TSHR Variant Screening and Phenotype Analysis in 367 Chinese Patients With Congenital Hypothyroidism

Background@#Genetic defects in the human thyroid-stimulating hormone (TSH) receptor (TSHR) gene can cause congenital hypothyroidism (CH). However, the biological functions and comprehensive genotype–phenotype relationships for most TSHR variants associated with CH remain unexplored. We aimed to identify TSHR variants in Chinese patients with CH, analyze the functions of the variants, and explore the relationships between TSHR genotypes and clinical phenotypes. @*Methods@#In total, 367 patients with CH were recruited for TSHR variant screening using whole-exome sequencing. The effects of the variants were evaluated by in-silico programs such as SIFT and polyphen2. Furthermore, these variants were transfected into 293T cells to detect their Gs/cyclic AMP and Gq/11 signaling activity. @*Results@#Among the 367 patients with CH, 17 TSHR variants, including three novel variants, were identified in 45 patients, and 18 patients carried biallelic TSHR variants. In vitro experiments showed that 10 variants were associated with Gs/cyclic AMP and Gq/11 signaling pathway impairment to varying degrees. Patients with TSHR biallelic variants had lower serum TSH levels and higher free triiodothyronine and thyroxine levels at diagnosis than those with DUOX2 biallelic variants. @*Conclusions@#We found a high frequency of TSHR variants in Chinese patients with CH (12.3%), and 4.9% of cases were caused by TSHR biallelic variants. Ten variants were identified as loss-of-function variants. The data suggest that the clinical phenotype of CH patients caused by TSHR biallelic variants is relatively mild. Our study expands the TSHR variant spectrum and provides further evidence for the elucidation of the genetic etiology of CH.

Clinical characteristics of children with Omicron variant infection in Chengdu area, China / 中国当代儿科杂志

OBJECTIVES@#To investigate the clinical characteristics of children infected with the Omicron variant of severe acute respiratory syndrome coronavirus 2 (SARS-CoV-2) in Chengdu of China.@*METHODS@#A retrospective analysis was conducted for the clinical data of 226 children who were infected with the Omicron variant of SARS-Cov-2 and were isolated and treated in Chengdu Shelter Hospital from August 28 to September 21, 2022. According to the presence or absence of clinical symptoms, they were divided into two groups: asymptomatic group and mild symptomatic group. The two groups were compared in terms of clinical characteristics, diagnosis and treatment, and prognosis.@*RESULTS@#Among the 226 children infected with the Omicron variant, 71 (31.4%) were asymptomatic and 155 (68.6%) had mild symptoms. Fever and cough were the most common clinical symptoms, with fever in 95 children (61.3%) and cough in 92 children (59.4%). Of all 226 children, 188 (83.2%) received coronavirus disease 2019 (COVID-19) vaccination. The time to nucleic acid clearance ranged from 6 to 26 days, with a nucleic acid clearance rate of 58.0% (131/226). There were no significant differences among different age groups in sex, early symptoms, clinical typing, nucleic acid re-positive rate, nucleic acid clearance rate, and length of hospital stay (P>0.05). There were no significant differences between the asymptomatic and mild symptomatic groups in age, sex, underlying diseases, COVID-19 vaccination, use of Lianhua Qingwen granules, nucleic acid clearance rate, nucleic acid re-positive rate, and length of hospital stay (P>0.05).@*CONCLUSIONS@#Children infected with the Omicron variant of SARS-Cov-2 in Chengdu generally have mild clinical symptoms, mainly upper respiratory tract infection, which has little threat to the health of children of different ages, and children tend to have a good overall prognosis.

Estimation of intramuscular load of the upper limb in static postures and repetitive work by surface electromyography / 中华劳动卫生职业病杂志

<p><b>OBJECTIVE</b>To evaluate the intramuscular loads of the upper limb during static postures and repetitive work by surface electromyography.</p><p><b>METHODS</b>Twenty-six male college student volunteers were recruited for the experiment. The surface electromyography (SEMG) singal were recorded from the brachioradialis, biceps brachii, deltoid and trapezius of right arm during static postures including forward elevating, abducting, extending and a repetitive performance at different height of the bench, and root mean square (RMS) values were educed from the singal.</p><p><b>RESULTS</b>The SEMG amplitudes from forward elevating and abducting were in direct proportion to the angle of the elevating and abducting (r > 0.9, P < 0.01). The maximal voluntary electrical activation (MVE) of the deltoid were 6.4%, 10.1%, 12.6%, 16.2% and 20.8% while the arm elevated forward at an angle of 0 degrees , 45 degrees , 90 degrees , 135 degrees and 180 degrees respectively. The repetitive work showed that the height of the bench and the duration had more effects on deltoid and trapezius than the other muscles. The MVE% of the deltoid were 13.0%, 14.4% and 15.6% while the bench was 74, 79 and 84 cm in height respectively (P < 0.01).</p><p><b>CONCLUSION</b>SEMG which is suitable for determining and reflecting the muscle strain during static postures and repetitive work may be a reasonable indicator for the assessment of manual workload and the ergonomic design.</p>