To investigate and analyze the distribution characteristics and genetic variation of mitochondrial encephalomyopathy (ME) in children in Hainan province.

Objective: To analyze the association of mother-child interaction and screen exposure of preschool children with psychological and behavioural problems, so as to provide guidance for promoting the psychological development of preschool children. Methods: From November to December 2024, a convenience cluster sampling method was used to survey 2 977 mothers of preschool children in Daguan and Yingjiang districts of Anqing City. The Chinese Parent-Child Interaction Scale (CPCIS) was applied to evaluate the quality of mother-child interaction, and the Conners Parent Symptom Questionnaire (PSQ) was used to assess the psychological and behavioral problems of preschool children. Binary Logistic regression was applied to analyze the association of mother-child interaction, screen exposure and their combined effect on psychological and behavioral problems among preschool children. Results: The detection rate of psychological and behavioral problems among preschool children was 13.9%. Binary Logistic regression results showed that low scores of mother-child interaction ( OR=2.31, 95%CI =1.72-3.11) and high screen exposure ( OR= 1.52 , 95%CI =1.23-1.88) were higher risks for psychological and behavioral problems in preschool children; the results of the combined effect showed that preschool children in low scores of mother-child interaction and low screen exposure group ( OR=2.18, 95%CI =1.46-3.28), low scores of mother-child interaction and high screen exposure group ( OR=3.13, 95%CI =2.10- 4.65 ) had significantly higher risks of abnormal detection in psychological and behavioral problems, compared to those in the high scores of mother-child interaction and low screen exposure group respectively (all P <0.05). Conclusions Both screen exposure and mother- child interaction are associated with psychological and behavioral problems in preschool children. High quality mother-child interaction can relieve the adverse effects of screen exposure on preschool children s psychological and behavioral development.

Objective To investigate the impact of the artificial intelligence iterative reconstruction (AIIR) algorithm on image quality in chest computed tomography (CT) at different radiation doses, and assess its value in reducing radiation dose during chest CT examinations. Methods A simulated chest phantom was scanned with 12 groups of tube voltages and milliampere-seconds, and the radiation dose was recorded for each group. The images of each group were reconstructed using seven methods: AIIR with noise levels 1-5, KARL iterative reconstruction, and filtered back projection (FBP). The CT values and standard deviations of soft tissue, thoracic vertebrae, pulmonary nodules, and the mediastinum were measured, with standard deviation representing image noise. Subjective evaluation of image quality was performed. The Friedman test was used to compare CT values among the seven reconstruction groups, a linear mixed model was employed for statistical analysis of image noise, and the Friedman test was also used for comparing subjective evaluation scores. Results The reconstruction algorithm, tube voltage, milliampere-seconds, and their interactions all showed statistically significant effects on image noise for the four tissues (F = 2.041-391.283, P < 0.05). Among the reconstruction algorithms, noise reduction capability decreased in the following order: AIIR levels 1-5, KARL, and FBP. The interaction between the reconstruction algorithm and tube voltage or milliampere-seconds indicated that AIIR exhibited improved noise reduction efficacy under low tube voltage and low milliampere-second conditions (|t| = 1.892-8.245, P < 0.05). In terms of subjective evaluation of image quality, there was no statistically significant difference among AIIR levels 3-5 (|Z| ≤ 0.567, P > 0.05), and the score of AIIR level 3 was significantly higher than those of AIIR level 1, AIIR level 2, FBP, and KARL level 2 (|Z| = 3.449-5.906, P < 0.05). Conclusion The AIIR reconstruction algorithm significantly reduced image noise in chest CT examinations. For improving image quality while maintaining image realism, AIIR level 3 is recommended, which can reduce the radiation dose by more than 75%. Furthermore, AIIR showed superior performance in noise reduction under low tube voltage and low milliampere-second conditions, demonstrating significant potential for reducing radiation dose.

Objective To investigate the application value of procalcitonin(PCT),neutrophil-to-lym-phocyte ratio(NLR)and C-reactive protein to albumin ratio(CAR)in the short-term prognosis of the pa-tients with severe community acquired pneumonia(SCAP).Methods A total of 225 patients with communi-ty-acquired pneumonia(CAP)treated in this hospital from July 2021 to December 2022 were selected as the study subjects and divided into the SCAP group and non-SCAP group.Then the patients with SCAP were di-vided into the survival group and death group according to their survival state in 28 d.The general data and re-lated laboratory indexes were collected.NLR and CAR were calculated.The binary logistic regression was a-dopted to analyze the risk factors of death on 28 d for the SCAP patients.The receiver operating characteristic(ROC)curve was drawn and the area under the curve(AUC)was calculated to evaluate the predictive value of relevant indicators.Results The age,levels of PCT,NLR,CAR,WBC and NEU,and the proportion of cor-onary heart disease in the SCAP group were higher than those in the non-SCAP group,while the levels of LYM and ALB were lower than those in the non-SCAP group,and the differences were statistically significant(P＜0.05).The age,levels of PCT,NLR,CAR,WBC and NEU,and the proportion of COPD in the death group were higher than those in the survival group,while the levels of LYM and ALB were lower than those in the survival group,and the differences were statistically significant(P＜0.05).The binary logistic regres-sion analysis showed that the age(OR=1.069,95％CI:1.020-1.120),chronic obstructive pulmonary dis-ease(OR=5.633,95％CI:2.019-15.712),PCT(OR=1.045,95％CI:1.002-1.090)and CAR(OR=2.170,95％CI:1.616-2.915)were the independent influencing factor for the death on 28 d in the patients with SCAP.The ROC curve analysis indicated that AUC,sensitivity and specificity of PCT,NLR and CAR combined detection were superior to those of detection alone,having good predictive value.Conclusion PCT,NLR and CAR have a certain predictive value for death within 28 d in the patients with SCAP.The combined detection has better predictive efficiency.

Nonobstructive azoospermia (NOA), one of the most severe types of male infertility, etiology often remains unclear in most cases. Therefore, this study aimed to detect four biallelic detrimental variants (0.5%) in the minichromosome maintenance domain containing 2 ( MCMDC2 ) genes in 768 NOA patients by whole-exome sequencing (WES). Hematoxylin and eosin (H&E) demonstrated that MCMDC2 deleterious variants caused meiotic arrest in three patients (c.1360G>T, c.1956G>T, and c.685C>T) and hypospermatogenesis in one patient (c.94G>T), as further confirmed through immunofluorescence (IF) staining. The single-cell RNA sequencing data indicated that MCMDC2 was substantially expressed during spermatogenesis. The variants were confirmed as deleterious and responsible for patient infertility through bioinformatics and in vitro experimental analyses. The results revealed four MCMDC2 variants related to NOA, which contributes to the current perception of the function of MCMDC2 in male fertility and presents new perspectives on the genetic etiology of NOA.
Humans ; Male ; Azoospermia/genetics* ; Meiosis/genetics* ; Spermatogenesis/genetics* ; Adult ; Exome Sequencing ; Microtubule-Associated Proteins/genetics* ; Alleles ; Infertility, Male/genetics*

Extensive studies have identified potential adverse effects on semen quality of obesity, based on body mass index, but the association between body fat distribution, a more relevant indicator for obesity, and semen quality remains less clear. We conducted a longitudinal study of 4304 sperm donors from the Guangdong Provincial Human Sperm Bank (Guangzhou, China) during 2017-2021. A body composition analyzer was used to measure total and local body fat percentage for each participant. Generalized estimating equations were employed to assess the association between body fat percentage and sperm count, motility, and morphology. We estimated that each 10% increase in total body fat percentage (estimated change [95% confidence interval, 95% CI]) was significantly associated with a 0.18 × 10 6 (0.09 × 10 6 -0.27 × 10 6 ) ml and 12.21 × 10 6 (4.52 × 10 6 -19.91 × 10 6 ) reduction in semen volume and total sperm count, respectively. Categorical analyses and exposure-response curves showed that the association of body fat distribution with semen volume and total sperm count was stronger at higher body fat percentages. In addition, the association still held among normal weight and overweight participants. We observed similar associations for upper limb, trunk, and lower limb body fact distributions. In conclusion, we found that a higher body fat distribution was significantly associated with lower semen quality (especially semen volume) even in men with a normal weight. These findings provide useful clues in exploring body fat as a risk factor for semen quality decline and add to evidence for improving semen quality for those who are expected to conceive.
Humans ; Male ; Adult ; Semen Analysis ; China ; Body Fat Distribution ; Longitudinal Studies ; Sperm Count ; Sperm Motility ; Body Mass Index ; Tissue Donors ; Obesity/complications* ; Spermatozoa ; Young Adult ; Middle Aged ; East Asian People

OBJECTIVES: To investigate the clinical features and gene mutation characteristics of combined oxidative phosphorylation deficiency type 7 (COXPD7) caused by mutations in the C12orf65 gene, and to enhance the awareness of this disease. METHODS: A child diagnosed with COXPD7 in the Department of Neurology, Children's Hospital Affiliated to Zhengzhou University in 2021 was included, along with 10 patients reported in the literature. All subjects were analyzed for their genotypes and clinical phenotypes. RESULTS: A total of 11 patients with COXPD7 were included, comprising 1 reported in this study and 10 from the literature. Among the 11 patients, 9 had homozygous mutations in the C12orf65 gene, while 2 had compound heterozygous mutations, which were identified as frameshift or nonsense mutations. The age of onset ranged from 1 day to 2 years, and clinical manifestations included optic nerve atrophy and delays in intellectual and motor development. Eight patients exhibited external ophthalmoplegia, and five patients displayed spastic paralysis. Cranial magnetic resonance imaging revealed optic nerve atrophy in all 11 patients, abnormal brainstem signals in 10 patients, and a lactate peak on brainstem magnetic resonance spectroscopy scans in 3 patients. CONCLUSIONS COXPD7 associated with the C12orf65 gene results from homozygous or compound heterozygous mutations, with primary clinical manifestations of optic nerve atrophy and delays in intellectual and motor development. Some patients may also present with spastic paralysis or external ophthalmoplegia. Cranial imaging reveals symmetrical abnormal signals in bilateral basal ganglia and brainstem, and a lactate peak is observed on brainstem magnetic resonance spectroscopy scans.
Child, Preschool ; Female ; Humans ; Infant ; Male ; Mitochondrial Diseases/genetics* ; Mitochondrial Proteins/genetics* ; Mutation ; Oxidative Phosphorylation ; Infant, Newborn

OBJECTIVES: To analyze the clinical characteristics of diffuse panbronchiolitis (DPB) in children and to enhance the clinical diagnosis and treatment of this disease. METHODS: A retrospective analysis was conducted on the clinical data of 6 children diagnosed with DPB who were hospitalized at The First Affiliated Hospital of Guangzhou Medical University from January 2011 to December 2019. RESULTS: Among the 6 patients, there were 2 males and 4 females; the age at diagnosis ranged from 7 to 12 years. All patients presented with cough, sputum production, and exertional dyspnea, and all had a history of sinusitis. Two cases showed positive serum cold agglutinin tests, and 5 cases exhibited pathological changes consistent with chronic bronchiolitis. High-resolution chest CT in all patients revealed centrilobular nodules diffusely distributed throughout both lungs with a tree-in-bud appearance. Five patients received low-dose azithromycin maintenance therapy, but 3 showed inadequate treatment response. After empirical anti-tuberculosis treatment, non-tuberculous Mycobacteria were found in the bronchoalveolar lavage fluid. Follow-up over 2 years showed 1 case cured, 3 cases significantly improved, and 2 cases partially improved. CONCLUSIONS The clinical presentation of DPB is non-specific and can easily lead to misdiagnosis. In cases where DPB is clinically diagnosed but does not show improvement with low-dose azithromycin treatment, special infections should be considered.
Humans ; Male ; Female ; Bronchiolitis/drug therapy* ; Retrospective Studies ; Child ; Haemophilus Infections/diagnosis*

OBJECTIVE: To evaluate the efficacy and safety of Shexiang Tongxin Dropping Pill (STDP) in treating stable angina patients with phlegm-heat and blood-stasis syndrome by exercise duration and metabolic equivalents. METHODS: This multicenter, randomized, double-blind, placebo-controlled clinical trial enrolled stable angina patients with phlegm-heat and blood-stasis syndrome from 22 hospitals. They were randomized 1:1 to STDP (35 mg/pill, 6 pills per day) or placebo for 56 days. The primary outcome was the exercise duration and metabolic equivalents (METs) assessed by the standard Bruce exercise treadmill test after 56 days of treatment. The secondary outcomes included the total angina symptom score, Chinese medicine (CM) symptom scores, Seattle Angina Questionnaire (SAQ) scores, changes in ST-T on electrocardiogram and adverse events (AEs). RESULTS: This trial enrolled 309 patients, including 155 and 154 in the STDP and placebo groups, respectively. STDP significantly prolonged exercise duration with an increase of 51.0 s, compared to a decrease of 12.0 s with placebo (change rate: -11.1% vs. 3.2%, P<0.01). The increase in METs was significantly greater in the STDP group than in the placebo group (change: -0.4 vs. 0.0, change rate: -5.0% vs. 0.0%, P<0.01). The improvement of total angina symptom scores (25.0% vs. 0.0%), CM symptom scores (38.7% vs. 11.8%), reduction of nitroglycerin consumption (100.0% vs. 11.3%), and all domains of SAQ, were significantly greater with STDP than placebo (all P<0.01). The changes in Q-T intervals at 28 and 56 days from baseline were similar between the two groups (both P>0.05). Twenty-five participants (16.3%) with STDP and 16 (10.5%) with placebo experienced AEs (P=0.131), with no serious AEs observed. CONCLUSION STDP could improve exercise tolerance in patients with stable angina and phlegm-heat and blood stasis syndrome, with a favorable safety profile. (Registration No. ChiCTR-IPR-15006020).
Humans ; Double-Blind Method ; Drugs, Chinese Herbal/adverse effects* ; Male ; Female ; Middle Aged ; Angina, Stable/physiopathology* ; Aged ; Syndrome ; Treatment Outcome ; Placebos ; Tablets