Results 141 to 150 of about 495,711 (312)

Prenatal Presentation of RMRP‐Related Skeletal Dysplasia: Clinical and Genomic Expansion

American Journal of Medical Genetics Part C: Seminars in Medical Genetics, EarlyView.
ABSTRACT The RNA subunit of the mitochondrial RNA processing endoribonuclease complex is encoded by RMRP. Biallelic variants in RMRP are known for anauxetic dysplasia 1 (AD), cartilage‐hair hypoplasia (CHH), and metaphyseal dysplasia without hypotrichosis.
Radhakrishnan Periyasamy, Pascal Joset, H. E. Veenstra‐Knol, Nicole Corsten‐Janssen, Tuula Rinne, Irene Valenzuela, Marta Codina‐Solà, Carlota Rodó, Marjolaine Willems, Constance Wells, Renaud Touraine, Maayke de Koning, Gijs Santen, Iris Hollink, André Travessa, Alessandro Mauro Spinelli, Paolo Peruzzo, Moneef Shoukier, Roland Axt‐Fliedner, Thomas Menter, Gwendolin Manegold‐Brauer, Isabel Filges   +21 more
wiley   +1 more source

Prenatal Evaluation of RNU4‐2 Variants in Fetuses With Central Nervous System Anomalies

American Journal of Medical Genetics Part C: Seminars in Medical Genetics, EarlyView.
ABSTRACT Fetal central nervous system (CNS) anomalies are among the most common congenital malformations, yet the overall prenatal diagnostic yield of current genetic testing remains below 40%. Variants in RNU4‐2, a non‐coding gene encoding the U4 small nuclear RNA (snRNA), have recently been linked to a novel highly recurrent dominant ...
Yiyao Chen, Li Gao, Xu Han, Yunyun Cao, Lanlan Zhang, Yi Wu, Xinrong Zhao, Wenjing Hu, Ruiyu Ma, Renyi Hua, Niu Li, Yanlin Wang, Jian Wang, Shuyuan Li   +13 more
wiley   +1 more source

Prevalence and Risk Factors of Gestational Diabetes Mellitus in Romania: Maternal and Fetal Outcomes

Medicina
Background and Objectives: Gestational diabetes mellitus (GDM) is a prevalent condition associated with maternal and fetal complications, including preeclampsia, preterm birth, and neonatal risks. This study investigates the prevalence, risk factors, and
Ait El Haj Iman, Anca Huniadi, Mircea Sandor, Ioana Alexandra Zaha, Ioana Rotar, Cristian Iuhas   +5 more
doaj   +1 more source

Diabetes mellitus in pregnancy : a clinical and public health problem [PDF]

Diabetes is the most frequently encountered endocrine disorder in pregnancy and is associated with adverse outcomes. Despite the urgent need for interventions to improve the outcomes for pregnancies complicated with diabetes, and the consistent ...
Wahabi, Haifa A. A.
core  

Histological analysis of the spatio‐temporal development of porcine knee cartilage in embryonic and early postnatal stages

Animal Models and Experimental Medicine, EarlyView.
This study dynamically charts the developmental process of the knee joint cartilage from the embryonic stage through to postnatal life, revealing key developmental events including the origin of knee joint development, chondrification, primary ossification, secondary ossification, formation of the cartilage cancal, and formation of the growth plate. It
Yan Nie, Kai Wang, Xuewen Wang, Jinzhu Jing, Zhen Liang, Guoqiang Yan, Wen Feng Guo, Meng Zhang, Wei Zhang, Lei Xiang   +9 more
wiley   +1 more source

THE NEONATAL OUTCOME IN INFANT BORN TO GESTATIONAL AND PRE-GESTATIONAL DIABETIC MOTHERS

The Iraqi Journal of Medical Sciences, 2017
Background: Diabetes is the 2nd commonest medical complication of pregnancy after hypertension. Infants of diabetic mothers are those infants born to a mother who suffers from diabetes mellitus, but the term refers especially to infants born to a mother ...
Duha E. Kadhum, Sawsan S. Abbas, Deia K. Khalaf   +2 more
doaj  

Potential Impact of Revising the Diagnostic Criteria for Gestational Diabetes on Maternal Pregnancy and Infant Perinatal Outcomes

Journal of Diabetes
Aims The revised diagnostic criteria for gestational diabetes (GDM) in New Zealand include lowering the fasting glucose from the current ≥ 5.5 to ≥ 5.3 mmol/L and replacing the current 2‐h post‐load glucose (≥ 9.0 mmol/L) with a 1‐h glucose (≥ 10.6 mmol ...
Qiliang Liu, Jane E. Harding, Greg D. Gamble, Carl Eagleton, Lisa Dawes, Caroline A. Crowther   +5 more
doaj   +1 more source

Expanded characterization of the valproic acid zebrafish larval model of autism spectrum disorder: Insights into dysregulation in the gut

Animal Models and Experimental Medicine, EarlyView.
Meticulous calculation of zebrafish‐equivalent therapeutic valproic acid (VPA) dosage maximized the translational value of the data. Hyposerotonergic tone underpinned an anxiety‐like outcome as a core symptom of autism spectrum disorder (ASD). Compartment‐specific dopaminergic and serotonergic dysregulation in the brain versus gut provided mechanistic ...
Lesha Pretorius, Johanna Adriana Coetzee, Alexio Pedro dos Santos, Carine Smith   +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

New techniques for old bones: Morphometric and diffeomorphometric analysis of the bony labyrinth of the Reilingen and Ehringsdorf Neandertals

The Anatomical Record, EarlyView.
Abstract Neandertals are known to possess very distinctive traits in their bony labyrinth morphology, such as an inferiorly positioned posterior canal and a very low number of turns in the cochlea. Hence, the inner ear has been often used to assess the Neandertal status of fragmentary fossils.
Alessandro Urciuoli, Julia Diez‐Valero, Ignacio Martínez, Rolf Quam, Brian A. Keeling, Nicole M. Webb, Mercedes Conde‐Valverde   +6 more
wiley   +1 more source