Results 131 to 140 of about 56,492 (266)
Cancer Risk in Marfan Syndrome: A Swedish Population‐Based Cohort Study
The cancer risk in Marfan syndrome, an autosomal dominant connective tissue disorder, largely remains to be explored. In this population‐based matched cohort study of 1544 Swedish patients, the overall cancer risk in adults with Marfan syndrome showed no significant increase, except for the risk of endocrine tumours with a nearly threefold increase ...
Ida Nordgren +8 more
wiley +1 more source
Vitamin-D status in sixty adolescents with idiopathic scoliosis: An observational study. [PDF]
Wang X, Ji L, Wang X, Zhou J.
europepmc +1 more source
35 Individuals With HUWE1‐Related Neurodevelopmental Disorder and Suggested Clinical Evaluations
ABSTRACT HUWE1 (HECT, UBA, and WWE Domain Containing E3 Ubiquitin Protein Ligase1, OMIM 300697), located at Xp11.22, encodes a ubiquitin ligase that is highly conserved across species. Genetic variants in HUWE1 described in multiple independent studies cause X‐linked intellectual disability, including in the patients identified by Juberg, Marsidi, and ...
Mindy H. Li +25 more
wiley +1 more source
Percutaneous Endoscopic Lumbar Discectomy Serves as a Valuable Minimally Invasive Surgical Option for Adolescent Lumbar Disc Herniation: Mid-Term Outcomes from a Retrospective Cohort Study. [PDF]
Zhang B +9 more
europepmc +1 more source
ABSTRACT Heterozygous variants in the AHDC1 gene are associated with Xia Gibbs Syndrome (XGS), a genetic disorder with a highly variable phenotype. Cognitive impairment, motor delay, language delay, neonatal hypotonia, and sleep apnea are considered “cardinal” signs of the disease.
Giulia Cinelli +18 more
wiley +1 more source
THE ETIOLOGY OF SCOLIOSIS [PDF]
openaire +2 more sources
Endocrine-informed monitoring of scoliosis in Prader-Willi syndrome: integrating neuroendocrine pathophysiology, growth hormone therapy, and pubertal transition. [PDF]
Zhu M +7 more
europepmc +1 more source
ABSTRACT Background Tarsal tunnel syndrome (TTS) is a relatively uncommon compressive neuropathy of the posterior tibial nerve that is often underdiagnosed due to variable presentation and overlap with other conditions. As patients increasingly turn to YouTube for health information, concerns have arisen about the reliability and comprehensibility of ...
Ryan H. Nishi +9 more
wiley +1 more source

