Results 51 to 60 of about 1,485 (158)

Intermediate type cystinosis with a novel CTNS variant in a child: a case report

Journal of Rare Diseases
Cystinosis is a rare lysosomal storage disorder caused by a variant in the CTNS gene that leads to the accumulation of cystine in the body’s tissues.
Mugahid Elamin, Ghada Alzhrany, Reem Mohamed, Wafa Daw, Bashiar Alabbasi, Muawia Ahmed, Yassir Bakhiet, Yomna Aloufi, Majed Aloufi   +8 more
doaj   +1 more source

Evaluating the Genotoxicity and Mutagenicity of Food Contaminants: Acrylamide, Penitrem A, and 3‐Acetyldeoxynivalenol in Individual and Combined Exposure In Vitro

Journal of Applied Toxicology, Volume 45, Issue 9, Page 1750-1760, September 2025.
ABSTRACT This study aimed to evaluate the genotoxic effects of food contaminants exposure in human neuroblastoma SH‐SY5Y cells using the micronucleus (MN) assay and Ames test. Acrylamide (AA), penitrem A (PEN A), and 3‐acetyldeoxynivalenol (3‐ADON) were tested both individually and in combination.
Luna Bridgeman, Cristina Juan, Houda Berrada, Isabelle Severin, Ana Juan‐García   +4 more
wiley   +1 more source

The Utility of High‐Sensitivity Troponin to Detect Cardiomyopathy in Patients With Fabry Disease

JIMD Reports, Volume 66, Issue 5, September 2025.
ABSTRACT Fabry disease (FD) is an X‐linked lysosomal storage disease resulting in lysosomal accumulation of glycosphingolipids in multiple organs. In this study, we (1) compare high‐sensitivity cardiac troponins I and T (hs‐cTnI and hs‐cTnT) as markers of Fabry cardiomyopathy (FC), and (2) evaluate the role of hs‐cTn in monitoring early‐stage FC to ...
Subadra Wanninayake, Tejas Kalaria, Antonio Ochoa‐Ferraro, Ashwin Roy, Richard Steeds, Tarekegn Geberhiwot, Charlotte Dawson   +6 more
wiley   +1 more source

Diagnostic challenge in a patient with nephropathic juvenile cystinosis: a case report

BMC Nephrology, 2017
Background Cystinosis is a rare autosomal recessive lysosomal disorder characterized by the accumulation of cystine in lysosomes. Cystinosis is much rarer in Asian than Caucasian populations. There are only 14 patients have with cystinosis alive in Japan.
Satomi Higashi, Natsuki Matsunoshita, Masako Otani, Etsuro Tokuhiro, Kandai Nozu, Shuichi Ito   +5 more
doaj   +1 more source

Application of next generation sequencing in genetic counseling a case of a couple at risk of cystinosis

BMC Medical Genetics, 2020
Background In Morocco, consanguinity rate is very high; which lead to an increase in the birth prevalence of infants with autosomal recessive disorders. Previously, it was difficult to diagnose rare autosomal recessive diseases.
Mouna Ouhenach, Abdelali Zrhidri, Imane Cherkaoui Jaouad, Wiam Smaili, Abdelaziz Sefiani   +4 more
doaj   +1 more source

Impact of Conditioning Intensity on Survival in Adult Patients (< 65 Years) With Acute Myeloid Leukemia Receiving Antithymocyte Globulin and Post‐Transplantation Cyclophosphamide Based GVHD Prophylaxis

European Journal of Haematology, Volume 115, Issue 3, Page 251-259, September 2025.
ABSTRACT Introduction Myeloablative conditioning (MAC) for acute myeloid leukemia (AML) improves disease control by reducing relapse risk but is associated with higher non‐relapse mortality (NRM). Reduced‐intensity conditioning (RIC) aims to minimize toxicity but raises concerns about higher relapse rates.
Ahmed Alnughmush, Ruah Alyamany, Mats Remberger, Ivan Pasic, Igor Novitzky‐Basso, Arjun Datt Law, Wilson Lam, Dennis Dong Hwan Kim, Fotios V. Michelis, Armin Gerbitz, Rajat Kumar, Jonas Mattsson, Auro Viswabandya   +12 more
wiley   +1 more source

Risk of Relapse Post Reduced Intensity Conditioning Allogeneic Stem Cell Transplant in Patients With High‐Risk Myeloid Neoplasms Based on GvHD Prophylaxis: PTCy Vs. TAC/MTX

American Journal of Hematology, Volume 100, Issue 11, Page 2134-2139, November 2025.
Khalil Hassan, Anmol Baranwal, Al Rabee Kassis, Jade Braun, Gabriel Bartoo, Robert Wolf, Mehrdad Hefazi, Aasiya Matin, Abhishek Mangoankar, Mithun V. Shah, Mark R. Litzow, William J. Hogan, David Dingli, Hassan B. Alkhateeb   +13 more
wiley   +1 more source

High‐intensity interval training attenuates cardiac injury by targeting ferroptosis and endoplasmic reticulum‐stress in male rats with heart failure

Physiological Reports, Volume 13, Issue 18, September 2025.
Abstract This study investigated the effects of high‐intensity interval training (HIIT) on endoplasmic reticulum (ER) stress, ferroptosis, and iron deposition in rats with heart failure (HF). HF was induced by intraperitoneal injection of isoprenaline (130 mg/kg/day) for 4 days. Afterward, rats were divided into control healthy (Control), HF sedentary (
Aida Sabouri, Abbasali Gaeini, Soheila Adeli, Alireza Ghardashi Afousi   +3 more
wiley   +1 more source

Association Between CD147 Expression, RAS Mutational Status, and Local Recurrence in Resected Locally Advanced Rectal Cancer

Cancer Medicine, Volume 14, Issue 15, August 2025.
ABSTRACT Aim About 5% to 10% of rectal cancer (RC) patients experience local disease recurrence after chemoradiotherapy (CRT) and surgery. Identifying patients at high risk of local recurrence (LR) could lead to the personalized management of the patients. Multiple clinicopathological parameters are associated with LR.
Anaëlle Isnard, Laure‐Amandine Cramier, Rémi Vergara, Mehdi Boubaddi, Donatien Fouche, Benjamin Fernandez, Nathalie Senant, Quentin Denost, Éric Rullier, Pierre Dubus, Sandrine Dabernat, Charles Dupin, Véronique Vendrely, Anne Rullier, Samuel Amintas   +14 more
wiley   +1 more source

Protective Effects of Pectin From Honey‐Processed Hawthorn on Acute Myocardial Ischemia

Food Science &Nutrition, Volume 13, Issue 8, August 2025.
Pectin prophylaxis improved myocardial enzyme levels and oxidative stress indicators in AMI rats, with hawthorn pectin enriched Lachnospira and increased acetic acid content, while honey‐processed hawthorn pectin enriched Monoglobus and increased propionic acid content.
Jing Li, Meiqi Liu, Yu Zheng, Qian Cai, Baojie Zhang, Yang Qu   +5 more
wiley   +1 more source