Results 201 to 210 of about 288,448 (309)

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

Management of Invasive Bronchopulmonary Mucormycosis with Low-Dose Antifungal Therapy and Left Lower Lobectomy in a Patient with Renal Insufficiency. [PDF]

Infect Drug Resist
Zhu C, Gu Y, Zhu Q, Liu X, Jiang T.
europepmc   +1 more source

Influence af acute iodine incorporation on thyroid function and thyroidal iodine content [PDF]

, 1981
Habermann, J., Leisner, B., Pickardt, C. R., Scriba, Peter Christian, Witte, A.   +4 more
core   +1 more source

Expanding the Phenotype of TUFM‐Related Combined Oxidative Phosphorylation Deficiency 4

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Combined oxidative phosphorylation deficiency 4 (COXPD4) is a rare mitochondrial condition caused by biallelic deleterious variants in the nuclear‐encoded gene TUFM. To date, most individuals with COXPD4 have presented with encephalopathy, hypotonia, and abnormal brain imaging. Many of the reported individuals died in infancy. We aim to expand
Noémie Villeneuve‐Cloutier, Jodi Warman‐Chardon, Danielle K. Bourque   +2 more
wiley   +1 more source

Histological Analysis of Arterial and Venous Grafts Used in Coronary Bypass for Patients With Renal Insufficiency: A Prospective Multicentre Observational Study. [PDF]

Interdiscip Cardiovasc Thorac Surg
Grazioli V, Di Mauro M, Gerometta P, Parrella B, Matteucci M, Musazzi A, Rinaldi M, Sannito M, Panisi P, Agnino A, Sweidan EBI, Guareschi D, Gaudino M, Corradi D, Lorusso R.   +14 more
europepmc   +1 more source

Spectrum of Congenital Anomalies in Myhre Syndrome—Insights Into Effects Brought by Altered TGF‐β Signaling via Gain‐of‐Function Variants in SMAD4

American Journal of Medical Genetics Part C: Seminars in Medical Genetics, EarlyView.
ABSTRACT Myhre syndrome is a rare genetic disorder characterized by progressive multisystem involvement. Gain‐of‐function missense heterozygous variants affecting the Ile500 residue and Arg496 residue of the SMAD4 gene are implicated in this condition.
Kawmadi Gunawardena, Alessandro De Falco, Deborah Osio, Eleanor Sherlock, Emma Kivuva, Erina Sasaki, Francis H. Sansbury, Nayana Lahiri, Patricia Foley, Sahar Mansour, Shane McKee, Tazeen Ashraf, Nicola Brunetti‐Pierri, Usha Kini   +13 more
wiley   +1 more source

2013 Literature Update in Hospital Medicine [PDF]

, 2014
Boonyasai, Romsai Tony, Carbo, Alexander R, Feldman, Leonard S, Sharpe, Bradley A, Southern, William   +4 more
core   +1 more source

Cancer therapy‐induced ototoxicity: Current challenges and emerging management strategies

Animal Models and Experimental Medicine, EarlyView.
This review comprehensively examines the key risk factors for cancer therapy‐induced ototoxicity, including cumulative drug dose, genetic susceptibility, and combined treatment regimens. It highlights current challenges in ototoxicity monitoring, such as insufficient timeliness and limited clinical adoption, and advocates for standardized auditory ...
Yuqi Huang, Baoying Xu, Xinru Chen, Yu Chen, Dehong Yu   +4 more
wiley   +1 more source

Deoxycholic Acid and Cognitive Impairment and Decline in the Chronic Renal Insufficiency Cohort (CRIC). [PDF]

Kidney Med
Mortaji P, Cai X, Oh E, Frazier R, Srivastava A, Fischer M, Ricardo A, He J, Mills K, Wolfrum K, Anderson A, Feldman HI, Miyazaki M, Chonchol M, Tamura MK, Nowak K, Isakova T, Jovanovich A, CRIC Study Investigators.   +18 more
europepmc   +1 more source

Changes in renal function after liver transplantation under FK 506 [PDF]

, 1991
Deballi, P, Fung, JJ, Jain, A, McCauley, J, Starzl, TE, Todo, S   +5 more
core