Clinical and molecular insights into A97S variants in hereditary transthyretin amyloid polyneuropathy in South China.

Objective: This study aims to delineate the clinical profiles of the hereditary transthyretin amyloid polyneuropathy (ATTRv-PN) patients with A97S variant from southern China and the molecular characteristics of this mutant protein.

Methods: Fifteen ATTRv-PN patients with heterozygous A97S and one patient with homozygous A97S were included in the study. Serum TTR tetramer concentration was quantified through ultra-performance liquid chromatography.

Genotype-phenotype correlations of AR-CMT2S in a cohort of axonal Charcot-Marie-Tooth patients from Central South China.

Background And Aims: This study aimed to report nine Charcot-Marie-Tooth disease (CMT) families with six novel IGHMBP2 mutations in our CMT2 cohort and to summarize the genetic and clinical features of all AR-CMT2S patients reported worldwide.

Methods: General information, clinical and neurophysiological data of 275 axonal CMT families were collected. Genetic screening was performed by inherited peripheral neuropathy related genes panel or whole exome sequencing.

Clinical and molecular genetic characteristics of 24 families of hereditary neuropathy with liability to pressure palsy and literature review.

Objectives: Hereditary neuropathy with liability to pressure palsy (HNPP) is a rare autosomal dominant peripheral neuropathy, usually caused by heterozygous deletion mutations in the peripheral myelin protein 22 () gene. This study aims to investigate the clinical and molecular genetic characteristics of HNPP.

Methods: HNPP patients in the Department of Neurology at Third Xiangya Hospital of Central South University from 2009 to 2023 were included in this study.

Phenotype-driven reanalysis reveals five novel pathogenic variants in 40 exome-negative families with Charcot-Marie-Tooth Disease.

Background: To identify genetic causes in 40 whole exome sequencing (WES)-negative Charcot-Marie-Tooth (CMT) families and provide a summary of the clinical and genetic features of the diagnosed patients.

Methods: The clinical information and sequencing data of 40 WES-negative families out of 131 CMT families were collected, and phenotype-driven reanalysis was conducted using the Exomiser software.

Results: The molecular diagnosis was regained in 4 families, increasing the overall diagnosis rate by 3.

Expanding the genetic and clinical spectrum of SORD-related peripheral neuropathy by reporting a novel variant c.210T>G and evidence of subclinical muscle involvement.

Background And Aims: Biallelic variants in the sorbitol dehydrogenase (SORD) gene have been identified as the genetic cause of autosomal recessive (AR) peripheral neuropathy (PN) manifesting as Charcot-Marie-Tooth disease type 2 (CMT2) or distal hereditary motor neuropathy (dHMN). We aim to observe the genetic and clinical spectrum of a cohort of patients with SORD-related PN (SORD-PN).

Methods: A total of 107 patients with AR or sporadic CMT2/dHMN underwent molecular diagnosis by whole-exome sequencing and subsequent Sanger sequencing validation.

The genetic and clinical spectrum in a cohort of 39 families with complex inherited peripheral neuropathies.

With complicated conditions and a large number of potentially causative genes, the diagnosis of a patient with complex inherited peripheral neuropathies (IPNs) is challenging. To provide an overview of the genetic and clinical features of 39 families with complex IPNs from central south China and to optimize the molecular diagnosis approach to this group of heterogeneous diseases, a total of 39 index patients from unrelated families were enrolled, and detailed clinical data were collected. TTR Sanger sequencing, hereditary spastic paraplegia (HSP) gene panel, and dynamic mutation detection in spinocerebellar ataxia (SCAs) were performed according to the respective additional clinical features.

Genotype-phenotype characteristics and baseline natural history of Chinese myelin protein zero gene related neuropathy patients.

Background And Purpose: The aim was to characterize the phenotypic and genotypic features of myelin protein zero (MPZ) related neuropathy and provide baseline data for longitudinal natural history studies or drug clinical trials.

Method: Clinical, neurophysiological and genetic data of 37 neuropathy patients with MPZ mutations were retrospectively collected.

Results: Nineteen different MPZ mutations in 23 unrelated neuropathy families were detected, and the frequency of MPZ mutations was 5.

Clinical and genetic features of Charcot-Marie-Tooth disease patients with IGHMBP2 mutations.

Autosomal recessive Charcot-Marie-Tooth disease Type 2S (AR-CMT2S) caused by IGHMBP2 mutation was first reported in 2014, and an increasing number of cases have been reported in the past eight years. We detected 15 distinct IGHMBP2 mutations among 8 typical AR-CMT2S families in our cohort of 178 Chinese CMT2 families using Sanger sequencing and next-generation sequencing (NGS), making IGHMBP2 mutations the most frequent cause of AR-CMT2 in our cohort. From 2014 to 2022, 34 AR-CMT2S families, including 45 patients and 47 different mutations, were reported.

One PMP22/MPZ and Three MFN2/GDAP1 Concomitant Variants Occurred in a Cohort of 189 Chinese Charcot-Marie-Tooth Families.

Background And Aims: Charcot-Marie-Tooth (CMT) disease is a clinically and genetically heterogeneous group of inherited peripheral neuropathies. The wide phenotypic variability may not be completely explained by a single mutation.

Aims And Methods: To explore the existence of concomitant variants in CMT, we enrolled 189 patients and performed molecular diagnosis by application of next-generation sequencing combined with multiplex ligation-dependent probe amplification.

Coupled modeling of in- and below-cloud wet deposition for atmospheric Cs transport following the Fukushima Daiichi accident using WRF-Chem: A self-consistent evaluation of 25 scheme combinations.

Wet deposition, including both in- and below-cloud scavenging, is critical for the atmospheric transport modeling of Cs following the Fukushima Daiichi Nuclear power plant (FDNPP) accident. Although intensively investigated, wet deposition simulation is still subject to uncertainties of meteorological inputs and wet scavenging modeling, leading to biased Cs transport prediction. To reduce the dual uncertainties, in- and below-cloud wet scavenging schemes of Cs were simultaneously integrated into Weather Research and Forecasting-Chemistry (WRF-Chem), yielding online coupled modeling of meteorology and the two wet scavenging processes.

Genotype and phenotype distribution of 435 patients with Charcot-Marie-Tooth disease from central south China.

Background And Purpose: The purpose was to provide an overview of genotype and phenotype distribution in a cohort of patients with Charcot-Marie-Tooth disease (CMT) and related disorders from central south China.

Methods: In all, 435 patients were enrolled and detailed clinical data were collected. Multiplex ligation-dependent probe amplification for PMP22 duplication/deletion and CMT multi-gene panel sequencing were performed.

Incubation period of coronavirus disease 2019: new implications for intervention and control.

The COVID-19 pandemic has been causing serious disasters to mankind. The incubation period is a key parameter for epidemic control and also an important basis for epidemic prediction, but its distribution law remains unclear. This paper analyzed the epidemiological information of 787 confirmed non-Wuhan resident cases, and systematically studied the characteristics of the incubation period of COVID-19 based on the interval-censored data estimation method.

Genetic and Clinical Features in 24 Chinese Distal Hereditary Motor Neuropathy Families.

Distal hereditary motor neuropathy (dHMN) is a clinically and genetically heterogeneous group of inherited neuropathies. The objectives of this study were to report the clinical and genetic features of dHMN patients in a Chinese cohort. We performed clinical assessments and whole-exome sequencing in 24 dHMN families from Mainland China.

Predicting Influenza Epidemic for United States.

Influenza causes repeat epidemics and huge loss of lives and properties. To predict influenza epidemics, we proposed an infectious disease dynamic prediction model with control variables (SEIR-CV), which considers the characteristics of the influenza epidemic transmission, seasonal impacts, and the intensity changes of control measures over time. The critical parameters of the model were inversed using an adjoint method.

Synoptic pattern and planetary boundary layer structure associated with aerosol pollution during winter in Beijing, China.

The day-to-day variations in the planetary boundary layer (PBL) structure and air quality are closely governed by large-scale synoptic forcings. Partly due to the lack of long-term PBL observations during the winter in Beijing, the complex relationships between the large-scale synoptic patterns, local PBL structures/processes, and PM pollution have not been fully understood. Thus, this study systematically investigated these linkages by combining aerosol measurements, surface meteorological observations, radiosonde data, reanalysis, long-term three-dimensional meteorological simulations, and idealized meteorology-chemistry coupled simulations.

A novel WARS mutation (p.Asp314Gly) identified in a Chinese distal hereditary motor neuropathy family.

Distal hereditary motor neuropathy (dHMN) is a clinically and genetically heterogeneous group of inherited neuropathies characterized by distal limb muscle wasting and weakness with no or minimal sensory abnormalities. To investigate the clinical and genetic features of dHMN caused by WARS mutations in mainland China, we performed Sanger sequencing of the coding and untranslated region (UTR) regions of WARS in 160 unresolved dHMN and Charcot-Marie-Tooth (CMT) index patients. We detected a novel heterozygous variant c.

Influence of Boundary Layer Structure and Low-Level Jet on PM Pollution in Beijing: A Case Study.

Beijing experiences frequent PM pollution, which is influenced by the planetary boundary layer (PBL) structure/process. Partly due to a lack of appropriate observations, the impacts of PBL on PM pollution are not yet fully understood. Combining wind-profiler data, radiosonde measurements, near-surface meteorological observations, aerosol measurements, and three-dimensional simulations, this study investigated the influence of PBL structure and the low-level jet (LLJ) on the pollution in Beijing from 19 to 20 September 2015.

Unraveling the relationships between boundary layer height and PM pollution in China based on four-year radiosonde measurements.

Most cities in China experience frequent PM pollution, in relation to unfavorable planetary boundary layer (PBL) conditions. Partly due to the limited appropriate PBL observations, the explicit relationships between PBL structure/process and PM pollution in China are not yet clearly understood. Using the fine-resolution sounding measurements from 2014 to 2017, the relationships between boundary layer height (BLH) and PM pollution in China were systematically examined.

A novel AIFM1 mutation in a Chinese family with X-linked Charcot-Marie-Tooth disease type 4.

X-linked Charcot-Marie-Tooth disease type 4 (CMTX4), caused by AIFM1 (Apoptosis-Inducing Factor, Mitochondrion associated 1) mutations and associated with deafness and cognitive impairment, is a rare subtype of Charcot-Marie-Tooth disease. Here, we report a novel missense variant of AIFM1 in a X-linked recessive Chinese family with childhood-onset, slowly progressive, isolated axonal motor and sensory neuropathy. Calf magnetic resonance imaging revealed fatty infiltration and atrophy severely involving the muscles of peroneal compartment.

Impacts of meteorological conditions on wintertime PM pollution in Taiyuan, North China.

Taiyuan frequently experiences heavy PM pollution in winter under unfavorable meteorological conditions. To understand how the meteorological factors influence the pollution in Taiyuan, this study involved a systematic analysis for a continuous period from November 2016 to January 2017, using near-surface meteorological observations, radiosonde soundings, PM measurements, and three-dimension numerical simulation, in combination with backward trajectory calculations. The results show that PM concentration positively correlates with surface temperature and relative humidity and anti-correlates with near-surface wind speed and boundary layer height (BLH).