scholarly journals Familial aggregation of multiple sclerosis: Results from the national registry of the disease in Saudi Arabia

2020 ◽  
Vol 6 (4) ◽  
pp. 205521732096049
Author(s):  
Mohammed AlJumah ◽  
Hessa Al Otaibi ◽  
Ghada Al Towaijri ◽  
Ahmed Hassan ◽  
Abid Kareem ◽  
...  
Keyword(s):  
Multiple Sclerosis ◽  
Saudi Arabia ◽  
Family History ◽  
Environmental Factors ◽  
Familial Aggregation ◽  
Statistical Significance ◽  
National Registry ◽  
P Value ◽  
Parental Consanguinity ◽  
History Of

Background Multiple Sclerosis (MS) is a chronic CNS inflammatory disease commonly affecting young adults. Both genetics and environmental factors have been reported to have a role in pathophysiology of the disease. Objective This article aims to report familial nature and aspects of MS in Saudi Arabia. Method The study utilized data collected by the National Saudi MS Registry between 2015 and 2018; especially data relevant to the familial history of MS. SPSS 22 was used for all analysis and reporting. Statistical significance was set at p-value < 0.05. Results The registry included 20 hospitals and a total of 2516 patients from the different regions of Saudi Arabia with median age 32.00 (Range: 11–63) and 66.5% being female. About 12.8% of all registered patients reported a family history of MS (95%CI: 11.2-13.9). Reported parental consanguinity was significantly higher among patients with family history (FMS) (56.3%) compared to non-FMS patients (27.9%). 42.53% of FMS patients reported having siblings affected with MS (95%CI: 37.01–48.21), with more female siblings affected than males (63.4% vs 36.6% respectively). Conclusion Our Findings suggested that FMS was less prevalent than what was reported previously; however, parental consanguinity was significantly more prevalent among FMS patients than non-FMS. Our findings were in line with those reported in recent studies in the region, but lower than those reported by western countries indicating that increasing prevalence of MS in Saudi Arabia could be multifactorial and other environmental factors should be considered for understanding this recent rise in the prevalence of MS in Saudi Arabia.

scholarly journals Knowledge and Awareness Regarding Premarital Screening of β-thalassemia among Undergraduate Students in Bangladesh

2021 ◽  
Vol 4 (01) ◽  
Author(s):  
Samina Pervin ◽  
Hafiza Sultana ◽  
Tanvir Ahmed ◽  
Aysha Haque ◽  
Md. Golam Abbas ◽  
...  
Keyword(s):  
Family History ◽  
Undergraduate Students ◽  
Statistical Significance ◽  
Family Type ◽  
P Value ◽  
Parental Consanguinity ◽  
Premarital Screening ◽  
History Of ◽  
Level Of Knowledge ◽  
Blood Screening

Introduction: Thalassemia is the most common congenital single gene disorder in Bangladesh. Considering the nature of the disease inherited from parents, thalassemia can effectively be prevented by premarital blood screening before marriage. The aim of the study was to assess the level of knowledge and awareness regarding premarital screening of β-thalassemia among undergraduate students. Materials and Methods: This cross sectional study was conducted among conveniently selected 156 undergraduate students of 2 universities at Dhaka University and American International University-Bangladesh (AIUB) from January to December 2019. Data were collected by pretested semi-structured questionnaire through face to face interview. Data was analyzed using SPSS software version 23.   Results: It was found that about 49.5%, 43.6% and 7.1% of respondents had poor, average and good knowledge about premarital screening of β-thalassemia respectively where there was statistical significance between the  level of knowledge and the parental consanguinity and the family history of thalassemia (p-value<.05). On the other hand, 66.7%, 32.1% and 1.3% had poor, average and good awareness in this regards respectively. The level of awareness was significantly associated with the parental consanguinity, family history of thalassemia, monthly income and family type (p-value<.05).   Conclusion: This study showed knowledge and awareness levels among undergraduate students regarding premarital screening of β-thalassemia were insufficient. The thalassemia prevention can be enhanced by a well-organized educational program focusing on thalassemia and early screening in young adults.   Keywords: Thalassemia; gene disorder; premarital blood screening

scholarly journals Genome-wide association study identifies a novel susceptibility locus at 6p21.3 among familial CLL

Blood ◽  
2011 ◽  
Vol 117 (6) ◽  
pp. 1911-1916 ◽  
Author(s):  
Susan L. Slager ◽  
Kari G. Rabe ◽  
Sara J. Achenbach ◽  
Celine M. Vachon ◽  
Lynn R. Goldin ◽  
...  
Keyword(s):  
Family History ◽  
Genome Wide Association Study ◽  
Statistical Significance ◽  
Familial Risk ◽  
Lymphocytic Leukemia ◽  
Genome Wide Association ◽  
P Value ◽  
Nucleotide Polymorphisms ◽  
Genome Wide ◽  
History Of

Abstract Prior genome-wide association (GWA) studies have identified 10 susceptibility loci for risk of chronic lymphocytic leukemia (CLL). To identify additional loci, we performed a GWA study in 407 CLL cases (of which 102 had a family history of CLL) and 296 controls. Moreover, given the strong familial risk of CLL, we further subset our GWA analysis to the CLL cases with a family history of CLL to identify loci specific to these familial CLL cases. Our top hits from these analyses were evaluated in an additional sample of 252 familial CLL cases and 965 controls. Using all available data, we identified and confirmed an independent association of 4 single-nucleotide polymorphisms (SNPs) that met genome-wide statistical significance within the IRF8 (interferon regulatory factor 8) gene (combined P values ≤ 3.37 × 10−8), located in the previously identified 16q24.1 locus. Subsetting to familial CLL cases, we identified and confirmed a new locus on chromosome 6p21.3 (combined P value = 6.92 × 10−9). This novel region harbors the HLA-DQA1 and HLA-DRB5 genes. Finally, we evaluated the 10 previously reported SNPs in the overall sample and replicated 8 of them. Our findings support the hypothesis that familial CLL cases have additional genetic variants not seen in sporadic CLL. Additional loci among familial CLL cases may be identified through larger studies.

scholarly journals Prevalence of Hereditary Cancer Susceptibility Syndromes (HCSS) in Acute Lymphoblastic Leukemia (ALL): A Cross-Sectional Study in a Highly Consanguineous Population.

2021 ◽  
Author(s):  
Sara Aslam ◽  
Shabana NA ◽  
Mehboob Ahmed
Keyword(s):  
Acute Lymphoblastic Leukemia ◽  
Family History ◽  
Genetic Counselling ◽  
Cancer Susceptibility ◽  
Lymphoblastic Leukemia ◽  
P Value ◽  
Early Age ◽  
Parental Consanguinity ◽  
History Of ◽  
History Of Cancer

Abstract Background: Hereditary cancer susceptibility syndrome (HCSS) has been reported to impact cancer predisposition at an early age, therefore, identification of HCSS has found to be crucial for surveillance, managing therapeutic interventions and referring the patients and their families for genetic counselling. The aims of this study are to assess the prevalence of HCSS as hereditary leukemia and hematologic malignancy syndrome by using ACMG guidelines and to assess parental consanguinity as the criterion for referring patients for the genetic counselling. Methods: A total of 300 acute lymphoblastic leukemia subjects were recruited from the Children’s Hospital, Lahore, Pakistan during the period of December 2018 to September 2019. Structured self-reporting questionnaire based on family and medical history of the disease was utilized for the data collection.Results: In our cohort, 60.40% of ALL patients were identified to have HCSS and among them 40.65% patients solely fulfil the criteria due to the presence of parental consanguinity. Parental consanguinity was shown to have protective impact on the onset at early age of disease [OD=0.44 (0.25-0.77), p-value= 0.00] while family history of cancer increase the risk of cardiotoxicity [OD= 2.46 (1.15-5.24), p-value=0.02]. Parental consanguinity in the population shows no significant impact on the family history of cancer and the number of relatives with cancer. Conclusions: The higher prevalence of HCSS in Pakistani population is attributed to the presence of parental consanguinity in more than 50% of the patients when assessed through ACMG guidelines. Our study suggests revisiting ACMG guidelines for the criterion of parental consanguinity in the highly consanguineous population and formulating the score based criteria for the identification of inherited ALL for genetic counselling.

scholarly journals Analysis Of Family Cases With Type I Diabetes Mellitus In A Group Of Pediatric Patients From Constanţa County

2012 ◽  
Vol 18 (1) ◽  
pp. 13-18
Author(s):  
Irina Franciuc ◽  
Cristina Maria Mihai ◽  
Alina Martinescu ◽  
Loredana Mariana Aftenie ◽  
Adina Honcea
Keyword(s):  
Type 1 Diabetes ◽  
Family History ◽  
Pediatric Patients ◽  
Type I Diabetes ◽  
Statistical Significance ◽  
P Value ◽  
Type I ◽  
History Of ◽  
Index Cases

AbstractThe aim of this study was to present the cases with family history of type 1 diabetes in a group of pediatric patients from the Clinic of Pediatrics, Constanta County Hospital, and to analyze the risk for relatives conferred by presence of particular DR genotypes. 8 out of 60 index cases had relatives affected with type 1 diabetes (13.33%). Of these, four had firstdegree relatives affected (6.67%) and were presented here. Although high-risk genotypes were more frequent in the group of familial cases, no association was found between DR genotype and family history of type 1 diabetes when statistical significance was tested (p value 0.119).

scholarly journals Vitamin D status and risk of type 2 diabetes in the Norwegian HUNT cohort study: does family history or genetic predisposition modify the association?

2021 ◽  
Vol 9 (1) ◽  
pp. e001948
Author(s):  
Marion Denos ◽  
Xiao-Mei Mai ◽  
Bjørn Olav Åsvold ◽  
Elin Pettersen Sørgjerd ◽  
Yue Chen ◽  
...  
Keyword(s):  
Type 2 Diabetes ◽  
Family History ◽  
Genetic Predisposition ◽  
Effect Modification ◽  
P Value ◽  
Family History Of Diabetes ◽  
Increased Risk ◽  
History Of

IntroductionWe sought to investigate the relationship between serum 25-hydroxyvitamin D (25(OH)D) level and the risk of type 2 diabetes mellitus (T2DM) in adults who participated in the Trøndelag Health Study (HUNT), and the possible effect modification by family history and genetic predisposition.Research design and methodsThis prospective study included 3574 diabetes-free adults at baseline who participated in the HUNT2 (1995–1997) and HUNT3 (2006–2008) surveys. Serum 25(OH)D levels were determined at baseline and classified as <50 and ≥50 nmol/L. Family history of diabetes was defined as self-reported diabetes among parents and siblings. A Polygenic Risk Score (PRS) for T2DM based on 166 single-nucleotide polymorphisms was generated. Incident T2DM was defined by self-report and/or non-fasting glucose levels greater than 11 mmol/L and serum glutamic acid decarboxylase antibody level of <0.08 antibody index at the follow-up. Multivariable logistic regression models were applied to calculate adjusted ORs with 95% CIs. Effect modification by family history or PRS was assessed by likelihood ratio test (LRT).ResultsOver 11 years of follow-up, 92 (2.6%) participants developed T2DM. A higher risk of incident T2DM was observed in participants with serum 25(OH)D level of<50 nmol/L compared with those of ≥50 nmol/L (OR 1.72, 95% CI 1.03 to 2.86). Level of 25(OH)D<50 nmol/L was associated with an increased risk of T2DM in adults without family history of diabetes (OR 3.87, 95% CI 1.62 to 9.24) but not in those with a family history (OR 0.72, 95% CI 0.32 to 1.62, p value for LRT=0.003). There was no effect modification by PRS (p value for LRT>0.23).ConclusionSerum 25(OH)D<50 nmol/L was associated with an increased risk of T2DM in Norwegian adults. The inverse association was modified by family history of diabetes but not by genetic predisposition to T2DM.

Combined Effects of Lung Disease History, Environmental Exposures, and Family History of Lung Cancer to Susceptibility of Lung Cancer in Chinese Non-smokers

2021 ◽  
Author(s):  
Fanglin Yu ◽  
Rendong Xiao ◽  
Xu Li ◽  
Zhijian Hu ◽  
Lin Cai ◽  
...  
Keyword(s):  
Lung Cancer ◽  
Family History ◽  
Environmental Factors ◽  
Lung Disease ◽  
Environmental Exposures ◽  
Collective Effects ◽  
Combined Effects ◽  
Cancer History ◽  
Increased Risk ◽  
History Of

Abstract Background: Although cigarette smoking is a major risk factor for lung cancer, the incidence rate of lung cancer among non-smokers is notable. The etiology and potential mechanism of non-smoker lung cancer are worthy of further research. This study was designed to explore the collective effects of environmental factors and the relationship between environmental exposure index (EEI) and lung cancer among non-smokers by evaluating the joint effects among lung disease history, environmental factors, and family history of lung cancer without smoking confounders.Methods: A total of 767 never-smoked lung cancer cases and 767 sex- and age-matched controls were selected from the department of Thoracic Surgery and Respiratory Medicine of three hospitals in Fujian, China. We used two methods to develop the EEI according to 12 statistically significant environmental risk factors. Restricted cubic spline (RCS) was applied to analyze the non-linear relationship between EEI and lung cancer in non-smokers. Combined effects, additive interaction, and multiplicative interaction were assessed among lung disease history, EEI, and family history of lung cancer to estimate susceptibility to develop lung cancer.Results: Lung disease history, especially asthma, was significantly associated with an increased risk of lung cancer with an odds ratio (OR) for asthma history of 14.720 (95% CI: 1.877–115.449). Family history of lung cancer was related to susceptibility of lung cancer (OR = 3.347, 95% CI: 1.930–5.806). According to type of relatives and cancer, a parental or children’s history and a sibling’s history of lung cancer were significantly associated with an increased risk of lung cancer. The positive association between EEI and lung cancer was apparently stronger in those with lung disease history or family lung cancer history. Furthermore, there was a addictive interaction between EEI and lung disease history, and a possibly addictive interaction between EEI and family lung cancer history on development of lung cancer.Conclusions: There were combined effects among lung disease history, environmental exposures, and family history of lung cancer toward susceptibility to lung cancer in Chinese non-smokers. Non-smokers who had a family history of lung cancer were at higher risk of lung cancer than non-smokers who had lung disease history. Non-smokers with family cancer history may obtain benefits from removal of environmental exposures and active treatment of lung disease.

scholarly journals Comparison of Maternal and Fetal Outcomes in Parturients With and Without a Diagnosis of Gestational Diabetes

2019 ◽  
Vol 41 (11) ◽  
pp. 647-653 ◽  
Author(s):  
Inês Carolina Siqueira Freitas ◽  
Micheli Cristiane Hintz ◽  
Larissa Chaiane Orth ◽  
Tamara Gonçalves da Rosa ◽  
Betine Moehlecke Iser ◽  
...  
Keyword(s):  
Family History ◽  
Gestational Diabetes ◽  
Statistical Significance ◽  
Positive Family History ◽  
Previous History ◽  
Diabetes Diagnosis ◽  
Fetal Outcomes ◽  
Family History Of Diabetes ◽  
Significant Difference ◽  
History Of

Abstract Objective The present study aims to compare the maternal and fetal outcomes of parturients with and without a gestational diabetes diagnosis. Methods A case-control study including parturients with (cases) and without (control) a gestational diabetes diagnosis, who delivered at a teaching hospital in Southern Brazil, between May and August 2018. Primary and secondary data were used. Bivariate analysis and a backward conditional multivariate logistic regression were used to make comparisons between cases and controls, which were expressed by odds ratio (OR), with a 95% confidence interval (95%CI) and a statistical significance level of 5%. Results The cases (n = 47) were more likely to be 35 years old or older compared with the controls (n = 93) (p < 0.001). The cases had 2.56 times greater chance of being overweight (p = 0.014), and a 2.57 times greater chance of having a positive family history of diabetes mellitus (p = 0.01). There was no significant difference regarding weight gain, presence of a previous history of gestational diabetes, height, or delivery route. The mean weight at birth was significantly higher in the infants of mothers diagnosed with diabetes (p = 0.01). There was a 4.7 times greater chance of macrosomia (p < 0.001) and a 5.4 times greater chance of neonatal hypoglycemia (p = 0.01) in the infants of mothers with gestational diabetes. Conclusion Therefore, maternal age, family history of type 2 diabetes, obesity and pregestational overweightness are important associated factors for a higher chance of developing gestational diabetes.

scholarly journals Analytical epidemiology of multiple sclerosis in the Republic of Kabardino-Balkaria

2021 ◽  
Vol 13 (1S) ◽  
pp. 10-14
Author(s):  
L. B. Tlapshokova ◽  
A. R. Zikhova
Keyword(s):  
Risk Factors ◽  
Multiple Sclerosis ◽  
Environmental Factors ◽  
Scarlet Fever ◽  
Disease Onset ◽  
Clinical Manifestations ◽  
Control Group ◽  
Place Of Residence ◽  
History Of ◽  
The Republic

Multiple sclerosis (MS) is a common autoimmune disease, which etiology includes a complex of genetic and environmental factors. Data suggests that their interaction can influence the age of the clinical manifestations and the course of the disease. Therefore, the study of risk factors of MS in regions with different ethnic compositions of the population and climatic and geographical characteristics is of considerable interest.Objective: to study MS risk factors prevalence in the Republic of Kabardino-Balkaria (RKB).Patients and methods. This case-control study of the representation of risk factors included a cohort of 112 MS patients living in two regions of the RKB (Nalchik and the Prokhladnensky district). The MS diagnosis was established with the McDonald criteria (2017). MS risk factors were assessed with a unified questionnaire. 112 respondents (matched by the main demographic characteristics and place of residence) were included in the control group.Results and discussion. MS patients from the Prokhladnensky district were significantly more likely to contact harmful chemical compounds, had higher consumption of smoked meat products; and suffered from viral infections more often (all differences were significant, p<0.05). More patients with MS, regardless of their place of residence, had a history of scarlet fever than the controls (n=23; 19.5% and n=14; 13.4%, ratio indicator 0.43 (95% CI 0.32–1.01), p=0.041), and the maximum significance of this factor was found in patients who suffered from scarlet fever after the age of 15 years (n=7; 6.3% and n=1; 0.9%, ratio indicator 2.45 (95% CI 1.92–3.21), p=0.041). More patients with MS had a history of chickenpox (n=70; 62.5% and n=55; 41.1%; ratio indicator 0.78 (95% CI 0.65–0.94, p=0.032), the frequency of this factor was most significant in early (up to 7 years) disease onset. Regardless of the place of residence, patients with MS were more likely to suffer from tonsillitis and sinusitis in childhood (p=0.032).Conclusion. In the RKB, as in other regions of the Russian Federation, the risk of MS, along with a genetic predisposition, is primarily determined by environmental factors, such as contact with potentially harmful chemicals, history of somatic diseases, characteristics of the ecological situation, etc. Therefore, MS risk is higher in people exposed to these factors before the age of 7 years and does not depend on the place of residence. 

scholarly journals Major clinical risk factors for seizures in febrile children aged 6 to 60 months.

2020 ◽  
Vol 27 (05) ◽  
pp. 891-894
Author(s):  
Shahid Ishaq ◽  
Ejaz Mazari ◽  
Fazal ur Rehman
Keyword(s):  
Risk Factors ◽  
Family History ◽  
Febrile Seizures ◽  
Study Groups ◽  
Clinical Risk Factors ◽  
P Value ◽  
Chi Square ◽  
Clinical Risk ◽  
Significant Difference ◽  
History Of

Objectives: Febrile seizures (FS) are the most common type of seizures and typically transpire in children with ages from 6 to 60 months. This study was planned to find out major clinical risk factors for seizures in febrile children who were aged 6 to 60 months. A total of 100 febrile children aged 6 to 60. Study Design: Analytical Study. Setting: Department of Neurology, Children’s Hospital and the Institute of Child Health, Multan. Period: From 1st April 2018 to 31st December 2018. Material & Methods: Group A had 40 children with febrile seizures while group B had 60 febrile children but without seizures. Demographic features along with family history of (H/O) epilepsy as well as family history of febrile seizure, types of seizure and infection diseases were noted and analyzed using SPSS version 20. Odds ratio was calculated for various risk factors. Chi square test was applied and P value < 0.05 was considered as significant. Results: Out of a total of 100 children, there were 54 (54.0%) male and 46 (46.0%) female. There was no statistical difference in terms of gender between the two groups (p value = 0.566). Overall, mean age of the children was 26.02 months with standard deviation of 13.4 months. There were 28 (70.0%) children who reported with simple seizures while complex seizures were found in 12 (30.0%) cases. Statistically significant difference (p value = 0.001) was seen in terms of types of infections between the two study groups. When risk of seizures for various risk factors was calculated, family H/O FS, family H/O epilepsy, and upper RTI were as 14, 7 and 3 times respectively and turned out to be the major risk factors for seizures in febrile children. Conclusions: Family H/O FS, family H/O epilepsy and upper RTIs are the major risk factors related with seizures in febrile children. Measures to prevent these risk factors can decrease the burden of FS in our population.

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