Results 71 to 80 of about 7,637 (215)

Neuropathic Cystinosis: A Rare Case Report

مجله كليه طب الكندي
Cystinosis is a lysosomal storage disease characterized by an intracellular accumulation of cystine in different organs and tissues, leading to potentially severe organ dysfunction.
Ahmed Muthana, Rabab Farhan Thejeal, Ikhlas Ali Ahmed   +2 more
doaj   +1 more source

CRISPR-Cas9 Gene Editing of Hematopoietic Stem Cells from Patients with Friedreich's Ataxia. [PDF]

, 2020
Friedreich's ataxia (FRDA) is an autosomal recessive neurodegenerative disorder caused by expansion of GAA repeats in intron 1 of the frataxin (FXN) gene, leading to significant decreased expression of frataxin, a mitochondrial iron-binding protein.
Cherqui, Stephanie, Haquang, Joseph H, Luebeck, Jens, Mali, Prashant, Rainaldi, Joseph N, Rocca, Celine J, Sharma, Jay, Shi, Yanmeng   +7 more
core  

Averting the legacy of kidney disease: focus on childhood [PDF]

, 2016
World Kidney Day 2016 focuses on kidney disease in childhood and the antecedents of adult kidney disease that can begin in earliest childhood. Chronic kidney disease (CKD) in childhood differs from that in adults, as the largest diagnostic group among ...
Franz Schaefer, Julie R. Ingelfinger, Kamyar Kalantar-Zadeh, null null   +3 more
core   +6 more sources

Evaluating Quality of Care Indicators for Metastasis Development in Cutaneous Squamous Cell Carcinoma Among Mexican Renal Transplant Recipients

JEADV Clinical Practice, Volume 4, Issue 2, Page 499-502, June 2025.
ABSTRACT Background Cutaneous squamous cell carcinoma (cSCC) poses a high metastatic risk in immunosuppressed individuals, especially organ transplant recipients (OTRs). Despite international guidelines recognizing these risks, no universal standard exists for assessing quality of care (QoC) in cSCC.
Andrea Malagon‐Liceaga, Jesus Alejandro Romero‐Aguila, Bonfilio Roberto Lazcano‐Prieto, Fanny Carolina Lopez‐Jimenez, Rebeca Palafox‐Romo, Samantha Paola Bermudez Rodriguez, Verónica Monserrat Díaz Sanchez, Judith Dominguez‐Cherit, Silvia Mendez‐Flores, Ana Lilia Ruelas‐Villavicencio   +9 more
wiley   +1 more source

Nephropathic cystinosis presenting with uveitis: Report of a “Can't See, Can't Pee” situation

Indian Journal of Pathology and Microbiology, 2019
Nephropathic cystinosis is a rare autosomal recessive lysosomal disease characterized by accumulation of pathognomonic cystine crystals in renal and other tissues of the body.
Smita Mary Matthai, Shibu Jacob, Mandeep S Bindra, Vinoi George David, Santosh Varughese   +4 more
doaj   +1 more source

A severe course of serogroup W meningococcemia in a patient with infantile nephropathic cystinosis

Human Vaccines & Immunotherapeutics, 2020
We present a 9-month old boy with cystinosis admitted to our hospital with the complaints of vomiting, diarrhea and seizure. While he was hospitalized in a pediatric intensive care unit due to worsening of his signs related to cystinosis, within hours ...
Gurkan Bozan, Omer Kilic, Nuran Çetin, Gonca Kılıç Yıldırım, Hasan Bora Ulukapi, Merve Iseri Nepesov, Aslı Kavaz Tufan, Ener Cagri Dinleyici   +7 more
doaj   +1 more source

Combined liver-kidney transplantation: Analysis of patients with preformed lymphocytotoxic antibody [PDF]

, 1988
In this report, we address combined liver-kidney transplantation, with particular attention to the apparent phenomenon of protection of kidney allografts to antibody mediated destruction by liver allografts.
Duquesnoy, R, Fung, J, Gordon, R, Griffin, M, Klintmalm, G, Makowka, L, Starzl, T, Todo, S, Tzakis, A   +8 more
core  

Tacrolimus in pediatric renal transplantation [PDF]

, 1996
Tacrolimus was used as the primary immunosuppressive agent in 69 pediatric renal transplantations between December 17, 1989, and June 30, 1995. Children undergoing concomitant or prior liver and/or intestinal transplantation were excluded from analysis ...
Ellis, D, Fung, JJ, Gilboa, N, Gritsch, HA, Hakala, TR, Irish, W, Jordan, ML, Lombardozzi-Lane, S, Scantlebury, VP, Shapiro, R, Simmons, RL, Starzl, TE, Vivas, C   +12 more
core   +1 more source

Role of Biomarkers in Diagnosing Disease, Assessing the Severity and Progression of Disease, and Evaluating the Efficacy of Therapies

Journal of Inherited Metabolic Disease, Volume 48, Issue 3, May 2025.
ABSTRACT This paper reviews biomarkers in lysosomal disease according to their categories and definitions. There are numerous biomarkers in lysosomal diseases. Some are disease or organ‐specific, but most are not. Organ‐specific biomarkers are especially useful, but most biomarkers help with diagnosis, assessing disease severity, prognosis, and ...
Raphael Schiffmann
wiley   +1 more source

Tgm2‐Catalyzed Covalent Cross‐Linking of IκBα Drives NF‐κB Nuclear Translocation to Promote SASP in Senescent Microglia

Aging Cell, Volume 24, Issue 5, May 2025.
Tgm2 is highly expressed in senescent microglia. The Tgm2‐NF‐κB‐SASP loop facilitates senescence in microglia. Tgm2‐catalyzed covalent crosslinking of IκBα at K22 and Q248 in the cytoplasm of senescent microglia leads to a reduction in IκBα levels and NF‐κB nuclear translocation.
Zhiqiang Li, Tianxiang Wang, Sijing Du, Zelong Miao, Yujiao Zhao, Yuxiang Tang, Xianbin Meng, Shangcheng Yu, Dongyuan Zhang, Hao Jiang, Kunlin Du, Wei Wei, Haiteng Deng   +12 more
wiley   +1 more source