Mutations in myosin heavy chain 7(MYH7)and myosin binding protein C3(MYBPC3)genes encoding thick filaments are the main cause of hypertrophic cardiomyopathy(HCM),while a small part of HCM is caused by mutations of troponin C1,slow skeletal and cardiac type(TNNC1),troponin T2,cardiac type(TNNT2),troponin I3,cardiac type(TNNI3),actin alpha cardiac muscle 1(ACTC1),and tropomyosin 1(TPM1)genes encoding thin filaments.In this review,we mainly introduce the detailed mechanism and research status of HCM caused by mutations of the gene encoding cardiomyocyte sarcomere in the past few years,in order to provide reference for further study of the pathogenesis and treatment of HCM.

Purpose: Few studies have examined the effect of diabetes mellitus (DM) on patients with coronary artery disease. The relationships between quality of life (QoL), risk factors, and DM of patients receiving percutaneous coronary interventions (PCIs) are poorly understood. We investigated the influence of DM on fatigue and QoL over time among patients receiving PCIs. Methods: An observational cohort study with a longitudinal, repeated-measures design was used to investigate fatigue and QoL among 161 Taiwanese patients with coronary artery disease with/without DM who received primary PCIs between February and December 2018. Participants provided demographic information and their Dutch Exertion Fatigue Scale and the 12-Item Short-Form Health Survey scores before the PCI and two weeks, three months, and six months post-discharge. Results: Seventy-seven PCI patients were in the DM group (47.8%; mean age = 67.7 [SD = 10.4] years). The mean scores of fatigue, physical component scale (PCS), and mental component scale (MCS) were 7.88 (SD = 6.74), 40.74 (SD = 10.05), and 49.44 (SD = 10.57), respectively. DM did not affect the magnitude of change in fatigue or QoL over time. Patients with DM perceived similar fatigue as those without DM before PCI and two weeks, three and six months post-discharge. Patients with DM perceived lower psychological QoL than those without DM two weeks post-discharge. Compared to pre-surgery scores, patients without DM perceived lower fatigue at two weeks, three months, and six months post-discharge, and higher physical QoL at three- and six-months post-discharge. Conclusions Compared with DM patients, patients without DM had higher pre-intervention QoL and better psychological QoL two weeks post-discharge, and DM did not influence fatigue or QoL of patients receiving PCIs over six months. DM may affect patients in the long term; therefore, nurses should educate patients to regularly take medication, maintain proper habits, notice comorbidities, and follow rehabilitation regimes after PCIs to improve prognosis.Keywords

Objective: To investigate the incidence and trend of short-term outcomes among preterm infants born <34 weeks' gestation. Methods: A secondary analysis of data from the standardized database established by a multicenter cluster-randomized controlled study "reduction of infection in neonatal intensive care units (NICU) using the evidence-based practice for improving quality (REIN-EPIQ) study". This study was conducted in 25 tertiary NICU. A total of 27 192 infants with gestational age <34 weeks at birth and admitted to NICU within the first 7 days of life from May 2015 to April 2018 were enrolled. Infants with severe congenital malformation were excluded. Descriptive analyses were used to describe the mortality and major morbidities of preterm infants by gestational age groups and different admission year groups. Cochran-Armitage test and Jonckheere-Terpstra test were used to analyze the trend of incidences of mortality and morbidities in 3 study-years. Multiple Logistic regression model was constructed to analyze the differences of outcomes in 3 study-years adjusting for confounders. Results: A total of 27 192 preterm infants were enrolled with gestational age of (31.3±2.0) weeks at birth and weight of (1 617±415) g at birth. Overall, 9.5% (2 594/27 192) of infants were discharged against medical advice, and the overall mortality rate was 10.7% (2 907/27 192). Mortality for infants who received complete care was 4.7% (1 147/24 598), and mortality or any major morbidity was 26.2% (6 452/24 598). The incidences of moderate to severe bronchopulmonary dysplasia, sepsis, severe intraventricular hemorrhage or periventricular leukomalacia, proven necrotizing enterocolitis, and severe retinopathy of prematurity were 16.0% (4 342/27 192), 11.9% (3 225/27 192), 6.8% (1 641/24 206), 3.6% (939/25 762) and 1.5% (214/13 868), respectively. There was a decreasing of the overall mortality (P<0.001) during the 3 years. Also, the incidences for sepsis and severe retinopathy of prematurity both decreased (both P<0.001). However, there were no significant differences in the major morbidity in preterm infants who received complete care during the 3-year study period (P=0.230). After adjusting for confounders, infants admitted during the third study year showed significantly lower risk of overall mortality (adjust OR=0.62, 95%CI 0.55-0.69, P<0.001), mortality or major morbidity, moderate to severe bronchopulmonary dysplasia, sepsis and severe retinopathy of prematurity, compared to those admitted in the first study year (all P<0.05). Conclusions: From 2015 to 2018, the mortality and major morbidities among preterm infants in Chinese NICU decreased, but there is still space for further efforts. Further targeted quality improvement is needed to improve the overall outcome of preterm infants.
Bronchopulmonary Dysplasia/epidemiology* ; Gestational Age ; Humans ; Infant ; Infant Mortality/trends* ; Infant, Newborn ; Infant, Premature ; Infant, Premature, Diseases/epidemiology* ; Patient Discharge ; Retinopathy of Prematurity/epidemiology* ; Sepsis/epidemiology*

Objective: To investigate the relationship between body mass index (BMI) and sexual development in Chinese children. Methods: A nationwide multicenter and population-based large cross-sectional study was conducted in 13 provinces, autonomous regions and municipalities of China from January 2017 to December 2018. Data on sex, age, height, weight were collected, BMI was calculated and sexual characteristics were analyzed. The subjects were divided into four groups based on age, including ages 3-<6 years, 6-<10 years, 10-<15 years and 15-<18 years. Multiple Logistic regression models were used for evaluating the associations of BMI with sexual development in children. Dichotomous Logistic regression was used to compare the differences in the distribution of early and non-early puberty among normal weight, overweight and obese groups. Curves were drawn to analyze the relationship between the percentage of early puberty and BMI distribution in girls and boys at different Tanner stages. Results: A total of 208 179 healthy children (96 471 girls and 111 708 boys) were enrolled in this study. The OR values of B2, B3 and B4+ in overweight girls were 1.72 (95%CI: 1.56-1.89), 3.19 (95%CI: 2.86-3.57), 7.14 (95%CI: 6.33-8.05) and in obese girls were 2.05 (95%CI: 1.88-2.24), 4.98 (95%CI: 4.49-5.53), 11.21 (95%CI: 9.98-12.59), respectively; while the OR values of G2, G3, G4+ in overweight boys were 1.27 (95%CI: 1.17-1.38), 1.52 (95%CI: 1.36-1.70), 1.88 (95%CI: 1.66-2.14) and in obese boys were 1.27 (95%CI: 1.17-1.37), 1.59 (95%CI: 1.43-1.78), and 1.93 (95%CI: 1.70-2.18) (compared with normal weight Tanner 1 group,all P<0.01). Analysis in different age groups found that OR values of obese girls at B2 stage and boys at G2 stage were 2.02 (95%CI: 1.06-3.86) and 2.32 (95%CI:1.05-5.12) in preschool children aged 3-<6 years, respectively (both P<0.05). And in the age group of 6-10 years, overweight girls had a 5.45-fold risk and obese girls had a 12.54-fold risk of B3 stage compared to girls with normal BMI. Compared with normal weight children, the risk of early puberty was 2.67 times higher in overweight girls, 3.63 times higher in obese girls, and 1.22 times higher in overweight boys, 1.35 times higher in obese boys (all P<0.01). Among the children at each Tanner stages, the percentage of early puberty increased with the increase of BMI, from 5.7% (80/1 397), 16.1% (48/299), 13.8% (27/195) to 25.7% (198/769), 65.1% (209/321), 65.4% (157/240) in girls aged 8-<9, 10-<11 and 11-<12 years, and 6.6% (34/513), 18.7% (51/273), 21.6% (57/264) to 13.3% (96/722), 46.4% (140/302), 47.5% (105/221) in boys aged 9-<10, 12-<13 and 13-<14 years, respectively. Conclusions: BMI is positively correlated with sexual development in both Chinese boys and girls, and the correlation is stronger in girls. Obesity is a risk factor for precocious puberty in preschool children aged 3-<6 years, and 6-<10 years of age is a high risk period for early development in obese girls.
Adolescent ; Body Mass Index ; Child ; Child, Preschool ; China/epidemiology* ; Cross-Sectional Studies ; Female ; Humans ; Male ; Obesity/epidemiology* ; Overweight/epidemiology* ; Puberty ; Puberty, Precocious ; Sexual Development

Objective: To explore the heterogeneity and correlation of clinical phenotypes and genotypes in children with disorders of sex development (DSD). Methods: A retrospective study of 1 235 patients with clinically proposed DSD in 36 pediatric medical institutions across the country from January 2017 to May 2021. After capturing 277 DSD-related candidate genes, second-generation sequencing was performed to analyzed the heterogeneity and correlation combined with clinical phenotypes. Results: Among 1 235 children with clinically proposed DSD, 980 were males and 255 were females of social gender at the time of initial diagnosis with the age ranged from 1 day of age to 17.92 years. A total of 443 children with pathogenic variants were detected through molecular genetic studies, with a positive detection rate of 35.9%. The most common clinical phenotypes were micropenis (455 cases), hypospadias (321 cases), and cryptorchidism (172 cases) and common mutations detected were in SRD5A2 gene (80 cases), AR gene (53 cases) and CYP21A2 gene (44 cases). Among them, the SRD5A2 mutation is the most common in children with simple micropenis and simple hypospadias, while the AMH mutation is the most common in children with simple cryptorchidism. Conclusions: The SRD5A2 mutation is the most common genetic variant in Chinese children with DSD, and micropenis, cryptorchidism, and hypospadias are the most common clinical phenotypes. Molecular diagnosis can provide clues about the biological basis of DSD, and can also guide clinicians to perform specific clinical examinations. Target sequence capture probes and next-generation sequencing technology can provide effective and economical genetic diagnosis for children with DSD.
3-Oxo-5-alpha-Steroid 4-Dehydrogenase/genetics* ; Child ; China/epidemiology* ; Cryptorchidism/genetics* ; Disorders of Sex Development/genetics* ; Female ; Genital Diseases, Male ; Genotype ; Humans ; Hypospadias/genetics* ; Male ; Membrane Proteins/genetics* ; Penis/abnormalities* ; Phenotype ; Retrospective Studies ; Steroid 21-Hydroxylase/genetics*

ObjectiveTo analyze the clinical characteristics of brucellosis patients from two tertiary hospitals in epidemic and non-epidemic areas. MethodsThe clinical data of 67 brucellosis patients hospitalized in The Affiliated Kashi Hospital of Sun Yat-sen University （Kashi， 53） and The Third Affiliated Hospital of Sun Yat-sen University （Guangzhou， 14） from January 2019 to December 2019 were retrospectively reviewed， including demographic data， medical history， symptoms， signs， laboratory tests and treatment， and the differences between the two groups were compared. ResultsThere were 23 patients in Kashi and 11 patients in Guangzhou with definite epidemiological history， respectively （P = 0.019）. Fever， fatigue and arthralgia were the most common symptoms of brucellosis. In addition to anorexia， the onset symptoms of patients in the two hospitals were roughly the same. The incidence of fever， muscle pain and fever peak was similar， but the symptoms of hyperhidrosis， fatigue， arthralgia and rash in Kashi were more common in Guangzhou. There were cases of hepatosplenomegaly in both hospitals， but there was no obvious superficial lymphedema. Complications occurred in 39（73.6%） and 11（78.6%） patients in Kashi and Guangzhou， respectively， with no statistical difference （P =0.971）， and hepatitis and bone damage were the most common. The incidence of spondylitis （P =0.042） and neurodegenerative brucellosis （P =0.041） in Guangzhou was higher than that in Kashi， and there was no significant difference in other complications. Of the patients in Kashi， 7.5 % were treated with single antibiotics， and 59.7 % were with dual therapy， which were higher than those in Guangzhou （0， 50.0 %）. The proportion of the triple scheme in Guangzhou was higher than that of Kashi （50.0 % vs. 11.3 %）. ConclusionsThe clinical characteristics of brucellosis in different regions are generally similar， but there are some differences in epidemiological history， symptoms， complications and treatment options. The characteristics of local cases should be concerned in clinical practice to reduce misdiagnosis of brucellosis.

OBJECTIVE: To analyze the clinical characteristics and treatment effects of children with acute megakaryoblastic leukemia without down syndrome (non-DS-AMKL). METHODS: The clinical data of 19 children with non-DS-AMKL treated in the Pediatric Hematology Ward in Sun Yat-sen Memorial Hospital of Sun Yat-sen University from May 2008 to April 2018 were analyzed retrospectively. The clinical characteristics, laboratory test and treatment methods of the children were concluded. All patients were followed up to evaluate the effect of treatment. RESULTS: The 19 cases of children included nine male and ten female, the median age of onset was 2 years old. The clinical manifestations showed nonspecific. The median white blood cell of peripheral blood was 15.88×10 CONCLUSION Non-DS-AMKL was rare in children and difficult to be diagnosed. Determination of MICM classification as early as possible was helpful for diagnosis, and genetic testing played an important role for diagnosis and prognosis evaluation. Early hematopoietic stem cell transplantation in patients with CR after chemotherapy might be an effective way to cure AMKL.
Child ; Child, Preschool ; DEAD-box RNA Helicases ; DNA Helicases ; Down Syndrome ; Female ; Humans ; Leukemia, Megakaryoblastic, Acute/genetics* ; Male ; Prognosis ; Retrospective Studies ; Trisomy

OBJECTIVE: To investigate the effects of long-term and low dose ionizing radiation on ocular lens opacities of residents living in areas with high natural radiation background(HNRB) in Yangjiang City, China. METHODS: A total of 483 Han residents from Yangjiang City(HNRB area) and 517 from Enping City(control area) were selected as study subjects using a cluster random sampling method. Questionnaire survey and lens examination were carried out. The risk factors of lens opacity and its severity were analyzed by logistic regression analysis. RESULTS: The prevalence rates of lens opacity, cortical opacity and posterior subcapsular opacity in HNRB area were higher than those in control area(60.7% vs 51.6%, 53.4% vs 46.8%, 21.9% vs 9.3%, all P<0.05). There was no significant difference in karyotype turbidity between HNRB area and control area(52.4% vs 47.6%, P>0.05). After adjusting for confounding factors including age, gender, cardiovascular/metabolic diseases, smoking, alcohol drinking and tea drinking, the unconditional logistic regression analysis results showed that the risk of ocular opacity, cortical opacity and posterior subcapsular opacity in residents of HNRB area was higher than that in control area(all P<0.05). Multivariate disordered logistic regression analysis results showed that residents in the HNRB area had a higher risk of grade two karyotype turbidity than grade one karyotype turbidity(P<0.01). Ordered logistic regression analysis results showed that residents in HNRB area had an increased risk of developing severe cortical turbidity(P<0.01). CONCLUSION: Long-term and low dose ionizing radiation exposure may increase the risk of ocular lens opacity, especially cortical and posterior subcapsular cataract, and affect the severity of the disease.

Objective To explore the mechanism underlying a selective liver nitric oxide donor V-PYRRO/NO effects on the gene expression of LTC4 synthase(LTC4S) during hepatic ischemia reperfusion(I/R).Methods Adult male SD rats were divided into 3 groups:control group(sham),ischemic-reperfusion group(I/R) and V-PYRRO/NO group. Liver subjected to 1 hour of partial hepatic ischemia followed by 5 hours of reperfusion, saline or V-PYRRO/NO[1.06 mmol/(kg·h)] administered intravenously. The mRNA expression of LTC4S in rat liver was examined by RT-PCR method,the protein expressions of NF-κB p65,p50 and IκB in liver cell lysates and nu-clear extracts were detected by Western blot analysis. Results Hepatic mRNA expression of LTC4S in I/R group was higher than that in sham group(P<0.05), whereas it was lower in V-PYRRO/NO group than that in I/R group(P<0.05). Moreover,compared with sham group,the protein expressions of NF-κB p65 and p50 in nucleus extract were markedly increased(P<0.01) but significantly decreased in cytoplasm(P<0.01) in I/R group. V-PYRRO/NO reversed completely the increase of these protein expressions in nucleus extract (P<0.05) and the decrease of them in cytoplasm(P<0.01,P<0.05) during hepatic I/R injury.However,IκB protein in three groups did not change. Immunohistochemistry staining revealed that no marked positive staining for NF-κB p65 was found in sham liver,I/R liver exhibited strong cytoplasmic and nuclear positive staining for NF-κB p65,but V-PYRRO/NO I/R group liver presented slight cytoplasmic and nuclear staining. Conclusions V-PYRRO/NO may down-regulate LTC4S mRNA expression by inhibiting NF-κB activation independent of IκB during hepatic I/R injury.

OBJECTIVEThis study aimed to investigate the depression status among high-risk pregnancy women, and to analyze its relevant social and psychological factors.

METHODSA total of 42 high-risk pregnancy women and 40 normal pregnancy women in a teaching hospital in Harbin city were followed up at time points of 32 - 36 weeks pregnancy, one week before labor, one week postpartum, and six weeks postpartum, respectively. During follow-up, the basic situation, social psychosocial factors of pregnancy women were collected and the depression of pregnancy women was measured by self-designed questionnaire and self-rating depression scale. The Edinburgh Postnatal Depression Scale (EPDS) was applied at timepoint of one week postpartum. Single factor analysis and the unconditional multivariate logistic regression were applied for analyzing the on the related social-psychosocial factors among high-risk pregnancy women.

RESULTSThe age of high-risk pregnancy women was (31.0±5.6), and the age of normal pregnancy women was (30.5±3.8) (t=0.169, P>0.05). The results showed that the depression rate in high-risk pregnancy women was 45.2% (19/42), which was 25.0% (10/40) in normal pregnancy women, the difference was significant (χ2=3.671, P=0.045). The depression rates at different time points were 30.9% (13/42), 42.9% (18/42), 23.8% (10/42), 26.2% (11/42) in high-risk pregnancy women respectively, and 25.0% (10/40), 15.0% (6/40), 20.0% (8/40), 17.5% (7/40) in the control group respectively, the difference of the depression rates among groups at one week before labor was significant (χ2=7.680, P<0.01), the difference among groups at 32-36 weeks pregnancy (χ2=0.133, P=0.80), at one week postpartum (χ2=0.174, P=0.79) and at six weeks postpartum (χ2=0.903, P=0.43) were not significant. At one week postpartum and six weeks postpartum periods, the EPDS depression rate were 12.5% (4/32), 30.4% (7/23) in case group respectively, 8.3% (3/36), 22.9% (8/35) in control group respectively, the difference were not significant (χ2=0.319, 0.416, P=0.573, 0.519). There were significantly associations between the depression mood of one week before labor and the depressive symptoms of six weeks postpartum in both groups (r=0.824, 0.677, both P values were <0.05). The risk factors for maternal depression among high-risk pregnancy women were not ready for production (OR=2.73, P<0.01) and fearing of childbirth safety (OR=2.89, P<0.01).

CONCLUSIONThe depression date of high-risk pregnancy was high, especially at the time point one week before labor. Risk factors of maternal depression among high-risk pregnancy were "not ready for production" and "fear of childbirth safety".

Adult ; China ; epidemiology ; Cohort Studies ; Depression ; epidemiology ; psychology ; Depression, Postpartum ; epidemiology ; psychology ; Female ; Humans ; Logistic Models ; Postpartum Period ; psychology ; Pregnancy ; Pregnancy Complications ; epidemiology ; psychology ; Pregnancy, High-Risk ; psychology ; Risk Factors