To summarize the clinical characteristics and genetic mutation spectrum of patients with SELENON-related myopathy(SELENON-RM), in order to improve awareness among physicians.

Very preterm infant（VPI）is a high-risk group for gut microbiota dysbiosis and neurodevelopmental disorders.There is a strong link between the gut microbiota and neurodevelopment early in life，especially for VPI，and this link has attracted increasing attention.There is a lack of insight into the mechanisms underlying the microbiota-gut-brain axis（MGBA）in VPI.By studying traumatic diseases，infectious diseases，and different gut flora，it is found that early-life intestinal microbiota abnormalities have an important impact on the host's long-term neurological development.This review focuses on the association between gut microbiota and neurological behavior during early development in VPI，and provide reference for improving neurological development and growth in VPI.

Abstract Short form video applications provide a new mode of online participation for college students, but also bring some problematic issues, especially short form video addiction among college students. The article expounds the definition, influencing factors and adverse impacts on physical and mental health of short form video addiction among college student users by systematically reviewing the existing domestic and foreign literature regarding college students short form addiction. Awareness should be raised among families, schools and society regarding college students addiction to short form video, and healthy usage of short form video are encouraged among college students to reduce the risk of addiction to short form video.

Abstract Cyberchondria is a growing mental health concern in the digital age, significantly impacting college students physical and psychological wellbeing as well as their daily functioning. The paper systematically reviews existing domestic and international literature to synthesize key aspects of cyberchondria among college students, including its conceptualization, measurement tools, prevalence, contributing factors, consequences, and intervention approaches. Building on the foundation, the study identifies critical gaps and proposes future research directions. By establishing a comprehensive theoretical framework, the work aims to inform subsequent studies and targeted interventions, ultimately supporting the promotion of mental and physical health among college students affected by cyberchondria.

ObjectiveTo investigate the influence of triglyceride （TG）/high-density lipoprotein cholesterol （HDL-C） ratio on the onset of primary liver cancer. MethodsA prospective cohort study was conducted. Physical examination data were collected from 99 750 cases of on-the-job and retired employees of Kailuan Group who participated health examination from July 2006 to December 2007， and they were followed up till December 31， 2021 to observe the onset of primary liver cancer. A one-way analysis of variance was used for comparison of normally distributed continuous data between multiple groups， and the Kruskal-Wallis H test was used for comparison of continuous data with skewed distribution between multiple groups； the chi-square test was used for comparison of categorical data between groups. According to the tertiles of TG/HDL-C ratio， the subjects were divided into Q1， Q2， and Q3 groups， and the incidence density of primary liver cancer was calculated for each group. The Kaplan-Meier method was used to calculate the cumulative incidence rate of primary liver cancer in each group， and the log-rank test was used to compare the difference in cumulative incidence rate between groups. The Cox proportional hazards model was used to analyze the influence of TG/HDL-C ratio on the onset of primary liver cancer. ResultsThere were significant differences between the three groups in age， proportion of male subjects， waist circumference， body mass index， fasting blood glucose， systolic pressure， diastolic pressure， triglyceride， total cholesterol， HDL-C， low-density lipoprotein cholesterol， alanine aminotransferase， high-sensitivity C-reactive protein， chronic liver diseases， hypertension， diabetes， the family history of malignant tumor， drinking， smoking， physical exercise， and educational level （P<0.05）. During the mean follow-up time of 14.06±2.71 years， there were 484 cases of new-onset liver cancer， among whom there were 446 male subjects and 38 female subjects. The incidence density of primary liver cancer was 0.39/1 000 person-years in the Q1 group， 0.35/1 000 person-years in the Q2 group， and 0.30/1 000 person-years in the Q3 group， and the cumulative incidence rates of primary liver cancer in the three groups were 6.03‰， 5.28‰， and 4.49‰， respectively， with a significant difference between the three groups based on the long-rank test （χ²=6.06， P=0.048）. After adjustment for the confounding factors considered， the Cox proportional hazards model showed that compared with the Q3 group， the Q1 group had a hazard ratio of 2.04 （95% confidence interval ［CI］： 1.61‍ ‍—‍ ‍2.58， P_{for trend}<0.05）， and the Q2 group had a hazard ratio of 1.53 （95%CI： 1.21‍ ‍—‍ ‍1.92， P_{for trend}<0.05）. ConclusionThe reduction in TG/HDL-C ratio is associated with an increase in the rask of primary liver cancer， especially in people with chronic liver diseases.

Objective:To report the clinical characteristics of a case of childhood amyotrophic lateral sclerosis (ALS) caused by SPTLC2 c.778G>A (p.Glu260Lys) mutation. Methods:Whole exon sequencing or whole genome sequencing data from 1 936 patients in the ALS cohort of Peking Union Medical College Hospital were screened for SPTLC2 gene mutations. Clinical data, laboratory examination, neurophysiological examination and genetic test results of the proband were collected. Results:Only one 9-year-old male child with SPLTC2 gene mutation was found. He was admitted to the Department of Neurology, Peking Union Medical College Hospital in December 2022 due to"progressive limb weakness for more than 4 years". Physical examination revealed atrophy and fasciculations of the tongue. Weakness of 4 limbs, muscle atrophy, as well as bilateral hyperreflexia, clonus, and Babinski sign were present. Whole genome sequencing indicated that SPTLC2 gene had c.778G>A (p.Glu260Lys) missense mutation, and no other pathogenic mutations of ALS related genes were detected. Sanger sequencing and family verification showed that neither father nor mother carried the mutation, suggesting that it was a de novo mutation. Nerve conduction velocity test showed no abnormalities, and electromyography suggested neurogenic lesions. Neurofilament light chain in cerebrospinal fluid and serum were increased significantly. The patient′s symptoms continued worsening even after oral administration of L-serine. Conclusion:SPTLC2 gene mutation can cause childhood ALS, and further study of its potential pathogenesis is helpful to uncover another potential pathway of ALS and a novel therapeutic target.

Objective:To investigate the clinical efficacy of botulinum toxin A in the treatment of hand hyperhidrosis.Methods:One hundred patients with hand hyperhidrosis were treated with botulinum toxin A (BTXA, Lanzhou Biotechnology Development Co., Ltd., Botulinum Toxin Type A for Injection Hengli) injection, a total of 200 U. Each hand was injected with 100 U respectively. The curative effect was evaluated by self-made questionnaire. The scores of the two were added. The subjective and objective evaluation were carried out before and after injection, and the patients were rechecked 2 weeks, and 1, 4 and 6 months after injection. Efficacy, patient satisfaction and adverse reactions were evaluated.Results:Compared with before treatment, the effective rate increased 2 weeks after injection, 1 month after injection, 4 months after injection and 6 months after injection, and the difference was statistically significant (Chi-square value was 31.54, 36.33, 28.34, 25.23, respectively, P<0.05). After 6 months of follow-up, the effect gradually decreased, and the curative effect could be maintained for about 10 months. After recurrence, the symptoms of hand sweating were still reduced. Satisfaction 96%; Adverse reactions were mild, subcutaneous blood stasis, 27% hand muscles were slightly weak, and returned to normal after 2-3 weeks. Conclusions:Botulinum toxin A injection has certain curative effect, high safety and less adverse reactions. It is an ideal method for the treatment of hand hyperhidrosis.

Oxidative stress by different oxygen concentrations can cause damage to the immature intestinal tract of newborns and preterm infants.Newborns, especially premature infants, have underdeveloped intestinal tracts, immature immune function, increased susceptibility to oxidative stress, and are prone to intestinal inflammatory diseases.Both hypoxia and hyperoxia can trigger oxidative stress, leading to intestinal damage.Histological changes include damage to the intestinal barrier, watery degeneration of the intestinal epithelium, and reduced goblet cells and villi.Hypoxia-induced intestinal injury is affected by a variety of signaling pathways including CRF-TLR4, Grx1-HIF-VEGF, NLRP3-Caspase-1, and miRNA-SIRT axis.The intestinal injury induced by hyperoxia is closely related to TLR4/NF-κB signaling pathway, Nrf2/IL-17D axis, and ASK1-MAPK cascade.This review focuses on the histological changes and molecular pathways of hypoxic or hyperoxic-induced intestinal injury to establish a framework for potential interventions.

OBJECTIVE: To explore the clinical features and genetic etiology for a neonate with Smith-Magenis syndrome (SMS). METHODS: Copy number variation sequencing (CNV-seq) was applied to the neonate and his parents, and the genotype-phenotype correlation was analyzed. RESULTS: On the second day after birth, the neonate had presented with pathological jaundice and immunodeficiency. Cranial MRI revealed ventricular enlargement and enlargement of cisterna magna. At 3 months, the infant has presented with square face, prominent forehead, deep-set eyes, hypertelorism, palpebral fissure upward and button noses. Genetic testing showed that he had carried a 2.9 Mb deletion in 17p11.2 region, seq[GRCh37] del(17)(p11.2)(chr17:16 836 379-19 880 992). The same deletion was not found in either parent. CONCLUSION SMS is mostly diagnosed in child and adulthood, but rarely in neonates. For neonates with SMS, the neurological and behavioral abnormalities have not been shown, but pathological jaundice, CNS abnormalities and immune deficiency may be the characteristics, which require attention of neonatal physicians.
Adult ; Chromosome Deletion ; Chromosomes, Human, Pair 17 ; DNA Copy Number Variations ; Genetic Testing ; Humans ; Infant, Newborn ; Intellectual Disability/genetics* ; Male ; Phenotype ; Smith-Magenis Syndrome/genetics*

It has been a hundred years since the first case of spinal muscular atrophy(SMA) was reported in the medical literature. In its 100 years of history, medical development for the cure of SMA has gone through many stages, from clinical manifestation description, accumulation of cases, disease classification exploration to pathogenic gene mapping and cloning, clinical application of gene diagnosis, animal model establishment then to R&D of disease modifying drugs and clinical use of novel therapies. The future of the development lies in breakthrough in pathophysiological mechanism, carrier screening and precise prevention, as well as new therapies. As a representative of monogenic rare diseases, review the history of the progress in diagnosis and treatment and R&D in medications and discuss the prospect of further development in the future is instrumental in leading the continued advancement of the whole cause of rare disease.