Objective To explore the clinical features of methylmalonic acidemia (MMA) in children admitted to the pediatric intensive care unit, to help improve our understanding of MMA. Methods The clinical data of 21 patients with MMA admitted to our PICU from December 2012 to August 2016 were analyzed. Diagnosis were confirmed by gas chromatography-mass spectrometry, GC/MS. Results twenty-four of 158 suspected cases were confirmed as having organic acidemia diseases including 21 cases of MMA, one case of propionic acidemia, one case of urea cycle disorders, and one case of glutaric acidemia. The main clinical manifestations were feeding difficulty, malnutrition (13 cases), developmental retardation (12 cases), lethargy (10 cases), tricuspid severe reflux and pulmonary hypertension (1 case), hydrocephaly (5 cases), muscular dystonia (three cases with hypertonia, and four with hypotonia), convulsion (7 cases), apnea, sobbing respiration (10 cases), chromatosis (6 cases), anemia (13 cases), edema (6 cases), thrombocytopenia (6 cases), hematuria and proteinuria (2 cases). Five cases gave up therapy before diagnosis was made. Sixteen cases received the treatment with Vitamin B12 and supplementation of L-carnitine. Seven cases gave up after treatment without effect or deterioration of condition. Eight cases were vitamin B12-responsive, and one case was vitamin B12-nonresponsive. The follow-up for a period ranging from three months to two years, among eight vitamin B12-responsive cases, 6 cases showed a favorable outcome with apparent improvement, one case had no symptom and one patient died from severe pneumonia. Vitamin B12-nonresponsive case was still alive. Conclusions The clinical manifestations of MMA are non-specific. Urine organic acid analysis is critical to early diagnosis of MMA in high-risk patients. Timely diagnosis and appropriate long-term treatment are essential to improve the prognosis of the disease.

Abnormalities, Multiple ; genetics ; Chromosome Deletion ; Chromosome Mapping ; Chromosomes, Human, Pair 9 ; genetics ; Growth Disorders ; genetics ; Humans ; Infant, Newborn ; Male

Objective To study the relationship of abnormal family history in the first degree relatives and the clinical phenotype of patients with polyeystic ovary syndrome(PCOS).Methods Clinical data of first degree relatives of 139 women with PCOS were collected by questionnaires,including body mass index(BMI),waist hip ratio(WHR),and hursutism score.Follicle stimulating hormone(FSH), luteinizing hormone(LH),prolactin(PRL),testosterone(T),androstenedione(A),oral glucose tolerance test(OGTT)and insulin releasing test were measured.Results(1)Compared with patients with a negative family history of diabetes mellitus,for women with a positive family history,WHR(0.99?0.10 vs 0.79?0.08)and score of hirsutism(1.9?1.2 vs 1.8?1.2)were increased,the duration of menstruation was longer[(108?10)vs(92?19)days];A[(11?6)vs(8?5)nmol/L],homeostasis model assessment of insulin resistance(HOMA-IR,3.5?2.0 vs 2.7?1.6),area under curve(AUC) glucose[(836?245)vs(748?139)nmol?L~(-1)?min~(-1)],AUC insulin[(9670?4582)vs(7330?4311) mIU?L~(-1)?min~(-1)],fasting glucose[(5.0?1.1)vs(4.8?0.5)mmol/L]and fasting insulin[(15?8)vs (11?8)mIU/L]were increased,while early insulin secretion function index(?I60/?G60,32?22 vs 52?30),insulin sensitive index(ISI,0.019?0.011 vs 0.033?0.014)and disposition index(DI,18? 10 vs 30?22;P

Objective To explore the clinical application of the Conners Parent Symptom Questionnaire (PSQ) and the Teacher Rating Scale (TRS) in 3~7 years old hearing-impaired children. Methods 30 hearing-impaired children were tested by PSQ and TRS. Results The detection rate of problem behavior is 53.33% in PSQ and 26.67% in TRS. There was no significant difference in the PSQ and TRS scores between different sex and age (P>0.05). There was no significant correlation between PSQ and TRS (P>0.05). Conclusion The Conners Rating scale is suitable to evaluate the behavior problem in 3~7 years old hearing-impaired children.

Objective To assess the clinical characteristics of benign prostatic hyperplasia (BPH) patients and patients's attitude towards BPH and BPH therapy. Methods The question-naires were distributed to 3560 BPH patients throughout the country during the period of Prostate Health Educational Programmer (PHELP). The survey was mainly focused on the questions of patient understanding toward BPH, the preference of treatment and international prostate score scale.Results The evaluations based on 2878 completed patient's questionnaires showed that 86. 0% of patients were diagnosed with moderate or severe low urinary tract syndrome. The main reasons for seek treatment was irritative symptoms (64. 1%), obstructive symptoms ( 41. 7%), physical checkup (41.0%), worry about prostate cancer(14. 5%). Most of patients sought treatment from big hospitals. Most of patients (69.1%) had right understanding towards BPH. Nocturia was the most bothersome of lower urinary tract symptoms(LUTS) suggestive of BPH. Rapid LUTS improvement was the patient's main objective (87.4%). Conclusions Chinese patients did not recognize the complications of BPH progression. Irritative symptoms are the main reasons for seek treatment. Nocturia is most bothersome syndrome, which deteriorates quality of life mostly.

Objective To retrospectively analyze 45 cases of oral and maxillofacial malignant tumors and to assess the efficacy and feasibility of oral and maxillofacial malignant tumors implanted with 125I radioactive seeds under guidance of ultrasound.Methods A total of 47 focuses in these 45 patients were determined with the size of these tumors by imaging study,the section was planed by ultrasound,the number and distribution of radioactive seeds were determined with the help of the particle treatment planning system,and were percutaneously implanted particles under guidance of ultrasound.The number and the distribution of particles were assessed by CT.Efficacy endpoints were reexamined and evaluated regularly by ultrasonic and CT according to the standards of WHO.Results The total percentage of efficacy was 70.2% (including complete remission,partial remission).The treatment effect of metastatic carcinoma of lymph node is superior to the parotid tumor.There was no serious complication during the period of implanting and 2 patients with oral ulcers were found after operation.Conclusion The oral and maxillofacial malignant tumor treated implanted with 125I radioactive seeds under guidance of ultrasound is very effective and safe,which is deserved to popularize.The ultrasound is the first choice as a guided method for oral and maxillofacial malignant tumors.

Objective To investigate the mechanism of recurrent laryngeal nerve injury during total thyroidectomy.Methods The clinical data of 36 patients suffering from recurrent laryngeal nerve injury in total thyroidectomy from 2003 to 2014 was analyzed retrospectively.Results 21 cases had temporary recurrent laryngeal nerve injury while 16 cases had permanent injury.The cases of injury included giant thyroid goitre,with variation of recurrent laryngeal nerve,undergoing secondary surgery,with tumor invasion and complicating thyroiditis.During the first surgery,the incidence of temporary recurrent laryngeal nerve injury was 0.43％,and the incidence of permanent damage was 0.27％.The temporary and permanent injury incidence of secondary surgery after initial subtotal thyroidectomy was 4.59％ and 4.59％,respectively.For patients with grade 3 thyroid gland,that was 1.81％ and 0.30％,respectively and 0.51％,0.72％ respectively in malignant cases.In cases complicating thyroiditis temporary recurrent laryngeal nerve injury occurred in 1.01％.Conclusions There is increased risk of recurrent laryngeal nerve injury in giant goiter cases undergoing secondary operations.Hence it is suggested that initial surgical procedure be hemithyroidectomy or total thyroidectomy

Objective To explore the frequencies of MPL exon 10 mutations in JAK2 V617F-negative myeloproliferative neoplasms patients. Methods MPLW515K/L was processed through allele-specific PGR combined with direct sequence analysis. The mutations of others MPL exon 10 were detected by single strand conformation polymorphism PGR (PCR-SSCP) combined with direct sequencing. Results Of the 103 patients with JAK2 V617F-negtive myeloproliferative neoplasms patients, 1 carried MPLW515K mutation (TGG→AAG)in PMF; 1 was found to have new mutation (CTGGTGATCGCT insert) in ET and have homozygous mutation. Conclusion JAK2 V617F-negtive myeloproliferative neoplasms patients carried additional mutations in addition to W515K/L mutations in MPL exon 10, but its frequency of mutation is low.

Objective To explore the effects and the mechanisms of curcumin on in vitro viability,migration and invasion of human breast cancer cell line.Methods The test group (the concentrations of curcumin were 5,10,20 μg · mL-1,respectively)and control group were set in experiment.The inhibition effect of curcumin on the viability of MDA-MB-231 was determined with methyl thiazolyl tetrazolium (MTT).The apoptosis rate was determined with TUNEL assay.Themigration rate was determined with wounding assay.The invasion number of MDA-MB-231 was determined with tranwell assay.The expression of phosphorP38 was determined with Western blot.Results Curcumin suppressed MDA-MB-231 cell viability in a concentration-dependent manner when compared to the control.In high-dose group,cell viability after 48 h of curcumin treatment was decreased 49.17％ compared to control group;In medium-dose group,cell viability after 48 h of treatment was decreased 67.63％.In medium-dose group,the apoptosis rate after 48 h of curcumin treatment was increased 6.44％ compared to control group (0.38％);the apoptosis rate 48 h of curcumin treatment was increased 24.22％ in high-dose group.In medium-dose group,the migration rate after 48 h of curcumin treatment was decreased 55.33％ compared to control group;the migration rate 48 h of curcumin treatment was decreased 40.67％ in high-dose group.In medium-dose group,the invasion number after 48 h of curcumin treatment was decreased (37 ± 7) cell,compared to control group (104 ± 8) cell;the invasion number 48 h of curcumin treatment was decreased (25± 9) cell in high-dose group.In medium-dose group,the expression of phosphor-P38 after 48 h of curcumin treatment was decreased 57.63％ compared to control group;the expression of phosphor-P38 was decreased 42.51％ in high-dose group.Conclusion Curcumin suppresses human liver cancer cell MDA-MB-231 viability,migration and invasion by suppressing the expression of phosphorylation P38.

ObjectiveTo explore the relationship between single nucleotide polymorphism analysis of a novel tryptophanhydroxylase isoform(TPH2)gene rs11178997and depression,and suicidal behavior.MethodsThe specimens of peripheral blood were collected from Chinese Northern 300 depression and 300 controis.The amplification of TPH2 gene rs11178997 was executed by realtime-polymerase chain reaction (realtime-PCR),and analyzed by directed sequencing.And the association between the polymorphisms of TPH2 gene and depression and suicidal behavior was analyzed with SPSS 17.0.ResultsThe genotypic frequencies of the SNPs did not deviate from Hardy-Weinberg equilibrium both in patient and control groups (P ＞ 0.05 ).Compared with control group,significant difference of genotypes and alleles of TPH2 gene rs1 1178997 single nucleotide polymorphism had been found in patient group (75.7％ vs 39.7％,6.0％ vs 1.3％,18.3％ vs 1.3％ ; P＜ 0.05 for all),and the AA genotype frequency of rsl 1178997 was significantly higher in patients.Meanwhile there were not significant differences between genotypes of TPH2 gene rs11178997 and suicide behavior in patient group.Suicidal behavior of depression patients in allele genotypes was higher than nonsuicide behavior of depression patients (P ＞0.05).ConclusionTPH2 gene rs4570625 single nucleotide polymorphisms have association with the susceptibility of depression.