Results 41 to 50 of about 4,265,740 (294)

Clinical, cytogenetic, and molecular findings of isodicentric Y chromosomes

open access: yesMolecular Cytogenetics, 2019
Background Isodicentric Y chromosomes [idic(Y)] are one of the most common structural abnormalities of the Y chromosome. The prenatal diagnosis of isodicentric Y chromosomes is of vital importance, and the postnatal phenotypes vary widely.
Yang Yang, Wang Hao
doaj   +1 more source

Real‐World Trends in Prenatal Antirheumatic Drug Utilization in Ontario, Canada: A Cross‐Sectional Time‐Series Analysis

open access: yesArthritis Care &Research, EarlyView.
Objective This study aimed to describe real‐world trends in preconception and prenatal use of antirheumatic drugs among pregnant individuals with rheumatic diseases in Ontario, Canada. Methods We conducted a time‐series analysis using repeated cross‐sectional data to examine annual patterns of disease‐modifying antirheumatic drug (DMARD) use among ...
Shenthuraan Tharmarajah   +6 more
wiley   +1 more source

Comprehensive analysis of expanded carrier screening in Shandong Province, China: results from 3929 individuals

open access: yesEuropean Journal of Medical Research
Background Expanded carrier screening (ECS) has emerged as an established and efficient approach for identifying carriers of recessive inherited disorders.
Xiaohan Zhao, Fei Hou, Hua Jin
doaj   +1 more source

Identification of an SRY-negative 46,XX infertility male with a heterozygous deletion downstream of SOX3 gene

open access: yesMolecular Cytogenetics, 2022
Background A male individual with a karyotype of 46,XX is very rare. We explored the genetic aetiology of an infertility male with a kayrotype of 46,XX and SRY negative.
Shengfang Qin, Xueyan Wang, Jin Wang
doaj   +1 more source

Exposure to Bisphenol A induces abnormal fetal heart development by promoting ferroptosis

open access: yesEcotoxicology and Environmental Safety, 2023
Background: Bisphenol A (BPA), a common endocrine-disrupting chemical (EDC), has been revealed to be closely associated with the induction of abnormal heart development, obesity, prediabetes, and other metabolic disorders.
Chen Yujiao   +5 more
doaj   +1 more source

Challenges of maternal and prenatal care in Nigeria [PDF]

open access: yes, 2019
Background and aim: Evidence in the literature indicates that maternal health care by a skilled birth attendant is one of the key strategies for maternal survival.
Matheson, David   +2 more
core   +1 more source

Electrochemical Pathways for Nitrate Conversion to Ammonia: From Environmental Challenges to Ammonia Economy

open access: yesAdvanced Functional Materials, EarlyView.
This perspective presents recent advances in electrocatalytic nitrate reduction, focusing on reaction mechanisms, catalyst design, and electrolyzer configurations. Key challenges in selectivity, stability, and practical wastewater treatment are highlighted, while future directions for advancing sustainable ammonia synthesis and nitrate remediation are ...
Xintong Li   +9 more
wiley   +1 more source

Intelligent Orthopedics: Machine Learning in Diagnosis of Bone Disease, Implants, and Bone Health Monitoring

open access: yesAdvanced Healthcare Materials, EarlyView.
Efficient recovery from traumatic or degenerative diseases is a great challenge, even after all the advancements in bone and cartilage regeneration. Machine learning (ML) algorithms have presented opportunities to enhance these aspects by accurately analyzing imaging data.
Maryam Kamaei   +9 more
wiley   +1 more source

Case Report: Prenatal Diagnosis of a Fetus With Harlequin Ichthyosis Identifies Novel Compound Heterozygous Variants: A Case Report

open access: yesFrontiers in Genetics, 2021
BackgroundHarlequin ichthyosis (HI) is the most severe form of the keratinizing disorders, and it is characterized by whole-body hard stratum corneum. ABCA12 has been identified as the major disease-causing gene of HI.MethodsA case of HI was prenatally ...
Jiao Liu   +10 more
doaj   +1 more source

Engineered Microvascular Model of the Blood–Brain–Tumor Barrier Reveals Endothelial Remodeling in Diffuse Midline Glioma

open access: yesAdvanced Healthcare Materials, EarlyView.
We developed a patient‐derived, functional microfluidic model of the diffuse midline glioma (DMG) blood–brain–tumor barrier (BBTB) comprised of endothelial cells, astrocytes, pericytes, and tumor cells. The system forms perfusable microvasculature, reveals the BBTB retains vascular integrity, identifies DMG‐specific transcriptomic changes distinct from
Kimberly R. Bennett   +7 more
wiley   +1 more source

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