Results 171 to 180 of about 2,442,090 (308)

Case Report: Successful treatment of <i>Bartonella henselae</i>-associated crescentic glomerulonephritis in renal transplant recipient. [PDF]

Front Med (Lausanne)
Pierson S, Chabannes M, Lang S, Colladant M, Seibel J, Bamoulid J, Ducloux D, Courivaud C, Felix S, Crepin T.   +9 more
europepmc   +1 more source

Defining Features of Gabriele‐de Vries Syndrome in Adults: A Case Report and Literature Review

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Gabriele‐de Vries syndrome (GADEVS) is a neurodevelopmental disorder caused by heterozygous pathogenic variants in the YY1 gene. Like most rare genetic syndromes, the adult manifestations of GADEVS remain poorly defined. Here, we describe the oldest patient reported to date with GADEVS—a 63‐year‐old woman with a c.1177_1179del YY1 variant ...
Ethan W. Hollingsworth, Changrui Xiao
wiley   +1 more source

Randomized Controlled Trial of Dapagliflozin for Post-Transplant Diabetes Mellitus in Renal Transplant Recipients. [PDF]

Kidney Int Rep
Lin L, Li J, Zhou J, Gao X, Lin S, Wang D, Chen P.   +6 more
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

Anti-PD-1-induced bullous pemphigoid in a renal transplant recipient. [PDF]

SAGE Open Med Case Rep
Barnawi G, Kpata AJ, Aldibane R, Kashkari S, Lazarowitz R, Khanna M.   +5 more
europepmc   +1 more source

Sirolimus (rapamycin)-based therapy in human renal transplantation: similar efficacy and different toxicity compared with cyclosporine. Sirolimus European Renal Transplant Study Group.

Transplantation, 1999
C. Groth, L. Bäckman, J. Morales, R. Calne, H. Kreis, P. Lang, J. Touraine, K. Claesson, J. Campistol, D. Durand, L. Wramner, C. Brattström, B. Charpentier   +12 more
semanticscholar   +1 more source

Histidine Supplementation Stabilizes Hearing and Vision and Improves Growth in HARS1‐Related Autosomal Recessive Disorder Associated With Usher‐Like Symptoms

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Autosomal recessive HARS1‐related disorder (originally described as Usher syndrome type 3B) caused by a homozygous Y454S variant in the histidyl‐tRNA synthetase gene (HARS1) is characterized by progressive sensorineural hearing and vision loss and respiratory deterioration with risk for sudden death following febrile illnesses.
Victoria Mok Siu, Rosan Kenana, Rana Chakrabarti, Sarah D. P. Wilhelm, Joseph Andrews, Susan J. Leat, Christina Parker, Michael Miller, Leslie A. Nangle, Wendy McCaul, Ashfia Chowdhury, Natalie Hutchings, Ryan A. Adams, Lauren Guy, Mandy Rhody, Verena Juncal, Marisa I. Mendes, Desiree E. C. Smith, Gajja S. Salomons, Angelica A. Moresco, Daphne L. McCulloch, D. Holmes Morton, Ilka U. Heinemann, C. Anthony Rupar   +23 more
wiley   +1 more source

WCN25-2244 DIARRHEA IN RENAL TRANSPLANT RECIPIENTS: AN OBSERVATIONAL CROSS-SECTIONAL STUDY IN NORTH INDIA

Kidney International Reports
Dinesh Khullar, Tauseef Ahmed, Rahul Grover, Kulwant Singh, Deepak Panigrahi, Abhishek ., Narinder Pal Singh, Anish Gupta   +7 more
doaj   +1 more source

Comparative analysis of excessive daytime sleepiness and sleep apnea symptoms in renal transplant recipients and a historical dialysis cohort. [PDF]

J Taibah Univ Med Sci
Alharbi T, Alahmadi S, Almejaish T, Alburodi A, Alsaif M, Albader M, Altheaby A, Al-Jahdali Z, Rajendram R, Al-Jahdali H.   +9 more
europepmc   +1 more source

Severe ADEM‐Like Neuroinflammatory Disease and Cerebrovascular Fragility With Recurrent Pseudoaneurysms and Moyamoya in a Familial Germline CBL Mutation: Expanding the Clinical Phenotype

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Heterozygous germline variants in CBL disrupt its function as a negative regulator of the Ras/MAPK pathway, classically predisposing to Juvenile myelomonocytic leukemia (JMML) and moyamoya. We describe two affected siblings carrying a paternally inherited CBL variant (c.1210 T> C, p.
Michal Bar‐Hakim, Anat Abramovich, Sara Via‐Dorembus, Gali Heimer, Bruria Ben‐Zeev, Etai Adam, Assaf A. Barg, Jonathan Roth, Basheer Sheick‐Yousif, Rony Beeri Berkowiz, Michal Feldon, Haim Bassan, Moran Hausman‐Kedem   +12 more
wiley   +1 more source