To investigate the correlation between vitamin D nutritional status and insulin resistance in pubertal adolescents.

To investigate body composition and associated factors in adolescents undergoing long-term regular sports training.

Objective To analyze the clinical characteristics associated with prenatal diagnosis of FBN 1 gene mutations in a family.This study explores the correlation between gene mutations and their corresponding clini-cal phenotypes,emphasizing the significance of prenatal diagnosis in providing a foundation for subsequent follow-up and intervention.Methods Genomic DNA was extracted from the amniotic fluid of the fetus and the peripheral blood of the parents for trio-whole exome sequencing.The candidate variant identified was subsequently validated using Sanger sequencing.Results The pedigree comprised four generations and nine family members,with four individuals exhibiting slender limbs and toes.Among these,three showed congenital lens dislocation or subluxation.No abnormalities in the cardiovascular system were observed.Genetic testing of symptomatic individuals revealed a heterozygous mutation(c.6158G>T)in the FBN 1 gene.Conclusions The FBN 1 c.6158G>T(p.C2053F)muta-tion was identified as the pathogenic variant responsible for the condition in this family,exhibiting autosomal domi-nant inheritance.To our knowledge,this is the first reported case of the FBN 1 c.6158G>T(p.C2053F)mutation in China.Prenatal diagnosis can facilitate early confirmation of the condition and provide a foundation for subsequent in-terventions and follow-up care.

Objective To analyze the clinical characteristics associated with prenatal diagnosis of FBN 1 gene mutations in a family.This study explores the correlation between gene mutations and their corresponding clini-cal phenotypes,emphasizing the significance of prenatal diagnosis in providing a foundation for subsequent follow-up and intervention.Methods Genomic DNA was extracted from the amniotic fluid of the fetus and the peripheral blood of the parents for trio-whole exome sequencing.The candidate variant identified was subsequently validated using Sanger sequencing.Results The pedigree comprised four generations and nine family members,with four individuals exhibiting slender limbs and toes.Among these,three showed congenital lens dislocation or subluxation.No abnormalities in the cardiovascular system were observed.Genetic testing of symptomatic individuals revealed a heterozygous mutation(c.6158G>T)in the FBN 1 gene.Conclusions The FBN 1 c.6158G>T(p.C2053F)muta-tion was identified as the pathogenic variant responsible for the condition in this family,exhibiting autosomal domi-nant inheritance.To our knowledge,this is the first reported case of the FBN 1 c.6158G>T(p.C2053F)mutation in China.Prenatal diagnosis can facilitate early confirmation of the condition and provide a foundation for subsequent in-terventions and follow-up care.

ObjectiveTo evaluate the therapeutic effect of stewed Polygoni Multiflori Radix on androgenic alopecia （AGA） and study the treatment mechanism. MethodNinety-nine SPF-grade male C57BL/6J mice were randomized into control， model， positive drug （finasteride， 0.65 mg·kg^-1）， low （0.78 g·kg^-1）， medium （1.56 g·kg^-1）， and high （3.12 g·kg^-1）-dose stewed Polygoni Multiflori Radix， and Polygoni Multiflori Radix Praeparata groups by the random number table method. The mouse model of AGA was constructed by subcutaneous multi-point injection of testosterone propionate diluent for 60 days， and the mice were administrated with corresponding drugs by gavage from day 11. The therapeutic effects of stewed Polygoni Multiflori Radix and Polygoni Multiflori Radix Praeparata on AGA were evaluated by newly hair area， hair length， hair weight in the hair removal area， and hematoxylin-eosin staining. Enzyme-linked immunosorbent assay was employed to determine the levels of testosterone （T）， dihydrotestosterone （DHT）， and 5α-reductase （5-AR） in the skin tissue of mice. Western blot was employed to determine the expression levels of key proteins in the Wnt/β-catenin signaling pathway. ResultCompared with the control group， the model group （after 60 days of modeling） showed reductions in the newly hair area， hair length and weight in the back hair removal area， and ratio of hair follicles containing melanin to total hair follicles （P<0.05， P<0.01）， elevated levels of T， DHT， and 5-AR， up-regulated expression level of glycogen synthase kinase-3β （GSK-3β） （P<0.05， P<0.01）， and down-regulated expression levels of β-catenin， phospho-glycogen synthase kinase-3β （p-GSK-3β）， and p-GSK-3β/GSK-3β （P<0.05， P<0.01） in the skin tissue. Compared with the model group， the positive drug， low-， medium-， and high-dose stewed Polygoni Multiflori Radix， and low-， medium-， and high-dose Polygoni Multiflori Radix Praeparata improved the newly hair area and hair length of mice （P<0.01）， and stewed Polygoni Multiflori Radix and Polygoni Multiflori Radix Praeparata at low and medium doses improved the weight of newly formed hair in mice （P<0.05， P<0.01）. The positive drug， low-， medium-， and high-dose stewed Polygoni Multiflori Radix， and low- and high-dose Polygoni Multiflori Radix Praeparata increased the ratio of hair follicles containing melanin to total hair follicles in the skin tissue （P<0.05， P<0.01）. Compared with Polygoni Multiflori Radix Praeparata at the same doses， the medium and high doses of stewed Polygoni Multiflori Radix increased the ratio of melanin-containing hair follicles to total hair follicles （P<0.05）. Compared with the model group， stewed Polygoni Multiflori Radix lowered the levels of T and DHT， down-regulated the expression level of GSK-3β （P<0.01）， and up-regulated the expression levels of β-catenin， p-GSK-3β， and p-GSK-3β/GSK-3β （P<0.05， P<0.01） in the skin tissue of the mice. ConclusionStewed Polygoni Multiflori Radix can ameliorate androgenic alopecia in mice by reducing the androgen level and promoting Wnt/β-catenin signaling.

OBJECTIVE:To analyze and identify the metabolites of tuberostemonine in rats plasma,urine and feces,and to clarify metabolic pathway of tuberostemonine. METHODS:Rats were randomly divided into blank group(0.3% carboxymethyl cellulose)and medication group(tuberostemonine 50 mg/kg,i.g.),with 6 rats in each group.The plasma of rats was collected 0.25, 0.5,1,2,4,6,12 h after intragastric administration to prepare samples. Urine and feces were collected 0-12 h and 12-24 h after administration to prepare samples. UPLC-Q-TOF/MS and software of Triple TOFTMhigh resolution mass spectrometry were used to analyze and identifiy chemical structure of metabolites in samples. RESULTS:A total of 4 compounds were detected in rat plasma, including one prototype compound and 3 metabolites. 4 metabolites were detected in urine and 2 metabolites in feces. Phase Ⅰmetabolites of tuberostemonine mainly included hydration and hydroxylation. Phase Ⅱ metabolites were not found. CONCLUSIONS:Hydration and hydroxylation are the major metabolic transformation forms of tuberostemonine in rats in vivo.

Objective To summarize the echocardiographic features of fetal absent pulmonary valve syndrome (APVS).Methods Clinical data and echocardiograms of 12 cases of fetal APVS prenatally diagnosed in the Department of Pediatric Cardiology,Guangdong Cardiovascular Institute from July 2015 to April 2017 were reviewed retrospectively and the echocardiographic features of APVS were summarized.Results Aneurysmal dilation of the main pulmonary artery and branches arteries were found in all cases,causing tracheal and esophageal compression in one case and lung compression in two cases.Color Doppler revealed systolic and diastolic turbulent blood flow with "to-and-fro" blood flow in pulmonary arteries and pulmonary regurgitation.All fetuses were situs solitus and atrioventricular concordance.Eleven cases were also identified with malposition of the great arteries accompanied with ventricular septal defect,while the other one with normally related great arteries and intact ventricular septum was diagnosed with dysplasia of distal left pulmonary artery and pericardial effusion.Absent ductus arteriosus,increased cardiothoracic ratio and myocardial hypertrophy were found in four,two and five cases,respectively.Fetal umbilical arterial systolic/diastolic ratio and resistance index of all cases were normal.Conclusions Typical APVS is characterized by absent or rudimentary pulmonary valve accompanied with prominant dilated pulmonary arteries,pulmonary valve stenosis and severe pulmonary regurgitation.It is usually accompanied by conotruncal defects,but attention should also be paid to other atypical cardiac abnormalities during screening.

Objective To develop the Chinese version of depression stigma scale ( DSS) and examine its reliability and validity .Methods The Chinese version of DSS was formed using the standard translation /retroversion method , and its reliability , content validity index ( CVI ) , construct validity , criterion-related validity ( CRV) and discriminant validity were examined subsequently .Results The Cronbach′s αcoefficient for Chinese version of DSS was 0.78 and the test-retest reliability of the scale was 0.74, which was correlated with perceived devaluation-discrimination scale(PDD) significantly (r=0.37,P<0.01).Conclusions The Chinese version of DSS has a good reliability and validity in general population , and can be used to evaluate public′s belief, cognition and behavior toward depression and patients with depression .

The TCM spirit cultivation theory of the old is both extensive and profound. It can not only provide guidance to the establishment of the TCM spirit cultivation system of the old under the aging background, but also provides vast development prospects to develop the TCM spirit cultiva-tion education of the old in medical college. Some particular measures to be taken are as the followings:to establish relevant courses about the TCM spirit cultivation education of the old as a specialty course for clinical medicine about gerontology, nursing and rehabilitation therapeutics; students participate in social practice program in community, retirement organization and geriatric ward; to integrate teaching resources and set up the excellent teachers' team;to ensure teaching process designs scientific, includ-ing the improvement of teaching methods, diversified styles of assessment and online courses design.

Objective To access the practicality and safety of a new type Balloon dilatation combined with flank supine position in percutaneous nephrolithotomy.Methods Clinical data of 60 kidney stones patients were collected and retrospectively analyzed.This group of patients had been admitted and selected according to the inclusion criteria in our institute from July.2012 to Sep.2013.There was no obvious difference in sex,age,body mass index (BMI),stone location and size.According to the surgery approaches,this group of patients was divided into ballon group (dilated by balloon dilatation) and Amplatz group (dilated by Amplatz fascial dilation) and in each group there were 30 cases.All these patients received the surgery by the same group of surgeons.We collected the data of one-time success puncture rate,success puncture time,puncture complications (kidney calices fracture,perinephric fluid collection and postoperative delayed hemorrhages etc.),removing stones time and stone free rate.Results Compared with Balloon group,Amplatz group had a significant difference (P＜0.05) in one-time success puncture rate [100％ (30/30) vs 90％ (27/30)],success puncture time [(6.1±2.3)min vs (13.3±3.6)min],puncture complications [3％(1/30) vs 13％(4/30)] and removing stones time [(11.7±2.0)min vs (21.5±3.1)min]; but no significant difference (P＞0.05) in stone free rate [87％ (26/30) vs 83％ (25/30)].Conclusions Balloon dilatation combined with flank supine position in percutaneous nephrolithotomy is easy for surgery.It can establish the surgery access more accurately and faster,decreases removing stones time and reduces operative complications.