Download full-text PDF |
Source |
|---|
Publication Analysis
Top Keywords
Similar Publications
Clinicopathological collaboration in adult muscle disease: a pragmatic pathway to approach diagnostic dilemmas.
Pathology
November 2024
Oxford Neuromuscular Centre, Department of Neurology, John Radcliffe Hospital, Oxford, UK. Electronic address:
The role of muscle biopsy in the investigation of neuromuscular disease remains firmly established but has evolved. Expertise in diagnostic myopathology remains relevant and supports clinical practice. Neuromuscular disease is rare; thus clinicopathological correlation, or better, collaboration is important.
View Article and Find Full Text PDFCase Report: Diffuse cerebral lymphomatosis with superimposed multifocal primary CNS lymphoma.
Front Radiol
November 2024
Department of Radiology, UC San Diego, San Diego, CA, United States.
Description: Cerebral lymphomatosis (CL) is a rare subtype of primary central nervous system lymphoma (PCNSL). In CL, atypical lymphoid cells diffusely infiltrate the cerebral parenchyma without forming a discrete mass as seen with PCNSL. We report a case of a 66-year-old woman with diffuse CL and superimposed areas of PCNSL.
View Article and Find Full Text PDF[Clinical characterisation of creatine transporter deficiency associated with SLC6A8 gene variants].
Zhonghua Er Ke Za Zhi
December 2024
Department of Neurology, Neurological Center, Beijing Children's Hospital, Capital Medical University, National Center for Children's Health, Beijing100045, China.
To analyze the clinical features of creatine transporter(CRTR) deficiency associated with SLC6A8 gene variants. The clinical data (clinical presentation, brain imaging, creatine metabolism test and gene variants) of 5 patients admitted to Beijing Children's Hospital, Capital Medical University and diagnosed with CRTR deficiency associated with SLC6A8 gene variants from January 2016 to June 2024 were retrospectively analyzed. A total of 5 patients, all male, presented with the onset of the disease at 1 year and 1 month old to 1 year and 10 months old, and diagnosis at 1 year and 3 months to 9 years old.
View Article and Find Full Text PDFAtypical presentation of anti-small ubiquitin-like modifier 1 and melanoma differentiation-associated gene 5 antibody positive dermatomyositis presenting with significant inflammatory myopathy on biopsy and normal creatine kinase levels: A case report.
SAGE Open Med Case Rep
November 2024
Department of Rheumatology, University of California San Francisco Fresno, Fresno, CA, USA.
Article Synopsis
- Idiopathic inflammatory myopathies involve chronic inflammation of skeletal muscle and include subtypes like dermatomyositis, polymyositis, and necrotizing autoimmune myopathies.
- A 19-year-old female case highlights an atypical presentation of dermatomyositis, where she exhibited classic symptoms but had normal creatinine kinase levels and severe inflammatory myopathy on biopsy.
- This case illustrates the need to rely on comprehensive clinical evaluations, as laboratory results may not always align with a patient's physical presentation.
Role of Cariprazine in Managing and Preventing Refractory Catatonia: A Case Study.
Cureus
September 2024
Psychiatry, Shahid Hemn Mental Hospital, Sulaimanyah, IRQ.
This case study explores the management of a 22-year-old male patient diagnosed with recurrent refractory catatonia, a neuropsychiatric condition characterized by motor, behavioral, and autonomic disturbances often associated with bipolar disorder. Despite comprehensive investigations, including normal results in tests such as complete blood count (CBC), liver function tests (LFT), thyroid function tests (TFT), renal function tests (RFT), C-reactive protein (CRP), creatine kinase (CKP), and serum electrolytes, the patient's condition persisted. Initial treatments with conventional therapies, such as benzodiazepines, proved unsuccessful.
View Article and Find Full Text PDFWant AI Summaries of new PubMed Abstracts delivered to your In-box?
Enter search terms and have AI summaries delivered each week - change queries or unsubscribe any time!