scholarly journals A genotype and phenotype analysis of SMAD6 mutant patients with radioulnar synostosis

2021 ◽  
Author(s):  
Fang Shen ◽  
Yongjia Yang ◽  
Pengcheng Li ◽  
Yu Zheng ◽  
Zhenqing Luo ◽  
...  
Keyword(s):  
Radioulnar Synostosis ◽  
Phenotype Analysis

Molecular profiling and antimicrobial susceptibility of Escherichia coli O157:H7 isolated in Bulgaria

2020 ◽  
Vol 23 (3) ◽  
pp. 310-318
Author(s):  
K. Koev ◽  
T. Stoyanchev ◽  
G. Zhelev ◽  
P. Marutsov ◽  
K. Gospodinova ◽  
...  
Keyword(s):  
Escherichia Coli ◽  
Escherichia Coli O157 ◽  
Acid Sensitivity ◽  
Lower Extent ◽  
Phenotype Analysis ◽  
Anal Swab ◽  
Amoxicillin Clavulanic Acid ◽  
Primary Identification ◽  
Stx1 Gene ◽  
Cattle Farms

The purpose of this study was to detect the presence of shiga-toxin producing Escherichia coli (STEC) in faeces of healthy dairy cattle and to determine the sensitivity of isolates to several anti­microbial drugs. A total of 1,104 anal swab samples originating from 28 cattle farms were examined. After the primary identification, 30 strains were found to belong to serogroup О157. By means of conventional multiplex PCR, isolates were screened for presence of resistance genes stx1, stx2 and eaeА. Twenty-nine strains possesses amplicons with a size corresponding to genes stx2 and eaeA, one had amplicons also for the stx1 gene and one lacked amplicons of all three genes. Twenty-eight strains demonstrated amplicons equivalent to gene H7. The results from phenotype analysis of resistance showed preserved sensitivity to ceftriaxone, ceftazidime, cefotaxime, cephalothin, streptomycin, gentamicin, tetracycline, enrofloxacin and combinations sulfamethoxazole/trimethoprim and amoxicillin/clavulanic acid. Sensitivity to ampicillin was relatively preserved, although at a lower extent.

Pierre Robin Sequence With Esophageal Atresia and Congenital Radioulnar Synostosis

2006 ◽  
Vol 43 (3) ◽  
pp. 317 ◽  
Author(s):  
Keramettin Ugur Ozkan ◽  
Yusuf Kenan Coban ◽  
Murat Uzel ◽  
Mehmet Ergun ◽  
Hafize Oksuz
Keyword(s):  
Esophageal Atresia ◽  
Pierre Robin Sequence ◽  
Radioulnar Synostosis ◽  
Robin Sequence ◽  
Congenital Radioulnar Synostosis ◽  
Pierre Robin

Transformation of pPICZaA-E2 to Pichia pastoris X-33 and Mut+ phenotype analysis

2021 ◽  
Author(s):  
F. Shabihah ◽  
S. Pambudi ◽  
F. A. Sitepu ◽  
C. Ikhsan ◽  
B. Yohan ◽  
...  
Keyword(s):  
Pichia Pastoris ◽  
Phenotype Analysis

Osteogenesis imperfecta tooth level phenotype analysis: Cross-sectional study

Bone ◽  
2021 ◽  
pp. 115917
Author(s):  
Doaa Taqi ◽  
Hanan Moussa ◽  
Timothy Schwinghamer ◽  
Maxime Ducret ◽  
Didem Dagdeviren ◽  
...  
Keyword(s):  
Osteogenesis Imperfecta ◽  
Cross Sectional Study ◽  
Sectional Study ◽  
Cross Sectional ◽  
Phenotype Analysis

scholarly journals Fibrillin-1 gene mutations in a Chinese cohort with congenital ectopia lentis: spectrum and genotype–phenotype analysis

2021 ◽  
pp. bjophthalmol-2021-319084
Author(s):  
Zexu Chen ◽  
Tianhui Chen ◽  
Min Zhang ◽  
Jiahui Chen ◽  
Michael Deng ◽  
...  
Keyword(s):  
Calcium Binding ◽  
Gene Mutations ◽  
Mutation Spectrum ◽  
Missense Mutations ◽  
Ectopia Lentis ◽  
Phenotype Analysis ◽  
Chinese Cohort ◽  
Fibrillin 1 ◽  
Epidermal Growth ◽  
Dependent Probe

AimsTo identify the mutation spectrum and genotype–phenotype correlations of fibrillin-1 (FBN1) mutations in a Chinese cohort with congenital ectopia lentis (EL).MethodsPatients clinically suspected of congenital zonulopathy were screened using panel-based next-generation sequencing followed by multiplex ligation-dependent probe amplification. All the probands were subjected to thorough ocular examinations. Molecular and clinical data were integrated in pursuit of genotype–phenotype correlation.ResultsA total of 131 probands of FBN1 mutations from unrelated families were recruited. Around 65% of the probands were children younger than 9 years old. Overall, 110 distinct FBN1 mutations were identified, including 39 novel ones. The most at-risk regions were exons 13, 2, 6, 15, 24 and 33 in descending order of mutation frequency. The most prevalent mutation was c.184C>T (seven, 5.34%) in the coding sequence and c.5788+5G>A (three, 2.29%) in introns. Missense mutations were the most frequent type (103, 78.63%); half of which were distributed in the N-terminal regions (53, 51.46%). The majority of missense mutations were detected in one of the calcium-binding epidermal growth factor-like domains (62, 60.19%), and 39 (62.90%) of them were substitutions of conserved cysteine residues. Microspherophakia (MSP) was found in 15 patients (11.45%). Mutations in the middle region (exons 22–42), especially exon 26, had higher risks of combined MSP (OR, 5.51 (95% CI 1.364 to 22.274), p=0.017).ConclusionsThis study extended the knowledge of the FBN1 mutation spectrum and provided novel insights into its clinical correlation regarding EL and MSP in the Chinese population.

Anatomic basis of dorsoradial approach for radioulnar synostosis

1998 ◽  
Vol 20 (4) ◽  
pp. 239-242 ◽  
Author(s):  
F. Jin ◽  
M. Skie ◽  
N. A. Ebraheim ◽  
J. Lu
Keyword(s):  
Radioulnar Synostosis ◽  
Anatomic Basis
Sign in / Sign up

Export Citation Format

Share Document