation. Another aim is to support the development of methodological competencies of psychologists-diagnosticians working with couples, by providing knowledge about the operation of memory mechanisms during initial consultation meetings.
Theses
Research on autobiographical memory shows that the content of memories significantly depends on the purpose, context, and audience for which it is recalled. A thesis explored in this article is that in the specific context of the consultations for couple psychotherapy, memories are recalled by partners under the influence of strong emotions, and in order to talk about the couple’s problems partners often protect each person against negative evaluations by therapists. At the same time partners try to introduce and maintain elements of relational identity of each partner.
Conclusions
Autobiographical memory is a valuable source of information about the couple’s past. Knowledge about memory mechanisms allows therapists to adequately assess the quality of collected data and then formulate appropriate diagnostic hypotheses. At the same time, consulting sessions are specific environments for recalling memories. For proper assessment, it is necessary to analyze both the content of memories and the way they were introduced into consultation. Collecting important information about the mental life of each partner is also possible thanks to a good diagnostic alliance.
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SZYMAŃSKI, Grzegorz, and Wojciech MISZTAL. "Analysis of measurement points sensitivity of vibration signals on the stand of jet engine." Combustion Engines 171, no. 4 (November 1, 2017): 279–82. http://dx.doi.org/10.19206/ce-2017-448.
Повний текст джерелаАнотація:
The diagnostic testing of internal combustion engine can be made by using working processes and methods which take advantage of leftover processes. Working processes give information about general condition of internal combustion engine. Leftover processes give information about condition of particular subassemblies and kinematic couples; hence they are used as autonomous processes or as processes supporting other diagnostic methods. Methods based on analysis of vibrations and noise changes to determine technical condition of object are named as vibroacoustic diagnostics. In papers about vibroacoustic diagnostics of engine, problems connected with difficulty to select test point and to define diagnostic parameters containing essential information about engine’s condition, are most often omitted. Selection of engine’s working parameters and conditions of taking measurements or recording vibration signal are usually based on references, researcher’s experience or intuition. General assumptions about taking measurements of signal closest to its source are most often used. This paper presents a new approach to vibroacoustic diagnostics of jet engine. Selection of measurement points of vibration signals on the basis of tests stand results was suggested and perform a sensitivity analysis of measurement points on the engine support.
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SZYMAŃSKI, Grzegorz, and Franciszek TOMASZEWSKI. "Experimental method for the selection of points of measurement diagnostic vibration signals on internal combustion engine." Combustion Engines 150, no. 3 (September 1, 2012): 72–79. http://dx.doi.org/10.19206/ce-117035.
Повний текст джерелаАнотація:
The diagnostic testing of internal combustion engine can be made by using working processes and methods which take advantage of leftover processes. Working processes give information about general condition of internal combustion engine. Leftover processes give information about condition of particular subassemblies and kinematic couples; hence they are used as autonomous processes or as processes supporting other diagnostic methods. Methods based on analysis of vibrations and noise changes to determine technical condition of object are named as vibroacoustic diagnostics. In papers about vibroacoustic diagnostics of engine, problems connected with difficulty to select test point and to define diagnostic parameters containing essential information about engine’s condition, are most often omitted. Selection of engine’s working parameters and conditions of taking measurements or recording vibration signal are usually based on references, researcher’s experience or intuition. General assumptions about taking measurements of signal closest to its source are most often used. This paper presents a new approach to vibroacoustic diagnostics of internal combustion engine. Selection of test points of vibration on the basis of impact tests results was suggested and performed a sensitivity analysis of measurement points on the cylinder head, the force impulse.
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Mahmud, Nusrat. "Non-ART Treatment of Unexplained Infertility - Waiting, Tubal Flushing, Ovulation Assisting Agents?" Fertility & Reproduction 05, no. 04 (December 2023): 283. http://dx.doi.org/10.1142/s2661318223740973.
Повний текст джерелаАнотація:
Unexplained infertility is a common diagnosis affecting 20-25% of couples seeking infertility care. Till now, treatment of unexplained infertility remains empirical as no treatable cause of is identified. Interestingly the word “Unexplained Infertility” is used where physicians failed to come into conclusion to a diagnosis or failed to identify a detectable cause for couple’s infertility. There are many reasons why the diagnosis of infertility with detectable causes are difficult. It is not taken for granted that even in a well-documented diagnosis, that cause could be the sole reason of infertility. There is high observer to observer variations in the interpretation of diagnostic findings, sometimes diagnosis of endometriosis is missed and that couple is labelled as unexplained infertility. Unexplained infertility is inevitably diagnosed by exclusion after routine standard investigations. Unfortunately, a real standardization of the diagnostic workup is still missing. Management of unexplained infertility is basically empirical as far as the efficacies, safety, cost, and risks of each treatment option regards. The main problem of treating this couple is disagreement of physicians on the management plan. Failure in implementation of standard practice for treatment leads to over treatment in most of the cases. This practice is mainly accompanied with misdiagnosis of eligible cases of expected management. Existing guideline for Unexplained Infertility were released from Canadian Fertility and Andrology Society in 2019 and from ASRM in 2022. Based on these comprehensive guidelines, ESHRE special interest group (SIG) –Reproductive Endocrinology initiated the development of an ESHRE guideline focusing on the diagnosis and therapeutic management of couples with unexplained infertility. My presentation will be based on the non-ART management of unexplained infertility both expectant and active.
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Wyrwoll, Margot J., Sabine Rudnik-Schöneborn, and Frank Tüttelmann. "Genetic counseling and diagnostic guidelines for couples with infertility and/or recurrent miscarriage." Medizinische Genetik 33, no. 1 (April 1, 2021): 3–12. http://dx.doi.org/10.1515/medgen-2021-2051.
Повний текст джерелаАнотація:
Abstract Around 10–15 % of all couples are infertile, rendering infertility a widespread disease. Male and female causes contribute equally to infertility, and, depending on the definition, roughly 1 % to 5 % of all couples experience recurrent miscarriages. In German-speaking countries, recommendations for infertile couples and couples with recurrent miscarriages are published as consensus-based (S2k) Guidelines by the “Arbeitsgemeinschaft der Wissenschaftlichen Medizinischen Fachgesellschaften” (AWMF). This article summarizes the current recommendations with regard to genetic counseling and diagnostics. Prior to genetic counseling, the infertile couple must undergo a gynecological/andrological examination, which includes anamnesis, hormonal profiling, physical examination and genital ultrasound. Women should be examined for the presence of hyperandrogenemia. Men must further undergo a semen analysis. Based on the overall results, hyper- or hypogonadotropic hypogonadism can be diagnosed in both sexes. Female genetic diagnostics for infertility comprise karyotyping, analysis of the FMR1 premutation and a gene panel including genes associated with congenital hypogonadotropic hypogonadism (CHH) or congenital adrenal hyperplasia. Male genetic diagnostics for infertility comprise karyotyping, screening for AZF microdeletions, CFTR analysis and a gene panel including genes associated with CHH. Also, gene panels are increasingly being used to causally clarify specific phenotypes such as defective sperm morphology/motility or azoospermia. As infertile couples have an increased risk for chromosomal aberrations, a chromosomal analysis should also be offered to both partners prior to undergoing assisted reproductive technology. In couples with recurrent miscarriages, karyotyping is recommended to detect balanced structural chromosomal aberrations.
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Désir, J., C. Meunier, J. M. Billard, A. Marichal, S. Rombout, and B. Grisart. "Nouvelles techniques génétiques de dépistage et diagnostic anténatals : quels enjeux ?" Périnatalité 12, no. 2 (June 2020): 63–69. http://dx.doi.org/10.3166/rmp-2020-0085.
Повний текст джерелаАнотація:
Les nouvelles techniques génomiques révolutionnent le dépistage et le diagnostic anténatals, en permettant l’accès à des diagnostics d’affections foetales et/ou parentales dont la pénétrance n’est pas toujours complète. Ces techniques soulèvent de nombreuses questions, dans un contexte sensible, éthiquement différent du suivi postnatal. La création de groupes de réflexion multidisciplinaires nationaux et internationaux est fondamentale pour réfléchir aux diagnostics ou facteurs de susceptibilité importants à rapporter au couple en cours de grossesse.
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Vazirnia, Fatemeh, Javad Karimi, Kourosh Goodarzi, and Masoud Sadeghi. "Effects of Integrative Behavioral Couple Therapy on Infertility Self-efficacy, Dyadic Adjustment, and Sexual Satisfaction in Infertile Couples." Journal of Client-Centered Nursing Care 7, no. 1 (February 1, 2121): 43–54. http://dx.doi.org/10.32598/jccnc.7.1.354.1.
Повний текст джерелаАнотація:
Background: Given the rising rate of infertility, the prevalence of mental health disorders in infertile couples is undeniable. The present study aimed to investigate the effects of Integrative Behavioral Couple Therapy (IBCT) on infertility self-efficacy, dyadic adjustment, and sexual satisfaction in infertile couples. Methods: The present single-case experimental study used a multiple-baseline design. The statistical population of the study included all infertile couples referring to infertility centers in Ahvaz City, Iran, in 2019. The research instruments included the Infertility Self-Efficacy Scale (ISE), the Dyadic Adjustment Scale (DAS), and the Sexual Satisfaction Questionnaire (SSQ). Following a diagnostic interview, 3 couples were selected using the convenience sampling technique. Integrative behavioral couple therapy was conducted in twelve 120-minute sessions for the intervention group. The second couple entered the study in the second session of the first couple; the third couple enrolled the treatment plan in the third session of the first couple and the second session of the second couple. All questionnaires were completed in the first, third, sixth, eighth, and tenth sessions; the study participants were followed up and re-assessed two months later. The collected data were analyzed in SPSS using chart analysis, reliable change index, and significance statistics. Results: The provided IBCT increased infertility self-efficacy (39.04%), dyadic adjustment (25.91%), and sexual satisfaction (55.01%) in infertile couples. Besides, the improvement lasted throughout the follow-up which indicated the effectiveness of IBCT on infertility self-efficiency, dyadic adjustment, and sexual satisfaction in the study subjects. Conclusion: IBCT can be effective in improving personal and marital variables in infertile couples with infertility problems in addition to their marital problems.
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LIU, WEI-ZHONG, and DAO-JUN LIU. "STATEFINDER DIAGNOSTIC FOR QUINTESSENCE WITH OR WITHOUT THERMAL INTERACTION." International Journal of Modern Physics D 18, no. 01 (January 2009): 43–52. http://dx.doi.org/10.1142/s0218271809014261.
Повний текст джерелаАнотація:
The cosmological dynamics of a minimally coupled scalar field that couples to the background matter with thermal interactions is investigated using statefinder diagnostics. The time evolution of the statefinder pairs {r, s} and {r, q} are obtained under the circumstance that different values of model parameters are chosen. We show that the thermal coupling term does not affect the location of the late-time attractor, but exerts an influence on the evolution of the statefinder parameters. The most notable feature of the r–s plane for the thermal coupling model, which is distinguished from the other dark energy models, is that some part of the curve with thermal coupling can form a closed loop in the second quadrant (r > 1, s < 0).
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Isari, Saeed, Masoud Shahbazi, and Maryam Gholamzadeh Jofreh. "The effectiveness of couple therapy based on acceptance and commitment on love schemas and emotional schemas in couples with extramarital relationships." Journal of Assessment and Research in Applied Counseling 5, no. 2 (2023): 24–33. http://dx.doi.org/10.61838/kman.jarac.5.2.4.
Повний текст джерелаАнотація:
Objective: This study aimed to determine the effectiveness of couple therapy based on acceptance and commitment on love schemas and emotional schemas in couples with extramarital relationships with a two-month follow-up period. Methods and Materials: This research used a single-case quasi-experimental design of multiple baseline types. The statistical population of this research included all couples with experience in extramarital relations who were referred to the family courts and prevention unit of the Dezful city welfare department in 2021-22. After the diagnostic interview and specifying the couples who met the entry criteria, four couples (8 persons) were selected based on purposive sampling. The protocol of the couples therapy method was implemented in the form of three baseline stages and, eight 90-minute sessions and a two-month follow-up. The participants responded to Yaarmohammadi Vasel et al.'s Love Schema Questionnaire (2021) and Leahy Emotional Schema Scale (LESS). The data were analyzed using a visual drawing method, reliable change index (RCI), and recovery percentage formula. Findings: The results showed that couple therapy based on acceptance and commitment increased adaptive emotional schemas and decreased maladaptive emotional schemas of couples with extramarital relationships (p<0.05). Couple therapy based on acceptance and commitment significantly affects the secure love schema, unstable love schema, clingy love schema, avoidant love schema, and non-serious love schema (p<0.05) and its results continued until the follow-up stage. Conclusion: Therefore, couple therapy based on acceptance and commitment as a stable intervention to increase love and emotional schemas can be used in health and treatment centers for couples with extramarital relationships.
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Ruszkiewicz, Dorota. "Pre-marital cohabitation." Pedagogika Rodziny 4, no. 1 (March 1, 2014): 81–98. http://dx.doi.org/10.2478/fampe-2014-0008.
Повний текст джерелаАнотація:
Abstract The aim of this study is gaining knowledge of the quality of life of cohabitating engaged couples. The research procedures are focused on the following issues: reasons for making decisions about moving in together, period of time since meeting each other, after which the decision of leaving together was made, the housing situation, the affianced couple judgment of the relationship quality after moving in together, drawbacks of living together before marriage as observed by respondents, the background of the decisions of marriage made by the engaged couple after leaving together. The study, which included 94 respondents, i.e. 47 engaged couples living together, used a method of diagnostic survey. A questionnaire and an interview were used as methods of research.
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Dumbraveanu, Ion, Iurii Arian, Victoria Ghenciu, Mariana Creciun, Andrei Bradu, Mihaela Ivanov, and Emil Ceban. "Diagnostic evaluation and therapeutic management of the male in the infertile couple." Akademos, no. 2(69) (October 2023): 87–98. http://dx.doi.org/10.52673/18570461.23.2-69.10.
Повний текст джерелаАнотація:
About 15-20 % couples have no children or have not enough than they want. About 50 % of the causes infertility in the couple its related to the male etiological factor. Only 60 -70 % of the causes of male infertility are known, 40 % is considered idiopathic or unexplained. The diagnostic and therapeutic management of the male infertility is permamently addapted to new scientific discoveries. The purpose of the article is a analaisys of the methods of diagnostic and treatment of male infertility through the the scientiphic discovery acording to the data providen in international guidelines. Male infertility has multiple etiological factors (urology, endocrine, genetic) and requires a adequate evaluation, which is not limited to spermogram analasys. In case of infertile couple, the male must be examined totaly not only to elucidate and treat the etiological factors involved, but to diagnose other concomitent other than urologic disorder with potential consequences for the futher quality and duration of life.
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L, Risha Nahar, Vyjayanthi S, Varalakshmi Mallidi, and Kanaka Bhushanam GVVS. "Genetic evaluation in infertility: Case of infertile couple with deletion and duplication of chromosome 9q12." Journal of Medical and Scientific Research 3, no. 1 (January 2, 2015): 22–26. http://dx.doi.org/10.17727/jmsr.2015/3-4.
Повний текст джерелаАнотація:
Infertility is defined as the inability of women to ever bear a child or become pregnant after one year unprotected sexual intercourse or carry a pregnancy to a live birth. Genetic counseling can increase a couple's chance of having a healthy baby. Some forms of infertility, particularly sperm abnormalities in males and oligomenorrhoea/ amenorrhoea in females have a genetic basis. Couples with these forms of infertility may be at increased risk for transmitting infertility to their children, for having a miscarriage or for having a child with a serious genetic condition. Based on international guidelines for appropriate use of genetic testing in infertility, cytogenetic testing is strongly advised in all cases of infertility. Apart from this, there are several other molecular genetic tests such as Y chromosome deletions, FRAX-A, CFTR gene analysis that are recommended during diagnostic work up of infertility and prior to ART. In the present paper, we report a case of an infertile couple who were referred for genetic evaluation for infertility prior to ART. The husband had a partial trisomy of 9q12 heterochromatin region [46,XY,dup(9)(q12)] while the wife had a partial monosomy of the same 9q12 heterochromatin region [46,XX,del(9)(q12)]. The case discussion emphasizes the role of genetic testing and counseling in infertility cases to determine the etiology of infertility, determination of risk of genetically abnormal offspring. This helps the couple make an informed choice regarding their reproductive choices. Genetic testing and genetic counselling should always be part of an extensive evaluation of infertile couples, especially those opting for ART. Keywords: Genetic evaluation; infertility; deletion and duplication of chromosome 9q12
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Milenković, R., S. Dementjevs, L. Stingelin, and M. Bopp. "RF power coupler—Combined cavitation diagnostics." Nuclear Instruments and Methods in Physics Research Section A: Accelerators, Spectrometers, Detectors and Associated Equipment 694 (December 2012): 38–46. http://dx.doi.org/10.1016/j.nima.2012.07.027.
Повний текст джерела
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Barría, Daniela, and Stefan Kimeswenger. "Analysis of Multiple Shell Planetary Nebulae Based on HST/WFPC2 Extended 2D Diagnostic Diagrams." Galaxies 6, no. 3 (August 3, 2018): 84. http://dx.doi.org/10.3390/galaxies6030084.
Повний текст джерелаАнотація:
The investigation of gaseous nebulae, emitting in forbidden lines, is often based extensively on diagnostic diagrams. The special physics of these lines often allows for disentangling with a few line ratios normally coupled thermodynamic parameters like electron temperature, density and properties of the photo-ionizing radiation field. Diagnostic diagrams are usually used for the investigation of planetary nebulae as a total. We investigated the extension of such integrated properties towards spatially resolved 2D diagnostics, using Hubble Space Telescope/Wide Field Planetary Camera 2 (HST/WFPC2) narrow band images. For this purpose, we also derived a method to isolate pure Hα emission from the [N ii] contamination as normally suffering in the F656N HST/WFPC2 filter.
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O’Rourke, Amanda K., Brian K. Arbic, and Stephen M. Griffies. "Frequency-Domain Analysis of Atmospherically Forced versus Intrinsic Ocean Surface Kinetic Energy Variability in GFDL’s CM2-O Model Hierarchy." Journal of Climate 31, no. 5 (March 2018): 1789–810. http://dx.doi.org/10.1175/jcli-d-17-0024.1.
Повний текст джерелаАнотація:
Low-frequency variability at the ocean surface can be excited both by atmospheric forcing, such as in exchanges of heat and momentum, and by the intrinsic nonlinear transfer of energy between mesoscale ocean eddies. Recent studies have shown that nonlinear eddy interactions can excite an energy transfer from high to low frequencies analogous to the transfer of energy from high to low wavenumbers (small to large spatial scales) in quasi-two-dimensional turbulence. As the spatial inverse cascade is driven by oceanic eddies, the process of energy exchange across frequencies may be sensitive to ocean model resolution. Here a cross-spectrum diagnostic is applied to the oceanic component in a hierarchy of fully coupled ocean–atmosphere models to address the transfer of ocean surface kinetic energy between high and low frequencies. The cross-spectral diagnostic allows for a comparison of the relative contributions of coupled atmospheric forcing through wind stress and the intrinsic advection to low-frequency ocean surface kinetic energy. Diagnostics of energy flux and transfer within the frequency domain are compared between three coupled models with ocean model horizontal resolutions of 1°, 1/4°, and 1/10° to address the importance of resolving eddies in the driving of energy to low frequencies in coupled models.
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Kim, Daehyun, Prince Xavier, Eric Maloney, Matthew Wheeler, Duane Waliser, Kenneth Sperber, Harry Hendon, et al. "Process-Oriented MJO Simulation Diagnostic: Moisture Sensitivity of Simulated Convection." Journal of Climate 27, no. 14 (July 10, 2014): 5379–95. http://dx.doi.org/10.1175/jcli-d-13-00497.1.
Повний текст джерелаАнотація:
Abstract Process-oriented diagnostics for Madden–Julian oscillation (MJO) simulations are being developed to facilitate improvements in the representation of the MJO in weather and climate models. These process-oriented diagnostics are intended to provide insights into how parameterizations of physical processes in climate models should be improved for a better MJO simulation. This paper proposes one such process-oriented diagnostic, which is designed to represent sensitivity of simulated convection to environmental moisture: composites of a relative humidity (RH) profile based on precipitation percentiles. The ability of the RH composite diagnostic to represent the diversity of MJO simulation skill is demonstrated using a group of climate model simulations participating in phases 3 and 5 of the Coupled Model Intercomparison Project (CMIP3 and CMIP5). A set of scalar process metrics that captures the key physical attributes of the RH diagnostic is derived and their statistical relationship with indices that quantify the fidelity of the MJO simulation is tested. It is found that a process metric that represents the amount of lower-tropospheric humidity increase required for a transition from weak to strong rain regimes has a robust statistical relationship with MJO simulation skill. The results herein suggest that moisture sensitivity of convection is closely related to a GCM’s ability to simulate the MJO.
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Berkov, Yu P., E. D. Naumov, V. V. Petrov, and S. V. Shantyr'. "Diagnostic method and device for friction couples." Chemical and Petroleum Engineering 29, no. 11 (November 1993): 572–73. http://dx.doi.org/10.1007/bf01147326.
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Zhang, Xin. "Statefinder diagnostic for coupled quintessence." Physics Letters B 611, no. 1-2 (March 2005): 1–7. http://dx.doi.org/10.1016/j.physletb.2005.02.022.
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Sugihara, Alessa, Usha Punjabi, Ella Roelant, and Diane De Neubourg. "Is There a Relationship between Sperm DNA Fragmentation and Intra-Uterine Insemination Outcome in Couples with Unexplained or Mild Male Infertility? Results from the ID-Trial." Life 13, no. 1 (December 20, 2022): 11. http://dx.doi.org/10.3390/life13010011.
Повний текст джерелаАнотація:
Background: Sperm DNA fragmentation has been proposed as a candidate test for the assessment of sperm function on the premise that damage to the sperm chromatin is associated with a detrimental reproductive outcome. The objective of our study was to investigate whether sperm DNA fragmentation testing has a prognostic value, and thus can play a pivotal role in selecting future patients for intra-uterine insemination (IUI) therapy. Methods: This was a prospective cohort study conducted in a University Hospital setting. SDF was measured through TUNEL assay on the fresh semen sample presented at diagnosis and at insemination in couples with idiopathic/mild male infertility undergoing natural cycle IUI treatment. The generalized estimating equation (GEE)-model and multivariable model were used to analyze the probability of live birth and clinical pregnancy, respectively. ROC analysis was carried out to determine an SDF cut-off. Results: There was an inverse relationship between SDF in the ejaculate of the diagnostic semen sample and CP (p = 0.02; OR 0.94 95% CI (0.90, 0.989)) as well as LB (p = 0.04; OR 0.95 95% CI (0.90, 0.9985)). No significant association was found between SDF after gradient and IUI outcome in the diagnostic sample nor between SDF (ejaculate/after gradient) in the IUI samples. The ROC analysis proposed a cutoff of 17.5% as the best compromise between sensitivity and specificity in the diagnostic SDF for live birth; however, the test diagnostics are low, with an AUC of 0.576. Conclusions: Overall, this study strengthens the hypothesis of an inverse relationship between SDF and CP/LB. Furthermore, SDF taken together with other clinical characteristics might provide more insight into male reproductive potential and predicting IUI outcome. Couples with SDF ≥ 17.5% in the diagnostic semen sample did not reach live birth. Further research is necessary to establish the diagnostic and prognostic potential of SDF as an add-on test.
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Rakesh Sharma. "Enhancing Gastrointestinal Disease Detection through Augmented Deep Learning." Communications on Applied Nonlinear Analysis 32, no. 8s (February 5, 2025): 537–47. https://doi.org/10.52783/cana.v32.3715.
Повний текст джерелаАнотація:
In recent years, deep learning has become a cornerstone of advancements in medical imaging, facili- tating significant improvements in early disease detection. This study presents a phased approach to optimizing gastrointestinal (GI) disease diagnostics by implementing a structured data augmentation and preprocessing phase. Leveraging an expanded dataset with novel clinically rele- vant classes, this phase seeks to increase model robustness and classification accuracy. Our methodology employs targeted data augmentation techniques coupled with Ef- ficientNetV2 for detailed feature extraction in endoscopic imagery. Initial results underscore the potential for sub- stantial improvements in diagnostic precision, particularly in identifying nuanced GI conditions. By focusing on this foundational phase, this work establishes a framework for developing advanced AI-driven diagnostic tools tailored for GI disease detection.
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Yao, Lan, Xun Kan, Yuxin Xia, Luyao Wang, Xueyu Zhao, and Yingli Lu. "Chromosome balanced translocation in newborn fetus founded during prenatal diagnosis: Three cases reports." Medicine 103, no. 10 (March 8, 2024): e37345. http://dx.doi.org/10.1097/md.0000000000037345.
Повний текст джерелаАнотація:
Rationale: Because of the normal phenotype, carriers of specific chromosomal translocations are often diagnosed only after their development of associated malignancies, recurrent miscarriages, and reproductive difficulties. In this paper, we report primary balanced fetal chromosomal translocations by performing the necessary invasive prenatal diagnosis in couples with previous malformations coupled with prenatal testing suggesting a high risk for trisomy 21. Patient concerns: Case 1 and Case 2 couples had malformed children, and Case 3 couples had a high risk of trisomy 21 on noninvasive preconception serological testing. Diagnosis and intervention: A balanced chromosomal translocation diagnosis was confirmed by karyotyping of fetal cells obtained by amniocentesis. Outcomes: All 3 couples decided to continue their pregnancies after learning about the consequences of the chromosomal abnormalities. Approximately a year after the children were born, the staff of the Prenatal Diagnostic Center followed up with a phone call and found that the children physical development and intelligence were normal. Lesson: This case report reports healthy chromosomal balanced translocation newborns born to couples with poor maternal history and couples with abnormalities suggested by preconception testing, and followed up with the newborns to provide some experience in prenatal diagnosis and genetic counseling for chromosomal balanced translocations.
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Robins, Jared. "Is Unexplained Infertility Underdiagnosed Infertility? How Far Should We Look?" Fertility & Reproduction 05, no. 04 (December 2023): 282. http://dx.doi.org/10.1142/s2661318223740961.
Повний текст джерелаАнотація:
Unexplained infertility is defined when couples are unable to conceive despite undergoing thorough medical assessments that do not reveal any identifiable cause for their infertility. Because this is a diagnosis of exclusion, a comprehensive workup must be performed to rule out known etiologies for the couple’s infertility. This lecture aims to discuss the scope of these investigations and cutting-edge research exploring the complexities of this diagnosis. By delving into the depts of available diagnostic tools, attendees will be better equipped to navigate unexplained infertility and to counsel patients with this diagnosis. Ultimately this lecture will help health care providers to gain insight into how far they should extend their investigations to establish the diagnosis of “unexplained infertility” to help couples overcome this difficult obstacle to conception.
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Liberto, Juliane M., Sheng-Yin Chen, Ie-Ming Shih, Tza-Huei Wang, Tian-Li Wang, and Thomas R. Pisanic. "Current and Emerging Methods for Ovarian Cancer Screening and Diagnostics: A Comprehensive Review." Cancers 14, no. 12 (June 11, 2022): 2885. http://dx.doi.org/10.3390/cancers14122885.
Повний текст джерелаАнотація:
With a 5-year survival rate of less than 50%, ovarian high-grade serous carcinoma (HGSC) is one of the most highly aggressive gynecological malignancies affecting women today. The high mortality rate of HGSC is largely attributable to delays in diagnosis, as most patients remain undiagnosed until the late stages of -disease. There are currently no recommended screening tests for ovarian cancer and there thus remains an urgent need for new diagnostic methods, particularly those that can detect the disease at early stages when clinical intervention remains effective. While diagnostics for ovarian cancer share many of the same technical hurdles as for other cancer types, the low prevalence of the disease in the general population, coupled with a notable lack of sensitive and specific biomarkers, have made the development of a clinically useful screening strategy particularly challenging. Here, we present a detailed review of the overall landscape of ovarian cancer diagnostics, with emphasis on emerging methods that employ novel protein, genetic, epigenetic and imaging-based biomarkers and/or advanced diagnostic technologies for the noninvasive detection of HGSC, particularly in women at high risk due to germline mutations such as BRCA1/2. Lastly, we discuss the translational potential of these approaches for achieving a clinically implementable solution for screening and diagnostics of early-stage ovarian cancer as a means of ultimately improving patient outcomes in both the general and high-risk populations.
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Shaidukova, L. K. "А systemic apprоaсh to alcoholism among married couples". Neurology Bulletin XXXII, № 1-2 (15 травня 2000): 35–39. http://dx.doi.org/10.17816/nb77768.
Повний текст джерелаАнотація:
129 alcoholic wоmen were observed from families witl1 alcoholic addiction. Study of social and psychologic factors, ensuring formation of paired, coupled alcoholism showed the importance of choosing а marital partner. Some main reasons of choosing by а women а partner with alcoholic habits were given: 1) more frequent alcohol consumption, less resistance to alcohol; 2) their belonginess to alcoholic environment; 3) as а result of formed stereotype of marital behavior; 4) in accordance with similar character features. These peculiarities are to be taken into consideration in accomplishing medical and psychologic activities for early diagnostics of alcoholic couples.
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Tesarik, Jan, and Raquel Mendoza-Tesarik. "Molecular Clues to Understanding Causes of Human-Assisted Reproduction Treatment Failures and Possible Treatment Options." International Journal of Molecular Sciences 23, no. 18 (September 8, 2022): 10357. http://dx.doi.org/10.3390/ijms231810357.
Повний текст джерелаАнотація:
More than forty years after the first birth following in vitro fertilization (IVF), the success rates of IVF and of IVF-derived assisted reproduction techniques (ART) still remain relatively low. Interindividual differences between infertile couples and the nature of the problems underlying their infertility appear to be underestimated nowadays. Consequently, the molecular basis of each couple’s reproductive function and of its disturbances is needed to offer an individualized diagnostic and therapeutic approaches to each couple, instead of applying a standard or minimally adapted protocols to everybody. Interindividual differences include sperm and oocyte function and health status, early (preimplantation) embryonic development, the optimal window of uterine receptivity for the implanting embryo, the function of the corpus luteum as the main source of progesterone production during the first days of pregnancy, the timing of the subsequent luteoplacental shift in progesterone production, and aberrant reactions of the uterine immune cells to the implanting and recently implanted embryos. In this article, the molecular basis that underlies each of these abnormalities is reviewed and discussed, with the aim to design specific treatment options to be used for each of them.
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Friedrich, Corinna, and Frank Tüttelmann. "Genetics of female and male infertility." Medizinische Genetik 36, no. 3 (September 5, 2024): 161–70. http://dx.doi.org/10.1515/medgen-2024-2040.
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Abstract Infertility is defined as the inability to conceive within one year of unprotected intercourse, and the causes are equally distributed between both sexes. Genetics play a crucial role in couple infertility and respective diagnostic testing should follow available guidelines. Appropriate tiered genetic analyses require comprehensive physical examination of both partners in an infertile couple. A wide range of chromosomal and monogenic variants can be the underlying genetic cause of infertility in both women and men. Accurate clinical phenotyping, together with identification of the genetic origin, helps to recommend the proper treatment and to counsel couples on the success rates and potential risks for offspring.
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Sundukov, A. Ye, and Ye V. Shakhmatov. "Series of diagnostic indicators of gearbox teeth wear in aircraft gas turbine engines." VESTNIK of Samara University. Aerospace and Mechanical Engineering 21, no. 4 (January 18, 2023): 109–17. http://dx.doi.org/10.18287/2541-7533-2022-21-4-109-117.
Повний текст джерелаАнотація:
Aircraft gas turbine engine gearboxes are intended for providing optimum rotational speeds for propellers and fans. Wear of the tooth flanks is their key and most dangerous defect. The defect generates vibrations leading to fatigue failure of engine components. Vibration-based diagnostics is the most effective tool of non-destructive testing of the technical condition of rotating machines. This review of the known diagnostic indicators of the defect in question shows the need for its significant expansion. Previously performed researches made it possible to suggest a series of diagnostic indicators of tooth wear for the sun gear satellites couple in the differential reducer of a gas turbine engine. It is shown that the mathematical models of the dependence of the levels of diagnostic indicators on the wear value have both linear and power form. It was found that diagnostic indicators described by power dependences are the closest ones to the model of wear development. It is noted that when selecting diagnostic indicators for operating conditions, the optimal ones should be recognized as those based on the parameters of the current frequency.
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Aruleba, Kehinde, George Obaido, Blessing Ogbuokiri, Adewale Oluwaseun Fadaka, Ashwil Klein, Tayo Alex Adekiya, and Raphael Taiwo Aruleba. "Applications of Computational Methods in Biomedical Breast Cancer Imaging Diagnostics: A Review." Journal of Imaging 6, no. 10 (October 8, 2020): 105. http://dx.doi.org/10.3390/jimaging6100105.
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With the exponential increase in new cases coupled with an increased mortality rate, cancer has ranked as the second most prevalent cause of death in the world. Early detection is paramount for suitable diagnosis and effective treatment of different kinds of cancers, but this is limited to the accuracy and sensitivity of available diagnostic imaging methods. Breast cancer is the most widely diagnosed cancer among women across the globe with a high percentage of total cancer deaths requiring an intensive, accurate, and sensitive imaging approach. Indeed, it is treatable when detected at an early stage. Hence, the use of state of the art computational approaches has been proposed as a potential alternative approach for the design and development of novel diagnostic imaging methods for breast cancer. Thus, this review provides a concise overview of past and present conventional diagnostics approaches in breast cancer detection. Further, we gave an account of several computational models (machine learning, deep learning, and robotics), which have been developed and can serve as alternative techniques for breast cancer diagnostics imaging. This review will be helpful to academia, medical practitioners, and others for further study in this area to improve the biomedical breast cancer imaging diagnosis.
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Kovačić, Nada, Gerhard A. Meyer, Liu Ke-Ling, and Ramon M. Barnes. "Diagnostics in an air inductively coupled plasma." Spectrochimica Acta Part B: Atomic Spectroscopy 40, no. 7 (January 1985): 943–57. http://dx.doi.org/10.1016/0584-8547(85)80065-3.
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Mishra, Aditi, Manish Dev Sharma, Archna Tandon, Farah Ahsan, Rajesh Rayal, Naveen Gaurav, and Pankaj Pant. "Impacts and Causes of Female Infertility: An Observational Study." Scientific Temper 13, no. 02 (December 12, 2022): 19–24. http://dx.doi.org/10.58414/scientifictemper.2022.13.2.03.
Повний текст джерелаАнотація:
Male and female infertility is one of the medical, physiological, and emotional factorsamong couples willing to have a child. It is defined unable to achieve pregnancy after regularintercourse for 12 months without using any protection (contraceptive pills or condoms). Thereare many factors that work as a barrier to the couple for a successful conception. These factorscould be environmental, lifestyle, past medical history, and emotional. About 15 to 20% ofa couple of their reproductive age are currently suffering from this trauma in India only. Nothaving a child, consider an isolated or cut-off person in society which ultimately affects notonly the mental status of the couple as well as sociological effects. This is an observationalstudy in which we counter many demographic and reproductive factors, those work as anobstacle to a successful pregnancy in couples. That couple who are of their reproductive age,visiting an IVF center has a bundle of emotions and stress with them along with new hope tobe pregnant. Infertility has been also related to some other factors like physical conditions,environmental conditions, psychological issues, and also acquired risk factors. In females,Menstrual disorders, past medical history, hormonal disorders, overweight/obesity, and manydemographic factors, and habits, play a significant role in causing infertility. The average lengthof the marriage of infertile couples, their duration of infertility, and sterility at the first visit tothe infertility clinic has been also considered. The couples who had experienced at least oneof the assisted reproductive techniques such as microinjection, intrauterine infusion (IUI), andin-vitro fertilization (IVF) are included in this study. During this study period, All the infertilewomen who had diagnostic laparoscopy for primary infertility were included and the femalewho had less than 12 months of marriage or who had pregnancy at least once were excluded.Different environmental, physiological, and psychological conditions emphasized the need tostudy the different causes of female and male infertility in each area.
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Mahal, Ajay, Anil Varshney, and Srinivas Taman. "Diffusion of diagnostic medical devices and policy implications for India." International Journal of Technology Assessment in Health Care 22, no. 2 (March 28, 2006): 184–90. http://dx.doi.org/10.1017/s0266462306051002.
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Objectives:This study describes the diffusion of advanced diagnostic devices in India and assess implications for efficiency in resource use and equity.Methods:Commodity-level import statistics, household survey data, and interviews with medical device sellers are used to assess the spread of diagnostic devices. Published qualitative evidence, case studies of diagnostic service providers, and cross-country analyses are used to identify the reasons underlying the spread of medical devices in India. Case studies of public and private providers and data from 150 hospitals in one Indian state are used to assess efficiency in resource use and the distributive impacts of diagnostic devices.Results:High-end medical device inflows rose during the 1990s, with both supply- and demand-side factors influencing this trend. Although our results suggest that the overall quantity of advanced diagnostics in India is not excessive, there is some evidence of inefficiency in public facilities and possibly unethical practices in private diagnostic facilities. The unequal geographical distribution of magnetic resonance imaging facilities, coupled with inefficient use of medical devices in public facilities suggests inequality in access.Conclusions:The study points to major regulatory gaps and health system inefficiencies and suggests ways in which these gaps can be addressed.
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F, Naeem. "Prevalence Along with Diagnostic Modalities and Treatment of Female Infertility Due to Female Genital Disorders." Virology & Immunology Journal 4, no. 3 (September 8, 2020): 1–6. http://dx.doi.org/10.23880/vij-16000249.
Повний текст джерелаАнотація:
Infertility is a communal pathological ailment now-a-days worldwide and approximately females are mostly suffering from this condition. In previous studies, out of 2.4 million married couples have females in between the ages from 15-44 year; 1.0 million couples were suffering from primary infertility and 1.4 million couples had secondary infertility. The infertility causes are ovulatory factors, dietary factors, psychological factors, abnormal endocrine functions, fallopian tube disorders etc. PCOS, PIDs, endometriosis. The ultrasonography is the most powerful tool for diagnosis. The treatment involves medical, surgical and assisted reproduction. Medical treatment includes clomiphene, metformin, iron & folic acid supplements along with oralcontraceptives. Surgical treatment is operative laparoscopy and assisted reproduction is achieved by IVF, GIFT & IUI etc. It is concluded from the study that the percentage prevalence of female infertility among ages was higher in age group (25-34) years (76%) and it was mostly secondary infertility (54%). The main pathological factor of female infertility in Sialkot city was PCOS, which was 52% of evaluated patients. Commonly used diagnostic tools were ultrasonography with prevalence of 100% and endocrine tests (72%). In prescription trend, anti-obesity drugs, anti-oestrogen drugs and oral-contraceptives were commonly prescribed and other treatment interventions were also seen in few patients.
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Eyring, Veronika, Lisa Bock, Axel Lauer, Mattia Righi, Manuel Schlund, Bouwe Andela, Enrico Arnone, et al. "Earth System Model Evaluation Tool (ESMValTool) v2.0 – an extended set of large-scale diagnostics for quasi-operational and comprehensive evaluation of Earth system models in CMIP." Geoscientific Model Development 13, no. 7 (July 30, 2020): 3383–438. http://dx.doi.org/10.5194/gmd-13-3383-2020.
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Abstract. The Earth System Model Evaluation Tool (ESMValTool) is a community diagnostics and performance metrics tool designed to improve comprehensive and routine evaluation of Earth system models (ESMs) participating in the Coupled Model Intercomparison Project (CMIP). It has undergone rapid development since the first release in 2016 and is now a well-tested tool that provides end-to-end provenance tracking to ensure reproducibility. It consists of (1) an easy-to-install, well-documented Python package providing the core functionalities (ESMValCore) that performs common preprocessing operations and (2) a diagnostic part that includes tailored diagnostics and performance metrics for specific scientific applications. Here we describe large-scale diagnostics of the second major release of the tool that supports the evaluation of ESMs participating in CMIP Phase 6 (CMIP6). ESMValTool v2.0 includes a large collection of diagnostics and performance metrics for atmospheric, oceanic, and terrestrial variables for the mean state, trends, and variability. ESMValTool v2.0 also successfully reproduces figures from the evaluation and projections chapters of the Intergovernmental Panel on Climate Change (IPCC) Fifth Assessment Report (AR5) and incorporates updates from targeted analysis packages, such as the NCAR Climate Variability Diagnostics Package for the evaluation of modes of variability, the Thermodynamic Diagnostic Tool (TheDiaTo) to evaluate the energetics of the climate system, as well as parts of AutoAssess that contains a mix of top–down performance metrics. The tool has been fully integrated into the Earth System Grid Federation (ESGF) infrastructure at the Deutsches Klimarechenzentrum (DKRZ) to provide evaluation results from CMIP6 model simulations shortly after the output is published to the CMIP archive. A result browser has been implemented that enables advanced monitoring of the evaluation results by a broad user community at much faster timescales than what was possible in CMIP5.
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Rulev, V. V., Е. I. Abashova, Е. V. Mischarina, V. V. Poteen, and М. А. Tarasova. "Laparoscopy in diagnostics and treatment of hormonal infertility." Journal of obstetrics and women's diseases 54, no. 5S (November 15, 2005): 29–30. http://dx.doi.org/10.17816/jowd87203.
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Kuanaeva, Regina M., Alexander N. Vaneev, Petr V. Gorelkin, and Alexander S. Erofeev. "Nanopipettes as a Potential Diagnostic Tool for Selective Nanopore Detection of Biomolecules." Biosensors 14, no. 12 (December 19, 2024): 627. https://doi.org/10.3390/bios14120627.
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Nanopipettes, as a class of solid-state nanopores, have evolved into universal tools in biomedicine for the detection of biomarkers and different biological analytes. Nanopipette-based methods combine high sensitivity, selectivity, single-molecule resolution, and multifunctionality. The features have significantly expanded interest in their applications for the biomolecular detection, imaging, and molecular diagnostics of real samples. Moreover, the ease of manufacturing nanopipettes, coupled with their compatibility with fluorescence and electrochemical methods, makes them ideal for portable point-of-care diagnostic devices. This review summarized the latest progress in nanopipette-based nanopore technology for the detection of biomarkers, DNA, RNA, proteins, and peptides, in particular β-amyloid or α-synuclein, emphasizing the impact of technology on molecular diagnostics. By addressing key challenges in single-molecule detection and expanding applications in diverse biological areas, nanopipettes are poised to play a transformative role in the future of personalized medicine.
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Chouvarine, Philippe, Željko Antić, Jana Lentes, Charlotte Schröder, Julia Alten, Monika Brüggemann, Enrique Carrillo-de Santa Pau, et al. "Transcriptional and Mutational Profiling of B-Other Acute Lymphoblastic Leukemia for Improved Diagnostics." Cancers 13, no. 22 (November 12, 2021): 5653. http://dx.doi.org/10.3390/cancers13225653.
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B-cell precursor acute lymphoblastic leukemia (BCP-ALL) is the most common cancer in children, and significant progress has been made in diagnostics and the treatment of this disease based on the subtypes of BCP-ALL. However, in a large proportion of cases (B-other), recurrent BCP-ALL-associated genomic alterations remain unidentifiable by current diagnostic procedures. In this study, we performed RNA sequencing and analyzed gene fusions, expression profiles, and mutations in diagnostic samples of 185 children with BCP-ALL. Gene expression clustering showed that a subset of B-other samples partially clusters with some of the known subgroups, particularly DUX4-positive. Mutation analysis coupled with gene expression profiling revealed the presence of distinctive BCP-ALL subgroups, characterized by the presence of mutations in known ALL driver genes, e.g., PAX5 and IKZF1. Moreover, we identified novel fusion partners of lymphoid lineage transcriptional factors ETV6, IKZF1 and PAX5. In addition, we report on low blast count detection thresholds and show that the use of EDTA tubes for sample collection does not have adverse effects on sequencing and downstream analysis. Taken together, our findings demonstrate the applicability of whole-transcriptome sequencing for personalized diagnostics in pediatric ALL, including tentative classification of the B-other cases that are difficult to diagnose using conventional methods.
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Lippi, Giuseppe, and Mario Plebani. "Integrated diagnostics." Biochemia medica 30, no. 1 (February 15, 2020): 18–30. http://dx.doi.org/10.11613/bm.2020.010501.
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The current scenario of in vitro and in vivo diagnostics can be summarized using the “silo metaphor”, where laboratory medicine, pathology and radiology are three conceptually separated diagnostic disciplines, which will increasingly share many comparable features. The substantial progresses in our understanding of biochemical-biological interplays that characterize many human diseases, coupled with extraordinary technical advances, are now generating important multidisciplinary convergences, leading the way to a new frontier, called integrated diagnostics. This new discipline, which is currently defined as convergence of imaging, pathology and laboratory tests with advanced information technology, has an enormous potential for revolutionizing diagnosis and therapeutic management of human diseases, including those causing the largest number of worldwide deaths (i.e. cardiovascular disease, cancer and infectious diseases). However, some important drawbacks should be overcome, mostly represented by insufficient information technology infrastructures, costs and enormous volume of different information that will be integrated and delivered. To overcome these hurdles, some specific strategies should be defined and implemented, such as planning major integration of exiting information systems or developing innovative ones, combining bioinformatics and imaging informatics, using health technology assessment for assessing cost and benefits, providing interpretative comments in integrated reports, developing and using expert systems and neural networks, overcoming cultural and political boundaries for generating multidisciplinary teams and integrated diagnostic algorithms.
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Randi Rizal. "Enhancing Gastrointestinal Disease Diagnosis with KNN: A Study on WCE Image Classification." International Journal of Artificial Intelligence in Medical Issues 1, no. 1 (May 31, 2023): 45–55. http://dx.doi.org/10.56705/ijaimi.v1i1.133.
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This study explores the application of the K-Nearest Neighbors (KNN) algorithm, following Sobel segmentation and Hu Moment feature extraction, to classify Wireless Capsule Endoscopy (WCE) images into Normal and Ulcerative Colitis conditions. Through a rigorous 5-fold cross-validation approach, the research aimed to determine the KNN algorithm's accuracy, precision, recall, and F1-score on the WCE Curated Colon Disease Dataset. The findings revealed high performance across all metrics, with accuracy rates extending up to 90.625%. The confusion matrix provided further validation, illustrating a high true positive rate coupled with a low false negative rate. These results substantiate the hypothesis that employing edge detection and shape descriptors as pre-processing techniques can significantly enhance the efficacy of machine learning algorithms in medical image classification. The study’s contribution is twofold: it reaffirms the potential of machine learning in the advancement of medical diagnostics and provides a methodological framework for automated image classification that can assist clinicians. It is recommended that future research extends to broader datasets and explores various algorithms to enhance diagnostic precision. In practice, integrating this research into a clinical decision support system could revolutionize diagnostic processes, offering a non-invasive, accurate, and efficient tool for gastroenterological diagnostics.
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Săbău, Ileana-Delia, Laurentiu-Camil Bohîltea, Viorica Elena Rădoi, Anca Mirela Bardan, Ovidiu Virgil Maioru, Mihaela Țurcan, Viorel Aurel Suciu-Lazar, and Iuliana Ceausu. "The Importance of Prenatal Whole-Exome Sequencing Testing in the Romanian Population." Journal of Mind and Medical Sciences 12, no. 1 (March 14, 2025): 7. https://doi.org/10.3390/jmms12010007.
Повний текст джерелаАнотація:
One major cause of prenatal mortality and morbidity is congenital abnormalities. Knowing the prevalence and etiology of congenital malformations is essential for analyzing trends and improving neonatal care. Objective: the team aimed to evaluate the utility of whole-exome sequencing (WES) in Romanian prenatal care, highlighting its diagnostic efficacy in comparison to molecular karyotyping, particularly in cases with negative genetic results prior to WES, unfavorable pregnancy outcomes, and consanguinity. Methods: Initially, we identified pregnancies with abnormal ultrasounds unrelated to known syndromes. Subsequently, we performed SNP (single nucleotide polymorphism)-array testing, yielding negative results. We then applied prenatal WES, utilizing Massive Parallel Sequencing on the NovaSeq 6000 platform (average coverage > 100× read length: 2 × 100 bp) with library preparation using the Twist Human Core Exome kit RefSeq & Mitochondrial panel (Twist Bioscience). The bioinformatic analysis involved direct comparison to the human reference sequence (hg38). Results: We achieved a 50% diagnostic rate. After receiving results, two couples chose pregnancy termination, five had uneventful births, and one pregnancy ended in stillbirth. Additionally, we identified three incidental findings that enhanced patient and at-risk member management. This article details ten prenatal cases tested with WES, highlighting its superior diagnostic performance compared to the SNP array. WES detected the genetic diagnostic in 50% of cases that the SNP array did not. We emphasize the advantages of WES in prenatal diagnostics while acknowledging the need for further investigations to comprehensively evaluate its diagnostic utility in the Romanian population.
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A. Aaisha Nazleem, Et al. "Advancement in Denoising MRI Images via 3D-GAN Model with Direction Coupled Magnitude Histogram Consistency Loss." International Journal on Recent and Innovation Trends in Computing and Communication 11, no. 11 (November 30, 2023): 105–17. http://dx.doi.org/10.17762/ijritcc.v11i11.9112.
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The diagnostics of medical pictures are essential for recognizing and comprehending a wide range of medical problems. This work introduces the Direction Coupled Magnitude Histogram (DCMH) as a novel structure picture descriptor to improve diagnostic accuracy. One of DCMH's unique selling points is its ability to include the edge oriented information that are oriented in any way inside a frame, enabling the expression of delicate nuances using various gradient features. The proposed method applies cartoon texture based textural loss and DCMH based structural loss to identify and analyse structural and textural information during the denoising time. A major contribution that improves the interpretability of images by emphasizing structural aspects that is inherent to the image. The proposed DCMH_3D_GANaverage results show exceptional performance, with an SSIM of 0.972995 and PSNR of 48.74, highlighting the effectiveness of the DCMH-based method in enhancing medical picture diagnosis. The capacity of Structured Loss to improve picture interpretability and lead to a more precise diagnosis is unquestionably advantageous. The newly developed DCMH-based approach, which includes texture loss and structured components, is a promising development in healthcare image processing that will enable better patient care through enhanced diagnostic abilities.
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Wasilewski, Tadeusz, Jolanta Wasilewska, Marta Łukaszewicz-Zając, and Barbara Mroczko. "Subfertility as Overlapping of Nutritional, Endocrine, Immune, and Cardiometabolic Dysregulations—A Study Focused on Biochemical Endophenotypes of Subfertile Couples." Journal of Clinical Medicine 12, no. 18 (September 21, 2023): 6094. http://dx.doi.org/10.3390/jcm12186094.
Повний текст джерелаАнотація:
Subfertility is a global health issue, and as many as 30% of cases are attributed to unexplained reasons. A hypercaloric, high-fat diet stimulates the expansion of pro-inflammatory gut microbiota with a consequent rise in circulating lipopolysaccharides. Adverse gut microbiota remodeling can exacerbate insulin resistance, while sex and thyroid hormones may influence the variability in gut microbiota. This cross-sectional study included 150 participants and was designed to determine a biochemical, nutritional-related pattern that may distinguish subfertile from fertile individuals and couples. A panel of 28 biomarkers was assessed. Four biochemical phenotypes of unexplained subfertility were found, including two metabolic and two immune, when assessed using binary logistic regression models. Two phenotypes were distinguished in women: cardio-metabolic with atherogenic dyslipidemia (LowHDL-cholesterol: OR = 10.9; p < 0.05) and autoimmune thyroid disorder (Highanti-thyroid-peroxidase: OR = 5.5; p < 0.05) and two in men: hepato-metabolic with elevated liver injury enzymes (HighHOMA-IR: OR = 6.1; p < 0.05) and immune type-2 response (HighIgE: OR = 6.4; p < 0.05). The chances of a couple’s subfertility rose with the number of laboratory components of metabolic syndrome in the couple (OR = 1.7; p < 0.05) and if at least one partner had an elevated total IgE level (>100 kU/L) (OR = 6.5; p < 0.05). This study found that unexplained subfertility may be accompanied by mutually overlapping immune and metabolic dysregulations in individuals and couples. We propose one-time laboratory diagnostics taking into account the lipid profile, insulin resistance, anti-thyroid-peroxidase, and total IgE in both males and females with unexplained subfertility. This may allow for a one-time assessment of targeted medical and nutritional interventions and help optimize patients’ health. The gut–organ axes related to subfertility are discussed in the context of the obtained results.
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Zitouni, K., C. Kagosso, B. Boutakioute, M. Ouali Idrissi, and N. Cherif Idrissi El Ganouni. "ANEVRISME DE LARTERE SPLENIQUE SYMPTOMATIQUE SECONDAIRE A UNE ENDOCARDITE INFECTIEUSE." International Journal of Advanced Research 9, no. 10 (October 31, 2021): 454–57. http://dx.doi.org/10.21474/ijar01/13566.
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Lartere splenique est la troisieme plus frequente localisation des anevrysmes apres laorte et les arteres iliaques.(1) Les anevrysmes infectieuses arteriels sont des lesions vasculaires rares mais potentiellement mortelles en raison de leur haut risque de rupture. Lendocardite bacterienne comme le traumatisme et un deficit immunitaire en sont les facteurs favorisants.(2) Nous rapportons le cas dune patiente âgee de 22 ans, hospitalisee en service cardio-vasculaire pour endocardite infectieuse. En depit de son caractere rare, lendocardite infectieuse peut compliquer des sites vasculaires, produisant des anevrysmes visceraux arteriels dus aux emboles septiques. Lechographie abdominale couplee a un complement dangioscanner abdominale sont des outils diagnostics essentiels dans lapproche diagnostic.
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Garcia-Junior, Marcelo Augusto, Bruno Silva Andrade, Marco Guevara-Vega, Igor Santana de Melo, Thúlio M. Cunha, Ana Carolina Gomes Jardim, and Robinson Sabino-Silva. "Oral Infection, Oral Pathology and Salivary Diagnostics of Mpox Disease: Relevance in Dentistry and OMICs Perspectives." International Journal of Molecular Sciences 24, no. 18 (September 21, 2023): 14362. http://dx.doi.org/10.3390/ijms241814362.
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In this narrative review, we aim to point out the close relationship between mpox virus (MPXV) infection and the role of saliva as a diagnostic tool for mpox, considering the current molecular approach and in the perspective of OMICs application. The MPXV uses the host cell’s rough endoplasmic reticulum, ribosomes, and cytoplasmic proteins to replicate its genome and synthesize virions for cellular exit. The presence of oral mucosa lesions associated with mpox infection is one of the first signs of infection; however, current diagnostic tools find it difficult to detect the virus before the rashes begin. MPXV transmission occurs through direct contact with an infected lesion and infected body fluids, including saliva, presenting a potential use of this fluid for diagnostic purposes. Currently available diagnostic tests for MPXV detection are performed either by real-time quantitative PCR (RT-qPCR) or ELISA, which presents several limitations since they are invasive tests. Despite current clinical trials with restricted sample size, MPXV DNA was detected in saliva with a sensitivity of 85%–100%. In this context, the application of transcriptomics, metabolomics, lipidomics, or proteomics analyses coupled with saliva can identify novel disease biomarkers. Thus, it is important to note that the identification and quantification of salivary DNA, RNA, lipid, protein, and metabolite can provide novel non-invasive biomarkers through the use of OMICs platforms aiding in the early detection and diagnosis of MPXV infection. Untargeted mass spectrometry (MS)-based proteomics reveals that some proteins also expressed in saliva were detected with greater expression differences in blood plasma when comparing mpox patients and healthy subjects, suggesting a promising alternative to be applied in screening or diagnostic platforms for mpox salivary diagnostics coupled to OMICs.
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Tadokoro, M., A. Itoh, N. Nakano, Z. L. Petrovic, and T. Makabe. "Diagnostics of an inductively coupled plasma in oxygen." IEEE Transactions on Plasma Science 26, no. 6 (1998): 1724–32. http://dx.doi.org/10.1109/27.747892.
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Abdullin, I. Sh, A. N. Bykanov, I. G. Gafarov, O. E. Ibragimov, and R. F. Sharafeev. "Spectral diagnostics of inductively coupled RF discharge plasma." High Energy Chemistry 46, no. 4 (July 2012): 271–75. http://dx.doi.org/10.1134/s0018143912040029.
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Hioki, Kazuya, Hajime Hirata, Shosaku Matsumura, Zoran Lj Petrović, and Toshiaki Makabe. "Diagnostics of an inductively coupled CF4/Ar plasma." Journal of Vacuum Science & Technology A: Vacuum, Surfaces, and Films 18, no. 3 (May 2000): 864–72. http://dx.doi.org/10.1116/1.582268.
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Ying, Hai, Jennifer Murphy, John W. Tromp, J. M. Mermet, and Eric D. Salin. "Warning diagnostics for inductively coupled plasma-mass spectrometry." Spectrochimica Acta Part B: Atomic Spectroscopy 55, no. 4 (April 2000): 311–26. http://dx.doi.org/10.1016/s0584-8547(00)00144-0.
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Velikova, M. V., V. V. Timofeev та D. V. Ryzhkova. "Аpproaches to the production of theranostic couples of radiopharmaceuticals for the diagnosis and treatment of prostate cancer: a literature review". Russian Journal for Personalized Medicine 3, № 3 (28 липня 2023): 172–85. http://dx.doi.org/10.18705/2782-3806-2023-3-3-172-185.
Повний текст джерелаАнотація:
Currently, prostate cancer (PC) is one of the most common malignant neoplasms in men. More than 400,000 cases of prostate cancer are diagnosed annually in the world; in a number of countries, it occupies the second or third place in the structure of oncological diseases. A promising technology for the diagnosis and treatment of oncological diseases in nuclear medicine is radiotheranostics as an integrated approach that combines diagnostics and therapy using a single chemical molecule, but different ratioisotopes. For prostate cancer, the diagnostic radioisotope 68Ga and the therapeutic isotopes — 177Lu and 225Ac are used. The article discusses modern technologies for the production of radiopharmaceuticals for the diagnosis and radionuclide treatment of prostate cancer using theranostic pairs based on 68Ga/177Lu isotopes, as well as the prospects for the synthesis of new therapeutic radiopharmaceuticals labeled with the 177Lu isotope.
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Kulichenko, A. N., and N. S. Sarkisyan. "To the question regarding accuracy of COVID-2019 laboratory diagnostics." Russian Journal of Infection and Immunity 11, no. 1 (February 28, 2021): 9–16. http://dx.doi.org/10.15789/2220-7619-ttq-1622.
Повний текст джерелаАнотація:
Issues of accuracy (sensitivity and specificity) of PCR-analysis depending on features of performing preanalytical and analytical stages of laboratory diagnostics of COVID-19, as well as comparing PCR and lung computed tomography (CT) results have been analyzed in the study. Currently, a molecular genetic test based on polymerase chain reaction (PCR) is used for diagnostics of a new coronavirus infection (COVID-19). As of November 1, 2020, more than 750 million PCR tests have been conducted globally. Evidence accumulated by now allows to estimate diagnostic sensitivity and specificity of the SARS-CoV-2-specific PCR as high as 82—91% and 99—100%, respectively. In addition, increased PCR sensitivity may be noted upon performing repeated testing of the upper respiratory tract samples comprising 82.2% during the primary analysis that was further elevated up to 90.6% after two consecutive tests. A whole set of factors affect the PCR accuracy. In particular, false negative data might result from insufficient amount of virus-coupled genetic material in the sample, timeframe and mistakes made upon selecting biological samples. It was found that SARS-CoV-2 virus RNA was detected at the maximum diagnostic sensitivity in the upper respiratory tract 1—3 days before the onset of symptoms and sustained within the 5—6 days after disease onset. Such period of time is associated with the peak risk of SARS-CoV-2 transmission. On week 2 after disease onset, there have been noted elevated rate of detecting viral RNA in bronchopulmonary samples. The duration of detecting virus-related markers (including those found in the absence of viable virus forms) correlates with disease severity and may last for as long as 1—2 months. Another real-world issue related to PCR analysis is posed by an opportunity of obtaining false positive data, which solution requires high level organized laboratory research, especially in case large-scale studies. Upon that, it is worth noting that positive PCR results may account for detecting solely certain RNA-related fragments present in any sample, rather than a viable virus. It was noted that PCR in comparison to CT analysis demonstrates higher specificity, but does not allow to distinguish pneumonia caused by SARS-CoV-2 from pneumonia caused by other etiological agents (up to 25% false positive results). However, the diagnostic CT sensitivity was 97.2% that exceeds such parameter for PCR by 10—15%. It was concluded that the approach combining use of both PCR and CT by taking into account their own features as well as factors affecting the accuracy of the data obtained, allows us to correctly interpret the diagnostical results.