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| http://dx.doi.org/10.46234/ccdcw2021.051 | DOI Listing |
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Cerebellar infarction due to atlantoaxial subluxation in spondyloepimetaphyseal dysplasia-joint laxity type 1 case.
Clin Dysmorphol
December 2024
Department of Pediatric Genetics.
Introduction: Spondyloepimetaphyseal dysplasia with joint laxity type 1 (SEMD-JL1) is an extremely rare skeletal dysplasia belonging to a group of disorders called linkeropathies. It is characterized by skeletal and connective tissue abnormalities. Biallelic variants in genes encoding enzymes that synthesize the tetrasaccharide linker region of glycosaminoglycans lead to linkeropathies, which exhibit clinical and phenotypic features that overlap with each other.
View Article and Find Full Text PDFPerforating ENL: A variant of type 2 lepra reaction.
J Clin Tuberc Other Mycobact Dis
February 2025
Department of Dermatology, Venereology and Leprosy, Jawaharlal Nehru Medical College, Datta Meghe Institute of Higher Education and Research, Wardha, Maharashtra, India.
Lepra reactions are acute episodic inflammatory reactions that occur during illness due to abrupt changes in the body's immunological response against Mycobacterium leprae. These are of two types, type 1 and type 2. Type 2 reaction is also called Erythema Nodosum Leprosum (ENL).
View Article and Find Full Text PDFClinical spectrum of adult-onset leukoencephalopathy with axonal spheroids and pigmented glia in individuals of Korean ancestry.
Sci Rep
January 2025
Department of Neurology, Neuroscience Center, Samsung Medical Center, Sungkyunkwan University School of Medicine, 81 Irwon-ro, Gangnam-gu, Seoul, 06351, Korea.
Adult-onset leukoencephalopathy with axonal spheroids and pigmented glia (ALSP) is a rare white matter disease characterized by axonal and glial injury. Although its clinical characteristics have been described in case reports, the prevalence of CSF1R mutations in clinically suspected ALSP cases remains unclear. Herein, we analysed the frequency of CSF1R mutations in patients with probable or possible ALSP and describe the genetic, clinical, radiological, and pathological findings of ALSP cases in individuals of Korean ancestry.
View Article and Find Full Text PDFThe known genetic variants of BRCA1, BRCA2 and NOD2 in pancreatitis and pancreatic cancer risk assessment.
Sci Rep
January 2025
Institute of Medical Sciences, Jan Kochanowski University of Kielce, Kielce, Poland.
The single nucleotide polymorphism in NOD2 (rs2066847) is associated with conditions that may predispose to the development of gastrointestinal disorders, as well as the known BRCA1 and BRCA2 variants classified as risk factors in many cancers. In our study, we analyzed these variants in a group of patients with pancreatitis and pancreatic cancer to clarify their role in pancreatic disease development. The DNA was isolated from whole blood samples of 553 patients with pancreatitis, 83 patients with pancreatic cancer, 44 cases of other pancreatic diseases, and 116 healthy volunteers.
View Article and Find Full Text PDFCoalescence characteristics of free-living and particle-attached bacteria in a cascade river-reservoir system: A case study of the Jinsha River.
J Environ Manage
January 2025
State Key Laboratory of Hydraulics and Mountain River Engineering, Sichuan University, Chengdu, 610065, China.
Microbial coalescence plays a crucial role in shaping aquatic ecosystems by facilitating the merging of neighboring microbial communities, thereby influencing ecosystem structure. Although this phenomenon is commonly observed in natural environments, comprehensive quantitative comparative studies on different lifestyle bacteria involved in this process are still lacking. The study focuses on 16S rRNA Amplicon Sequence Variants (ASVs) at the Jinsha River hydropower stations (Wudongde [WDD], Baihetan [BHT], Xiluodu [XLD], Xiangjiaba [XJB]), specifically examining free-living (FL) and particle-attached (PA) bacteria.
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