ObjectiveTo explore the effect of precocious puberty on glucose metabolism and lipid metabolism in female rats. MethodsSixty two-day-old female rats were randomly divided into 2 groups. When aged 5 days， the precocious puberty group and normal group were given a single subcutaneous injection of danazol and solvent soybean oil respectively. The vaginal opening of rats was monitored from their 21 days of age. After 12 hours of fasting， all successful modeling rats were randomly executed within 3 days after vaginal opening， when aged 7 and 12 weeks. Then we measured the rats’ body weight and length， determined the concentrations of glucose， insulin， blood lipids， estradiol， leptin and adiponectin with enzyme-linked immunosorbent assay and observed the pathological changes of perirenal fat， uterus and ovary. ResultsFor body weight and length， rats in the precocious puberty group were smaller than those in the normal group within 3 days after vaginal opening， but which did not affect their subsequent growth and development， and there was no significant difference between the two groups at 7 and 12 weeks of age. Within 3 days after vaginal opening， insulin levels had significant difference between the two groups （P = 0.001）， the precocious group showed hyperinsulinemia and increased number of perirenal adipocytes. At three execution times， no significant difference was noted in estradiol， leptin and adiponectin levels between the two groups. The same was true in the ratios of ovary or uterus to body weight between the two groups. ConclusionsPrecocious puberty makes earlier onset of pubertal development and allows body maladaptation to the sudden changes of the internal environment. However， the changes due to precocious puberty are temporary and reversible， and they may become normal in adulthood.

Objective:To summarize the clinical and genetic features of 7 patients with a mild form of Geleophysic dysplasia type 2(GD2)/Acromicric dysplasia(AD) induced by fibrillin 1(FBN1) gene mutation from one Chinese family.Methods:A Chinese pedigree of mild GD2/AD treated at the Pediatric Endocrinology Department at the First Affiliated Hospital of Sun Yat-sen University between August 2017 and May 2022 was collected. Whole-exome genetic sequencing of the FBN1 gene were performed to establish the diagnosis. Additionally, a literature review was further conducted.Results:In this family, among 13 individuals spanning three generations, there were 7 affected cases, including 1 adult female, 1 adult male, and 5 children. All individuals exhibited postnatal growth failure, severe disproportionate short stature, and lacked typical facial features. Exome sequencing and Sanger sequencing confirmed the presence of a heterozygous missense mutation c. 5099A>G(p.Tyr1700Cys) in exon 42 of the FBNI gene in 6 affected individuals(Ⅱ-1, Ⅲ-1 to Ⅲ-5), which was identified as a pathogenic mutation. This mutation was previously reported in a Chinese classical achondroplasia(AD) family. Based on comprehensive genetic analysis, clinical features, and multisystem evaluation, 3 cases were diagnosed with mild type 2 growth hormone deficiency(GD2), and 4 cases were diagnosed with mild AD. Recombinant human growth hormone(rhGH; 1.1-1.4 IU·kg -1·week -1) was applied to all the 5 children, and additional gonadotropin releasing hormone analogue(GnRHa) was administered to the 2 girls in late puberty, resulting in certain growth-promoting effect. Conclusions:The c. 5099A>G(p.Tyr1700Cys) mutation not only leads to the classical type of achondroplasia(AD) as reported in the literature but also causes the non-classical GD2 or AD(mild GD2/AD). Further research is warranted to investigate the long-term therapeutic effects of rhGH treatment.

Objective:To explore the effects of different approaches for second-trimester multifetal pregnancy reduction on pregnancy outcome in women with dichorionic triamniotic (DCTA) triplet.Methods:A retrospective study was performed on 51 women with DCTA triplet pregnancies who were referred to Guangdong Women and Children Hospital for second-trimester multifetal pregnancy reduction from January 2014 to January 2020. All participants were divided into either preventive group ( n=39) or treatment group ( n=12) according to the indication for multifetal pregnancy reduction, and they were further allocated to three subgroups based on different reduction methods, which were reduction to dichorionic twin by radiofrequency ablation (RFA) (RFA subgroup), reduction to monochorionic singleton (KCl-singleton subgroup) or monochorionic twin (KCl-twin subgroup) by cardiac injection of potassium chloride. Pregnancy loss rate, neonatal birth weight, gestational age at delivery, incidence of intrauterine death, and neonatal death were compared and analyzed between different groups using t-test, analysis of variance, Chi-square test, Fisher's exact test and Bonferroni correction. Results:(1) The mean gestational week at operation in the treatment group was significantly later than that in the preventive group [(18.5±3.1) vs (15.0±2.3) weeks, t=-4.209, P<0.001]. In the preventive group, the mean gestational week at operation in the RFA subgroup was later than the KCl-singleton and KCl-twin subgroup[(17.2±1.6) vs (13.8±1.5) and (12.7±1.0) weeks, t=6.630 and 3.875, respectively, both P<0.05]. (2) The postoperative pregnancy loss rate in the preventive group was decreased compared with the treatment group [10.3%(4/39) vs 5/12, Fisher's exact test, P<0.05], and the live birth ratio was increased [ 85.7%(48/56) vs 10/18, χ2=5.640, P=0.018]. No live birth infants with birth weight <1 500 g was reported in the KCl-singleton subgroup in preventive group, and the statistical significance was observed in the intra-group differences ( P<0.05) rather than the pairwise comparison differences in the preventive group. For the proportion of live births, there was a statistically significant difference in the intra-group comparison in the treatment group, which was higher in the RFA subgroup than that in the KCl-twin subgroup (6/6 vs 1/6, P=0.045). No significant difference was revealed among pregnancy loss rate, gestational weeks at delivery, the mean birth weight, premature delivery <32 gestational weeks, and full-term birth rate among three different approaches within the two groups. (3) No monochorionic twin complications or perinatal death occurred in any RFA or KCl-singleton subgroups in the two groups. In the KCl-twin subgroups including five cases with ten fetuses, including three live birth, four miscarriage, three intrauterine death occured, while no neonatal death was reported. One case with selective fetal uterine growth restriction in the preventive group delivered two live births, and one case with twin-to-twin transfusion syndrome in the treatment group had intrauterine death in one fetus and one survival neonate. Conclusions:The pregnancy outcome of multifetal pregnancy reduction to dichorionic diamniotic twins by RFA or reduction to singleton by cardiac injection of potassium chloride are comparative in women with DCTA triplet, regardless of whether it is a preventive or therapeutic reduction.

Objective: To assess the effectiveness of radiofrequency ablation (RFA) in the treatment of multiple pregnancies. Methods: In this retrospective study, 84 cases (total 174 fetuses) of complex monochorionic pregnancies treated with RFA for selective fetal reduction were analyzed. All cases were managed in the Guangdong Women and Children Hospital from January 2015 to January 2018. Indications for offering RFA, details of the procedure and pregnancy outcomes were collected and analyzed. Results: (1)The rate of miscarriage and fetal intrauterine death was 21% (18/84), termination of pregnancy because of fetal malformation or oligohydramnion occurred in 10% (8/84) of cases. Total live birth rate was 69% (58/84) and the gestation age at delivery was (35.0±3.0) weeks. (2) The live birth rate of twin reversed arterial perfusion sequence (TRAPS) was the lowest (6/11), followed by twin to twin transfusion syndrome (TTTS; 66%, 27/41), structural or genetic abnormalities of one fetus in monochorionic twin pregnancy (10/14), triplet pregnancy reduction (4/6) and selective intrauterine growth restriction (sIUGR) (11/12). (3) The live birth rate was 67% (20/30) in stage Ⅲ of TTTS and 7/11 in the stage Ⅳ of TTTS (P>0.05). The average gestational age was (33.6±3.0) weeks in stage Ⅲ of TTTS compared with (36.5±2.4) weeks in the stage Ⅳof TTTS (P<0.05). Conclusions RFA appears to be a reliable option for selective fetal reduction in monochorionic multiple pregnancies. The indication of RFA is an influencing factor on its pregnancy outcomes. Type Ⅱand type Ⅲ sIUGR may choose this technique as a priority. Compared with stage Ⅲ of TTTS, the live birth rate and the gestation age at delivery in stage Ⅳ of TTTS, there are no significant differences.

OBJECTIVE: To carry out prenatal diagnosis for two cases of Pallister-Killian syndrome (PKS) using combined chromosomal microarray analysis (CMA) and fluorescence in situ hybridization (FISH). METHODS: Umbilical cord blood was sampled from the two fetuses and subjected to G-banding chromosomal karyotyping, CMA and FISH assay. RESULTS: Chromosomal karyotyping showed that the two fetuses were mos 47,XX,+i(12)(p10)[3]/46,XX[197] and mos 47,XY,+i(12)(p10)[5]/46,XY[95], respectively. CMA showed that both had carried duplication of 12p. The results of interphase FISH confirmed mosaicism of 12p tetrasomy. Combined with ultrasonographic findings, both fetuses were diagnosed as PKS. CONCLUSION Prenatal ultrasound examination, karyotype analysis of umbilical cord blood, G-banded chromosomal analysis, CMA and FISH may be used in conjunct for the prenatal diagnosis of PKS.
Chromosome Disorders ; diagnosis ; Chromosomes, Human, Pair 12 ; Female ; Humans ; In Situ Hybridization, Fluorescence ; Microarray Analysis ; Mosaicism ; Pregnancy ; Prenatal Diagnosis

OBJECTIVE: To investigate the influence of occupational and environmental factors on the pregnancy for Down's syndrome. METHODS: By systematic sampling method,97 pregnant women who had been diagnosed as Down's syndrome by Giemsa staining on fetal chromosomes in chorionic villus sampling,amniocentesis,or umbilical cord blood sampling were selected as the case group,while 373 non-Down's syndrome pregnant women after same examinations during the same period in the same hospital were selected as the control group. The history of exposure before pregnancy to occupational and environmental factors was analyzed. RESULTS: The pregnant women aged over 35 years had higher risk of Down's syndrome than those aged under 35 years( P < 0. 01). The pregnant women with occupational exposure to organic solvents containing benzene had higher risk of Down's syndrome than those without occupational exposure history to hazardous substances( P < 0. 01). The pregnant women using estrogenic drugs before pregnancy or during early pregnancy had higher risk of Down's syndrome than those without drug use( P < 0. 05). The pregnant women living in newly-decorated houses or using the new furniture had higher risk of Down's syndrome than those without new decoration( P < 0. 01). The pregnant women with pre-pregnancy intake of folic acid had lower risk of Down's syndrome than those without any intake of folic acid supplement( P < 0. 05). CONCLUSION: The age,occupational exposure to benzene solvents and taking estrogenic drugs were the major leading factors of development of Down's syndrome.

Objective:To study the expression of MMP-9 in nasal NK/T cell lymphoma, HIF-1a and its relationship with the clinical and pathologic characteristics. Methods:46 cases ( case group) of paraffin block specimens from patients with pathologically confirmed nasal NK/T cell lymphoma were collected from the Affiliated Hospital of Youjiang Medical College For Nationalities,the same period endoscopy turbinate mucosa were confirmed by pathology in 20 cases of chronic inflammation of mucosa specimens ( control group) , respectively HE staining and immunohistochemistry handle two specimens, observation of the expression differences of two groups of specimens of pathological morphology, MMP-9 and HIF-1a, and to analyze its relationship with the clinical and pathological features of the patients. Results: Case group HIF-1a expression rate 67. 39% (31/46), expression was 6. 52% (3/20) in control group. , the HIF-1a case group were significantly higher than control group (P<0. 05). Case group MMP-9 expression rate 71. 74%(33/46), in the control group expression was 6. 52% (3/20), MMP-9 expression in the case group was significantly higher than control group (P<0. 05). HIF-1a and MMP-9 in positive expression in Ann Arbor staging (Ⅲ-Ⅳ), lymph node metastasis, vascular invasion in patients with nasal NK/T cell lymphoma tissue appeared a high expression ( P< 0. 05 ) . Conclusion: Nasal NK/T cell lymphoma tissue of patients with HIF-1a, MMP-9 presented high expression, and there was a certain relationship between Arbor Ann stage (Ⅲ-Ⅳ) , lymph node metastasis and vascular invasion.

Purpose To investigate the relation of Epstein-Barr virus ( EBV) infections and malignant lymphoma. Methods EBV-co-ded RNA ( EBER) was detected by in situ hybridization in tumor tissue of 81 cases of malignant lymphoma in oral, maxillofacial and neck regions, with analysis of the clinical pathological features. Results The detection frequencies of EBER was 44. 44%. The posi-tive detection of EBER in Hodgkin′s lymphomas was 40% and that in non-Hodgkin lymphomas was 45. 1%, including 75% in T cell lymphomas, 87. 5% in NK/T cell lymphomas and 2. 9% in B-cell lymphoma. The positive rates of EBER in T cell lymphomas and NK/T cell lymphomas were significantly higher than that in B-cell lymphoma (P<0. 05). There was a significant difference in the pos-itive rates of EBER between intra-nodal ( 17. 9%) and extra-nodal ( 58. 5%) lymphomas ( P<0. 05 ) . But there was no significant difference the positive rates of EBER between in lymphoma patients over 50 years of age and under the age of 50 patients (55. 9%) (P>0. 05). Conclusion Oral and maxillofacial and neck lymphoma is closely associated with EBV infection in Guangxi region, espe-cially, in which NK/T cell lymphoma most typically occurs in extra-nodal diffuse lymphoid tissues.

Objective To investigate the manifestations of CT and MRI images of paranasal sinuses sarcoma, improve the accuracy of diagnosis. Methods Make retrospective analysis of our hospital from January 2008 to January 2014,36 patients with pathologically confirmed nasal sinuses sarcoma in patients with CT and MRI imaging data, to explore the value of imaging diagnosis. Results The MRI sarcoma typically presents with slight long T1 and slight long T2 signal,enhanced moderately enhanced. 36 cases of lesions center located in the sphenoid region, in maxillary sinus in 6 cas-es. The CT diagnosis of paranasal sinuses sarcoma of the lesion was a total of 27 cases(75.00%),the MRI can provide the diagnosis of paranasal sinuses sarcoma in 35 cases(97.22%),two methods had significant difference (χ2=7.43,P<0.05). Conclusion CT can effectively show the sinus bone destruction, MRI could clearly display the lesion's extent,the combination of image can provide more comprehensive information for the diagnosis and treatment of the Sinus.

Objective To study the effect of epinephrine on biofilm formation of the qseC-deleted mutant of Escherichia coli on biomaterial.Methods The strains used in this study are Escherichia coli MC1000 and MC1000AqseC.LB was used for all the experiments.To determine the effect of epinephrine on motility,halos were measured in LB medium at 37℃ in the presence of epinephrine(50 μmol/L).LB with epinephrine and without epinephrine were used,and then the experiment of bacterial biofilm formation on PVC material was taken.The relative amount of biofilm was estimated.The thickness of bacterial community and bacterial community quantity in the unit area on PVC materials were measured by confocal laser scanning microscope( CLSM),and the surface structure of biofilm formation was observed by scanning electron microscope(SEM).Results The mutant strain formed less biofilm than the wild-type strain in LB.The increment in motility of wild-type strain due to epinephrine addition was shown,but mutant strain is unaffected.Similarly,biofilm formation of the wild-type strain was increased by epinephrine,but epinephrine did not affect the biofilm formation of the qseC mutant.The CLSM and SEM showed that epinephrine stimulated biofilm formation of wild-type strain on PVC materials,but had no effect on qseC-deleted mutant strain.Conclusion Epinephrine increases Escherichia coli biofilms on biomaterials through qseC.