A total of 1 159 measles cases were reported in Zhuhai City from 2005 to 2022, with an average annual incidence rate of 4.21/10 5 (0-30.51/10 5). The M( Q1, Q3) age of the cases was 6.10 years old (10 months,23.20 years old), with the youngest cases being 2 months and the oldest age of 55 years old. The distribution of cases by age group was as follows: individuals aged18 years and older (34.94%), 8-23 months (22.95%), 2-6 years old (16.74%), 7-17 years old(12.86%) and infants under 8 months (12.51%), respectively. The primary groups affected by the disease included scattered children, workers, and students. The regional distribution exhibited distinct clustering characteristics in urban areas or streets with a high concentration of the migrant population. Following the initiation of Measles-containing Vaccine Supplementary Immunization Activities (MCV SIA) in 2009, the incidence of measles in Zhuhai City has significantly decreased, and there is no evident seasonal distribution of cases.

Objective To compare the benefits and drawbacks of primary patch expansion versus pericardial tube right ventricular-pulmonary artery connection in patients diagnosed with pulmonary atresia with ventricular septal defect (PA/VSD). Methods A retrospective study was conducted on patients diagnosed with PA/VSD who underwent primary right ventricular-pulmonary artery connection surgery at our center between 2010 and 2020. Patients were categorized into two groups based on the type of right ventricular-pulmonary artery connection: a pericardial tube group and a patch expansion group. Clinical data and imaging findings were compared between the two groups. Results A total of 51 patients were included in the study, comprising 31 males and 20 females, with a median age of 12.57 (4.57, 49.67) months. The pericardial tube group included 19 patients with a median age of 17.17 (7.33, 49.67) months, while the patch expansion group consisted of 32 patients with a median age of 8.58 (3.57, 52.72) months. In both groups, the diameter of pulmonary artery, McGoon index, and Nakata index significantly increased after treatment (P<0.001). However, the pericardial tube group exhibited a longer extracorporeal circulation time (P<0.001). The reoperation rate was notably high, with 74.51% of patients requiring further surgical intervention, including 26 (81.25%) patients in the patch expansion group and 12 (63.16%) patients in the pericardial tube group. No statistical differences were observed in long-term cure rates or mortality between the two groups (P＞0.005). Conclusion In patients with PA/VSD, both patch expansion and pericardial tube right ventricular-pulmonary artery connection serve as effective initial palliative treatment strategies that promote pulmonary vessel development and provide a favorable foundation for subsequent radical operations. However, compared to the pericardial tube approach, the patch expansion technique is simpler to perform and preserves some intrinsic potential for pulmonary artery development, making it the preferred procedure.

This study aims to describe the population and regional distribution characteristics of smoking behavior among adult twins in the China Twin Registry (CNTR), as well as the concordance rates for smoking behavior in monozygotic and dizygotic twins, and estimate the heritability. The study population included adult twins in CNTR who had smoking questionnaire data. A random-effects regression model was used to describe the distribution of smoking behavior among different subgroups based on various characteristics. The concordance of smoking behavior between different zygosity groups was calculated, and heritability was estimated. A total of 28 444 twin pairs were included in this study, with an average age of (36.6±12.0) years. Among male twins, 41.2% were current smokers, while only 1.2% of females smoked. Higher smoking rates were observed among male smokers in the 50-59 age group ( z=23.0, P<0.001), northern regions ( z=2.9, P<0.01), rural areas ( z=-5.2, P<0.001), those who were divorced/widowed ( z=3.8, P<0.001), and first-born twins ( z=-4.3, P<0.001), while lower smoking rates were found in those with higher education ( z=-16.1, P<0.001) and unmarried individuals ( z=-16.0, P<0.001). The smoking concordance rate for male monozygotic twins was 69.6%, significantly higher than the 57.3% concordance rate for dizygotic twins ( χ 2=105.0, P<0.05). The heritability of smoking behavior in male twins was estimated at 28.9% (95% CI: 24.3%-33.4%). Stratified analyses showed differences in heritability across regions and age groups: the heritability in northern regions was 32.6% (95% CI: 27.3%-38.0%), higher than the 21.0% (95% CI: 12.4%-29.5%) observed in southern regions; the highest heritability of 35.1% (95% CI: 26.3%-43.9%) was found in the 18-29 age group, with heritability decreasing with age. In conclusion, the smoking rate and influencing factors in the twin population are similar to those in the general population, with unique characteristics, such as higher smoking rates in first-born twins. Genetic factors have a significant impact on smoking behavior.

A total of 1 159 measles cases were reported in Zhuhai City from 2005 to 2022, with an average annual incidence rate of 4.21/10 5 (0-30.51/10 5). The M( Q1, Q3) age of the cases was 6.10 years old (10 months,23.20 years old), with the youngest cases being 2 months and the oldest age of 55 years old. The distribution of cases by age group was as follows: individuals aged18 years and older (34.94%), 8-23 months (22.95%), 2-6 years old (16.74%), 7-17 years old(12.86%) and infants under 8 months (12.51%), respectively. The primary groups affected by the disease included scattered children, workers, and students. The regional distribution exhibited distinct clustering characteristics in urban areas or streets with a high concentration of the migrant population. Following the initiation of Measles-containing Vaccine Supplementary Immunization Activities (MCV SIA) in 2009, the incidence of measles in Zhuhai City has significantly decreased, and there is no evident seasonal distribution of cases.

This study aims to describe the population and regional distribution characteristics of smoking behavior among adult twins in the China Twin Registry (CNTR), as well as the concordance rates for smoking behavior in monozygotic and dizygotic twins, and estimate the heritability. The study population included adult twins in CNTR who had smoking questionnaire data. A random-effects regression model was used to describe the distribution of smoking behavior among different subgroups based on various characteristics. The concordance of smoking behavior between different zygosity groups was calculated, and heritability was estimated. A total of 28 444 twin pairs were included in this study, with an average age of (36.6±12.0) years. Among male twins, 41.2% were current smokers, while only 1.2% of females smoked. Higher smoking rates were observed among male smokers in the 50-59 age group ( z=23.0, P<0.001), northern regions ( z=2.9, P<0.01), rural areas ( z=-5.2, P<0.001), those who were divorced/widowed ( z=3.8, P<0.001), and first-born twins ( z=-4.3, P<0.001), while lower smoking rates were found in those with higher education ( z=-16.1, P<0.001) and unmarried individuals ( z=-16.0, P<0.001). The smoking concordance rate for male monozygotic twins was 69.6%, significantly higher than the 57.3% concordance rate for dizygotic twins ( χ 2=105.0, P<0.05). The heritability of smoking behavior in male twins was estimated at 28.9% (95% CI: 24.3%-33.4%). Stratified analyses showed differences in heritability across regions and age groups: the heritability in northern regions was 32.6% (95% CI: 27.3%-38.0%), higher than the 21.0% (95% CI: 12.4%-29.5%) observed in southern regions; the highest heritability of 35.1% (95% CI: 26.3%-43.9%) was found in the 18-29 age group, with heritability decreasing with age. In conclusion, the smoking rate and influencing factors in the twin population are similar to those in the general population, with unique characteristics, such as higher smoking rates in first-born twins. Genetic factors have a significant impact on smoking behavior.

【Objective】 To analyze the genetic variation characteristics and clinical phenotypes of a family with primary microcephaly (MCPH) caused by RTTN gene variation, and to provide reference for genetic counseling and prenatal diagnosis. 【Methods】 Clinical data of the three patients (including 2 fetuses and 2-year-old proband,and one fetus with clinical diagnosis) and their parents were collected and analyzed. Two of the children and their parents were tested by trio whole exome sequencing (trio-WES), sanger sequencing validation sites, and the hazard of their compound heterozygous variants was predicted. Literature review was conducted through domestic and international databases to collect reported RTTN gene mutation cases. 【Results】 Three patients in this family had anomalies of the septum pellucidum, hypoplasia of the corpus callosum and other brain malformations during fetal period. The proband (G2) and fetus (G3) showed intrauterine growth retardation and MCPH in late pregnancy; besides, G2 was born with global developmental delay. Trio-WES detected a c.2101(exon16)C>T(p.Arg701Ter,1526) nonsense and a c.2863(exon22)G>A(p.Glu955Lys)missense in the RTTN gene of G2 and G3, which were inherited from their father and mother, forming a compound heterozygous variant. According to the American College of Medical Genetics and Genomics (ACMG) variant classification guidelines, two variants were likely to be pathogenic (LP) and uncertain significance (VUS). Among them, c.2863(exon22)G>A was a newly discovered missense, which was predicted by the software to be harmful to the gene product. 【Conclusions】 Complex heterozygous variations of RTTN gene (c.2101C>T and c.2863G>A) are the genetic cause of MCPH in this family. This report has enriched the variation spectrum of RTTN gene, provided guidance for prenatal diagnosis and reproduction of this family, as well as material and reference for further understanding of the diseases caused by this gene mutation.

OBJECTIVE: To explore the genetic basis for a child with unexplained global developmental delay (GDD), seizure, and facial deformity. METHODS: Whole exome sequencing (WES) was carried out for the patient. Candidate variants were verified by Sanger sequencing of the patient and his parents. RESULTS: WES revealed that the patient has carried a previously unreported de novo heterozygous nonsense c.4906C>T (p.Arg1636Ter) variant of the KMT2A gene, Based on the American College of Medical Genetics and Genomics standards and guidelines, the c.4906C>T variant of KMT2A gene was predicted to be pathogenic (PVS1+ PS2+ PM2+PP3). CONCLUSION The heterozygous nonsense c.4906C>T (p.Arg1636Ter) variant of the KMT2A gene probably underlay the disease in the child. Above finding has enriched the spectrum of pathogenic variants of the KMT2A gene.
Abnormalities, Multiple/genetics* ; Child ; Histone-Lysine N-Methyltransferase/genetics* ; Humans ; Intellectual Disability/genetics* ; Male ; Myeloid-Lymphoid Leukemia Protein/genetics* ; Syndrome

COVID-19 pandemic caused by SARS-CoV-2 infection severely threatens global health and economic development. No effective antiviral drug is currently available to treat COVID-19 and any other human coronavirus infections. We report herein that a macrolide antibiotic, carrimycin, potently inhibited the cytopathic effects (CPE) and reduced the levels of viral protein and RNA in multiple cell types infected by human coronavirus 229E, OC43, and SARS-CoV-2. Time-of-addition and pseudotype virus infection studies indicated that carrimycin inhibited one or multiple post-entry replication events of human coronavirus infection. In support of this notion, metabolic labelling studies showed that carrimycin significantly inhibited the synthesis of viral RNA. Our studies thus strongly suggest that carrimycin is an antiviral agent against a broad-spectrum of human coronaviruses and its therapeutic efficacy to COVID-19 is currently under clinical investigation.

Objective To investigate the influence and significance of methylprednisolone(MP) on the genetic expression and distribution of peripheral blood mononuclear cells (PBMCs) IL-23 and IL-17 as well as Th17 and Treg in patients with ankylosing spondylitis (AS). Methods 30 patients in the active period of ASwere selected as study group and treated with short-term and high-dose MP. The treatment regimen was 2. 5-4 mg/kg, Qd, 3-4 d/course, 3-4 d interval and 2-3 courses. 30 healthy persons were selected as control group and given isometric normal saline by the same administration time and method. RT-PCRtest was used to assess the expression of PBMCs IL-23 P19 mRNAand IL17AmRNA, and FCMwas used to assess the cell distributions of PBMCs Th17 and Treg in control group and study group before and after treatment. Associations of them with clinical symptoms and indicators of disease activity were analyzed. Results 1. Cell distribution of Th17 and genetic expression of IL-23 and IL-17 in study group were higher than those in control group, and positively associated with BASDAI, hypnalgia, erythrocyte sedimentation rate(ESR) and CRP. Cell distribution of Treg in study group was lower than that in control group, and negatively associated with indicators mentioned above. 2. In study group, cell distribution of Th17, genetic expression of IL-23 and genetic expression of IL-17 were positively associated with each other, and the genetic expression of IL-23 and the cell distribution of Th17 were negatively associated with the cell distribution of Treg respectively. 3. In study group, BASDAI, BASFI, hypnalgia, ESRand CRPafter treatment were lower than those before treatment while cell distribution of Treg after treatment was higher than that before treatment. All the differences above were statistically significant. Conclusion The axis of IL-23/IL-17 and the unbalance of Th17/Treg could be involved in the attack and disease activity of AS. MPcould improve the clinical symptoms of ASand reduce the disease activity by inhibiting the secretion of proinflammatory factors IL-23 and IL-17, and correcting the unbalance of Th17/Treg.

Objectives Brain atrophy plays a key role in post-stroke dementia. The current study aims to explore risk factors for brain atrophy in different regions in order to find the ultimate therapeutic strategy. Methods Consecutive stroke and/or transient ischemic attack (TIA) patients were recruited from July 2012 to June . The clinical features, neuro?imaging findings and risk factors were collected during hospitalization. Logistic regression analysis showed that, except for age, female gender (Odds ratio, OR=2.447, P=0.007) and the number of silent lacuna infarcts (OR=1.414, P=0.027) were independent risk factors for frontal lobe atrophy. Ischemic stroke history (OR=2.224, P=0.024) was the independent risk factor for parietal lobe atrophy. All of extra-/intracranial larger artery diseases (OR=2.584, P=0.015) and white mat?ter severity score (OR=1.112, P=0.007) as well as the number of silent lacuna infarcts (OR=1.158,P=0.042) were inde?pendent risk factors for medial temporal lobe atrophy. Moreover, diabetes (OR=2.109, P=0.001),atrial fibrillation (OR=1.934, P=0.015) and white matter severity score (OR=1.098, P=0.002) were independent risk factors for global brain atro? phy. Conclusion Risk factors for brain atrophy included diabetes,atrial fibrillation, silent lacuna infarcts and white mat?ter changes. We should pay more attention to those patients with above risk factors in order to slow down the progression of brain atrophy and also prevent them from dementia by early interventions.