Results 11 to 20 of about 1,880 (148)

Adult Survival in SMA Type 1: A 23-Year Journey With Home Ventilation and Multidisciplinary Support. [PDF]

Clin Case Rep
Diffuse brain atrophy and calvarial hyperostosis in a long‐term survivor of very early onset SMA type 1. ABSTRACT Spinal muscular atrophy (SMA) type 1 is a severe autosomal recessive neuromuscular disorder caused by loss‐of‐function variants in the SMN1 gene, typically leading to death within the first two years without intervention. Long‐term survival
Camelo-Filho AE, Jovino RM, Tomaz BS, Nóbrega PR, Holanda MA.   +4 more
europepmc   +2 more sources

High Occurrence of a Missense Variant (c.471C>A) in the <i>FGF23</i> Gene Related to Hyperostosis-Hyperphosphatemia Syndrome With a Possible Founder Effect. [PDF]

Hum Mutat
Background: The autosomal recessive metabolic disorder hyperostosis–hyperphosphatemia syndrome (HHS) is characterized by hyperphosphatemia, hyperostosis, and recurrent bone lesions. Patients may develop ectopic and vascular calcification and may present diaphyseal pain of the long bones that is misdiagnosed as osteomyelitis.
Sedghi M, Gharehdaghi EE, Ziaee V, Abbasi F, Meybodi HRA, Smiley E, Mehdizadeh M, Raeeskarami SR, Aslani N, Shiran SN, Vafadar M, Amoli MM.   +11 more
europepmc   +2 more sources

A Japanese Case of Lenz-Majewski Syndrome With a Novel PTDSS1 Variant. [PDF]

Mol Genet Genomic Med
A Japanese girl with a de novo PTDSS1 R95Q variant showed mild sclerosing bone dysplasia. Functional and structural analyses revealed intermediate PS synthesis activity compared to previously reported variants, suggesting a broader phenotypic spectrum of LMS.
Kobari Y, Miyata N, Takayama J, Saijo N, Suzuki T, Kure S, Kikuchi A, Tamiya G, Takizawa T.   +8 more
europepmc   +2 more sources

The Concise Guide to PHARMACOLOGY 2023/24: Transporters

British Journal of Pharmacology, Volume 180, Issue S2, Page S374-S469, October 2023., 2023
The Concise Guide to PHARMACOLOGY 2023/24 is the sixth in this series of biennial publications. The Concise Guide provides concise overviews, mostly in tabular format, of the key properties of approximately 1800 drug targets, and over 6000 interactions with about 3900 ligands. There is an emphasis on selective pharmacology (where available), plus links
Stephen P. H. Alexander, Doriano Fabbro, Eamonn Kelly, Alistair A. Mathie, John A. Peters, Emma L. Veale, Jane F. Armstrong, Elena Faccenda, Simon D. Harding, 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   +27 more
wiley   +1 more source

Skeletal manifestations of disease experience: Length of illness and porous cranial lesion formation in a contemporary juvenile mortality sample

American Journal of Human Biology, Volume 35, Issue 8, August 2023., 2023
Abstract Objectives Porous lesions of the orbit (cribra orbitalia [CO]) and cranial vault (porotic hyperostosis [PH]) are used as skeletal indicators of childhood stress. Because they are understudied in contemporary populations, their relationship to disease experience is poorly understood.
Lexi O'Donnell, Jane E. Buikstra, Ethan C. Hill, Amy S. Anderson, Michael J. O'Donnell Jr   +4 more
wiley   +1 more source

Increased Bone Formation and Accelerated Bone Mass Accrual in a Man Presenting with Diffuse Osteosclerosis/High Bone Mass Phenotype and Adenocarcinoma of Unknown Primary

JBMR Plus, Volume 7, Issue 8, August 2023., 2023
Lumbar spine and femoral neck BMD showed marked increases in the 18 months prior to presentation with incidental osteosclerosis. Iliac crest biopsy reveals dense trabecular bone reflecting sclerosis at the time of presentation. ABSTRACT A 71‐year‐old man was referred for evaluation of incidental generalized osteosclerosis.
Terrence H. Diamond, Carl Bryant, Richard Quinn, Sindhu T. Mohanty, Fiona Bonar, Paul A. Baldock, Michelle M. McDonald   +6 more
wiley   +1 more source

Technical note: The use and misuse of threshold diagnostic criteria in paleopathology

American Journal of Biological Anthropology, Volume 181, Issue 2, Page 326-335, June 2023., 2023
Abstract Weighted threshold diagnostic criteria approaches have emerged for diseases that involve skeletal/bony tissue that are readily diagnosed in the field of paleopathology such as Vitamin C deficiency (scurvy), Vitamin D deficiency (rickets) and treponemal disease.
Melandri Vlok
wiley   +1 more source

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

Anemias in ancient Egyptian child mummies: Computed tomography investigations in European museums

International Journal of Osteoarchaeology, Volume 33, Issue 3, Page 532-545, May/June 2023., 2023
Abstract The aim of this study was to investigate the prevalence of anemias in ancient Egyptian child mummies. Whole‐body computed tomography (CT) examinations of 21 ancient Egyptian child mummies from European museums were evaluated for estimation of sex and age at death.
Stephanie Panzer, Karl O. Schneider, Stephanie Zesch, Wilfried Rosendahl, Randall C. Thompson, Albert R. Zink   +5 more
wiley   +1 more source