Results 301 to 310 of about 120,291 (395)

Human hypoxia models in aerospace medicine: Potential applications for human pharmacological research

British Journal of Clinical Pharmacology, EarlyView.
Aerospace medicine required controlled terrestrial models to investigate influences of altered atmosphere conditions, such as hypoxia, on human health and performance. These models could potentially be expanded to encompass disease conditions or treatment targets regulated through hypoxia or hypercapnia.
Titiaan E. Post, Cayla Denney, Adam Cohen, Jens Jordan, Ulrich Limper   +4 more
wiley   +1 more source

Mapping VEXAS‐associated and rare UBA1 variants in the United Kingdom: Insights from patient cohorts and the general population

British Journal of Haematology, EarlyView.
VEXAS syndrome is a late‐onset inflammatory disorder with rheumatological and haematological features. Epidemiological studies of VEXAS syndrome so far have been limited. Analysis of various UK cohorts estimates the incidence of VEXAS to be 1.51/100 000, or 171 new cases in the population of men over the age of 50 who are being investigated for myeloid
Ana Martinez Rodriguez, Leon Chang, Dorota Rowczenio, Alexandra Smith, Ebun Omoyinmi, James A. Poulter, Andrew McGregor, Sebastian Francis, Roochi Trikha, Adam Al‐Hakim, Kar Lok Kong, David G. Kent, Helen Lachmann, Austin Kulasekararaj, Catherine Cargo, Sinisa Savic   +15 more
wiley   +1 more source

Summary of Research: Fertility Outcomes in Risdiplam-Treated Male Patients with Spinal Muscular Atrophy: A Multicenter Case Series. [PDF]

Neurol Ther
Coskery S, Erdler M, Frey MR, Lopez MA.
europepmc   +1 more source

Confronting medical grifting: Fraudulent and unproven products and interventions in apheresis, transfusion and biotherapies

British Journal of Haematology, EarlyView.
A basic overview of medical grifting for haematologists with practical guidance in identification and tips for management. Summary Medical scams or grifting has long been a societal issue, though in recent years, the problem has become increasingly mainstream, especially as it relates to transfusion medicine, apheresis and biotherapies.
Brian D. Adkins, Sheharyar Raza, Victoria Costa, Elizabeth S. Allen, Laura D. Stephens, Jennifer S. Woo, Garrett S. Booth, Jeremy W. Jacobs   +7 more
wiley   +1 more source

The Effect of Aerobic Exercise Training on Patients with Type III Spinal Muscular Atrophy. [PDF]

J Clin Med
Mergen Kilic S, Mutluay F, Cakar A, Giris M, Durmus H, Bingul I, Gedikbasi A, Kucukgergin C, Uyguner ZO, Parman Y.   +9 more
europepmc   +1 more source

High Concordance of Copy Number Variants Detected by Chromosomal Microarray and Exome Sequencing in Clinical Diagnostics

Clinical Genetics, EarlyView.
To assess the relevance of exome sequencing as a first‐tier diagnostic tool, three aspects were investigated: detection of copy number variants (CNVs) from exomes as compared to chromosomal microarray, clinically‐relevant CNVs across all sizes, and additional diagnostic utilities (uniparental disomy and triploidy).
Rivka Birnbaum, Maya Slovik, Shamir Zenvirt, Ilana Livyatan, Israel Altman, Shiri Gershon, Jonathan Rips, Hagit Daum, Chaggai Rosenbluh, Orly Elpeleg, Vardiella Meiner, Ayala Frumkin, Hagar Mor‐Shaked, Tamar Harel   +13 more
wiley   +1 more source

Cerebellar defects are a primary pathology in mouse models of spinal muscular atrophy. [PDF]

Brain Pathol
Cottam NC, Dowling M, Kong L, Chan-Cortés MH, Charvet CJ, Norzeron N, Grover C, Harrington MA, Sumner CJ, Sun J.   +9 more
europepmc   +1 more source

Mitochondrial DNA Depletion Syndrome 1 (MTDPS1)—A Novel Cause of Premature Ovarian Insufficiency

Clinical Genetics, EarlyView.
We describe a woman with MNGIE due to a novel homozygous TYMP nonsense variant and propose MNGIE as the cause of her premature ovarian insufficiency—a rarely reported association—highlighting the need to consider mitochondrial disease in unexplained POI, especially in atypical, consanguineous presentations. ABSTRACT Mitochondrial DNA depletion syndrome
Michael Matheou, Helen Turner, Deborah Shears, Fredrik Karpe   +3 more
wiley   +1 more source

Administration of Onasemnogene Abeparvovec in an Infant With Spinal Muscular Atrophy and PCR-Confirmed SARS-CoV-2 Infection. [PDF]

Cureus
Shimomura I, Maruyama S, Kodama Y, Matsunaga M, Okamoto Y.   +4 more
europepmc   +1 more source

Expanding the Genotype and Phenotype Diversity in a Chinese Cohort With TRPV4‐Related Dysplasia

Clinical Genetics, EarlyView.
Exploring the genotype and phenotype diversity in a Chinese cohort with TRPV4‐related dysplasia. ABSTRACT Dominant mutations in the calcium permeable ion channel TRPV4 (transient receptor potential vanilloid 4) typically result in skeletal dysplasia or peripheral neuromuscular disease.
Lina Dong, Kwan Chun Ho, Zhijia Tan, Yanni He, Yapeng Zhou, Shijie Yin, Lin Feng, Janus Siu Him Wong, Michael Kai Tsun To   +8 more
wiley   +1 more source