Search

Byline: Madhu. Nagappa, Shivani. Sharma, Periyasamy. Govindaraj, Yasha. Chickabasaviah, Ramesh. Siram, Akhilesh. Shroti, Doniparthi. Seshagiri, Monojit. Debnath, Sanjib. Sinha, Parayil. Bindu, Arun. Taly Background: SH3TC2 variations lead to demyelinating recessive [...]

Byline: Shivani. Sharma, Periyasamy. Govindaraj, Yasha. Chickabasaviah, Ramesh. Siram, Akhilesh. Shroti, Doniparthi. Seshagiri, Monojit. Debnath, Parayil. Bindu, Arun. Taly, Madhu. Nagappa Background and Objectives: Charcot-Marie-Tooth (CMT) disease is the commonest [...]

Tropical ataxic neuropathy (TAN) is characterised by ataxic polyneuropathy, degeneration of the posterior columns and pyramidal tracts, optic atrophy, and sensorineural hearing loss. It has been attributed to nutritional/toxic etiologies, but evidence for the same has been equivocal. TAN shares common clinical features with inherited neuropathies and mitochondrial disorders, it may be hypothesised that genetic abnormalities may underlie the pathophysiology of TAN. This study aimed to establish evidence for mitochondrial dysfunction by adopting an integrated biochemical and multipronged genetic analysis. Patients (n = 65) with chronic progressive ataxic neuropathy with involvement of visual and/or auditory pathways underwent deep phenotyping, genetic studies including mitochondrial DNA (mtDNA) deletion analysis, mtDNA and clinical exome sequencing (CES), and respiratory chain complex (RCC) assay. The phenotypic characteristics included dysfunction of visual (n = 14), auditory (n = 12) and visual + auditory pathways (n = 29). Reduced RCC activity was present in 13 patients. Mitochondrial DNA deletions were noted in five patients. Sequencing of mtDNA (n = 45) identified a homoplasmic variant (MT-ND6) and a heteroplasmic variant (MT-COI) in one patient each. CES (n = 45) revealed 55 variants in nuclear genes that are associated with neuropathy (n = 27), deafness (n = 7), ataxia (n = 4), and mitochondrial phenotypes (n = 5) in 36 patients. This study provides preliminary evidence that TAN is associated with a spectrum of genetic abnormalities, including those associated with mitochondrial dysfunction, which is in contradistinction from the prevailing hypothesis that TAN is related to dietary toxins. Analysing the functional relevance of these genetic variants may improve the understanding of the pathogenesis of TAN. [ABSTRACT FROM AUTHOR]

Aim: To investigate impact of Yoga and Music Intervention on anxiety, stress, and depression levels of health care workers during the COVID-19 outbreak. Methods: This study was conducted to assess psychological responses of 240 healthcare workers during COVID-19 outbreak. We used Yoga and Music Intervention in normal and abnormal subjects based on Depression Anxiety and Stress Scale-42 (DASS-42). Results: Of all 209 participants, 105 (50.23%) had symptoms of depression (35.88%), anxiety (40.19), and stress (34.92%) alone or in combination. The data suggest that there is significant improvement in test scores after intervention. Majority of persons with abnormal score exhibited improved DASS-42 score on combined interventions of Yoga and music compared to control group. Even subjects without abnormalities on DASS-42 score also showed improved DASS-42 scores in intervention (n = 52) group compared to nonintervention (n = 52) group. Conclusions: Our findings highlighted the significance of easily available, simple, inexpensive, safe nonpharmacological interventions like Yoga and Music therapy to overcome stress, anxiety, and depression in present times. [ABSTRACT FROM AUTHOR]

Background and objective: Osmotic demyelination syndrome (ODS) refers to a spectrum of clinicoradiologic syndrome which occurs due to pontine and extrapontine involvement due to myelinolysis. It is well described in association with rapid correction of hyponatremia and in alcoholics. In this case series, we have reviewed clinical presentation, neuroimaging features, and clinical outcomes of five patients diagnosed with ODS. Methods: The hospital medical records of all patients diagnosed with ODS between September 2018 and May 2020 at our hospital were analyzed retrospectively. Patients’ relevant clinical details and laboratory findings were recorded and magnetic resonance imaging (MRI brain) was reviewed. Those cases having imaging or clinical picture not clearly consistent with diagnosis were excluded. Results: Patients included in the study were 49 to 69 years old. All patients were treated as a case of hyponatremic encephalopathy in local hospitals. All patients had initial improvement followed by neurologic deterioration for which they were referred to our hospital. Possible etiologies of hyponatremia were recurrent vomiting and diuretic induced in two patients each and alcohol induced in one patient. Three out of five patients showed isolated extrapontine involvement on MRI. All patients showed improvement on dopaminergic drugs, whereas one patient had residual pseudobulbar symptoms which improved on follow-up. Conclusion: This series represents cases with clinical, etiopathogenic and radiologic spectrum of the ODS. ODS is a potentially treatable condition and rewarding results can be obtained by prompt diagnosis and management of associated secondary complications. [ABSTRACT FROM AUTHOR]