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BACKGROUND@#Maturity-onset diabetes of the young (MODY) is the most common monogenic diabetes. The aim of this study was to assess the prevalence of MODY in phenotypic type 2 diabetes (T2DM) among Chinese young adults.@*METHODS@#From April 2015 to October 2017, this cross-sectional study involved 2429 consecutive patients from 46 hospitals in China, newly diagnosed between 15 years and 45 years, with T2DM phenotype and negative for standardized glutamic acid decarboxylase antibody at the core laboratory. Sequencing using a custom monogenic diabetes gene panel was performed, and variants of 14 MODY genes were interpreted as per current guidelines.@*RESULTS@#The survey determined 18 patients having genetic variants causing MODY (6 HNF1A , 5 GCK , 3 HNF4A , 2 INS , 1 PDX1 , and 1 PAX4 ). The prevalence of MODY was 0.74% (95% confidence interval [CI]: 0.40-1.08%). The clinical characteristics of MODY patients were not specific, 72.2% (13/18) of them were diagnosed after 35 years, 47.1% (8/17) had metabolic syndrome, and only 38.9% (7/18) had a family history of diabetes. No significant difference in manifestations except for hemoglobin A1c levels was found between MODY and non-MODY patients.@*CONCLUSION@#The prevalence of MODY in young adults with phenotypic T2DM was 0.74%, among which HNF1A -, GCK -, and HNF4A -MODY were the most common subtypes. Clinical features played a limited role in the recognition of MODY.
Assuntos
Humanos , Diabetes Mellitus Tipo 2/diagnóstico , Estudos Transversais , Mutação , Prevalência , FenótipoRESUMO
Objective The present study aimed to investigate the molecular characterizations and virulence factors mediating adhesion of S.agalactiae.Methods All the 6 GBS strains from maternity ward, 4 isolated from the blood of neonates and 2 isolated from the vaginal secretions of their mothers, were performed antimicrobial susceptibility tests through disk diffusion method,and analyzed by multilocus sequence typing(MLST)and pulse field gel electrophoresis typing(PFGE)to determine the relationship between the strains and whether it was nosocomial infection or not.The S.agalactiae isolates were subjected to capsular genotyping by PCR.Determinants of adherence factors were also detected by PCR and sequencing,including surface proteins and pilus-like structures.Results The results of antimicrobial susceptibility tests of 7 /13/37/66 are the same,while 142 and 158 are the same but different from the other 4 strains.The MLST results indicate that 7 /13/37/66 are of the same sequence type ST-12,while 142 and 158 are ST-19.PFGE results have further proved that 7/13/37/66 are of the same clone type,and 142 and 158 were another clone type.The strains of 7/13/37/66 are serotype Ib,and contain bac,bca,and alp2/3 genes,while 142 and 158 are serotype III and contain ε gene.All the six strains contain PI-1 and PI-2a genes.Conclusions There are not only vertical but also horizontal transmissions in the 4 cases,which may be a nosocomial infection event.Six strains all contained primary adhesion factor of S.agalactiae: surface proteins and pilus-like structures,which indicates that all the 6 strains has a strong toxicity in adhesion and spread.The hospitals should reinforce the prenatal examination of S.agalactiae and control the nosocomial infection.
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Objective To compare the clinical effects of palpation, ultrasound and electromyography (EMG) guided injection of botuli-num toxin type A (BTX-A) on spastic equinovarus in stroke patients. Methods Stroke patients with equinovarus were randomly assigned to palpation-guided group (n=19), ultrasound-guided group (n=21) and EMG-guided group (n=19). All of the patients received injection of BTX-A 300 U in gastrocnemius, soleus and tibialis posterior, guided in their own ways. They were measured with modified Ashworth Scale (MAS), Physician Rating Scale (PRS), speed of gait, passive range of motion (PROM) of ankle dorsiflexion and eversion before and 2 weeks, 4 weeks, 8 weeks, and 12 weeks after injection. Results Compared with the baseline, all the indexes significantly improved after in-jection in all the groups (P<0.05). Compared with the EMG-guided group, the ultrasound-guided group improved significantly MAS at 4 weeks, PROM of ankle eversion at 4 and 12 weeks (P=0.046, P=0.008, P=0.038). Compared with the palpation-guided group, the ultra-sound-guided group improved significantly in MAS (P=0.015), PRS (P=0.01), PROM of ankle dorsiflexion and eversion (P=0.003, P=0.011) at 4 weeks, in MAS (P=0.002) and PROM of ankle dorsiflexion (P=0.022) at 8 weeks, in MAS (P=0.011) and PROM of ankle ever-sion (P=0.018) at 12 weeks. Compared with the palpation-guided group, the EMG-guided group improved significantly in PRS at 4weeks, PROM of ankle dorsiflexion at 4 and 8 weeks (P=0.048, P=0.08, P=0.026). There was no significantly difference in the variations with the time among 3 groups. Conclusion The correction of equinovarus in stroke patients can be obtained by BTX-A injection with any type of guidance technique. Ultrasound-guided technique is considered a valid alternative, which has a slight advantage over EMG-guided tech-nique. Both the EMG-and ultrasound-guided techniques obtained superior results to palpation-guided technique.