scholarly journals Clinical and Neuroradiological Features of Hereditary Ataxia Patients: Hospital Based Study

QJM ◽  
2020 ◽  
Vol 113 (Supplement_1) ◽  
Author(s):  
N A Fahmy ◽  
A S A Shalash ◽  
T M E Roushdy ◽  
M A Gaber

Abstract Background Ataxia (GK Taxis mean lack of orders) is defined by imbalance in coordination in gait, limbs and speech. It usually results from disorders in cerebellum or its connections. It is disorder of rate, range, direction and force of movements. Aim of the Work to investigate and identify the prevalence of hereditary ataxias regarding clinical and radiological. Subjects and Methods our study is composed of 23 patients, (their age range from 15 years old to 40 years old).We study the effect of positive family history and consanguinity on the prevalence of hereditary ataxias. We assess patients functionally using SARA score. Results there was positive relationship between positive family history and consanguinity and appearance of disease in cases so, it is important to ask about family history, similar condition and do family pedigree to know mode of inheritance if possible. Also, we found positive correlation between duration of disease and SARA score. There was positive correlation between MRI brain finding (cerebellar atrophy or brain stem atrophy), neurophysiological studies (axonal neuropathy) and disease. Conclusion positive family history and consanguinity are risk factors for hereditary ataxias. SARA score is a useful tool to assess hereditary ataxias functionally. MRI brain and neurophysiological studies are useful tools to diagnose hereditary ataxias.

2019 ◽  
Vol 300 (5) ◽  
pp. 1325-1330 ◽  
Author(s):  
Barbara Bodner-Adler ◽  
Oliver Kimberger ◽  
Thomas Laml ◽  
Ksenia Halpern ◽  
Clara Beitl ◽  
...  

Abstract Purpose To investigate the prevalence of pelvic floor disorders (PFDs) in a cohort of Austrian women either during their early or late pregnancy and to search for clinical risk factors which correlate with pelvic floor symptoms during pregnancy. Methods A prospective study was conducted and 200 pregnant women answered the validated German pelvic floor questionnaire during their first or third trimenon of gestation. Furthermore, a multivariate logistic regression model was used to determine independent risk factors for PFDs after adjusting for confounders. Results 96/200 (48%) women reported psychological strain in at least 1 of the 4 pelvic floor domains while the remaining 104 women (52%) were asymptomatic. Affected women showed a significant higher BMI, a more frequent positive family history and a higher rate of multiple pregnancies was noted compared to asymptomatic women (p < 0.05). Furthermore, a statistically significant positive correlation could be observed between BMI, smoking and mean bladder score as well as mean prolapse score, signifying more symptom bother from bladder and prolapse in smokers with high BMI. A significant positive correlation was also detected between mean bowel score and parity. In the multivariate model, high BMI (CI 1.013–1.143), positive family history (CI 0.044–0.260) and multiple pregnancies (CI 0.011–0.244) remained independently associated with pelvic floor symptoms (p < 0.05). Conclusion Our results demonstrate that pelvic floor-related quality of life during pregnancy is a prevalent condition which is strongly affected by the expectant mother’s weight as well as her family history. In addition, women with multiple pregnancies seem to be at increased risk.


2004 ◽  
Vol 171 (4S) ◽  
pp. 172-173
Author(s):  
Kathleen Herkommer ◽  
Juergen E. Gschwend ◽  
Martina Kron ◽  
Richard E. Hautmann ◽  
Thomas Paiss

2021 ◽  
Vol 21 (1) ◽  
Author(s):  
Meng Wang ◽  
Wei-Wei Gong ◽  
Feng Lu ◽  
Ru-Ying Hu ◽  
Qing-Fang He ◽  
...  

Abstract Background Previous studies have indicated inconsistent relationships of diabetes with thyroid cancer risk, yet little is known in China. In this study, we aimed to investigate the associations between diabetes, diabetes duration and the risk of thyroid cancer in Chinese population. Methods A 1:1 matched case-control study was performed between 2015 and 2017 in Zhejiang Province including 2,937 thyroid cancer cases and 2,937 healthy controls. Odds ratios (ORs) with 95 % confidence intervals (CIs) for thyroid cancer were estimated in logistic regression models. Specific effects stratified by age, as well as sex, body mass index (BMI) and family history of diabetes were also examined. Results Overall, neither diabetes (OR = 0.75, 95 % CI: 0.21–2.73) nor diabetes duration (OR = 0.14, 95 % CI: 0.02–1.22 for diabetes duration ≦ 5 years; OR = 2.10, 95 % CI: 0.32–13.94 for diabetes duration > 5 years) was significantly associated with thyroid cancer. In stratified analyses, significant lower risk of thyroid cancer was observed among subjects with diabetes and shorter diabetes duration ( ≦ 5 years), but limited to those who were aged more than 40 years, female, overweight/obese and had positive family history of diabetes. Conclusions Diabetes and shorter diabetes duration were significantly associated with decreased risk of thyroid cancer in individuals characterized by older age, female sex, higher BMI and positive family history of diabetes.


2021 ◽  
Vol 23 (1) ◽  
Author(s):  
Irazú Contreras-Yáñez ◽  
Pilar Lavielle ◽  
Patricia Clark ◽  
Virginia Pascual-Ramos

Abstract Background Assessing risk perception (RP) helps explain how rheumatoid arthritis (RA) patients integrate their ideas concerning the disease and how this understanding affects their self-care management. Compliance with treatment impacts disease-related outcomes and could be associated with RP to variable degrees and at different levels. The primary objective was to determine a potential association between RP and compliance with therapy in RA outpatients and to identify additional factors. The secondary objective was to identify factors associated with judgment bias such as unrealistic RP. Patients and methods Between January 2018 and June 2019, 450 consecutive outpatients who received RA-related treatment were invited to a face-to-face interview to obtain socio-demographic data, RA-related information, comorbidities, and the following outcomes: adherence, persistence, and concordance with medications assessed with a questionnaire locally designed; RP with the RP questionnaire (RPQ); disease activity with the Routine Assessment of Patient Index Data-3 (RAPID-3); disability with the Health Assessment Questionnaire Disability Index (HAQ-DI); quality of life with Medical Outcomes Study Short Form-36 (SF-36) instrument; pain and overall disease with the respective visual analogue scale (VAS); and health literacy assessed with 3 questions. Significant RP was defined according to a cut-off based on the 75th percentile value of the sample in which the RPQ was validated. Unrealistic RP was defined based on the coincidence of the presence/absence of significant RP and less/more than 7 unfavorable medical criteria. Multiple logistic regression analysis was used. Patients provided written informed consent and the study received Internal Review Board approval. Results There were 415 patients included, primarily middle-aged women with long-standing disease and moderate disease activity. Almost half of the patients were receiving corticosteroids and 15.9% intensive RA-related treatment. There were 44.1% of the patients concordant with treatment and 22.6% had significant RP. The patients’ treatment behavior was not retained in the regression analysis; meanwhile, rheumatoid nodes, surgical joint replacement, family history of RA, and higher RAPID-3 score were associated with significant RP. There were 56 patients with unrealistic RP; significant RP and more unfavorable medical criteria were associated with unrealistic RP. Conclusions Compliance with therapy was not associated with significant RP in RA outpatients.


2021 ◽  
Vol 14 (1) ◽  
Author(s):  
Uzair Abbas ◽  
Bushra Imdad ◽  
Sikander Adil Mughal ◽  
Israr Ahmed Baloch ◽  
Afshan Mehboob Khan ◽  
...  

Abstract Objective MicroRNAs are known to regulate 60% of genes at post translational level. MicroRNAs including Micro RNA-29 family play a vital role in cellular activities and have validate role in numerous metabolic disorders inclusive of diabetes mellitus and its complications. While micro RNA profile changes years before the occurrence of disease. This cross-sectional study was conducted in non-diabetic adults of diabetic and non-diabetic parents to explore the early changes in expression of micro RNA-29 family as it can be served as early biomarker of type 2 diabetes in non-diabetic adults. This study was conducted from January 2019 to January 2021. Micro RNA was extracted from plasma of 50 participants and expression was compared through qPCR. While data was analyzed through SPSS version 21.0. Results 29a and 29b had lower expression in participants with family history of DM compared to those having no family history of DM (P < 0.0001). While micro RNA 29c was found to be significantly higher in participants with positive family history of type 2 diabetes as compared to those without family history of diabetes (P = 0.001).


1998 ◽  
Vol 43 (4) ◽  
pp. 375-380 ◽  
Author(s):  
Mary Jane Esplen ◽  
Brenda Toner ◽  
Jonathan Hunter ◽  
Gordon Glendon ◽  
Kate Butler ◽  
...  

Objective: To describe and illustrate elements of a group counselling approach designed to enhance the communication of risk information on breast cancer (BC) to women with a family history of this disease. Breast cancer is a leading cause of female cancer death. The most important risk factor for BC is a positive family history in at least 1 first-degree relative, and approximately one-third of women with BC have a family history of the disease. Recent evidence suggests that there is a significant psychological impact associated with having a family history of BC, and this may influence the psychological adjustment and response to being counselled for personal risk. New counselling approaches are required. Method: This paper describes a group therapy approach that incorporates principles of supportive-expressive therapy designed to address the emotional impact of being at risk for BC and to promote accuracy of perceived risk. The key elements of the intervention are described along with clinical illustrations from groups that are part of an ongoing study to develop and standardize the group therapy. Conclusion: Qualitative data from the groups suggest that this model of therapy is both feasible and effective.


2016 ◽  
Vol 10 (9) ◽  
pp. 1024-1032 ◽  
Author(s):  
Sung Wook Hwang ◽  
Min Seob Kwak ◽  
Wan Soo Kim ◽  
Jeong-Mi Lee ◽  
Sang Hyoung Park ◽  
...  

1997 ◽  
Vol 12 (3) ◽  
pp. 149-151 ◽  
Author(s):  
D Sarantidis ◽  
A Thomas ◽  
K Iphantis ◽  
N Katsaros ◽  
J Tripodianakis ◽  
...  

SummaryIn this study we investigated 1) the changes in anxiety, depression and denial from admission to discharge in patients admitted to the intensive care unit following an acute myocardial infarction and 2) the effect of smoking habits, time lapsed from the appearance of symptoms to seeking help behavior, presence of a person that motivated the patient to seek help, previous myocardial infarction (MI) and family history of MI, on these changes. The results indicated that 1) the levels of both anxiety and depression increased from admission to discharge, while denial decreased; 2) positive family history of MI was associated with lower difference of denial between admission and discharge.


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