I10 Cross-sectional and longitudinal analysis in juvenile huntington disease in italy

2016 ◽  
Vol 87 (Suppl 1) ◽  
pp. A62.2-A62
Author(s):  
Massimo Marano ◽  
Simone Migliore ◽  
Sabrina Maffi ◽  
Federica Consoli ◽  
Ferdinando Squitieri
Keyword(s):  
Longitudinal Analysis ◽  
Huntington Disease ◽  
Cross Sectional ◽  
Juvenile Huntington Disease

scholarly journals Cognitive and behavioral associated changes in manifest Huntington disease: A retrospective cross‐sectional study

2021 ◽  
Author(s):  
Simone Migliore ◽  
Giulia D’Aurizio ◽  
Sabrina Maffi ◽  
Consuelo Ceccarelli ◽  
Giovanni Ristori ◽  
...  
Keyword(s):  
Huntington Disease ◽  
Cross Sectional Study ◽  
Sectional Study ◽  
Cross Sectional

scholarly journals Patients With Extreme Early Onset Juvenile Huntington Disease Can Have Delays in Diagnosis: A Case Report and Literature Review

2021 ◽  
Vol 8 ◽  
pp. 2329048X2110361
Author(s):  
Ashley A. Moeller ◽  
Marcia V. Felker ◽  
Jennifer A. Brault ◽  
Laura C. Duncan ◽  
Rizwan Hamid ◽  
...  
Keyword(s):  
Symptom Onset ◽  
Huntington Disease ◽  
Early Onset ◽  
Trinucleotide Repeat ◽  
Cerebellar Atrophy ◽  
Cag Repeats ◽  
Ataxic Gait ◽  
Repeat Expansions ◽  
Delays In Diagnosis ◽  
Juvenile Huntington Disease

Huntington disease (HD) is caused by a pathologic cytosine-adenine-guanine (CAG) trinucleotide repeat expansion in the HTT gene. Typical adult-onset disease occurs with a minimum of 40 repeats. With more than 60 CAG repeats, patients can have juvenile-onset disease (jHD), with symptom onset by the age of 20 years. We report a case of a boy with extreme early onset, paternally inherited jHD, with symptom onset between 18 and 24 months. He was found to have 250 to 350 CAG repeats, one of the largest repeat expansions published to date. At initial presentation, he had an ataxic gait, truncal titubation, and speech delay. Magnetic resonance imaging showed cerebellar atrophy. Over time, he continued to regress and became nonverbal, wheelchair-bound, gastrostomy-tube dependent, and increasingly rigid. His young age at presentation and the ethical concerns regarding HD testing in minors delayed his diagnosis.

Association between the FINDRISC score and the risk of metabolic syndrome and hepatic steatosis

2020 ◽  
Vol 41 (Supplement_2) ◽  
Author(s):  
D Godoi Bernardes Da Silva ◽  
R Dias Santos ◽  
M Sommer Bittencourt ◽  
J.A.M Carvalho ◽  
M Franken ◽  
...  
Keyword(s):  
Metabolic Syndrome ◽  
Hepatic Steatosis ◽  
Longitudinal Analysis ◽  
Metabolic Diseases ◽  
Low Cost ◽  
Cross Sectional ◽  
Predictive Values ◽  
Cross Sectional Analysis ◽  
The Cross ◽  
Sectional Analysis

Abstract Introduction The Finnish Diabetes Risk Score (FINDRISC) was developed in Europe to predict type 2 diabetes mellitus (T2DM) risk without need of laboratory tests. Small cross-sectional studies analyzed the association between RF with metabolic syndrome (MS) or hepatic steatosis (HS). Our objective was to test the association of FINDRISC with MS or HS, in a transversal and longitudinal way. Methods In 41,668 individuals (age 41.9±9.7 years; 30.8% women) who underwent health evaluation between 2008 and 2016 in a single centre in Brazil, we tested the transversal association between FINDRISC and MS or HS, in multivariate models. The same analyzes were performed longitudinally in non-diabetic subgroups, followed for 5±3 years, to test the predictive value of FINDRISC and the incidental risk of MS (n=10,075 individuals) or HS (n=7,097 individuals), using logistic regression. Models were adjusted for confounders such as sex, use of medications for dyslipidemia, smoking, and baseline plasma levels of glucose, creatinine and lipids. A receiver operating characteristic (ROC) curve was used to evaluate the discriminative and predictive values of FINDRISC for MS and HS. Results In the cross-sectional analysis, 2,252 (5%) individuals had MS and 14,176 (34%) HS. In the longitudinal analysis, there were 302 cases of incidental MS (2%) and 1,096 cases of HS (15%). FINDRISC was independently associated with MS and HS in the cross-sectional analysis (respectively, OR 1.27, 95% CI: 1.25–1.28, P<0.001; and OR 1.21, 95% CI: 1.20–1.22, P<0.001, per FINDRISC unit) and in longitudinal analysis (respectively, OR of 1.18, 95% CI: 1.15–1.21, P<0.001; and OR of 1.10, 95% CI: 1.08–1.11, P<0.001, per FINDRISC unit). In comparison with individuals with low FINDRISC, those with moderate, high and very high values showed significant and proportional increases of the 12 to 77 fold in the chance of current SM (P<0.001) and 3 to 10 fold in the chance of HS (P<0.001). During follow-up, these increases were 3 to 10 fold in the chance of incidental MS (P<0.001) and 1 to 3 fold in the chance of HS (P<0.001). The AUC from cross-sectional analysis for MS and HS were respectively 0.82 (95% CI 0.81–0.83) and 0.76 (95% CI 0.75–0.76), and in longitudinal analysis 0.73 (95% CI 0.70–0.76) and 0.63 (95% CI 0.61–0.65), respectively. Conclusion FINDRISC was associated with the presence and onset of MS and HS, but it predicted better metabolic syndrome risk than hepatic steatosis. Therefore, this simple, practical and low-cost score can be useful for population screening and identification of subgroups of individuals at higher risk future metabolic diseases. Funding Acknowledgement Type of funding source: None

Airport Security Screener Competency: A Cross-Sectional and Longitudinal Analysis

2013 ◽  
Vol 23 (2) ◽  
pp. 113-129 ◽  
Author(s):  
Tobias Halbherr ◽  
Adrian Schwaninger ◽  
Glen R. Budgell ◽  
Alan Wales
Keyword(s):  
Longitudinal Analysis ◽  
Airport Security ◽  
Cross Sectional

scholarly journals The Trp64Arg Polymorphism of the β3-Adrenergic Receptor Gene Is Not Associated with Body Weight or Body Mass Index in Japanese: A Longitudinal Analysis

2003 ◽  
Vol 88 (12) ◽  
pp. 5914-5920 ◽  
Author(s):  
Yumi Matsushita ◽  
Tetsuji Yokoyama ◽  
Nobuo Yoshiike ◽  
Yasuhiro Matsumura ◽  
Chigusa Date ◽  
...  
Keyword(s):  
Physical Activity ◽  
Body Mass Index ◽  
Body Weight ◽  
Energy Intake ◽  
Body Mass ◽  
Longitudinal Analysis ◽  
Adrenergic Receptor ◽  
Cross Sectional ◽  
Genotype Frequencies ◽  
The Cross

Abstract The β3-adrenergic receptor (ADRB3) is expressed mainly in visceral adipose tissue and is thought to contribute to lipolysis and the delivery of free fatty acids to the portal vein. Although many studies have examined the relationship between the Trp64Arg mutation of ADRB3 and obesity, the results have been inconsistent. We examined the cross-sectional relationship of ADRB3 variants with indexes of obesity, and their longitudinal changes over 10 yr, in men and women, aged 40–69 yr, who were randomly selected from the Japanese rural population. The study considered both dietary energy intake and physical activity levels. Among the 746 participants, the genotype frequencies of the Trp64Trp, Trp64Arg, and Arg64Arg variants were 483, 224, and 39, respectively. The cross-sectional analysis showed no significant differences in height, weight, body mass index, blood pressure, serum total and high density lipoprotein cholesterols, and hemoglobin A1c among the genotype groups even after adjustments for gender, age, smoking, alcohol drinking, physical activity, and energy intake. No significant differences in the weight changes between the genotype groups were evident in the longitudinal analysis. We conclude that the Trp64Arg mutation of ADRB3 has little or no influence on either body weight or body mass index in the general Japanese population.

scholarly journals Effect of androgen deprivation therapy on serum levels of sclerostin, Dickkopf-1, and osteoprotegerin: a cross-sectional and longitudinal analysis

2021 ◽  
Vol 11 (1) ◽  
Author(s):  
Alice Wang ◽  
Nishi Karunasinghe ◽  
Lindsay D. Plank ◽  
Shuotun Zhu ◽  
Sue Osborne ◽  
...  
Keyword(s):  
Androgen Deprivation Therapy ◽  
Longitudinal Analysis ◽  
Serum Levels ◽  
Androgen Deprivation ◽  
Mineral Density ◽  
Cross Sectional ◽  
Prognostic Features ◽  
Increased Risk ◽  
Positive Correlations ◽  
Dickkopf 1

AbstractAndrogen deprivation therapy (ADT) for men with prostate cancer (PCa) results in accelerated bone loss and increased risk of bone fracture. The aim of the present study was to evaluate serum bone markers—sclerostin, Dickkopf-1 (DKK-1) and osteoprotegerin (OPG), in a cohort of 88 PCa patients without known bone metastases, managed with and without ADT, and to analyse their relationship with bone mineral density (BMD) and sex steroids. The cross-sectional analysis between acute-, chronic- and former-ADT groups and PCa controls showed that sclerostin and OPG levels significantly differed between them (p = 0.029 and p = 0.032). Groups contributing to these significant changes were recorded. There were no significant differences in serum DKK-1 levels across the four groups (p = 0.683). In the longitudinal analysis, significant % decreases within groups were seen for DKK-1 [chronic-ADT (− 10.06%, p = 0.0057), former-ADT (− 12.77%, p = 0.0239), and in PCa controls group (− 16.73, p = 0.0022); and OPG levels in chronic ADT (− 8.28%, p = 0.003) and PCa controls group (− 12.82%, p = 0.017)]. However, % changes in sclerostin, DKK-1, and OPG did not differ significantly over 6-months across the evaluated groups. Sclerostin levels showed significant positive correlations with BMD at baseline in the ADT group, while in PCa controls this correlation existed at both baseline and 6-month time points. Sclerostin correlated negatively with testosterone in former ADT users and in PCa controls. Possible prognostic features denoted by parallel increases in sclerostin and BMD are discussed.

Palestinian Firms’ Status and Employment Under the Israeli Security Regime: Evidence from Establishment Censuses

2021 ◽  
Vol 0 (0) ◽  
Author(s):  
Vladimir Hlasny ◽  
Shireen AlAzzawi
Keyword(s):  
World Bank ◽  
Longitudinal Analysis ◽  
Physical Violence ◽  
Entire Population ◽  
Female Employment ◽  
Total Employment ◽  
Cross Sectional ◽  
Security Regime ◽  
Israeli Occupation

Abstract The Israeli occupation of Palestine is accompanied by violence and a repressive security regime affecting firms’ operations. We assess firms’ status, and female and total employment during 1997–2017 across region–years seeing differently repressive regimes. Indicators of the security regime come from OCHA-oPt, B’Tselem, and World Bank databases. Data on the entire population of establishments come from five waves of the Palestinian Establishment Census allowing for pooled-cross sectional and limited longitudinal analysis. We find that establishments facing tighter regimes – mobility restrictions, physical violence and building demolitions in their governorate – are more likely to suspend their operations or engage in restructuring, rather than continue operating. Repressive regimes are also associated with falling employment levels and in some cases, falling female employment shares. Repressive regimes are thus damaging to employment in Palestine through several channels. Some establishments do not survive, or enter hibernation. Surviving establishments retain fewer workers.

scholarly journals The Association of Serum Lipid and Lipoprotein Levels with Total and Differential Leukocyte Counts: Results of a Cross-sectional and Longitudinal Analysis of the UK Biobank

2020 ◽  
Author(s):  
Bradley Tucker ◽  
Sonia Sawant ◽  
Hannah McDonald ◽  
Kerry-Anne Rye ◽  
Sanjay Patel ◽  
...  
Keyword(s):  
Longitudinal Analysis ◽  
Positive Association ◽  
Hdl Cholesterol ◽  
Uk Biobank ◽  
Cross Sectional ◽  
Lipoprotein A ◽  
Valid Data ◽  
Leukocyte Counts ◽  
The Uk ◽  
Relationship Of

Background and aims: There is some evidence of a cross-sectional, and possibly causal, relationship of lipid levels with leukocyte counts in mice and humans. This study investigates the cross-sectional and longitudinal relationship of blood lipid and lipoprotein levels with leukocyte counts in the UK Biobank cohort. Methods: The primary cross-sectional analysis included 417,132 participants with valid data on lipid measures and leukocyte counts. A subgroup analysis was performed in 333,668 participants with valid data on lipoprotein(a). The longitudinal analysis included 9,058 participants with valid baseline and follow-up data on lipid and lipoprotein levels and leukocyte counts. The association of lipid and lipoprotein levels with leukocyte counts was analysed by multivariable linear regression. Results: Several relationships were significant in both cross-sectional and longitudinal analysis. After adjustment for demographic, socioeconomic and other confounding factors a higher eosinophil count was associated with lower HDL cholesterol and apolipoproteinA-I concentration (p<0.001). Higher triglycerides levels were associated with higher total leukocyte, basophil, eosinophil, monocyte and neutrophil counts (all p<0.01). A higher lymphocyte count was associated with a higher apolipoprotein B level (p<0.001). In the longitudinal analysis lipoprotein(a) was inversely associated with basophil count in men but not women (p<0.001). Conclusion: Triglyceride levels demonstrate a robust positive association with total and differential leukocyte counts suggesting they may be directly involved in leuokogenesis. However, unlike in murine models, the remainder of these relationships are modest which suggests that cholesterol and lipoproteins are minimally involved in leukogenesis in humans.

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