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Clinical and Imaging Profile of Patients with Joubert Syndrome
Bharath Kumar Surisetti,Vikram Venkappayya Holla,Shweta Prasad,Koti Neeraja,Nitish Kamble,Ravi Yadav,Pramod Kumar Pal 대한파킨슨병및이상운동질환학회 2021 Journal Of Movement Disorders Vol.14 No.3
Nine patients were included in the study. All patients had facial dysmorphism and ocular abnormalities, and 4 patients had dystonia. Ocular tilt reaction and alternate skew deviation (66%) were the most common ocular abnormalities. Horizontally aligned superior cerebellar peduncles were observed in all four patients with diffusion tensor imaging, with a lack of decussation in three. Exome sequencing performed in four patients revealed novel variants in the MKS1, CPLANE1, and PIBF1 genes.
Movement Disorders Associated With Radiotherapy and Surgical Procedures
Bharath Kumar Surisetti,Shweta Prasad,Pramod Kumar Pal 대한파킨슨병및이상운동질환학회 2023 Journal Of Movement Disorders Vol.16 No.1
Occasionally, movement disorders can occur following interventional procedures including but not limited to radiotherapy, dental procedures, and cardiac, cerebral and spinal surgeries. The majority of these disorders tend to be unexpected sequelae with variable phenomenology and latency, and they can often be far more disabling than the primary disease for which the procedure was performed. Owing to poor knowledge and awareness of the problem, delays in diagnosing the condition are common, as are misdiagnoses as functional movement disorders. This narrative review discusses the phenomenology, pathophysiology, and potential treatments of various movement disorders caused by interventional procedures such as radiotherapy and neurological and non-neurological surgeries and procedures.
Levodopa-Associated Barking Vocalizations
Shweta Prasad,Pramod Kumar Pal 대한파킨슨병및이상운동질환학회 2021 Journal Of Movement Disorders Vol.14 No.2
Involuntary vocalizations include a wide spectrum of soundsassociated with physiological responses such as coughing orsneezing, emotional responses such as laughing or crying, andeven the utterance of words that have a specific intended meaning. 1 These are often associated with Tourette’s syndrome andother tic disorders.
Myoclonus-Dystonic Presentation of Childhood Onset DYT-GCH1: A Report From India
Praveen Sharma,Pramod Kumar Pal 대한파킨슨병및이상운동질환학회 2023 Journal Of Movement Disorders Vol.16 No.1
GTP cyclohydrolase-1 (GCH1)-deficient dystonia (DYT-GCH1/DYT5) is an autosomal-dominant dopa-responsive dystonia (DRD) of childhood onset typically presenting with foot dystonia progressing to generalized dystonia and parkinsonism with diurnal fluctuation and a dramatic and persistent response to levodopa (LD)
Long-Term Outcome of Hemimasticatory Spasm
Somdattaa Ray,Pramod Kumar Pal 대한파킨슨병및이상운동질환학회 2022 Journal Of Movement Disorders Vol.15 No.2
This study aims to identify the demographic, clinical, and therapeutic characteristics of four patients with hemimasticatory spasm (HMS) seen in our outpatient department over a period of 20 years.
Dystonic Opisthotonus in Kufor-Rakeb Syndrome: Expanding the Phenotypic and Genotypic Spectrum
Sandeep Gurram,Pramod Kumar Pal 대한파킨슨병및이상운동질환학회 2023 Journal Of Movement Disorders Vol.16 No.3
This syndrome is clinically characterized by juvenile-onset parkinsonism, supranuclear upgaze palsy, cognitive decline, pyramidal signs, visual hallucinations, oculogyric crisis, facial-faucial-finger mini myoclonus and dystonia in various combinations
KMT2B-Related Dystonia in Indian Patients With Literature Review and Emphasis on Asian Cohort
Debjyoti Dhar,Pramod Kumar Pal 대한파킨슨병및이상운동질환학회 2023 Journal Of Movement Disorders Vol.16 No.3
Mutations in the KMT2B gene have been identified in patients previously diagnosed with idiopathic dystonia. Literature on KMT2B-related dystonia is sparse in the Indian and Asian populations.
Treatable Ataxias: How to Find the Needle in the Haystack?
Albert Stezin,Pramod Kumar Pal 대한파킨슨병및이상운동질환학회 2022 Journal Of Movement Disorders Vol.15 No.3
Treatable ataxias are a group of ataxic disorders with specific treatments. These disorders include genetic and metabolic disorders, immune-mediated ataxic disorders, and ataxic disorders associated with infectious and parainfectious etiology, vascular causes, toxins and chemicals, and endocrinopathies. This review provides a comprehensive overview of different treatable ataxias. The major metabolic and genetic treatable ataxic disorders include ataxia with vitamin E deficiency, abetalipoproteinemia, cerebrotendinous xanthomatosis, Niemann-Pick disease type C, autosomal recessive cerebellar ataxia due to coenzyme Q10 deficiency, glucose transporter type 1 deficiency, and episodic ataxia type 2. The treatment of these disorders includes the replacement of deficient cofactors and vitamins, dietary modifications, and other specific treatments.
Banerjee, Debapriya,Verma, Pramod Kumar,Pal, Samir Kumar Korean Society of Photoscience 2009 Photochemical & photobiological sciences Vol.8 No.10
The influence of ion dissolution in water is still controversial. The challenge posed to the existing concept of dissolved ions acting as water structure makers and structure breakers through recent studies calls for more experimental evidence. The temperature-dependent relaxation dynamics of water in bulk and in ionic salt solutions can give an idea about the hydrogen-bonded network and hence the perturbation induced in the tetrahedral structure of bulk water subsequent to ion dissolution. In our study, the temperature dependence of the observed relaxation dynamics in bulk water and guanidinium hydrochloride reveals the activation energy needed to convert water from hydrogen bonded to the free forms and hence the difference in the hydrogen-bonded network in the close vicinity of the probe molecule. The results might prove helpful to understand the interaction of hydrophobic amino acid residues with guanidinium hydrochloride during protein denaturation.
Utility of Clinical Exome Sequencing in Dystonia: A Single-Center Study From India
Vikram Venkappayya Holla,Pramod Kumar Pal 대한파킨슨병및이상운동질환학회 2022 Journal Of Movement Disorders Vol.15 No.2
With the use of next-generation sequencing in clinical practice, several genetic etiologies of dystonia have been identified. This study aimed to ascertain the utility of clinical exome sequencing (CES) in dystonia and factors suggestive of a genetic etiology.