Results 111 to 120 of about 406,691 (285)

Skeletal Dysplasia [PDF]

Archives of Disease in Childhood, 1983
openaire   +2 more sources

From Isolated to Complex: Diagnostic Yield of Chromosomal Microarray and Exome Sequencing in Fetal Growth Restriction

Prenatal Diagnosis, EarlyView.
ABSTRACT Objective To characterize the overall diagnostic yield of sequential chromosomal microarray (CMA) and exome sequencing (ES) across the phenotypic spectrum of fetal growth restriction (FGR). Methods A retrospective cohort of 320 consecutive FGR pregnancies presenting at ≥ 20 weeks to a tertiary fetal medicine unit (2020–2025).
Hadas Miremberg, May Shabat, Maya Stok, Vered Offer Glasner, Adi Botvinik, Mordechai Shohat, Michal Levy, Yuval Yaron, Roee Birnbaum, Sharon Perlman, Gustavo Malinger, Karina Krajden Haratz   +11 more
wiley   +1 more source

Integrated Molecular Autopsy in a Highly Consanguineous Perinatal Cohort With Severe Malformations and Strong Genetic Susceptibility

Prenatal Diagnosis, EarlyView.
ABSTRACT Objective To evaluate the diagnostic yield of integrated molecular autopsy (IMA) by combining deep post‐mortem phenotyping with exome (ES) and targeted genome sequencing (GS) for prenatally detected anomalies. Method This retrospective study evaluated 28 perinatal cases (22 fetuses, six neonates) with severe anomalies, normal first‐tier ...
Sihem Darouich, Samia Darouich, Ahmed Khemiri, Dorsaf Gtari, Raoudha Smiti, Ahmed Nhili, Houda Bellamine   +6 more
wiley   +1 more source

Natural Polysaccharides for Rheumatoid Arthritis Therapy: Mechanism, Drug Delivery and Clinical Application

Phytotherapy Research, EarlyView.
Schematic overview of the experimental models, therapeutic mechanisms, drug delivery systems, and clinical potential of natural polysaccharides in rheumatoid arthritis. ABSTRACT Rheumatoid arthritis (RA) is a systemic autoimmune disease characterized primarily by chronic synovitis.
Luxin Li, Junnan Li, Guangzhi Li, Lili Huang, Tiantian Wen, Yanying Li, Yan Sun, Zhenqiang Liu, Qingshan Chen, Lili Zhang, Tiangang Lu, Ruiyan Wu, Haixue Kuang, Xiaochi Ma, Yan Liu   +14 more
wiley   +1 more source

Linear Cutaneous and Craniofacial Anomalies in a Female Infant

JEADV Clinical Practice, EarlyView.
Kim H. Tran, Kimia Ameri, Joseph M. Lam
wiley   +1 more source

Embryotoxic Effects of Monosodium Methyl Arsenate (MSMA) on Gallus gallus: Morphological and Morphometric Evidence of Developmental Disruptions

Environmental Toxicology, EarlyView.
ABSTRACT Anthropogenic activities and the large volume of compounds released into the environment are sources of contamination for plants, animals, and humans. The herbicide monosodium methyl arsenate (MSMA) ranks among the best‐selling agricultural pesticides in Brazil.
Daniel Moreira Melo, Eduarda Scalfoni Tavares, Melyssa Kmecick, Juliana Castro Monteiro Pirovani   +3 more
wiley   +1 more source

Advances in evaluating the fetal skeleton

International Journal of Women's Health, 2014
Ann-Edwidge Noel, Richard N BrownDivision of Maternal Fetal Medicine, Department of Obstetrics and Gynecology, McGill University, Montreal, QC, CanadaAbstract: In this review, we discuss aspects of the prenatal diagnosis of fetal skeletal malformations ...
Noel AE, Brown RN
doaj  

Disease of South American camelids in England and Wales: Analysis of diagnoses from Animal and Plant Health Agency laboratory submissions between 2012 and 2021

Veterinary Record, EarlyView.
Abstract Background South American camelids (SACs) have become increasingly popular in the UK. Consequently, knowledge among veterinary practitioners about diseases in these non‐native species has improved, although gaps remain. The remit of this study was to identify common diseases of SACs based on Animal and Plant Health Agency (APHA) surveillance ...
Sonja Jeckel, Carissa Xian Chow, David Jorge   +2 more
wiley   +1 more source

Anatomical Characteristics of the Facial Nerve in Patients With Cochlear Hypoplasia

World Journal of Otorhinolaryngology - Head and Neck Surgery, EarlyView.
ABSTRACT Objective To quantitatively characterize the spatial relationships between intratemporal facial nerve segments and key cochlear implantation (CI) landmarks in cochlear hypoplasia (CH), and to compare these features with age‐matched CI recipients with normal inner ear anatomy, thereby informing preoperative planning and facial nerve ...
Shu‐Jin Xue, Xing‐Mei Wei, Biao Chen, Ying Kong, Yong‐Xin Li   +4 more
wiley   +1 more source

Diffuse cranial vault hyperostosis associated with long‐term antiepileptic therapy: Autopsy findings and differential diagnostic considerations

Journal of Forensic Sciences, EarlyView.
Abstract Diffuse cranial vault hyperostosis is an uncommon finding and may present a diagnostic challenge in clinical and forensic practice. We report the case of a 53‐year‐old woman with a long‐standing history of epilepsy treated with phenytoin and sodium valproate who collapsed at home suddenly and died despite resuscitative efforts.
Maria Piagkou, Athina Tousia, George Triantafyllou, Dimitrios Vlachodimitropoulos, Samer Al Besher, Panagiotis Manolarakis‐Papadopoulos, Alexandros Samolis, Stavroula Papadodima   +7 more
wiley   +1 more source