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Myoclonus-Dystonic Presentation of Childhood Onset DYT-GCH1: A Report From India

Sharma P, Holla VV, Gurram S, Kamble N, Yadav R, Pal PK

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Dystonic Opisthotonus in Kufor-Rakeb Syndrome: Expanding the Phenotypic and Genotypic Spectrum

Gurram S, Holla VV, Kumari R, Dhar D, Kamble N, Yadav R, Muthusamy B, Pal PK

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Movement Disorders Associated With Radiotherapy and Surgical Procedures

Surisetti BK, Prasad S, Holla VV, Kamble N, Yadav R, Pal PK

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...
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Long-Term Outcome of Hemimasticatory Spasm

Ray S, Kamble N, Yadav R, Pal PK

Objective 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. Methods...
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Sialidosis Type I without a Cherry Red Spot— Is There a Genetic Basis?

Neeraja K, Holla VV, Prasad S, Surisetti BK, Rakesh K, Kamble N, Yadav R, Pal PK

Sialidosis is an inborn error of metabolism due to a defect in the NEU1 gene and manifests as two phenotypes: mild type I and severe type II. The cherry red...
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Utility of Clinical Exome Sequencing in Dystonia: A Single-Center Study From India

Holla VV, Neeraja K, Stezin A, Prasad S, Surisetti BK, Netravathi M, Kamble N, Yadav R, Pal PK

Objective 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)...
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Clinical and Imaging Profile of Patients with Joubert Syndrome

Surisetti BK, Holla VV, Prasad S, Neeraja K, Kamble N, Yadav R, Pal PK

Objective Joubert syndrome (JS) is a rare syndrome characterized by ataxia and the molar tooth sign (MTS) on imaging. The present study aims to explore the clinical and radiological features...
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Knowledge, Attitude, and Perceptions about Deep Brain Stimulation for Parkinson’s Disease: Observations from a Single Indian Center

Prasad S, Bhattacharya A, Sahoo LK, Batra D, Kamble N, Yadav R, Srinivas D, Pal PK

Objective Willingness to undergo deep brain stimulation (DBS) among patients with Parkinson’s disease (PD) and their overall satisfaction with the procedure is highly dependent upon expectations, which are based on...
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Phonatory Characteristics of Male Patients with Classic Essential Tremor

Akkunje PS, Yamini BK, Yadav R, Shivashankar N, Malo PK, Thennarasu K, Hegde S, Pal PK

Objective Voice tremor (VT) is one of the characteristics of essential tremor (ET). This study was designed to describe the group and phonatory characteristics of classic ET patients with VT. Methods...
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Deep Brain Stimulation Battery Exhaustion during the COVID-19 Pandemic: Crisis within a Crisis

Holla VV, Neeraja K, Surisetti BK, Prasad S, Kamble N, Srinivas D, Yadav R, Pal PK

Objective The novel coronavirus disease (COVID-19) pandemic and public health measures to control it have resulted in unique challenges in the management of patients with deep brain stimulation (DBS). We...
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Patient Knowledge, Attitude and Perceptions towards Botulinum Toxin Treatment for Movement Disorders in India

Mol TN, Kamble N, Holla VV, Mahale R, Pal PK, Yadav R

Objective There is limited literature on the knowledge, attitude, and perceptions (KAP) of botulinum toxin (BoNT) treatment among patients and caregivers. The objective of this study was to assess the...
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Metastatic Neuroendocrine Tumour in a Renal Transplant Recipient: Dual-Tracer PET-CT with 18F-FDG and 68Ga-DOTANOC in This Rare Setting

Karunanithi S, Roy SG, Sharma P, Yadav R, Bal C, Kumar R

Recipients of renal transplant are at increased risk of developing various malignancies, especially post-transplant lymphoproliferative disorder (PTLD) and skin cancers. Neuroendocrine tumours (NET) of the gastrointestinal tract have not been...
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The Non-Motor Symptom Profile of Progressive Supranuclear Palsy

Chaithra SP, Prasad S, Holla VV, Stezin A, Kamble N, Yadav R, Pal PK

Objective Non-motor symptoms (NMSs) significantly contribute to increased morbidity and poor quality of life in patients with parkinsonian disorders. This study aims to explore the profile of NMSs in patients...
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Autoimmune Sclerosing Cholangitis in Children: A Prospective Case-Control Study

Kumar N, Poddar U, Yadav R, Lal H, Pani K, Yachha SK, Srivastava A, Pandey R

Purpose: In children overlap of autoimmune hepatitis (AIH) and primary sclerosing cholangitis is labelled as autoimmune sclerosing cholangitis (ASC). The only prospective pediatric study showed a high prevalence of ASC...
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Serum Adipocytokines Levels and Their Association with Insulin Sensitivity in Morbidly Obese Individuals Undergoing Bariatric Surgery

Sachan A, Singh A, Shukla S, Aggarwal S, Mir I, Yadav R

Background: Obese adipose tissue secretes a variety of adipocytokines that act as metabolic regulators with complex mechanisms. Our objective was to compare serum concentration of a panel of adipocytokines between...
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A prospective study evaluating impact on renal function following percutaneous nephrolithotomy using Tc99m ethylenedicysteine renal scan: Does multiplicity of access tracts play a role?

Yadav R, Agarwal S, Sankhwar S, Goel A, Kumar M, Singh M, Aeron R, Kumar V

PURPOSE: A prospective study evaluating impact of percutaneous nephrolithotomy (PCNL) on renal function following PCNL using ethylenedicysteine (EC) renal scan. Does multiplicity of access tracts play a role? MATERIALS AND METHODS:...
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KMT2B-Related Dystonia in Indian Patients With Literature Review and Emphasis on Asian Cohort

Dhar D, Holla VV, Kumari R, Sriram N, Saini J, Yadav R, Pandey A, Kamble N, Muthusamy B, Pal PK

ObjectiveaaMutations 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. MethodsaaWe report seven patients...
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Quantitative histology-based classification system for assessment of the intestinal mucosal histological changes in patients with celiac disease

Das P, Gahlot GP, Singh A, Baloda V, Rawat R, Verma AK, Khanna G, Roy M, George A, Singh A, Nalwa A, Ramteke P, Yadav R, Ahuja V, Sreenivas , Gupta SD, Makharia G

BACKGROUND/AIMS: The existing histological classifications for the interpretation of small intestinal biopsies are based on qualitative parameters with high intraobserver and interobserver variations. We have developed and propose a quantitative...
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