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Definition of the mutation responsible for maple syrup urine disease in Poll Shorthorns and genotyping Poll Shorthorns and Poll Herefords for maple syrup urine disease alleles.

The organisation of the E1alpha subunit of bovine branched-chain alpha-keto acid dehydrogenase gene was established. c DNA was cloned from Poll Shorthorn x Poll Hereford calves affected with Maple Syrup Urine Disease to identify the mutation responsible for the disease in Poll Shorthorns. Clones containing the c DNA sequences inherited from the Poll Shorthorn sire of the affected calves were identified. Paternal clones were sequenced and a cytidine to thymidine transition was found at nucleotide 1380. The mutation is predicted to substitute leucine in place of a highly conserved proline at cod

Effects of preconceptional irradiation on mortality and cancer incidence in the offspring of patients given injections of Thorotrast.

BACKGROUND: Findings from a British case-control study suggest that a preconceptional paternal external radiation dose of more than 100 mSv (10 rem) is significantly related to risk for leukemia and non-Hodgkin's lymphoma in offspring. The suggestion, however, has not been supported by experimental or other epidemiologic studies. PURPOSE: The purpose of this study was to investigate if preconceptional irradiation of males and females from internally deposited radionuclides affects mortality and risk of developing cancer in their offspring. METHODS: The offspring of 260 females (n = 143) and

Teeth as a Post-Mortem DNA Source for Forensic Parentage Verification in Dogs: A Case Report.

In post-mortem genetic identification, teeth represent one of the most reliable sources of nuclear DNA when other biological samples are unavailable, owing to their ability to protect genetic material from autolysis, microbial degradation, and environmental insults. The present study describes a forensic veterinary case report involving a Staffordshire Bull Terrier litter in which the appearance of blue-coated offspring from a phenotypically black sire and a blue dam prompted parentage verification. The sire died before formal ante-mortem sampling could be carried out. In accordance with Regul

Suicidal ideation and suicide attempt among pregnant adolescent girls in Ghana: a cross-sectional study.

BACKGROUND: Globally, suicide is the third leading cause of death among girls aged 15-19 years. However, there is a growing concern that suicide research has paid little attention to pregnant adolescent girls, particularly in low-income and middle-income countries, including Ghana, where nearly one in seven adolescents experiences (unwanted) pregnancy. AIMS: To assess the prevalence and correlates of suicidal ideation and suicide attempt and the self-reported reasons for attempted suicide among pregnant adolescent girls in Ghana. METHODS: We collected cross-sectional data (between August 202

Diagnosis of very long chain acyl-dehydrogenase deficiency from an infant's newborn screening card.

Very long chain fatty acid dehydrogenase (VLCAD) deficiency is a rare but treatable cause of cardiomyopathy, fatty liver, skeletal myopathy, pericardial effusions, ventricular arrhythmias, and sudden death. Unrecognized, VLCAD deficiency may be rapidly progressive and fatal, secondary to its cardiac involvement. Because early diagnosis improves outcome, we present a neonate with VLCAD deficiency in whom retrospective analysis of the newborn screening card revealed that a correct diagnosis could have been made by newborn screening using tandem mass spectrometry. Our patient demonstrated a class

Prenatal valproate exposure and risk of autism spectrum disorders and childhood autism.

IMPORTANCE: Valproate is used for the treatment of epilepsy and other neuropsychological disorders and may be the only treatment option for women of childbearing potential. However, prenatal exposure to valproate may increase the risk of autism. OBJECTIVE: To determine whether prenatal exposure to valproate is associated with an increased risk of autism in offspring. DESIGN, SETTING, AND PARTICIPANTS: Population-based study of all children born alive in Denmark from 1996 to 2006. National registers were used to identify children exposed to valproate during pregnancy and diagnosed with autism

[Vascular placental pathology in high-risk groups: definition and synopsis].

The vascular placental pathology (VPP) is associated with many etiologies. Some are the consequence of a maternal genetic or acquired predisposition. Others are associated with a chronic maternal disease (hypertension, lupus, obesity, diabetes, ...). Finally, some others are associated with placental implantation leading to fetal ischemia (multiple pregnancy, chorioangioma, primiparity, feto-placental hydrops) or to environmental (altitude) or nutritional factors (famine and specific alimentary depressions). We classify these factors into three categories according to the risk level (moderate,

Locally Updated Bootstrap Embedding.

STUDY QUESTION: What is the natural history of outcomes of sperm cryostorage at an Australian tertiary academic centre? SUMMARY ANSWER: Cryostorage is feasible in virtually all men facing gonadotoxic therapy but the timing of sperm disposal varies according to the reason for it. WHAT IS KNOWN ALREADY: Gonadotoxic treatment for cancer or non-cancer diseases damages spermatogenesis and impairs male fertility. Sperm cryopreservation is an established technique to preserve male fertility prior to gonadotoxic treatment. STUDY DESIGN, SIZE, DURATION: A retrospective review of clinical, anthropome

[Hyperechogenic fetal bowel as a marker of fetal cystic fibrosis].

INTRODUCTION: Hyperechogenic bowel (HB) occurs in 0.1 to 1.8% of normal pregnancies. In most cases it has no consequence for the foetus, but can be associated with cystic fibrosis (CF), chromosomal defects, genetic syndromes, viral infections, gastrointestinal pathology, missed gravidity, IUGR and preterm labour. OBJECTIVES: Assessment the risk of the foetus having CF or other abnormalities when HB was detected during ultrasound screening in the second trimester of pregnancy in our centre. DESIGN: Retrospective study. SETTING: Department of Obstetrics and Gynecology, Centre of Fetal Medicin

The association between the number of oocytes retrieved for IVF, perinatal outcome and obstetric complications.

STUDY QUESTION: Is there an association between the number of oocytes retrieved for IVF, and perinatal and obstetric outcomes? SUMMARY ANSWER: No significant association was found between the number of oocytes retrieved and perinatal outcomes, while an association was found for placenta praevia and male gender. WHAT IS KNOWN ALREADY: Previous studies have shown that between 6 and 15 oocytes retrieved is optimal for the live birth rate in fresh cycles. In a recent study, we showed that the cumulative live birth rate, including fresh and all cryopreservation cycles following one OPU, increases

Non-utilization of selected newborn postnatal care and associated factors among postpartum women in East Africa: a multilevel mixed-effect analysis using the most recent DHS data 2016-2023.

INTRODUCTION: Selected newborn postnatal care refers to selected early postnatal care within the first two days after birth, which can prevent up to 40% of neonatal death. Annually, over one million neonates die soon after birth every year worldwide, with sub-Saharan African countries, particularly east African countries, bearing a disproportionate burden. Despite the importance of these interventions, there is limited up-to-date information on the determinants of non-utilization of selected newborn postnatal care among postpartum women in East Africa. Therefore, this study aimed to assess the

Epidemiologic evidence of relationships between reproductive and child health outcomes and environmental chemical contaminants.

This review summarizes the level of epidemiologic evidence for relationships between prenatal and/or early life exposure to environmental chemical contaminants and fetal, child, and adult health. Discussion focuses on fetal loss, intrauterine growth restriction, preterm birth, birth defects, respiratory and other childhood diseases, neuropsychological deficits, premature or delayed sexual maturation, and certain adult cancers linked to fetal or childhood exposures. Environmental exposures considered here include chemical toxicants in air, water, soil/house dust and foods (including human breas

Two novel mutations, Q1053H and C1060R, located in the D3 domain of von Willebrand factor, are responsible for decreased FVIII-binding capacity.

INTRODUCTION: Congenital anomalies (CAs) represent one of the main cause of foetal death, infant mortality and morbidity, and long-term disability. CAs have been object of systematic registration activity for a long-time in many geographical areas in Europe and worldwide. CAs are often associated with disabilities of different types and severity, including the developed Countries worldwide. According to the World Health Organization (WHO), each year approximately 3,2 million of children worldwide are born with a CA and approximately 300,000 newborns with a diagnosis of birth defect die within

Многострановое исследование базы данных для оценки результатов беременности и младенчества после возможного воздействия кладрибинных таблеток на матерей или отцов при лечении множественного склероза: методы исследования КЛЕО и обновление статуса.

СПРАВОЧНАЯ ИНФОРМАЦИЯ: Кладрибинные таблетки противопоставляются во время беременности; таким образом, данные о безопасности беременности, подверженной такому лечению, ограничены. СЛАР собирает и описывает результаты беременности в этой недостаточно изученной группе населения. ЦЕЛИ: Описание основных особенностей структуры исследования, проведенного в рамках программы < < ЯДЕР > > , включая источники данных и методологический подход, и представление обновленной информации о ходе работы. DESIGN: CLEAR представляет собой неинтервенционное, многобазовое, сравнительное когортное исслед

School performance in singletons born after assisted reproductive technology.

STUDY QUESTION: Is school performance in children conceived after assisted reproductive technology (ART) comparable to those conceived after spontaneous conception (SC)? SUMMARY ANSWER: Singleton children born after ART performed better in the crude analysis than singleton children born after SC although after adjustment, small differences were observed in total scores in favour of SC children. WHAT IS KNOWN ALREADY: While it is well known that ART children, also singletons, have an adverse perinatal outcome, studies on cognitive skills in ART children are inconsistent and only few studies h

Resuscitating Patient Rights during the Pandemic: COVID-19 and the Risk of Resurgent Paternalism.

The COVID-19 Pandemic a stress test for clinical medicine and medical ethics, with a confluence over questions of the proportionality of resuscitation. Drawing upon his experience as a clinical ethicist during the surge in New York City during the Spring of 2020, the author considers how attitudes regarding resuscitation have evolved since the inception of do-not-resuscitate (DNR) orders decades ago. Sharing a personal narrative about a DNR quandry he encountered as a medical intern, the author considers the balance of patient rights versus clinical discretion, warning about the risk of resurg

Генетическая основа болезни.

Генетика в той или иной степени играет определенную роль во всех заболеваниях. Изменения в нашей ДНК и различия в том, как эта ДНК функционирует (одиночка или комбинация), наряду с окружающей средой (которая включает образ жизни), способствуют болезнетворным процессам. В рамках этого обзора изучается генетическая основа человеческих заболеваний, включая однородные генетические расстройства, хромосомные диспропорции, эпигенетические, раковые и сложные расстройства, и рассматривается вопрос о том, каким образом наше понимание и технологические достижения могут быть использованы для обеспечения н

New approaches to divorce with children: A problem of public health.

This broad review elaborates on the most up-to-date knowledge on biochemical and psychobiological aspects of parental loss and other childhood adversities during divorce involving minor children. So far, divorce involving minor children was unfortunately considered by authorities only as a purely juridical problem, and this approach has often allowed a completely different approach according to the Courts. Now, scientific research, also making use of animal models, is demonstrating the biological basis of the problem and the indisputable consequences on the well-being and health of children. T

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… The relationship between paternal death and height is entirely mediated by age at puberty; no evidence of a direct relationship between childhood family disruption and adult height. Another link between parenting and human biology was found by Human Lauren et al. (2014) . …