OBJECTIVETo study the single-nucleotide substitution (c.-16C to T) of the PURATROPHIN-1 gene in spinocerebellar ataxia (SCA) patients in China.

METHODSThe single-nucleotide substitution (c.-16C to T) of the PURATROPHIN-1 gene was detected by PCR, digested with EcoN I, separated on 8% polyacrylamide gel in 68 probands of autosomal dominant SCA families and 119 sporadic SCA patients, who had been excluded CAG/CAA repeat expansion at the SCA1, 2, 3, 6, 7, 17 and dentatorubral-pallidolluysian atrophy (DRPLA) loci. The results were confirmed in four patients by direct sequencing.

RESULTSThe single-nucleotide substitution (c.-16C to T) of the PURATROPHIN-1 gene was not identified in authors' cohort.

CONCLUSIONThe mutation of c.-16C to T of the PURATROPHIN-1 gene might be rare in SCA patients in China.

Asian Continental Ancestry Group ; genetics ; Cohort Studies ; Guanine Nucleotide Exchange Factors ; genetics ; Humans ; Mutation ; Polymerase Chain Reaction ; Polymorphism, Single Nucleotide ; Spectrin ; genetics ; Spinocerebellar Ataxias ; genetics

OBJECTIVETo study the normal range of (CTA/CTG)n repeats of ATXN8OS gene in Chinese Hans, and the frequency of ATXN8OS (CTA/CTG)n repeat expansion in spinocerebellar ataxia(SCA) patients in Mainland China.

METHODSThe (CTA/CTG)n repeats of ATXN8OS gene were detected using fluorescence-PCR, 8% denaturing polyacrylamide gel and capillary electrophoresis technique in 132 SCA patients in whom CAG expansion at the SCA1, SCA2, SCA3, SCA6, SCA7, SCA12, SCA17 and dentatorubral-pallidoluysian atrophy(DRPLA) loci has been excluded, and 261 healthy controls.

RESULTSThere were no obvious abnormal changes of the (CTA/CTG)n repeats of ATXN8OS gene in the 132 SCA patients. Thirty-five SCA patients were homozygotes (26.5%), and the range of CTA/CTG repeat number was 17 to 47 (24.20+/-4.57), among which 18 repeats appeared most frequently. In 261 normal controls, 70 were homozygotes (26.8%), and the range of the CTA/CTG repeat number was from 12 to 43 (24.04+/-4.53), among which 18 repeats was the most frequent.

CONCLUSIONSCA8 is a rare subtype of SCA in Mainland China. The low prevalence of SCA8 seems to be correlated with the low frequency of large (CTA/CTG)n copy number alleles in Chinese population.

Adolescent ; Adult ; Aged ; Alleles ; Asian Continental Ancestry Group ; genetics ; Base Sequence ; Case-Control Studies ; Child ; Child, Preschool ; DNA Mutational Analysis ; Ethnic Groups ; genetics ; Female ; Gene Dosage ; Gene Frequency ; Humans ; Male ; Middle Aged ; Nerve Tissue Proteins ; genetics ; RNA, Long Noncoding ; RNA, Untranslated ; Spinocerebellar Ataxias ; genetics ; Trinucleotide Repeats ; genetics

Objective To evaluate the curative effect of recombinant human Interferon α2b (rhIFN α2b) spray in hand,foot and mouth disease (HMFD).Methods In total,313 HMFD children were enrolled from Beijing Ditan Hospital affiliated to Capital Medical University,Tianjing Second People's Hospital,Hebei Children's Hospital,the Second Hospital affiliated to Wenzhou Medical College,Kunming Maternal and Child Health Hospital and Guiyang Public Health Treatment Center from March,2015 to February,2017.They were divided into rhIFN α2b group (148 cases) and ribavirin group (165 cases).The children in rhIFN α2b group were given with the rhIFN α2b spray,and those in ribavirin group were given with the ribavirin spray.Meanwhile,the children were given unified standard interventions for basic treatment.The curative effect and safety between two groups was compared.The t test was used for intergroup comparison and the Wilcoxon rank test was used for non-normal quantitative data.Results At the end of the follow-up period,all kids reached the recovery level,with 144 cases in the rhIFN α2b group and 164 cases in the ribavirin group.Fever,herpes and rashes all disappeared with 7-day follow-up.The total efficiency of the rhIFN α2b group measured at the 72h after treatment was 74.15％,which showed significant differences compared with the ribavirin group with 49.09 ％ efficiency (Z=4.44,P＜0.01).As the secondary outcome measures,the complete disappearance time of fever and the immediate disappearance time of fever in the rhIFN α2b group were significantly shorter than those in the ribavirin group ([27.03±21.99] vs [33.21±26.71],t=-2.13;[23.56±13.96] vs [28.51±18.84],t=-2.07,both P＜0.05).The appetite improvement and the disappearance times of oral herpes and rashes in the rhIFN α2b group were shorter than those in the ribavirin group,with significant differences (x2 =4.94,3.17 and 3.55,respectively,all P=0.000).No adverse event in both groups.Conclusions rhIFN α2b spray treatment in HMFD is proved significantly effective,particularly,it can evidently relieve fever symptoms and promote the disappearance of oral herpes symptoms,and no adverse event is observed throughout the study,which indicates a good safety of the rhIFN α2b spray.Clinical trial registration Chinese Clinical Trial Registry,ChiCTR-OIN-17013182.

Objective To investigate the relationship of chronic sleep deprivation and high fat diet with laryn-gopharyngeal reflux (LPRD) .Methods A total of 16 rats were randomly divided into the experimental group and control group .Modified multiplatform water surface method and high fat diet (containing 35％ fat) were used in the experimental group rats .The rats in the control group had free sleep and normal feed .The upper gastrointestinal tract pH monitoring with double detectors was used to record the changes of pH in the both rats for 10 hours .The reflux index ,the times of re-flux with pH<4 and the longest duration of reflux were selected and converted into data of 24 hours .The three indexes of the experiment group were compared to those of the control group .Results There was no animal death during the model construction .The rats in the experimental group were irritable .There was no difference of rats weight in both groups before and after the experiment(P>0 .05) .The median of reflux index ,times of reflux with pH<4 and the longest duration of reflux of pharyngeal pH 2 detector in the rats of the experimental group were 21 .07 ,27 .25 and 61 .11 ,respectively .Those of the control group were 1 .25 ,0 .95 and 8 .44 ,respectively .Above three index of the experimental group increased obviously and the difference was statistically significant when compared to those of the control (P<0 .05) .It was suggested that LPRD might appear in the experimental group rats .The median of reflux index and the times of reflux with pH < 4 of esophageal pH1 detector in the rats of the experimental group were 15 .87 and 96 .67 ,displaying an increase when compared to those of the control group (26 .25 and 5 .6) .The differ-ences were statistically significant(P<0 .05);but the median of the longest duration of reflux in pH1 detector of the experimental group rats was 26 .25 ,failing to show statistical difference compared to that of the control group (5 .6) (P>0 .05) .Conclusion Chronic sleep deprivation and high fat diet may play an important role in the pathogenesis of LPRD .This animal model may be a new vector to study LPRD .

Objective: To evaluate the value of multi-detector CT (MDCT) upper airway imaging in the diagnosis of obstructive sleep apnea hypopnea syndrome ( OSAHS) and in determining the location of upper airway obstruction． Methods : MDCT was used to scan the upper airways of 85 clinically confirmed adult patients with different degrees of OSAHS (73 males and 12 females) in calm breathing phase and forced inhalation phase and 60 normal adults (50 males and 10 females) in calm breathing phase to obtain nasal cavity，nasopharynx，palatopharynx and oglosopharynx volumes．Parapharyngeal fat volume was measured in OSAHS patients and normal subjects．In addition，three groups of clinical data related to OSAHS patients were recorded，including sleep apnea hypopnea index (AHI) ，body mass index ( BMI) and lowest blood oxygen saturation ( LaSO2 ) ．Finally，the measured data and clinical data of each group were statistically analyzed. Results : The volume of nasopharynx and palatopharynx in the calm breathing group was significantly smaller than that in the control group，with statistical significance．Palatopharyngeal volume forced inspiratory phase was significantly smaller than calm breathing phase in the experimental group．The parapharyngeal fat volume in the experimental group was significantly higher than that in the control group．AHI was positively correlated with BMI and parapharyngeal fat volume．LaSO2 was negatively correlated with AHI and BMI，respectively． Conclusion MDCT upper airway imaging has good clinical application value in the diagnosis，treatment and postoperative evaluation of OSAHS disease due to the significant anatomical difference between OSAHS patients and normal subjects.