Results 71 to 80 of about 21,027 (214)

Pharmacological Treatment of Cerebellar Ataxia in Pediatric Ataxia‐Telangiectasia: A Systematic Review

European Journal of Neurology, Volume 33, Issue 7, July 2026.
ABSTRACT Introduction Ataxia‐telangiectasia (AT) is characterized by progressive cerebellar ataxia, oculomotor apraxia, immunodeficiency, and increased cancer susceptibility. No disease‐modifying treatment is available. This systematic review aimed to evaluate the efficacy and safety of pharmacological interventions for ataxia in pediatric AT. Method A
Fabiola Panvino, Roberto Paparella, Giorgia Urciuolo, Serena Galosi, Carlotta Spagnoli, Vincenzo Leuzzi, Francesco Pisani   +6 more
wiley   +1 more source

Unveiling a New Link: Cholesterol Deficiency in Smith–Lemli–Opitz and Niemann–Pick C as a Driver of Ciliopathies

American Journal of Medical Genetics Part A, Volume 200, Issue 6, Page 1179-1191, June 2026.
ABSTRACT The ciliopathies are a group of genetic disorders caused by defective function of either the primary cilia (a large number) or the motile cilia (a much smaller number). These have been defined as diseases with mutations in genes encoding individual ciliary or cilia‐associated proteins.
Robert P. Erickson, Maria Teresa Fiorenza   +1 more
wiley   +1 more source

Nutrition management of Niemann Pick disease type C: A case report

Endocrine Regulations, 2021
Objectives. We aim to report the clinical repercussions of a nutritional approach in a patient diagnosed with Niemann Pick disease type C (NPC) using miglustat as pharmacological therapy.
Viana dos Santos Rejane, das Neves Ferreira Tamila, Oliveira de Almeida Daniela, Brito da Silva Fatal Lilian, Queiroz Araujo Edilene Maria   +4 more
doaj   +1 more source

Pancytopenia With Hypocellular Bone Marrow Revealing Extrahepatic Portal Venous Obstruction and Cavernous Transformation in a Child: A Case Report of a Diagnostic Challenge

Clinical Case Reports, Volume 14, Issue 6, June 2026.
ABSTRACT Extrahepatic portal venous obstruction (EHPVO) is a leading cause of prehepatic portal hypertension in children, particularly in developing countries. While upper gastrointestinal bleeding is the most common presentation, EHPVO may rarely manifest predominantly with hematological abnormalities due to hypersplenism, posing a diagnostic ...
Swekchha Adhikari, Aakash Pandit, Melisha Koirala, Biplav Lamichhane, Ram Khadka, Aashish Panta, Shuvra Rimal   +6 more
wiley   +1 more source

Bibliometric Analysis of Cubebenes and Related Sesquiterpenes: Natural Occurrence, Biosynthesis, Pharmacological Activities, and In‐Silico‐Based Future Therapeutic Potential

eFood, Volume 7, Issue 3, June 2026.
Cubebene‐related sesquiterpenes, found across diverse biological sources, exhibit promising pharmacological activities, including anti‐inflammatory, neuroprotective, and anticancer effects. This review highlights their molecular diversity, ADME profiles, and predicted multitarget interactions, underscoring their therapeutic relevance and potential in ...
Khadija Boualam, Ahmet B. Ortaakarsu, Sohaib Khatib, Mohamed A. Farag, Mansour Sobeh   +4 more
wiley   +1 more source

Effect of Arabica Coffee Husk on Plasma Lipids and Obesity on Albino Rats

Food Science &Nutrition, Volume 14, Issue 6, June 2026.
Feeding on a high‐fat diet supplemented with Arabica coffee husks (CH) for 8 weeks led to an improvement in plasma lipids and adipose tissues in rats compared to the high‐fat diet. ABSTRACT Hyperlipidemia is a major risk factor for the development of cardiovascular diseases.
Shaheed Mohammed Alshaikhsaleh
wiley   +1 more source

Niemann-Pick type C disease

Journal of Lipid Research, 2002
We analyzed Niemann-Pick type C disease 1 (NP44406) gene in 12 patients with Niemann-Pick type C disease by sequencing both cDNA obtained from fibroblasts and genomic DNA. All the patients were compound heterozygotes.
Patrizia Tarugi, Giorgia Ballarini, Bruno Bembi, Carla Battisti, Silvia Palmeri, Francesca Panzani, Enza Di Leo, Cristina Martini, Antonio Federico, Sebastiano Calandra   +9 more
doaj   +1 more source

A Cross‐Disease Microglial Transcriptional Program Characterizes Neurodegeneration and Highlights SPP1 as a Biomarker

Glia, Volume 74, Issue 6, June 2026.
Distinct microglial subpopulations are depicted, highlighting variations in gene expression and functional roles in response to specific disease conditions and the complexity of microglial activation and differentiation in neurodegeneration. ABSTRACT Microglial cells are key players in maintaining brain homeostasis and responding to pathological ...
Alessandro Palma, Roberta Stefanelli, Francesco Trenta, Chiara Projetti, Greta Massa, Sonia Canterini, Maria Teresa Fiorenza   +6 more
wiley   +1 more source

Clinical observations of late infantile and juvenile forms of Niemann – Pick disease type C

Бюллетень сибирской медицины, 2017
A clinical description and analysis of cases of Niemann – Pick disease type C in two children are presented. The difficulty of the diagnosis is due to the polymorphism of clinical manifestations, variability in the age of manifestation, rarity of the ...
Irina F. Fedoseeva, Tatyana V. Poponnikova, Galina Yu. Galieva, Olga V. Ilyasova   +3 more
doaj   +1 more source

EHA Guidelines on management of chronic lymphocytic leukemia and Richter transformation

HemaSphere, Volume 10, Issue 6, June 2026.
Abstract Previous editions of the European guidelines for the management of chronic lymphocytic leukemia (CLL) were developed by experts in CLL under the auspices of the European Society for Medical Oncology (ESMO). These previous editions have served as a reference text for many physicians caring for patients with CLL.
Barbara Eichhorst, Paolo Ghia, Francesc Bosch, Ruth Clifford, Michael Gregor, Romain Guieze, Arnon P. Kater, Carsten U. Niemann, Sarka Pospisilova, Tadeusz Robak, Anna Schuh, Kostas Stamatopoulos, Tamar Tadmor, Nick York   +13 more
wiley   +1 more source