Results 241 to 250 of about 493,797 (347)

Brown Tumors of Hyperparathyroidism: A 13-Year Retrospective Case Series from a Tertiary Center in South India. [PDF]

J Orthop Case Rep
Ajith John K, Puthoor DK, Davis D.
europepmc   +1 more source

m.10010T>C Mitochondrial Disease: A Case Report With Hypoparathyroidism and Review of the Literature

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Mitochondria are essential intracellular organelles that play a critical role in cellular metabolism, including the regulation of intracellular calcium signaling. Advances in genomic sequencing have facilitated the identification of rare pathogenic mitochondrial DNA (mtDNA) genetic variants in patients with unexplained endocrine disorders.
Jacob Mohr, Anja Lisbeth Frederiksen, Morten Duno, Anne Pernille Hermann, Trine Maxel Juul, Simone Rask Nielsen   +5 more
wiley   +1 more source

Description of two new species of <i>Rhaphidophora</i> and <i>Diestramima</i> (Orthoptera, Rhaphidophoridae) from China. [PDF]

Zookeys
Feng XL, Zhao ZX, Xiao J, Song XH, Huang XD, Chen HL.   +5 more
europepmc   +1 more source

Homozygous Achondroplasia With Long‐Term Survival: Growth Patterns, Medical Interventions, and Practice Implications

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Homozygous achondroplasia is widely considered perinatal lethal by the medical community. In this case series, we report two children from a single family with longer‐term survival. One child lived for 17 months and the other was 60 months at the time of publication.
Hannah Singerline, Jason Laufman, Kimberly Wallis, Michelle Merrill   +3 more
wiley   +1 more source

Analysis of the Functional Outcome of Surgically Operated Floating Knee Injury. [PDF]

Cureus
J K BK, Rakshith A, Sagar BG, J T, Nafras A A M, Gowda PL.   +5 more
europepmc   +1 more source

Novel MYL1 Intron Variant With Expanded Phenotype

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Congenital myopathy‐14 (CMYO14) is an ultrarare autosomal recessive disorder caused by biallelic variants in MYL1, with only four patients reported to date. We describe what is likely the fifth reported patient, a neonate with severe hypotonia, respiratory insufficiency, and skeletal anomalies showing distinct histological changes of skeletal ...
Maria Barington, Marie Balslev‐Harder, Thomas Krag, Thomas van Overeem Hansen, Camilla Bernt Wulff, Ulrik Lausten‐Thomsen, Tina Duelund Hjortshøj, Elsebet Østergaard   +7 more
wiley   +1 more source

Periosteal reaction of the femur following total hip arthroplasty can be a sign of periprosthetic joint infection (PJI). A case report of Staphylococcal PJI and management. [PDF]

Radiol Case Rep
Komnos GA, Akrivos VS, Mylonas T, Gkekas N, Karachalios T.   +4 more
europepmc   +1 more source

Prenatal Evaluation of RNU4‐2 Variants in Fetuses With Central Nervous System Anomalies

American Journal of Medical Genetics Part C: Seminars in Medical Genetics, EarlyView.
ABSTRACT Fetal central nervous system (CNS) anomalies are among the most common congenital malformations, yet the overall prenatal diagnostic yield of current genetic testing remains below 40%. Variants in RNU4‐2, a non‐coding gene encoding the U4 small nuclear RNA (snRNA), have recently been linked to a novel highly recurrent dominant ...
Yiyao Chen, Li Gao, Xu Han, Yunyun Cao, Lanlan Zhang, Yi Wu, Xinrong Zhao, Wenjing Hu, Ruiyu Ma, Renyi Hua, Niu Li, Yanlin Wang, Jian Wang, Shuyuan Li   +13 more
wiley   +1 more source

Body mass index, not local adiposity, best predicts surgical site infection following surgical fixation of distal femur fractures. [PDF]

Eur J Orthop Surg Traumatol
Rust BD, Pereira DE, Barton DW, Obey MR, McAndrew CM, Berkes MB, Wilson JL.   +6 more
europepmc   +1 more source