Two patients with Marinesco-Sjögren syndrome in a family were characterized by autosomal recessive inheritance, congenital cataract, cerebellar ataxia, mental retardation, short stature and variable skeletal abnormalities. Muscle biopsy specimens showed replacement of muscle fibers by fat and fibrous tissue, a marked variation of fiber size and a rimmed vacuole formation. Nerve biopsy specimens showed a reduced number of myelinated nerve fibers in the sural nerves. Muscle CT revealed atrophy of the quadriceps femoris, semitendinosus, gastrocnemius and soleus muscles. Accordingly, extensor muscles in the thighs were more preferentially involved than flexor muscles in the legs.
Download full-text PDF |
Source |
|---|
Publication Analysis
Top Keywords
Similar Publications
The impact of updated imaging software on the performance of machine learning models for breast cancer diagnosis: a multi-center, retrospective study.
Arch Gynecol Obstet
January 2025
Department of Obstetrics and Gynecology, Breast Cancer Center, Heidelberg University Hospital, Im Neuenheimer Feld 440, 69120, Heidelberg, Germany.
Purpose: Artificial Intelligence models based on medical (imaging) data are increasingly developed. However, the imaging software on which the original data is generated is frequently updated. The impact of updated imaging software on the performance of AI models is unclear.
View Article and Find Full Text PDFA high-resolution view of the immune and stromal cell response to infection in human volunteers.
mBio
January 2025
Department of Medical and Molecular Genetics and Center for Computational Biology and Bioinformatics, Indiana University School of Medicine, Indianapolis, Indiana, USA.
causes the genital ulcer disease chancroid and cutaneous ulcers in children. To study its pathogenesis, we developed a human challenge model in which we infect the skin on the upper arm of human volunteers with to the pustular stage of disease. The model has been used to define lesional architecture, describe the immune infiltrate into the infected sites using flow cytometry, and explore the molecular basis of the immune response using bulk RNA-seq.
View Article and Find Full Text PDFImmunohistochemical Expression of HBME-1 in a Spectrum of Thyroid Neoplasms.
Indian J Endocrinol Metab
October 2024
Department of Pathology, MGM Medical College, Navi Mumbai, Maharashtra, India.
Introduction: Thyroid neoplasms are the most common malignancy of the endocrine system, representing 3.8% of new cancer cases, and it is the ninth most common cancer overall. The immuno-histochemical marker Hector Battifora Mesotheilial-1 (HBME-1) is a monoclonal antibody that now finds its diagnostic utility as a positive marker for well-differentiated thyroid carcinomas.
View Article and Find Full Text PDFIntroducing Diagnostic Testing for Chronic Myeloid Leukemia in a Public Hospital Setting in Western Kenya.
Arch Pathol Lab Med
January 2025
the Department of Medical and Molecular Genetics, Indiana University School of Medicine, Indianapolis (Stohler, Vance).
Context.—: Chronic myeloid leukemia (CML) is a myeloproliferative disorder characterized by proliferation of the granulocytic cell line. The incidence of CML in Kenya is estimated at near 2000 cases annually.
View Article and Find Full Text PDFEstablishment of a human ovarian endometrioid carcinoma cell line by constitutive expression of cyclin-dependent kinase 4, cyclin D1 and telomerase reverse transcriptase.
Hum Cell
January 2025
Department of Tumor Pathology, Faculty of Medical Sciences, University of Fukui, 23-3 Matsuoka-Shimoaizuki, Eiheiji, Fukui, 910-1193, Japan.
Only a few human ovarian endometrioid carcinoma cell lines are currently available, partly due to the difficulty of establishing cell lines from low-grade cancers. Here, using a cell immortalization strategy consisting of i) inactivation of the p16-pRb pathway by constitutive expression of mutant cyclin-dependent kinase 4 (R24C) (CDK4) and cyclin D1, and ii) acquisition of telomerase reverse transcriptase (TERT) activity, we established a human ovarian endometrioid carcinoma cell line from a 46-year-old Japanese woman. That line, designated JFE-21, has proliferated continuously for over 6 months with a doubling time of ~ 55 h.
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!