Objective:To assess the influence of extreme temperature events on the mortality risk of nervous system diseases in residents of Jiangsu Province and identify patients with nervous system diseases who are susceptible to extreme temperature events.Methods:Acase-crossover design was used to investigate the cumulative lagged effects of extreme temperature events on the mortality risk of nervous system disease in local residents by using the data on causes of death from nervous system diseases in Jiangsu from 2014 to 2020 with conditional logistic regression model. The final definition of extreme temperature events was established using Akaike information criterion. The heat wave was defined as 4 or more consecutive days with daily mean temperatures above the 92.5 th percentile of annual daily mean temperatures, and the cold spell was defined as 2 or more consecutive days with daily mean temperatures below the 10 th percentile of annual daily mean temperatures. Furthermore, stratified analyses was conducted to compare the effects of extreme temperature events on mortality risk in populations in different gender, age and marital status groups to identify susceptible populations to extreme temperature event. Results:Statistical results showed that the effect values of heat wave and cold spell on the mortality risk of nervous system diseases all peaked at the 7 th day of the cumulative lag, with OR of 1.60 (95% CI: 1.44-1.76) and 1.33 (95% CI: 1.13-1.56), respectively. Heat wave exposure increased mortality risk for individuals with Alzheimer's and Parkinson's diseases, while cold spell exposure increased the mortality risk for those with Alzheimer's disease. Stratified analyses showed that the mortality risk for nervous system disease and Alzheimer's disease was higher in partnerless population after heat wave exposure. Conclusions:Heat wave and cold spell were associated with increased mortality risks for nervous system disease, highlighting the need for improved early warning systems for extreme temperature event. In the context of heat wave, interventions to protect individuals with nervous system disease should prioritize partnerless population.

ObjectiveTo investigate the current landscape and hotspots on researches about treatment of prolonged disorder of consciousness (pDOC) in the recent five years, and forecast the trends. MethodsLiterature about treatment of pDOC was retrieved from the Web of Science Core Collection database, from January 1st, 2019, to June 7th, 2023. The data were analyzed with CiteSpace 5.8.R3 to create knowledge maps for authors, countries, institutions, keywords, references, co-cited authors and co-cited literature. ResultsA total of 411 articles were included. Aurore Thibaut was the most influential author, Belgium was the most influential country, and Harvard Medical School was the institution with the most publications. The researches focused on neuromodulation, prognostic assessment and care, and management of swallowing function. The neuromodulation techniques mainly included transcranial direct current stimulation, repetitive transcranial magnetic stimulation, deep brain stimulation and transcutaneous auricular vague nerve stimulation. In the coming years, the researches trended to explore neuromodulation and mechanisms of consciousness recovery, and the main neuromodulation techniques might be deep brain stimulation and transcutaneous auricular vague nerve stimulation. ConclusionThe researches about treatment of pDOC are increasing, mainly focusing on neuromodulation, prognostic evaluation, nursing care, and training for swallowing function. More researches would focus on neuromodulation and mechanisms for restoring consciousness.

At present, neuroimaging and neuroelectrophysiology are the main objective detection techniques of brain consciousness; and neuroimaging includes functional magnetic resonance imaging (fMRI) and functional near-infrared spectroscopy (fNIRS). As a new non-invasive optical neuroimaging technology, fNIRS has more application prospects than fMRI: it can clear the cerebral cortex activation in resting state or different task states, such as real movement, motor imagination, or mental arithmetic; it can not only assess the consciousness horizontally, but also evaluate the effect of rehabilitation therapy vertically. In this paper, the application status of fNIRS in assessing consciousness of disorder is reviewed to explore new technical evaluation means for disorder of consciousness.

Objective:To investigate and analyze the level of the gross radioactivity, and its variation trend, in surrounding drinking water since the second phase expansion project at Qinshan Nuclear Power Plant was officially put into operation.Methods:From 2010 to 2022, the source water, factory water and tap water within 30 km of Qinshan Nuclear Power Plant were collected in the flood season (May) and dry period (October) every year. The total α and total β radioactivity concentrations in drinking water was measured and analyzed. The levels of total radioactivity in drinking water around different nuclear power plants in China and around non-nuclear power plant areas was compared.Results:The mean radioactivity concentrations of total α and total β were (0.021±0.019) and (0.204±0.058) Bq/L in source water, (0.010±0.005) and (0.185±0.056) Bq/L in factory water , and (0.012±0.007) and (0.170±0.058) Bq/L in tap water, respectively, all lower than the limits stipulated in the Sanitary Standards for Drinking Water. There were no significant differences in the monitoring result of betweem the three types of water samples both in the flood and dry periods ( P> 0.05). The total radioactivity level in drinking water around Qinshan Nuclear Power Plant site was close to that in drinking water around different nuclear power plants in China and around areas without nuclear power plants. Conclusions:Following the second phase of the expansion project officially being put into operation, the total α and β radioactivity level in drinking water around the Qinshan Nuclear Power Plant has been in a stable trend and lower than the guidance level given in national standard.

Primary biliary cholangitis (PBC) is an autoimmune disease commonly observed in middle-aged women, and it may progress to liver cirrhosis and liver failure. Ursodeoxycholic acid and obeticholic acid are the only first - and second-line drugs approved by the FDA, but about 40% of patients are insensitive to UDCA. Studies are being conducted on a variety of second-line drugs such as fibrates and immunosuppressive drugs, and liver transplantation is the only treatment method for end-stage PBC. This article reviews the research advances in the treatment of PBC and related mechanisms, in order to provide a reference for clinical practice.

This paper aims to push health scientific popular knowledge and carry out targeted patient health education for certain patients, based on the demand of health education for specific diseases and population. Taking the female climacteric health scientific popularization as an example, the authors summarized the practice of popularizing scientific education in a tertiary specialized hospital based on the cognitive level and health education needs of outpatients and the general public. A multidisciplinary health scientific popularization team was set up to communicate popular science knowledge to patients and other menopausal women in need through multi-channel and multi-platform forms. Such means include online ones, offline ones, and cooperation with various social organizations. The implementation of health scientific popularization mode meets the needs of patients and the general public. The implementation of this mode of health popularization could improve their self-health management ability and health accomplishment. It provides a good reference for public hospitals to carry out health science popularization.

OBJECTIVE: To carry out prenatal diagnosis for a fetus with Pallister-killian syndrome (PKS). METHODS: The fetus was found to have limb malformations at 23rd gestational week. With informed consent from its parents, amniotic fluid sample was taken from the fetus and subjected to chromosomal karyotyping, chromosomal microarray analysis (CMA) and fluorescence in situ hybridization (FISH) assay. RESULTS: G-banding analysis suggested the fetus has a mos47,XY,+mar[55]/46,XY[10] karyotype. CMA analysis of the cultured amniocytes with CytoScan 750K microarray revealed a segmental tetrasomy duplication of 12p13.33p11.1. FISH confirmed a 70% mosaicism of tetrasomy 12p in the metaphase amniocytes with 12pter/12qter probes. CONCLUSION Combined use of G-banding karyotyping, CMA and FISH analysis has enabled diagnosis of PKS in the fetus. Although short limb is a common feature of PKS, unequal femur length has not been reported previously, which has expanded the spectrum of PKS-associated limb abnormalities.
Chromosome Disorders/genetics* ; Chromosomes, Human, Pair 12/genetics* ; Female ; Fetus ; Humans ; In Situ Hybridization, Fluorescence ; Mosaicism ; Pregnancy ; Prenatal Diagnosis

Objective: To evaluate the application of combinatorial probe anchor synthesis (cPAS)-based high-throughput low coverage whole genome sequencing in chromosomal aberration detection in spontaneous miscarriage. Methods: From September 2015 to May 2017, spontaneous miscarriage samples were collected from Inner Mongolia Maternal and Child Health Care Hospital. Those samples were further analyzed with two independent methods, fluorescence in situ hybridization (FISH) and low coverage whole genome sequencing on the BGISEQ-500 high-throughput platform. The performance of low coverage whole genome sequencing was assessed by comparing to FISH results. Results: In 595 spontaneous miscarried specimens, low coverage whole genome sequencing revealed 144 cases (24.2%, 144/595) chromosomal abnormalities, of which a subset of 137 cases (23.0%, 137/595) were detected as aneuploidies, 2 cases (0.3%, 2/595) as mosaicisms and 5 cases (0.8%, 5/595) as copy number variation (≥5 Mb). Conclusion cPAS-based high-throughput low coverage whole genome sequencing is a reliable method in detecting chromosomal aberrations inspontaneous abortion tissues, including chromosome aneuploidies, mosaicisms and copy number variation (≥5 Mb).

Objective To evaluate the application of combinatorial probe anchor synthesis (cPAS)?based high?throughput low coverage whole genome sequencing in chromosomal aberration detection in spontaneous miscarriage. Methods From September 2015 to May 2017, spontaneous miscarriage samples were collected from Inner Mongolia Maternal and Child Health Care Hospital. Those samples were further analyzed with two independent methods, fluorescence in situ hybridization (FISH) and low coverage whole genome sequencing on the BGISEQ?500 high?throughput platform. The performance of low coverage whole genome sequencing was assessed by comparing to FISH results. Results In 595 spontaneous miscarried specimens, low coverage whole genome sequencing revealed 144 cases (24.2%, 144/595) chromosomal abnormalities, of which a subset of 137 cases (23.0%, 137/595) were detected as aneuploidies, 2 cases (0.3%, 2/595) as mosaicisms and 5 cases (0.8%, 5/595) as copy number variation (≥5 Mb). Conclusion cPAS?based high?throughput low coverage whole genome sequencing is a reliable method in detecting chromosomal aberrations inspontaneous abortion tissues, including chromosome aneuploidies, mosaicisms and copy number variation (≥5 Mb).

OBJECTIVE: To identify pathogenic mutation in a pedigree affected with brachydactyly and obesity. METHODS: Peripheral blood sample was collected for extraction of genomic DNA. Exons capture combined with next generation sequencing (NGS) was carried out to identify potential mutation. Sanger sequencing was used to verify the results. RESULTS: NGS has identified a novel heterozygous missense mutation (c.125A>C, p.Gln42Pro) in the exon 1 of PTHLH gene. The result was verified by Sanger sequencing. The mutations was derived from his mother. His uncle and sister have also carried the same heterozygous mutation. CONCLUSION A novel mutation of the PTHLH gene has been identified in a pedigree affected with brachydactyly type E2 and obesity.
Brachydactyly ; complications ; DNA Mutational Analysis ; Humans ; Mutation ; Obesity ; complications ; Pedigree