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Original Article:
Applying Two Different Bioinformatic Approaches to Discover Novel Genes Associated with Hereditary Hearing Loss via Whole-Exome Sequencing: ENDEAVOUR and HomozygosityMapper
Mohammad Reza Pourreza, Hannane Mohammadi, Ladan Sadeghian, Samira Asgharzadeh, Mohammadreza Sehhati, Mohammad Amin Tabatabaiefar
Adv Biomed Res
2018, 7:141 (31 October 2018)
DOI
:10.4103/abr.abr_80_18
PMID
:30505812
Background:
Hearing loss (HL) is a highly prevalent heterogeneous deficiency of sensory-neural system with involvement of several dozen genes. Whole-exome sequencing (WES) is capable of discovering known and novel genes involved with HL.
Materials and Methods:
Two pedigrees with HL background from Khuzestan province of Iran were selected. Polymerase chain reaction-sequencing of
GJB2
and homozygosity mapping of 16 DFNB loci were performed. One patient of the first and two affected individuals from the second pedigree were subjected to WES. The result files were analyzed using tools on Ubuntu 16.04. Short reads were mapped to reference genome (hg19, NCBI Build 37). Sorting and duplication removals were done. Variants were obtained and annotated by an online software tool. Variant filtration was performed. In the first family, ENDEAVOUR was applied to prioritize candidate genes. In the second family, a combination of shared variants, homozygosity mapping, and gene expression were implemented to launch the disease-causing gene.
Results:
GJB2
sequencing and linkage analysis established no homozygosity-by-descent at any DFNB loci. Utilizing ENDEAVOUR,
BBX
: C.C857G (
P
.A286G), and
MYH15
: C.C5557T (
P
.R1853C) were put forward, but none of the variants co-segregated with the phenotype. Two genes,
UNC13B
and
TRAK1,
were prioritized in the homozygous regions detected by HomozygosityMapper.
Conclusion:
WES is regarded a powerful approach to discover molecular etiology of Mendelian inherited disorders, but as it fails to enrich GC-rich regions, incapability of capturing noncoding regulatory regions and limited specificity and accuracy of copy number variations detection tools from exome data, it is assumed an insufficient procedure.
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Original Article:
Comparison the Effects of Oral Tizanidine and Tramadol on Intra- and Post-operative Shivering in Patients Underwent Spinal Anesthesia
Leili Adinehmehr, Sohrab Salimi, Mohammad Azad Majedi, Azadeh Alizadeh, Shahryar Sane
Adv Biomed Res
2018, 7:140 (31 October 2018)
DOI
:10.4103/abr.abr_54_18
PMID
:30505811
Background:
Heat loss and core-to-peripheral redistribution of body heat occur in patients undergoing neuraxial anesthesia resulted to decrease of core temperature and early reach of shivering threshold. Because shivering has deleterious metabolic and cardiovascular effects, it should ideally be prevented by pharmacologic or other means. Tizanidine is an alpha-2 agonist. We evaluated the usefulness of oral tizanidine (TI) and tramadol in preventing of shivering in patients undergoing spinal anesthesia for transurethral resection of the prostate (TURP).
Materials and Methods:
Ninety patients, scheduled for TURP with spinal anesthesia, were prospectively enrolled. Patients were randomly assigned to 1 of 3 groups. 90 min before spinal anesthesia, 30 patients received 4 mg oral TI, 30 patients received 50 mg tramadol, and 30 patients received placebo as control group. Spinal anesthesia was induced at the L3–L4 or L4–L5 interspaces with 12.5 mg bupivacaine. An investigator blinded to the drugs recorded the frequency and degree of shivering.
Results:
The overall frequency and severity of shivering were significantly lower in patients treated with TI and tramadol compared to placebo (
P
= 0.04) (
P
= 0.001). There was not much difference in the nausea and vomiting of both the drugs (
P
= 026) (
P
= 011). There was no difference in hemodynamic parameters between three groups (
P
= 0.08) (
P
= 013).
Conclusions:
Oral TI and tramadol were comparable in respect to their effect in decreasing the incidence, intensity shivering when used prophylactically in patients who underwent TURP with spinal anesthesia.
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Original Article:
Impact of Health Information Prescription on Self-care of Women with Breast Cancer
Masoomeh Latifi, Nader Alishan Karami, Mozhdeh Beiraghdar, Fatemeh Maraki, Leili Allahbakhshian Farsani
Adv Biomed Res
2018, 7:139 (31 October 2018)
DOI
:10.4103/abr.abr_142_18
PMID
:30505810
Background:
Women with breast cancer experience various challenges. Prescription of health information provides appropriate information at appropriate time to the appropriate person and plays a role in empowering self-care and improving health. The current research aims to evaluate the effect of health information prescription on self-care power of women with breast cancer.
Materials and Methods:
This semi-experimental quantitative study was done using pretest and posttest method in one group of 61 women with breast cancer selected from the Women's Cancer Center of Khatamolanbia Hospital using purposive sampling method. Data were collected by an author-made self-care questionnaire and patients' self-care score was calculated at the first visit (before health information prescription) and the second visit (after health information prescription). Data were analyzed using the SPSS version 23 software and analysis of variance at a statistical significance level of
P
< 0.05.
Results:
Total mean score of self-care in women with breast cancer was 40.97 and 115.3 before and after health information prescription, respectively. Increase of mean was observed in all subscales of self-care score from pretest to posttest so that change in posttest was higher in subscales of effective implementation of treatment and prevention from disabilities and personal functioning regulation (39.44), specialized knowledge on breast cancer (30.46), searching medical services and cooperation with treatment group (28.59), and awareness and attention to impacts and results of breast cancer (16.81).
Conclusion:
Health information prescription improves self-care power of women with breast cancer, and it is necessary to provide health information services in order to support women's self-care by the health authorities.
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Original Article:
Youth Violence and Related Risk Factors: A Cross-sectional Study in 2800 Adolescents
Parastoo Golshiri, Ziba Farajzadegan, Anita Tavakoli, Kamal Heidari
Adv Biomed Res
2018, 7:138 (31 October 2018)
DOI
:10.4103/abr.abr_137_18
PMID
:30505809
Background:
Youth violence is an important public health challenge, and the literature on this problem in developing countries has been limited. The present study aims to determine the prevalence of violence its related risk factors in in a sample of students in Isfahan, Iran.
Materials and Methods:
In this cross-sectional study, 2800 middle and high school, aged 11–18 years in urban and rural areas selected in a multistage sampling procedure and were questioned using a self-administered questionnaire. Collected data included sociodemographic and family characteristics, students' knowledge, verbal and physical violence (as a perpetrator and/or victim), risk-taking behaviors (weapon carrying, threatening behaviors), family violent status, watching movies, and accessibility of sport facilities.
Results:
The prevalence of verbal and physical violence in studied students was 45% and 33.3%, respectively. The prevalence of verbal and physical victimization was 45.8% and 23.6%, respectively. The prevalence of physical violence was higher in middle school students than high school students (
P
= 0.0001) and in boys was higher than in girls (
P
= 0.0001). Being boy, carried a weapon out of home or in school, victimization, feel unsafe at school, and violence in the family are the significant related risk factors with students violence (
P
< 0.05).
Conclusion:
The prevalence of students' violence in Iranian students is similar to the most of other developing countries, although, high rate violence and related risk factors emphasize the need for comprehensive and interventional prevention programs to reduce and manage student violence and associated risk behaviors.
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