47,279 research outputs found

    Perinatal outcomes after assisted reproductive technology in the assisted reproduction unit of Marqués de Valdecilla University Hospital

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    RESUMEN: Introducción: Las gestaciones tras FIV-ICSI se han relacionado con peores resultados obstétricos y perinatales en numerosos estudios. Objetivo: Estimar el efecto de las técnicas FIV-ICSI sobre la morbimortalidad materna y perinatal. Material y métodos: En este estudio de cohortes retrospectivo, los datos fueron recogidos de pacientes a quienes se les realizó un tratamiento de FIV-ICSI en la unidad de reproducción asistida del HUMV y de gestantes espontáneas entre enero de 2016 y diciembre de 2017. Resultados: El grupo de gestaciones tras FIV-ICSI mostró mayor riesgo de enfermedad hipertensiva del embarazo (RR 3,24; IC95% 1,66-6,47), diabetes gestacional (RR 2,12; IC95%, 1,04-4,34), CIR (RR 3,57; IC95%, 1,52-8,43), embarazo gemelar, parto pretérmino (RR 2,82; IC95%, 1,61-4,92), bajo peso al nacimiento y malformaciones congénitas (RR 1,85; IC95% 1,11-3,07). No se encontraron diferencias estadísticamente significativas para otras complicaciones. Conclusiones: Las gestaciones obtenidas tras FIV-ICSI están relacionadas con el aumento de la prevalencia de ciertas complicaciones obstétricas y peores resultados perinatales en comparación con gestaciones espontáneas. Se requieren más estudios para determinar la etiología exacta de estos resultados.ABSTRACT: Introduction: FIV-ICSI pregnancies have been associated with worse obstetric and perinatal outcomes in multiple studies. Material and methods: In this retrospective cohort study, data were collected from FIV-ICSI treatments in the assisted reproduction unit of HUMV and spontaneus pregnancies from January 2016 to December 2017. Results: The FIV-ICSI group showed higher risk of hyppertensive stages of pregnancy (RR 3,24; IC95% 1,66-6,47), gestational diabetes (RR 2,12; IC95%, 1,04-4,34), CIR (RR 3,57; IC95%, 1,52-8,43), twin pregnancy (RR 10,33; IC95%, 3,98-26,78), premature birth (RR 2,82; IC95%, 1,61-4,92), low birth weitgh and congenital malformations (RR 1,85; IC95% 1,11-3,07). No statistically significant differences were found for other complications. Conclusions: Pregnancies using FIV-ICSI are associated with an increased prevalence of certain obstetric complications and worse perinatal outcomes in comparation with espontaneous pregnancies. More studies are needed to determine the etiology of this results.Grado en Medicin

    Deliberate delays in offering abortion to pregnant women with fetal anomalies after 24 weeks' gestation at a centre in South Africa

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    South Africa has an abortion law which codifies the broad themes of reproductiverights set out in the Constitution of South Africa, other laws and national guidelines.Certain wording of the conditions in the Choice Act for abortion after 20 weeks'gestation, are open to interpretation, being‘severe malformation of the fetus’and‘risk of injury to the fetus’. From 24 weeks onwards, abortion is carried out byfeticide/induced fetal cardiac asystole (‘IFCA’) and subsequent induction of labour inSouth Africa. Some maternal‐fetal units have developed guidelines to assist cliniciansand patients in decision‐making around eligibility for abortion after 20 weeks'gestation, given the broad terms in the law. We consider the guideline used by aninstitution in the Western Cape for abortion after 23 weeks and 6 days gestation, interms of its alignment with the law on reproductive rights and its compliance withfair and transparent procedures. We also note its effect on respect for patients andon staff professionalism

    Bayesian networks for disease diagnosis: What are they, who has used them and how?

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    A Bayesian network (BN) is a probabilistic graph based on Bayes' theorem, used to show dependencies or cause-and-effect relationships between variables. They are widely applied in diagnostic processes since they allow the incorporation of medical knowledge to the model while expressing uncertainty in terms of probability. This systematic review presents the state of the art in the applications of BNs in medicine in general and in the diagnosis and prognosis of diseases in particular. Indexed articles from the last 40 years were included. The studies generally used the typical measures of diagnostic and prognostic accuracy: sensitivity, specificity, accuracy, precision, and the area under the ROC curve. Overall, we found that disease diagnosis and prognosis based on BNs can be successfully used to model complex medical problems that require reasoning under conditions of uncertainty.Comment: 22 pages, 5 figures, 1 table, Student PhD first pape

    Classification of genetic load

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    The term “genetic load” refers to the accumulation of lethal and sublethal harmful mutations that significantly reduce an individual’s viability or result in their death when the mutation enters a homozygous state. Each type of genetic load in farm animals correlates with a certain type of natural or artificial selection in them. In animal husbandry, four types of genetic load are generally distinguished: mutation, immigration, segregation, and substitution

    Corneal ectasia, cerulean (blue dot) cataract with acute hydrops in a child with Down's syndrome and hypothyroidism - a rare presentation

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    Down's syndrome or trisomy 21 is a genetic disorder caused by presence of all or a part of a third copy of chromosome 21. Keratoconus occurs in up to 15% of the adult population with Down's syndrome. There is a close consortium between trisomy 21 and keratoconus (a conical ectatic protrusion of the cornea), and children with Down's syndrome are also susceptible to developing thyroid disease, including hypothyroidism and thyrotoxicosis with exophthalmos. The authors describe a case report on acute corneal hydrops with congenital cerulean cataract in a patient with Down's syndrome with hypothyroidism having bilateral advanced keratoconus. As per the detailed literature review, this is the first case of Down's syndrome with hypothyroidism presenting with acute corneal hydrops

    The Genetics of Pain: An exploration of gene-by-environment interactions and their effects on pain

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    The findings presented in this dissertation are part of the bigger SYMBIOME project which aims to use the biopsychosocial model of pain to develop a prognostic clinical phenotype for people that experience musculoskeletal (MSK) trauma. Chapter 2 presents an exploratory analysis to assess the relationships between genetic polymorphisms and pain severity and interference. Early childhood trauma was also explored as a moderator between genetic polymorphisms and pain outcomes. For pain severity, major allele carriers (A/A and G/A) of FKBP5 rs9394314 reported significantly higher scores than minor allele carriers (G/G). Further, major allele carriers who had at least one adverse childhood experience (ACE) reported significantly higher scores than minor allele carriers with at least one ACE. For pain interference, minor allele carriers (G/G) of CNR2 rs2501431 scored significantly higher than major allele carriers (A/A and G/A). Chapter 3 presents a cluster analysis that combines genotypes of FKBP5 rs9394314 and CNR2 rs2501431 to explore meaningful relationships with pain and trauma-related distress. ACE was also explored as a moderator of these relationships. Three clusters were identified where the second cluster characterized by major allele carriers of rs9394314 and minor allele carriers of rs2501431 reported significantly higher pain-related functional interference scores. Participants in the second cluster with at least one ACE reported higher pain interference and traumatic distress scores compared to the third cluster, while participants in the first cluster with at least one ACE reported higher pain severity compared to the first cluster. Chapter 4 presents genomic structural equation models (SEM) that explore the relationships of genotypes with trauma-related distress using the traumatic injuries distress scale (TIDS), ACE, and recovery outcomes. The results demonstrate a relationship between TIDS and recovery outcomes, and an indirect relationship between FKBP5 rs9394314 and recovery outcomes exist which is mediated by TIDS. Major allele carriers of FKBP5 rs9394314 reported higher TIDS scores, which was also demonstrated for participants that had at least one ACE. Major allele carriers that scored higher on the TIDS were predicted to be in the none-recovered category. These results support the notion that gene-x-environment interactions may play an important role in pain and recovery

    Pregnancy with congenital heart disease

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    Pregnancy is complicated by maternal cardiovascular disease in 1%-4% of cases. With advances in management of congenital heart diseases (CHDs), the survival to adulthood and childbearing age is increasing all over the world. The physiological adaptation during pregnancy adds to the hemodynamic burden of CHD, and, hence, many women are diagnosed with CHD for the first time during pregnancy, more so in developing countries. The type of underlying CHD and pre-pregnancy hemodynamics determine the risk of developing complications during pregnancy. Hence, pre-pregnancy risk stratification and counseling are a crucial part of management plan. Some of the serious CHDs are best treated in the preconception stage. The maximum chance of developing complications is between 28 and 32 weeks of gestation, during labor, and up to two weeks after delivery. Common complications in women with CHD during pregnancy and labor include heart failure, arrhythmias, bleeding/thrombosis, infective endocarditis, and rarely maternal death. Fetal complications include abortion, stillbirth, prematurity, low birth weight, and CHD. Comprehensive knowledge of these complications and their management is very important as an experienced multidisciplinary team is critical for improving outcome of these patients. Special care is required for pregnant women who have pulmonary hypertension, due to either Eisenmenger syndrome or other causes, severe valve stenosis, aortopathy associated with bicuspid aortic valve/coarctation, or severe cyanotic CHDs. Most women with CHD are at low risk, and successful pregnancy is feasible in the majority with optimal management
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