Purpose: Dyschromatosis symmetrica hereditaria (DSH) is a rare autosomal dominant inherited pigmentary dermatosis. The gene responsible for DSH has been identified as adenosine deaminase acting on RNA1 (). This study aimed to identify the causative variants in the gene in three Chinese families with DSH.
Patients And Methods: Data and blood samples were collected from three Chinese families with DSH. Whole-exome and Sanger sequencing were performed to detect pathogenic gene mutation in the patients. Bioinformatics tools were used to predict the pathogenicity of the variants.
Results: Four heterozygous variants were identified, including two novel missense variants c.2369G>C (Arg790Pro), and 503C>T (Pro168Leu), and two previously reported variants: c.3232C>T(R1078C), and c.1472C>G (p.S491X). The novel c.503C>T variant was predicted as "deleterious" (score =-2.704) by PROVEAN, and "probably damaging" (score = 1) by PolyPhen2. The other novel variant c.2369G>C was also predicted as "deleterious" (score =-4.167) by PROVEAN, "probably damaging" (score = 1) by PolyPhen2, and "disease-causing" (p = 0.999) by Mutation Taster.
Conclusion: Two novel variants were found in Chinese patients with DSH. This research has expanded the gene database for DSH, enhancing our comprehension of the underlying mechanisms.
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http://dx.doi.org/10.2147/CCID.S477138 | DOI Listing |
Arch Public Health
December 2024
Panzhihua Central Hospital, Panzhihua, China.
Background: At present, China's elderly population is facing several difficulties. The implementation of active aging is an important initiative in the face of the rapidly developing situation of population aging, among which improving elderly expectations regarding the aging level is the key link to achieving active aging. Improving the quality of life of the majority of elderly individuals is the main goal of active aging.
View Article and Find Full Text PDFAnim Microbiome
December 2024
School of Global Health, Chinese Center for Tropical Diseases Research, Shanghai Jiao Tong University School of Medicine, Shanghai, China.
Background: Dogs-whether pets, rural, or stray-exhibit distinct living styles that influence their fecal microbiota and resistomes, yet these dynamics remain underexplored. This study aimed to analyze and compare the fecal microbiota and resistomes of three groups of dogs (37 pets, 20 rural, and 25 stray dogs) in Shanghai, China.
Results: Metagenomic analysis revealed substantial differences in fecal microbial composition and metabolic activities among the dog groups.
J Orthop Surg Res
December 2024
Foot and Ankle Surgery Center, Beijing Tongren Hospital, Capital Medical University, Beijing, 100176, China.
Background: The foot is an essential organ for human locomotion. Assessment of plantar pressure distribution could provide key clinical information on foot functions. However, the mechanism that links body mass index to injury is not clear.
View Article and Find Full Text PDFJ Orthop Surg Res
December 2024
Teaching and Research Section of Clinical Nursing, Xiangya Hospital of Central South University, 87 Xiangya Road, Kaifu District, Changsha, Hunan Province, China.
Objectives: This study aims to identify predictors of knee osteoarthritis (KOA) risk in middle-aged population, construct and validate a nomogram for KOA in this demographic.
Methods: From June to December 2020, we conducted a cross-sectional survey on 5,527 middle-aged individuals from Changsha and Zhangjiajie cities in Hunan Province, selected using a stratified multi-stage random sampling method. Data collection involved a structured questionnaire encompassing general demographic, physical condition, and lifestyle behaviors dimensions.
Transl Neurodegener
December 2024
Department of Pharmacy, The First Affiliated Hospital of China Medical University, Shenyang, 110001, China.
Inflammasomes represent a crucial component of the innate immune system, which respond to threats by recognizing different molecules. These are known as pathogen-associated molecular patterns (PAMPs) or host-derived damage-associated molecular patterns (DAMPs). In neurodegenerative diseases and neuroinflammation, the accumulation of misfolded proteins, such as beta-amyloid and alpha-synuclein, can lead to inflammasome activation, resulting in the release of interleukin (IL)-1β and IL-18.
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