Results 61 to 70 of about 60,964 (282)

Differential diagnostics and correction of metabolic and immunological disorders in patients with hepatic cirrhosis, complicated hepatosplenomegalia and portal hypertension

open access: yesАктуальні проблеми сучасної медицини, 2019
Summary: The study of the role of the spleen in the pathogenesis of liver cirrhosis is important for treatment. Currently available literature data indicate the role of altered spleen functions in the pathogenesis of liver cirrhosis.
Olena   +6 more
doaj  

From hepatosplenomegaly to genetic diagnosis: A case of congenital disorder of glycosylation type IIb due to mannosyl-oligosaccharide glucosidase mutation

open access: yesJournal of Integrative Medicine and Research
Congenital disorders of glycosylation (CDG) are rare metabolic conditions with heterogeneous presentations, often complicating diagnosis. We report a 5-year-old male born to consanguineous parents, presenting with a 2-year history of painless abdominal ...
Hari Nandan Reddy Golla   +4 more
doaj   +1 more source

Fatty Liver and Systemic Atherosclerosis in a Young, Lean Patient: Rule Out Lysosomal Acid Lipase Deficiency

open access: yesCase Reports in Gastroenterology, 2019
Lysosomal acid lipase deficiency (LALD) is a rare genetic disease characterized by the accumulation of cholesteryl esters and triglycerides in many organs, including the liver, spleen, lymph nodes, bone marrow, and vascular endothelium.
Maria Zharkova   +4 more
doaj   +1 more source

Prolonged Fever, Hepatosplenomegaly, and Pancytopenia in a 46-Year-Old Woman

open access: yesPLoS Medicine, 2009
Liran Levy and colleagues discuss the differential diagnosis, investigation, and management of a 46-year-old woman with fever, weakness, night sweats, and weight loss.
Liran Levy   +5 more
semanticscholar   +1 more source

Diagnostic and therapeutic considerations in idiopathic hypereosinophilia with warm autoimmune hemolytic anemia. [PDF]

open access: yes, 2015
Hypereosinophilic syndrome (HES) encompasses numerous diverse conditions resulting in peripheral hypereosinophilia that cannot be explained by hypersensitivity, infection, or atopy and that is not associated with known systemic diseases with specific ...
Brys, Adam K   +3 more
core   +1 more source

Diagnostic Performance of Comprehensive Point‐of‐Care Ultrasound for Pediatric Tuberculosis in Spain: A Prospective Observational Study

open access: yesJournal of Clinical Ultrasound, EarlyView.
In children with presumptive tuberculosis, comprehensive point‐of‐care (cPOCUS) identified key thoracic abnormalities with high specificity and excellent inter‐reader reliability. Although diagnostic sensitivity was modest and examinations often incomplete, cPOCUS shows promise as a complementary, radiation‐free imaging tool.
Isabelle Munyangaju   +17 more
wiley   +1 more source

Breastfeeding-associated congenital syphilis in an infant of a seronegative mother: a case report

open access: yesZdorovʹe Rebenka
Syphilis, caused by Treponema pallidum, can be transmitted congenitally from mother to child during pregnancy, delivery, or even after birth. This case report presents an unusual manifestation: a 1-month and 25-day-old male infant diagnosed with ...
Samuel Sembor, Diah Ayu Pitaloka
doaj   +1 more source

Sarcoidosis presenting as granulomatous myositis in a 16-year-old adolescent [PDF]

open access: yes, 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

Itching for a diagnosis: Dysesthesias as an atypical presentation of Wilson disease in an adolescent—Case report

open access: yesJPGN Reports, EarlyView.
Abstract Wilson disease (WD) is an autosomal recessive disorder of hepatic copper metabolism with varied clinical presentations. We describe a 15‐year‐old male referred for elevated aminotransferases, burning facial pruritis, scalp dysesthesias, and chronic bilateral lower extremity edema.
Tierra L. R. Mosher   +2 more
wiley   +1 more source

Seronegative Antiphospholipid Syndrome: A Challenging Case Report

open access: yesClinical Case Reports
Seronegative antiphospholipid syndrome (SN‐APS) is uncommon and challenging condition, which should be included in the differential diagnosis of stroke in young, since it can result in arterial thrombosis.SN‐APS is typically diagnosed by exclusion ...
Eihab A. Subahi   +6 more
doaj   +1 more source

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