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Long noncoding RNA (lncRNA) are defined as noncoding RNA with a length of more than 200 nucleotides, which can regulate a variety of cellular processes. LncRNA H19 is widely involved in the pathophysiological process of intestinal inflammation and intestinal cancer by regulating the function of intestinal mucosal barrier. This article reviewed the effect of lncRNA H19 on intestinal mucosal barrier under different intestinal states and inflammation-cancer related signaling pathway.
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Objeetive To analyze the efficacy and safety of diazoxide treatment in patients with congenital hyperinsulinism (CHI).Methods The clinical data of 145 patients diagnosed with CHI hospitalized in Beijing Children's Hospital affiliated to Capital Medical University from February 2002 to January 2016 who received diazoxide treatment were retrospectively analyzed.We conducted a detailed analysis on the efficacy,side effects and prognosis of diazoxide treatment for CHI.Results In 145 patients,there were 89 patients (61.4％) who were responsive to diazoxide and 23 patients (15.9％) unresponsive to diazoxide,and the treatment effect of diazoxide for the other 33 cases (22.8％) was still unclear.In the diazoxide effective group,there were 22 cases (24.7％) of neonatal onset,32 cases (36.0％)of onset from 1-6 months after birth and 35 cases (39.3％) of onset after 6 months of birth,and the birth weight was normal in 67 cases,macrosomia in 16 cases,low in 5 cases and unknown in 1 case.In the diazoxide ineffective group,there were 14 cases (60.8％) of neonatal onset,7 cases (30.4％) of onset from 1-6 months after birth and 2 cases (8.6％)of onset after 6 months of birth,and the birth weight was normal in 9 cases and macrosomia in 14 cases.In the unclear diazoxide effect group,there were 20 cases (60.6％) of neonatal onset,9 cases (27.34％) of onset from 1-6 months after birth and 4 cases (12.1％) of onset after 6 months of birth,and the birth weight was normal in 15 cases and macrosomia in 18 cases.After the application of diazoxide,65 cases (44.8％) had hirsutism,and 43 patients (29.7％) had gastrointestinal side effects.In the diazoxide effective group,the symptom of hypoglycemia was spontaneously alleviated at the age of from 3 months to 7 years old in 20 patients (22.5％),and 33 patients continued to be treated by diazoxide.In the diazoxide ineffective group,the symptom of hypoglycemia was spontaneously alleviated around the age of 1 years old in 4 patients (17.3％),5 patients were treated by octreotide in long term to maintain normal blood sugar level,4 patients received pancreectomy including 3 with normal blood sugar and 1 with occasional hypoglycemia after surgery.In the unclear diazoxide effect group,the symptom of hypoglycemia was spontaneously alleviated at the age of from 10 months to 3 years old in 4 patients (12.1％),2 patients were treated by octreotide in long term to maintain normal blood sugar level,8 patients received pancreatectomy including 5 with controlled blood sugar after surgery.Conclusions Diazoxide is effective in treating CHI children.The efficiency may be higher for the CHI with normal birth weight or whose onset age is after the neonatal period.
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Objective To explore the reaction time and attention bias characteristics of patients with first-episode depressive disorder.MethodsTotally 32 patients with first-episode depressive disorder (MD group) and 24 non-depression control participants(NC group) matched with MD group on age,gender and education level were enrolled in the study.The clinical symptoms were assessed by Beck Depression Inventory(BDI).All participants completed a dot-probe task to assess attentional preference for facial stimuli with varying valence (happy,sad and neutral facial expressions).ResultsThe reaction times(RTs) of MD group was longer than that of NC group in the dot-probe task ((468.6±87.7)ms,(451.7±82.5)ms,P<0.01).The four-way ANOVA revealed a significant main effect of prime duration,indicating overall shorter RTs on primes with longer duration ((476.9±88.4)ms vs (456.2±82.7)ms vs (447.7±83.9)ms,P<0.01).Compared with NC group,the scores of attention bias for sad faces were decreased in MD group ((7.43±26.4)ms vs (-4.97±19.5)ms,P<0.05).With the longer duration of presentation,the score of attention maintenance of emotional facies for MD group were increased (happy faces: (-11.0±4.8)ms,(2.2±6.9)ms,(6.1±8.5)ms;angry faces:(-1.6±7.5)ms,(6.5±8.6)ms,(14.9±6.7)ms).The adherence score of attention to happy faces were decreased ((1.8±5.6)ms,(-8.2±6.7)ms,(-8.7±7.1)ms),while the score of adherence score towards sad faces were increased ((-7.6±7.2)ms,(-2.6±8.5)ms,(1.5±6.2)ms) with increasing prime duration.ConclusionPatients with first-episode depressive disorder have slower response to emotional faces and associated with attentional bias for sad faces.With the increasing prime duration,it is more and more obvious to attentional bias in the two aspects of allocation and adherence.
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Objective To analyze the clinical characteristics and gene mutations of 56 patients with congenital hyperinsulinism(CHI)and to provide a theoretical basis for clinical diagnosis and treatment of CHI.Methods Fifty-six children who were diagnosed as CHI between February 2002 and January 2016 in Beijing Children's Hospital Affiliated to Capital Medical University were selected as research subjects.A retrospective study was done about the clinical data and the treatment procedures of the 56 patients,such as perinatal conditions,clinical manifestations,laboratory data,treatments,prognosis and so on.Polymerase chain reaction(PCR)-DNA technology or next-generation sequencing technology was used to analyze the CHI relevant genes of the 56 patients.Results Thirty of the 56 patients carried CHI gene mutation.(1)Twenty-three of 56 patients(41.0％)carried ABCC8/KCNJ11 gene mutations:4 of 23 patients carried complex heterozygous mutation,1 of 23 patients carried both ABCC8 and KCNJ11 gene mutation,1 of 23 patients carried maternally inherited ABCC8 gene mutation,12 of 23 patients carried paternally inherited ABCC8 gene mutation,1 of 23 patients carried paternally inherited KCNJ11 gene mutation,3 of 23 patients carried de novo ABCC8 gene mutation,1 of 23 patients had unknown genetic way,19 of 23 patients were treated with Diazoxide,2 of 19 patients were responsive to Diazoxide,7 of 19 patients were unresponsive to Diazoxide and 10 of 19 patients were uncertain to Diazoxide.(2)Five of 56 patients(8.9％)carried GLUD1 gene mutation,4 of 5 patients were treated with Diazoxide and they were all responsive to Diazoxide.(3)One of 56 patients(1.7％)carried de novo GCK gene mutation,responsive to Diazoxide treatment.(4)One of 56 patients(1.7％)carried maternally inherited SLC16A1 gene mutation,responsive to Diazo-xide treatment.Conclusions The ABCC8 gene and GLUD1 gene mutation are the main causative genes of CHI.The GCK gene and SLC16A1 gene mutation are in the minority.Most ABCC8 gene and KCNJ11 gene mutation are unresponsive to Diazoxide treatment.
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A 2-month-and-20-day-old girl was hospitalized because of slow weight gain for 20 days.The patient was diagnosed as anemia,pneumonia and neutrophils firstly,and showed no improvement during anti-infective therapy,blood transfusion,and leukopenia drugs.The urinary organic acid spectrum of the patient showed increased methylmalonic acid slightly,but the normal value was found by 4 tests,which was inconsistent with the typical methylmalonic aciduria.By analyzing clinical manifestations and plasma homocysteine,folic acid and vitamin B12 levels,she was considered to have intracellular cobalamin metabolic disorder.Then,normal diet,intramuscular injection of vitamin B12,and feeding calcium,betaine,and L-carnitine were given,and the girl's symptoms were improved significantly.Latter gene analysis further showed that the patient had methylmalonic aciduria CblC type.Clinical manifestations of methylmalonic aciduria are complex and individually various,different therapies showed be applied to different causes.The value of urinary methylmalonic acid level alone cannot judge etiology;diagnosis should be based on blood amino acids and carnitine spectrum,homocysteine level and vitamin B12 level.
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Objective To summarize the clinical data of 194 patients with congenital hyperinsulinism(CHI),in order to provide the theoretical basis for the diagnosis,treatment and prognosis of CHI.Methods One hundred and ninety-four patients with CHI hospitalized in Beijing Children's Hospital Affiliated to Capital Medical University from February 2002 to January 2016 were recruited.Clinical data of 194 patients were collected and clinical characteristics and treatment were retrospectively analyzed.Results One hundred and forty-four cases in 194 patients were treated with Diazoxide,among whom,88 cases were responsive to Diazoxide,23 cases were unresponsive to Diazoxide,and 33 cases were uncertain to Diazoxide.Twenty-six cases in 194 cases were treated with Octreotide,among whom,16 cases were responsive to Octreotide,5 cases were unresponsive to Octreotide,and 5 cases were uncertain to Octreotide.Eleven cases in 194 cases had the 18 Fluoride-L-dihydroxyphenylalanine positron emission computerized tomography scan (18-F-L-DOPA-PET scan),among whom,7 cases were identified as focal lesion and 4 cases were identified as diffuse lesion.Twelve cases in 194 cases were treated with pancreatectomy,among whom,4 cases achieved normal blood glucose levels,4 cases still suffered from persistent hypoglycemia,3 cases had type 1 diabetes mellitus,and 1 case dropped out after the surgery.Forty-five cases in 194 cases had spontaneous remission and the remission time varied from 1 month to 8 years.Conclusions (1) Diazoxide is the first line drug of CHI.The older age onset is,the higher possibility of responsive to Diazoxide shows.(2)Octreotide is used as the second line drug.(3)18-F-L-DOPA-PET scan is the first choice to identify the location of CHI and it is useful in distinguishing between focal and diffuse forms.(4) The outcome of CHI patients after pancreatectomy is very different.A proper surgical method should be selected before the surgery.The blood glucose should be detected after surgery for a long time.(5) Some patients have the tendency of spontaneous remission.
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Objective To investigate the effects of mental health and sleep quality of the armored military performance ,pro-viding a theoretical basis for improving the performance of military officers and soldiers .Methods 276 armored military were se-lected randomly to study the performance ,including military training program evaluation(40% ) ,armored vehicles operating assess-ment(40% ) and leadership assessment(20% ) ,the test results as a percentage of the sum to exceed 80 divided into good and poor performance for the military .Symptom Checklist(SCL-90) and Scale Pittsburgh Sleep Quality Index(PSQI) were assessed ,and to evaluate the performance differences between good and poor military .Results (1)The good performance of armored military were 61 .2% ,and 38 .8% ones were poor .(2)The SCL-90 scores ,interpersonal sensitivity ,anxiety and hostility factors of good military performance were significantly lower than those with poor military performance(P<0 .05) .(3)The PSQI scores of Good military performance was 5 .83 ± 2 .94 ,and the poor was 7 .63 ± 3 .85 ;The sleep quality ,sleep latency ,sleep efficiency and daytime dysfunc-tion factors of good military performance subjective were significantly lower than those of poor military performance(P<0 .05) . Conclusion Psychological status and quality of sleep are important factors to influence performance of military armored force .
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Objective To explore the influence factors of hyperarousal,personality characteristics and coping strategies on the vulnerability to stress-related sleep disturbance.Methods A total of 345 sleep good healthy volunteers were recruited bypurposive sampling technique.Every participant completed an extensive survey that included the general condition questionnaire,Ford Insomnia Response to Stress Test (FIRST),PreSleep Arousal Scale (PSAS),NEO Personality Inventory-Revised (NEOPI-R),Coping Inventory for Stressful Situations (CISS) and Heart Rate Variability(HRV).All participants were classified as High risk group andLow risk group by using the FIRST criterion.Results The high risk group was younger than the low risk group (27.91±8.22 vs 24.82±7.73,P＜0.01),and had a higher percentage of females (34.7％ vs 53.4％,P＜0.05).The high risk group showed significantly higher scores in PSAS total (30.11±6.22),pesleep cognitive arousal (17.73± 4.51),presleep somatic arousal (12.78 ± 3.23),neuroticism (3.13 ± 0.51),emotion oriented (48.98 ± 10.54),but lower score in extraversion (2.96±0.54),then those indicators of the low risk group (28.52±5.82,16.32±4.32,11.41±2.75; 3.11±0.56,2.87±0.47,46.23±11.21,3.11±0.56,P＜0.01 or 0.05).There were significant difference between the two group in LF/HF (1.51 ±0.19 vs 1.17±0.11,P＜0.01),HF((311.21 ±72.32) ms2/Hz vs (490.43 ± 91.74)ms2/Hz,P＜0.01),LF((469.49±85.67)ms2/Hzvs (573.21±98.75) ms2/Hz,P＜0.01) in HRV.Results of linear regression analysis showed that gender,and scores of PSAS total,cognitive arousal,presleep cognitive arousal,presleep somatic arousal,neuroticism,emotion oriented and LF/HF were significant correlation with FIRST score (P＜0.01 or 0.05).Conclusion Presleep cognitive and somatic arousal,neurotic character may be the premorbid characteristics of stress-related sleep disturbance,and bad stress coping strategies are easy to promote the development of insomnia.
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Objective To compare with the effect of high-frequency repetitive transcranial magnetic stimulation (rTMS) between the left and the right prefrontal on refractory negative symptoms and serum brain-derived neurotrophic factor (BDNF). Methods 80 hospitalized schizophrenics with refractory negative symptoms were divided into study group (n=40) and control group (n=40) randomly. Both groups were received 4-week treatment of 10 Hz rTMS. The stimulus lo?cation of the study group was the left prefrontal, and the control group was the right prefrontal. The type and dose of anti?psychotics remained unchanged during the treatment. The evaluation of positive and negative symptom scale (PANSS) and the measurement of BDNF concentration before treatment and after 4 weeks treatment was analyzed. Results Com?pared with before treatment, the total score of PANSS after treatment significantly decreased (P<0.05) both in the study group [(71.2±13.8) vs. (63.3±11.4)] and the control group [(70.3±13.4) vs. (63.7±12.2)]. The score of negative symptoms in the study group decreased [(22.8±6.6) vs. (18.4±5.9), P<0.01]. The BDNF concentration increased in the study group ](6.78±2.16) vs. (8.74±2.76)] and the control group [(6.83±2.32) vs. (8.66±2.70)]. Conclusion 10Hz rTMS on the left pre?frontal combined with drugs are helpful to improve the refractory negative symptom of the patients with schizophrenia. Stimulation on both left and right prefrontal lobe could increase serum BDNF concentration.
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<p><b>OBJECTIVE</b>To summarize the clinical features of idiopathic hypogonadotropic hypogonadism (IHH) diagnosed during childhood, and detect mutations in KAL1 and FGFR1, acting as key clues for diagnoses.</p><p><b>METHOD</b>We collected and analyzed clinical data of 21 cases (including demographic data, chief complaint, history of present illness, family history, physical examination, laboratory tests and imaging studies, etc.) diagnosed with IHH from December 2008 to February 2013. Polymerase chain reaction and gene sequencing was applied to detect mutations on KAL1 and FGFR1. Fifty healthy unrelated individuals were choosen as controls.</p><p><b>RESULT</b>Of 21 patients with IHH, 19 were males and 2 females, they visited us initially from 8-17 years old, with an average of (13.58 ± 2.38) years old. Sixteen cases were KS patients (76%). One boy reported abnormal sense of smelling but having olfactory perfect picture on MRI; 2/19 male cases had no puberty when they were over 13-14 years old without abnormal external genitalia. 8/19 cases only had small penis, 8/19 had both of cryptorchidism and small penis, and the Case 2 also had hypospadias. One boy had cryptorchidism combined with a normal penis. Only 2 girls diagnosed as IHH who visited us because of no puberty signs when they were 13 and 16 years old, respectively. Other clinical manifestations included: one with gynecomastia, 2 had mental retardation, and one was deaf; one with high palatal arch; one with mirror-movement and one with left renal agenesis but normal renal function respectively. Laboratory tests showed that the basic testosterone (T) is low and with inappropriately low or normal gonadotropin hormones. The results of cases of standard human chorionic gonadotropin (HCG) test of 7 cases out of 19 male children's were normal (testosterone>1 100 ng/L), and another nine cases continued to complete the extended HCG test, and the testosterone levels of two of them (cases 6, 8) were still lower than 1 000 ng/L. Family history: the parents in 9/21 family had delayed puberty, involving only one parent in 6 families, involving both in 2 families and the other one was an uncle having micropenis with a child. Among these 21 cases, only one boy's father had hyposmia and his first emission age was 14-15 years. Eleven patients accompanied abnormal sense of smelling and the olfactory organ abnormalities on MRI, 4 had olfactory organ abnormalities on MRI while they had good smelling function self-reportedly. We got 15 samples (12 KS and 3 nIHH cases) to screen the mutation of KAL1 (14 exons) and FGFR1 (18 exons). A splicing mutation c.1062+1G>A in KAL1 is identified in case 17 with IHH. One novel heterozygous FGFR1 mutation, a single base deletion mutation on the exon 1 c.27delC is identified in case 14. This mutation causes the premature termination codons.</p><p><b>CONCLUSION</b>This pilot research showed that IHH/KS diagnosis in children depends on clinical manifestation rather than gene analysis. Small penis or cryptorchidism, smelling abnormality and positive familial history may contribute to the KS/HH diagnosis. MRI of olfactory bulb acts as important proof for diagnosis of KS. Mutations in KAL1 and FGFR1 gene are not main causes of Kallmann syndrome.</p>
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Adolescent , Child , Female , Humans , Male , DNA Mutational Analysis , Exons , Genetics , Extracellular Matrix Proteins , Genetics , Heterozygote , Hypogonadism , Diagnosis , Genetics , Kallmann Syndrome , Genetics , Mutation , Genetics , Nerve Tissue Proteins , Genetics , Olfaction Disorders , Receptor, Fibroblast Growth Factor, Type 1 , Genetics , Sexual MaturationABSTRACT
Objective To analyze the clinical characteristics and the endocrine changes in children with craniopharyngioma,and to improve the pediatrician understanding of the disease.Methods The study subjects consisted of 14 children with craniopharyngioma admitted to the Department of Endocrinology,Beijing Children's Hospital Affiliated to Capital Medical University from Jan.2004 to Dec.2012.All the patients were followed up to analyze the clinical symptoms improvement,endocrine test results and medication,et al.Results The main clinical manifestations were headache (7/14 cases,50.0％),growth retardation(4/14 cases,28.6％),vomiting (4/14 cases,28.6％),polydipsia/ polyuria (3/14 cases,21.4％) and vision diminution (3/14 cases,21.4％).Three patients didn' t undergo the surgery,and 3 cases with diabetes insipidus and 2 cases with growth hormone deficiency,and 1 case with central hypothyroidism by laboratory test.The rest 11 children received surgery and all patients had changes in endocrine after it.Five cases got polydipsia and polyuria,other 5 cases had electrolyte disturbances,and 2 cases had epilepsy.Nine patients were followed up,and the follow-up duration ranged from 5 months to 10 years [(3.29 ± 3.52) years] after surgery.Seven patients got better and 2 patients got worse.Conclusions For clinical symptoms of increased intracranial pressure,changes in endocrine,the vision and visual field,the possibility of craniopharyngioma should be taken into account.Surgery is the main treatment,but it can lead to the damage of hypothalamus and pituitary gland.Changes in endocrine,electrolyte disturbances and epilepsy are the common complications.According to the level of endocrine,longterm hormone replacement therapy for some postoperative patients should be continued.
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Objective To investigate the effect of three-level network of vaccination on immunization rates of planned immunization vaccine,and provide science basis for planned immunization work.Methods Immunization rates of children in 131 villages under administration of Xiaolan People's Hospital of Zhongshan were investigated according to PPS from 2007 to 2010,and were compared before and after the establishment of three-level network of vaccination.Results After the establishment of three-level network of vaccination,rates of certification,and vaccination rates of OPV,DPT,and HBV were all increased significantly,vaccination rates of BCG were not raised obviously.Conclusions The establishment of three-level network of vaccination can increase immunization rates of planned immunization vaccine.