Alterations of functional connectivity of the motor cortex in Fabry disease

Neurology ◽  
2017 ◽  
Vol 88 (19) ◽  
pp. 1822-1829 ◽  
Author(s):  
Sirio Cocozza ◽  
Antonio Pisani ◽  
Gaia Olivo ◽  
Francesco Saccà ◽  
Lorenzo Ugga ◽  
...  

Objective:To evaluate the presence of functional connectivity (FC) alterations of the motor circuits in patients with Fabry disease (FD) and their possible correlation with clinical variables with a resting-state (RS) fMRI analysis.Methods:In our cross-sectional study, 32 patients with FD with genetically confirmed classic diagnosis of FD (12 men, mean age 43.3 ± 12.2 years) were enrolled along with 35 healthy controls (HCs) of comparable age and sex (14 men, mean age 42.1 ± 14.5 years). RS-fMRI data were analyzed with a seed-based approach, with 2 different seeds for right and left motor cortex. Patients with FD underwent a clinical examination for the assessment of different motor functions. Correlations with clinical variables were probed with the Spearman correlation coefficient.Results:A reduction of FC was found in patients with FD compared to HCs between both motor cortices and 2 clusters encompassing, for each side, the caudate and lenticular nucleus (p < 5 × 10−4 and p < 10−8 for right and left motor cortex, respectively) and between the left motor cortex and dentate nuclei (p = 0.01) and Crus 1 in the right cerebellar hemisphere (p = 0.001). No significant results emerged in tests for possible correlations of FC with clinical scores.Conclusions:An alteration of the corticostriatal pathway is present in FD, in line with the recently suggested subclinical involvement of motor circuits in this disease. These results shed new light on the pattern of cerebral involvement in FD.

2019 ◽  
Vol 19 (4) ◽  
pp. 414-420
Author(s):  
Payam Mehrian ◽  
Abtin Doroudinia ◽  
Moghadaseh Shams ◽  
Niloufar Alizadeh

Background: Intrathoracic Lymphadenopathy (ITLN) in Human Immunodeficiency Virus (HIV) infected patients may have various etiologies and prognoses. Etiologies of ITLN can be distinguished based on the distribution of enlarged lymph nodes. Sometimes tuberculosis (TB) is the first sign of underlying HIV infection. Objective: We sought to determine ITLN distribution and associated pulmonary findings in TB/HIV co-infection using Computed Tomography (CT) scan. Methods: In this retrospective, observational, cross-sectional study, chest CT scans of 52 patients with TB/HIV co-infection were assessed for enlarged intrathoracic lymph nodes (>10 mm in short axis diameter), lymphadenopathy (LAP) distribution, calcification, conglomeration, the presence of hypodense center and associated pulmonary abnormalities. LAP distribution was compared in TB/HIV co-infection with isolated TB infection. Results: Mediastinal and/or hilar LAP were seen in 53.8% of TB/HIV co-infection patients. In all cases, LAP was multinational. The most frequent stations were right lower paratracheal and subcarinal stations. Lymph node conglomeration, hypodense center and calcification were noted in 25%, 21.4% and 3.5% of patients, respectively. LAP distribution was the same as that in patients with isolated TB infection except for the right hilar, right upper paratracheal and prevascular stations. All patients with mediastinal and/or hilar adenopathy had associated pulmonary abnormalities. Conclusion: All patients with TB/HIV co-infection and mediastinal and/or hilar adenopathy had associated pulmonary abnormalities. Superior mediastinal lymph nodes were less commonly affected in TB/HIV co-infection than isolated TB.


2020 ◽  
Vol 11 ◽  
Author(s):  
Elena Laura Georgescu Margarint ◽  
Ioana Antoaneta Georgescu ◽  
Carmen Denise Mihaela Zahiu ◽  
Stefan-Alexandru Tirlea ◽  
Alexandru Rǎzvan Şteopoaie ◽  
...  

The execution of voluntary muscular activity is controlled by the primary motor cortex, together with the cerebellum and basal ganglia. The synchronization of neural activity in the intracortical network is crucial for the regulation of movements. In certain motor diseases, such as dystonia, this synchrony can be altered in any node of the cerebello-cortical network. Questions remain about how the cerebellum influences the motor cortex and interhemispheric communication. This research aims to study the interhemispheric cortical communication between the motor cortices during dystonia, a neurological movement syndrome consisting of sustained or repetitive involuntary muscle contractions. We pharmacologically induced lateralized dystonia to adult male albino mice by administering low doses of kainic acid on the left cerebellar hemisphere. Using electrocorticography and electromyography, we investigated the power spectral densities, cortico-muscular, and interhemispheric coherence between the right and left motor cortices, before and during dystonia, for five consecutive days. Mice displayed lateralized abnormal motor signs, a reduced general locomotor activity, and a high score of dystonia. The results showed a progressive interhemispheric coherence decrease in low-frequency bands (delta, theta, beta) during the first 3 days. The cortico-muscular coherence of the affected side had a significant increase in gamma bands on days 3 and 4. In conclusion, lateralized cerebellar dysfunction during dystonia was associated with a loss of connectivity in the motor cortices, suggesting a possible cortical compensation to the initial disturbances induced by cerebellar left hemisphere kainate activation by blocking the propagation of abnormal oscillations to the healthy hemisphere. However, the cerebellum is part of several overly complex circuits, therefore other mechanisms can still be involved in this phenomenon.


Nutrients ◽  
2021 ◽  
Vol 13 (6) ◽  
pp. 2032
Author(s):  
Judit Companys ◽  
Maria José Gosalbes ◽  
Laura Pla-Pagà ◽  
Lorena Calderón-Pérez ◽  
Elisabet Llauradó ◽  
...  

We aimed to differentiate gut microbiota composition of overweight/obese and lean subjects and to determine its association with clinical variables and dietary intake. A cross-sectional study was performed with 96 overweight/obese subjects and 32 lean subjects. Anthropometric parameters were positively associated with Collinsella aerofaciens, Dorea formicigenerans and Dorea longicatena, which had higher abundance the overweight/obese subjects. Moreover, different genera of Lachnospiraceae were negatively associated with body fat, LDL and total cholesterol. Saturated fatty acids (SFAs) were negatively associated with the genus Intestinimonas, a biomarker of the overweight/obese group, whereas SFAs were positively associated with Roseburia, a biomarker for the lean group. In conclusion, Dorea formicigenerans, Dorea longicatena and Collinsella aerofaciens could be considered obesity biomarkers, Lachnospiraceae is associated with lipid cardiovascular risk factors. SFAs exhibited opposite association profiles with butyrate-producing bacteria depending on the BMI. Thus, the relationship between diet and microbiota opens new tools for the management of obesity.


NeuroImage ◽  
2014 ◽  
Vol 95 ◽  
pp. 193-207 ◽  
Author(s):  
Laurel J. Gabard-Durnam ◽  
Jessica Flannery ◽  
Bonnie Goff ◽  
Dylan G. Gee ◽  
Kathryn L. Humphreys ◽  
...  

Author(s):  
Seyedeh Samaneh Miresmaeeli ◽  
Nafiseh Esmaeili ◽  
Sepideh Sadeghi Ashlaghi ◽  
Zahra Abbasi Dolatabadi

Abstract Background: Exceptional children, like other children, have the right to be educated in a safe environment. Disasters are considered as serious issues regarding safety and security of educational environments. Following disasters, vulnerable groups, especially children with handicaps and disabilities are more likely to be seriously injured. Thus, the present study aimed to evaluate the safety and disaster risk assessment of exceptional schools in Tehran, Iran. Method: The cross-sectional study was conducted in exceptional schools in Tehran, 2018. First, 55 exceptional schools in all grades were selected based on census sampling method and evaluated by using a checklist designed by Tehran Disaster Mitigation and Management Organization (TDMMO) and Ministry of Education in 2015. The data were analyzed using Excel software and statistical descriptive tests. Result: Based on the results, school facilities are worn and have unsafe elevators (least safety: 7.69%), yards (least safety: 9.52%), laboratories (least safety: 16.67%), libraries (least safety: 24.24%), fire extinguishing systems (least safety: 28.99%), and storage rooms and kitchens (least safety: 33.33%) which require immediate considerations. In total, the safety of exceptional schools in this study was 70.13%, which suggests medium-risk level. Conclusion: The educational settings must be reconsidered, along with identifying the risk and safety at school. In addition, a standard should be established for evaluating safety, especially in exceptional schools.


2019 ◽  
Vol 40 (Supplement_1) ◽  
Author(s):  
T F Cianciulli ◽  
M C Saccheri ◽  
A M Risolo ◽  
J A Lax ◽  
R J Mendez ◽  
...  

Abstract Background Fabry disease is a rare X-linked storage disorder caused by a deficiency of the lysosomal enzyme α-galactosidase A and generally causes multi-organ dysfunction. Heart disease is the main cause of death, due to severe left ventricular (LV) systolic dysfunction and sudden death. In several heart diseases, the LV systolic dysfunction and ventricular arrhythmias are associated with mechanical dispersion (MD). The presence of MD in patients with FD has not been studied yet. In this cross-sectional study, we investigated the prevalence of MD in patients with FD. Methods Complete echocardiographic and speckle tracking echocardiographic (STE) data were collected. MD is an index of inter-segmental discoordination of contraction which has been used to quantify LV dyssynchrony and was defined as the standard deviation (SD) of time to peak negative strain in 17 left ventricular segments. Patients were divided into two groups according to whether or not they had left ventricular hypertrophy (LVH). MD was defined as an SD >49 msec. Results We studied 108 patients with FD, 24 patients (22%) were excluded due to inadequate imaging quality or presence of comorbidities, so the final study population consisted of 84 patients (mean age 33.3±14.6 years, 60.7% women). LVH in FD appears at older ages than in patients without LVH (48±12.5 y/o vs 27.8±11.1 y/o, p<0.0001). Patients with FD without LVH (Group I) showed normal global longitudinal peak strain (GLPS) (21.2±2.5%) and no MD (32.7±8.8 msec). In Group II (n=23) patients with FD with LVH, 17 (73.9%) had MD >49 msec prolonged mechanical dispersion (73.3±20.7 msec) and reduced GLPS (13.6±4.0%). MD was more pronounced in Fabry patients with LVH than in patients without LVH (63.4±24.7 msec vs. 32.7±8.8 msec, p<0.0001). GLPS was lower in Fabry patients with LVH than in patients without LVH (15.3±4.7% vs 21.2±2.5%, p<0.0001). Figure 1 Conclusions To our knowledge, this is the first study to demonstrate the prevalence of mechanical dispersion in patients with FD. Mechanical dispersion was seen in 73.9% of patients with FD with LVH. This dyssynchrony should be taken into account in patients who develop heart failure or life-threatening ventricular tachyarrhythmias.


2021 ◽  
Vol ahead-of-print (ahead-of-print) ◽  
Author(s):  
Kochu Therisa Karingada ◽  
Michael Sony

PurposeThe COVID-19 pandemic lockdown has caught many educational institutions by surprise and warranted an abrupt migration from offline to online learning. This has resulted in an education change, without any time for due consideration, as regards its impact on musculoskeletal disorders (MSD) on students. The purpose of this study is to investigate MSD related to online learning during the COVID-19 pandemic lockdown.Design/methodology/approachA cross-sectional study was conducted on undergraduate students in India. In total, 261 students participated in this online survey.FindingsThe study finds that around 80% of students have reported some symptom in the head, neck and eyes since they started online learning. In total, 58% have reported MSD symptom in the right shoulder and 56% in the right hand fingers. Besides, more than 40 % of students experienced some MSD symptoms, in almost all the body parts studied, due to online learning. Correlation analysis is conducted between time spent on online learning per day and MSD symptoms.Originality/valueThis is the first study conducted on MSD and online learning during COVID-19 pandemic.


2021 ◽  
Vol ahead-of-print (ahead-of-print) ◽  
Author(s):  
Raj Chandra ◽  
Abdul Munasib ◽  
Devesh Roy ◽  
Vinay K. Sonkar

Purpose Information is often available to consumers through their social networks. Focusing on dairy consumers in India, this paper aims to present evidence of peer effects in consumers’ attitudes towards various food safety attributes and food safety practices. Design/methodology/approach Unobserved individual heterogeneities are crucial confounders in the identification of social (endogenous) effects. The identification is based on exploiting within-consumer variation across different aspects of attitude (or practices) related to food safety. Findings This paper uses a novel identification strategy that allows for average effects across attributes and practices to be estimated. Using the strategy, though this paper cannot estimate endogenous effects in each attribute or practice, this paper is able to identify such effects averaged over attributes or practices. Research limitations/implications Cross-sectional study, caste affiliation is not defined at the right level of granularity. Practical implications The results suggest that information campaigns aimed at creating awareness about food safety can have social multiplier effects, and this also translates into changes in the practices followed to mitigate food safety risks. Social implications In health-related awareness and practices, there are well-established cases of multiplier effects. The most significant example of this is the Pulse Polio campaign in India, where an awareness drives through social multiplier effects had such a significant impact that in 2012 India was declared polio-free. Perhaps, a similar campaign in matters related to food safety could be very fruitful. Originality/value The methodology and the issue are unique. Little exists in assessing social networks in the context of food safety.


2018 ◽  
Vol 08 (02) ◽  
pp. 72-76
Author(s):  
Mahrukh Kamran ◽  
Sahar Mubeen ◽  
Iffat Raza ◽  
Sanobar Bughio ◽  
Hira Waseem ◽  
...  

Objectives: To determine the effect of serum TSH on thyroid dimensions of each lobe and to measure the amount of effect of per unit increase in serum TSH on thyroid dimensions of each lobe in euthyroids. Study Design: It was a cross-sectional study. Setting: The study was conducted at Ziauddin University Hospital, Clifton, Karachi. Methodology: Healthy participants aged 21 years and above were included through convenient sampling. Serum Thyroid stimulating hormone was evaluated and ultrasound of thyroid gland TG of 192 euthyroid participants was performed. Spearman correlation and regression analysis was applied to evaluate the relationship between TSH and TG dimensions Results: Relationship of increase in serum TSH with decrease in light lobe AP dimension was most significant. (r= -0.142 P-Value=0.001) and CC dimension least significant (r= -0.0098 P-Value=0.001). Where as in the left lobe AP dimension decreases significantly with increase serum TSH (r= -0.147 P-value=0.001). 11.7% of total variation in AP dimension, 3.5% of total variation in ML dimension and 6.5% of total variation in CC dimension in right lobe thyroid are because of serum TSH. While 9.5% of the total variation in AP dimension in left lobe is also due to serum TSH. Conclusion: Negative and significant correlation between serum TSH and thyroid dimensions was observed. Serum TSH inversely and significantly affects all the dimensions of the right lobe and only one dimension in the left lobe


Author(s):  
L. Kannan ◽  
Praveena P.

Background: Stress is a mental, physical and emotional response to life demands. Long hours of work, client demands, changing laws- creates stress and eventually hypertension among advocates. Well-being of the advocates are being questioned. Hence the main objective of the study is to evaluate the relationship between stress and hypertension among practising advocates.Methods: A cross-sectional study was conducted in a sample of 300 practising advocates at Madurai district court for a period of 1 year by simple random sampling method.Results: Around 133 (44.33%) and 167 (55.66%) of study participants were in level of high stress and low stress respectively. Among high stressed participants, a majority of 113 (84.96%) were found to be hypertensives and among the low stressed participants only 10 (5.98%) were hypertensives. The difference of observation was found to be statistically significant (p=0.0000).Conclusions: In conclusion the study explains that practising advocates with high perceived stress 113 (84.96%) were found to be hypertensives. Stress has a significant association with hypertension. The right way to manage stress is to implement coping strategies.


Sign in / Sign up

Export Citation Format

Share Document