Objective To study the effects of the numbers of the canalith repositioning procedure on the treatment of benign paroxysmal positional vertigo(BPPV).Methods A clinical study was conducted on 68 BPPV patients using randomized controlled methods.The canalith repositioning procedure was performed on 34 patients in the treatment group only a day for 3 consecutive days,whereas it was performed on 34 patients in the control group once only,patients in both groups took betahistine mesylate tablets and flunarizine hydrochloride on the basis of ma-nipulative reduction.After one week and three months,the efficacy was evaluated,and the recovery situation was observed.ResuIts After 1 week of treatment,the cure rate was 82.4% in the treatment group,and 58.8% in the control group.The difference was statistically significant (P<0.05).After 3 months,the cure rate was 91.2% in the treatment group,and 85.3% in the control group,showing no significant difference (P>0.05 ).ConcIusion Based on the classifications of BPPV ,several times of manipulative reduction combined with drug treatment can im-prove short-term cure rates of BPPV and shorten healing time.

Objective To find the mutation of disease-causing genes of sudden unexplained death syn-drome (SU D S ) in the young by whole exome sequencing in one case. Methods O ne SU D S case was found no obvious fatal pathological changes after conventional autopsy and pathological examination. The whole exome sequencing was performed with the Ion Torrent PGMTM Systemwith hg19 as reference se-quence for sequencing data. The functions of mutations were analyzed by PhyloP, PolyPhen2 and SIFT. A three-step bioinformatics filtering procedure was carried out to identify possible significative single nu-cleotide variation (SN V ), which was missense mutation with allele frequency <1% of myocardial cell. Results Four rare suspicious pathogenic SN V were identified. C ombined with the analysis of convention-al autopsy and pathological examination, the mutation MYOM 2 (8_2054058_G/A ) was assessed as high-risk deleterious mutation by PolyPhen2 and SIFT, respectively. Conclusion Based on the second genera-tion sequencing technology, analysis of whole exome sequencing can be a newmethod for the death cause investigation of SU D S. The gene MYOM2 is a newcandidate SU D S pathogenic gene for mecha-nismresearch.

OBJECTIVETo analyze linkage disequilibrium of 12 short tandem repeat loci on chromosome X (X-STR) among an ethnic Han population from Guilin, Guangxi, and to study the genetic linkage and haplotype distributions of such loci in 2 linkage groups.

METHODS12 X-STR loci including DXS8378, DXS10159, DXS10162, DXS10164, DXS981, DXS6789, DXS7424, DXS101, DXS7133, GATA165B12, GATA31E08 and DXS7423 were genotyped using an AGCU X12 STR PCR Amplification kit. A total of 119 pedigrees were analyzed for linkage and linkage disequilibrium.

RESULTSTwo mutations were found at DXS7424, and 1 mutation was found at DXS10164. A total of 93 haplotypes of DXS10159-DXS10162-DXS10164 were constructed for 261 unrelated males and females, in addition with 167 haplotypes of DXS6789-DXS7424-DXS101-DXS7133. The values of recombination fraction between DXS10159 and DXS10162, DXS10162 and DXS10164, DXS6789 and DXS7424, and DXS7424 and DXS101 were 0.0269, 0.0236, 0.0505 and 0.0438, respectively.

CONCLUSIONLinkage disequilibrium of X-STR does not only depend on physical and genetic distances. There was incomplete linkage relationship between loci on DXS10159-DXS1016-DXS10164 and DXS6789-DXS7424-DXS101 linkage groups.

Adolescent ; Adult ; Asian Continental Ancestry Group ; ethnology ; genetics ; Child ; Child, Preschool ; China ; ethnology ; Chromosomes, Human, X ; genetics ; Female ; Haplotypes ; Humans ; Linkage Disequilibrium ; Male ; Microsatellite Repeats ; Middle Aged ; Pedigree ; Young Adult