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1.
Neurol India ; 71(3): 463-466, 2023.
Article in English | MEDLINE | ID: mdl-37322741

ABSTRACT

Background and Objective: Few dating back, the role of visual evoked potentials changes and reduced level of intracellular magnesium have appeared in migraine patients both throughout the attacks and in the interictal periods. Moreover, there is a lack of evidence regarding the correlation between magnesium levels and visual evoked potentials. To assess the changes in the levels of magnesium in migraineurs compared to a healthy control group is our prime intention. Also, to correlate serum magnesium levels with visual evoked potentials changes within the migraineurs is a secondary part of the study. Materials and Methods: After applying inclusion and exclusion criteria as per the study protocol, in total, 80 subjects were enrolled in the study. Of which 40 were migraineurs diagnosed as per the International Headache Society criteria for severe migraine headache. Rest of 40 was nonmigraineurs served as a control group of the study. All included patient was submitted to demographic profile, previous history of the disease and drug intake, thorough clinical investigation and baseline laboratory parameters. Apart from this, the measurement of visual evoked potentials changes (4th block) and magnesium levels were done as per our standard operating procedures. Results: In migraineurs, serum total Mg level was considerably lower compared to the control group (1.79 ± 0.14 mg/dl versus 2.10 ± 0.17 mg/dl, P < 0.0001) and amplitude of P100 (P < 0.0001) was negatively correlated to reduced serum Mg level (P < 0.0001). Conclusions: As expected, both elevated visual evoked potential amplitude and reduced level of brain magnesium can be a demonstration of neuronal hyperexcitability of the optic pathways associated with a dropped threshold for migraine attacks.


Subject(s)
Evoked Potentials, Visual , Migraine Disorders , Humans , Magnesium , Migraine Disorders/diagnosis , Headache , Brain
2.
Clin Genet ; 100(5): 542-550, 2021 11.
Article in English | MEDLINE | ID: mdl-34302356

ABSTRACT

Genetic disorders with predominant central nervous system white matter abnormalities (CNS WMAs), also called leukodystrophies, are heterogeneous entities. We ascertained 117 individuals with CNS WMAs from 104 unrelated families. Targeted genetic testing was carried out in 16 families and 13 of them received a diagnosis. Chromosomal microarray (CMA) was performed for three families and one received a diagnosis. Mendeliome sequencing was used for testing 11 families and all received a diagnosis. Whole exome sequencing (WES) was performed in 80 families and was diagnostic in 52 (65%). Singleton WES was diagnostic for 50/75 (66.67%) families. Overall, genetic diagnoses were obtained in 77 families (74.03%). Twenty-two of 47 distinct disorders observed in this cohort have not been reported in Indian individuals previously. Notably, disorders of nuclear mitochondrial pathology were most frequent (9 disorders in 20 families). Thirty-seven of 75 (49.33%) disease-causing variants are novel. To sum up, the present cohort describes the phenotypic and genotypic spectrum of genetic disorders with CNS WMAs in our population. It demonstrates WES, especially singleton WES, as an efficient tool in the diagnosis of these heterogeneous entities. It also highlights possible founder events and recurrent disease-causing variants in our population and their implications on the testing strategy.


Subject(s)
Genetic Association Studies , Genetic Predisposition to Disease , Nervous System Malformations/diagnosis , Nervous System Malformations/genetics , White Matter/abnormalities , Alleles , Chromosome Aberrations , Consanguinity , Family , Genetic Association Studies/methods , Genetic Testing , Humans , India/epidemiology , Microarray Analysis , Mutation , Nervous System Malformations/epidemiology , Exome Sequencing
3.
Ann Neurosci ; 27(3-4): 232-241, 2020 Jul.
Article in English | MEDLINE | ID: mdl-34556964

ABSTRACT

Abstract. BACKGROUND: Reduced respiratory muscle strength leads to reduced pulmonary function, chest wall movements in the affected side, and increased chest infections, which thereby reduces oxygenation and ventilation. Respiratory muscle training can be used in acute stroke subjects to increase their pulmonary function. PURPOSE: To compare the short-term effects of diaphragmatic breathing exercise, flow, and volume-oriented incentive spirometry on respiratory function following stroke. METHODS: A non-randomized hospital-based study was conducted at Kasturba Medical College Hospitals, Mangalore, India. Forty-two sub-acute subjects of either gender, with the first episode of stroke within six months, were assigned to three groups by the consultant, i.e., diaphragmatic breathing group (DBE), Flow oriented-incentive spirometry group (FIS), and volume oriented-incentive spirometry group (VIS; N = 14) each. All subjects received intervention thrice daily, along with conventional stroke rehabilitation protocols throughout the study period. Pre- and post-intervention values were taken on alternate days until day 5 for all the three groups. RESULTS: The pulmonary function and maximal respiratory pressures were found to be significantly increased by the end of intervention in all three groups, but FIS and DBE groups had better results than VIS (FVC = FIS group, 13.71%; VIS group, 14.89%; DBE group, 21.27%, FEV1 = FIS group, 25.97%; VIS group, 22.52%; DBE group, 19.38%, PEFR = FIS group, 38.76%; VIS group,9.75%; DBE group, 33.16%, MIP = FIS group, 28.23%; VIS group, 19.36%; DBE group, 52.14%, MEP = FIS group, 43.00%; VIS group, 22.80%; DBE group, 28.68%). CONCLUSION: Even though all interventions had positive outcomes in all variables, flow incentive spirometry had better results across all outcomes (pulmonary function and maximal respiratory pressures) when compared to the other two interventions making it a valuable tool for stroke rehabilitation.

7.
J Clin Imaging Sci ; 4: 76, 2014.
Article in English | MEDLINE | ID: mdl-25806134

ABSTRACT

Eosinophilic meningitis may be caused by non-infectious and infectious agents. Angiostrongylus cantonensis is the commonest causative agent of eosinophilic meningitis. Rats are the primary hosts of this parasite. Humans get infected by ingestion of raw or inadequately cooked hosts (snails or monitor lizard) or food contaminated with the infective third-stage larvae. A 16-year-old boy was admitted to our hospital with history of fever, headache, and altered sensorium. Magnetic resonance imaging of the brain showed unique findings. Cerebrospinal fluid (CSF) examination showed eosinophilia and the CSF wet mount identified a larva. Patient history revealed ingestion of monitor lizard 2 weeks prior to onset of symptoms. Hence, a diagnosis of eosinophilic meningitis caused by A. cantonensis was made. He was treated with oral albendazole and steroids, resulting in gradual improvement. A. cantonensis as a cause of eosinophilic meningitis is a possibility in patients who present with headache and vomiting after eating raw meat (monitor lizard). To the best of our knowledge, this is a very rare case being reported from India where the larva was identified during the microscopic examination of the CSF.

8.
Ann Indian Acad Neurol ; 16(4): 572-6, 2013 Oct.
Article in English | MEDLINE | ID: mdl-24339582

ABSTRACT

BACKGROUND: In resource-poor settings, the management of neuromyelitis optica (NMO) and NMO spectrum (NMOS) disorders is limited because of delayed diagnosis and financial constraints. AIM: To device a cost-effective strategy for the management of NMO and related disorders in India. MATERIALS AND METHODS: A cost-effective and disease-specific protocol was used for evaluating the course and treatment outcome of 70 consecutive patients. RESULTS: Forty-five patients (65%) had a relapse from the onset and included NMO (n = 20), recurrent transverse myelitis (RTM; n = 10), and recurrent optic neuritis (ROPN; n = 15). In 38 (84.4%) patients presenting after multiple attacks, the diagnosis was made clinically. Only 7 patients with a relapsing course were seen at the onset and included ROPN (n = 5), NMO (n = 1), and RTM (n = 1). They had a second attack after a median interval of 1 ± 0.9 years, which was captured through our dedicated review process. Twenty-five patients had isolated longitudinally extensive transverse myelitis (LETM), of which 20 (80%) remained ambulant at follow-up of 3 ± 1.9 years. Twelve patients (17%) with median expanded disability status scale (EDSS) of 8.5 at entry had a fatal outcome. Serum NMO-IgG testing was done in selected patients, and it was positive in 7 of 18 patients (39%). Irrespective of the NMO-IgG status, the treatment compliant patients (44.4%) showed significant improvement in EDSS (P ≤ 0.001). CONCLUSIONS: Early clinical diagnosis and treatment compliance were important for good outcome. Isolated LETM was most likely a post-infectious demyelinating disorder in our set-up. NMO and NMOS disorders contributed to 14.9% (45/303) of all demyelinating disorders in our registry.

9.
J Clin Diagn Res ; 7(4): 734-5, 2013 Apr.
Article in English | MEDLINE | ID: mdl-23730662

ABSTRACT

Angiostrongylus cantonensis is one of the causative agents of eosinophilic meningitis. Humans get infected when they ingest raw or partially cooked snails or monitor lizards (Varanus bengalensis). There is a popular belief that the tongue and the liver of the monitor lizard has aphrodisiac properties. A 20-year-old man was admitted to our hospital with a history of fever, headache and vomiting. His cerebrospinal fluid revealed eosinophilia. He gave a history of the ingestion of a monitor lizard, ten days prior to the onset of the symptoms. So, a diagnosis of eosinophilic meningitis due to Angiostrongylus cantonensis was made. He was treated with oral albendazole and prednisolone. His symptoms improved gradually within two weeks from his admission.

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