scholarly journals Ethnic variation and the relevance of homozygous RNF 213 p.R4810.K variant in the phenotype of Indian Moya moya disease

PLoS ONE ◽  
2020 ◽  
Vol 15 (12) ◽  
pp. e0243925
Author(s):  
Arun K. ◽  
C. M. Shafeeque ◽  
Jayanand B. Sudhir ◽  
Moinak Banerjee ◽  
Sylaja P. N.
Keyword(s):  
Mutant Allele ◽  
Tamil Nadu ◽  
Age Of Onset ◽  
Strong Association ◽  
Positive Family History ◽  
Ring Finger ◽  
Asian Population ◽  
Homozygous Mutation ◽  
Genotypic Frequency ◽  
Moya Moya Disease

Background and purpose Polymorphisms in Ring Finger Protein 213 (RNF 213) gene have been detected to confer genetic susceptibility to Moya moya disease (MMD) in the East Asian population. We investigated the frequency of RNF 213 gene polymorphism and its association with MMD phenotypes in the Indian population. Materials and methods A case-control study for RNF 213 polymorphism involving 65 MMD patients, 75 parents, and 120 controls were performed. A total of 21 SNPs were screened, of which 17 SNPs were monomorphic. Allelic and genotypic frequency of all polymorphic SNPs were assessed and its association with MMD phenotypes was evaluated. Results The median age of symptom onset was 9 (range 2–17) and 37 years (range 20–58) in paediatric and adult patients respectively. A strong association was observed with RNF 213 rs112735431(p.R4810K) and MMD. Out of 65 patients with MMD, five patients carried the homozygous risk AA genotype. None of the healthy controls carried this homozygous mutation. The mutant allele was detected in MMD patients from Tamil Nadu and North eastern states of India (p = <0.0001). All the patients carrying the mutant allele had an early age of onset (p = <0.0001), higher incidence of bilateral disease (p = <0.002), positive family history (p = 0.03), higher Suzuki angiographic stage (≥3) (p<0.0006) and recurrent neurological events (ischemic strokes and TIAs) (p = <0.009). Conclusion The homozygous rs112735431(p.R4810K) variant in RNF 213 variant not only predicts the risk for MMD but can also predict the phenotypic variants.

scholarly journals Prevalence of Psoriasis Vulgaris and Its Associated Risk Factors in Pakistan

2021 ◽  
pp. 390-395
Author(s):  
Syeda Ujala Sohail ◽  
Nasima Iqbal ◽  
Ashok Kumar ◽  
Sarwath Fatimee ◽  
Ayesha Khan ◽  
...  
Keyword(s):  
Risk Factors ◽  
Standard Deviation ◽  
Family History ◽  
Psoriasis Vulgaris ◽  
Age Of Onset ◽  
Strong Association ◽  
Positive Family History ◽  
P Value ◽  
History Of ◽  
Associated Risk Factors

Aim: To find out the prevalence of psoriasis vulgaris and its associated risk factors. Study Design: Descriptive cross-sectional. Place and Duration of Study: Study was conducted at Rawalpindi Leprosy Hospital during January 2019 to December 2019. Methodology: The diagnosed cases of Psoriasis Vulgaris (PsV) were included in the study. All the patients were investigated on the basis of an in depth Performa. The Performa include all the relevant clinical and family history of the patient along with the personal details. Data was analyzed by using Statistical Package for the Social Sciences (SPSS) version 20. All the numerical variables were presented as mean with standard deviation while categorical data as frequency and percentages. The association of risk factors with the Psoriasis was calculated by using the Chi-square test. p-value less than 0.05 was considered as significant. Results: Mean age with standard deviation of patients was 34.7±14. Most of the diagnosed patients were male and below 40 years of age, only 4.2% cases were having positive family history of Psoriasis and found significant correlation. The frequency of onset of symptoms in adolescent was more as compared to childhood i.e. 95.3% and 4.7% respectively. Majority of psoriasis cases (65.3%) were from non-smoker group and having strong association with smoking. The frequency of arthritis among psoriasis patients was 23.7% and majority of the patients, who developed arthritis were those having age <40 year and were suffering from psoriasis since 5-10 years. Conclusion: Current study concluded that Psoriasis vulgar is having higher prevalence rate among male and below 40 years of age group. The results also suggested a strong association of severity of psoriasis with certain risk factors including family history, age of onset of symptoms, smoking and arthritis.

Effect of Marriage on Pre-existing Psychoses: A Convenient or Futile Solution for Severe Mental Disorders?

2020 ◽  
Vol 2 (3-4) ◽  
pp. 273-276
Author(s):  
Prakash B. Behere ◽  
Aniruddh P. Behere ◽  
Debolina Chowdhury ◽  
Amit B. Nagdive ◽  
Richa Yadav
Keyword(s):  
Mental Disorders ◽  
Age Of Onset ◽  
Social Stigma ◽  
Positive Family History ◽  
Mental Illnesses ◽  
Psychotic Symptoms ◽  
Antipsychotic Treatment ◽  
Contractual Relationship ◽  
History Of ◽  
Paranoid Type

Marriage can be defined as the state of being united as spouses in a consensual and contractual relationship recognized by law. The general population generally believes marriage to be a solution to mental illnesses. It can be agreed that mental disorders and marital issues have some relation. Parents of patients with psychoses expect that marriage is the solution to the illness and often approach doctors and seek validation about the success of the marriage of their mentally ill child, which is a guarantee no doctor can give in even normal circumstances. Evidence on sexual functioning in patients of psychosis is limited and needs further understanding. Studies show about 60%–70% women of the schizophrenia spectrum and illness to experience sexual difficulties. Based on available information, sexual dysfunction in population with psychosis can be attributed to a variety of psychosocial factors, ranging from the psychotic symptoms in itself to social stigma and institutionalization and also due to the antipsychotic treatment. Despite the decline in sexual activity and quality of life in general, it is very rarely addressed by both the treating doctor and by the patient themselves hence creating a lacuna in the patient’s care and availability of information regarding the illness’ pathophysiology. Patients become noncompliant with medications due to this undesirable effect and hence it requires to be given more attention during treatment. It was also found that paranoid type of schizophrenia patient had lower chances of separation than patients with other types of schizophrenia. The risk of relapse in cases with later age of onset of the disease, lower education, a positive family history of psychosis or a lower income increased more than other populations.

scholarly journals GENDER-RELATED DIFFERENCES IN CLINICAL COURSE OF CROHN’S DISEASE IN AN ASIAN POPULATION: a retrospective cohort review

2014 ◽  
Vol 51 (2) ◽  
pp. 90-96 ◽  
Author(s):  
Siu-tong LAW ◽  
Kin Kong LI
Keyword(s):  
Crohn’S Disease ◽  
Crohn's Disease ◽  
Immunosuppressive Therapy ◽  
Retrospective Cohort ◽  
Clinical Characteristics ◽  
Positive Family History ◽  
Asian Population ◽  
Smoking History ◽  
Phenotypic Characteristics ◽  
Increased Risk

ContextData from Asian populations about gender-related differences in Crohn’s disease are few.ObjectivesThis study was to analyze the clinical characteristics between women and men affected by Crohn’s disease.MethodsThis was a retrospective cohort study to analyze consecutive Crohn’s disease patients from Jan 2000 to Dec 2012. Clinical and phenotypic characteristics and treatment outcomes were evaluated.Results79 patients (55 male and two of them with positive family history) were diagnosed with Crohn’s disease. Ileocolonic disease and inflammatory lesion was the most dominant site of involvement and disease behavior respectively in both men and women. Apart from higher frequency of nausea (45.83 vs 23.64%, P 0.024) and lower body mass index (19.44 vs 22.03 kg/m2, P 0.003) reported in women, no significant gender-related differences in clinical characteristics were observed. Women were more associated with delay use of immunosuppressive therapy (12 vs 36 months, P = 0.028), particularly for those aged less than 40 years old (85 vs 62.6%,P = 0.023). Cox proportional hazard regression analysis revealed that active smoking (HR, 4.679; 95% CI, 1.03-21.18) and delayed use of immunosuppressive therapy (HR, 4.13; 95% CI, 1.01-16.88) were only independent risk factors associated with increased risk of complications.ConclusionsThere were no significant gender-specific differences in clinical and phenotypic characteristics between male and female Crohn’s disease patients. Smoking history and delay use of immunosuppressive therapy were associated with higher risk of complications.

scholarly journals Genetic analyses of SERPINA5 in Alzheimer’s disease

2021 ◽  
Author(s):  
Billie J. Matchett ◽  
Sarah J. Lincoln ◽  
Matt Baker ◽  
Nikoleta Tamvaka ◽  
Janisse Cabrera-Rodriguez ◽  
...  
Keyword(s):  
Alzheimer’S Disease ◽  
Alzheimer's Disease ◽  
Disease Duration ◽  
Age Of Onset ◽  
Positive Family History ◽  
Neuronal Loss ◽  
Missense Variant ◽  
Brain Regions ◽  
Allelic Frequency ◽  
Genomic Databases

Abstract Alzheimer’s disease (AD) is a progressive neurodegenerative disease that is the most common cause of dementia. Our previous studies have shown that increased expression of the SERPINA5 gene is associated with hippocampal vulnerability in AD, and that the SERPINA5 protein binds to tau and co-localizes within neurofibrillary tangles. To determine if genetic variants in the SERPINA5 gene may be contributing to this phenotype, we sequenced 103 autopsy-confirmed young-onset AD cases with a positive family history of cognitive decline. We observed one individual with a rare missense variant (rs140138746) in the SERPINA5 gene, resulting in an amino acid change (p.E228Q). We screened a further 1170 neuropathologically diagnosed AD cases and identified an additional 5 carriers of this variant, resulting in an allelic frequency of 0.002141 within our AD validation cohort, which was comparable to online genomic databases. Although not significant, SERPINA5 p.E228Q variant carriers were found to be younger at age of onset and age of death than non-carriers. SERPINA5 p.E228Q variant carriers had a longer disease duration than non-carriers, which approached significance. To further elucidate possible neuropathologic contributions of the SERPINA5 p.E228Q variant, we carried out descriptive neuropathologic burden analysis on a variant carrier that was matched to a non-carrier for age, sex, disease duration, Braak tangle stage, TDP-43 positive status, and who possessed an APOE ε4 risk allele. Interestingly, SERPINA5 burden was lower in the SERPINA5 p.E228Q carrier than the non-carrier in 9 corticolimbic brain regions studied, which exaggerated the tau:SERPINA5 immunohistochemical ratio. The SERPINA5 p.E228Q carrier was observed to have more severe neuronal loss in several brain regions compared to the non-carrier. Together, we cautiously interpret these findings to suggest that the SERPINA5 p.E228Q variant may stall tangle maturity and slow AD disease progression, thus prolonging disease duration in these individuals.

scholarly journals Clinical, epidemiological and autoimmune associations in childhood vitiligo in Qatar

2020 ◽  
Vol 6 (2) ◽  
pp. 151
Author(s):  
Haya Al Mannai ◽  
Mohamed Allam ◽  
Hassan Riad
Keyword(s):  
Family History ◽  
Autoimmune Diseases ◽  
Age Of Onset ◽  
Positive Family History ◽  
Thyroid Peroxidase ◽  
Base Line ◽  
Adult Onset ◽  
Prognostic Features ◽  
History Of ◽  
The Mean

<p class="abstract"><strong>Background:</strong> Childhood vitiligo although clinically similar to adult onset vitiligo but it has distinct clinical, epidemiological and prognostic features compared to adult onset vitiligo.</p><p class="abstract"><strong>Methods:</strong> This is a retrospective study that was carried out on 85 pediatric patients up to age of 18 years old with the diagnosis of vitiligo, where the clinical and epidemiological data  including clinical type of vitiligo, family history of autoimmune diseases like thyroid disorders and diabetes mellitus and laboratory results including anti-thyroid peroxidase antibodies (anti-TPO antibodies), anti-parietal cell antibodies, antinuclear antibodies (ANA), Vitamin D and Vitamin B12 were retrieved from the files of these patients.<strong></strong></p><p class="abstract"><strong>Results:</strong> The mean age of the children affected by vitiligo was 10.4 years, the mean age of onset of vitiligo was 5.4 years, 54 (63.5%) percent were girls and 31 (36.5%) were boys. A positive family history of vitiligo was found in 44.7% of the participants, family history of DM was found in 64.7% of patients and family history of thyroid disease was found in 32.9% of the participants. The prevalence of thyroid autoimmunity was found to be in 22.4% of total participants.</p><p class="abstract"><strong>Conclusions:</strong> Childhood vitiligo has distinct clinical features, more common family history for autoimmune diseases and thyroid autoantibodies rather than overt clinical diseases, which raise the necessity to perform a routine initial immunological and thyroid screening in children with vitiligo and to repeat them at annual bases if there were abnormal values at base line or strong family history.</p>

scholarly journals Application of the 2017 McDonald criteria in a Chinese population with clinically isolated syndrome

2020 ◽  
Vol 13 ◽  
pp. 175628641989808
Author(s):  
Yang Zheng* ◽  
Chun-Hong Shen* ◽  
Sa Wang ◽  
Fan Yang ◽  
Meng-Ting Cai ◽  
...  
Keyword(s):  
Multiple Sclerosis ◽  
Diagnostic Performance ◽  
Age Of Onset ◽  
Asian Population ◽  
Tertiary Hospital ◽  
Clinically Isolated Syndrome ◽  
Chinese Patients ◽  
Mcdonald Criteria ◽  
Lower Specificity ◽  
Higher Sensitivity

Background: Diagnostic criteria for multiple sclerosis have evolved over time, with the most recent being the 2017 McDonald criteria. Evidence is lacking regarding the validity of the 2017 McDonald criteria among the Asian population. Therefore, this study aims to evaluate the diagnostic performance of the 2017 McDonald criteria in Chinese patients with clinically isolated syndrome (CIS). Methods: A total of 93 patients with initial findings suggestive of CIS in a tertiary hospital in China from 2012 to 2017 were included in this retrospective study. Baseline and follow-up data were reviewed. Diagnostic performance (sensitivity, specificity, accuracy), was assessed and survival analysis was performed for the 2017 and 2010 McDonald criteria respectively. Results: Among the 93 Chinese patients with CIS, 57 were female (61.3%) and the median (interquartile range) age of onset was 37 (31.3–41.8) years. The 2017 McDonald criteria displayed a higher sensitivity (75.0% versus 14.6%, p < 0.0001), lower specificity (47.1% versus 100.0%, p < 0.05) but an overall higher accuracy (67.7% versus 36.9%, p < 0.0001) when compared with the 2010 iteration. The novel criteria allow for a better detection of MS at baseline (40.8% versus 9.9%, p < 0.0001). Conclusion: The 2017 McDonald criteria had a higher sensitivity but lower specificity than the 2010 iteration. Overall it facilitated an earlier and more accurate diagnosis of multiple sclerosis in Chinese patients with CIS.

scholarly journals Pedigree Analysis of Idiopathic Epilepsy In Children of South Kerala

2012 ◽  
Vol 01 (01) ◽  
pp. 024-029
Author(s):  
Amar Jayanthi. A.
Keyword(s):  
Genetic Factors ◽  
Age Of Onset ◽  
Association Studies ◽  
Positive Family History ◽  
Susceptibility Gene ◽  
Pedigree Analysis ◽  
Idiopathic Epilepsy ◽  
Major Health Problem ◽  
Neurology Clinic ◽  
Mode Of Inheritance

Abstract Background and aims: Epilepsy is a major health problem in infancy and childhood. Genetic factors are implicated in the etiology of epilepsy. A familial susceptibility to seizures have been recognized but the exact mode of inheritance remains unclear. The chief objective was to determine the inheritance pattern and to correlate its prevalence among closer relatives on the basis of sex, degree of relationship and age of onset of the disease. Materials and methods: A pedigree analysis of 100 clinically diagnosed children with idiopathic epilepsy seen between 1994 and 1997 at the Paediatric Neurology Clinic of Government Medical College, Thiruvananthapuram was done. The mode of inheritance was tested according to the genetic hypothesis of segregation analysis. Results: Positive family history was observed in 49% of the probands. A high proportion of probands with an early onset of disease showed involvement of family members and a significant sex predisposition for females was obtained. Relatives of female probands were affected more than those of males. Mothers were found to transmit the disease to offsprings more than the epileptic fathers. Conclusion: The results of pedigree analysis supported the hypothesis of an autosomal multifactorial mode of inheritance, with 86% heritability and a lower threshold for the disease to manifest. The application of modern genetic principles like identification of susceptibility gene to epilepsy, linkage and association studies would advance our understanding of the etiology of seizure disorders. Genetic factors may play a major role in the predisposition of relatives to epilepsy in families of probands with idiopathic epilepsy. The present study may aid in the genetic counselling of parents with epilepsy.

scholarly journals Familial Aggregation in Idiopathic Subglottic Stenosis

2020 ◽  
Vol 163 (5) ◽  
pp. 1011-1017
Author(s):  
Virginia E. Drake ◽  
Alexander Gelbard ◽  
Nara Sobriera ◽  
Elizabeth Wohler ◽  
Lynne L. Berry ◽  
...  
Keyword(s):  
Age Of Onset ◽  
Familial Aggregation ◽  
Tertiary Care ◽  
Positive Family History ◽  
Disease Onset ◽  
Subglottic Stenosis ◽  
Patient Demographics ◽  
The North ◽  
Familial Clustering ◽  
Tertiary Care Centers

Objective To evaluate inheritance patterns and define the familial clustering rate of idiopathic subglottic stenosis (iSGS). Study Design Retrospective observational study. Setting International multicenter collaborative of >30 tertiary care centers. Methods Patients with a clinically confirmed iSGS diagnosis within the North American Airway Collaborative’s iSGS1000 cohort consented between 2014 and 2018 were eligible for enrollment. Patient demographics and disease severity were abstracted from the collaborative’s iSGS longitudinal registry. Pedigrees of affected families were created. Results A total of 810 patients with iSGS were identified. Positive family history for iSGS was reported in 44 patients in 20 families. The rate of familial clustering in iSGS is 2.5%. Mean age of disease onset is 42.6 years. Of the 44 patients with familial aggregation of iSGS, 42 were female and 2 were male; 13 were mother-daughter pairs and 2 were father-daughter pairs. There were 3 sister-sister pairs. There was 1 niece-aunt pair and 2 groups of 3 family members. One pedigree demonstrated 2 affected mother-daughter pairs, with the mothers being first-degree paternal cousins. Inheritance is non-Mendelian, and anticipation is present in 11 of 13 (84%) parent-offspring pairs. The mean age of onset between parents (48.4 years) and offspring (36.1 years) was significantly different ( P = .016). Conclusion This study quantifies the rate of familial clustering of iSGS at 2.5%. Inheritance is non-Mendelian, and disease demonstrates anticipation. These data suggest that there may be a genetic contribution in iSGS.

scholarly journals Association between Cyclothymic Affective Temperament and Age of Onset of Hypertension

2019 ◽  
Vol 2019 ◽  
pp. 1-6 ◽  
Author(s):  
Beáta Körösi ◽  
Milán Vecsey-Nagy ◽  
Márton Kolossváry ◽  
Zsófia Nemcsik-Bencze ◽  
Bálint Szilveszter ◽  
...  
Keyword(s):  
Emotional Reactivity ◽  
Age Of Onset ◽  
Linear Regression Analysis ◽  
Age At Onset ◽  
Positive Family History ◽  
Cross Sectional Study ◽  
Cross Sectional ◽  
Affective Temperaments ◽  
Affective Temperament

Affective temperaments represent a biologically stable core of emotional reactivity and have previously been associated with hypertension and arterial stiffening. The age, when hypertension is initiated, is influenced by different factors, but the role of personality traits in this regard is not clarified yet. Our aim was to study the association between affective temperaments and the age at onset of hypertension. In this cross-sectional study, 353 patients were included. After the evaluation of history, patients completed the Temperament Evaluation of Memphis, Pisa, Paris and San Diego Autoquestionnaire. We used linear regression analysis to identify predictors of the age of onset of hypertension in the whole cohort and in male and female subpopulations. The independent predictors of the age at onset of hypertension were male sex (B = −4.57 (95% CI = −1.40 to −7.74)), smoking (B = −4.31 (−7.41 to −1.22)), and positive family history (B = −6.84 (−10.22 to −3.45)). In women, cyclothymic temperament score was an independent predictor of the initiation of hypertension (B = −0.83 (−1.54 to −0.12)), while this association was absent in men. Besides traditional factors, cyclothymic affective temperament might contribute to the earlier initiation of hypertension in women.

scholarly journals A study of the factors affecting the receding age of onset of menarche in young girls

2018 ◽  
Vol 7 (7) ◽  
pp. 2813
Author(s):  
Noor Dharmarha ◽  
Anuradha Konda
Keyword(s):  
Age Of Onset ◽  
Strong Association ◽  
Simple Random Sampling ◽  
Cross Sectional Study ◽  
Age At Menarche ◽  
P Value ◽  
Cross Sectional ◽  
Factors Associated ◽  
Urban Indian ◽  
Age Of Menarche

Background: Present study highlights that the worldwide trend of declining age at menarche is also seen in urban Indian girls. The aim of the study was to evaluate the age of menarche and to find out the factors associated with the timing of menarche.Methods: The study was an observational cross sectional study. 258 healthy, menstruating, adolescent girls aged 10-16 years, were selected by simple random sampling. Pre-designed structured questionnaires were distributed after taking informed consent. Anthropometric measurements were taken using standard techniques. The average age of menarche was calculated. The association of the age at menarche with the proposed factors was analyzed using chi square test and Pearson’s correlation coefficient. “P value” less than 0.05 was considered as significant.Results: The mean age at menarche was found to be 12.23±1.09 years. The study found a strong association between the respondent’s age at menarche and her sister’s age at menarche (p=0.002). The study also found a strong association between age at menarche and the socioeconomic status (p=0.021). This study however found no association of menarcheal age with factors like birth weight, type of diet, frequency of milk intake, body mass index, waist hip ratio, amount of exercise, unstable environment at home and psychosocial stress.Conclusions: The worldwide trend of declining age at menarche is also seen in urban Indian girls. This trend underlines the importance of investigating the factors associated with it and studying the future implications of a lower age at menarche.

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