Результаты поиска

Obstructive sleep apnea in children: How it affects parental psychological status?

PURPOSE OF THE STUDY: The aim of this study was to evaluate the influence of obstructive sleep apnea (OSA) in children on maternal and paternal anxiety. PATIENTS AND METHODS: This prospective study was conducted from January 2013 until January 2016 in the Ear, Nose and Throat (ENT) Department at the University Hospital of Split, Croatia. The parents of 59 children with a median age of 5 years (range: 2-9) who were suffering from obstructive sleep apnea (OSA) due to adenotonsillar hypertrophy were enrolled into the study. All children were scheduled for adenoidectomy or adenotonsillectomy beca

Aberrant DNA methylation of imprinted loci in human spontaneous abortions after assisted reproduction techniques and natural conception.

STUDY QUESTION: Do assisted reproduction techniques (ARTs) affect DNA methylation of imprinted genes and does aberrant methylation of imprinted genes account for the incidence of human spontaneous abortion (SA)? SUMMARY ANSWER: Our results show that imprinting errors of imprinted genes may contribute to human SA, and the occurrence of aberrant methylation of imprinted genes in ART pregnancies was comparable with that in natural pregnancies. WHAT IS KNOWN ALREADY: Animal data and human studies demonstrated that in vitro culture of embryos can cause methylation defects in individual genes, whi

Association Between Socioeconomic Status and In Utero Fetal Brain Development.

IMPORTANCE: Children raised in settings with lower parental socioeconomic status are at increased risk for neuropsychological disorders. However, to date, the association between socioeconomic status and fetal brain development remains poorly understood. OBJECTIVE: To determine the association between parental socioeconomic status and in vivo fetal brain growth and cerebral cortical development using advanced, 3-dimensional fetal magnetic resonance imaging. DESIGN, SETTING, AND PARTICIPANTS: This cohort study of fetal brain development enrolled 144 healthy pregnant women from 2 low-risk comm

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 … . Adjustments were made for child gender and year of birth, maternal age, parity, maternal smoking, paternal age, parental region of birth, parental education and socioeconomic class. MAIN RESULTS AND THE ROLE OF CHANCE: Data on 1 507 990 singletons in the ninth grade and registered by the Swedish School Authority were included. In the crude analysis, mean to …

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

Independent factors associated with intracytoplasmic sperm injection outcomes in patients with complete azoospermia factor c microdeletions.

STUDY QUESTION: Which independent factors influence ICSI outcomes in patients with complete azoospermia factor c (AZFc) microdeletions? SUMMARY ANSWER: In patients with complete AZFc microdeletions, the sperm source, male LH, the type of infertility in women, and maternal age are the independent factors associated with ICSI outcomes. WHAT IS KNOWN ALREADY: AZF microdeletions are the second most prevalent factor contributing to infertility in men, with AZFc microdeletions being the most frequently affected locus, accounting for 60-70% of all cases. The primary clinical phenotypes are oligoast

The metabolic health of young men conceived using intracytoplasmic sperm injection.

STUDY QUESTION: Is the metabolic health of men conceived using ICSI different to that of IVF and spontaneously conceived (SC) men? SUMMARY ANSWER: ICSI-conceived men aged 18-24 years, compared with SC controls, showed differences in some metabolic parameters including higher resting diastolic blood pressure (BP) and homeostasis model assessment for insulin resistance (HOMA-IR) scores, although the metabolic parameters of ICSI- and IVF-conceived singleton men were more comparable. WHAT IS KNOWN ALREADY: Some studies suggest that IVF-conceived offspring may have poorer cardiovascular and metab

Neurogenomics and the role of a large mutational target on rapid behavioral change.

BACKGROUND: Behavior, while complex and dynamic, is among the most diverse, derived, and rapidly evolving traits in animals. The highly labi … rative diseases. The well-known correlation between neurological spectrum disorders in children and paternal age may simply be a direct result of aging fathers accumulating mutations across these large neurodevelopmental genes. The large mutational target hypothesis can also explain the rapid evolution of other functional systems covering a large genomic fract …

Implicit bias in diagnosing mosaicism amongst preimplantation genetic testing providers: results from a multicenter study of 36 395 blastocysts.

STUDY QUESTION: Does the diagnosis of mosaicism affect ploidy rates across different providers offering preimplantation genetic testing for … es were analyzed using multilevel mixed linear regression. Analyses were adjusted for maternal age, paternal age, oocyte source, number of embryos biopsied, day of biopsy, and PGT-A provider, as appropriate. We compared associations between genetic testing providers and PGT-A outcomes, including the number of chromosomally normal (euploid) embryos determined t …

Teasing out specific language impairment from an autism spectrum disorder.

Marcus is a handsome, sweet, 7½-year-old boy with a significant history of delayed development, specifically in speech and language skills, as well as difficulties with social interactions that have led other specialists to be concerned about a diagnosis of an autism spectrum disorder.He has been seen in our primary care practice since birth. He was born full-term after vaginal delivery weighing 6 pounds, 6 ounces. There were no pregnancy or delivery complications noted. Genetic testing revealed normal chromosomes, fragile X, and microarray testing. Marcus was a picky eater and good sleeper an

Birth of 16 healthy children after ICSI in cases of nonmosaic Klinefelter syndrome.

STUDY QUESTION: Does the health status of infants fathered by nonmosaic Klinefelter syndrome (KS) patients whose partners underwent ICSI with sperm obtained from testicular dissection reveal any genetic risk for the offspring?. SUMMARY ANSWER: KS patients undergoing testicular sperm extraction (TESE) are capable of conceiving healthy children. WHAT IS KNOWN ALREADY: Paternity has been successfully achieved in nonmosaic KS patients (47,XXY karyotype) by ICSI using either ejaculated or testicular spermatozoa. A crucial concern is the potential transmission of genetic abnormalities to the offsp

Genes for hereditary sensory and autonomic neuropathies: a genotype-phenotype correlation.

Hereditary sensory and autonomic neuropathies (HSAN) are clinically and genetically heterogeneous disorders characterized by axonal atrophy and degeneration, exclusively or predominantly affecting the sensory and autonomic neurons. So far, disease-associated mutations have been identified in seven genes: two genes for autosomal dominant (SPTLC1 and RAB7) and five genes for autosomal recessive forms of HSAN (WNK1/HSN2, NTRK1, NGFB, CCT5 and IKBKAP). We performed a systematic mutation screening of the coding sequences of six of these genes on a cohort of 100 familial and isolated patients diagno

Связанные с сексом различия в болезни Хантингтона: обзор аналитического исследования.

Болезнь Хантингтона (HD) — это аутосомное и доминирующее нейродегенеративное расстройство, и новые данные свидетельствуют о различиях по признаку пола в проявлении и прогрессировании болезни. ЦЕЛЬ: Обобщение текущих данных о связанных с половой принадлежностью различиях в HD в генетических, клинических, биомаркетных и лечебных областях и выявление пробелов в знаниях. МЕТОДЫ: Поиск литературы был проведен в PubMed и Google Study (до 31.01.2026). В рамках соответствующих исследований были изучены гендерные или гендерные различия в отношении лиц с генетически подтвержденным врачом или лиц, подвер

Совпадение в полном тексте источника
… Some studies further suggested that advanced paternal age contributes to new mutations, although other work did not find a clear relationship between parental age and CAG repeat instability in offspring [ 21 , 28 , 29 ]. … Inverse relationship between age at onset of Huntington disease and paternal age suggests involvement of genetic imprinting. Am J Hum Genet. 1992;50:528–35. 1531729 PMC1684271 13. …

Low-grade disease activity in early life precedes childhood asthma and allergy.

Asthma and allergies are today the most common chronic diseases in children and the leading causes of school absences, chronic medication usage, emergency department visits and hospitalizations, which affect all members of the family and represent a significant societal and scientific challenge. These highly prevalent disorders are thought to originate from immune distortion in early childhood, but the etiology and heterogeneity of the disease mechanisms are not understood, which hampers preventive initiatives and makes treatment inadequate. The objective of this thesis is to investigate the p

The clinical impact of oligozoospermia in oocyte donation ICSI cycles using preimplantation genetic test for aneuploidy.

STUDY QUESTION: Do severely impaired sperm concentrations (oligozoospemia) in male factor infertility affect embryo aneuploidy rates and clinical results after IVF oocyte donation cycles? SUMMARY ANSWER: Severe oligozoospermia (SO) in IVF cycles utilizing donor oocytes does not significantly affect embryo euploidy rates or IVF outcomes or cumulative live birth rates (CLBRs). WHAT IS KNOWN ALREADY: SO has previously been linked to elevated rates of chromosomal abnormalities in spermatozoa and altered rates of embryo development with poorer reproductive outcomes. Nonetheless, the precise impac

[Prevalence of pervasive developmental disorders. A review].

INTRODUCTION: Estimates of the prevalence of autism and pervasive developmental disorders (PDD) are discordant and are moving towards an apparent increase in rates. LITERATURE REVIEW: The studies carried out since 1966 illustrate the variability of the protocols used and explanatory hypotheses put forward. These investigations are difficult, sparse, but still growing at the same time that a debate develops on the possible increase in actual prevalence. Indeed, the rate initially admitted for classic autism was 5/10,000, then 1/1000 with an expanded definition to the forms, but the current fig

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

Геномический диагноз детских расстройств: революция и эволюция.

Мощные, последние достижения в технологиях анализа генома оказали глубокое воздействие на практику медицинской генетики как в лаборатории, так и в клинике. Более широкое использование общегеномных тестов, таких, как анализ хромосомных микроарра и последовательность экзомов, привело к переходу к "генотипному" подходу. В настоящее время имеются многочисленные методы диагностики конкретного синдрома или фенотипа, и, хотя традиционные методы остаются эффективными инструментами в некоторых ситуациях, технологии с более высокой производительностью фактически стали лабораторным инструментом диагности

Design and implementation of an Internet-Based cancer risk assessment tool: Use over 10 years.

BackgroundPrevention and early intervention can improve survival and quality of life across all cancers. Patient understanding of risk factors and associated actionable lifestyle changes and screening programs is not well understood by clinicians METHODS: An Internet-based tool, Reduce My Risk, was created in 2009 and made available on oncolink.org. Users voluntarily completed a survey regarding demographics and cancer risk factors, and received information about their cancer risk RESULTS: Twenty eight thousand and one surveys were completed from 2009 to 2019. Median age was 26 years (18-101);

Metastatic melanoma to the ovary in pregnancy: A case report.

Metastatic melanoma to the ovary is an uncommon presentation. We report a case of metastatic melanoma to the ovary that presented as a growing left adnexal mass during pregnancy and was thought to be benign by imaging and frozen section pathology. Here we discuss the challenges in radiologic and pathologic diagnosis, as well as considerations for the mother and newborn.