Case reports are an increasing source of evidence in clinical medicine. Until a few years ago, such case reports were emerged into systematic reviews and nowadays they are often fitted to the development of clinical (thinking) models. We describe this modern progress of knowledge creation by the example of the trigeminocardiac reflex that was first described in 1999 by a case series and was developed over the cause-and-effect relationship, triangulation to systematic reviews and finally to thinking models. Therefore, this editorial not only underlines the increasing and outstanding importance of (unique) case reports in current science, but also in current clinical decision-making and therefore also that of specific journals like the Journal of Medical Case Reports.
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http://dx.doi.org/10.1186/s13256-016-0849-z | DOI Listing |
Am J Case Rep
December 2024
Department of Molecular Medicine and Surgery, Center for Molecular Medicine, Karolinska Institute, Stockholm, Sweden.
BACKGROUND Limb-girdle muscular dystrophy recessive 1 (LGMDR1) is an autosomal recessive degenerative muscle disorder characterized by progressive muscular weakness caused by pathogenic variants in the CAPN3 gene. Desmoplastic small round cell tumors (DSRCT) are ultra-rare and aggressive soft tissue sarcomas usually in the abdominal cavity, molecularly characterized by the presence of a EWSR1::WT1 fusion transcript. Mouse models of muscular dystrophy, including LGMDR1, present an increased risk of soft tissue sarcomas.
View Article and Find Full Text PDFJ Med Case Rep
December 2024
Faculty of Medicine, Al-Quds University, Jerusalem, Palestine.
Background: Evans syndrome is a rare disorder characterized by the simultaneous or sequential combination of autoimmune hemolytic anemia and immunological thrombocytopenia, together with a positive direct antiglobulin test. This syndrome, which can be primary or secondary, is a rare initial manifestation of autoimmune diseases, notably systemic lupus erythematosus, with 1.7-2.
View Article and Find Full Text PDFJ Med Case Rep
December 2024
Division of Infectious Diseases, Denver Health Medical Center, Denver, CO, USA.
Background: Leprosy (Hansen's disease) is an infectious disease most common in resource-limited countries caused by the acid-fast bacilli Mycobacterium leprae and Mycobacterium lepromatosis that frequently affects the skin and peripheral nerves. Prompt diagnosis and treatment with multidrug therapy is crucial to reduce disease transmission and sequelae, which include nerve function impairment, ocular injury, and stigmatizing physical deformities. Traditional treatment of multibacillary leprosy consists of 12-24 months of multidrug therapy with dapsone, rifampin, and clofazimine.
View Article and Find Full Text PDFPediatr Rheumatol Online J
December 2024
Translational Genetics Research Group, La Fe Health Research Institute (IIS La Fe), Avenida Fernando Abril Martorell nº 106 Tower A, 7th Floor, Valencia, Spain.
Background: Aicardi-Goutières Syndrome is a monogenic type 1 interferonopathy with infantile onset, characterized by a variable degree of neurological damage. Approximately 7% of Aicardi-Goutières Syndrome cases are caused by pathogenic variants in the ADAR gene and are classified as Aicardi-Goutières Syndrome type 6. Here, we present a new homozygous pathogenic variant in the ADAR gene.
View Article and Find Full Text PDFDiagn Pathol
December 2024
Department of Microbiology, Queen Mary Hospital, Pokfulam, Hong Kong Special Administrative Region, China.
Hormographiella aspergillata is a rare hyaline mold causing invasive fungal infection in humans, until the frequent use of antifungal prophylaxis in immunocompromised hosts. Due to the high mortality of H. aspergillata infection, early recognition and treatment are crucial.
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