Association of Location of Cyst with the family history and Mutated Gene among patients of Myelomeningocele

2021 ◽  
Vol 15 (10) ◽  
pp. 2543-2545
Author(s):  
Urooj Fatima ◽  
Sabahat Gul ◽  
Imran Ishaq ◽  
Sahrish Mukhtar ◽  
Iram Quddus ◽  
...  

Aim: To determine association of location of cyst with the family history and mutated gene among patients of myelomeningocele. Methodology: This cross sectional study consists of fifty diagnosed cases of myelomeningocele and ten healthy individuals taken as controls. The cases were collected from Jinnah Postgraduate Medical Center (JPMC) for a period of six months. The research was conducted in Dow Diagnostic and Research Laboratory (DDRL) (DUHS). Majority of the patients included in the study were neonates. Patients were examined for the presence and site of the cyst. Family history of the patients was also recorded. After taken informed consent from the patient’s attendants, blood was drawn by a trained phlebotomist. DNA was extracted from whole blood followed by PCR amplification of VANGL1 gene. Results: We found that among fifty individuals five patients showed mutation in VANGL1 gene. Mutation was absent entirely from the controls. The cyst was mostly (92%) present in the lumbar region. Only 2% patients showed positive family history. The association between site of the cyst and family history was statistically significant. Conclusion: It is concluded that all mutation of VANGL1 gene was present at lumbar region.There was a strong relation between location of cyst and family history. Keywords: Myelomeningocele, cyst, VANGL1 gene, PCR, mutation.

2021 ◽  
Vol 14 (1) ◽  
Author(s):  
Uzair Abbas ◽  
Bushra Imdad ◽  
Sikander Adil Mughal ◽  
Israr Ahmed Baloch ◽  
Afshan Mehboob Khan ◽  
...  

Abstract Objective MicroRNAs are known to regulate 60% of genes at post translational level. MicroRNAs including Micro RNA-29 family play a vital role in cellular activities and have validate role in numerous metabolic disorders inclusive of diabetes mellitus and its complications. While micro RNA profile changes years before the occurrence of disease. This cross-sectional study was conducted in non-diabetic adults of diabetic and non-diabetic parents to explore the early changes in expression of micro RNA-29 family as it can be served as early biomarker of type 2 diabetes in non-diabetic adults. This study was conducted from January 2019 to January 2021. Micro RNA was extracted from plasma of 50 participants and expression was compared through qPCR. While data was analyzed through SPSS version 21.0. Results 29a and 29b had lower expression in participants with family history of DM compared to those having no family history of DM (P < 0.0001). While micro RNA 29c was found to be significantly higher in participants with positive family history of type 2 diabetes as compared to those without family history of diabetes (P = 0.001).


2020 ◽  
Vol 31 (2) ◽  
pp. 33-44
Author(s):  
Simon Francis ◽  
Obadia V. Nyongole

Background: The incidence of prostate cancer in Tanzania is among the highest recorded in Africa. Prostate cancer is also the most common cancer among men aged 50 years and above in Tanzania. Our study aimed to determine the awareness, knowledge, and attitudes among adult men with age 50 years and above regarding prostate cancer.Methods: This was a cross-sectional study that included 250 adult men aged 50 years and above in Lindi municipal being purposively selected and we interviewed them by using a structured questionnaire. A stratified random sampling method was used for obtaining our participants. All men who had stayed for not less than one year in Lindi and willing to participate were enrolled in the study. These men were selected at households without screening whether or not they had taken prostate screening test or had been diagnosed with prostate cancer Quantitative data were cleaned and analyzed with SPSS version 20.Results: Majority, 216(86.7%) of our study participants were aged 50–69 years and most of them, 142(56.8%) had primary education with 93.2% of them being married. Among the study subjects 7.2% had positive family history of cancer and 195(78%) were aware of prostate cancer with source of information being mass media (62.6%). Majority of them, 63.2%, did not know the risk age group. Few, 20.8% of our participants had good knowledge while majority, 95.2% had negative attitude toward prostate cancer. We found a statistically significant association between level of education, family history and level of knowledge regarding prostate cancer with p < 0.005.Conclusion: This study revealed high level of awareness, but poor knowledge regarding prostate cancer and negative attitude toward prostate cancer among men with age ≥50 years in Lindi municipal Tanzania. Key words: Awareness, knowledge, attitude, prostate cancer.


Gut ◽  
2019 ◽  
Vol 69 (2) ◽  
pp. 304-310 ◽  
Author(s):  
Siew C Ng ◽  
Moe Htet Kyaw ◽  
Bing Yee Suen ◽  
Yee Kit Tse ◽  
Martin C S Wong ◽  
...  

ObjectiveThe risk associated with a family history of non-advanced adenoma (non-AA) is unknown. We determined the prevalence of colorectal neoplasms in subjects who have a first-degree relative (FDR) with non-AA compared with subjects who do not have an FDR with adenomas.DesignIn a blinded, cross-sectional study, consecutive subjects with newly diagnosed non-AA were identified from our colonoscopy database. 414 FDRs of subjects with non-AA (known as exposed FDRs; mean age 55.0±8.1 years) and 414 age and sex-matched FDRs of subjects with normal findings from colonoscopy (known as unexposed FDRs; mean age 55.2±7.8 years) underwent a colonoscopy from November 2015 to June 2018. One FDR per family was recruited. FDRs with a family history of colorectal cancer were excluded. The primary outcome was prevalence of advanced adenoma (AA). Secondary outcomes included prevalence of all adenomas and cancer.ResultsThe prevalence of AA was 3.9% in exposed FDRs and 2.4% in unexposed FDRs (matched OR (mOR)=1.67; 95% CI 0.72 to 3.91; p=0.238 adjusted for proband sex and proband age). Exposed FDRs had a higher prevalence of any adenomas (29.2% vs 18.6%; mOR=1.87; 95% CI 1.32 to 2.66; p<0.001) and non-AA (25.4% vs 16.2%; mOR=1.91; 95% CI 1.32 to 2.76; p=0.001). A higher proportion of exposed FDRs than unexposed FDRs (4.3% vs 2.2%; adjusted mOR=2.44; 95% CI 1.01 to 5.86; p=0.047) had multiple adenomas. No cancer was detected in both groups.ConclusionA positive family history of non-AA does not significantly increase the risk of clinically important colorectal neoplasia. The data support current guidelines which do not advocate earlier screening in individuals with a family history of non-AA.Trial registration numberNCT0252172.


2020 ◽  
Vol 31 (1) ◽  
pp. 16-29
Author(s):  
Nehemia Kilongo ◽  
Francis F. Furia

Background: Enuresis is common childhood disorders which affecting quality of life of children and causing significant psychosocial disturbances to children and their families. This condition has been widely reported globally with increasing data from sub-Saharan African region. In Tanzania there is no reports on its magnitude and therefore this study was carried out with the aim of determine the prevalence of this condition among children in Tanzania.Methods: This was a community based cross-sectional study conducted among children aged between 5 and 14 years recruited from 12 streets in Morogoro Municipality in Tanzania. Standardized Swahili questionnaire was used to collect data including socio-demographic details of parents,  children and presence of enuresis. Socio-demographic data included age of the child, sex, level of education of the parents, education of the child, presence of bed wetting, history of enuresis in the family.Results: Five hundred and ten children were recruited into this study out of which 271 (53.1%) were females and mean age of study participants was 9±2.8 years. Enuresis was noted in 19% (97/510) of children, 68% (66/97) and 32% (31/97) had primary and secondary enuresis respectively. Significantly higher prevalence rates of enuresis were noted for children aged below 8 years 26.4% (43/162) and those with family history of enuresis 47% (18/38) with p values of 0.01 and < 0.001 respectively. Forty-one (42.3%) out of 97 respondents whose children had enuresis reported to have punished their children and only 21.4% (20/97) reported to have sought treatment for their children.Conclusions: Enuresis is common among children in Tanzania particularly those with positive family history. Punishment to children with enuresis was noted in this study and only one in five parents/guardians sought treatment for their affected children. Therefore, there is a need for initiatives for raising community awareness about enuresis in Tanzania Key words: Enuresis in children, prevalence of enuresis in Tanzania, factors affecting enuresis in children.


2021 ◽  
Author(s):  
Pedro Pallangyo ◽  
Lucy R. Mgopa ◽  
Zabella Mkojera ◽  
Makrina Komba ◽  
Jalack Millinga ◽  
...  

Abstract Background: There is mounting evidence for a reciprocal yet bidirectional association between sleep-disordered breathing and hypertension. Obstructive sleep apnea (OSA), a common cause of systemic hypertension is an independent risk factor for hypertension-related cardiovascular morbidity and mortality. In this comparative hospital-based cross-sectional study, we sought to explore the burden of obstructive sleep apnea and its associated risk factors among hypertensive patients attending Jakaya Kikwete Cardiac Institute.Methodology: A total of 1974 individuals (i.e. 1289 hypertensive and 685 normotensives) were consecutively enrolled in this study. The Berlin questionnaire and Epworth Sleepiness Scale were utilized in the assessment of OSA and excessive daytime sleepiness (EDS) respectively. Logistic regression analyses were employed in the determination of associated factors for OSA. Results: The mean age was 53.4 years and females constituted the large majority (60.4%) of participants. About three quarters (74.1%) of participants had excess body weight, 11.6% had diabetes, 8.0% had asthma and 18.6% had history of recurrent nasal congestion. Positive family history of snoring was reported by 43.1% of participants and 36.9% had a personal history of snoring. Persons with hypertension displayed a higher frequency (42.1%) of OSA compared to their normotensive counterparts (11.8%), p<0.001. Multivariate logistic regression analyses revealed hypertension (OR 5.1, 95% CI 3.2-8.2, p<0.001), diabetes mellitus (OR 2.2, 95% CI 1.3-3.5, p<0.01), chronic nasal congestion (OR 1.6, 95% CI 1.1-2.5, p = 0.01), obesity (OR 2.4, 95% CI 1.8-3.3, p<0.001), increased neck circumference (OR 2.7, 95% CI 1.2-6.4, p = 0.02), family history of snoring (OR 5.5, 95% CI 4.0-7.5, p<0.001), and working >8hrs/24hr (OR 0.6, 95% CI 0.4-1.0, p = 0.03) to have an independent association for OSA. Furthermore, participants with hypertension displayed superior odds for OSA compared to their normotensive counterparts across all subgroup analyses. Conclusion: OSA is considerably common among hypertensives in a tertiary health care setting in Tanzania. Positive family history of snoring was the strongest associated factor; however, excess body weight proved to be the strongest modifiable risk factor. In view of its pervasiveness, OSA should be an integral part of the medical evaluation in hypertensive individuals.


2019 ◽  
Vol 19 (1) ◽  
Author(s):  
Maryam Molaei-Zardanjani ◽  
Mitra Savabi-Esfahani ◽  
Fariba Taleghani

Abstract Background Breast cancer is the most prevalent cancer in women, and in those with a positive family history, it is important to perform mammography. One of the probable barriers in doing mammography is fatalism. Methods This is a descriptive/cross-sectional study conducted on 400 women residing in Isfahan, Iran, randomly selected in 2017. Sampling was done randomly among the enrolled women in Health Integrity System. The data collection tool was a questionnaire regarding the demographic-fertility information and fatalism. The data analysis was done by SPSS software. A P-value < 0.05 was considered statistically significant. Results The results showed that the mean rate of fatalism was 59.5 ± 23.2 in women with the experience of mammography, and 65.9±18.7 in women without the experience. Moreover, the mean rate of fatalism was 73.1±15.2 in subjects with a family history of breast cancer, and 59.3 ± 22.5 in those no family history related to this condition. Accordingly, fatalism was statistically significant associated (P < 0.001) with a family history of breast cancer and experience of mammography. There was no significant relationship between demographic information and fatalism (P > 0.05). Conclusion The results indicated that fatalism in women with no experience of mammography was higher than in those with a positive history. Regarding the necessity of mammography in women with a family history of breast cancer, the required interventions seem to be essential to changing the viewpoints of women regarding the importance and effect of mammography as a screening method for breast cancer.


2021 ◽  
Vol 5 (1) ◽  
Author(s):  
Pedro Pallangyo ◽  
Lucy R. Mgopa ◽  
Zabella Mkojera ◽  
Makrina Komba ◽  
Jalack Millinga ◽  
...  

Abstract Background There is mounting evidence for a reciprocal yet bidirectional association between sleep-disordered breathing and hypertension. Obstructive sleep apnea (OSA), a common cause of systemic hypertension is an independent risk factor for hypertension-related cardiovascular morbidity and mortality. In this comparative hospital-based cross-sectional study, we sought to explore the burden of obstructive sleep apnea and its associated risk factors among hypertensive patients attending Jakaya Kikwete Cardiac Institute. Methodology A total of 1974 individuals (i.e. 1289 hypertensive and 685 normotensives) were consecutively enrolled in this study. The Berlin questionnaire and Epworth Sleepiness Scale were utilized in the assessment of OSA and excessive daytime sleepiness (EDS) respectively. Logistic regression analyses were employed in the determination of associated factors for OSA. Results The mean age was 53.4 years and females constituted the large majority (60.4%) of participants. About three quarters (74.1%) of participants had excess body weight, 11.6% had diabetes, 8.0% had asthma and 18.6% had history of recurrent nasal congestion. Positive family history of snoring was reported by 43.1% of participants and 36.9% had a personal history of snoring. Persons with hypertension displayed a higher frequency (42.1%) of OSA compared to their normotensive counterparts (11.8%), p < 0.001. Multivariate logistic regression analyses revealed hypertension (OR 5.1, 95% CI 3.2-8.2, p < 0.001), diabetes mellitus (OR 2.2, 95% CI 1.3-3.5, p < 0.01), chronic nasal congestion (OR 1.6, 95% CI 1.1-2.5, p = 0.01), obesity (OR 2.4, 95% CI 1.8-3.3, p < 0.001), increased neck circumference (OR 2.7, 95% CI 1.2-6.4, p = 0.02), family history of snoring (OR 5.5, 95% CI 4.0-7.5, p < 0.001), and working > 8 h/24 h (OR 0.6, 95% CI 0.4-1.0, p = 0.03) to have an independent association for OSA. Furthermore, participants with hypertension displayed superior odds for OSA compared to their normotensive counterparts across all subgroup analyses. Conclusion OSA is considerably common among patients with hypertension in a tertiary health care setting in Tanzania. Positive family history of snoring was the strongest associated factor; however, excess body weight proved to be the strongest modifiable risk factor. In view of its pervasiveness, OSA should be an integral part of the medical evaluation in hypertensive individuals.


2016 ◽  
Vol 34 (1) ◽  
pp. 30-35 ◽  
Author(s):  
Jasper Plath ◽  
Andrea Siebenhofer ◽  
Insa Koné ◽  
Marlene Hechtner ◽  
Sylvia Schulz-Rothe ◽  
...  

2021 ◽  
pp. jnnp-2020-325620
Author(s):  
Ivanna M. Pavisic ◽  
Kirsty Lu ◽  
Sarah E. Keuss ◽  
Sarah-Naomi James ◽  
Christopher A. Lane ◽  
...  

ObjectiveTo investigate subjective cognitive decline (SCD) in relation to β-amyloid pathology and to test for associations with anxiety, depression, objective cognition and family history of dementia in the Insight 46 study.MethodsCognitively unimpaired ~70-year-old participants, all born in the same week in 1946 (n=460, 49% female, 18% amyloid-positive), underwent assessments including the SCD-Questionnaire (MyCog). MyCog scores were evaluated with respect to 18F-Florbetapir-PET amyloid status (positive/negative). Associations with anxiety, depression, objective cognition (measured by the Preclinical Alzheimer Cognitive Composite, PACC) and family history of dementia were also investigated. The informant’s perspective on SCD was evaluated in relation to MyCog score.ResultsAnxiety (mean (SD) trait anxiety score: 4.4 (3.9)) was associated with higher MyCog scores, especially in women. MyCog scores were higher in amyloid-positive compared with amyloid-negative individuals (adjusted means (95% CIs): 5.3 (4.4 to 6.1) vs 4.3 (3.9 to 4.7), p=0.044), after accounting for differences in anxiety. PACC (mean (SD) −0.05 (0.68)) and family history of dementia (prevalence: 23.9%) were not independently associated with MyCog scores. The informant’s perception of SCD was generally in accordance with that of the participant.ConclusionsThis cross-sectional study demonstrates that symptoms of SCD are associated with both β-amyloid pathology, and more consistently, trait anxiety in a population-based cohort of older adults, at an age when those who are destined to develop dementia are still likely to be some years away from symptoms. This highlights the necessity of considering anxiety symptoms when assessing Alzheimer’s disease pathology and SCD.


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