Friedreich Ataxia Clinical Outcome Measures

Friedreich ataxia is an autosomal recessive neurodegenerative disorder characterized by ataxia, dysarthria, and areflexia. The authors report the progress of a large international noninterventional cohort (n = 410), tracking the natural history of disease progression using the neurologic examination-based Friedreich Ataxia Rating Scale. The authors analyzed the rate of progression with cross-sectional analysis and longitudinal analysis over a 2-year period. The Friedreich Ataxia Rating Scale captured disease progression when used at 1 and 2 years following initial evaluation, with a lower ratio of standard deviation of change to mean change over 2 years of evaluation. However, modeling of disease progression identified substantial ceiling effects in the Friedreich Ataxia Rating Scale, suggesting this measure is most useful in subjects before maximal deficit is approached.

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Reported Neighborhood Traffic and the Odds of Asthma/Asthma-Like Symptoms: A Cross-Sectional Analysis of a Multi-Racial Cohort of Children

International Journal of Environmental Research and Public Health ◽

10.3390/ijerph18010243 ◽

2020 ◽

Vol 18 (1) ◽

pp. 243

Author(s):

Sarah Commodore ◽

Pamela L. Ferguson ◽

Brian Neelon ◽

Roger Newman ◽

William Grobman ◽

...

Keyword(s):

Maternal Education ◽

Ethnic Disparities ◽

Traffic Density ◽

Public Parks ◽

Cross Sectional ◽

Public Health Burden ◽

Child Health Outcomes ◽

History Of ◽

Study Participants ◽

Sectional Analysis

Asthma in children poses a significant clinical and public health burden. We examined the association between reported neighborhood traffic (a proxy for traffic-related air pollution) and asthma among 855 multi-racial children aged 4–8 years old who participated in the Environmental Influences on Child Health Outcomes (ECHO) cohort. We hypothesized that high neighborhood traffic density would be associated with the prevalence of asthma. Asthma/asthma-like symptoms (defined as current and/or past physician diagnosed asthma, past wheezing, or nighttime cough or wheezing in the past 12 months) was assessed by parental report. The relationship between neighborhood traffic and asthma/asthma-like symptoms was assessed using logistic regression. The prevalence of asthma/asthma-like symptoms among study participants was 23%, and 15% had high neighborhood traffic. Children with significant neighborhood traffic had a higher odds of having asthma/asthma-like symptoms than children without neighborhood traffic [adjusted OR = 2.01 (95% CI: 1.12, 3.62)] after controlling for child’s race-ethnicity, age, sex, maternal education, family history of asthma, play equipment in the home environment, public parks, obesity and prescribed asthma medication. Further characterization of neighborhood traffic is needed since many children live near high traffic zones and significant racial/ethnic disparities exist.

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Natural history of fibrodysplasia ossificans progressiva: cross-sectional analysis of annotated baseline phenotypes

Orphanet Journal of Rare Diseases ◽

10.1186/s13023-019-1068-7 ◽

2019 ◽

Vol 14 (1) ◽

Cited By ~ 6

Author(s):

Robert J. Pignolo ◽

Geneviève Baujat ◽

Matthew A. Brown ◽

Carmen De Cunto ◽

Maja Di Rocco ◽

...

Keyword(s):

Natural History ◽

Fibrodysplasia Ossificans Progressiva ◽

Cross Sectional ◽

Cross Sectional Analysis ◽

History Of ◽

Sectional Analysis

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Do Black Lives Matter in the American Public’s Mitigation Responses to the Covid-19 Pandemic? A Cross-Sectional Analysis of Mask Wearing and Racial/ethnic Disparities in Deaths from COVID-19 in the United States

10.21203/rs.3.rs-445021/v1 ◽

2021 ◽

Author(s):

Berkeley Franz ◽

Adrienne Milner ◽

Jomills H. Braddock

Keyword(s):

Public Health ◽

Residential Segregation ◽

Ethnic Disparities ◽

The United States ◽

Ethnic Composition ◽

Cross Sectional ◽

Public Health Challenges ◽

History Of ◽

Sectional Analysis ◽

Racial Ethnic

Abstract Background: Anti-black and anti-Hispanic attitudes in the U.S. must be included in efforts to understand resistance to public health measures, such as mask wearing, during the COVID-19 pandemic. Focusing on the structural and individual context of racism will enable us to improve public health and better prepare for future public health challenges. The purpose of this study was to determine the relationship between mask usage, racial segregation, and racial disparities in COVID-19 deaths.Methods: We used linear regression to assess whether the racial/ethnic composition of deaths and residential segregation predicted Americans’ decisions to wear masks in July 2020. Results: After controlling for mask mandates, mask usage increased when the White death rates relative to Black and Hispanic rates increased. Conclusions: Mask wearing may be shaped by an insensitivity to Black and Hispanic deaths and a corresponding unwillingness to engage in health protective behaviors. The broader history of systemic racism and residential segregation may also explain why white Americans do not wear masks or perceive themselves to be at risk when communities of color are disproportionately affected by COVID-19.

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Seroprevalence of varicella antibodies in adults without clinical history of disease

Cadernos de Saúde Pública ◽

10.1590/0102-311x00149119 ◽

2020 ◽

Vol 36 (1) ◽

Author(s):

Konrad Silva Büchele ◽

Danusa Ferreira Correa ◽

Mari Tuyama ◽

Alberto dos Santos de Lemos ◽

Marcellus Dias da Costa ◽

...

Keyword(s):

Travel Medicine ◽

Clinical History ◽

Cross Sectional Study ◽

Older Individuals ◽

Cross Sectional ◽

Varicella Zoster ◽

History Of Disease ◽

Protective Antibodies ◽

High Positive Predictive Value ◽

History Of

Abstract: Varicella in adults and immunocompromised patients can be severe. The clinical diagnosis of varicella has high accuracy and the history of disease has a high positive predictive value for protection. A significant portion of adults, however, cannot remember if they have had varicella, especially older individuals. We conducted a cross-sectional study to determine the seroprevalence of varicella protective antibodies titers in adults with no clinical history of disease, attended at a Reference Center for Special Immunobiologicals and Travel Medicine in Rio de Janeiro (Brazil). Titration of immunoglobulin G (IgG) antibodies to varicella-zoster was determined by chemiluminescence immunoassay. Among 140 adults without history of varicella, 92% had protective antibody titers. We concluded that seroprevalence of varicella-zoster protection was very high in adults with negative history of disease and the use of serology before vaccination reduced significantly unnecessary vaccine and immunoglobulin use.

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Eating alone at each meal and associated health status by cohabitation situation among Japanese community-dwelling elderly: a cross-sectional analysis of the KAGUYA study

10.21203/rs.3.rs-49187/v1 ◽

2020 ◽

Author(s):

Osamu Kushida ◽

Jong-Seong Moon ◽

Daisuke Matsumoto ◽

Naomi Yamasaki ◽

Katsuhiko Takatori

Keyword(s):

Health Status ◽

Functional Capacity ◽

Health Status Indicators ◽

Subjective Health ◽

Community Dwelling ◽

Care Needs ◽

Cross Sectional ◽

Cross Sectional Analysis ◽

History Of ◽

Sectional Analysis

Abstract Background: This study investigated the association between eating alone at each meal and health status including functional capacity according to cohabitation situation among Japanese community-dwelling elderly.Methods: This was a cross-sectional analysis of baseline data from the Keeping Active across Generations Uniting the Youth and the Aged (KAGUYA) study in Japan. A self-administered questionnaire was mailed to all 8004 residents aged 65 or older residing in the same Japanese town the participants in March 2016. Eating alone was assessed by first asking whether participants ate three separate meals each day (i.e., breakfast, lunch, and dinner), and those who answered affirmatively were then asked how many people were usually present at each meal. Health status was assessed in terms of subjective health, medical history, care needs, body mass index, depression, and functional capacity.Results: Data from 3057 respondents were analyzed. Among those living with others, those who reported not being in good subjective health and a history of hypertension were significantly more likely to eat alone at breakfast (odds ratio 1.27; 95% confidence interval 1.01–1.61, and 1.26; 1.06–1.49). Depressive symptoms and many subscales of functional capacity were also significantly associated with eating alone at breakfast, lunch, and dinner (P < 0.05). Among those living alone, those eating alone at breakfast had lower scores for indicators of functional capacity including information practice (P = 0.010) and total scores (P = 0.049).Conclusions: For both cohabitation situations, many health status indicators were related to eating alone at each meal, especially breakfast.

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Omaveloxolone: potential new agent for Friedreich ataxia

Neurodegenerative Disease Management ◽

10.2217/nmt-2020-0057 ◽

2021 ◽

Author(s):

David R Lynch ◽

Joseph Johnson

Keyword(s):

Clinical Trials ◽

Transcription Factor ◽

Hearing Loss ◽

Disease Progression ◽

Cause Of Death ◽

Neurodegenerative Disorder ◽

Friedreich Ataxia ◽

Novel Therapy

Friedreich ataxia is a slowly progressive neurodegenerative disorder leading to ataxia, dyscoordination, dysarthria and in many individuals vision and hearing loss. It is associated with cardiomyopathy, the leading cause of death in Friedreich ataxia (FRDA), diabetes and scoliosis. There are no approved therapies, but elucidation of the pathophysiology of FRDA suggest that agents that increase the activity of the transcription factor Nrf2 may provide a mechanism for ameliorating disease progression or severity. In this work, we review the evidence for use of omaveloxolone in FRDA from recent clinical trials. Though not at present approved for any indication, the present data suggest that this agent acting though increases in Nrf2 activity may provide a novel therapy for FRDA.

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Self-reported sleepiness and not the apnoea hypopnoea index is the best predictor of sleepiness-related accidents in obstructive sleep apnoea

Scientific Reports ◽

10.1038/s41598-020-72430-8 ◽

2020 ◽

Vol 10 (1) ◽

Author(s):

P. Philip ◽

S. Bailly ◽

M. Benmerad ◽

J. A. Micoulaud-Franchi ◽

Y. Grillet ◽

...

Keyword(s):

Obstructive Sleep Apnoea ◽

Traffic Accidents ◽

Sleep Apnoea ◽

Near Miss ◽

Cross Sectional ◽

Periodic Leg Movements ◽

Obstructive Sleep ◽

History Of ◽

Respiratory Polygraphy ◽

Sectional Analysis

Abstract To evaluate the value of apnoea + hypopnoea index versus self-reported sleepiness at the wheel in anticipating the risk of sleepiness-related accidents in patients referred for obstructive sleep apnoea. A cross-sectional analysis of the French national obstructive sleep apnoea registry. 58,815 subjects referred for a suspicion of obstructive sleep apnoea were investigated by specific items addressing sleepiness at the wheel and sleepiness-related accidents. Apnoea + hypopnoea index was evaluated with a respiratory polygraphy or full polysomnography. Subjects had a median age of 55.6 years [45.3; 64.6], 65% were men, with a median apnoea + hypopnoea index of 22 [8; 39] events/h. Median Epworth sleepiness scale score was 9 [6; 13], 35% of the patients reported sleepiness at the wheel (n = 20,310), 8% (n = 4,588) reported a near-miss accident and 2% (n = 1,313) reported a sleepiness-related accident. Patients reporting sleepiness at the wheel whatever their obstructive sleep apnoea status and severity exhibited a tenfold higher risk of sleepiness-related accidents. In multivariate analysis, other predictors for sleepiness-related accidents were: male gender, ESS, history of previous near-miss accidents, restless leg syndrome/periodic leg movements, complaints of memory dysfunction and nocturnal sweating. Sleep apnoea per se was not an independent contributor. Self-reported sleepiness at the wheel is a better predictor of sleepiness-related traffic accidents than apnoea + hypopnoea index.

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Fetal Echocardiography:Short Term Profile from Shahid Gangalal National Heart Centre, Kathmandu, Nepal

Nepalese Heart Journal ◽

10.3126/njh.v13i1.14538 ◽

2016 ◽

Vol 13 (1) ◽

pp. 9-12

Author(s):

Sudhir Regmi ◽

Deewakar Sharma

Keyword(s):

Pregnant Women ◽

Congenital Heart ◽

Fetal Echocardiography ◽

Tertiary Care ◽

Outcome Data ◽

Cross Sectional ◽

Vitro Fertilization ◽

History Of ◽

Sectional Analysis

Background and Aims: Fetal echocardiography is helpful in early detection of Congenital Heart Disease. Our study was conducted to evaluate the most common indications of referral and outcome in a tertiary-care fetal echocardiography practice.Methods: A Cross-sectional analysis of all pregnant women referred by obstetricians to cardiology unit for fetal echocardiography over a 1-year period (July 2014 and July 2015) was performed. The primary indications for referral for fetal echocardiography were obtained from the obstetric referral forms. Outcome data were extracted from performa containing client’s demographic, physical examination and the fetal echocardiograhic data. Postnatal Echocardiography was advised to all cases having positive echocardiographic finding.Results: A series of 251 fetal cardiac studies were reviewed. Average gestational age was 25.6 weeks (range, 18 to 38 weeks). Thirty-eight (15.1%) pregnant women had abnormal fetal cardiac findings. The most common referral for fetal cardiac scan was related to maternal indications (48.6%). Other indications were abnormal prenatal fetal findings in ultrasonography (23.1%), family history of CHD (12%), general screening (15.5%), and follow up of IVF (In-vitro fertilization) (0.8%). The highest yield of significant abnormal findings was there among patients referred with abnormal prenatal fetal finding in ultrasonography (47%).Conclusion: Majority of referral were for abnormal prenatal ultrasonographic findings. So, fetal Echocardiography is an important part of overall management of the pregnancy at risk for producing an infant with congenital heart disease.Nepalese Heart Journal 2016; 13(1): 9-12

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Cross-sectional analysis of the prevalence and predictors of statin utilisation in Ireland with a focus on primary prevention of cardiovascular disease

BMJ Open ◽

10.1136/bmjopen-2017-018524 ◽

2018 ◽

Vol 8 (2) ◽

pp. e018524 ◽

Cited By ~ 11

Author(s):

Paula Byrne ◽

John Cullinan ◽

Catríona Murphy ◽

Susan M Smith

Keyword(s):

Cardiovascular Disease ◽

Cardiovascular Risk ◽

Primary Prevention ◽

Sociodemographic Factors ◽

Cross Sectional ◽

Factors Associated ◽

History Of ◽

Base Category ◽

Sectional Analysis ◽

Prevention Of Cardiovascular Disease

ObjectiveTo describe the prevalence of statin utilisation by people aged over 50 years in Ireland and the factors associated with the likelihood of using a statin, focusing particularly on those using statins for primary prevention of cardiovascular disease (CVD).MethodsThis is a cross-sectional analysis of cardiovascular risk and sociodemographic factors associated with statin utilisation from wave 1 of The Irish Longitudinal Study on Ageing. A hierarchy of indications for statin utilisation, consisting of eight mutually exclusive levels of CVD-related diagnoses, was created. Participants were assigned one level of indication. The prevalence of statin utilisation was calculated. The likelihood that an individual was using a statin was estimated using a multivariable logistic regression model, controlling for cardiovascular risk and sociodemographic factors.ResultsIn this nationally representative sample (n=5618) of community-dwelling participants aged 50 years and over, 1715 (30.5%) were taking statins. Of these, 65.0% (57.3% of men and 72.7% of women) were doing so for the primary prevention of CVD. Thus, almost two-thirds of those taking statins did so for primary prevention and there was a notable difference between women and men in this regard. We also found that statin utilisation was highest among those with a prior history of CVD and was significantly associated with age (compared with the base category 50–64 years; 65–74 years OR 1.38 (95% CI 1.16 to 1.65); 75+ OR 1.33 (95% CI 1.04 to 1.69)), living with a spouse or partner (compared with the base category living alone; OR 1.35 (95% CI 1.10 to 1.65)), polypharmacy (OR 1.74 (95% CI 1.39 to 2.19)) and frequency of general practitioner visits (compared with the base category 0 visits per year; 1–2 visits OR 2.46 (95% CI 1.80 to 3.35); 3–4 visits OR 3.24 (95% CI 2.34 to 4.47); 5–6 visits OR 2.98 (95% CI 2.08 to 4.26); 7+ visits OR 2.51 (95% CI 1.73 to 3.63)), even after controlling for clinical need. There was no association between using statins and gender, education, income, social class, health insurance status, location or Systematic Coronary Risk Evaluation (SCORE) risk in the multivariable analysis.ConclusionStatin utilisation among those with no history of CVD accounted for almost two-thirds of all statin use, in part reflecting the high proportion of the population with no history of CVD, although utilisation rates were highest among those with a history of CVD.

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