We report the case of an adult patient with a focus of meningioencephalitis in whom the earliest magnetic resonance imaging (MRI) manifestation was hyperintense signal on diffusion-weighted (DW) sequence only. To our knowledge, this is the first adult encephalitis case to be reported with the MRI diffusion-weighted pulse sequence being the only positive MRI finding. A brief review of the pertinent literature is included.
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http://dx.doi.org/10.1016/s0899-7071(03)00003-2 | DOI Listing |
Clin Exp Dermatol
January 2025
St John's Institute of Dermatology, Guy's and St Thomas' NHS Foundation Trust, London, UK.
Background: In recessive dystrophic epidermolysis bullosa (RDEB), complications like oesophageal strictures, hand contractures, cardiomyopathy and cutaneous squamous cell carcinoma (SCC) may develop, necessitating procedures such as oesophageal dilatation (OD), gastrostomy tube placement and hand surgery.
Objectives: To determine prevalence and age of onset of milestone events by RDEB subtype, specifically dysphagia, first OD, first gastrostomy tube, first hand surgery, cardiomyopathy, first SCC and death.
Methods: The Prospective Epidermolysis Bullosa Longitudinal Evaluation Study (PEBLES) is a register study of individuals with RDEB which records comprehensive EB- and non-EB-related health information.
Georgian Med News
November 2024
Juvenile scleroderma (JS) is a rare chronic connective tissue disorder characterized by stiffening of the skin and soft tissues, including the oral cavity and perioral tissues, leading to fibrosis and a large spectrum of internal organs involvement, cosmetic defects, and early infant disability. The aim of this study was to investigate the histomorphological features of lesions of oral mucosa tissues in children with juvenile scleroderma (JS). 39 JS patients (9 with juvenile systemic sclerosis - JSS and 20 with juvenile scleroderma of head-JSH aged from 5 to 17 years were observed with dental examination and morphological investigation of the dental mucosa.
View Article and Find Full Text PDFNat Med
January 2025
Huntington's Disease Centre, Department of Neurodegenerative Disease, UCL Queen Square Institute of Neurology, University College London, London, UK.
Huntington's disease (HD) is an autosomal dominant neurodegenerative disease with the age at which characteristic symptoms manifest strongly influenced by inherited HTT CAG length. Somatic CAG expansion occurs throughout life and understanding the impact of somatic expansion on neurodegeneration is key to developing therapeutic targets. In 57 HD gene expanded (HDGE) individuals, ~23 years before their predicted clinical motor diagnosis, no significant decline in clinical, cognitive or neuropsychiatric function was observed over 4.
View Article and Find Full Text PDFS D Med
November 2024
Sanford Orthopedics and Sports Medicine, Sioux Falls, South Dakota.
Amyloidosis is a deadly systemic disease in which misfolded proteins accumulate in human tissue eventually leading to morbid dysfunction in multiple organ systems. The prognosis of untreated amyloidosis is poor. Orthopedic manifestations of amyloidosis include carpal tunnel syndrome (CTS), trigger digit, distal biceps tendon rupture, rotator cuff disease, and lumbar spinal stenosis.
View Article and Find Full Text PDFThromb Haemost
January 2025
Union Hospital of Huazhong University of Science & Technology, Institute of Hematology, Wuhan, China.
Objective To investigate the classification, clinical manifestations, laboratory findings, and genetic mutations associated with hereditary fibrinogen disorders in Chinese population. Methods Between February 2015 and February 2022, 65 patients with congenital fibrinogen disorders (CFD) were identified at Wuhan Union Hospital. Comprehensive data were available for 51 patients, allowing for a retrospective analysis.
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