Results 101 to 110 of about 20,564 (250)

Case of the month [PDF]

open access: yes, 2010
This is a case of partially-treated, community acquired pneumonia (CAP), presenting with severe complications of parapneumonic effusion, empyema, hemolytic anemia and pancytopenia.
Buddineni, Jaya
core   +3 more sources

Cytophagic histiocytic panniculitis: Report of two cases

open access: yesIndian Journal of Dermatology, 2011
Cytophagic histiocytic panniculitis (CHP) was first described in 1980 by Winkelmann as a chronic histiocytic disease of the subcutaneous adipose tissue, which is characterized clinically by tender erythematous nodules, recurrent high fever, malaise ...
Jayasree Manoj   +3 more
doaj   +1 more source

Natural‐History Mapping of Lysosomal Storage Disorders (LSDs): Gaucher Disease as a Model for Precision Care

open access: yesJournal of Inherited Metabolic Disease, Volume 49, Issue 1, January 2026.
ABSTRACT Natural‐history datasets have become pivotal for drug development and for shaping clinical‐practice guidelines in rare diseases, yet many lysosomal storage disorders would benefit from deep phenotyping and modern analytic methods. Our objective was to integrate the past decade of genomic, cellular, treatment‐outcome, and regulatory advances ...
Noor Ul Ain   +2 more
wiley   +1 more source

From Molecule to Meaning: Neuronopathic Biomarkers and Clinical Relevance in GM1

open access: yesJournal of Inherited Metabolic Disease, Volume 49, Issue 1, January 2026.
ABSTRACT GM1 gangliosidosis is a rare, progressively neurodegenerative lysosomal storage disorder characterized by profound central nervous system involvement and substantial clinical heterogeneity. The development of reliable biomarkers is essential for tracking disease progression, stratifying patients, and advancing clinical trial readiness. Primary
Krista Casazza   +3 more
wiley   +1 more source

Non-POEMS osteosclerotic multiple myeloma: Clinical characteristics and differential diagnosis

open access: yesJournal of Bone Oncology
Osteosclerosis in multiple myeloma (MM) is typically associated with rare POEMS syndrome, characterized by polyneuropathy (P), organomegaly (O), endocrinopathy (E), M-protein (M), and skin changes (S).
Zi-Yan Li   +5 more
doaj   +1 more source

Clinical Utility of Serum Neurofilament Light Chain in Peripheral Neuropathy

open access: yesMuscle &Nerve, Volume 73, Issue 1, Page 86-92, January 2026.
ABSTRACT Introductions/Aims The clinical utility of serum neurofilament light chain (sNfL) in the evaluation and management of peripheral neuropathy (PN) remains poorly defined. This study aimed to evaluate the utility of sNfL for diagnosing PN, assessing disease activity, and monitoring treatment response using a commercially available assay.
Chafic Karam
wiley   +1 more source

Pulmonary Tuberculosis with ARDS and Hemophagocytic Syndrome - A case report

open access: yesJournal of Pediatric Critical Care, 2014
Hemophagocytic lymphohistiocytosis(HLH) is a heterogeneous group of clinical syndromes, either familial or genetic in origin or secondary, characterised by uncontrolled non-malignant proliferation of Tlymphocytes, histiocytes and macrophages leading to a
Prabhas Prasun Giri   +3 more
doaj   +1 more source

Você Conhece Esta Síndrome? [PDF]

open access: yes, 2013
POEMS syndrome is a unique clinical entity, the diagnosis of which is made when polyneuropathy and monoclonal gammopathy occur together, associated with other changes such as organomegaly, endocrinopathy, skin changes and papilledema.
João, A, Lestre, S, Santos, G
core  

Specific Subjective Symptoms for Gastroesophageal Reflux Disease in Ulcer Like Dyspepsia [PDF]

open access: yes, 2004
Background: The Aim of study is to identify specific subjective symptoms for gastroesophageal reflux disease (GERD), GERD proportion in ulcer like dyspepsia and the correlation between specific subjective symptoms for GERD and endoscopic examination ...
Andrijani, P. K. (Poerniati)   +3 more
core   +1 more source

Human Brucellosis Presenting with Rheumatic Manifestations: An Underdiagnosed Condition in Eastern India

open access: yesJournal of Global Infectious Diseases
Human brucellosis is a chronic systemic infection mostly presenting as afebrile illness with musculoskeletal complaints with organomegaly and diagnosis is based on serology.
Saurabh Pandey   +6 more
doaj   +1 more source

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