Results 11 to 20 of about 32,645 (198)
POEMS Syndrome with Biclonal Gammopathy: A Rare Association [PDF]
Journal of Clinical and Diagnostic Research, 2017 Polyneuropathy, Organomegaly, Endocrinopathy, M protein and Skin changes (POEMS) syndrome is rare plasma cell dyscrasia with multisystem involvement. The name comes from the five characteristic features: Polyneuropathy, organomegaly, endocrinopathy, M ...
DIBYENDU DE +2 more
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Letter to the Editor: Coexistence of Autoimmune Lymphoproliferative Syndrome and Familial Mediterranean Fever [PDF]
Iranian Journal of Immunology, 2020 Autoimmune lymphoproliferative syndrome (ALPS) is a rare inherited disorder of apoptosis, most commonly due to mutations in the FAS (TNFRSF6) gene. ALPS caused by defective lymphocyte homeostasis is characterized by non-malignant lymphoproliferation that
Sultan Aydin Koker +5 more
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Thalassaemia Trait with Gaucher Disease: A Diagnostic Dilemma [PDF]
Journal of Clinical and Diagnostic Research, 2017 Gaucher Disease is an autosomal recessive disease caused by the accumulation of glucocerebrosidase due to deficiency in lysosomal glucocerebrosidase. Thalassaemia trait is asymptomatic and is usually an incidental diagnosis.
Jyoti Ramnath Kini +4 more
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Isolated abdominal sarcoidosis presenting with hypercalcemic crisis: A rare case
MAMC Journal of Medical Sciences, 2015 Sarcoidosis is a granulomatous disease of unknown origin, with pulmonary findings in more than 90% of patients. Extrapulmonary involvement is common and all organs can be involved (especially lymph nodes, eyes, joints, and central nervous system) but it ...
Nidhi Anand +3 more
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Sarcoidosis in a Toddler: A Rare Presentation [PDF]
Pediatric Sciences Journal (Egypt), 2022 Sarcoidosis is rare multi-system granulomatous inflammatory disorder. It is reported to present by two distinct presentations in childhood.
Magd A. Kotb +5 more
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PROBLEM OF DIAGNOSIS OF EARLY CONGENITAL SYPHILIS
Детские инфекции (Москва), 2015 The paper presents a case of delayed diagnosis of early congenital syphilis in a child whose mother was observed in prenatal clinic starting from the 14th week of pregnancy. The child had specific skin rash already in maternity.
G. P. Martynova, N. F. Kuznetsova
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Frontiers in Pediatrics, 2021 Familial hemophagocytic lymphohistiocytosis (FHL) is a rare, potentially fatal autosomal-recessive immunodeficiency, and STXBP2 mutations have been associated with FHL type 5 (FHL-5).
Vera Maria Dantas +7 more
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Frontiers in Pediatrics, 2019 Perinatal lethal Gaucher disease (PLGD), a particular and serious form of type 2 Gaucher disease (GD), often causes lethality in utero or death within hours after birth.
Meili Wei +3 more
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A case of PUO in diabetes mellitus
Current Medicine Research and Practice, 2022 Histoplasma capsulatum, a thermal dimorphic fungus, is the agent of histoplasmosis. It is a common cause of endemic mycosis. We report the case of a 64-year-old female, a known case of diabetes mellitus, hypertension, beta-thalassemia trait who presented
P K Agarwal +3 more
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Niemann-Pick Disease, Type A: Clinical Case of 5 Months Old Patient
Вопросы современной педиатрииBackground. Niemann-Pick disease, type A is a rare hereditary disease from the group of lysosomal storage diseases, it is characterized by early onset and progressive course. Description of this disease’s clinical cases is crucial for early diagnosis and
Nataliya V. Zhurkova +7 more
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