Results 121 to 130 of about 1,296,296 (311)

Optimized Cas9‐Enriched Nanopore Sequencing and Analysis Workflow for Clinical Diagnosis of Repeat Expansion Disorders

open access: yesAdvanced Science, EarlyView.
An optimized Cas9‐enriched nanopore sequencing workflow, combined with STRiker, enables simultaneous analysis of disease‐associated STR loci from patient blood. The nCATS–STRiker workflow detects repeat expansions, de novo repeat motifs, interruption patterns, and methylation in a single assay, improving the genetic diagnosis of previously undiagnosed ...
Seungbok Lee   +11 more
wiley   +1 more source

Maternal mortality: data linkage methodology [PDF]

open access: yes, 2014
The report presents a data linkage methodology to ascertain the number of maternal and late maternal deaths in Australia. It is one of several components of the National Maternity Data Development Project and is a companion report to the publication ...

core  

An Injectable ROS‐Responsive Nanozyme Hydrogel Regulates the Uterine Microenvironment to Prevent Intrauterine Adhesions

open access: yesAdvanced Science, EarlyView.
The injectable CeTA@GPP hydrogel is administered via intrauterine injection, forming a protective barrier. In the high ROS inflammatory microenvironment of injured endometrium, boronate ester cleavage triggers responsive CeTA release and local enrichment.
Peixian Cheng   +8 more
wiley   +1 more source

Congenital Umbilical Cord Hernia: Prenatal and Postnatal Management

open access: yesAmerican Journal of Perinatology Reports
Congenital umbilical cord hernia is often misdiagnosed and easily confused with a small omphalocele. It is different from postnatally diagnosed umbilical hernias and is believed to arise from persistent physiological mid-gut herniation.
Stephanie Rodriguez   +3 more
doaj   +1 more source

TECTB Variants Reveal Tectorial Membrane Vulnerability in Dominant Non‐Syndromic Hearing Loss

open access: yesAdvanced Science, EarlyView.
TECTB is a non‐collagenous protein of the tectorial membrane – an extracellular matrix of the cochlea. This study identifies dominant missense variants in TECTB linked to human hereditary deafness in two unrelated families. Genetically engineered mice homozygous for one of the variants are profoundly deaf, whereas heterozygous mice have normal hearing ...
Evan B. Hale   +23 more
wiley   +1 more source

Factors Affecting Maternal Birth Preparedness: Evidence from Salatiga, Cental Java [PDF]

open access: yes, 2019
Background: Maternal unpreparedness in facing childbirth is one of the factors causing the high maternal mortality rate (AKI). To support efforts to accelerate the reduction of MMR, preparation of childbirth is an important matter that must be improved ...
Yuliana, Ana   +2 more
core  

NSUN2‐Mediated m5C Modification of TGFB1 in Trophoblasts Remodels Macrophage Function to Prevent URSA

open access: yesAdvanced Science, EarlyView.
NSUN2 and m5C decline in URSA villous tissues. Trophoblast Nsun2 ablation disrupts macrophage‐mediated maternal‐fetal tolerance and triggers embryo resorption. Mechanistically, NSUN2‐YBX1 axis stabilizes m5C‐modified TGFB1 mRNA to maintain TGF‐β1 secretion and M2 polarization, and restoring this signaling rescues maternal‐fetal immune tolerance to ...
Xiaoxiao Zhu   +10 more
wiley   +1 more source

MANAGEMENT AND OUTCOME OF DIABETIC PREGNANCY

open access: yesJournal of University Medical & Dental College, 2020
Objectives: To observe the effects of management of diabetes on pregnancy outcome in terms of maternal morbidity, immediate neonatal morbidity and mortality. Study design: It was a descriptive study.
Dr. Mubashra Naz
doaj  

Health Impact Assessment of Covid-19 Towards Maternal Health Care in West Jakarta

open access: yes, 2021
Background: The Large-Scale Social Restrict­ion Policy (PSBB) was implemented in DKI Jakarta to reduce the spread of COVID-19 due to its highest ranked case in Indonesia.
Sabarinah, Sabarinah   +2 more
core  

TH/TRs–COL11A2 Axis Mediates Loss of a Differentiated Astrocyte State in Hypogyrified Brains

open access: yesAdvanced Science, EarlyView.
Using a gyrencephalic congenital hypothyroidism pig model, this study reveals cerebral atrophy and cortical hypogyrification. Single‐cell sequencing identifies astrocytes as major TH‐responsive cells, with the COL11A2‐enriched Astro‐2 state nearly absent.
Ying Zhang   +14 more
wiley   +1 more source

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