Results 71 to 80 of about 45,305 (223)
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 +4 more
doaj +1 more source
Non-Hodgkin’s Lymphoma of the Uterine Cervix [PDF]
, 2012 Non Hodgkin’s Lymphoma (NHL) causes many deaths worldwide and its incidence is increasing. They occur commonly in middle aged and elderly people and are disseminated at diagnosis.
Kaler, AK, Vasudev, DS
core
Contrast-enhanced ultrasonography in hepatosplenic sarcoidosis [PDF]
, 2011 We report a case of a 38-year-old woman with atypical pain in the left lower hemi-abdomen. On abdominal B-mode ultrasonography the liver was normal; the spleen showed multiple subcentimetric hypoechoic nodules.
Afschrift, Marcel +5 more
core +2 more sources
Bleeding Disorders in Children With Genetic Diseases: A Narrative Review
Acta Paediatrica, EarlyView.ABSTRACT Aim The lack of data on bleeding risk assessment in children with genetic diseases is concerning given their increased care needs and risk of haemorrhagic complications compared to the general population. Identification of haemostatic disorders is crucial for implementing preventive measures and mitigating bleeding risk.
Raphaelle Cagol +6 more
wiley +1 more source
A mutation in caspase-9 decreases the expression of BAFFR and ICOS in patients with immunodeficiency and lymphoproliferation [PDF]
, 2015 Lymphocyte apoptosis is mainly induced by either death receptor-dependent activation of caspase-8 or mitochondria-dependent activation of caspase-9. Mutations in caspase-8 lead to autoimmunity/lymphoproliferation and immunodeficiency. This work describes
Boggio, E +15 more
core +2 more sources
Sarcoidosis presenting as granulomatous myositis in a 16-year-old adolescent [PDF]
, 2016 BACKGROUND: Sarcoidosis is a multi-system disease characterized by the presence of non-caseating epithelioid granulomas in affected tissues, including skeletal muscle.
Eutsler, Eric Eutsler +4 more
core +2 more sources
International Journal of Laboratory Hematology, EarlyView.ABSTRACT Background Accurate classification of novel globin gene variants is critical for the diagnosis and management of thalassaemia. The adaptation of ACMG/AMP guidelines for globin genes represents an important step toward standardising variant interpretation and enhancing clinical utility in the field.
Norafiza Mohd Yasin +14 more
wiley +1 more source
Epstein-Barr Virus-induced Jaundice [PDF]
, 2020 Infectious mononucleosis is primarily caused by Epstein-Barr virus (EBV) and is a common di-agnosis made in emergency departments worldwide. Subclinical and transient transaminase ele-vations are a well-established sequela of EBV.
Grimaldo, Felipe, Herold, Jessica
core
Clinical outcome of a patient with lysosomal acid lipase deficiency and first results after initiation of treatment with Sebelipase alfa: A case report [PDF]
, 2019 We report on a case of very rare autosomal recessive cholesteryl ester storage disease due to lysosomal acid lipase deficiency (LALD). LALD is caused by mutations in the lysosomal acid lipase A (LIPA) gene resulting in cholesteryl ester accumulation in
Bobbert, Thomas +8 more
core +1 more source
Omalizumab for Pediatric Cutaneous Mastocytosis: Case Report and Review
Pediatric Dermatology, EarlyView.ABSTRACT We report an 11‐month‐old boy with diffuse cutaneous mastocytosis whose severe pruritus and steroid dependence resolved following off‐label treatment with omalizumab. A literature review identified five additional pediatric cases in which omalizumab led to complete symptom resolution in an average of 2 months and permitted discontinuation of ...
Janis Chang +3 more
wiley +1 more source