scholarly journals Cystic fibrosis gene mutations and polymorphisms in Saudi men with infertility

2020 ◽  
Vol 40 (4) ◽  
pp. 321-329
Author(s):  
Talal AlMaghamsi ◽  
Naeem Iqbal ◽  
Nabil Abdullrahman Al-Esaei ◽  
Muhsina Mohammed ◽  
Kamel Zein Eddin ◽  
...  
Keyword(s):  
Cystic Fibrosis ◽  
Sample Size ◽  
Conflicts Of Interest ◽  
Direct Sequencing ◽  
Tertiary Care ◽  
Gene Mutations ◽  
Small Sample ◽  
Cystic Fibrosis Gene ◽  
Control Group ◽  
Primary Infertility

ABSTRACT BACKGROUND: Some mutations of the cystic fibrosis transmembrane regulator ( CFTR ) gene may impair spermatogenesis or cause a congenital absence of the vas deferens that manifests as isolated male infertility. OBJECTIVE: Assess the frequency and analyze the spectrum of CFTR gene variations in Saudi men with primary infertility. DESIGN: Prospective, cross-sectional. SETTING: Tertiary care specialist hospital in Jeddah. PATIENTS AND METHODS: Genomic DNA was extracted from peripheral blood samples of Saudi men who presented with primary infertility to the outpatient andrology clinic with either azoospermia or oligoasthenoteratozoospermia. Polymerase chain reaction and direct sequencing were used to identify all variants of the CFTR gene. MAIN OUTCOME MEASURES: Proportion of the patients with a mutant CFTR gene and the spectrum of CFTR gene variations. SAMPLE SIZE: 50 infertile Saudi men. RESULTS: This study identified 10 CFTR gene variants in 7 (14%) subjects (100 chromosomes). The detected variants and polymorphisms were: c.1408G>A, c.4389G>A, c.2562T>G, c.869+11C>T, c.2909-92G>A, c.3469-65C>A, c.1210-6delT, c.1210-6T>A, c.2988+1G>A, and c.1210-13GT>TG. CONCLUSION: We demonstrated that 14% of the study subjects had one or more CFTR mutations and these were compounded in most of the affected patients. The spectrum of CFTR gene mutations in these subjects was similar to the mutations reported in other studies throughout the world. LIMITATIONS: Small sample size and the lack of a control group. CONFLICTS OF INTEREST: None.

MHealth Applications for People with Cognitive Impairment and Their Caregivers: A Scoping Review (Preprint)

2020 ◽  
Author(s):  
Qing Zhao ◽  
Pei Chen ◽  
Yu Zhang ◽  
Haining Liu ◽  
Xianwen Li
Keyword(s):  
Cognitive Impairment ◽  
Sample Size ◽  
Research Design ◽  
Scoping Review ◽  
Life Support ◽  
Small Sample ◽  
Mobile Technologies ◽  
Control Group ◽  
Caregiver Support ◽  
The Impact

BACKGROUND Mobile health application has become an important tool for healthcare systems. One such tool is the delivery of assisting in people with cognitive impairment and their caregivers. OBJECTIVE This scoping review aims to explore and evaluate the existing evidence and challenges on the use of mHealth applications that assisting in people with cognitive impairment and their caregivers. METHODS Nine databases, including PubMed, EMBASE, Cochrane, PsycARTICLES, CINAHL, Web of Science, Applied Science & Technology Source, IEEE Xplore and the ACM Digital Library were searched from inception through June 2020 for the studies of mHealth applications on people with cognitive impairment and their caregivers. Two reviewers independently extracted, checked synthesized data independently. RESULTS Of the 6101 studies retrieved, 64 studies met the inclusion criteria. Three categories emerged from this scoping review. These categories are ‘application functionality’, ‘evaluation strategies’, ‘barriers and challenges’. All the included studies were categorized into 7 groups based on functionality: (1) cognitive assessment; (2) cognitive training; (3) life support; (4) caregiver support; (5) symptom management; (6) reminiscence therapy; (7) exercise intervention. The included studies were broadly categorized into four types: (1) Usability testing; (2) Pilot and feasibility studies; (3) Validation studies; and (4) Efficacy or Effectiveness design. These studies had many defects in research design such as: (1) small sample size; (2) deficiency in active control group; (3) deficiency in analyzing the effectiveness of intervention components; (4) lack of adverse reactions and economic evaluation; (5) lack of consideration about the education level, electronic health literacy and smartphone proficiency of the participants; (6) deficiency in assessment tool; (7) lack of rating the quality of mHealth application. Some progress should be improved in the design of smartphone application functionality, such as: (1) the design of cognitive measurements and training game need to be differentiated; (2) reduce the impact of the learning effect. Besides this, few studies used health behavior theory and performed with standardized reporting. CONCLUSIONS Preliminary results show that mobile technologies facilitate the assistance in people with cognitive impairment and their caregivers. The majority of mHealth application interventions incorporated usability outcome and health outcomes. However, these studies have many defects in research design that limit the extrapolation of research. The content of mHealth application is urgently improved to adapt to demonstrate the real effect. In addition, further research with strong methodological rigor and adequate sample size are needed to examine the feasibility, effectiveness, and cost-effectiveness of mHealth applications for people with cognitive impairment and their caregivers.

CONGENITAL ABSENCE OF THE VAS DEFERENS: INCOMPLETE PENETRANCE OF CYSTIC FIBROSIS GENE MUTATIONS

1997 ◽  
Vol 158 (5) ◽  
pp. 1794-1799 ◽  
Author(s):  
David Shin ◽  
Fred Gilbert ◽  
Marc Goldstein ◽  
Peter N. Schlegel
Keyword(s):  
Cystic Fibrosis ◽  
Vas Deferens ◽  
Gene Mutations ◽  
Congenital Absence ◽  
Cystic Fibrosis Gene ◽  
Incomplete Penetrance

scholarly journals The impact of visual impairment on nutritional status: A systematic review

2018 ◽  
Vol 36 (1) ◽  
pp. 17-30 ◽  
Author(s):  
Nabila Jones ◽  
Hannah Bartlett
Keyword(s):  
Nutritional Status ◽  
Visual Impairment ◽  
Sample Size ◽  
Visually Impaired ◽  
Small Sample Size ◽  
Small Sample ◽  
Control Group ◽  
Visually Impaired People ◽  
Impaired People ◽  
The Impact

The aim of this review was to evaluate the literature that has investigated the impact of visual impairment on nutritional status. We identified relevant articles through a multi-staged systematic approach. Fourteen articles were identified as meeting the inclusion criteria. The sample size of the studies ranged from 9 to 761 participants. It was found that visual impairment significantly affects nutritional status. The studies reported that visually impaired people have an abnormal body mass index (BMI); a higher prevalence of obesity and malnutrition was reported. Visually impaired people find it difficult to shop for, eat, and prepare meals. Most studies had a small sample size, and some studies did not include a study control group for comparison. The limitations of these studies suggest that the findings are not conclusive enough to hold true for only those who are visually impaired. Further studies with a larger sample size are required with the aim of developing interventions.

scholarly journals Coronavirus disease-2019 in cancer patients. A report of the first 25 cancer patients in a western country (Italy)

2020 ◽  
Vol 16 (20) ◽  
pp. 1425-1432 ◽  
Author(s):  
Elisa Maria Stroppa ◽  
Ilaria Toscani ◽  
Chiara Citterio ◽  
Elisa Anselmi ◽  
Elena Zaffignani ◽  
...  
Keyword(s):  
Sample Size ◽  
Antiviral Therapy ◽  
Cancer Patients ◽  
General Hospital ◽  
Small Sample Size ◽  
Statistical Significance ◽  
Western Country ◽  
Small Sample ◽  
Control Group ◽  
Worse Prognosis

Background: We describe cancer patients with coronavirus disease-2019 (COVID-19) infection treated at the Piacenza’s general hospital (north Italy). Materials & methods: 25 cancer patients infected by COVID-19 admitted at the Piacenza’s general hospital from 21 February to 18 March 2020. Outcome from the infection were compared with infected noncancer patients. Results: 20 patients (80%) were treated with antiviral therapy and hydroxychloroquine and five (20%) received hydroxychloroquine alone. Nine (36%) patients died, while 16 (64%) overcome the infection. In the control group the mortality was 16.13% and the overcome from infection was 83.87%. Conclusion: Mortality for COVID-19 was greater in cancer patients when compared with noncancer patients, worse prognosis for older age, women and patients treated with hydroxychloroquine alone. However, the comparisons did not reach statistical significance in most cases. This could be due to the small sample size that is the main limitation of the study.

scholarly journals Acupuncture for Chronic Pain-Related Insomnia: A Systematic Review and Meta-Analysis

2019 ◽  
Vol 2019 ◽  
pp. 1-10
Author(s):  
Fushui Liu ◽  
Jianyu You ◽  
Qi Li ◽  
Ting Fang ◽  
Mei Chen ◽  
...  
Keyword(s):  
Chronic Pain ◽  
Sample Size ◽  
Small Sample Size ◽  
Meta Analysis ◽  
Sham Acupuncture ◽  
Small Sample ◽  
Control Group ◽  
Large Sample Size ◽  
Cure Rate ◽  
Significant Difference

Objectives. Acupuncture has been widely used to relieve chronic pain-related insomnia (CPRI). However, the efficacy of acupuncture for CPRI is uncertain. The purpose of this study was to evaluate the efficacy of acupuncture for CPRI. Methods. Seven electronic databases were searched from inception to December 2018. Randomized controlled trials (RCTs) were included if acupuncture was compared to sham acupuncture or conventional drug therapies for treating CPRI. Two reviewers screened each study and extracted data independently. Statistical analyses were conducted by RevMan 5.3 software. Results. A total of nine studies involving 944 patients were enrolled. The pooled analysis indicated that acupuncture treatment was significantly better than control group in improving effective rate (OR = 8.09, 95%CI = [4.75, 13.79], P < 0.00001) and cure rate (OR = 3.17, 95%CI = [2.35, 4.29], P < 0.00001), but subgroup analysis showed that there was no statistically significant difference between acupuncture and sham acupuncture in improving cure rate (OR =10.36, 95% CI [0.53, 201.45], P=0.12) based on one included study. In addition, meta-analysis demonstrated that acupuncture group was superior to control group in debasing PSQI score (MD = -2.65, 95%CI = [-4.00, -1.30], P = 0.0001) and VAS score (MD = -1.44, 95%CI = [-1.58, -1.29], P < 0.00001). And there was no significant difference in adverse events (OR =1.73, 95%CI = [0.92, 3.25], P =0.09) between the two groups. Conclusions. Acupuncture therapy is an effective and safe treatment for CPRI, and this treatment can be recommended for the management of patients with CPRI. Due to the low quality and small sample size of the included studies, more rigorously designed RCTs with high quality and large sample size are recommended in future.

scholarly journals Cystic fibrosis gene mutations and pancreatitis risk: Relation to epithelial ion transport and trypsin inhibitor gene mutations

2001 ◽  
Vol 121 (6) ◽  
pp. 1310-1319 ◽  
Author(s):  
Peadar G. Noone ◽  
Zhaoqing Zhou ◽  
Lawrence M. Silverman ◽  
Paul S. Jowell ◽  
Michael R. Knowles ◽  
...  
Keyword(s):  
Cystic Fibrosis ◽  
Ion Transport ◽  
Trypsin Inhibitor ◽  
Gene Mutations ◽  
Cystic Fibrosis Gene ◽  
Epithelial Ion Transport ◽  
Inhibitor Gene
Sign in / Sign up

Export Citation Format

Share Document