scholarly journals Family history of FXTAS is associated with age-related cognitive-linguistic decline among mothers with the FMR1 premutation

2022 ◽  
Vol 14 (1) ◽  
Author(s):  
Jessica Klusek ◽  
Amanda Fairchild ◽  
Carly Moser ◽  
Marsha R. Mailick ◽  
Angela John Thurman ◽  
...  
Keyword(s):  
Family History ◽  
Neurodegenerative Disease ◽  
Cognitive Skills ◽  
Fragile X ◽  
Repeat Length ◽  
Syntactic Complexity ◽  
Cgg Repeat ◽  
Age Related ◽  
Increased Risk ◽  
History Of

Abstract Background Women who carry a premutation allele of the FMR1 gene are at increased vulnerability to an array of age-related symptoms and disorders, including age-related decline in select cognitive skills. However, the risk factors for age-related decline are poorly understood, including the potential role of family history and genetic factors. In other forms of pathological aging, early decline in syntactic complexity is observed and predicts the later onset of neurodegenerative disease. To shed light on the earliest signs of degeneration, the present study characterized longitudinal changes in the syntactic complexity of women with the FMR1 premutation across midlife, and associations with family history of fragile X-associated tremor/ataxia syndrome (FXTAS) and CGG repeat length. Methods Forty-five women with the FMR1 premutation aged 35–64 years at study entry participated in 1–5 longitudinal assessments spaced approximately a year apart (130 observations total). All participants were mothers of children with confirmed fragile X syndrome. Language samples were analyzed for syntactic complexity and participants provided information on family history of FXTAS. CGG repeat length was determined via molecular genetic testing. Results Hierarchical linear models indicated that women who reported a family history of FXTAS exhibited faster age-related decline in syntactic complexity than those without a family history, with that difference emerging as the women reached their mid-50 s. CGG repeat length was not a significant predictor of age-related change. Conclusions Results suggest that women with the FMR1 premutation who have a family history of FXTAS may be at increased risk for neurodegenerative disease, as indicated by age-related loss of syntactic complexity. Thus, family history of FXTAS may represent a personalized risk factor for age-related disease. Follow-up study is needed to determine whether syntactic decline is an early indicator of FXTAS specifically, as opposed to being a more general age-related cognitive decline associated with the FMR1 premutation.

A Prospective Study on Hereditary Bias of Age-Related Macular Degeneration

2019 ◽  
Vol 3 (2) ◽  
pp. 90-93
Author(s):  
Rami Gabriel ◽  
Jaime Toledo-Corral ◽  
Maria Cristina Kenney ◽  
Mitul Mehta
Keyword(s):  
Family History ◽  
Macular Degeneration ◽  
Transmitted Disease ◽  
Disease Process ◽  
Age Related Macular Degeneration ◽  
Age Related ◽  
Increased Risk ◽  
History Of ◽  
Dry Amd ◽  
Wet Amd

Purpose: This study employed a prospective survey to evaluate whether maternal family history or paternal family history is more likely to be found in patients with age-related macular degeneration (AMD). Methods: Family history of AMD was ascertained through a survey questionnaire of 346 patients who were confirmed by an ophthalmologist to have AMD. To compare proportions of maternally and paternally transmitted disease, the data were treated as pair matched and analyzed using the modified chi-squared McNemar test. Probands with either parent deceased before age 60 were excluded. Further analysis was conducted by grouping wet-AMD and dry-AMD patients. Results: Of the 346 surveys conducted, 91 (26.3%) reported at least 1 parent affected with AMD. Probands were 65.9% women and 44.1% men. The mean ± SD age for men was 74.3 ± 6.3 years and for women 72.7 ± 7.7 years. The average age of proband fathers was 75.0 ± 6.9 years and of proband mothers 80.1 ± 6.0 years. Probands with AMD had a higher proportion of affected mothers than fathers with an odds ratio (OR) of 3.00 and a 95% CI of 1.73 to 5.44, P = .0001. For wet AMD, the OR was 4.0 (95% CI 1.46 to 13.6) and for dry AMD, the OR was 2.6 (95% CI 1.35 to 5.4). Conclusions: Our results indicate that individuals with maternal history of AMD may be at a significantly increased risk for developing AMD than if their father had the disease. Owing to limitations in sample size and discrepancies in lifespan between sexes, further studies will be needed to generalize results. The maternal proclivity in our study sample correlates with literature describing a mitochondrial component in the disease process, soliciting further exploration into mitochondrial etiology and larger hereditary studies.

scholarly journals Is Low FMR1 CGG Repeat Length in Males Correlated with Family History of BRCA-Associated Cancers? An Exploratory Analysis of Medical Records

2017 ◽  
Vol 26 (6) ◽  
pp. 1401-1410 ◽  
Author(s):  
Hallee C. Adamsheck ◽  
Elizabeth M. Petty ◽  
Jinkuk Hong ◽  
Mei W. Baker ◽  
Murray H. Brilliant ◽  
...  
Keyword(s):  
Family History ◽  
Medical Records ◽  
Exploratory Analysis ◽  
Repeat Length ◽  
Cgg Repeat ◽  
History Of

Family History of Diabetes Is Associated with Increased Risk of Recurrent DKA in Pediatric Patients in Rhode Island

Diabetes ◽  
2018 ◽  
Vol 67 (Supplement 1) ◽  
pp. 1378-P
Author(s):  
JANAKI D. VAKHARIA ◽  
SUNGEETA AGRAWAL ◽  
JANINE BACIC ◽  
LISA S. TOPOR
Keyword(s):  
Family History ◽  
Rhode Island ◽  
Pediatric Patients ◽  
Family History Of Diabetes ◽  
Increased Risk ◽  
History Of

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.

scholarly journals Eculizumab discontinuation in atypical hemolytic uremic syndrome: TMA recurrence risk and renal outcomes

2021 ◽  
Author(s):  
Gema Ariceta ◽  
Fadi Fakhouri ◽  
Lisa Sartz ◽  
Benjamin Miller ◽  
Vasilis Nikolaou ◽  
...  
Keyword(s):  
Family History ◽  
Hemolytic Uremic Syndrome ◽  
Univariate Analysis ◽  
Atypical Hemolytic Uremic Syndrome ◽  
Renal Response ◽  
Pathogenic Variants ◽  
Increased Risk ◽  
History Of ◽  
Uremic Syndrome

ABSTRACT Background Eculizumab modifies the course of disease in patients with atypical hemolytic uremic syndrome (aHUS), but data evaluating whether eculizumab discontinuation is safe are limited. Methods Patients enrolled in the Global aHUS Registry who received ≥1 month of eculizumab before discontinuing, demonstrated hematologic or renal response prior to discontinuation and had ≥6 months of follow-up were analyzed. The primary endpoint was the proportion of patients suffering thrombotic microangiopathy (TMA) recurrence after eculizumab discontinuation. Additional endpoints included: eGFR changes following eculizumab discontinuation to last available follow-up; number of TMA recurrences; time to TMA recurrence; proportion of patients restarting eculizumab; and changes in renal function. Results We analyzed 151 patients with clinically diagnosed aHUS who had evidence of hematologic or renal response to eculizumab, before discontinuing. Thirty-three (22%) experienced a TMA recurrence. Univariate analysis revealed that patients with an increased risk of TMA recurrence after discontinuing eculizumab were those with a history of extrarenal manifestations prior to initiating eculizumab, pathogenic variants, or a family history of aHUS. Multivariate analysis showed an increased risk of TMA recurrence in patients with pathogenic variants and a family history of aHUS. Twelve (8%) patients progressed to end-stage renal disease after eculizumab discontinuation; 7 (5%) patients eventually received a kidney transplant. Forty (27%) patients experienced an extrarenal manifestation of aHUS after eculizumab discontinuation. Conclusions Eculizumab discontinuation in patients with aHUS is not without risk, potentially leading to TMA recurrence and renal failure. A thorough assessment of risk factors prior to the decision to discontinue eculizumab is essential.

CGG repeat length correlates with age of onset of motor signs of the fragile X-associated tremor/ataxia syndrome (FXTAS)

2007 ◽  
Vol 144B (4) ◽  
pp. 566-569 ◽  
Author(s):  
Flora Tassone ◽  
John Adams ◽  
Elizabeth M. Berry-Kravis ◽  
Susannah S. Cohen ◽  
Alfredo Brusco ◽  
...  
Keyword(s):  
Age Of Onset ◽  
Fragile X ◽  
Repeat Length ◽  
Cgg Repeat ◽  
Ataxia Syndrome

Sex Differences in Inmates: Anger, Sensitivity to Provocation and Family History of Imprisonment

2021 ◽  
pp. 0306624X2110491
Author(s):  
Marta Bodecka-Zych ◽  
Anna Zajenkowska ◽  
Mary Bower Russa
Keyword(s):  
Family History ◽  
Comparison Group ◽  
Female Inmates ◽  
Male And Female ◽  
Female Prisoners ◽  
Increased Risk ◽  
Incarcerated Populations ◽  
History Of ◽  
Male Prisoners

Little research has explored the role of aggression, anger, and family history of incarceration as they relate to female offenders. The current study aimed to address this gap in the literature by investigating these possible risk factors for incarceration among both men and women. The survey involved 123 (61 female and 62 male) prisoners convicted for violent crimes and a comparison group of 118 (60 female and 58 male) adults from the community. We found that women (convicted and non-convicted) were more sensitive to provocation than men, while community adults showed higher levels of trait anger than prisoners. Detainees were more likely than community adults to have a relative in prison. Although male and female inmates were equally likely to have a relative in prison, they differed in their relation to the imprisoned relative. Male and female prisoners showed increased risk for incarceration of same sex, first degree relatives (father and brothers for men, and mothers for women). These results may contribute to improved understanding of incarcerated populations. As such, this represents a critical first step in creating recovery programs that are more gender appropriate.

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 Dietary Lutein, Zeaxanthin and Omega-3- Essential Fatty Acid Intake and Risk of Age-Related Macular Degeneration in a Selected Australian Population

2020 ◽  
Vol 4 (Supplement_2) ◽  
pp. 111-111
Author(s):  
Kingsley Kalu ◽  
Angelica Ly ◽  
Charles McMonnies ◽  
Jayashree Arcot
Keyword(s):  
Fatty Acid ◽  
Family History ◽  
Macular Degeneration ◽  
South Asian ◽  
Middle Eastern ◽  
Age Related Macular Degeneration ◽  
Dietary Intakes ◽  
Omega 3 ◽  
Age Related ◽  
History Of

Abstract Objectives The aim of this study was to assess the dietary intakes of lutein, zeaxanthin (L + Z) and omega-3-essential fatty acid(EFA) among a selected population of Australian based adults and to examine the effect of specified risk factors for age-related macular degeneration(AMD) on those levels. Methods A cross-sectional study involving 70 adults aged 19–52 years was carried out. Demographic data were obtained using an online self-administered questionnaire while dietary intakes were estimated using USDA's 24 hours recall questionnaire, the Victorian Cancer Council(Australia) food frequency questionnaire and anthropometric characteristics were obtained using a body composition analyzer. Dietary intakes of lutein, zeaxanthin, omega-3-EFA and anthropometric indices against the risk of AMD were established using descriptive statistics and Spearman correlation. Results The mean age of the population was 29.9 ± 8.1years with 51% men and 49% women. Women had a higher intake of L + Z (1908.6 μg/day versus 1032.8 μg/day) and alpha-linolenic acid(ALA) compared to men(1.7 ± 1.1 g/day versus 1.6 ± 1.2 g/day). Men consumed more omega-3-EFA than women (433 ± 397.1 mg/day versus 365 ± 210.7 mg/day). L + Z levels were higher among people of Middle Eastern and South Asian origin (&gt;4000 μg/day) in the 19–25years age group. People of Middle Eastern, South East Asian and South Asian had the highest intake of omega-3-EFA(&gt;500 mg/day) at ages 19–25, 26–32 and 34–52years respectively. Women aged 34–52years with a family history of AMD had higher levels of L + Z(&gt;2500 μg/day) while women aged 26–32years with a family history of AMD had higher levels of ALA(&gt;3 g/day). Ethnicity and L + Z were correlated (P = −0.456, P &lt; 0.02). Higher levels of intake of L + Z (&gt;4000 μg/day) were seen in participants aged 34–52years with a 5–10years residence in Australia. Participants who had less than 5–10years of residency had higher levels of omega-3-EFA(&gt;500 mg/day) for ages 26–32years while those aged 34–52years who had less than 5years of residency had higher ALA(&gt;4 g/day). Conclusions Intake levels for L + Z vary significantly among participants. Culturally specific dietary habits could feasibly influence the levels of intake of L + Z. Intake levels of omega-3-EFA were met. This study provides detailed intake levels of L + Z and omega-3-EFA for the ‘at-risk’ AMD group. Funding Sources No funding source.

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