Results 51 to 60 of about 32,645 (198)

GAUCHER’S DISEASE

Педиатрическая фармакология, 2013
The article gives data on epidemiology, pathogenesis, modern classification and the main clinical manifestations of Gaucher’s disease in children; it also gives criteria of differential diagnostics with other diseases.
O. S. Gundobina, E. V. Komarova, L. S. Namazova-Baranova, А. K. Gevorkyan, G. B. Movsisyan   +4 more
doaj   +1 more source

The IL‐10/IL‐6 Ratio and the Risk Score: Two Cytokines‐Based Predictors for Malignancy‐Associated Hemophagocytic Lymphohistiocytosis in Adults (M‐HLHa)

American Journal of Hematology, Volume 101, Issue 9, Page 2214-2224, September 2026.
ABSTRACT The predictive value of cytokines (CK) for malignancy‐associated adult hemophagocytic lymphohistiocytosis (M‐HLHa) remains uncertain. We evaluated a cytokine‐based Risk Score (RS) and the IL‐10/IL‐6 Ratio to predict M‐HLHa. Adult patients (n = 112) from the French HLH cohort (NCT02113917) with complete data for nine key HLH related CK measured
Coralie Bloch, Stephanie Chhun, Nanthara Sritharan, Marine Gil, Raphael Lhote, Marouane Boubaya, Olivier Lambotte, David Launay, Claire Larroche, Estibaliz Lazaro, Francois Liffermann, Marc Michel, Jean‐Marie Michot, Pierre Morel, Louis Terriou, Geoffrey Urbansk, Jean‐Francois Viallard, Morgane Cheminant, Felipe Suarez, Yves Lepelletier, Geneviève de Saint Basile, Olivier Hermine, the French HLH Study Group, Coralie Bloch, Jean Philippe Jais, Francois Liffermann, Pierre Morel, Morgane Cheminant, Felipe Suarez, Olivier Hermine, Fabrice Bonnet, Pascal Godemer, Damaj Gandhi, Olivier Fain, Olivier Lambotte, David Launay, Louis Terriou, Claire Larroche, Estibaliz Lazaro, Jean‐Francois Viallard, Francois Liffermann, Olivier Lortholary, Marc Michel, Jean‐Marie Michot, Pierre Morel, Frederic Pene, Antoinette Perlat, Geoffrey Urbanski   +47 more
wiley   +1 more source

Acute Rheumatic Fever Without Pharyngitis: A Case Report

Journal of General and Family Medicine, Volume 27, Issue 5, September 2026.
ABSTRACT An 18‐year‐old man presented with fatigue and polyarthralgia refractory to nonsteroidal anti‐inflammatory drugs (NSAIDs). He had no history of sore throat or other upper respiratory symptoms. Reactive arthritis was initially suspected. However, persistent symptoms, fever, polyarthritis, a cardiac murmur, atrioventricular block, and an elevated
Hiroki Suzuyama, Ryutaro Hashimoto, Fumiya Taketomi, Ikuma Noge, Tadaaki Arimura, Hiroaki Takeoka, Atsuhiko Sakamoto, Shigeki Nabeshima   +7 more
wiley   +1 more source

Global developmental delay with psychotic disorder at onset of late-infantile form of Niemann-Pick disease type C: A case report

Alʹmanah Kliničeskoj Mediciny
Niemann-Pick disease type C (NP-C) is a rare, progressive, autosomal recessive neurodegenerative disorder with onset at various ages, caused by pathogenic variants in the NPC1 or NPC2 genes.
Dmitriy V. I, Tatiana N. Proskokova
doaj   +1 more source

The Role of Hematopoietic Cell Transplantation in Ataxia‐Telangiectasia

Pediatric Blood &Cancer, Volume 73, Issue 8, August 2026.
ABSTRACT Background Ataxia‐telangiectasia (A‐T) is a DNA repair disorder characterized by neurodegeneration, immunodeficiency, and cancer predisposition. Hematopoietic cell transplantation (HCT) is an established therapy in related disorders such as Fanconi anemia (FA) and Nijmegen breakage syndrome (NBS), but its role in A‐T is unclear.
Laila Alkhouli, Seth Rotz, Masatoshi Takagi, Richa Sharma   +3 more
wiley   +1 more source

Prevalence and Clinico-diagnostic Correlation of Hepatosplenomegaly in Children Admitted at a Tertiary Center in Kathmandu

Journal of Karnali Academy of Health Sciences
Background: Hepatosplenomegaly is the simultaneous enlargement of liver and spleen.  Its causes are enteric fever, hepatitis, scrub typhus, acute liver failure and leukemia and so on.
Uttara Gautam, Kashyap Narsingh Shakya, Harihar Adhikari, Kamal Prasad Thani, Sandip Kumar Sharma   +4 more
doaj   +3 more sources

Aggressive natural killer-cell leukemia: Classical presentation of a rare disease

Indian Journal of Pathology and Microbiology, 2014
Aggressive natural killer-cell leukaemia is a rare aggressive form of natural killer-cell neoplasm. We report a case of a 40-year-old male who presented with jaundice, raised blood counts,generalised lymphadenopathy and hepatosplenomegaly.
Priya M Jacob, Rekha A Nair, Anila Kunjulekshmi Amma Raveendran Nair   +2 more
doaj   +1 more source

When macrophages have more than one thing to show

British Journal of Haematology, EarlyView.
Hachem Abou Moustafa, Maïlys Le Guyader, Pierre Loiseau, Yohann Le Govic, Thomas Boyer   +4 more
wiley   +1 more source

Atypical Clinical Course of Griscelli Syndrome Type 2 With Primarily Neurologic Presentation and Adult‐Onset in a 46‐Year‐Old Male

American Journal of Medical Genetics Part A, Volume 200, Issue 8, Page 1850-1855, August 2026.
ABSTRACT Griscelli Syndrome Type 2 (GS2) is a rare autosomal recessive disorder caused by pathogenic mutations in the RAB27A gene. Typically, it is characterized by cutaneous hypopigmentation, immunodeficiency, with or without neurological abnormalities secondary to hemophagocytic lymphohistiocytosis (HLH). Without treatment, GS2 often results in fatal
Dzhoy Papingi, Michael Kutsche, Helena Lichtenfeld, Fanny Kortüm, Angela Abicht, Laura Herrmann, Theresia Herget   +6 more
wiley   +1 more source

A Case Report of Familial Chylomicronemia Syndrome With Infantile Onset: One‐Year Follow‐Up on Lipid Profile and Growth Development

Clinical Case Reports, Volume 14, Issue 8, August 2026.
ABSTRACT Familial chylomicronemia syndrome (FCS) is a rare autosomal recessive disease caused by a biallelic loss‐of‐function mutation in the lipoprotein lipase (LPL) gene or its cofactors. This case report describes the diagnosis, management, and one‐year follow‐up of an infant with FCS.
Jinyi Liu, Xuanyu Meng, Yi Wu, Guosheng Huang, Shuheng Liang   +4 more
wiley   +1 more source