Results 81 to 90 of about 72,689 (257)

Histidine Supplementation Stabilizes Hearing and Vision and Improves Growth in HARS1‐Related Autosomal Recessive Disorder Associated With Usher‐Like Symptoms

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Autosomal recessive HARS1‐related disorder (originally described as Usher syndrome type 3B) caused by a homozygous Y454S variant in the histidyl‐tRNA synthetase gene (HARS1) is characterized by progressive sensorineural hearing and vision loss and respiratory deterioration with risk for sudden death following febrile illnesses.
Victoria Mok Siu, Rosan Kenana, Rana Chakrabarti, Sarah D. P. Wilhelm, Joseph Andrews, Susan J. Leat, Christina Parker, Michael Miller, Leslie A. Nangle, Wendy McCaul, Ashfia Chowdhury, Natalie Hutchings, Ryan A. Adams, Lauren Guy, Mandy Rhody, Verena Juncal, Marisa I. Mendes, Desiree E. C. Smith, Gajja S. Salomons, Angelica A. Moresco, Daphne L. McCulloch, D. Holmes Morton, Ilka U. Heinemann, C. Anthony Rupar   +23 more
wiley   +1 more source

Systematic Cardiac Phenotyping of Patients With Copy Number Variants in the 15q11.2 Breakpoint 1 to Breakpoint 2 Region: A Retrospective Cohort Study From Nine Pediatric Cardiac Centers

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Microdeletions impacting 15q11.2 breakpoint (BP) 1 to BP2, adjacent to the Prader–Willi critical region, have previously described neuropsychiatric associations, with potential low penetrance presentations of congenital heart disease (CHD) also identified.
Morgan B. Wright, Maria B. Padua, Lindsey R. Helvaty, Kim L. McBride, Gabrielle Geddes, Vidu Garg, Seema R. Lalani, Stephanie Burns Wechsler, Jennelle C. Hodge, Benjamin J. Landis, Stephanie M. Ware   +10 more
wiley   +1 more source

Integrating fetal pulmonary artery doppler with 2D lung volumetry to predict neonatal respiratory distress

The Egyptian Journal of Radiology and Nuclear Medicine
Objectives This study aims to evaluate fetal lung development through volumetric measurements and Doppler assessments of the main pulmonary artery, thereby correlating these findings with neonatal respiratory distress and Apgar score.
Marwa Elsayed Abdelrahman Ibrahim, Mohamed Adel Rezk, Hossam El-Khouli, Ahmed Shaaban Owais   +3 more
doaj   +1 more source

Delayed Recognition of Maternal G6PD Heterozygous Status Across Prenatal and Newborn Care Interfaces

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Glucose‐6‐phosphate dehydrogenase (G6PD) deficiency is the most common red blood cell enzymatic disorder worldwide. Although many heterozygotes are asymptomatic, affected neonates have an increased risk for hyperbilirubinemia and related complications.
Mona M. Makhamreh, Ramiah R. Vickers, Cheryl Mensah, Wanda Dosal, Jennifer R. McKinney, April D. Adams   +5 more
wiley   +1 more source

Retracted: Fetal Heart Rate Extraction Based on Wavelet Transform to Prevent Fetal Distress In Utero. [PDF]

J Healthc Eng, 2023
Healthcare Engineering JO.
europepmc   +1 more source

SDPR–STK38 axis controls the proliferation–differentiation balance in alveolar type II cells

Animal Models and Experimental Medicine, EarlyView.
The present study identifies SDPR as a pivotal regulator orchestrating the balance between proliferation and differentiation in alveolar type II (AT2) cells. In SDPR+/+ cells, SDPR binds to and inhibits STK38 activity, thereby sustaining GSK‐3β signaling functionality to promote cyclin D1 degradation and maintain cell cycle homeostasis.
Jie Wang, Xuepei Lei, Yiying Huang, Jiaming Tang, Guiying Shi, Hang Li, Lin Bai   +6 more
wiley   +1 more source

Retracted: Clinical Significance and Correlation Decomposition of Cord Blood NO, Activin A Levels, and MCA/UA with Fetal Distress. [PDF]

Contrast Media Mol Imaging, 2023
Imaging CMM.
europepmc   +1 more source

Adipose‐derived mesenchymal stem cell injection into the KI10 acupoint mitigates cartilage damage in KOA rats through PGE2‐mediated α7nAChR/NF‐κB pathway

Animal Models and Experimental Medicine, EarlyView.
In our research, KOA rat models were established and treated with ADSC injection into the KI10 acupoint. Pain relief, behavioral function, and joint structural improvements were systematically assessed using ethological tests, imaging, histopathological staining, transmission electron microscopy, and molecular analyses.
Mengwei Dong, Wenfang Li, Wanpeng Yang, Te Ba, Nan Nan, Yang Liu, Jing Han, Huiqin Hao   +7 more
wiley   +1 more source

Single umbilical artery aneurysm: a rare case report and review of perinatal management

Journal of Cardiothoracic Surgery
Background Single umbilical artery aneurysms (SUAA) are extremely rare vascular malformations. Most of the times aneurisms are located in the cors insertion on the placenta, and are associated with increased perinatal morbidity, including fetal growth ...
Qiong Liu, Yinglan Quan, Yaping Tao, Changmei Kou, Sisi Nie, Guihua Cui, Ning Li   +6 more
doaj   +1 more source

The mechanism of labor in nonhuman primates: A look inside

The Anatomical Record, EarlyView.
Abstract While in humans, the flexed position of the fetus and its rotating course down the birth canal are well documented, in other primates the mechanism of labor is unknown. Despite the lack of comparative data, it is commonly assumed that the human obstetric mechanism is unique, and anthropologists have disputed when and why the transition to the ...
Melissa K. Stoller
wiley   +1 more source