Results 81 to 90 of about 118,615 (217)

Postpartum Dönemdeki Kadınların Depresyon ve Yorgunluk Düzeylerinin İncelenmesi

Sağlık Bilimleri Üniversitesi Hemşirelik Dergisi, 2020
Giriş: Postpartum dönem; başta fiziksel ve emosyonel olmak üzere birçok değişimin yaşandığı ilk bir yıllık süreyi kapsar. Kadınlar bu dönemde karşılaştıkları zorluklarla baş etmede güçlük çekebilir.
F. Deniz Sayıner, Alaattin Ünsal, Remziye Can, Ünal Ayrancı   +3 more
doaj  

Assessment of Growth in Cardio‐Facio‐Cutaneous Syndrome

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Cardio‐facio‐cutaneous (CFC) syndrome is a rare, multiple congenital anomaly disorder in which individuals commonly experience faltering growth; however, systematic analysis of growth parameters in this disorder has not been performed. We recruited 69 participants with CFC through CFC International and collected data on assessing height ...
Kari Johnston, Sandesh C. S. Nagamani, Bradley S. Miller, Katherine A. Rauen, Richard D. Boyce, Salma Musaad, Pilar L. Magoulas   +6 more
wiley   +1 more source

A Rare Form of Microcephalic Primordial Dwarfism due to NSMCE2 Deficiency (Seckel Syndrome Type 10): A Report of Macular Involvement

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Biallelic variants in NSMCE2 (MMS21), which encodes the SUMO E3 ligase subunit of the SMC5/6 chromatin‐maintenance complex, have recently been implicated in microcephalic primordial dwarfism (MPD), corresponding to Seckel syndrome type 10 (OMIM #617246).
Cristina Peduto, Céline Huber, Clément Paya, Isabelle Audo, Nathalie Boddaert, Valérie Cormier‐Daire   +5 more
wiley   +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

A Novel Constitutional TUBB Variant Associated With Familial Malformations of Cortical Development

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Most pathogenic tubulin variants arise de novo in sporadic patients, causing severe brain malformations and significant neurodevelopmental impairment. The resulting reproductive disadvantage typically prevents these mutations from being transmitted to offspring.
Elena Cellini, Davide Mei, Mara Cavallin, Simona Fiori, Luciana Tramacere, Maria Elena Melica, Giulia Antonelli, Simona Virdò, Elena Parrini, Renzo Guerrini   +9 more
wiley   +1 more source

L‐Cysteine and N‐Acetylcysteine Supplementation Improves Clinical Outcome in a Patient With COXPD10

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT MTO1 is a nuclear gene that encodes a mitochondrial protein essential for modifying mitochondrial transfer RNAs (tRNAs) and stabilizing codon‐anticodon interactions to ensure accurate and efficient mitochondrial protein synthesis and oxidative phosphorylation.
Nishitha R. Pillai, Sara A. Elsbecker, Grace Bronken McCarthy, Kaitlin Weisshappel, Peter Karachunski, Fernando Scaglia   +5 more
wiley   +1 more source

Aortic valve disease: Novel animal models for advancing our understanding of the underlying mechanisms

Animal Models and Experimental Medicine, EarlyView.
Due to the complex pathophysiology of aortic valve disease (AVD) and the resulting lack of effective pharmacotherapy, existing animal models are valuable research tools, but each has its own strengths and limitations. This review systematically surveys the major AVD models, compares their induction methods, pathological features, advantages and ...
Liya Hou, Xue Liu, Wangxing Hu, Xianbao Liu, Wei Zhu   +4 more
wiley   +1 more source

Biomimetic Nanofiber Scaffold Coated With Acellular Matrices for Uterine Myometrial Tissue Engineering

Advanced NanoBiomed Research, EarlyView.
Schematic representation of acellular matrix generation from human uterine fibroblast cells, coating on polycaprolactone electrospun nanofibers, and subsequent in vitro and in vivo characterization. A tissue‐engineered scaffold tailored for uterine myometrium‐specific regeneration is designed. The electrospinning technique was used to fabricate aligned
Srividya Hanuman, Shripad S. Hebbar, Rishikesh Balvalli, Manasa Nune   +3 more
wiley   +1 more source

Ontogeny of murine bony semicircular canal form

The Anatomical Record, EarlyView.
Abstract The labyrinthine geometry and functional anatomy of the semicircular canals have intrigued scientists for decades, and there has been considerable interest in understanding how these complex structures grow and develop with evidence emerging from human studies that size maturation occurs exceptionally early by comparison with other systems ...
Marcela Cárdenas‐Serna, Nathan Jeffery   +1 more
wiley   +1 more source

Gonadal development in scorpion mud‐turtles, Kinosternon scorpioides, in a controlled environment

The Anatomical Record, EarlyView.
Stage 20 was identified as the critical point for gonadal differentiation in Kinosternon scorpioides, providing key insights into sex determination. These findings enhance conservation strategies by supporting reproductive management and population viability in both in situ and ex situ programs. Abstract Research on gonadal development including sexual
Brenda Braga, Verônica Oliveira‐Bahia, Maria Auxiliadora Ferreira, José Ribamar Felipe Marques, Diva Araújo Guimarães   +4 more
wiley   +1 more source