Results 281 to 290 of about 586,059 (333)

Phenotypical Characterization of Gastroenterological and Metabolic Manifestations in Patients With Williams–Beuren Syndrome

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Gastrointestinal (GI) symptoms are common in patients with Williams–Beuren syndrome (WBS), but their prevalence and possible causes are not yet fully known. This study assessed GI symptoms' prevalence and their possible origin by performing a predefined set of tests in adult WBS patients.
Maria Francesca Bedeschi, Annarita Baldassarri, Roberta Villa, Federico Tanzi, Simona Salera, Vincenza Lombardo, Alessandro Draghi, Nicole Piazza O'Sed, Giovanni Casazza, Maurizio Vecchi, Mirella Fraquelli   +10 more
wiley   +1 more source

Natural History and Diagnostic Findings in an Adult Man Diagnosed With Attenuated Krabbe Disease

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Krabbe disease (KD), or globoid cell leukodystrophy, is a rare autosomal recessive lysosomal storage disorder caused by a deficiency in galactocerebrosidase (GALC), leading to psychosine (galactosylsphingosine) accumulation and myelin damage.
Eamon P. McCarron, Andrew Oldham, Amit Herwadkar, Sarah Jenkinson, Christopher Campbell, Kate Neal, Heather J. Church, James A. Cooper, Karolina M. Stepien   +8 more
wiley   +1 more source

Gut Microbiome Pilot Study of Patients With CHARGE Syndrome and Sibling Controls

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Difficulties with feeding and digestion are common in individuals with CHARGE syndrome. Animal models with CHD7 gene variants demonstrate abnormal gut innovation and dysmotility. Our pilot study evaluated whether individuals with CHARGE syndrome have differences in their gut microbiome compared to unaffected siblings.
Emily R. Chedrawe, Jessica Connors, Angela Arra, Katherine Dunn, Kim Blake, Johan van Limbergen   +5 more
wiley   +1 more source

Worth the Effort: Lessons for Discovery and Care From an Unusual Case of Gorlin Syndrome

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Gorlin‐Goltz Syndrome (GGS) is a rare autosomal dominant genetic disorder encompassing a diverse range of clinical manifestations, including congenital anomalies and predisposition to cancer. Pathogenic variants in PTCH1 and SUFU account for up to 79% and 6% of cases, respectively. Currently, an estimated 15%–27% of individuals with a clinical
V. Taliercio, J. Zhao, S. E. Boyden, R. Mao, P. Bayrak‐Toydemir, A. Pflaum, J. Palumbos, A. Andrews, E. E. Baldwin, C. Welt, Mackenzie Fait, Undiagnosed Diseases Network, L. D. Botto, D. Viskochil   +13 more
wiley   +1 more source

Application of humanized mice in the safety experiments of antibody drugs

Animal Models and Experimental Medicine, EarlyView.
The graphical abstract of this review highlights the critical role of humanized mice in the safety evaluation of antibody drugs. First, the inherent immunogenicity of antibody drugs can lead to the production of antidrug antibodies and hypersensitivity reactions on repeated administration.
Zhimin Sun, Mengyun Gu, Zixuan Yang, Lei Shi, Liyuan Zhao, Minhui Zheng, Yan Wang, Wei Zhang, Kexin Han, Naping Tang   +9 more
wiley   +1 more source

Predictive Value of Cardiac Biomarkers on Delayed Graft Function in Renal Transplant Patients. [PDF]

Arq Bras Cardiol
Amantéa RP, Olsen VDR, Hastenteufel LCT, Borges FK, Manfro RC, Goldraich LA, Clausell N.   +6 more
europepmc   +1 more source

Thrombocytopenia and Anemia After Cardiac Surgery

American Journal of Hematology, EarlyView.
Myriam Beshai, Nour Alhomsi, Theodore E. Warkentin   +2 more
wiley   +1 more source

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Delayed Graft Function and Cotrimoxazole

Transplantation Proceedings, 2011
Acute interstitial nephritis is an infrequent cause of early allograft dysfunction. Prophylactic trimethoprim sulfamethoxazole (cotrimoxazole) is frequently prescribed early in the course of kidney transplantation. Herein we have reported a case of delayed graft function associated with eosinophilia in which the renal biopsy showed interstitial ...
A. Ramos, Alberto Ortiz, C. Santonja, Antonio Barat, Jesús Egido, M. Acuña   +5 more
openaire   +3 more sources

Delayed graft function in kidney transplantation

Current Opinion in Organ Transplantation, 2019
Purpose of review Delayed graft function (DGF) has several long-term graft implications in the field of kidney transplantation and remains a challenge. The incidence of DGF is on the rise because of an increasing use of marginal kidneys in an era of organ shortage.
Disha Bahl, Y. Qazi, Asma Datoo, Zaid Haddad   +3 more
openaire   +3 more sources

Delayed graft function in kidney transplantation

The Lancet, 2004
Delayed graft function is a form of acute renal failure resulting in post-transplantation oliguria, increased allograft immunogenicity and risk of acute rejection episodes, and decreased long-term survival. Factors related to the donor and prerenal, renal, or postrenal transplant factors related to the recipient can contribute to this condition.
Mohamed H. Sayegh, Norberto Perico, Giuseppe Remuzzi, Dario Cattaneo   +3 more
openaire   +3 more sources