scholarly journals Rare compound heterozygous missense SPATA7 variations and risk of schizophrenia; whole-exome sequencing in a consanguineous family with affected siblings, follow-up sequencing and a case-control study

2019 ◽  
Vol Volume 15 ◽  
pp. 2353-2363
Author(s):  
Hirofumi Igeta ◽  
Yuichiro Watanabe ◽  
Ryo Morikawa ◽  
Masashi Ikeda ◽  
Ikuo Otsuka ◽  
...  
Keyword(s):  
Exome Sequencing ◽  
Whole Exome Sequencing ◽  
Case Control Study ◽  
Case Control ◽  
Compound Heterozygous ◽  
Consanguineous Family ◽  
Whole Exome ◽  
Control Study

scholarly journals Determinants of short birth interval among women in South Gondar, Ethiopia: community-based unmatched case-control study

2021 ◽  
Vol 79 (1) ◽  
Author(s):  
Gedefaye Nibret Mihretie ◽  
Fentahun Yenealem Beyene ◽  
Bekalu Getnet Kassa ◽  
Alemu Degu Ayele ◽  
Tewachew Muche Liyeh ◽  
...  
Keyword(s):  
Antenatal Care ◽  
Birth Interval ◽  
Case Control Study ◽  
Birth Spacing ◽  
Case Control ◽  
Community Based ◽  
Short Birth Interval ◽  
South Gondar ◽  
Control Study

Abstract Background The effect of short birth interval on socio-economic, negative maternal and child health outcomes remains common in developing countries. This study aimed to assess determinants of short birth interval among reproductive age women, who gave birth in health institution for last six-month in South Gondar, Ethiopia 2019. Methods Community-based unmatched case control study design was conducted from February 1 to March 30, 2019. Sample size of 150 was included by simple random sampling technique. The data was collected by semi-structured and pre-tested face to face interviewer-administered questionnaire from selected respondent. The collected data was entered with Epi-Data version 3.1 and analyzed by using SPSS version 23 software. Bivariate and multivariable analyses were used to examine the association. Odds ratio, 95% CI and P-value < 0.05 were used to determine the statistical association. Result The mean age of the respondents was 32.42 (SD ± 5.14) and 35.12 (SD ± 5.86) for cases and controls, respectively. Mothers not used contraceptives (AOR = 6.29, 95% CI (1.95, 20.24)), participants who had ≤2 alive children (AOR = 5.57, 95% CI (1.47, 21.13)), mothers who breast fed less than 24 months (AOR = 3.42, 95% CI (1.38, 8.46)), husband decision on contraceptives utilization (AOR = 2.69,95% CI (1.05,6.88)) and mothers who did not have history of antenatal care follow up (AOR = 3.52, 95% CI (1.27, 9.75)) were associated with short birth interval. Conclusion The optimum birth spacing plays a vital role in decreasing fertility and the morbidity and mortality of mothers and children. Thus, providing health information on the benefit of breast feeding, follow-up of antenatal care during pregnancy, use of contraceptives after delivery and encouraging mothers to make decisions about their own health and use of contraceptives to optimize birth spacing for rural communities.

scholarly journals Laminoplasty with selective fusion at unstable segment versus laminectomy with fusion for multilevel cervical myelopathy: a case‐control study

2021 ◽  
Vol 22 (1) ◽  
Author(s):  
Lin Du ◽  
Yanzheng Gao ◽  
Changqing Zhao ◽  
Tangjun Zhou ◽  
Haijun Tian ◽  
...  
Keyword(s):  
Symptom Severity ◽  
Cervical Myelopathy ◽  
Case Control Study ◽  
Case Control ◽  
Axial Symptom ◽  
Segmental Instability ◽  
Neurologic Status ◽  
Multilevel Cervical Myelopathy ◽  
Control Study

Abstract Background Segmental cervical instability is a risk factor for the progression of osteophytic bone spurs and development of myelopathy, and is treated as a relative contraindication of cervical laminoplasty. The aim of this study was to compare laminoplasty with selective fixation (LPSF) versus laminectomy with fusion (LCF) in patients with multilevel cervical myelopathy accompanied by segmental instability. Methods A case-control study was conducted by reviewing data from 63 patients who underwent LPSF (n = 30) or LCF (n = 33). Cervical alignment, range of motion (ROM), neurologic status and axial symptom severity pre-operation, 3-days after operation, and at the final follow-up (minimum 24 months) were measured and compared between groups. Results Postoperation, patients in the LPSF group lost 31.1 ± 17.3 % of cervical lordosis and 43.2 ± 10.9 % cervical ROM while patients in the LCF group lost 5.7 ± 8.2 % and 67.9 ± 15.5 %, respectively. Both LPSF and LCF groups significantly improved neurologic status and axial symptom severity at the final follow-up with similar between-group results(P > 0.05). Blood loss, operation time, hospital stay, and medical cost in the LPSF group were significantly less than in the LCF group(P < 0.05). Conclusions In 2 years of clinical observation, LPSF was effective in maintaining the stability of the cervical spine with less sacrifice of mobility and surgical trauma for multilevel myelopathy with segmental instability compared to LCF.

scholarly journals Whole-exome sequencing reveals a novel homozygous mutation in the COQ8B gene associated with nephrotic syndrome

2021 ◽  
Vol 11 (1) ◽  
Author(s):  
Mohd Fareed ◽  
Vikas Makkar ◽  
Ravi Angral ◽  
Mohammad Afzal ◽  
Gurdarshan Singh
Keyword(s):  
Nephrotic Syndrome ◽  
Disease Management ◽  
Exome Sequencing ◽  
Whole Exome Sequencing ◽  
Homozygous Mutation ◽  
Consanguineous Family ◽  
Clinical Prognosis ◽  
Whole Exome ◽  
Recurrent Mutations ◽  
Ckd Stage

AbstractNephrotic syndrome arising from monogenic mutations differs substantially from acquired ones in their clinical prognosis, progression, and disease management. Several pathogenic mutations in the COQ8B gene are known to cause nephrotic syndrome. Here, we used the whole-exome sequencing (WES) technology to decipher the genetic cause of nephrotic syndrome (CKD stage-V) in a large affected consanguineous family. Our study exposed a novel missense homozygous mutation NC_000019.9:g.41209497C > T; NM_024876.4:c.748G > A; NP_079152.3:p.(Asp250Asn) in the 9th exon of the COQ8B gene, co-segregated well with the disease phenotype. Our study provides the first insight into this homozygous condition, which has not been previously reported in 1000Genome, ClinVar, ExAC, and genomAD databases. In addition to the pathogenic COQ8B variant, the WES data also revealed some novel and recurrent mutations in the GLA, NUP107, COQ2, COQ6, COQ7 and COQ9 genes. The novel variants observed in this study have been submitted to the ClinVar database and are publicly available online with the accessions: SCV001451361.1, SCV001451725.1 and SCV001451724.1. Based on the patient's clinical history and genomic data with in silico validation, we conclude that pathogenic mutation in the COQ8B gene was causing kidney failure in an autosomal recessive manner. We recommend WES technology for genetic testing in such a consanguineous family to not only prevent the future generation, but early detection can help in disease management and therapeutic interventions.

Gastric cellular turnover and the development of atrophy after 31 years of follow-up: a case-control study

1999 ◽  
Vol 94 (8) ◽  
pp. 2109-2114 ◽  
Author(s):  
S. F. Moss ◽  
J. Valle ◽  
A. M. Abdalla ◽  
S. Wang ◽  
M. Siurala ◽  
...  
Keyword(s):  
Case Control Study ◽  
Case Control ◽  
Cellular Turnover ◽  
Control Study
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