To report the clinical, imaging, and pathological feature of a rare case of central precocious puberty with primary pigmented nodular adrenocortical disease(PPNAD), and to conduct a retrospective analysis of PPNAD with relevant literatures. The pubic hair was found in the child for more than one year. Physical examination showed Cushing′s syndrome. ACTH in blood decreased, cortisol rhythm was disordered, 24-hour urine free cortisol increased and the paradoxical increase of urine free cortisol after high dose dexamethasone suppression test. Adrenal enhancement computed tomography(CT)showed multiple small nodular shadows in bilateral adrenal glands. Gonadotropin releasing hormone(GnRH)stimulation test supported central precocious puberty and GnRH analogue was used to control the sexual development. PPNAD was supported by pathology result. The symptoms of Cushing′s syndrome were relieved partially after left adrenalectomy.

Objective To explore the correlation between family environment and self-concept of children with attention deficit hyperactivitydisorder (ADHD). Methods Family Environment Scales Chinese Version (FES-CV) and Piers-Harris Children's Self-concept Scale(PHCSS) were used to evaluate 79 children with ADHD and 71 normal children. Results The scores of behavior, intelligence and school,physical appearance, sociability, happiness and satisfaction, and total scores of PHCSS were lower in ADHD group than in normal group (P<0.05). Compared with the normal group, the ADHD group presented lower scores in cohesion, independence, intellectual-cultural orientation,moral religious emphasis, organization (P<0.05) and obviously higher score in conflicts (P<0.01) in FES-CV. The stepwise regressionanalysis showed that moral religion emphasis of FES-CV was a major risk factor to total scores of PHCSS in ADHD children (P<0.05). ConclusionChildren with ADHD show more family dysfunction, which may correlated with their poor self-concept.

Objective: To explore the effects of different concentrations of glucose solution on the survival of Aedes albopictus and Culex pipiens pallens larvae, the attraction to mosquitoes and egg-laying behaviors, so as to provide the reference for developing mosquito control technology based on sugar bait. Methods: White porcelain bowls were filled with 100 mL of 3%, 5%, 8%, 10% and 15% glucose solutions. Ten of fourth instar larvae of Aedes albopictus or Culex pipiens pallens were added to each bowl, and the survival of larvae was recorded after 2, 4, 6, 24, 48 and 72 hours. Egg-laying cups containing 5%, 8% and 15% glucose solution were put in mosquito cages containing fully blooded female mosquitoes of Aedes albopictus and Culex pipiens pallens (50 mosquitoes each), and the total number of eggs laid in 72 hours was observed. The analogous site room was filled with fully blooded and starved female mosquitoes of Aedes albopictus and Culex pipiens pallens (100 mosquitoes each), and simple mosquito control buckets containing 5% and 8% glucose solution and black sticky insect plates. The number of mosquitoes and eggs was observed after 6 days. All the above experiments were repeated 3 times using dechlorinated water as the control. Results: The 72 hour corrected mortality rates of Aedes albopictus and Culex pipiens pallens larvae gradually increased with the increase of glucose concentration. The glucose solution with 5% and higher concentrations was not suitable for mosquito larvae to survive. The attraction of egg-laying behaviors to Aedes albopictus and Culex pipiens pallens gradually decreased with the increase of glucose concentration. The effects were similar between 5% and 8% glucose solution, with the averages of 686.67 and 682.33 eggs for Aedes albopictus, and 3.00 and 2.33 egg rafts for Culex pipiens pallens. In analogous site room, there were 93.33, 105.00 and 130.33 adult mosquitoes captured on average in the control group, 5% and 8% glucose solution groups, respectively, with 8% glucose solution group more attractive to adult mosquitoes than the control group (F=3.283, P=0.030); there were 70.33, 55.33 and 63.00 Aedes albopictus eggs (eggs counts+larvae counts) on average, respectively, with statistically significant differences among the three groups (H=6.761, P=0.034). Conclusion Glucose solution with concentration of 5% or higher can effectively inhibit the survival of Aedes albopictus and Culex pipiens pallens larvae, and attractive to adult mosquitoes and egg-laying behavoirs.

Objective To evaluate the efficacy of computed tomography ( CT ) image?guided 125 I radioactive seed implantation for locally recurrent rectal cancer ( LRRC ) , and to analyze the relationship between the dosimetry and prognosis. Methods A retrospective analysis was performed on the clinical data of 36 patients with LRRC who received CT image?guided 125 I seed implantation in our hospital from 2003 to 2011. Dosimetric verification was performed using CT scan immediately after 125 I seed implantation. The D90 , D100 , V100 , and V150 values were evaluated. In all the patients, the median activity of seeds was 0?7 mCi (0?4?0?8 mCi) and the median number of implanted seeds was 74(33?137). The local control (LC) and overall survival ( OS ) rates were calculated using the Kaplan?Meier method. The log?rank test and Cox regression model were used for the univariate and multivariate analyses, respectively. Results The median OS time was 16?2 months ( 95% CI= 13?5?18?9 months ) . The median LC time was 10?0 months (95% CI=6?2?13?8 months). The D90 and V100 values were (118.6±25?1) Gy and (90.0±0?3)%, respectively. The univariate analysis suggested that D90 was correlated with the LC time ( P=0?048) and V100 was correlated with the OS time ( P=0?035) . The multivariate analysis showed that a V100 value higher than 90% was a prognostic factor of OS (P=0?044). Conclusions In the treatment of LRRC using CT image?guided 125 I radioactive seed implantation, a D90 value larger than 140 Gy and a V100 value higher than 90% in the postoperative verification plan help improve the LC and OS rates. The D90 and V100 values in the postoperative verification plan may predict treatment outcomes in patients.

ObjectiveTo investigate the therapeutic value of noninvasive mechanical ventilation in patients with conscious disturbance due to severe chronic obstructive pulmonary disease (COPD) with respiratory failure. MethodsForty-two patients with conscious disturbance due to COPD complicated with respiratory failure were selected in the study. GALILEO or PAPHAEL large EMT ventilator produced by Switzerland Hamilton Company was used for noninvasive mechanical ventilation with P-SIMV+PSV+PEEP mode. Meanwhile, the change of vital signs, consciousness, the degree of inspiratory muscle fatigue and blood gas indexes were observed before and after treatment. Glasgow coma scale (GCS) was applied to evaluate the consciousness, and scale for accessory muscle use was adopted to measure the degree of inspiratory muscle fatigue. ResultsAll the patients were treated successfully. Compared with admission, the pH value, the pressure of arterial carbon dioxide (PaCO2) and the arterial oxygen pressure/inhaled oxygen concentration (PaO2/FiO2)were significantly improved 2 hours, 4 hours and 24 hours after treatment. The respiration rate and heart rate were markedly decreased 24 hours after treatment, which indicated that the condition of the patients tended to be stable and the patients could endure the therapy. The average GCS was increased from 5.69-1-0.93 to 10.45±1.23 (t= 31.68, P<0.001), and the state of consciousness was improved significantly. The scale for accessory muscle use was decreased from 3.70±0. 45 to 2. 06±0. 52 (t = 31.21, P < 0. 001), and the respiratory muscle fatigue was relieved. ConclusionsNoninvasive mechanical ventilation has obvious clinical curative effect on severe infection and conscious disturbance due to severe COPD complicated with respiratory failure.

Congenital lipoid adrenal hyperplasia (CLAH) is a rare autosomal recessive disorder, which is characterized by adrenal insufficiency and 46, XY sex reversal. Two cases of CLAH with 46, XY karyotype exhibited male external genitalia were reported to explore the clinical and genetic features. A retrospective analysis of CLAH with relevant literatures was performed.

Objective:To analyze the patients′ clinical and genetic characteristics with pseudohypoparathyroidism (PHP) and investigate the correlation between clinical phenotypes and genotypes.Methods:Twenty PHP patients were ascertained at Children′s Hospital Zhejiang University School of Medicine from January 2011 to July 2020. Clinical manifestation, laboratory examination and gene test results were retrospectively analyzed.Results:In these twenty patients, eighteen cases showed resistance to parathyroid hormone (PTH) and thirteen cases had Albright′s hereditary osteodystrophy (AHO) phenotype. Gene abnormalities were found in all the twenty PHP patients, which included seven patients with GNAS gene variations (six frameshifts and one missense) and thirteen patients with GNAS gene methylation defects. Moreover, twelve children with both PTH resistance and AHO phenotype were clinically diagnosed as PHP-Ⅰa, meanwhile, seven carried GNAS variations and five had methylation abnormalities with a correct diagnosis of PHP-Ⅰb.Conclusions:Patients with AHO phenotype and PTH resistance may have a high genetic diagnosis rate. Because PHP-Ⅰb clinical phenotype may be similar to PHP-Ⅰa, early genetic detection is required for the differential diagnosis. In addition, children without PTH resistance should also be followed up regularly, which may help the early diagnosis.

Objective:To analyze the trends of overweight and obesity prevalence in Chinese children, aged from 6 to 15 years old among 4 provinces and cities from 2009 to 2019.Methods:Reviewed the national multi-center epidemiological survey data of children from the National Key Technology R&D Program of China during the Eleventh Five-Year Plan (2009 to 2010) and the National Key Research and Development Program of China during the Thirteenth Five-Year Plan (2017 to 2019). The participants′ data were selected from four provinces,municipalities and autonomous region,including Beijing, Tianjin (Northern region), Zhejiang (Eastern region), and Guangxi (Southern region). Totally 14 597 pairs of 6-15 year-old children were surveyed. According to the body mass index (BMI) and standard deviation score (SDS) of children among different genders, ages, and regions, t test or chi-square test was used to evaluate the changes in overweight and obesity over a 10-year span. Results:Totally 7 721 pairs of boys and 6 876 pairs of girls were collectted in this study, whose mean age was (10.7±2.5) years. In the past 10 years, the overall BMISDS were 0.39±1.24 and 0.36±1.31 and the overall obesity rate were 11.8% ( n=1 773) anel 12.5% ( n=1 813) of children in the 4 administrative regions did not have statistically significant differences (all P>0.05). However, the overall overweight rate rose from 17.1% ( n=2 496) to 19.1% ( n=2 781) (χ2=18.657, P<0.01), and the average annual growth rate was 0.20%. The BMISDS in the Eastern region increased from 0.10±1.07 to 0.19±1.22 ( t=-4.095, P<0.01), and the overweight rate and obesity rate increased by 3.8% ( n=202) and 3.1% ( n=169) respectively (both P<0.01); the BMISDS in the Northern region and the obesity rate did not have statistically significant differences(all P>0.05), but the overweight rate rose from 20.5% ( n=1 233) to 22.8% ( n=1 365) significantly (χ2=7.431, P<0.01); BMISDS in the Southern region was significantly decreased from 0.30±1.19 to 0.09±1.25 ( t=1.426, P<0.01), and the rate of obesity decreased from 9.8% ( n=315) to7.9% ( n=256) (χ2=6.46, P<0.05), the overweight rate was not stafistically significant ( P=0.10), respectively. The obesity rate of boys had risen from 16.4% ( n=1 265) to 18.2% (1 407) (χ2=8.997, P<0.01) in the past 10 years, and the overweight rate had risen from 18.0% ( n=1 393) to 20.5% ( n=1 579) (χ2=14.26, P<0.01). The overweight+obesity rate rose from 34.4% ( n=2 658) to 38.7% ( n=2 986) (χ2=29.859, P<0.01), and the weight problem in the age group of 8 to 11 years was particularly severe (all P<0.01). The obesity rate of girls dropped from 6.8% ( n=468) to 5.9% ( n=406) (χ2=4.546, P<0.05), the overweight rate rose from 16.0% ( n=1 103) to 17.5% ( n=1 202) (χ2=5.006, P<0.05), and the overall overweight+obesity rate rose from 22.8% ( n=1 571) to 23.4% ( n=1 608) (χ2=0.53, P>0.05). Conclusions:The growth rate of obesity among children in China had slowed down from 2009 to 2019, but the overweight rate was still on the rise. The overall base of overweight and obesity population continued to expand. The weight problem of peri-adolescent boys was particularly prominent. The current status of obesity epidemics in different regions, ages, and genders are significantly different and had their own characteristics. It is necessary to establish a personalized prevention and control strategy.

PURPOSE: Mismatch repair (MMR) deficiency plays a critical role in rectal cancer. This study aimed to explore the associations between genetic variations in seven MMR genes and adverse events (AEs) and survival of patients with rectal cancer treated with postoperative chemoradiotherapy (CRT). MATERIALS AND METHODS: Fifty single nucleotide polymorphisms in seven MMR (MLH1, MLH3, MSH2, MSH3, MSH6, PMS1 and PMS2) genes were genotyped by Sequenom MassARRAY method in 365 patients with locally advanced rectal cancer receiving postoperative CRT. The associations between genotypes and AEs were measured by odds ratios and 95% confidence intervals (CIs) by unconditional logistic regression model. The associations between genetic variations and survival were computed by the hazard ratios and 95% CIs by Cox proportional regression model. RESULTS: The most common grade ≥ 2 AEs in those 365 patients, in decreasing order, were diarrhea (44.1%), leukopenia (29.6%), and dermatitis (18.9%). Except 38 cases missing, 61 patients (18.7%) died during the follow-up period. We found MSH3 rs12513549, rs33013 and rs6151627 significantly associated with the risk of grade ≥ 2 diarrhea. PMS1 rs1233255 had an impact on the occurrence of grade ≥2 dermatitis. Meanwhile, PMS1 rs4920657, rs5743030, and rs5743100 were associated with overall survival (OS) time of rectal cancer. CONCLUSION: These results suggest that MSH3 and PMS1 polymorphisms may play important roles in AEs prediction and prognosis of rectal cancer patients receiving postoperative CRT, which can be potential genetic biomarkers for rectal cancer personalized treatment.
Biomarkers ; Chemoradiotherapy ; Dermatitis ; Diarrhea ; DNA Mismatch Repair ; Follow-Up Studies ; Genetic Variation ; Genotype ; Humans ; Leukopenia ; Logistic Models ; Methods ; Odds Ratio ; Polymorphism, Single Nucleotide ; Prognosis ; Rectal Neoplasms

Objective:To investigate the associations between the genetic variations of apoptosis genes and the adverse events of postoperative concurrent chemoradiotherapy in patients with rectal cancer.Methods:We enrolled 362 patients with stage Ⅱ to Ⅲ rectal cancer who received concurrent chemoradiotherapy. Whole blood sample (2 ml) was collected from patient at the time of enrollment before therapy. Sequenom MassARRAY was used to detect the genotypes of 29 haplotype-tagging single nucleotide polymorphisms (htSNPs) in eight apoptosis genes, including Fas cell surface death receptor(FAS), Fas ligand(FASL), apoptotic peptidase activating factor 1(APAF1), BCL2 associated X(BAX), TNF-related apoptosis-inducing ligand(TRAIL), TNF-related apoptosis-inducing ligand receptor 1(TRAILR1), TNF-related apoptosis-inducing ligand receptor 2(TRAILR2) and caspase-7(CASP7). The associations between genotypes and adverse events of chemoradiotherapy were measured by unconditional logistic regression model.Results:Three hundred and sixty two patients were treated with total mesorectal excision surgery followed by a total radiation dose of 50 Gy applied in 25 fractions over a period of 5 weeks concurrently with daily administration of capecitabine (1 600 mg/m 2 per day, continuously for 2 weeks and taking a week off every 21-day cycle). One hundred and six patients (29.3%) had grade≥2 myelosuppression. Three SNPs associated with the risk of grade ≥2 myelosuppression included FAS rs1468063 ( OR=1.51, 95% CI: 1.07-2.15, P=0.020), APAF1 rs11296996 ( OR=0.69, 95% CI: 0.49-0.98, P=0.039) and BAX rs4645904 ( OR=0.69, 95% CI: 0.50-0.97, P=0.030). One hundred and sixty one patients (44.5%) developed grade≥2 diarrhea. Five SNPs that significantly associated with risk of grade≥2 diarrhea included APAF1 rs11296996 ( OR=1.42, 95% CI: 1.02-2.00, P=0.040), rs74619561 ( OR=2.16, 95% CI: 1.27-3.68, P=0.005), CASP7 rs12263370 ( OR=1.67, 95% CI: 1.05-2.66, P=0.029), rs12247479 ( OR=1.85, 95% CI: 1.12-3.08, P=0.017) and TRAIL rs112822654 ( OR=0.68, 95% CI: 0.48-0.96, P=0.027). The remaining SNPs were not related to the adverse events of chemoradiotherapy (all P>0.05). Grade≥2 myelosuppression occurred less frequently in male than in female ( P=0.046); Surgical treatment and tumor location had great impact on the occurrence of grade≥2 diarrhea (all P<0.001) and dermatitis (all P<0.05). Conclusions:The genetic variations of FAS, APAF1, BAX, TRAIL and CASP7 are related to the adverse events of concurrent chemoradiotherapy in patients with rectal cancer, which may be potential genetic biomarkers for individualized treatment of rectal cancer.