Результаты поиска

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

Testis-Specific Gene C7orf61 Is Involved in Mouse Sperm-Egg Fusion.

INTRODUCTION: Italian Cystic Fibrosis Registry (ICFR) collects data of people with cystic fibrosis through the collaboration with Italian CF referral and support Centres (Italian law 548/93). It aims at analysing medium and long-term clinical and epidemiological trends, identifying healthcare needs at regional and national levels, contributing to healthcare programs and resource allocation (sharing the population of FC centres with the Ministry of Health). Finally, the RIFC shares some of its data with the Italian Medicines Agency (Agenzia Italiana del Farmaco, AIFA) to better define the numbe

Maternal Autoimmune Disease and Childhood-Onset Type 1 Diabetes: A Nationwide Population-Based Nested Case-Control Study.

INTRODUCTION: Type 1 diabetes mellitus (T1DM) is an autoimmune disease that damages insulin-producing pancreatic cells, often appearing in childhood. Global incidence is rising at 2%-3% yearly. Its exact cause is unclear. Prenatal exposures and maternal autoimmune disorders have been reported as potential risk factors. This study aimed to explore how maternal autoimmune conditions might correlate with the onset of T1DM, employing a population-focused approach. METHODS: This is a retrospective population-based cohort study with a nested case-control analysis. Primary data were derived from the

Alport syndrome. Molecular genetic aspects.

Alport syndrome (AS) is a progressive renal disease that is characterised by hematuria and progressive renal failure, and often accompanied by progressive high-tone sensorineural hearing loss and ocular changes in form of macular flecks and lenticonus. AS is a genetic heterogenous disease, and X-linked dominant in about 85% of the families. The autosomal recessive and dominant forms constitute about 15% of the cases. In the first part of the study is a multipoint linkage analysis of 12 families suspected of X-linked AS. The aim of that part of the study was to map a number of X-chromosomal pol

Opening the black box: why do euploid blastocysts fail to implant? A systematic review and meta-analysis.

BACKGROUND: A normal chromosomal constitution defined through PGT-A assessing all chromosomes on trophectoderm (TE) biopsies represents the strongest predictor of embryo implantation. Yet, its positive predictive value is not higher than 50-60%. This gap of knowledge on the causes of euploid blastocysts' reproductive failure is known as 'the black box of implantation'. OBJECTIVE AND RATIONALE: Several embryonic, maternal, paternal, clinical, and IVF laboratory features were scrutinized for their putative association with reproductive success or implantation failure of euploid blastocysts. SE

A prospective cohort study of preconception COVID-19 vaccination and miscarriage.

STUDY QUESTION: To what extent is preconception maternal or paternal coronavirus disease 2019 (COVID-19) vaccination associated with miscarriage incidence? SUMMARY ANSWER: COVID-19 vaccination in either partner at any time before conception is not associated with an increased rate of miscarriage. WHAT IS KNOWN ALREADY: Several observational studies have evaluated the safety of COVID-19 vaccination during pregnancy and found no association with miscarriage, though no study prospectively evaluated the risk of early miscarriage (gestational weeks [GW] <8) in relation to COVID-19 vaccination. Mo

Keyword Index for Volume 107

Аннотация не предоставлена источником. Откройте карточку для перехода к публикации.

Impact of cancer on cryopreserved sperm quality and fertility: A cohort study.

BackgroundSperm quality at cancer diagnosis is often compromised by the disease and any given gonadotoxic treatment will further diminish fertility.ObjectivesHere, we aim to analyze the cryopreserved sperm quality according to the cancer types as well as the fertility outcomes.MethodsOur study included all cancer patients who cryopreserved sperm over 20 years at Erasme Hospital Brussels (from 1999 to 2019). First sperm samples from 111 hematologic, 104 testicular, 19 prostate, 28 gastrointestinal, and 16 neurological cancer patients were compared.ResultsOligozoo-asthenozoospermia was observed

Familial multiple myeloma: report on two families and discussion of screening options.

Multiple myeloma (MM) is a relatively rare haematological malignancy seen in older persons. It has an unknown aetiology and usually occurs incidentally within a family. However, several families have been reported with multiple cases of MM, so that the existence of hereditary MM has been postulated although no causative germline mutations have been detected so far. First-degree relatives of MM patients have been reported to have a relative risk between two and four times higher than normal of developing MM and we presume the risks are higher for relatives in the case of familial MM. Here we re

The patient reported transformation of identity and voice in life-limiting illness.

BackgroundIndividuals facing life-limiting illnesses undergo a profound transformation that encompasses significant physiological changes, in the level of medical care received, and a shift in overall goals of care. This transformation is irreversible and involuntary. However, individuals living with mental health conditions and life-limiting illnesses are not able to go through transformation due to diagnostic overshadowing. Previous research has examined the transformations experienced by caregivers in the context of spinal cord injuries, as well as by professional caregivers in palliative c

Репродуктивная автономия женщин, живущих с множественной миеломой, участвующих в программе профилактики беременности.

Множественная миелома — неизлечимый гематологический рак, который в первую очередь затрагивает пожилых людей. Женщины, имеющие фертильный потенциал, составляют небольшую, но уникальную долю населения, страдающего от многочисленных миелом. Иммуноводные агенты (талидомид, линалидомид и помалидомид) являются высокоэффективными средствами лечения для улучшения длительных периодов глубокой ремиссии и долгосрочного выживания в Множестве миеломы, которые осуществляются в рамках программ контролируемого распределения, требующих наблюдения за беременностью для женщин с потенциалом деторождения, с тем ч

Recurrent NF1 gene variants and their genotype/phenotype correlations in patients with Neurofibromatosis type I.

Neurofibromatosis type I, a genetic condition due to pathogenic variants in the NF1 gene, is burdened by a high rate of complications, including neoplasms, which increase morbidity and mortality for the disease. We retrospectively re-evaluated the NF1 gene variants found in the period 2000-2019 and we studied for genotype/phenotype correlations of disease complications and neoplasms 34 variants, which were shared by at least two unrelated families (range 2-11) for a total 141 of probands and 21 relatives affected by Neurofibromatosis type I. Recurrent variants could be ascribed to the most com

Совпадение в полном тексте источника
… mutational landscape of the Neurofibromatosis type I patients appears related to the gene context and length, differently from other examples of constitutional variability, like FGFR3 or FGFR2 , which show hotspots, a single mutational mechanism causing a gain‐of‐function and a clear correlation to the paternal … age, consistent with the increased number of cell divisions occurring in aging spermatogonia. 38 In NF1 , a correlation with the paternal age has been proposed, but not confirmed by all the studies by our group and others, 14 , 39 , 40 , 41 , 42 possibly due to the still low number of observations. …

Cancer and Obesity: An Obesity Medicine Association (OMA) Clinical Practice Statement (CPS) 2022.

BackgroundThis Obesity Medicine Association (OMA) Clinical Practice Statement (CPS) provides an overview of cancer and increased body fat.MethodsThe scientific information for this CPS is based upon published scientific citations, clinical perspectives of OMA authors, and peer review by the Obesity Medicine Association leadership.ResultsTopics include the increased risk of cancers among patients with obesity, cancer risk factor population-attributable fractions, genetic and epigenetic links between obesity and cancer, adiposopathic and mechanistic processes accounting for increased cancer risk

Treatment of Psoriasis with Secukinumab in Challenging Patient Scenarios: A Review of the Available Evidence.

Psoriasis (PsO) is a common, systemic, chronic, inflammatory disease characterized by key clinical symptoms, including itching, pain, and scaling. PsO is associated with a high prevalence of comorbidities, including other autoimmune diseases and malignancies. Furthermore, special populations, such as pregnant, pediatric, and elderly patients, and those with erythrodermic PsO, are challenging to treat and require tightly monitored disease and treatment management. Because certain populations have demographic or clinical characteristics that can affect the presentation of PsO and complicate trea

A clinicopathologic study of malignancy in VCP-associated multisystem proteinopathy.

BACKGROUND: Valosin containing protein (VCP) is an important protein with many vital functions mostly related to the ubiquitin-proteasome system that provides protein quality control. VCP-associated inclusion body myopathy with Paget disease of bone and frontotemporal dementia, also termed VCP disease and multisystem proteinopathy (MSP 1), is an autosomal dominant disorder caused by monoallelic variants in the VCP gene on human chromosome 9. VCP has also been strongly involved in cancer, with over-activity of VCP found in several cancers such as prostate, pancreatic, endometrial, esophageal ca

A second reported malignancy in a patient with Morquio syndrome.

Morquio syndrome is a rare lysosomal storage disease that affects multiple organ systems. However, it is rarely associated with malignancy. We present the case of a 30-year old man with Morquio syndrome associated with gastric adenocarcinoma. This case also demonstrates two other findings that have not been previously described in patients with Morquio syndrome - malrotation of brainstem and cerebellum, without clinical neurologic deficit, and persistence of fetal lobulation in the kidneys.

Proceedings of the CIMAGO Meeting - Challenges in Oncobiology Coimbra, 31st january 2020.

Аннотация не предоставлена источником. Откройте карточку для перехода к публикации.

Диабет мелитус и риск множественных склерозов: систематический обзор и метаанализ.

Множественные исследования указывают на потенциальную связь между множественным склерозом (MS) и сахарным диабетом (DM). Вместе с тем несоответствия в опубликованных публикациях, которые могут быть использованы в связи с различиями в статистических методах, размерах выборки и структуре исследования, привели к противоречивым выводам. Поэтому мы провели систематический метаанализ, с тем чтобы прояснить взаимосвязь между MS и DM и проинформировать о будущих механистических исследованиях. МЕТОДЫ: Мы провели всеобъемлющий поиск литературы в базах данных сети &quot; Web of Science &quot; , &quot; Pu

Совпадение в полном тексте источника
… Nielsen et al., 2021 ( 13 ) Denmark Cohort study 1633436 NR NR ICD-8, ICD-10 Adjusted for age, sex, birth cohort (1year intervals 1978–1998 and ≧̸1999), as well as for maternal age (<20 20–29, 30–39, ≧̸40years), paternal age (<20, 20–29, 30–39, ≧̸40years), and maternal obesity. …