Nutan Sharma
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View article: Cytogenetic abnormalities in pediatric acute lymphoblastic leukemia- retrospective study from a tertiary care center in Eastern India
Cytogenetic abnormalities in pediatric acute lymphoblastic leukemia- retrospective study from a tertiary care center in Eastern India Open
Introduction: Acute leukemia accounts for 80 % of cancers in children. Factors affecting survival include access to treatment, nutritional status, and inherent risk factors for the disease, such as age, immunophenotyping, total leucocyte c…
View article: Therapeutic targeting of alternative splicing caused by a lethal noncoding structural variant in X-linked dystonia parkinsonism
Therapeutic targeting of alternative splicing caused by a lethal noncoding structural variant in X-linked dystonia parkinsonism Open
X-linked Dystonia-Parkinsonism (XDP) is a lethal adult-onset neurodegenerative disorder that exhibits features of dystonia and parkinsonism and is exclusively associated with a causal founder haplotype that is indigenous to the Philippines…
View article: Evaluation of Patient Outcomes and Healthcare Accessibility via Telemedicine in Chronic Disease Management: A Qualitative Study
Evaluation of Patient Outcomes and Healthcare Accessibility via Telemedicine in Chronic Disease Management: A Qualitative Study Open
A BSTRACT Background: Telemedicine has revolutionized healthcare delivery, particularly for chronic disease management, by improving accessibility and patient outcomes. However, challenges related to technology and satisfaction persist. Ob…
View article: Driven by Data: Analyzing Price & Trends in the Used Car Market
Driven by Data: Analyzing Price & Trends in the Used Car Market Open
gearbox, and price. We found that prices can vary a lot, even for similar cars. For example, a 2014 Toyota Innova with high mileage can still cost more than a 2010 model. Luxury brands stay expensive, even when used more. A hypothesis was …
View article: Evaluating The Impact of CRM Systems on Enhancing Customer Satisfaction : A COMPREHENSIVE ANALYSIS
Evaluating The Impact of CRM Systems on Enhancing Customer Satisfaction : A COMPREHENSIVE ANALYSIS Open
In the current competitive business landscape, customer satisfaction has emerged as a crucial factor in determining an organization's success. Companies are increasingly relying on CRM systems to optimize customer interactions, enhance ser…
View article: Effective Data Visualization Techniques for Business Decision-Makers
Effective Data Visualization Techniques for Business Decision-Makers Open
This paper examines how data visualization techniques enable decision-makers to make informed, accurate, and concise decisions, ultimately supporting businesses in their growth and enabling them to anticipate and proactively overcome probl…
View article: <i>MSH3</i> is a genetic modifier of somatic repeat instability in X-linked dystonia parkinsonism
<i>MSH3</i> is a genetic modifier of somatic repeat instability in X-linked dystonia parkinsonism Open
X-linked dystonia parkinsonism (XDP) is a progressive adult-onset neurogenerative disorder caused by the insertion of a SINE-VNTR-Alu (SVA) retrotransposon in TAF1 gene. One element of the SVA is a tandem polymorphic CCCTCT repeat tract wh…
View article: Social determinants of health and health-related quality of life in individuals with isolated dystonia
Social determinants of health and health-related quality of life in individuals with isolated dystonia Open
Background and objectives Dystonia is the third most common movement disorder. Motor and non-motor manifestations of dystonia may impact Health Related Quality of Life (HRQoL), with lower HRQoL scores compared to the healthy population. Pe…
View article: Blockchain in Health Care, Evolutionary or Revolutionary – An Evidence-Based Review
Blockchain in Health Care, Evolutionary or Revolutionary – An Evidence-Based Review Open
A BSTRACT Blockchain technology has emerged as a disruptive force with the potential to transform various industries, including healthcare. This review paper assesses the current evidence regarding the application of blockchain in healthca…
View article: <i>KMT2B</i>-related disorders: expansion of the phenotypic spectrum and long-term efficacy of deep brain stimulation.
<i>KMT2B</i>-related disorders: expansion of the phenotypic spectrum and long-term efficacy of deep brain stimulation. Open
Heterozygous mutations in KMT2B are associated with an early-onset, progressive and often complex dystonia (DYT28). Key characteristics of typical disease include focal motor features at disease presentation, evolving through a caudocrania…
View article: Sex Differences in Natural History and Health Outcomes Among Individuals With Tic Disorders
Sex Differences in Natural History and Health Outcomes Among Individuals With Tic Disorders Open
Female (vs male) participants with TS are less likely to be formally diagnosed, have later age at symptom onset, later age at diagnosis, and longer time-to-diagnosis. Female (vs male) participants with PMVT have an earlier age at symptom o…
View article: Anxiolytics: An In-Depth Review of Contemporary and Emerging Treatment Approaches
Anxiolytics: An In-Depth Review of Contemporary and Emerging Treatment Approaches Open
Anxiety is a prevalent global mental health condition, affecting approximately 350 million individuals worldwide, and remains a leading cause of disability. Despite its widespread impact, a significant proportion of individuals with anxiet…
View article: Efficacy and Safety of Sodium Oxybate in Isolated Focal Laryngeal Dystonia: A Phase <scp>IIb</scp> Double‐Blind Placebo‐Controlled Cross‐Over Randomized Clinical Trial
Efficacy and Safety of Sodium Oxybate in Isolated Focal Laryngeal Dystonia: A Phase <span>IIb</span> Double‐Blind Placebo‐Controlled Cross‐Over Randomized Clinical Trial Open
Objective To examine the efficacy and safety of sodium oxybate versus placebo in a phase IIb randomized double‐blind placebo‐controlled 2‐period cross‐over clinical trial in patients with isolated laryngeal dystonia (LD). Methods The study…
View article: Genetic Risk Factors in Isolated Dystonia Escape Genome‐Wide Association Studies
Genetic Risk Factors in Isolated Dystonia Escape Genome‐Wide Association Studies Open
Background Despite considerable heritability, previous smaller genome‐wide association studies (GWASs) have not identified any robust genetic risk factors for isolated dystonia. Objective The objective of this study was to perform a large‐…
View article: NAFLD-associated hepatocellular carcinoma (HCC) – A compelling case for repositioning of existing mTORc1 inhibitors
NAFLD-associated hepatocellular carcinoma (HCC) – A compelling case for repositioning of existing mTORc1 inhibitors Open
The increasing prevalence of non-alcoholic fatty liver disease (NAFLD) is a growing concern for the high incidence rate of hepatocellular carcinoma (HCC) globally. The progression of NAFLD to HCC is heterogeneous and non-linear, involving …
View article: Motor assessment of X-linked dystonia parkinsonism via machine-learning-based analysis of wearable sensor data
Motor assessment of X-linked dystonia parkinsonism via machine-learning-based analysis of wearable sensor data Open
X-linked dystonia parkinsonism (XDP) is a neurogenetic combined movement disorder involving both parkinsonism and dystonia. Complex, overlapping phenotypes result in difficulties in clinical rating scale assessment. We performed wearable s…
View article: Sex Differences in People with Tourette Syndrome and Persistent Motor or Vocal Tic Disorder in the Tourette Association of America International Consortium for Genetics Database
Sex Differences in People with Tourette Syndrome and Persistent Motor or Vocal Tic Disorder in the Tourette Association of America International Consortium for Genetics Database Open
Background and Objective Tourette Syndrome (TS) and Persistent Motor or Vocal Tic Disorders (PMVT) are more prevalent in males (vs. females). Females with TS may have a delay in diagnosis, and more complex tic features (vs. males). With re…
View article: Dysphagia is a risk factor of malnutrition in X-linked Dystonia-Parkinsonism
Dysphagia is a risk factor of malnutrition in X-linked Dystonia-Parkinsonism Open
Dysphagia, as measured using the EAT-10, was associated with BMI in the XDP population. Additionally, an EAT-10 total score ≥ 4 could predict malnutrition in twelve months after test administration. With these findings, healthcare provider…
View article: Clinical utility of homoeopathic medicine in treating non-alcoholic fatty liver disease by using bard score
Clinical utility of homoeopathic medicine in treating non-alcoholic fatty liver disease by using bard score Open
Currently known as metabolic dysfunction-associated steatotic liver disease (MASLD), non-alcoholic fatty liver disease (NAFLD) is the accumulation of excess fat in hepatic cells which is not caused due to the alcohol. A certain amount of f…