Familial Spinocerebellar Ataxia Type 2 Parkinsonism Presenting as Intractable Oromandibular Dystonia

We have previously described a Korean family afflicted with spinocerebellar ataxia type 2 (SCA2) parkinsonism in which genetic analysis revealed CAG expansion of 40 repeats in the ATXN2 gene.1 The affected members presented with levodopa-responsive parkinsonism without cerebellar ataxia. Some showed motor fluctuation and dyskinesia, further mimicking idiopathic Parkinson’s disease (PD). Herein, we report a member of this family who developed jaw-opening and lingual-protrusion dystonia as the chief presentation

Episodic astasia-abasia associated with hyperperfusion in the subthalamic region and dorsal brainstem

Astasia-abasia refers to the inability to stand or walk despite possessing good motor strength and conserved voluntary coordination. Although it is usually regarded as a psychogenic disorder, organic causes have been reported. Herein we describe a patient who presented with alcohol-induced episodic astasia-abasia. Interestingly, SPECT performed during an episode showed hyperperfusion in the dorsal brainstem and subthalamic region. These areas roughly coincide with the mesencephalic locomotor region and subthalamic locomotor region, respectively, and it is conceivable that abnormal neural activity in these areas is related to the symptoms in our patient.Musienko PE, 2008, BEHAV BRAIN RES, V190, P124, DOI 10.1016/j.bbr.2008.02.011Jahn K, 2008, NEUROIMAGE, V39, P786, DOI 10.1016/j.neuroimage.2007.09.047Song IU, 2007, EUR NEUROL, V57, P106, DOI 10.1159/000098061Kataoka H, 2006, STROKE, V37, pE3, DOI 10.1161/01.STR.0000195046.89926.98Lee PH, 2005, EUR J NEUROL, V12, P317Hathout GM, 2005, AM J ROENTGENOL, V184, P953Ouchi Y, 2001, J CEREBR BLOOD F MET, V21, P1058Yazici KM, 1998, PSYCHIAT RES-NEUROIM, V83, P163TIIHONEN J, 1994, AM J PSYCHIAT, V151, P1505MASDEU JC, 1994, ANN NEUROL, V35, P619FELICE KJ, 1990, NEUROLOGY, V40, P1004MASDEU JC, 1988, ANN NEUROL, V23, P596

Comparison of once-daily versus twice-daily combination of Ropinirole prolonged release in Parkinson¿s disease

Trial registration : This study is registered with ClinicalTrials.gov, number NCT00986245.Background : Ropinirole prolonged release (RPR) is a once-daily formulation. However, there may be individual pharmacokinetic differences so that multiple dosing may be preferred in some individuals. This study compares once-daily and twice-daily RPR in patients with Parkinsons disease. Methods : This study was an open-label crossover study. We enrolled Parkinsons disease patients on dopamine agonist therapy with unsatisfactory control such as motor fluctuation, dyskinesia and sleep-related problems. Agonists were switched into equivalent dose of RPR. Subjects were consecutively enrolled into either once-daily first or twice-daily first groups, and received the same amount of RPR in a single and two divided dosing for 8 weeks respectively in a crossover manner without a washout period. The primary outcome was a questionnaire of the preference completed by patients in the last visit. The secondary outcome measures included the Unified Parkinsons Disease Rating Scale part 3 (mUPDRS), Hoehn and Yahr stage (H&Y); sleep questionnaire including overall quality of sleep, nocturnal off symptoms and early morning symptoms; Epworth Sleep Scale (ESS); compliances and patient global impression (PGI). Results : A total of 82 patients were enrolled and 61 completed the study. 31 patients preferred twice-daily regimen, 17 preferred the once-daily regimen, and 13 had no preference. Their mean mUPDRS, H&Y, ESS, sleep quality, compliance and adverse events were not statistically different in both regimens. PGI-improvement on wearing off defined was better in twice-daily dosing regimen. Conclusions : RPR is a once-daily formulation, but multiple dosing was preferred in many patients. Multiple dosing of RPR might be a therapeutic option if once-daily dosing is unsatisfactory.This study was supported by a grant of the Korea Health technology R&D Project, Ministry of Health & Welfare, Republic of Korea. (A101273, BSJ).Peer Reviewe

A qualitative study on the internal response of medical students during the transgender healthcare education: a focus on professional identity

Purpose This qualitative study examined the inner response of medical students who participated in a transgender healthcare education program. The factors that effected the inner response were investigated in order to suggest strategies for improving the effectiveness of the transgender healthcare education program. Methods The transgender healthcare education program consisted of 2 hours of lectures and 2 hours of clinical role-play over 3 weeks. Eight 4-year medical students in Seoul, South Korea, were selected considering gender, the route of admission to medical school, and religion. Each student was interviewed individually for approximately 30 minutes 3 times before, during, and after the educational program, and interviews were analyzed using thematic analysis. Results By attending the transgender healthcare education program, students have shown three types of inner response—confusion, acceptance, and negotiation. The students’ personal identities and professional identities influenced these responses. In particular, students’ existing professional identities motivated them to learn about transgender healthcare and played a key role in resolving the discomfort that occurred during the educational program. Through the transgender healthcare education, students were able to reduce prejudice against transgender people, understand the unique medical needs of the transgender population and increase their self-efficacy related to transgender health care. Conclusion The transgender healthcare education program allowed medical school students to acquire medical knowledge related to transgender patients and increase their cultural competence as future medical professionals. In addition, as the professional identity is critical in educating transgender healthcare, it should be considered thoroughly in order to effectively educate the medical students

Prediction of Alzheimer's disease pathophysiology based on cortical thickness patterns

AbstractIntroductionRecent studies have shown that pathologically defined subtypes of Alzheimer's disease (AD) represent distinctive atrophy patterns and clinical characteristics. We investigated whether a cortical thickness–based clustering method can reflect such findings.MethodsA total of 77 AD subjects from the Alzheimer's Disease Neuroimaging Initiative 2 data set who underwent 3-T magnetic resonance imaging, [18F]-fluorodeoxyglucose-positron emission tomography (PET), [18F]-Florbetapir PET, and cerebrospinal fluid (CSF) tests were enrolled. After clustering based on cortical thickness, diverse imaging and biofluid biomarkers were compared between these groups.ResultsThree cortical thinning patterns were noted: medial temporal (MT; 19.5%), diffuse (55.8%), and parietal dominant (P; 24.7%) atrophy subtypes. The P subtype was the youngest and represented more glucose hypometabolism in the parietal and occipital cortices and marked amyloid-beta accumulation in most brain regions. The MT subtype revealed more glucose hypometabolism in the left hippocampus and bilateral frontal cortices and less performance in memory tests. CSF test results did not differ between the groups.DiscussionCortical thickness patterns can reflect pathophysiological and clinical changes in AD

Longitudinal evolution of cortical thickness signature reflecting Lewy body dementia in isolated REM sleep behavior disorder: a prospective cohort study

Background The isolated rapid-eye-movement sleep behavior disorder (iRBD) is a prodromal condition of Lewy body disease including Parkinson's disease and dementia with Lewy bodies (DLB). We aim to investigate the longitudinal evolution of DLB-related cortical thickness signature in a prospective iRBD cohort and evaluate the possible predictive value of the cortical signature index in predicting dementia-first phenoconversion in individuals with iRBD. Methods We enrolled 22 DLB patients, 44 healthy controls, and 50 video polysomnography-proven iRBD patients. Participants underwent 3-T magnetic resonance imaging (MRI) and clinical/neuropsychological evaluations. We characterized DLB-related whole-brain cortical thickness spatial covariance pattern (DLB-pattern) using scaled subprofile model of principal components analysis that best differentiated DLB patients from age-matched controls. We analyzed clinical and neuropsychological correlates of the DLB-pattern expression scores and the mean values of the whole-brain cortical thickness in DLB and iRBD patients. With repeated MRI data during the follow-up in our prospective iRBD cohort, we investigated the longitudinal evolution of the cortical thickness signature toward Lewy body dementia. Finally, we analyzed the potential predictive value of cortical thickness signature as a biomarker of phenoconversion in iRBD cohort. Results The DLB-pattern was characterized by thinning of the temporal, orbitofrontal, and insular cortices and relative preservation of the precentral and inferior parietal cortices. The DLB-pattern expression scores correlated with attentional and frontal executive dysfunction (Trail Making Test-A and B: R = − 0.55, P = 0.024 and R = − 0.56, P = 0.036, respectively) as well as visuospatial impairment (Rey-figure copy test: R = − 0.54, P = 0.0047). The longitudinal trajectory of DLB-pattern revealed an increasing pattern above the cut-off in the dementia-first phenoconverters (Pearsons correlation, R = 0.74, P = 6.8 × 10−4) but no significant change in parkinsonism-first phenoconverters (R = 0.0063, P = 0.98). The mean value of the whole-brain cortical thickness predicted phenoconversion in iRBD patients with hazard ratio of 9.33 [1.16–74.12]. The increase in DLB-pattern expression score discriminated dementia-first from parkinsonism-first phenoconversions with 88.2% accuracy. Conclusion Cortical thickness signature can effectively reflect the longitudinal evolution of Lewy body dementia in the iRBD population. Replication studies would further validate the utility of this imaging marker in iRBD

Association between cardiorespiratory fitness and the prevalence of metabolic syndrome among Korean adults: a cross sectional study

BACKGROUND: The purpose of the current study was to investigate the association between cardiorespiratory fitness (CRF), measured by a simple step test, and the prevalence of metabolic syndrome among Korean adults, in a cross sectional design. METHODS: A total of 1,007 Korean adults (488 men and 519 women) who underwent routine health checkups were recruited. CRF was measured by Tecumseh step test. The National Cholesterol Education Program’s Adult Treatment Panel III guideline was used to determine the prevalence of metabolic syndrome. A logistic regression was performed to reveal possible associations. RESULTS: The results of the study showed that a lower level of CRF was significantly associated with a higher prevalence of metabolic syndrome in men, but not in women. On the other hand, higher BMI was associated with a higher prevalence of metabolic syndrome in both men and women. However, BMI was not associated with fasting glucose nor hemoglobinA1c in men. When the combined impact of BMI and CRF on the prevalence of metabolic syndrome was analyzed, a significantly increased prevalence of metabolic syndrome was found in both men (odds ratio [OR]: 18.8, 95% Confidence Interval [CI]: 5.0 - 70.5) and women (OR: 8.1, 95% CI: 2.8 - 23.9) who had high BMI and low cardiorespiratory fitness. On the other hand, the prevalence of metabolic syndrome was only increased 7.9 times (95% CI: 2.0 - 31.2) in men and 5.4 times (95% CI: 1.9 - 15.9) in women who had high level of CRF and high BMI. CONCLUSION: In conclusion, the current study demonstrated the low CRF and obesity was a predictor for metabolic syndrome in Korean adults

Akkermansia muciniphila-derived extracellular vesicles influence gut permeability through the regulation of tight junctions

The gut microbiota has an important role in the gut barrier, inflammation and metabolic functions. Studies have identified a close association between the intestinal barrier and metabolic diseases, including obesity and type 2 diabetes (T2D). Recently, Akkermansia muciniphila has been reported as a beneficial bacterium that reduces gut barrier disruption and insulin resistance. Here we evaluated the role of A. muciniphila-derived extracellular vesicles (AmEVs) in the regulation of gut permeability. We found that there are more AmEVs in the fecal samples of healthy controls compared with those of patients with T2D. In addition, AmEV administration enhanced tight junction function, reduced body weight gain and improved glucose tolerance in high-fat diet (HFD)-induced diabetic mice. To test the direct effect of AmEVs on human epithelial cells, cultured Caco-2 cells were treated with these vesicles. AmEVs decreased the gut permeability of lipopolysaccharide-treated Caco-2 cells, whereas Escherichia coli-derived EVs had no significant effect. Interestingly, the expression of occludin was increased by AmEV treatment. Overall, these results imply that AmEVs may act as a functional moiety for controlling gut permeability and that the regulation of intestinal barrier integrity can improve metabolic functions in HFD-fed mice.11Ysciescopuskc