Objective To quantify the right ventricular (RV) function in patients with left heart disease (LHD) related pulmonary hypertension (PH) by two-dimensional speckle tracking imaging (2D-STI),and explore its potential value in diagnosis of reactive PH.Methods Forty healthy volunteers and 65 patients with LHD related PH were enrolled.PH patients were further divided into two subgroups according to pulmonary vascular resistance(PVR):passive PH group and reactive PH group.A complete 2D-STI derived longitudinal strain of RV free wall was performed,and the basal,middle,apical longitudinal peak systolic strain (LS) and RV free wall global LS (RVLSbas,RVLSmid,RVLSapi and RVLSfw) were measured.Results Compared to control group,RVLSbas and RVLSfw in reactive PH group decreased significantly (all P ＜0.05).Compared to passive PH group,RVLSbas and RVLSfw in patients with reactive PH decreased significantly (all P ＜0.05).The differences of RVLSbas and RVLSfw between control group and passive PH group had no statistical significance (all P ＞0.05).No significant differences in etiology and left ventricular ejection fraction (LVEF) were observed between PH subgroups (all P ＞0.05).The area under the ROC curve of RVLSbas in predicting reactive PH was 0.93,the cut-off value was-21.86,and the sensitivity and specificity were 83 ％ and 89 ％,respectively.The area under the ROC curve of RVLSfw was 0.79,the cut-off value was-13.84,and the sensitivity and specificity were 59％ and 89％,respectively.Conclusions 2D-STI can realize quantitative assessment of RV function in patients with LHD related PH.RVLSbas and RVLSfw may have important clinical value in diagnosing patients with reactive PH,and differential diagnosis value between patients with passive PH and patients with reactive PH.

Objective To screen the sequence of fibroblast growth factor receptor 3 (FGFR3) genes in children with dys-chondroplasia and their family members for searching the mutations. Methods The sequence of exon 10 and exon 13 in muta-tion hot spot region of FGFR3 gene in seven families was analyzed using polymerase chain reaction (PCR) and DNA sequenc-ing technology. Results The c.1138G>A missense mutation in exon 10 was found in 4 probands who were diagnosed as achon-droplasia (ACH), while this mutation was absent in their parents. The c.1620C>A missense mutation in exon 13 was found in one girl and her mother who both were diagnosed as hypochondroplasia (HCH) with mild symptoms. Neither mutation men-tioned above was found in the other two probands. Conclusions Through detecting the mutation in exon 10, exon 13 of FGFR3 gene, most patients of ACH or HCH can be finally diagnosed. However, it is necessary to perform the mutation screening on the other zones of FGFR3 gene and on other related genes for a few cases.

Purpose To investigate the relationship of infundibular bladder neck formation with pelvic floor support structure injury and urethral sphincter defect and its significance in female stress urinary incontinence.Materials and Methods The pelvic floor images of seventy-four female patients with stress urinary incontinence treated in the outpatient Department of Lanzhou University Second Hospital from April 2015 to August 2016 were analyzed retrospectively.The location of the bladder neck,posterior vesicourethral angle and the infundibular bladder neck formation were observed by the transperineal ultrasound under the resting state and the maximum Valsalva status.Meanwhile the thickness of middle urethral sphincter was measured under resting state.At the same time,eighty-one women visiting our hospital for regular physical examination were enrolled as control group.Results The infundibular urinary bladder neck formation rate (66.2％) in the stress urinary incontinence group was significantly higher than that in the control group (4.9％) under maximum Valsalva state,the difference was statistically significant (P＜0.05).The extent of the bladder neck descending and posterior vesicourethral angle in the stress urinary incontinence group were notably higher than those in the control group,both of the difference was statistically significant (P＜0.05).Stress urinary incontinence was confirmed with urethral sphincter defect by urodynamics in nine patients,in whom the infundibular bladder neck occurred.The thickness of the middle urethral sphincter in these nine patients showed no obvious difference with that in patients without sphincter defect and subjects in normal control group (P＞0.05).Conclusion The infundibular bladder neck formation,which is closely related to the pelvic floor support structure dysfunction and urethral sphincter defect,is an important indication of stress urinary incontinence.However,the assessment of urethral sphincter defect through urethral sphincter thickness need to be further studied.

Sialidosis is a rare lysosomal storage disease caused by NEU1 gene mutation at 6p21.33. It is characterized by myoclonic, ataxia, epilepsy, and decreased vision. A pair of twins with sialidosis type 1 are reported to enrich clinicians ′ understanding of the disease, so as to improve the diagnosis and treatment. The proband was a 16-year-old male. The main symptom was intermittent limb involuntary trembling for 2 years, with paroxysmal loss of consciousness. Fundus examination showed cherry-red spots. His twin brother had similar symptoms, but the overall performance was mild. Whole exome sequencing results showed that both patients carried compound heterozygous mutations of c.239C>T (p.P80L) and c.803A>G (p.Y268C) in NEU1 gene, which were from their normal phenotype mother and father.

Marinesco-Sj?gren syndrome (MSS), also known as hereditary ataxia-dwarf-mental retardation syndrome, is a rare autosomal recessive ataxia syndrome. This article reviews the recent advance in clinic characteristics, pathogenic gene mutation sites, pathogenesis and clinic diagnosis and treatment of MSS, in order to improve clinicians' understanding of the disease and diagnosis and treatment level, and reduce the missed diagnosis and misdiagnosis of the disease.