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Concomitant Waldenström Macroglobulinemia/Lymphoplasmacytic Lymphoma and Non-Immunoglobulin M Plasma Cell Neoplasm.
Arch Pathol Lab Med
January 2025
the Department of Pathology, Keck School of Medicine, University of Southern California, Los Angeles (Petersen, Stuart, He, Ju, Ghezavati, Siddiqi, Wang).
Context.—: The co-occurrence of plasma cell neoplasm (PCN) and lymphoplasmacytic lymphoma (LPL) is rare, and their clonal relationship remains unclear.
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Keyhole decompression surgery for holospinal epidural abscess: a novel approach for spinal stability preservation.
Eur Spine J
January 2025
Department of Orthopaedic Surgery, Graduate School of Medicine, Chiba University, 1-8-1 Inohana, Chuo-ku, Chiba, 260-8670, Japan.
Purpose: Spinal epidural abscesses are rare yet serious conditions, often necessitating emergency surgical intervention. Holospinal epidural abscesses (HEA) extending from the cervical to the lumbosacral spine are even rarer and present significant challenges in management. This report aims to describe a case of HEA with both ventrally-located cervical and dorsally-located thoracolumbar epidural abscesses treated with a combination of anterior keyhole decompression and posterior skip decompression surgeries.
View Article and Find Full Text PDFValidation of a hypomorphic variant in CDK13 as the cause of CHDFIDD with autosomal recessive inheritance through determination of an episignature.
Clin Epigenetics
January 2025
Faculty of Medicine of TUD Dresden University of Technology, Institute for Clinical Genetics, University Hospital Carl Gustav Carus at TUD Dresden University of Technology, Dresden, Germany.
Autosomal dominant CDK13-related disease is characterized by congenital heart defects, dysmorphic facial features, and intellectual developmental disorder (CHDFIDD). Heterozygous pathogenic variants, particularly missense variants in the kinase domain, have previously been described as disease causing. Using the determination of a methylation pattern and comparison with an established episignature, we reveal the first hypomorphic variant in the kinase domain of CDK13, leading to a never before described autosomal recessive form of CHDFIDD in a boy with characteristic features.
View Article and Find Full Text PDFBackground: Vaginal atresia (VA) is a rare female genital tract malformation characterized by the absence or incomplete development of the vagina, often leading to cyclic abdominal pain and menstrual blood retention in adolescent patients. Vaginal atresia is often accompanied by multiple organ malformations. The condition poses significant challenges in diagnosis and management, requiring a multidisciplinary approach.
View Article and Find Full Text PDFPrenatally diagnosed intracranial hemorrhage in the fetus is associated with a wide range of neonatal disorders, from completely uncomplicated physiological development to severe neurological impairment or death. The incidence is 0.6-1/1,000 births.
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