scholarly journals Transcranial sonography in carriers of Gaucher disease

2019 ◽  
Author(s):  
Fatemeh Omrani ◽  
Shahla Ansari-Damavandi ◽  
Babak Zamani ◽  
Zahra Omrani ◽  
Nahid Mohammadzade ◽  
...  
Keyword(s):  
Genetic Risk ◽  
Gaucher Disease ◽  
Demographic Data ◽  
Third Ventricle ◽  
Transcranial Sonography ◽  
Healthy Controls ◽  
Mutation Carriers ◽  
Genetic Status ◽  
Mini Mental Status Examination ◽  
Mental Status Examination

Background: Glucocerebrosidase (GBA) mutation is the most common genetic risk factor in Parkinson’s disease (PD). Transcranial sonography (TCS) shows increased substantia nigra (SN) echogenicity in both idiopathic and genetic forms of PD. The goal of this study was to compare maximal area of SN hyperechogenicity (aSNmax) and diameter of third ventricle (DTV) between GBA mutation carriers and healthy controls. Methods: Twenty-six carriers of GBA mutation and twenty-six healthy controls underwent TCS. The aSNmax and the DTV were measured. Mini-mental status examination (MMSE) and demographic data of the subjects were recorded, too. Results: Mean aSNmax in GBA mutation carriers was significantly higher (0.31 ± 0.06 cm2) than controls (0.16 ± 0.04 cm2). Moreover, DTV was significantly higher in GBA mutation carriers group (3.98 ± 0.90 vs 3.29 ± 0.56 cm). Conclusion: Increased SN echogenicity and increased third ventricle diameter in GBA mutation carriers may be caused by alterations in iron metabolism with reference to their genetic status.

scholarly journals The Remote Assessment of Parkinsonism Supporting Ongoing Development of Interventions in Gaucher Disease - Study Protocol

2021 ◽  
Author(s):  
Abigail Louise Higgins ◽  
Marco Toffoli ◽  
Stephen Mullin ◽  
Chiao-Yin Lee ◽  
Sofia Koletsi ◽  
...  
Keyword(s):  
Risk Factor ◽  
Parkinson Disease ◽  
Study Protocol ◽  
Genetic Risk ◽  
Gaucher Disease ◽  
Prodromal Symptoms ◽  
Mutation Carriers ◽  
Remote Assessment ◽  
Ongoing Development ◽  
Disease Study

Mutations in GBA which are causative of Gaucher disease in their biallelic form, are the most common genetic risk factor for Parkinson disease. The diagnosis of Parkinson disease relies upon clinically defined motor features which appear after irreversible neurodegeneration. Prodromal symptoms of Parkinson disease may provide a means to predict latent pathology, years before the onset of motor features. Previous work has reported prodromal features of Parkinson disease in GBA mutation carriers, however this has been insufficiently sensitive to identify those that will develop Parkinson disease. The Remote Assessment of Parkinsonism Supporting Ongoing Development of Interventions in Gaucher Disease (RAPSODI) study assesses a large cohort of GBA mutation carriers, to aid development of procedures for earlier diagnosis of Parkinson disease.

scholarly journals A-167 The Relationship Between Judgement/Reasoning and Global Mental Status

2020 ◽  
Vol 35 (6) ◽  
pp. 961-961
Author(s):  
Keener J ◽  
Ramsay C ◽  
Caron J
Keyword(s):  
Mental Status ◽  
Mini Mental State Examination ◽  
Neurocognitive Disorder ◽  
Retrospective Data ◽  
Healthy Controls ◽  
Practical Judgment ◽  
Mini Mental Status Examination ◽  
Mental Status Examination ◽  
The Relationship ◽  
State Examination

Abstract Objective The purpose of this study was to gather information on the relationship between judgement/reasoning and global mental status (HC = healthy controls, MCI = Mild Cognitive Impairment, and MND = Major Neurocognitive Disorder) by examining the relationship between performance on the Test of Practical Judgment (TOP-J) and mental status screening in a Veteran population. Method The retrospective data sample consisted of 218 Veterans, aged 28–96 (M = 69.67, SD = 12.9434), 95.87% male, 98.62% Caucasian, with a mean education of 12.55 years (SD = 2.32). Mental status screening consisted of the raw scores of Mini-Mental Status Examination-2nd edition (MMSE-2) and the Mini-Mental State Examination (3MS, using MMSE equivalent scores). Participants were placed into three categories based on mental status scores: HC (n = 79), MCI (n = 75), and MND (n = 64). TOP-J scores consisted of raw score across 9 items. Results TOPJ and mental status were mildly correlated for HC (r = .27) and MND (r = 0.34); however, there was minimal correlation for Veterans identified as MCI (r = 0.18). Conclusion A relationship between judgement/reasoning and global mental status was remarkable for HC and MNC but not for MCI. This may be related to the fact that deficits in judgement/reasoning, by definition, tend to be subtle or non-existent for individuals with MCI. Additionally, studies have revealed the MMSE-2 and TOP-J both have limited specificity in accurately identifying MCI patients.

scholarly journals The remote assessment of parkinsonism supporting ongoing development of interventions in Gaucher disease

2021 ◽  
Author(s):  
Abigail Louise Higgins ◽  
Marco Toffoli ◽  
Stephen Mullin ◽  
Chiao-Yin Lee ◽  
Sofia Koletsi ◽  
...  
Keyword(s):  
Parkinson’S Disease ◽  
Risk Factor ◽  
Genetic Risk ◽  
Gaucher Disease ◽  
Large Cohort ◽  
Genetic Risk Factor ◽  
Prodromal Symptoms ◽  
Mutation Carriers ◽  
Remote Assessment ◽  
Ongoing Development

Mutations in GBA which are causative of Gaucher disease in their biallelic form, are the most common genetic risk factor for Parkinson's disease (PD). The diagnosis of PD relies upon clinically defined motor features which appear after irreversible neurodegeneration. Prodromal symptoms of PD may provide a means to predict latent pathology, years before the onset of motor features. Previous work has reported prodromal features of PD in GBA mutation carriers, however this has been insufficiently sensitive to identify those that will develop PD. The Remote Assessment of Parkinsonism Supporting Ongoing Development of Interventions in Gaucher Disease (RAPSODI GD) study assesses a large cohort of GBA mutation carriers, to aid development of procedures for earlier diagnosis of PD.

Elevated Serum Glucose-6-Phosphate Isomerase Correlates with Histological Disease Activity and Clinical Improvement After Initiation of Therapy in Patients with Rheumatoid Arthritis

2010 ◽  
Vol 37 (12) ◽  
pp. 2452-2461 ◽  
Author(s):  
LIE DAI ◽  
LANG-JING ZHU ◽  
DONG-HUI ZHENG ◽  
YING-QIAN MO ◽  
XIU-NING WEI ◽  
...  
Keyword(s):  
Rheumatoid Arthritis ◽  
Disease Activity ◽  
Demographic Data ◽  
Elevated Serum ◽  
Serum Marker ◽  
Serum Glucose ◽  
Healthy Controls ◽  
Synovitis Score ◽  
Initiation Of Therapy ◽  
Activity Indices

Objective.To determine serum glucose-6-phosphate isomerase (GPI) concentrations in patients with rheumatoid arthritis (RA), and to test whether they correlate with objective measures of disease activity.Methods.Sera from 116 patients with RA, 69 patients with non-RA rheumatic diseases, and 101 healthy controls were analyzed. Levels of soluble serum GPI were measured by ELISA. Histological disease activity was determined with the synovitis score in synovial needle biopsies from 58 of the 116 patients with RA. Thirty-one of the 58 synovium samples were stained for CD68, CD3, CD20, CD38, CD79a, and CD34 by immunohistochemistry. Demographic data were collected, as well as serological and clinical variables that indicate RA disease activity, for Spearman correlation analysis.Results.Serum GPI level correlated positively with the synovitis score (r = 0.278, p = 0.034). Significantly higher soluble GPI levels were detected in the RA sera compared with sera from healthy controls and the non-RA disease controls (2.25 ± 2.82 vs 0.03 ± 0.05 and 0.19 ± 0.57 μg/ml, respectively; p < 0.0001). The rate of serum GPI positivity was significantly higher in the RA patients than in the non-RA disease controls (64.7% vs 10.1%; p < 0.0001). Spearman analysis showed no significant correlation between serum GPI level and Disease Activity Score in 28 joints at baseline. After initiation of antirheumatic treatments, GPI levels decreased significantly (2.81 ± 3.12 vs 1.44 ± 2.09 μg/ml; p = 0.016), paralleling improvement of the disease activity indices.Conclusion.Elevated serum GPI may be involved in the synovitis of RA and may prove useful as a serum marker for disease activity of RA.

Identifying neuroanatomical signatures of anorexia nervosa: a multivariate machine learning approach

2015 ◽  
Vol 45 (13) ◽  
pp. 2805-2812 ◽  
Author(s):  
L. Lavagnino ◽  
F. Amianto ◽  
B. Mwangi ◽  
F. D'Agata ◽  
A. Spalatro ◽  
...  
Keyword(s):  
Machine Learning ◽  
Anorexia Nervosa ◽  
Predictive Accuracy ◽  
Third Ventricle ◽  
Healthy Controls ◽  
Drive For Thinness ◽  
Individual Subject ◽  
Machine Learning Approach ◽  
Scan Data ◽  
Selection Operator

BackgroundThere are currently no neuroanatomical biomarkers of anorexia nervosa (AN) available to make clinical inferences at an individual subject level. We present results of a multivariate machine learning (ML) approach utilizing structural neuroanatomical scan data to differentiate AN patients from matched healthy controls at an individual subject level.MethodStructural neuroimaging scans were acquired from 15 female patients with AN (age = 20, s.d. = 4 years) and 15 demographically matched female controls (age = 22, s.d. = 3 years). Neuroanatomical volumes were extracted using the FreeSurfer software and input into the Least Absolute Shrinkage and Selection Operator (LASSO) multivariate ML algorithm. LASSO was ‘trained’ to identify ‘novel’ individual subjects as either AN patients or healthy controls. Furthermore, the model estimated the probability that an individual subject belonged to the AN group based on an individual scan.ResultsThe model correctly predicted 25 out of 30 subjects, translating into 83.3% accuracy (sensitivity 86.7%, specificity 80.0%) (p < 0.001; χ2 test). Six neuroanatomical regions (cerebellum white matter, choroid plexus, putamen, accumbens, the diencephalon and the third ventricle) were found to be relevant in distinguishing individual AN patients from healthy controls. The predicted probabilities showed a linear relationship with drive for thinness clinical scores (r = 0.52, p < 0.005) and with body mass index (BMI) (r = −0.45, p = 0.01).ConclusionsThe model achieved a good predictive accuracy and drive for thinness showed a strong neuroanatomical signature. These results indicate that neuroimaging scans coupled with ML techniques have the potential to provide information at an individual subject level that might be relevant to clinical outcomes.

scholarly journals Genetic susceptibility of opioid receptor genes polymorphism to drug addiction: A candidate-gene association study

2021 ◽  
Vol 21 (1) ◽  
Author(s):  
Laith N. AL-Eitan ◽  
Doaa M. Rababa’h ◽  
Mansour A. Alghamdi
Keyword(s):  
Drug Addiction ◽  
Genetic Variants ◽  
Genetic Risk ◽  
Genetic Factors ◽  
Healthy Controls ◽  
Candidate Gene Association Study ◽  
Candidate Gene Association ◽  
Addiction Risk ◽  
Arab Descent ◽  
Gene Association Study

Abstract Background Like other complex diseases including drug addiction, genetic factors can interfere with the disease. In this study, three opioid genes (OPRM1, OPRD1, and OPRK1) were examined for an association with drug addiction among Jordanian males. Methods The study involved 498 addicts, in addition to 496 healthy controls and all from Arab descent. Results The findings in this study showed that rs1799971 of the OPRM1 gene was in association with drug addiction for both alleles and genotypes with P-values = 0.002 and 0.01, respectively. In addition, a significant association between the dominant model (A/A vs G/A-G/G) of rs1799971 (OPRM1) and drug addiction (P-value = 0.003, OR = 1.59 (1.17–2.15)) was detected. Moreover, a genetic haplotype (AGGGCGACCCC) of theOPRM1 gene revealed a significant association with drug addiction (P-value = 0.01, OR = 1.56 (1.15–2.12)). We also found that the age of addicts, smoking, and marital status with genetic variants within OPRM1, OPRD1, and OPRK1 genes may be implicated in drug addiction risk. Conclusion We propose that rs1799971 of the OPRM1gene is a genetic risk factor for drug addiction among Jordanian males.

scholarly journals Dermal fibroblasts from patients with Parkinson’s disease have normal GCase activity and autophagy compared to patients with PD and GBA mutations

F1000Research ◽  
2017 ◽  
Vol 6 ◽  
pp. 1751 ◽  
Author(s):  
Lucy M Collins ◽  
Janelle Drouin-Ouellet ◽  
Wei-Li Kuan ◽  
Timothy Cox ◽  
Roger A Barker
Keyword(s):  
Risk Factors ◽  
Parkinson’S Disease ◽  
Parkinson's Disease ◽  
Genetic Risk ◽  
Gaucher Disease ◽  
Dermal Fibroblasts ◽  
Skin Fibroblasts ◽  
Autophagic Flux ◽  
Clinical Progression ◽  
Gba Mutations

Background: Recently, the development of Parkinson’s disease (PD) has been linked to a number of genetic risk factors, of which the most common is glucocerebrosidase (GBA) mutations. Methods: We investigated PD and Gaucher Disease (GD) patient derived skin fibroblasts using biochemistry assays. Results: PD patient derived skin fibroblasts have normal glucocerebrosidase (GCase) activity, whilst patients with PD and GBA mutations have a selective deficit in GCase enzyme activity and impaired autophagic flux. Conclusions: This data suggests that only PD patients with a GBA mutation have altered GCase activity and autophagy, which may explain their more rapid clinical progression.

scholarly journals Effect of COVID-19 Pandemic on Anxiety in Rheumatology Patients Taking Immunosuppressive Drugs

2020 ◽  
Author(s):  
Tugba Izci Duran ◽  
Seyyid Bilal Acikgoz ◽  
Cemal Gurbuz ◽  
Aysegul Ucar ◽  
Gokhan Yavuzbilge ◽  
...  
Keyword(s):  
Musculoskeletal Diseases ◽  
Demographic Data ◽  
Immunosuppressive Drugs ◽  
High Risk Group ◽  
Anxiety Symptoms ◽  
Healthy Controls ◽  
Treatment Team ◽  
Additional Information ◽  
Education Levels ◽  
Anxiety Levels

Abstract Introduction: Coronavirus disease 2019 (COVID-19) pandemic is a public health emergency that is causing international concern. Patients with medical comorbidities are more likely to be infected and have a worse prognosis. The purpose of this study was to determine the prevalence of anxiety due to COVID-19 pandemic in patients with rheumatic and musculoskeletal diseases (RMDs) who used immunosuppressive drugs during the initial stage of the COVID-19 pandemic and to identify the risk and protective factors that cause anxiety.Methods: A total of 145 patients with RMDs aged ≥18 years who used regular immunosuppressive drugs and 95 healthy controls were included in the study. An anonymous survey comprising questions regarding the COVID-19 pandemic was used, and the Beck anxiety inventory (BAI) was used to measure the anxiety levels of participants. Additional information was collected such as demographic data, current RMDs, immunosuppressive drugs used, information and concerns about COVID-19, and the source of information about COVID-19.Results: About 42.1% patients reported that the epidemic caused concern due to the drug they were using, and 33.8% rated their concerns as moderate and severe. The BAI scores of patients and healthy controls were 4 (0-52) and 3 (0-18) respectively. According to the BAI scores, 16.5% patients had moderate to severe anxiety symptoms; and comparison of the groups showed that the anxiety level of the patient group was significantly higher (38.6% vs. 18.9%, p=0.001). Female had more anxiety symptoms in both groups (p<0.005). In addition, anxiety was lower in patients with higher education levels (p=0.039).Conclusion: It should be ensured that patients in the high-risk group are not provided false information, the patients are individually informed, and they trust the treatment team. Providing online or smartphone-based psychoeducation and psychological interventions may be considered for these patients with high anxiety levels.

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