Results 21 to 30 of about 1,017 (103)

Nosology of genetic skeletal disorders: 2023 revision

American Journal of Medical Genetics Part A, Volume 191, Issue 5, Page 1164-1209, May 2023., 2023
Abstract The “Nosology of genetic skeletal disorders” has undergone its 11th revision and now contains 771 entries associated with 552 genes reflecting advances in molecular delineation of new disorders thanks to advances in DNA sequencing technology.
Sheila Unger, Carlos R. Ferreira, Geert R. Mortier, Houda Ali, Débora R. Bertola, Alistair Calder, Daniel H. Cohn, Valerie Cormier‐Daire, Katta M. Girisha, Christine Hall, Deborah Krakow, Outi Makitie, Stefan Mundlos, Gen Nishimura, Stephen P. Robertson, Ravi Savarirayan, David Sillence, Marleen Simon, V. Reid Sutton, Matthew L. Warman, Andrea Superti‐Furga   +20 more
wiley   +1 more source

Al‐Gazali Skeletal Dysplasia Constitutes the Lethal End of ADAMTSL2‐Related Disorders

Journal of Bone and Mineral Research, Volume 38, Issue 5, Page 692-706, May 2023., 2023
ABSTRACT Lethal short‐limb skeletal dysplasia Al‐Gazali type (OMIM %601356), also called dysplastic cortical hyperostosis, Al‐Gazali type, is an ultra‐rare disorder previously reported in only three unrelated individuals. The genetic etiology for Al‐Gazali skeletal dysplasia has up until now been unknown.
Dominyka Batkovskyte, Fiona McKenzie, Fulya Taylan, Pelin Ozlem Simsek‐Kiper, Sarah M Nikkel, Hirofumi Ohashi, Roger E Stevenson, Thuong Ha, Denise P Cavalcanti, Hiroyuki Miyahara, Steven A Skinner, Miguel A Aguirre, Zühal Akçören, Gulen Eda Utine, Tillie Chiu, Kenji Shimizu, Anna Hammarsjö, Koray Boduroglu, Hannah W Moore, Raymond J Louie, Peer Arts, Allie N Merrihew, Milena Babic, Matilda R Jackson, Nikos Papadogiannakis, Anna Lindstrand, Ann Nordgren, Christopher P Barnett, Hamish S Scott, Andrei S Chagin, Gen Nishimura, Giedre Grigelioniene   +31 more
wiley   +1 more source

Warfare, Labor, and Urban Stress: Divergent Health Trajectories in Mongol‐Period Karakorum

International Journal of Osteoarchaeology, EarlyView.
ABSTRACT This study examines major palaeopathological trends in Mongol‐period Karakorum and incorporates them into the existing body of research in order to deepen our understanding of health and survival, the impacts of conflict and violence on past populations, and the lived experiences of the city's diverse inhabitants within the broader socio ...
Júlia Olive‐Busom, Susanne Reichert, Dunburee Batsukh, Jan Bemmann, Alice Toso   +4 more
wiley   +1 more source

Bilateral Supracondylar Process in a Subadult in the Late Antique Age: A Case Report

Archaeometry, EarlyView.
ABSTRACT During the excavation procedures for the railway trait Napoli‐Cancello, in the city of Afragola (Naples), several burials dating back to the Late Antique Age were found. One of them was an amphora burial (enchytrismòs) and contained the skeletal remains of a subadult individual affected by bilateral supracondylar process. Supracondylar process
Barbara Albanese, Daniele Maria Gibelli, Sergio Cascella, Cristina Cattaneo   +3 more
wiley   +1 more source

The Concise Guide to PHARMACOLOGY 2025/26: Transporters

British Journal of Pharmacology, Volume 182, Issue S1, Page S404-S496, December 2025.
The Concise Guide to Pharmacology 2025/26 marks the seventh edition in this series of biennial publications in the British Journal of Pharmacology. Presented in landscape format, the guide provides a comparative overview of the pharmacology of drug target families. The concise nature of the Concise Guide refers to the style of presentation, being clear,
Stephen P. H. Alexander, Alasdair J. Gibb, Eamonn Kelly, Alistair A. Mathie, Chloe J. Peach, Emma L. Veale, Jane F. Armstrong, Elena Faccenda, Simon D. Harding, Christopher Southan, Jamie A. Davies, Laura Amarosi, Catriona M. H. Anderson, Philip M. Beart, Stefan Broer, Paul A. Dawson, Gergely Gyimesi, Bruno Hagenbuch, James R. Hammond, Jules C. Hancox, Michal Hershfinkel, Ken‐ichi Inui, Yoshikatsu Kanai, Stephan Kemp, Edmund R. S. Kunji, Gavin Stewart, Sotiria Tavoulari, David T. Thwaites, Tiziano Verri   +28 more
wiley   +1 more source

Congenital cortical hyperostosis: a rare cause of inconsolable crying in a baby. Clinical case report

Archivos Argentinos de Pediatria
Here we describe the case of a 2-month-old infant who consulted several times due to excessive crying, initially interpreted as having a gastrointestinal cause. Since the symptom persisted, a fracture was suspected due to its association with mobilization of the limbs and palpation of a mass on the anterior aspect of the right tibia.
Ana, Braslavsky, María E, López
openaire   +2 more sources

Prenatal Diagnosis of Proteus Syndrome: About a Case

American Journal of Medical Genetics Part A, Volume 197, Issue 5, May 2025.
ABSTRACT Proteus syndrome (PS) is a rare disorder (< 1/1000000), marked by progressive overgrowth commonly impacting the skeleton, skin, adipose tissue, and central nervous system. Clinical criteria were established in 2019. PS arises from a somatic activating variation in the AKT1 gene.
Luana Giovannangeli, Virginie Magry, Florence Jobic, Kahia Messaoudi, Walaa Darwiche, Marianne Perriere, Alexis Billes, Ségolène Delmas Lanta, Alice Masurel, Gilles Morin, Guillaume Jedraszak   +10 more
wiley   +1 more source

Drug‐Related Side Effects and Contributing Risk Factors in Children With Congenital Heart Disease: A Cross‐Sectional Study

Health Science Reports, Volume 8, Issue 5, May 2025.
ABSTRACT Background and Aims Children with congenital heart disease (CHD) often require complex pharmacotherapy for symptom management and complication prevention. However, their unique physiological profiles increase vulnerability to drug‐related side effects.
Esmaeel Toni, Haleh Ayatollahi, Reza Abbaszadeh, Alireza Fotuhi Siahpirani   +3 more
wiley   +1 more source

Glycerophospholipids: Roles in Cell Trafficking and Associated Inborn Errors

Journal of Inherited Metabolic Disease, Volume 48, Issue 2, March 2025.
ABSTRACT Glycerophospholipids (GPLs) are the main lipid components of cellular membranes. They are implicated in membrane structure, vesicle trafficking, neurotransmission, and cell signalling. GPL molecules are amphiphilic, organized around the three carbons of glycerol. Positions sn‐1 and sn‐2 are each esterified to a fatty acid (FA).
Foudil Lamari, Francis Rossignol, Grant A. Mitchell   +2 more
wiley   +1 more source

Hypomineralization disorder in tropical Southeast Asia during the agricultural revolution: Analysis of morbidity and mortality

International Journal of Osteoarchaeology, Volume 34, Issue 2, March/April 2024.
Abstract This paper presents evidence for hypomineralization disorders (rickets and osteomalacia) in non‐adults at Man Bac, a Neolithic site from northern Vietnam dated to 4000–3500BP, contributing to the well‐described disease burden at the site that includes scurvy, treponemal disease, thalassemia, and malaria. Forty‐four non‐adults (<20 years of age‐
Melandri Vlok, Marc Oxenham, Clare McFadden, Kate Domett, Hiep Hoang Trinh, Tran Thi Minh, Nguyen Thi Mai Huong, Hirofumi Matsumura, Hallie Buckley   +8 more
wiley   +1 more source