scholarly journals Determining the incidence of familiality in ALS

2018 ◽  
Vol 4 (3) ◽  
pp. e239 ◽  
Author(s):  
Marie Ryan ◽  
Mark Heverin ◽  
Mark A. Doherty ◽  
Nicola Davis ◽  
Emma M. Corr ◽  
...  
Keyword(s):  
Amyotrophic Lateral Sclerosis ◽  
Incidence Rate ◽  
Temporal Trends ◽  
Population Based ◽  
Incidence Rates ◽  
True Rate ◽  
Cross Sectional ◽  
Sporadic Als ◽  
The Mean ◽  
Lateral Sclerosis

ObjectiveTo assess temporal trends in familial amyotrophic lateral sclerosis (FALS) incidence rates in an Irish population and to determine factors influencing FALS ascertainment.MethodsPopulation-based data collected over 23 years, using the Irish amyotrophic lateral sclerosis (ALS) register and DNA biobank, were analyzed and age-standardized rates of FALS and associated familial neuropsychiatric endophenotypes were identified.ResultsBetween 1994 and 2016, 269 patients with a family history of ALS from 197 unique families were included on the register. Using stringent diagnostic criteria for FALS, the mean age-standardized FALS incidence rate for the study period was 11.1% (95% confidence interval [CI], 8.8–13.4). The FALS incidence rate increased steadily from 5.2% in 1994 to 19.1% in 2016, an annual increase of 0.7% (95% CI, 0.5–0.9, p < 0.0001). Inclusion of the presence of neuropsychiatric endophenotypes within kindreds increased the FALS incidence rate to 30%. The incidence of FALS in newly diagnosed individuals from known families increased significantly with time, accounting for 50% of all FALS diagnoses by 2016. The mean annual rate of recategorization from “sporadic ALS” to “FALS” was 3% (95% CI, 2.6–3.8).ConclusionsThe true population-based rate of FALS is at least 20%. Inclusion of extended endophenotypes within kindreds increases the rate of FALS to 30%. Cross-sectional analysis of clinic-based cohorts and stringent definitions of FALS underestimate the true rate of familial disease. This has implications for genetic counseling and in the recognition of presymptomatic stages of ALS.

scholarly journals The Incidence of Amyotrophic Lateral Sclerosis in Ohio 2016–2018: The Ohio Population-Based ALS Registry

2021 ◽  
pp. 1-10
Author(s):  
Angeline S. Andrew ◽  
Erik P. Pioro ◽  
Meifang Li ◽  
Xun Shi ◽  
Jiang Gui ◽  
...  
Keyword(s):  
Amyotrophic Lateral Sclerosis ◽  
Rural Areas ◽  
Clinical Information ◽  
Population Based ◽  
Incidence Rates ◽  
The State ◽  
Newly Diagnosed ◽  
Disease Etiology ◽  
Als Patients ◽  
Lateral Sclerosis

<b><i>Introduction:</i></b> Amyotrophic lateral sclerosis (ALS) is a fatal, neuromuscular disease with no cure. ALS incidence rates have not been assessed specifically in Ohio, yet the state contains both metropolitan and rural areas with a variety of environmental factors that could contribute to disease etiology. We report the incidence of ALS in Ohio residents diagnosed from October 2016 through September 2018. <b><i>Methods:</i></b> We engaged practitioners from 9 Ohio sites to identify newly diagnosed ALS patients and to complete case report forms with demographic and clinical information. ALS was diagnosed according to the Awaji criteria and classified as either definite, probable, or possible. We developed a method to estimate missing cases using a Poisson regression model to impute cases in counties with evidence of undercounting. <b><i>Results:</i></b> We identified 333 newly diagnosed ALS patients residing in Ohio during the 2-year index period and found incidence rates varied in the 88 state counties. After incorporating the estimated 27% of missing cases, the corrected crude annual incidence was 1.96/100,000 person-years, and the age- and gender-standardized incidence was 1.71/100,000 person-years (standardized to the 2010 US census). <b><i>Discussion/Conclusion:</i></b> The estimated Ohio incidence of ALS is overall similar to that reported in other states in the USA. This study reveals a geospatial variation in incidence within the state, and areas with higher rates warrant future investigation.

scholarly journals Incidence of inflammatory bowel disease by race and ethnicity in a population-based inception cohort from 1970 through 2010

2019 ◽  
Vol 12 ◽  
pp. 175628481982769 ◽  
Author(s):  
Satimai Aniwan ◽  
W. Scott Harmsen ◽  
William J. Tremaine ◽  
Edward V. Loftus
Keyword(s):  
Inflammatory Bowel Disease ◽  
Incidence Rate ◽  
Bowel Disease ◽  
Race And Ethnicity ◽  
Poisson Regression ◽  
Temporal Trends ◽  
Population Based ◽  
Incidence Rates ◽  
Annual Incidence Rate ◽  
Inflammatory Bowel

Background: Although inflammatory bowel disease (IBD) has been more predominant in white populations, an increasing incidence of IBD in nonwhites has been reported. We sought to evaluate the incidence rates and temporal trends of IBD by race and ethnicity. Methods: The resources of the Rochester Epidemiologic Project were used to identify 814 county residents newly diagnosed with IBD from 1970 through 2010. Race was categorized into whites and nonwhites. Ethnicity was categorized into Hispanic and non-Hispanic. Incidence rates were estimated and adjusted for age and sex to the 2010 United States (US) population. Trends in incidence rates were evaluated by Poisson regression. Results: The adjusted annual incidence rate of IBD for whites was 21.6 cases per 100,000 person-years [95% confidence interval (CI), 20.0–23.1] and for nonwhites it was 13 per 100,000 (95% CI, 8.3–17.5). The incidence rates for whites and nonwhites increased by 39% and 134%, respectively, from 1970 through 2010. The adjusted annual incidence rate of IBD for Hispanics was 15 cases per 100,000 person-years (95% CI, 6.3–23.6) and for non-Hispanics was 20 per 100,000 (95% CI, 18.5–21.6). The incidence rate for Hispanics decreased by 56%, while the rate for non-Hispanics increased by 33%, from 1985 through 2010. In a Poisson regression, white race ( p < 0.0001), a later year of diagnosis ( p < 0.001), male sex ( p < 0.001) and younger age ( p = 0.009) were significantly associated with a higher incidence rate of IBD. Conclusions: There were significant racial and ethnic differences in the incidence and temporal trends of IBD over the last four decades in this US population-based cohort.

The Use of Antidepressant Medication before and after the Diagnosis of Amyotrophic Lateral Sclerosis: A Population-Based Cohort Study

2015 ◽  
Vol 44 (2) ◽  
pp. 91-98 ◽  
Author(s):  
Federica Edith Pisa ◽  
Giancarlo Logroscino ◽  
Anica Casetta ◽  
Laura Cecotti ◽  
Lorenzo Verriello ◽  
...  
Keyword(s):  
Amyotrophic Lateral Sclerosis ◽  
Cohort Study ◽  
Repeated Measures ◽  
Cox Regression ◽  
Antidepressant Medication ◽  
Population Based ◽  
Multiple Sources ◽  
Cross Sectional ◽  
Multivariate Proportional Hazard ◽  
Lateral Sclerosis

Background: The prevalent use of antidepressants (ATDs) in patients with Amyotrophic Lateral Sclerosis (ALS) varies across cross-sectional and clinic-based published studies. This population-based cohort study assesses the real-world prevalence of the use of ATDs, its trajectory and the association of incident use with clinical characteristics. Methods: All patients with incident ALS in the Friuli Venezia Giulia region, Italy, from 2002 to 2009, were identified through multiple sources including health databases. Diagnosis was validated through clinical documentation review. ATDs prescriptions from 2000 to 2011 were obtained from regional database. The trajectory was estimated through generalized estimating equations for repeated measures logistic regression and the Hazard ratio (HR) of initiating ATDs through multivariate proportional hazard Cox regression. Results: In this cohort of 261 ALS cases, age-, sex-adjusted prevalence of the use of ATDs was 37.3%, higher than in general population. The trajectory increased by 16% in 1-year period across diagnosis. Age ≤67 years at diagnosis (HR 1.28, 95% CI 0.84-1.95) and bulbar onset (1.43, 95% CI 0.90-2.26) were positively associated with initiating ATDs after diagnosis. Conclusions: More than one-third of patients used ATDs. Depression may occur more frequently than previously reported. Depression may precede motor alterations and be related to both ALS diagnosis and progression.

scholarly journals Time trends in incidence and prevalence of chronic pancreatitis: A 25-year population-based nationwide study

2020 ◽  
pp. 205064062096651
Author(s):  
Søren S Olesen ◽  
Laust H Mortensen ◽  
Elisabeth Zinck ◽  
Ulrik Becker ◽  
Asbjørn M Drewes ◽  
...  
Keyword(s):  
Chronic Pancreatitis ◽  
Incidence Rate ◽  
Management Strategies ◽  
Population Based ◽  
Incidence Rates ◽  
Danish Population ◽  
Prevalence Estimates ◽  
The Mean ◽  
And Gender ◽  
Observation Period

Background Updated population-based estimates on incidence and prevalence of chronic pancreatitis are scarce. Methods We used nationwide healthcare registries to identify all Danish patients diagnosed with chronic pancreatitis and computed crude and standardised incidence rates and prevalence estimates in 1994–2018. Incidence and prevalence were evaluated in relation to patients age and gender, aetiology (alcoholic vs non-alcoholic) and smoking and alcohol consumption in the general Danish population. Results The mean incidence rate of chronic pancreatitis during the study period was 12.6 per 100,000 person years for the total population, for women it was 8.6 per 100,000 person years and for men it was 16.7 per 100,000 person years. The standardised incidence rate was stable from from 1994 through 2018, remaining at 12.5 per 100,000 person years in the last observation period (2014–2018). The point prevalence of chronic pancreatitis in 2016 was 153.9 per 100,000 persons. A gradual increase in standardised prevalence estimates was observed during the study period from 126.6 in 1996 to 153.9 in 2016. The mean age at chronic pancreatitis diagnosis increased from 52.1 to 60.0 years during the study period. Conclusion The prevalence of chronic pancreatitis is increasing in the Danish population despite a stable incidence level. Improved management strategies and changes in the underlying patient population may explain these observations.

scholarly journals Extrapyramidal and cognitive signs in amyotrophic lateral sclerosis: A population based cross-sectional study

2015 ◽  
Vol 16 (5-6) ◽  
pp. 324-330 ◽  
Author(s):  
Elisabetta Pupillo ◽  
Elisa Bianchi ◽  
Paolo Messina ◽  
Luca Chiveri ◽  
Christian Lunetta ◽  
...  
Keyword(s):  
Amyotrophic Lateral Sclerosis ◽  
Population Based ◽  
Cross Sectional Study ◽  
Sectional Study ◽  
Cross Sectional ◽  
Lateral Sclerosis

PERIODONTAL DISEASE STATUS, KNOWLEDGE, ATTITUDE, PRACTICE AND TREATMENT NEEDS OF PREGNANT WOMEN

2018 ◽  
Vol 8 (6) ◽  
pp. 138-144
Author(s):  
Thien Nguyen Duc ◽  
Tai Tran Tan
Keyword(s):  
Periodontal Disease ◽  
Pregnant Women ◽  
Oral Hygiene ◽  
Disease Status ◽  
Incidence Rates ◽  
Gestation Period ◽  
Treatment Needs ◽  
Cross Sectional ◽  
Mean Values ◽  
The Mean

Background: Periodontal disease is a prominent and important issue of public health, especially in pregnant women. The objective of this study is to describe the clinical characteristics; learn knowledge, attitudes, practice oral hygiene and assess the need for treatment of periodontal disease in pregnant women. Subjects and Methods: A cross-sectional study of 210 pregnant women who visited the Department of Obstetrics and Gynecology at the Hue University of Medicine and Pharmacy Hospital. Clinical examination and interview questions on knowledge, attitudes and practice of oral care for all subjects. Results: The incidence of gingivitis was 100%, with mild gingivitis of 4,3% and moderate gingivitis of 95.7%. There was a difference in incidence rates of gingivitis in the gestational period (p<0.001). The incidence of periodontitis is 17.6% and there is no difference in gestational age (p>0.05). The mean values of GI and BOP indices differed by gestation period (p<0.05) and PD, OHI-S, PlI have statistically significant relationship with gestation period (p>0.05). The incidence of periodontal disease is 80.5%; The percentage of pregnant women who abstain from brushing their teeth after birth is 61.4%. Prevalence of brushing once a day: 7.1%; Twice a day: 70.5% and 3 times daily: 22.4%; The mean values of GI, PD, BOP, OHI-S and PlI were inversely proportional to the number of brushing (p<0.001). The rate of dental hygiene is just 3.3%; The rate of oral hygiene, dental plaque and plaque removal was 94,3%; The proportion of subjects required for intensive treatment is 2.4%. Conclusion: Periodontal disease, especially for pregnant women, is high. It is necessary to educate the knowledge, attitudes and practice of proper oral hygiene and to better meet the demand for periodontal disease treatment for pregnant women. Key words: Periodontal disease, pregnant women, knowledge, attitude, practice for oral hygiene, treatment needs

Nationwide trends in the incidence of orbital lymphoma from 1999 to 2016 in South Korea

2020 ◽  
pp. bjophthalmol-2020-316796
Author(s):  
Su Kyung Jung ◽  
Jiwon Lim ◽  
Suk Woo Yang ◽  
Young-Joo Won
Keyword(s):  
South Korea ◽  
B Cell ◽  
Incidence Rate ◽  
Cell Lymphoma ◽  
Survival Rates ◽  
B Cell Lymphoma ◽  
Population Based ◽  
Incidence Rates ◽  
Annual Percent Change ◽  
Orbital Lymphoma

Background/AimsLymphomas are the most frequent neoplasm of the orbit. However, the epidemiology of orbital lymphomas is not well reported. This study aimed to provide a population-based report on the epidemiology of orbital lymphomas and measure the trends in the incidence of orbital lymphoma cancer in South Korea.MethodsNationwide cancer incidence data from 1999 to 2016 were obtained from the Korea Central Cancer Registry. Age-standardised incidence rates and annual percent changes were calculated according to sex and histological types. The analysis according to the Surveillance, Epidemiology, and End Results summary stage classifications was performed from 2006 to 2016. Survival rates were estimated for cases diagnosed from 1999 to 2016.ResultsA total of 630 patients (median age: 54 years) with orbital lymphoma in the orbital soft tissue were included in this study. The age-standardised incidence rates increased from 0.03 to 0.08 per 100 000 individuals between 1999 and 2016, with an annual percent change of 6.61%. The most common histopathological type of orbital lymphoma was extra marginal zone B cell lymphoma, accounting for 82.2% of all orbital lymphomas during 1999–2016, followed by diffuse large B cell lymphoma (9.2%). Five-year, 10-year and 15-year overall survival (OS) of orbital lymphoma was 90.8%, 83.8% and 75.8%, respectively. OS showed a significant decrease as age increased and no significant differences between men and women.ConclusionThe incidence rate of orbital lymphoma is very low in South Korea. However, the incidence rate has increased over the past years. Orbital lymphomas have a worse prognosis as age increases.

scholarly journals Sterol auto-oxidation adversely affects human motor neuron viability and is a neuropathological feature of amyotrophic lateral sclerosis

2021 ◽  
Vol 11 (1) ◽  
Author(s):  
James C. Dodge ◽  
Jinlong Yu ◽  
S. Pablo Sardi ◽  
Lamya S. Shihabuddin
Keyword(s):  
Amyotrophic Lateral Sclerosis ◽  
Motor Neuron ◽  
Cholesterol Homeostasis ◽  
Cholesterol Oxidation ◽  
Therapeutic Approaches ◽  
Cellular Survival ◽  
Sporadic Als ◽  
Human Motor ◽  
Als Patients ◽  
Lateral Sclerosis

AbstractAberrant cholesterol homeostasis is implicated in the pathogenesis of amyotrophic lateral sclerosis (ALS), a fatal neuromuscular disease that is due to motor neuron (MN) death. Cellular toxicity from excess cholesterol is averted when it is enzymatically oxidized to oxysterols and bile acids (BAs) to promote its removal. In contrast, the auto oxidation of excess cholesterol is often detrimental to cellular survival. Although oxidized metabolites of cholesterol are altered in the blood and CSF of ALS patients, it is unknown if increased cholesterol oxidation occurs in the SC during ALS, and if exposure to oxidized cholesterol metabolites affects human MN viability. Here, we show that in the SOD1G93A mouse model of ALS that several oxysterols, BAs and auto oxidized sterols are increased in the lumbar SC, plasma, and feces during disease. Similar changes in cholesterol oxidation were found in the cervical SC of sporadic ALS patients. Notably, auto-oxidized sterols, but not oxysterols and BAs, were toxic to iPSC derived human MNs. Thus, increased cholesterol oxidation is a manifestation of ALS and non-regulated sterol oxidation likely contributes to MN death. Developing therapeutic approaches to restore cholesterol homeostasis in the SC may lead to a treatment for ALS.

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