Compound heterozygosity of a De novo 16q24.1 deletion and missense mutation in COX4I1 leads to developmental regression, intellectual disability, and seizures.

The COX4I1 is responsible for encoding a crucial component of cytochrome c oxidase, integral to electron transport in the mitochondrial respiratory chain. Mutations in COX4I1 can result in a rare autosomal recessive disorder characterized by growth retardation, slow weight gain, microcephaly, and potentially, hematologic symptoms such as Fanconi anemia or neurological impairments including developmental regression and severe epilepsy. In this study, we report the first case of COX4I1 deficiency in China, identified in a 6-year-old boy.

Investigation of hub genes and immune infiltration in androgenetic alopecia using bioinformatics analysis.

Background: Androgenetic alopecia (AGA) is a type of non-scarring hair loss. Current drugs for AGA are accompanied by adverse reactions and a high recurrence rate. Thus, the discovery of diagnostic biomarkers and therapeutic targets for AGA remains imperatively warranted.

Accidental death during pregnancy and puerperium from 2009 to 2019 in Hunan, China: a cross-sectional study.

Objective: Few studies have analysed accidental maternal deaths. This study analysed the basic situation and classification of maternal accidental deaths and compared the differences between urban and rural areas.

Design: A cross-sectional study on accidental deaths during pregnancy and puerperium from 2009 to 2019 in Hunan Province.

Blau syndrome with pulmonary nodule in a child.

Blau syndrome (BS) is a rare monogenic disease caused by mutation of NOD2/CARD15 gene. A case of Blau syndrome in a 4-year-old Chinese boy c.1001G > A(p.

Trend of unintentional suffocation death for infants under 1 year of age from 2009 to 2018 in Hunan, China: a cross-sectional study.

Objective: Few studies have addressed the unintentional suffocation of infants in China. This study is to assess the mortality rate of unintentional suffocation among infants and the differences across age groups, gender, rural versus urban locations and related healthcare services.

Design: A cross-sectional study on unintentional suffocation death of infants under 1 year of age in Hunan Province from 2009 to 2018.

Healthy China 2030: how to control the rising trend of unintentional suffocation death in children under five years old.

Background: To investigate the occurrence frequency, changing trends, and epidemiological distribution of unintentional suffocation in children under 5 years old.

Methods: The data were collected from the Maternal and Child Health Surveillance system from 2009 to 2018. The cause of death was classified by ICD-10.

Relevance of dissolved organic matter generated from green manuring of Chinese milk vetch in relation to water-soluble cadmium.

Dissolved organic matter (DOM) can become a carrier of soil contaminants. Therefore, an understanding of the evolution and characteristics of DOM produced by Chinese milk vetch during green manuring is crucial. In this study, DOM solutions from 28 days' manuring with three different organic materials were characterized using three-dimensional fluorescence excitation-emission matrix (3D-EEM) with parallel factor (PARAFAC) analysis, and ultraviolet-visible spectroscopy.

Autologous platelet lysates local injections for treatment of tibia non-union with breakage of the nickelclad: a case report.

Background: Nonunions of the tibia represent challenging orthopedic problems, which require the surgeon to analyze numerous factors and choose an appropriate treatment. This article presents a case report of tibia and fibula fracture patient who failed the internal fixation surgery and successfully recovered after one course of percutaneous autologous platelet lysates injection.

Case Description: The patient received an internal nickelclad breakage at 9 months post-surgery but reluctant to accept a second surgery, then autologous platelet lysates (APL) injection which is a less invasive method was recommended.

Autologous platelet lysate local injections for the treatment of refractory lateral epicondylitis.

Background: The purpose of this study was to investigate the efficacy and safety of autologous platelet lysate (APL) local injections in reducing pain and improving function in patients with refractory lateral epicondylitis.

Methods: A total of 56 patients with refractory lateral epicondylitis were enrolled in this study. All the patients received three injections in one course of treatment.

Evaluation of the agronomic performance of atrazine-tolerant transgenic japonica rice parental lines for utilization in hybrid seed production.

Currently, the purity of hybrid seed is a crucial limiting factor when developing hybrid japonica rice (Oryza sativa L.). To chemically control hybrid seed purity, we transferred an improved atrazine chlorohydrolase gene (atzA) from Pseudomonas ADP into hybrid japonica parental lines (two maintainers, one restorer), and Nipponbare, by using Agrobacterium-mediated transformation.

[Effect of letrozole on endometrosis and apoptosis of ectopic endometrial cells in rats].

Objective: To investigate the therapeutic mechanism of letrozole, the third-generation aromatase inhibitor, on endometriotic lesions in a rat model and its effect on the apoptosis of ectopic endometrial cells.

Methods: Endometriosis was induced by autotransplanting pieces of uterus onto the peritoneum in rats. The rats with successful ectopic implants were divided into 2 groups: A letrozole group (n=15) and a control group (n=15).