40 research outputs found
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PLA2G6-associated Dystonia-Parkinsonism: Case Report and Literature Review
Get PDFBackground:Phospholipase-associated neurodegeneration (PLAN) caused by PLA2G6 mutations is a recessively inherited disorder with three known phenotypes: the typical infantile onset neuroaxonal dystrophy (INAD); an atypical later onset form (atypical NAD); and the more recently recognized young-onset dystonia–parkinsonism (PLAN-DP).
Case Report: We report the clinical, radiological, and genetic findings of a young Pakistani male with PLAN-DP. We review 11 previously published case reports cited in PubMed, and summarize the demographic, clinical, genetic, and radiological data of the 23 patients described in those articles.
Discussion: PLAN-DP presents with diverse motor, autonomic, and neuropsychiatric features and should be considered in the differential diagnosis of patients with young-onset neurodegenerative disorders
Yukawa textures from singular spectral data
No full text© 2021, The Author(s).The Yukawa textures of effective heterotic models are studied by using singular spectral data. One advantage of this approach is that it is possible to dissect the cohomologies of the bundles into smaller parts and identify the pieces that contain the zero modes, which can potentially have non-zero Yukawa couplings. Another advantage is the manifest relationship between the Yukawa textures in heterotic models and local F-theory models in terms of fields living in bulk or localized inside the 7-branes. We only work with Weierstrass elliptically fibered Calabi-Yau manifolds here. The idea for generalizing this approach to every elliptically fibered Calabi-Yau with rational sections is given at the end of this paper.11Nsciescopu
Intrafamilial variability and clinical heterogeneity in a family with PLA2G6-associated neurodegeneration
No full textHeterotic complex structure moduli stabilization for elliptically fibered Calabi-Yau manifolds
No full textHolomorphicity of vector bundles can stabilize complex structure moduli of a Calabi-Yau threefold in N = 1 supersymmetric heterotic compactifications. In principle, the Atiyah class determines the stabilized moduli. In this paper, we study how this mechanism works in the context of elliptically fibered Calabi-Yau manifolds where the complex structure moduli space contains two kinds of moduli, those from the base and those from the fibration. Defining the bundle with spectral data, we find three types of situations when bundles' holomorphicity depends on algebraic cycles exist only for special loci in the complex structure moduli, which allows us to stabilize both of these two moduli. We present concrete examples for each type and develop practical tools to analyze the stabilized moduli. Finally, by checking the holomorphicity of the four-flux and/or local Higgs bundle data in F-theory, we briefly study the dual complex structure moduli stabilization scenarios.11Nsciescopu
SCOURING AT BRIDGES PIERS UNDER UNSTEADY FLOW CONDITION AND ARMORED BEDS USING ANFIS AND OPTIMIZATION ALGORITHMS
No full textSeveral studies have been performed to study the scouring depth at bridge
piers. Due to the complication of the problem and variety of the hydraulic and
geometric parameters affecting the scouring phenomena, a generalized
relationship has not been presented yet. Therefore, adaptive neuro-fuzzy
inference system (ANFIS) is an alternative to overcome these problems. This
approach is an effective tool to provide the hydraulic engineers, precise estimation of the scouring depth around the bridge piers. Although a large number of former studies have just focused on scouring at bridge piers under steady flow condition and uniform-graded bed materials even by applying ANFIS model, a lack of studies exists on scouring under unsteady flood flow condition as well as for non-uniform bed materials. Generally, river beds are composed mainly of non-uniform materials. Motion of the finer sediment particles initiates results in the protective effect of greater particles, namely armoring effect on the bed surface, thereby eliminating further erosion of the bed. Furthermore, in most of the rivers the flow regime is commonly unsteady. During a flood, the maximum scouring depth regarding to the peak of the flood hydrograph would be smaller than the equilibrium scouring depth which is commonly estimated using a constant flow discharge. When the flow unsteadiness is pronounced, the difference between the maximum scouring depth and the equilibrium scouring depth is quite substantial and thus should be addressed.In the present study, armoring effect on local scouring under unsteady flow condition was investigated based on a comprehensive dataset collected by different former investigators using ANFIS model. For this purpose, two different models were constructed. The first model was based on 372 dataset collected in a practical study on different bridges in USA. Measurements were conducted under steady flow condition. The second model was developed for estimating the maximum scouring depth in the beds of uniform and armored materials under unsteady flow condition. To present a more accurate model, some strategies including; reduction of dimension and detection of outlier were used to improve the performance of calculations. Genetic algorithm and particle swarm optimization methods were applied to develop a novel hybrid learning algorithm for ANFIS model. The new hybrid learning algorithm train the
antecedent part of the fuzzy rules. Then the least square method was applied
for training the conclusion part of the rules. It was shown that ANFIS model
gives more accurate results compared to the empirical equations. Results
highlighted the effectiveness of the data on the estimations of ANFIS model.
Furthermore, according to the results, this approach is potentially able to train the ANFIS model in both steady and unsteady flow conditions
Voice Handicap Index (VHI) in Persian Speaking Parkinson\'s Disease Patients
No full textObjectives: “Voice” is affected more and sooner than other speech subsystems in Parkinson's Disease (PD). Voice Handicap Index (VHI) is the most applicable subjective self-rating questionnaire in VD patients. The aim of this study was the investigation of Voice handicap in Iranian PD patients.
Methods & Materials: This cross-sectional, analytical and non-interventional study was done on 50 (35 males, 15 females) patients who reported a VD related to their PD. They were selected from thepatients referring to movement disorders’ clinic in Rasool Akram Hospital affiliated withTehran University of medical sciences, through easy sampling. VHI total score (VHIT) and its domains (functional-VHIF, Emotional VHIE, Physical VHIP) was assessed in all of participants and by gender segregation.
Results: 83% of patients reported voice handicap. There wasn't any difference between VHIT and its mentioned 3 domains in both sexes. There is positive correlation between VHIT, VHIE and VHIF with age. VHIT and VHIF had a positive relationship with disease duration (DD). The males VHIT and the mentioned domains had positive correlations with DD.
Conclusion: Most of Iranian PD patients feel handicap due to voice disorder caused by PD and their quality of life was affected by voice impairment. Increase in age and disease duration caused more voice disorder and reduced quality of life especially patients feel more handicaps in functional domain (VHIF). In addition, the males feel more handicap than females when DD develops
Evaluation of Vasomotor Reactivity by Transcranial Doppler Sonography: Age and Sex Related Differences in Breath Holding Index in Iranian Population
No full textBackground: The assessment of cerebral vasoreactivity can provide information regarding the reserve capacity of cerebral circulation. Reduction of this property has been found in association with situations predisposing one toward cerebrovascular disease. In this study, we defined the vasoreactivity of brain vesseles according to age and sex of the patients. Methods: In this descriptive study, 289 healthy subjects (without hypertension, diabetes mellitus, obesity, smoking, CHF, CHD,) were admitted from January 2004 to June 2004. The population was divided to four groups, according to age and sex (women and men more and less than 30). After determination of each patient’s flow velocity of middle cerebral artery (MCA) by mean of a transcranial doppler instrument (TCD), before and after 30s apnea, breath holding index (BHI) was calculated. Data was analyzed, using SPSS software. Results: BHI was significantly higher in women than men (0.918±0.40 versus 0.637±0.22; P<0.001). BHI was significantly lower in older (age > 30 ) women (0.812±0.31) than in younger ( ≤ 30 years ) women (0.995±0.44; P<0.001) but there was no significant difference between older (age > 30 ) men (0.62±0.23 ) and younger ( ≤ 30 years ) men (0.65±0.20; P > 0.05). Conclusion: The average of BHI was lower in men than in women in total and in all age subgroups. BHI was relatively constant in all age subgroups in men but there was significant decline in BHI by increasing age in women. So despite of many physiologic changes related to aging, vasomotor reactivity remains relatively constant in men but decreases in women. Findings of our study suggest that changes of cerebrovascular vasomotor reactivity in healthy subjects may be related to aging, but they are probably mainly influenced by sex. Keywords: vasomotor reactivity, BHI, TC
Relationship Between Voice and Motor Disabilities of Parkinson's Disease
No full textTo evaluate voice of Iranian patients with Parkinson's disease (PD) and find any relationship between motor disabilities and acoustic voice parameters as speech motor components. We evaluated 27 Farsi-speaking PD patients and 21 age- and sex-matched healthy persons as control. Motor performance was assessed by the Unified Parkinson's Disease Rating Scale part III and Hoehn and Yahr rating scale in the �on� state. Acoustic voice evaluation, including fundamental frequency (f0), standard deviation of f0, minimum of f0, maximum of f0, shimmer, jitter, and harmonic to noise ratio, was done using the Praat software via /a/ prolongation. No difference was seen between the voice of the patients and the voice of the controls. f0 and its variation had a significant correlation with the duration of the disease, but did not have any relationships with the Unified Parkinson's Disease Rating Scale part III. Only limited relationship was observed between voice and motor disabilities. Tremor is an important main feature of PD that affects motor and phonation systems. Females had an older age at onset, more prolonged disease, and more severe motor disabilities (not statistically significant), but phonation disorders were more frequent in males and showed more relationship with severity of motor disabilities. Voice is affected by PD earlier than many other motor components and is more sensitive to disease progression. Tremor is the most effective part of PD that impacts voice. PD has more effect on voice of male versus female patients. © 2016 The Voice Foundatio
