The patient is a female infant, 4 months and 9 days old, who was admitted to the hospital due to recurrent fever, cough, and hepatomegaly for over a month. The patient was a healthy full-term infant with a normal birth history. At 2 months and 22 days after birth, she developed recurrent fever, cough, and respiratory distress. Chest imaging revealed diffuse bilateral lung lesions, and fiberoptic bronchoscopy showed interstitial changes in both lungs. These suggested the presence of interstitial lung disease. The patient also presented with hepatomegaly, anemia, hyperlipidemia, hypothyroidism, and malnutrition. Genetic testing indicated compound heterozygous variations in the MARS1 gene. This mutation can cause interstitial lung and liver disease, which is a severe rare disorder that typically manifests in infancy or early childhood. It is inherited in an autosomal recessive manner and characterized by early-onset respiratory insufficiency and liver disease in infants or young children. Since its first reported case in 2013, as of June 2023, only 38 related cases have been reported worldwide. This article reports the multidisciplinary diagnosis and treatment of interstitial lung and liver disease in an infant caused by MARS1 gene mutation.
Female ; Humans ; Infant ; Cough ; Hepatomegaly/pathology* ; Liver Diseases ; Lung/pathology* ; Lung Diseases, Interstitial/pathology* ; Mutation

Objective: To establish the norms and clinical application standards of mass spectrometry method to measure vitamin D in capillary blood. Methods: Following the "Province-City-Hospital" sampling procedure, a cross-sectional sample of 1 655 healthy children under 7 years of age were recruited from 12 provinces, autonomous regions, or municipalities in China from November 2020 to December 2021. Both venous and capillary blood samples from the same individual were collected, for which serum 25(OH)D levels were measured by high-performance liquid chromatography-mass spectrometry (HPLC-MS/MS) method. Pearson correlation analysis and linear regression analysis were used to detect the correlation and determine a correction algorithm. The agreement was analyzed using Bland-Altman plot and Kappa statistic. The sensitivity and specificity were evaluated using receiver operating characteristic (ROC) curve method. Results: Venous and capillary 25(OH)D levels of 1 655 healthy children under 7 years of age were 74.25 (59.50, 92.00) and 68.75 (54.44, 86.25) nmol/L, respectively, showed a significant difference(Z=22.14, P<0.001) as well as a highly significant correlation between venous and capillary 25(OH)D levels(r=0.95, P<0.001). Linear regression analysis was then performed to determine the correction algorithm: lg(corrected capillary 25(OH)D)=0.13+0.95×lg(capillary 25(OH)D)(R²=0.90,P<0.001). The deviation between venous and corrected capillary 25(OH)D levels was (0.50±17.50) nmol/L, a difference value that did not reach statistical significance (P>0.05). The cut-off values of capillary blood 25(OH)D values 30.00, 50.00, 75.00 nmol/L corresponding to venous blood 25(OH)D values were 26.59, 45.56, and 69.84 nmol/L, respectively. Good consistency was observed between venous and corrected capillary 25(OH)D levels in clinical diagnosis (Kappa value 0.68-0.81). Corrected capillary 25(OH)D showed a high clinically predictive value (area under curve 0.97-0.99,sensitivity 0.72-0.92,specificity 0.89-0.99). Conclusion: The standardized capillary HPLC-MS/MS method can be used to detect 25(OH)D levels in children clinically.
Child ; Humans ; Vitamin D ; Cross-Sectional Studies ; Tandem Mass Spectrometry ; Vitamins ; Reference Standards

Objective: To explore current vitamin D status and influential factors of vitamin D deficiency and insufficiency among children under 7 years of age in 11 provinces, autonomous regions or municipalities of China. Methods: According to the "province-city-hospital" sampling technical route, a total of 1 531 healthy children under 7 years of age were sampled from 11 provinces, autonomous regions or municipalities in China by the cluster random sampling method from November 2020 to November 2021. The demographic information, family conditions, behavior and living habits and feeding behaviors were collected using unified questionnaire. Serum 25-hydroxyvitamin D(25(OH)D) levels were measured by liquid chromatography-tandem mass spectrometry. Serum 25(OH)D<30 nmol/L was considered deficient and 30-50 nmol/L was considered insufficient. With 25(OH)D≤50 nmol/L as the dependent variable, multivariate Logistic regression was applied to analyze the association between vitamin D deficiency and insufficiency and potential influential factors. Results: The prevalence of vitamin D deficiency and insufficiency among children under 7 years of age in 11 provinces, autonomous regions or municipalities of China was 14.0% (215/1 531), 3.8% (25/664) and 21.9% (190/867) in 0-<3 and 3-<7 of age years, respectively. Compared to children aged 0-<3 years, children aged 3-<7 years had a 2.6-fold increased risk of vitamin D deficiency and insufficiency (OR=3.60, 95%CI 1.93-6.72, P<0.001). Frequent sunlight exposure (OR=0.46, 95%CI 0.29-0.73, P=0.001), vitamin D supplementation (sometimes, OR=0.33, 95%CI 0.21-0.51, P<0.001; daily, OR=0.20, 95%CI 0.11-0.36, P<0.001) and infant formula intake(4-7 times per weeks, OR=0.43, 95%CI 0.28-0.68, P<0.001) were protective factors for vitamin D deficiency and insufficiency. Conclusion: Vitamin D deficiency and insufficiency are common among children under 7 years of age in 11 provinces, autonomous regions or municipalities of China, which is affected by age, sunlight exposure, vitamin D supplementation and infant formula intake.
Child ; China/epidemiology* ; Cross-Sectional Studies ; Humans ; Infant ; Vitamin D ; Vitamin D Deficiency/epidemiology* ; Vitamins

This article summarizes the strategy and effects of preventing and controlling the epidemic in the evacuation support of the aero medical evacuation team of the 7th peacekeeping medical contingent of China to Mali， to actively respond to the coronavirus disease-19 （COVID-19 ）epidemic based on existing medical conditions and further provide scientific evidence for guaranteeing military medical service in public health emergencies.

BACKGROUND: Adhesion, biofilm formation, yeast-hyphal transition, secretion of enzymes, and hemolytic activity are all considered important factors in Candida tropicalis infection. However, DNA sequence data for this pathogen are limited. In this study, the polymorphism and heterogeneity of genes agglutinin-like sequences (ALS)2, Lipase (LIP)1, LIP4, and secretory aspartyl proteinase tropicalis (SAPT)1-4 as well as the relationship between phenotype and genotype were analyzed. METHODS: This study started in August 2013, and ended in July 2017. The complete length of ALS2, LIP1, LIP4, and SAPT1-4 of 68 clinical C. tropicalis isolates was sequenced. Single nucleotide polymorphisms (SNPs) as well as insertions and deletions (indels) were identified within these genes. In addition, phenotypic characteristics of the virulent factors, including adhesion and the secretion of aspartyl proteinases and phospholipases, were determined. RESULTS: There were 73, 24, 17, 16, 13, and 180 SNPs in the genes LIP1, LIP4, SAPT1, SAPT2, SAPT3, and SAPT4, respectively. Furthermore, 209 SNPs were identified in total for the gene ALS2. Interestingly, large fragment deletions and insertions were also found in ALS2. Isolate FXCT 01 obtained from blood had deletions on all 4 sites and showed the lowest adhesion ability on the polymethylpentene surface. In addition, isolates with deletions in the regions 1697 to 1925 and 2073 to 2272 bp displayed relatively low abilities for adhesion and biofilm formation, and this phenotype correlated with the deletions found in ALS2. LIP1, SAPT4, and ALS2 displayed great heterogeneity among the isolates. Large deletions found in gene ALS2 appeared to be associated with the low ability of adhesion and biofilm formation of C. tropicalis. CONCLUSION This study might be useful for deeper explorations of gene function and studying the virulent mechanisms of C. tropicalis.
Bacterial Adhesion ; Biofilms ; Candida tropicalis ; genetics ; pathogenicity ; Lipase ; genetics ; Polymorphism, Single Nucleotide ; Virulence ; genetics

Objective To evaluate the clinical efficacy and safety of atomoxetine on attention deficit hyperactivity disorder ( ADHD ) children with transient tic disorder.Methods Sixty children of ADHD combined with transient tic disorder were randomly divided into control group ( n=30 ) and treatment group ( n=30 ) .Control group was treated with hydrochloric acid 10 mg, once a day.Treatment group was treated with atomoxetine hydrochloride 0.5 mg? kg-1 , qd, day 1-7, after 7 days, increase the dose to 1.2 mg? kg -1 , but the maximum dose should not exceed 1.4 mg? kg-1 . Two groups of children were treated for 2 months.The clinical efficacy, attention deficit ( AD) , hyperactivity im-pulse ( HI ) , ADHD score and the incidence of adverse drug reactions were compared between two groups.Results After treatment, the total effective rates of ADHD symptoms and transient tic disorder in treatment group were significantly higher than those of control group ( 83.33% vs 76.67%, 80.00%vs 53.33%, P<0.05 ) .After treatment, the AD, ADHD, HI scores of two groups were significantly lower than those before treatment, and the score of treatment group was significantly better than that of control group ( P <0.05 ) . The incidence of adverse drug reactions in the treatment group was slightly lower than that of control group without statistically significant difference (56.67%vs 60.00%, P>0.05).Conclusion Atomoxetine hydrochloride has a definitive clinical efficacy for the treatment of ADHD combined with transient tic disorder, without increasing of the incidence of adverse drug reactions.

OBJECTIVETo systematically review the safety and efficacy of Qishen Yiqi Dripping Pill (QYDP) as a complementary treatment for chronic heart failure (CHF) patients.

METHODSCNKI, VIP, Wanfang Data, PubMed and Cochrane Library were retrieved for papers on randomized control trials of treating CHF patients by routine western medical treatment plus QYDP. The quality of inclusive literatures was assessed by methods from Cochrane Handbook. Valid data were extracted and analyzed by Meta-analysis using RevMan 5.1.0 Software.

RESULTSTotally 17 trials and 1840 patients in line with standard were included. Results of Meta-analysis showed, compared with the routine Western medical treatment group, additional use of QYDP could decrease re-admission rate [RR = 0.52, 95% CI (0.33, 0.81), P = 0.004] and the mortality rate, improve the clinical efficacy [RR = 1.18, 95% CI (1.12, 1.25), P < 0.01] and cardiac function [RR = 1.18, 95% CI (1.10, 1.27),P < 0.01], increase left ventricular ejection fraction (LVEF) [WMD = 5.57, 95% CI (4.16, 6.97), P < 0.01] of CHF patients. Subgroup analysis of LVEF showed that additional use of QYDP could further improve LVEF [ WMD = 8.34, 95% CI (6.23, 10.45), P < 0.01] of CHF patients and increase the distance of their 6-min walk test [WMD = 94.39, 95% CI (71.89, 116.89), P < 0.01]. But there was no statistical difference in plasma brain natriuretic peptide (BNP) between the two groups. No obvious adverse reaction and liver or kidney damage was reported during the trial.

CONCLUSIONSCompared with the Western medical treatment, additional use of QYDP was safe and could further improve clinical efficacy. However, larger and high-quality clinical trials are necessary for further evidence.

Chronic Disease ; Drugs, Chinese Herbal ; therapeutic use ; Heart Failure ; drug therapy ; Humans ; Randomized Controlled Trials as Topic

Objective To investigate the effects of docosahexaenoic acid (DHA) on large-conductance Ca2 + -activated K+ ( BKCa ) channels and voltage-dependent K+ ( Kv ) channels in rat coronary artery smooth muscle cells ( CASMCs ),and evaluate the vasorelaxation mechanisms of DHA.Methods BKCa and Kv currents in individual CASMC were recorded by patch-clamp technique in whole-cell configuration.Effects of DHA at various concentrations (0,10,20,40,60 and 80 μ mol/L) on BKCa and Kv channels were observed.Results ( 1 ) DHA enhanced IBKCa and BKCa tail currents in a concentration-dependent manner while did not affect the stably activated curves of IBKCa+ IBKCa current densities were (68.2±22.8),(72.4 ±24.5),(120.4 ±37.9),(237.5 ±53.2),(323.6 ±74.8) and (370.6 ±88.2 )pA/pF respectively (P ＜ 0.05,n =30) with the addition of 0,10,20,40,60 and 80 μmol/L DHA concentration,and half-effect concentration ( EC50 ) of DHA was (36.22 ± 2.17 ) μmol/L.(2) IKv and Kv tail currents were gradually reduced,stably activated curves of IKv were shift to the right,and stably inactivated curves were shifted to the left in the presence of DHA.IKv current densities were (43.9 ±2.3),(43.8±2.3),(42.9±2.0),(32.3±1.9),(11.7±1.5) and (9.6 ±1.2)pA/pF respectively(P＜0.05,n =30) post treatment with 0,10,20,40,60 and 80 μmol/L DHA under manding potential equal to +50 mV,and EC50 of DHA was (44.19 ±0.63) μmol/L.Conclusion DHA can activate BKCa channels and block Kv channels in rat CASMCs,the combined effects on BKCa and Kv channels lead to the vasodilation effects of DHA on vascular smooth muscle cells.

OBJECTIVETo compare the efficacy of valproic acid (VPA) and lamotrigine as a monotherapy for absence epilepsy in children.

METHODSA randomized, open-label design was used. Childhood absence epilepsy was diagnosed based on the presence of typical seizures and video-EEG findings. Eligible patients were randomly treated with VPA or lamotrigine. All patients were followed up for 12 months.

RESULTSForty-five out of 48 eligible children completed the study. There were 23 children in the VPA group and 22 children in the lamotrigine group. Seventeen children were seizure-free in the VPA group 12 months after treatment. Fifteen out of the 17 children showed normal EEG (no epileptic-formed discharge). Twelve children were seizure-free in the lamotrigine group 12 months after treatment. The proportion showing normal EEG in the lamotrigine group (6/22, 27.3%) was significantly lower than that in the VPA group (15/23, 65.2%) (P<0.05). Severe adverse effects were not found in both groups.

CONCLUSIONSBoth VPA and lamotrigine are safe and efficacious for treatment of absence seizures in children. VPA appears to be better than lamotrigine in tapering epileptic-formed discharge.

Anticonvulsants ; therapeutic use ; Child ; Child, Preschool ; Electroencephalography ; Epilepsy, Absence ; drug therapy ; physiopathology ; Female ; Humans ; Male ; Triazines ; adverse effects ; therapeutic use ; Valproic Acid ; adverse effects ; therapeutic use

OBJECTIVETo investigate the clinical characteristics of anti-HBc IgM positive chronic hepatitis B patients and the relation of anti-HBc IgM development to serum HBV DNA load and the state of HBeAg/anti-HBe.

METHODSThe clinical data were collected from patients with chronic hepatitis B hospitalized in the Infectious Diseases Hospital, Zhangjiakou city, and in Ditan Hospital, some of whom were anti-HBc IgM positive and some others were negative. Their HBV DNA load was examined by real-time PCR, and HBeAg/anti-HBe was detected by AXSYM auto-enzyme analyzer with the third generation EIA regent.

RESULTSTotally 200 patients were enrolled in this study. The number of patients with mild, moderate and severe hepatitis was 71, 83 and 46. The anti-HBc IgM positive patients were older and had longer course of disease than those of anti-HBc IgM negative patients. Of the anti-HBc IgM positive group, 45.71 percent and 54.29 percent had mild and moderate hepatitis, which were significantly different from those in the anti-HBc IgM negative patients (30.00 percent and 70.00 percent). But there was no difference between anti-HBc IgM positive and negative patients in serum HBV DNA level, the state of HBeAg/anti-HBe and outcome.

CONCLUSIONThe anti-HBc IgM state of chronic hepatitis B patients was related to the severity of hepatitis, but not with virus load and state of HBeAg/anti-HBe.

Adult ; DNA, Viral ; blood ; genetics ; Female ; Hepatitis B Antibodies ; blood ; Hepatitis B Core Antigens ; immunology ; Hepatitis B virus ; genetics ; immunology ; physiology ; Hepatitis B, Chronic ; immunology ; virology ; Humans ; Immunoglobulin M ; blood ; Male ; Middle Aged ; Viral Load ; Young Adult