Results 61 to 70 of about 6,358 (193)

Tension between the need for certainty and numerous uncertainties—A focus group study on various perspectives on a potential genomic newborn screening program in Germany

Journal of Genetic Counseling, Volume 34, Issue 3, June 2025.
Abstract The advancement of genome sequencing technology and its potential application in newborn screening is being discussed in various countries. Genomic newborn screening (gNBS) can provide parents with information about their child's genetic susceptibility for known disorders. However, it also presents ethical and psychosocial challenges.
Elena Sophia Doll, Julia Mahal, Karla Alex, Seraina Petra Lerch, Stefan Kölker, Christian P. Schaaf, Eva C. Winkler, Beate Ditzen   +7 more
wiley   +1 more source

Drug Repurposing in Rare Diseases: An Integrative Study of Drug Screening and Transcriptomic Analysis in Nephropathic Cystinosis

International Journal of Molecular Sciences, 2021
Diagnosis and cure for rare diseases represent a great challenge for the scientific community who often comes up against the complexity and heterogeneity of clinical picture associated to a high cost and time-consuming drug development processes. Here we
F. Bellomo, Ester De Leo, A. Taranta, L. Giaquinto, G. di Giovamberardino, S. Montefusco, L. Rega, A. Pastore, D. Medina, D. di Bernardo, M. D. De Matteis, F. Emma   +11 more
semanticscholar   +1 more source

Role of biomarkers of inflammation and MRI technique for the early detection of cystinosis-associated myopathy

Egyptian Pediatric Association Gazette
Background Cystinosis is an autosomal recessive lysosomal storage disorder caused by cystine crystals accumulation within lysosomes resulting in multi-organ dysfunction.
Rasha Helmy, Rasha Selim Mahmoud, Mohamed A. Elmonem, Sally Emadeldin, Neveen Abd Elmonem Soliman   +4 more
doaj   +1 more source

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

A comparison of immediate release and delayed release cysteamine in 17 patients with nephropathic cystinosis

Orphanet Journal of Rare Diseases, 2021
Background Nephropathic cystinosis is a rare and severe metabolic disease leading to an accumulation of cystine in lysosomes which especially harms kidney function.
C. van Stein, Sabrina Klank, M. Grüneberg, C. Ottolenghi, J. Grebe, J. Reunert, E. Harms, T. Marquardt   +7 more
semanticscholar   +1 more source

Infantile Nephropathic Cystinosis in Sulaimani Pediatric Teaching Hospital: A Retrospective Cohort Study

Kurdistan Journal of Applied Research, 2018
Cystinosis is a rare metabolic autosomal recessive disorder which characterized by intralysosomal accumulation of cystine. There are three forms; infantile nephropathic is the commonest forms.
Hunar Jamal Hussein, Khalid Hama Salih, Adnan Mohammed Hasan   +2 more
doaj   +1 more source

Unveiling cystinosis in India

Journal of Rare Diseases
Background Cystinosis, a rare autosomal recessive disease, stems from genetic alterations in the CTNS gene, leading to a malfunction of lysosomal ‘cystinosin’ protein.
Aniruddh Heroor, Anshuman Verma, Divya Sree Achanta, Deepak Paul Edward, Muralidhar Ramappa   +4 more
doaj   +1 more source

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

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