Results 41 to 50 of about 1,339 (134)

Ocular manifestations and multimodal imaging in infantile nephropathic cystinosis [PDF]

QJM : monthly journal of the Association of Physicians
Shalaka Ramesh Waghamare, Deepa Kumari, Ramanuj Samanta, Ajai Agrawal   +3 more
openalex   +2 more sources

mTOR signaling in renal ion transport

Acta Physiologica, Volume 238, Issue 1, May 2023., 2023
Abstract The mammalian target of rapamycin (mTOR) signaling pathway is crucial in maintaining cell growth and metabolism. The mTOR protein kinase constitutes the catalytic subunit of two multimeric protein complexes called mTOR complex 1 (mTORC1) and mTOR complex 2 (mTORC2).
Anastasia Adella, Jeroen H. F. de Baaij
wiley   +1 more source

Novel truncating mutation in the CTNS gene in an Egyptian family with cases of infantile nephropathic cystinosis and congenital heart malformations [PDF]

, 2012
Mohammad Al-Haggar, Anna Taranta, Amany El-Hawary, Afaf Alsaid, Abdel-Aziz Shaban, Yahya Wahba   +5 more
openalex   +2 more sources

Body growth, upper arm fat area, and clinical parameters in children with nephropathic cystinosis compared with other pediatric chronic kidney disease entities

Journal of Inherited Metabolic Disease, Volume 45, Issue 2, Page 192-202, March 2022., 2022
Abstract Children with infantile nephropathic cystinosis (INC), an inherited lysosomal storage disease resulting in cystine accumulation in all body cells, are prone to progressive chronic kidney disease (CKD), impaired growth and reduced weight gain; however, systematic anthropometric analyses are lacking.
Rika Kluck, Sophia Müller, Celina Jagodzinski, Katharina Hohenfellner, Anja Büscher, Markus J. Kemper, Jun Oh, Heiko Billing, Julia Thumfart, Lutz T. Weber, Birgit Acham‐Roschitz, Klaus Arbeiter, Burkhard Tönshoff, Martina Hagenberg, Nele Kanzelmeyer, Leo Pavičić, Dieter Haffner, Miroslav Zivicnjak   +17 more
wiley   +1 more source

Ophthalmic Evaluation of Diagnosed Cases of Eye Cystinosis: A Tertiary Care Center’s Experience

Diagnostics, 2020
Background: We aimed to identify diagnosed cases of ocular cystinosis and describe clinical, epidemiological and therapeutic characteristics. Methods: This is a descriptive and retrospective case series. All patients underwent a full check-up examination
Malgorzata Kowalczyk, Mario Damiano Toro, Robert Rejdak, Wojciech Załuska, Caterina Gagliano, Przemyslaw Sikora   +5 more
doaj   +1 more source

Spectrum of histopathological findings in pediatric renal biopsies; a five-year single center experience in Egypt [PDF]

Journal of Nephropathology, 2023
Introduction: Medical renal diseases stand as one of the major health problems in pediatric age group considering its morbidity/mortality and the subsequent management plans.
Wael Mostafa Hamza, Ahmed Fayed, Amr Mohamed Shaker, Mahmoud Mohamed El Nokeety   +3 more
doaj   +1 more source

Establishing an objective biomarker for corneal cystinosis using a threshold‐based Spectral domain optical coherence tomography imaging algorithm

Acta Ophthalmologica, Volume 99, Issue 2, Page e189-e195, March 2021., 2021
Abstract Purpose The purpose of the present study was to establish a semi‐automated threshold‐based image segmentation algorithm to detect and objectively quantify corneal cystine crystal deposition in ocular cystinosis with anterior segment optical coherence tomography (AS‐OCT).
Leonie Keidel, Carolin Elhardt, Katharina Hohenfellner, Siegfried Priglinger, Benedikt Schworm, Christian Wertheimer, Claudia Priglinger, Nikolaus Luft, S Bechtold Dalla Pozza, C Bergmann, M Buss, R Dosch, J Erler, T Getzinger, N Herzig, K Hohenfellner, H Holla, C Knerr, C Koeppl, C Ockert, M Passow, J Rohayem, G Steidle, A Thiele, U Treikauskas, K Vill, R Weber, D Weitzel   +27 more
wiley   +1 more source

Nephropathic cystinosis in a kidney transplant recipient: A mesenteric lymph node demonstrates positive birefringent crystals

Human Pathology Reports, 2022
We report a kidney transplant recipient in their early twenties with infantile nephropathic cystinosis and EBV viremia who presented with right flank pain, night sweats, and right lower quadrant abdominal tenderness. A CT scan of the abdomen demonstrated
Trevor F. Killeen, Sarah L. Elfering, Samy M. Riad, Michael A. Linden, Ethan Y. Leng, Raja Kandaswamy, Sarah J. Kizilbash, Blanche M. Chavers, James V. Harmon   +8 more
doaj   +1 more source

Clinical application of a phenotype‐based NGS panel for differential diagnosis of inherited kidney disease and beyond

Clinical Genetics, Volume 99, Issue 2, Page 236-249, February 2021., 2021
Abstract Understanding the genetic causes of kidney disease is essential for accurate diagnosis and could lead to improved therapeutic strategies and prognosis. To accurately and promptly identify the genetic background of kidney diseases, we applied a targeted next‐generation sequencing gene panel including 203 genes associated with kidney disease, as
Jiyoung Oh, Jae Il Shin, Keumwha Lee, CheolHo Lee, Younhee Ko, Jin‐Sung Lee   +5 more
wiley   +1 more source

Newborn Screening: Review of its Impact for Cystinosis

Cells, 2022
Newborn screening (NBS) programmes are considered to be one of the most successful secondary prevention measures in childhood to prevent or reduce morbidity and/or mortality via early disease identification and subsequent initiation of therapy.
Katharina Hohenfellner, Ewa Elenberg, Gema Ariceta, Galina Nesterova, Neveen A. Soliman, Rezan Topaloglu   +5 more
doaj   +1 more source