Drug Utilization Pattern in Patients with Different Types of Dementia in Western India

Background. Dementia is one of the most frequent disorders among elderly patients, reaching to epidemic proportions with an estimated 4.6 million new cases globally annually. Partially effective treatments are available for dementia. Aims & Objectives. We aim to study drugs used in dementia and find out frequency of types of Dementia. Method. This was an observational study conducted at rurally based tertiary care hospital. Prospective data was collected from outpatient department, while retrospective data was collected from medical records. Descriptive statistics were used to analyze data. Result. Total 125 prescriptions of patients diagnosed with dementia were analyzed. Alzheimer’s dementia was most common (65.6%), followed by vascular dementia (21.6%), and frontotemporal dementia (10.4%), with the rarest being Lewy body dementia in (2.4%) cases. 60.57% of patients were males. Mini Mental Score Examination mean score was 15.93 ± 1.37. Frontal Battery Assessment mean score was 4.75 ± 1.01. Prescribed drugs were Donepezil (68.49%), Rivastigmine (13.63%), Donepezil + Memantine (6.43%) and Galantamine (12.83%), Quetiapine (38.46%), Lorazepam (23.07%), Clozapine (11.53%), Escitalopram (10.25%), Haloperidol (3.84%), Zolpidem, Sertraline, Olanzepine (2.56%), Nitrazepine, Lamotrigine, Fluoxetine, Tianeptine (1.28%), Folic acid, and Vitamin B12, respectively. Conclusion. Alzheimer’s is the most common type of dementia while Donepezil was the most frequent drug

Epidemiologic Disparities and Challenges in Non-parkinsonian Tremor Disorders Research: A Scoping Review Emphasizing the Indian Context

Non-parkinsonian tremors represent a heterogeneous spectrum of movement disorders where knowledge gaps persist regarding epidemiology, pathophysiology, and clinical burden. This scoping review aimed to systematically consolidate literature on these disorders in India across the domains of prevalence, biological mechanisms, psychiatric comorbidity, disability impact, and quality of life. A systematic search was undertaken across databases to identify studies on non-parkinsonian tremors in India. Extracted data were synthesized descriptively under themes spanning reported prevalence estimates and variability, proposed biological processes, psychiatric symptom rates, stigma perceptions, and quality-of-life deficits. Methodological appraisal was undertaken. Twenty-nine studies reported prevalence estimates displaying wide variability from 0.09% to 22% for essential tremor, partly attributable to definitional inconsistencies. Proposed pathologic processes centered on cerebellar dysfunction, neurotransmitter disturbances, and genetic risks. Nine studies revealed variable anxiety (6.8%–90%) and depression (3.4%–60%) rates among essential tremor patients, while two indicated perceived stigma. Five studies unanimously concurred significant quality of life impairment in essential tremors. Evidence of dystonic tremor, functional tremor, and other tremors was limited. This review exposed critical knowledge gaps and methodological limitations, while systematically evaluating the Indian literature on non-parkinsonian tremors concerning epidemiology, mechanisms, and clinical burden. Large-scale collaborative research applying standardized diagnostic criteria is imperative to determine contemporary prevalence statistics and comprehensively characterize the multifaceted disability footprint to inform patient-centric models optimizing diagnosis and holistic care

An unusual cause of headache in a medical tourist

With booming medical tourism, Indian doctors are seeing a lot of patients from other countries for varied medical conditions. A citizen of Nairobi presented for treatment of his complaints consisting of severe episodic headache, with abdominal pain, spermatorrhea, decreased libido, constipation, and impotence. On detailed evaluation, he was found to have developed dependence to khat chewing; a social habit in his native country and his symptoms were attributed to effects of khat withdrawal. He improved after treatment with topiramate and escitalopram and lifestyle modification. Physicians need to be aware about various cultural habits of addiction in different parts of the world and their common presentations in view of globalization of health care

Dosage changes of MED13L further delineate its role in congenital heart defects and intellectual disability

A chromosomal balanced translocation disrupting the MED13L (Mediator complex subunit13-like) gene, encoding a subunit of the Mediator complex, was previously associated with transposition of the great arteries (TGA) and intellectual disability (ID), and led to the identification of missense mutations in three patients with isolated TGA. Recently, a homozygous missense mutation in MED13L was found in two siblings with non-syndromic ID from a consanguineous family. Here, we describe for the first time, three patients with copy number changes affecting MED13L and delineate a recognizable MED13L haploinsufficiency syndrome. Using high resolution molecular karyotyping, we identified two intragenic de novo frameshift deletions, likely resulting in haploinsufficiency, in two patients with a similar phenotype of hypotonia, moderate ID, conotruncal heart defect and facial anomalies. In both, Sanger sequencing of MED13L did not reveal any pathogenic mutation and exome sequencing in one patient showed no evidence for a non-allelic second hit. A further patient with hypotonia, learning difficulties and perimembranous VSD showed a 1 Mb de novo triplication in 12q24.2, including MED13L and MAP1LC3B2. Our findings show that MED13L haploinsufficiency in contrast to the previously observed missense mutations cause a distinct syndromic phenotype. Additionally, a MED13L copy number gain results in a milder phenotype. The clinical features suggesting a neurocristopathy may be explained by animal model studies indicating involvement of the Mediator complex subunit 13 in neural crest induction