OBJECTIVES: To investigate the correlation between bone mineral density (BMD) and bone metabolic markers in preschool children and the influencing factors for BMD, and to provide a clinical basis for promoting bone health in children. METHODS: A retrospective analysis was performed for the data of 127 preschool children who underwent physical examination in the Department of Child Health Care of the First Affiliated Hospital of Xinjiang Medical University, from June to December 2024. BMD and bone metabolic markers were measured, and physical examination was performed. A multiple linear regression analysis was used to investigate the effect of general information on BMD Z-score in preschool children. Spearman's rank correlation test was used to investigate the correlation of BMD Z-score with 25-hydroxyvitamin D (25-OHD), serum bone Gla protein (BGP), and parathyroid hormone (PTH). RESULTS: BMD Z-score significantly differed by ethnicity, weight category, and height category (all P<0.05). The multiple linear regression analysis indicated that weight and height significantly influenced BMD Z-score (P<0.05), whereas sex, age, ethnicity, and parental education level did not (P>0.05). In children, BMD Z-score was positively correlated with 25-OHD level (r_s=0.260, P<0.001) and BGP level (r_s=0.075, P=0.025) and was negatively correlated with PTH level (r_s=-0.043, P=0.032). CONCLUSIONS Weight, height, 25-OHD, BGP, and PTH are influencing factors for BMD in preschool children. In clinical practice, combined measurement of bone metabolic markers may provide a scientific basis for early identification of children with abnormal BMD and prevention of osteoporosis and osteomalacia.
Humans ; Bone Density ; Child, Preschool ; Female ; Male ; Retrospective Studies ; Vitamin D/blood* ; Parathyroid Hormone/blood* ; Biomarkers/blood* ; Osteocalcin/blood* ; Bone and Bones/metabolism* ; Calcium-Binding Proteins/blood* ; Linear Models ; Matrix Gla Protein ; Extracellular Matrix Proteins/blood* ; Body Weight ; Infant

OBJECTIVES: To explore the influencing factors for very preterm birth at a gestational age of <32 weeks in the Xinjiang Uygur Autonomous Region. METHODS: Clinical data of women with preterm deliveries and their newborns admitted to five hospitals in Xinjiang from January 2023 to December 2024 were retrospectively collected. The subjects were divided by gestational age into very preterm (<32 weeks of gestation) and moderate/late preterm (32-36⁺⁶ weeks of gestation) groups. Risk factors associated with very preterm birth were analyzed. RESULTS: A total of 4 105 pregnant women with preterm deliveries were included, with 793 cases (19.32%) in the very preterm group and 3 312 cases (80.68%) in the moderate/late preterm group. The factors significantly associated with very preterm birth were as following: hypertensive disorders of pregnancy (OR=1.785, 95%CI: 1.492-2.135, P<0.05), excessive gestational weight gain (GWG, OR=2.002, 95%CI: 1.672-2.397, P<0.05), insufficient GWG (OR=1.746, 95%CI: 1.326-2.300, P<0.05), chorioamnionitis (OR=2.163, 95%CI: 1.694-2.763, P<0.05), premature rupture of membranes ≥18 hours (OR=2.158, 95%CI: 1.599-2.912, P<0.05), placental abruption (OR=2.228, 95%CI: 1.646-3.014, P<0.05), and ≤7 prenatal visits (OR=3.419, 95%CI: 2.882-4.055, P<0.05). CONCLUSIONS In the Xinjiang Uygur Autonomous Region, hypertensive disorders of pregnancy, excessive or insufficient GWG, chorioamnionitis, premature rupture of membranes ≥18 hours, placental abruption, and ≤7 prenatal visits are risk factors for very preterm birth. Strengthening high-risk pregnancy management is necessary for reducing the incidence of very preterm birth.
Humans ; Female ; Retrospective Studies ; Pregnancy ; Premature Birth/etiology* ; Gestational Age ; Adult ; Risk Factors ; Infant, Newborn ; Gestational Weight Gain

Neurological disorders are an important cause of global human disease burden， but the mechanisms of the development and progression of neurological disorders remain unclear， and most studies have shown that they are associated with the expression of mutations in human genes. MEF2D， as an important transcription factor in the MEF2 family， plays an important role in both physiological and pathological processes. Related studies have found that MEF2D can be involved in neuronal survival， regulate neuronal responses to stimuli， and participate in the pathogenic process of neurological disorders. This article reviews the research advances in MEF2D in common neurological disorders.

Objective To systematically evaluate the economic burden of echinococcosis patients in western China using meta-analysis, so as to provide insights into formulation of effective echinococcosis control strategies and optimization of medical resource allocation. Methods Articles pertaining to the economic burden of echinococcosis patients in western China were retrieved in international and Chinese databases, including PubMed, Web of Science, CNKI, Wanfang Data, and VIP Chinese Science and Technology Periodicals Full-Text Database. Studies were screened according to inclusion and exclusion criteria, and the basic characteristics of included articles, characteristics of included studies, and echinococcosis patients’ economic burden were extracted. A meta-analysis was performed using the software R package. The pooled effect size and heterogeneity were examined using a random effects model, and subgroup analyses were conducted. Results A total of 13 articles were enrolled, including 12 Chinese publications and one English publication, and all were retrospective studies. Included studies covered 4 western provinces (autonomous regions) of China, including Ningxia Hui Autonomous Region, Xinjiang Uygur Autonomous Region, Sichuan Province, and Qinghai Province, which involved 11 282 echinococcosis patients, and the study period spanned from 2006 to 2023. Meta-analysis showed that the pooled direct medical costs of echinococcosis patients were 24 730 [95% confidence interval (CI): (13 040, 36 430)] Yuan in endemic areas of western China, appearing a significant heterogeneity (I² = 79.95%, P < 0.01). Subgroup analyses showed the pooled direct medical costs of 9 090 [95% CI: (-4 970, 23 150)] Yuan for echinococcosis patients in Ningxia Hui Autonomous Region and 18 140 [95% CI: (8 440, 27 840)] Yuan in Xinjiang Uygur Autonomous Region, and pooled direct medical costs of 9 470 [95% CI: (-1 850, 20 790)] Yuan for cystic echinococcosis patients prior to 2007 and 15 270 [95% CI: (560, 24 030)] Yuan after 2007, respectively. There were high heterogeneities in the pooled direct medical costs for echinococcosis patients in terms of date of publication (I² = 82.05%, P < 0.001), treatment modality (I² = 83.28%, P < 0.001) and type of echinococcosis (I² = 72.63%, P < 0.001). In addition, the pooled indirect medical costs and direct non-medical costs were 5 670 Yuan and 4 000 Yuan for echinococcosis patients in western regions of China, respectively. Conclusions Echinococcosis patients suffer from a high economic burden in endemic areas of western China, and there are disparities in the direct medical costs for echinococcosis patients depending on disease type, study areas and study period.

Objective:To investigate the clinical characteristics, auxiliary examinations, and genetic mutations of a patient with myotonia congenita (MC).Methods:A retrospective analysis was conducted on the clinical data and whole exome sequencing results of a patient who visited the Department of Neurology, the First Affiliated Hospital of Xinjiang Medical University on April 13, 2023, and her family members. Candidate variants were verified by Sanger sequencing.Results:The patient was a 30-year-old female who presented with muscle stiffness and transient weakness during the transition from rest to movement since childhood, which improved after repeated limb movements. With age, involvement of upper limb skeletal muscles, extraocular muscles, and masticatory muscles was noted. Electromyography (EMG) showed abundant myotonic potentials in the muscles of the limbs, and serum creatine kinase levels (586.80 IU/L) were elevated. Genetic testing revealed that the patient carried 2 mutations in the CLCN1 gene: a newly discovered single nucleotide deletion mutation c.1388del (p.Phe463SerfsTer4), and a known missense mutation c.1679T>C (p.Met560Thr). These mutations were present in a compound heterozygous state. The patient′s father carried the c.1388del single heterozygous mutation, while her mother, son, aunt, younger uncle, and grandmother carried the c.1679T>C single heterozygous mutation. Conclusions:MC is primarily characterized by muscle stiffness and transient weakness at the onset of movement, which improves after "warm-up". The proband in this pedigree exhibits typical MC symptoms, with significantly elevated creatine kinase levels and EMG revealing abundant myotonic potentials in the muscles of the limbs indicating myopathic damages. The new mutation c.1388del (p.Phe463SerfsTer4) in the CLCN1 gene further expands the spectrum of pathogenic mutations in the CLCN1 gene.

Objective:To investigate the clinical characteristics, auxiliary examinations, and genetic mutations of a patient with myotonia congenita (MC).Methods:A retrospective analysis was conducted on the clinical data and whole exome sequencing results of a patient who visited the Department of Neurology, the First Affiliated Hospital of Xinjiang Medical University on April 13, 2023, and her family members. Candidate variants were verified by Sanger sequencing.Results:The patient was a 30-year-old female who presented with muscle stiffness and transient weakness during the transition from rest to movement since childhood, which improved after repeated limb movements. With age, involvement of upper limb skeletal muscles, extraocular muscles, and masticatory muscles was noted. Electromyography (EMG) showed abundant myotonic potentials in the muscles of the limbs, and serum creatine kinase levels (586.80 IU/L) were elevated. Genetic testing revealed that the patient carried 2 mutations in the CLCN1 gene: a newly discovered single nucleotide deletion mutation c.1388del (p.Phe463SerfsTer4), and a known missense mutation c.1679T>C (p.Met560Thr). These mutations were present in a compound heterozygous state. The patient′s father carried the c.1388del single heterozygous mutation, while her mother, son, aunt, younger uncle, and grandmother carried the c.1679T>C single heterozygous mutation. Conclusions:MC is primarily characterized by muscle stiffness and transient weakness at the onset of movement, which improves after "warm-up". The proband in this pedigree exhibits typical MC symptoms, with significantly elevated creatine kinase levels and EMG revealing abundant myotonic potentials in the muscles of the limbs indicating myopathic damages. The new mutation c.1388del (p.Phe463SerfsTer4) in the CLCN1 gene further expands the spectrum of pathogenic mutations in the CLCN1 gene.

OBJECTIVE

This study compared the demographics, clinical profile, treatment, and outcomes of retinoblastoma patients seen at medical institutions in the Philippines between two time periods: 2010 to 2015 and 2016 to 2020.

This was a multicenter, analytical, cohort study using review of medical charts and databases of retinoblastoma patients seen in 11 medical institutions from 2010 to 2020.

There were 636 patients (821 eyes) included in this study: 330 patients were seen in 2010 to 2015 while 306 in 2016 to 2020. More cases per annum were seen in the latter timeline. The number of patients with unilateral disease was not significantly different between the two time periods (p=0.51). Age at onset of symptom, age at initial consultation, and delay in consult were also not significantly different between the two time periods (p > 0.05). Patients had significantly different distributions of intraocular grades (p < 0.0001) and systemic staging (p < 0.0001) between the two time periods. Enucleation was the most common surgical treatment performed in both timelines. There was significant difference in the status of patients based on the need for systemic chemotherapy (p < 0.01). There was significant difference in outcome between the two time periods, including the proportions of living and deceased patients.

This study compared the most comprehensive data on retinoblastoma patients in the country. There was no improvement in early health seeking behavior based on similar age at initial consult and delay in consult. Enucleation remained the most common treatment mode as opposed to chemotherapy due to similar percentage of patients with unilateral disease, an indication for enucleation rather than chemotherapy.