Results 161 to 170 of about 204,387 (261)

Quantifying Change in Proteinuria After Acute Kidney Injury Among Patients With Chronic Kidney Disease: Findings From the Chronic Renal Insufficiency Cohort (CRIC) Study. [PDF]

Kidney Med
Kwong YD, Liu KD, Go AS, Muiru AN, McCoy IE, Weir MR, Unruh ML, Rincon-Choles H, Hamm LL, Chen J, Hsu JY, Zhang X, Hsu CY, CRIC Study Investigators.   +13 more
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

Analysis of risk factors for poor prognosis in patients with renal insufficiency combined with <i>Enterobacteriaceae</i> bloodstream infection: a retrospective study. [PDF]

PeerJ
Wang Y, Zhao J.
europepmc   +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

Clinical Outcomes and Patient Experiences With Celiprolol Therapy in Vascular Ehlers–Danlos Syndrome: The First Non‐European Cohort

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Vascular Ehlers–Danlos syndrome (vEDS) is a hereditary connective tissue disorder caused by heterozygous pathogenic variants in COL3A1. European studies have shown that celiprolol may reduce the risk of life‐threatening vascular events, but outcomes in non‐European populations and the therapy's psychological impact remain unclear. We conducted
Megumi Furuhata‐Yoshimura, Tomomi Yamaguchi, Tomoki Kosho   +2 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

Streamlining Diagnosis of Bardet–Biedl Syndrome: New Diagnostic Algorithm With Updated Criteria

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Considerable advances have been made in our understanding of Bardet–Biedl syndrome (BBS), particularly in its core clinical features and molecular genetics, warranting an update to the existing diagnostic criteria framework. Using a rigorous, evidence‐based, and consensus‐driven process, a multidisciplinary group of international experts and ...
Jeremy J. Pomeroy, Jesse Richards, Brooke R. Sweeney, Seema Kumar, Katie E. Queen, Joshua Zaritsky, Carl H. Cramer, Elias I. Traboulsi, Brittni A. Scruggs, Erica E. Davis, Ekaterina Keifer, Emma McGibbon, Timothy Ogden, Bendert De Graaf, Tonia Hymers, Elizabeth Forsythe, Philip Beales   +16 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

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