Type I Gaucher Disease and Parkinsonism: Prevalence of Parkinson Disease among Ashkenazi Family Members Who Are Carriers of Gaucher Disease.

Blood ◽  
2005 ◽  
Vol 106 (11) ◽  
pp. 3871-3871
Author(s):  
Hanna Rosenbaum ◽  
Judith Aharon-Peretz ◽  
Ruth Gershoni-Baruch ◽  
Jacob M. Rowe4
Keyword(s):  
Family History ◽  
Parkinson Disease ◽  
Gaucher Disease ◽  
Medical Center ◽  
Family Members ◽  
Carrier State ◽  
High Rate ◽  
Type I ◽  
History Of ◽  
Gba Mutations

Abstract Background: An association between patients suffering from Parkinson Disease (PD) and type I Gaucher disease (GD) was previously described (N Engl J Med, 2004). The goals of the present study were to report the frequency of Parkinson disease among the clinically unaffected family members of Ashkenazi GD patients who are obligate or known glucocerebrosidase (GBA) mutations carriers, and evaluate the clinical course in Type I GD carriers with concomitant manifestations of Parkinson disease (PD). Methods: A cohort of forty three consecutive unrelated Ashkenazi Type I GD patients followed at the hematology department in the Rambam medical center in Haifa, Israel were evaluated for a family history of PD. Results: Among forty-three families of Ashkenazi GD patients twelve had one or more relatives with PD. All these subjects were known obligate or identified as (GBA) mutation carriers for one of the common mutations among the Ashkenazi Jewish population namely N370S, 1604 or 84GG. The age of PD onset among GD family members carriers of GBA mutation ranged from 40 to 67 years with a mean of 53 years. Conclusions: A high rate of relatives with PD was found among GD patient’s families. These results reinforce the association between GD carrier state and PD and suggest that glucocerebrosidase mutations might predispose to PD. PD in family members of Ashkenazi GD patients Age Genotype PD family history Age onset * GF - Grandfather 18 84GG/1604 mother & 2 GF* 50;55 20 84GG/1226 grandfather 50 59 1226/1226 2 uncles 55 31 1226/1226/no sister 46 18 1226/1226 grandmother 65 27 1226/1226 mother 52 18 1226/1226 father & aunt 70 32 1226/1226 2 aunts (identical twins) 55;67 40 1226/1226/no aunt 65 61 1226/1226 mother 40 8 1226/1226 grandfather 70 13 1226/1226 mother & aunt 60;64

scholarly journals High Rate of Obesity-Associated Hypertension among Primary Schoolchildren in Sudan

2011 ◽  
Vol 2011 ◽  
pp. 1-5 ◽  
Author(s):  
Zeena Salman ◽  
Gregory D. Kirk ◽  
Mark D. DeBoer
Keyword(s):  
Family History ◽  
Cross Sectional Study ◽  
Normal Weight ◽  
Overweight And Obesity ◽  
Sub Saharan Africa ◽  
High Rate ◽  
Cross Sectional ◽  
Primary Schoolchildren ◽  
History Of ◽  
Family History Of Hypertension

Cardiovascular disease (CVD) frequently has roots in childhood, including following childhood-onset hypertension. Incidence of CVD has increased in developing countries in East Africa during recent urbanization. Effects of these shifts on childhood hypertension are unclear. Our objectives were to (1) Determine the prevalence of hypertension among primary schoolchildren in Khartoum, Sudan; (2) Determine whether hypertension in this setting is associated with obesity. We performed a cross sectional study of 6-12y children from two schools randomly selected in Khartoum, Sudan. Height, weight, BMI, BP and family history of hypertension were assessed. Age-, height- and gender-specific BP curves were used to determine pre-hypertension (90–95%) and hypertension (>95%). Of 304 children, 45 (14.8%) were overweight; 32 (10.5%) were obese; 15 (4.9%) were pre-hypertensive and 15 (4.9%) were hypertensive. Obesity but not family history of hypertension was associated with current hypertension. In multiple logistic regression, adjusting for family history, children who were obese had a relative-risk of 14.7 (CI 2.45-88.2) for systolic hypertension compared to normal-weight children. We conclude that overweight and obesity are highly prevalent among primary schoolchildren in urban Sudan and are strongly associated with hypertension. That obesity-associated cardiovascular sequelae exist in the developing world at young ages may be a harbinger of future CVD in sub-Saharan Africa.

632 Family History of Children Diagnosed with Obstructive Sleep Apnea

SLEEP ◽  
2021 ◽  
Vol 44 (Supplement_2) ◽  
pp. A248-A248
Author(s):  
Kristi Porterfield-Pruss ◽  
Denise Willis ◽  
Beverly Spray ◽  
Supriya Jambhekar
Keyword(s):  
Family History ◽  
Family Members ◽  
Biological Father ◽  
Medical Problems ◽  
Obstructive Sleep ◽  
Familial Association ◽  
History Of ◽  
The Mean ◽  
Relationship Of ◽  
The Relationship

Abstract Introduction Limited evidence suggests a familial association of OSA. It is not known how often children who require positive airway pressure (PAP) devices have a family member with OSA or that requires PAP. It is felt that PAP adherence in children is affected by PAP adherence in parents. We wanted to explore the relationship of OSA in children requiring PAP to OSA in immediate family members as well as the association of obesity and adherence between children and family members. Methods Caregivers of children who utilize PAP devices at home were invited to complete an electronic questionnaire regarding family history of OSA. Descriptive statistics were utilized to summarize results. Results The study was completed by 75 participants. The majority of children were male (64%, 48/75), black (47%, 35/75) and non-Hispanic (88%, 66/75). The mean age was 11.8 years (median 13) and mean BMI was 32.8 (median 29.8). The mean AHI on the diagnostic polysomnogram was 28.4 events per hour (median 15.3). Mean adherence to PAP > 4 hours per night was 56.5 (Median 68.2). Most, 87% (65/75), have other underlying medical problems. Twenty-four percent (18/75) have a biological father with OSA of whom 61% (11/18) are considered moderately/extremely obese. Of mothers, 13% (10/75) have OSA and 70% (7/10) are obese. Overall, 29% (22/75) had either a paternal (11%, 8/75) or maternal (19%, 14/75) grandfather with OSA of which 36% (8/22) are obese. For grandmothers, 31% (23/75) have OSA and 22% (5/23) are obese with more being paternal (19%, 14/75) compared to maternal (12%, 9/75). Of the 73 total family members reported to have OSA, 86% (63/73) use PAP and most (65%, 41/63) use it for > 4 hours every night. Few participants had siblings with OSA. Conclusion There were more fathers with OSA than mothers, but mothers were reported to be obese more often. Grandparents were reported to have OSA but were reported to be obese less often than parents. Maternal grandparents with OSA were reported to be obese more than paternal grandparents. The majority of family members with OSA who use CPAP report nightly use. Support (if any):

scholarly journals Study of Risk Factors Associated with Suicide Attempt in Patients with Bipolar Disorder Type I

2020 ◽  
Vol 11 (02) ◽  
pp. 291-298
Author(s):  
Karthick Subramanian ◽  
Vikas Menon ◽  
Siddharth Sarkar ◽  
Vigneshvar Chandrasekaran ◽  
Nivedhitha Selvakumar
Keyword(s):  
Risk Factors ◽  
Bipolar Disorder ◽  
Logistic Regression ◽  
Family History ◽  
Suicide Attempt ◽  
Coping Strategies ◽  
Binary Logistic Regression ◽  
Type I ◽  
Factors Associated ◽  
History Of

Abstract Background Suicide is the leading contributor to mortality in bipolar disorder (BD). A history of suicidal attempt is a robust predictive marker for future suicide attempts. Personality profiles and coping strategies are the areas of contemporary research in bipolar suicides apart from clinical and demographic risk factors. However, similar research in developing countries is rarer. Objectives The present study aimed to identify the risk factors associated with suicidal attempts in BD type I (BD-I). Materials and Methods Patients with BD-I currently in clinical remission (N = 102) were recruited. Sociodemographic details and the clinical data were collected using a semistructured pro forma. The psychiatric diagnoses were confirmed using the Mini-International Neuropsychiatric Interview 5.0. The National Institute of Mental Health–Life Chart Methodology Clinician Retrospective Chart was used to chart the illness course. Presumptive Stressful Life Events Scale, Coping Strategies Inventory Short Form, Buss–Perry aggression questionnaire, Past Feelings and Acts of Violence, and Barratt Impulsivity scale were used to assess the patient’s stress scores, coping skills, aggression, violence, and impulsivity, respectively. Statistical Analysis Descriptive statistics were used for demographic details and characteristics of the illness course. Binary logistic regression analyses were performed to identify the predictors for lifetime suicide attempt in BD-I. Results A total of 102 patients (males = 49 and females = 53) with BD-I were included. Thirty-seven subjects (36.3%) had a history of suicide attempt. The illness course in suicide attempters more frequently had an index episode of depression, was encumbered with frequent mood episodes, especially in depression, and had a higher propensity for psychiatric comorbidities. On binary logistic regression analysis, the odds ratios (ORs) for predicting a suicide attempt were highest for positive family history of suicide (OR: 13.65, 95% confidence interval [CI]: 1.28–145.38, p = 0.030), followed by the presence of an index depressive episode (OR: 6.88, 95% CI: 1.70–27.91, p = 0.007), and lower scores on problem-focused disengagement (OR: 0.72, 95% CI: 0.56–0.92, p = 0.009). Conclusion BD-I patients with lifetime suicide attempt differ from non-attempters on various course-related and temperamental factors. However, an index episode depression, family history of suicide, and lower problem-focused engagement can predict lifetime suicide attempt in patients with BD-I.

scholarly journals Risk factors of Parkinson disease

Neurology ◽  
2020 ◽  
Vol 95 (18) ◽  
pp. e2500-e2508 ◽  
Author(s):  
Daniele Belvisi ◽  
Roberta Pellicciari ◽  
Andrea Fabbrini ◽  
Matteo Costanzo ◽  
Sara Pietracupa ◽  
...  
Keyword(s):  
Risk Factors ◽  
Cluster Analysis ◽  
Family History ◽  
Protective Factors ◽  
Parkinson Disease ◽  
Coffee Consumption ◽  
Additive Interaction ◽  
Logistic Regression Models ◽  
Toxic Agents ◽  
History Of

ObjectiveTo perform a simultaneous evaluation of potential risk/protective factors of Parkinson disease (PD) to identify independent risk/protective factors, to assess interaction among factors, and to determine whether identified risk factors predict etiologic subtypes of PD.MethodsWe designed a large case-control study assessing 31 protective/risk factors of PD, including environmental and lifestyle factors, comorbid conditions, and drugs. The study enrolled 694 patients with PD and 640 healthy controls from 6 neurologic centers. Data were analyzed by logistic regression models, additive interaction models, and cluster analysis.ResultsThe simultaneous assessment of 31 putative risk/protective factors of PD showed that only coffee consumption (odds ratio [OR] 0.6; 95% confidence interval [CI] 0.4–0.9), smoking (OR 0.7, 95% CI 0.6–0.9), physical activity (OR 0.8, 95% CI 0.7–0.9), family history of PD (OR 3.2, 95% CI 2.2–4.8), dyspepsia (OR 1.8, 95% CI 1.3–2.4), and exposure to pesticides (OR 2.3, 95% CI1.3–4.2), oils (OR 5.6, 95% CI 2.3–13.7), metals (OR 2.8, 95% CI 1.5–5.4), and general anesthesia (OR 6.1, 95% CI 2.9–12.7) were independently associated with PD. There was no evidence of interaction among risk/protective factors, but cluster analysis identified 4 subtypes with different risk factor profiles. In group 1, all patients had a family history of PD, while dyspepsia or exposure to toxic agents was present in 30% of patients. In groups 2 and 3, a family history of PD was lacking, while exposure to toxic agents (group 2) and dyspepsia (group 3) played major roles. Group 4 consisted of patients with no risk factors.ConclusionsThis study demonstrated that 9 factors independently modify PD risk by coexisting in the same patient rather than interacting with others. Our study suggests the need for future preventive strategies aimed at reducing the coexistence of different risk factors within the same participant.

scholarly journals The value of a family history of sudden death in patients with diagnostic type I Brugada ECG pattern

2011 ◽  
Vol 32 (17) ◽  
pp. 2153-2160 ◽  
Author(s):  
Andrea Sarkozy ◽  
Antonio Sorgente ◽  
Tim Boussy ◽  
Ruben Casado ◽  
Gaetano Paparella ◽  
...  
Keyword(s):  
Family History ◽  
Sudden Death ◽  
Type I ◽  
History Of

Family history of lung cancer in never smokers with non-small cell lung cancer (NSCLC) and its association with tumors harboring epidermal growth factor receptor (EGFR) mutations.

2012 ◽  
Vol 30 (15_suppl) ◽  
pp. 7579-7579
Author(s):  
Elizabeth Mary Gaughan ◽  
Sarah K Cryer ◽  
Beow Yong Yeap ◽  
David Michael Jackman ◽  
Daniel Botelho Costa
Keyword(s):  
Lung Cancer ◽  
Family History ◽  
Medical Center ◽  
Egfr Mutations ◽  
Tumor Type ◽  
Kras Mutations ◽  
Inherited Susceptibility ◽  
History Of ◽  
Never Smokers ◽  
Egfr Mutated

7579 Background: Inherited susceptibility to lung cancer is an understudied subject, however it has been described among never smokers (<100 cigarettes/lifetime). Never smokers with NSCLC comprise an important subgroup of patients enriched for tumors harboring oncogene aberrations in the EGFR and ALK genes. We aimed to better characterize the incidence of family history of lung cancer in the setting of routine tumor genotyping among never smokers with NSCLC. Methods: Clinicopathologic data plus tumor genotype (EGFR, KRAS, ALK) from 230 consecutive never smokers seen at Beth Israel Deaconess Medical Center and Dana-Farber Cancer Institute was compiled. We retrospectively analyzed the incidence of a family history of any cancer and lung cancer in these patients. Results: In our cohort, the average age was 56 years, 67% of the patients were women, 75% were white, 41% had advanced NSCLC and 87% had adenocarcinoma histology. In these tumors, 98/230 (43%) had an EGFR mutation, 16/155 (10%) had KRAS mutations and 27/127 (17%) had an ALK translocation. Family history of any cancer was common (57%) and specific family history of lung cancer was present in 42/230 cases (18%). Out of thecases with a family history of any cancer, 22/53 (41.5%) EGFR-mutated, 1/6 (17%) KRAS-mutated and 3/20 (15%) ALK-translocated cohorts had a family history of lung cancer. The rate of family history of lung cancer to family history of cancer was significantly higher in the EGFR-mutated cohort when compared to the ALK translocated plus KRAS-mutated cohorts (p=0.023). Conclusions: Family history of lung cancer is common in never smokers with NSCLC, and there seems to be a particular link in families in which the proband has an EGFR-mutated tumor. Further study of families with EGFR-mutated NSCLC may yield insights into the pathogenesis of this tumor type.

Sign in / Sign up

Export Citation Format

Share Document