المؤلفون: Senthil Amudhan, Gopalkrishna Gururaj, Parthasarathy Satishchandra

المصدر: Annals of Indian Academy of Neurology, Vol 18, Iss 4, Pp 369-381 (2015)

مصطلحات موضوعية: Care, economic burden, epilepsy, India, national programs, prevention, psychosocial impact, rehabilitation, stigma, treatment gap, Neurology. Diseases of the nervous system, RC346-429

الوصف: Epilepsy is a common neurological disorder whose consequences are influenced socially and culturally, especially in India. This review (second of the two part series) was carried out to understand the social impact and economic burden to develop comprehensive program for control and prevention of epilepsy. Epilepsy is known to have adverse effect on education, employment, marriage, and other essential social opportunities. Economic burden associated with epilepsy is very high with treatment and travel costs emerging as an important contributing factor. A vicious cycle between economic burden and poor disease outcome is clear. There is no significant change in the perception, stigma, and discrimination of epilepsy across the country despite improvement in educational and social parameters over the time. The huge treatment gap and poor quality of life is further worsened by the associated comorbidities and conditions. Thus, a multidisciplinary response is needed to address the burden and impact of epilepsy which calls for an integrated and multipronged approach for epilepsy care, prevention, and rehabilitation. Service delivery, capacity building, integration into the existing program, mobilizing public support, and increasing public awareness will be the hallmarks of such an integrated approach in a public health model.

وصف الملف: electronic resource

العلاقة: http://www.annalsofian.org/article.asp?issn=0972-2327;year=2015;volume=18;issue=4;spage=369;epage=381;aulast=AmudhanTest; https://doaj.org/toc/0972-2327Test; https://doaj.org/toc/1998-3549Test

الوصول الحر: https://doaj.org/article/7a5eb63b85c44b6998f06eb6a05de7f3Test

المؤلفون: Parthasarathy Satishchandra, Gopalkrishna Gururaj, Senthil Amudhan

المصدر: Annals of Indian Academy of Neurology, Vol 18, Iss 4, Pp 369-381 (2015)
Annals of Indian Academy of Neurology

مصطلحات موضوعية: Gerontology, medicine.medical_specialty, Service delivery framework, medicine.medical_treatment, media_common.quotation_subject, India, Review Article, Care, lcsh:RC346-429, rehabilitation, Epilepsy, prevention, Multidisciplinary approach, Perception, medicine, Psychiatry, lcsh:Neurology. Diseases of the nervous system, media_common, psychosocial impact, Rehabilitation, treatment gap, business.industry, Public health, Social impact, Capacity building, medicine.disease, national programs, stigma, economic burden, epilepsy, Neurology (clinical), business

الوصف: Epilepsy is a common neurological disorder whose consequences are influenced socially and culturally, especially in India. This review (second of the two part series) was carried out to understand the social impact and economic burden to develop comprehensive program for control and prevention of epilepsy. Epilepsy is known to have adverse effect on education, employment, marriage, and other essential social opportunities. Economic burden associated with epilepsy is very high with treatment and travel costs emerging as an important contributing factor. A vicious cycle between economic burden and poor disease outcome is clear. There is no significant change in the perception, stigma, and discrimination of epilepsy across the country despite improvement in educational and social parameters over the time. The huge treatment gap and poor quality of life is further worsened by the associated comorbidities and conditions. Thus, a multidisciplinary response is needed to address the burden and impact of epilepsy which calls for an integrated and multipronged approach for epilepsy care, prevention, and rehabilitation. Service delivery, capacity building, integration into the existing program, mobilizing public support, and increasing public awareness will be the hallmarks of such an integrated approach in a public health model.

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::6f08f71f6cc9e94b15296bb2f7dff88dTest
http://www.annalsofian.org/article.asp?issn=0972-2327;year=2015;volume=18;issue=4;spage=369;epage=381;aulast=AmudhanTest

المؤلفون: Arun Kumar, Manish Kumar Dwivedi, Mohammed Faruq, Parthasarathy Satishchandra, Devaraddi Navalli, Renu Kumari, Paritosh Pandey, Saketh Kapoor, S. D. Roy, Anil Ramakrishna, Pushkar Dakle, Manjunath Netravathi, Pramod Kumar Pal, Jitender Saini

المصدر: BMC Medical Genetics

مصطلحات موضوعية: Male, Pathology, Case Report, Dextrocardia, Compound heterozygosity, Leukoencephalopathy, Leukoencephalopathies, Basic Helix-Loop-Helix Transcription Factors, Genetics(clinical), Exome, Central Nervous System Cysts, Child, Notch signaling, Genetics (clinical), Exome sequencing, Genetics, Receptors, Notch, Brain Neoplasms, Homozygote, Calcinosis, Genomics, Telomere, Autosomal recessive disease, Pedigree, Coats plus syndrome, Retinal telangiectasia, Phenotype, Bone marrow suppression, Muscle Spasticity, medicine.symptom, Signal Transduction, medicine.medical_specialty, Ataxia, Telomere-Binding Proteins, Mutation, Missense, India, Biology, Retinal Diseases, Seizures, medicine, Animals, Humans, Base Sequence, Whole exome sequencing, Sequence Analysis, DNA, medicine.disease, CRMCC, CTC1

الوصف: Background Coats plus syndrome is an autosomal recessive, pleiotropic, multisystem disorder characterized by retinal telangiectasia and exudates, intracranial calcification with leukoencephalopathy and brain cysts, osteopenia with predisposition to fractures, bone marrow suppression, gastrointestinal bleeding and portal hypertension. It is caused by compound heterozygous mutations in the CTC1 gene. Case presentation We encountered a case of an eight-year old boy from an Indian family with manifestations of Coats plus syndrome along with an unusual occurrence of dextrocardia and situs inversus. Targeted resequencing of the CTC1 gene as well as whole exome sequencing (WES) were conducted in this family to identify the causal variations. The identified candidate variations were screened in ethnicity matched healthy controls. The effect of CTC1 variation on telomere length was assessed using Southern blot. A novel homozygous missense mutation c.1451A > C (p.H484P) in exon 9 of the CTC1 gene and a rare 3′UTR known dbSNP variation (c.*556 T > C) in HES7 were identified as the plausible candidates associated with this complex phenotype of Coats plus and dextrocardia. This CTC1 variation was absent in the controls and we also observed a reduced telomere length in the affected individual’s DNA, suggesting its likely pathogenic nature. The reported p.H484P mutation is located in the N-terminal 700 amino acid regionthat is important for the binding of CTC1 to ssDNA through its two OB domains. WES data also showed a rare homozygous missense variation in the TEK gene in the affected individual. Both HES7 and TEK are targets of the Notch signaling pathway. Conclusions This is the first report of a genetically confirmed case of Coats plus syndrome from India. By means of WES, the genetic variations in this family with unique and rare complex phenotype could be traced effectively. We speculate the important role of Notch signaling in this complex phenotypic presentation of Coats plus syndrome and dextrocardia. The present finding will be useful for genetic diagnosis and carrier detection in the family and for other patients with similar disease manifestations. Electronic supplementary material The online version of this article (doi:10.1186/s12881-015-0151-8) contains supplementary material, which is available to authorized users.

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::5a343752f8c09bfc2610e2be00d0792dTest
https://doi.org/10.1186/s12881-015-0151-8Test

المؤلفون: Manjunath Netravathi, G. Anantaram, Sunil Govekar, N. Shobha, Pooja Mailankody, B. V. Ravikumar, Anita Mahadevan, Parthasarathy Satishchandra, S Nagarathna, Thennarasu Kandavel, Saini Jitender, Vydianathan Ravi, S K Shankar

المصدر: Journal of neurovirology. 19(3)

مصطلحات موضوعية: Adult, Central Nervous System, Male, medicine.medical_specialty, Pathology, Ataxia, Stereotactic biopsy, JC virus, India, HIV Infections, medicine.disease_cause, Leukoencephalopathy, Tertiary Care Centers, Cellular and Molecular Neuroscience, Virology, medicine, Demyelinating disease, Humans, Retrospective Studies, medicine.diagnostic_test, business.industry, Coinfection, Progressive multifocal leukoencephalopathy, Leukoencephalopathy, Progressive Multifocal, virus diseases, Retrospective cohort study, Middle Aged, medicine.disease, JC Virus, Neurology, HIV-1, Histopathology, Female, Neurology (clinical), medicine.symptom, business

الوصف: Progressive multifocal leukoencephalopathy (PML) is a rare, subacute, demyelinating disease of the central nervous system caused by JC virus. Studies of PML from HIV Clade C prevalent countries are scarce. We sought to study the clinical, neuroimaging, and pathological features of PML in HIV Clade C patients from India. This is a prospective cum retrospective study, conducted in a tertiary care Neurological referral center in India from Jan 2001 to May 2012. Diagnosis was considered “definite” (confirmed by histopathology or JCV PCR in CSF) or “probable” (confirmed by MRI brain). Fifty-five patients of PML were diagnosed between January 2001 and May 2012. Complete data was available in 38 patients [mean age 39 ± 8.9 years; duration of illness—82.1 ± 74.7 days). PML was prevalent in 2.8 % of the HIV cohort seen in our Institute. Hemiparesis was the commonest symptom (44.7 %), followed by ataxia (36.8 %). Definitive diagnosis was possible in 20 cases. Eighteen remained “probable” wherein MRI revealed multifocal, symmetric lesions, hypointense on T1, and hyperintense on T2/FLAIR. Stereotactic biopsy (n = 11) revealed demyelination, enlarged oligodendrocytes with intranuclear inclusions and astrocytosis. Immunohistochemistry revelaed the presence of JC viral antigen within oligodendroglial nuclei and astrocytic cytoplasm. No differences in clinical, radiological, or pathological features were evident from PML associated with HIV Clade B. Clinical suspicion of PML was entertained in only half of the patients. Hence, a high index of suspicion is essential for diagnosis. There are no significant differences between clinical, radiological, and pathological picture of PML between Indian and Western countries.

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::6a4998c1ed0935d052c93a52013c6383Test
https://pubmed.ncbi.nlm.nih.gov/23700233Test

المؤلفون: T. Asha, Parthasarathy Satishchandra, Jayant Acharya, Susarla K. Shankar

المصدر: Epilepsia. 34:476-487

مصطلحات موضوعية: Adult, Male, Pediatrics, medicine.medical_specialty, Pathology, Adolescent, India, Epilepsies, Myoclonic, Progressive myoclonus epilepsy, Epilepsy, Biopsy, medicine, Humans, Family, Child, Evoked Potentials, Inclusion Bodies, medicine.diagnostic_test, business.industry, Brain biopsy, Brain, Electroencephalography, medicine.disease, Pedigree, medicine.anatomical_structure, Liver, Neurology, Somatosensory evoked potential, Scalp, Liver biopsy, Female, Neurology (clinical), medicine.symptom, business, Myoclonus

الوصف: Twenty-one cases (12 males, 9 females) of Lafora's disease in 16 families were studied at the National Institute of Mental Health and Neuro Sciences (NIMHANS), Bangalore, India, from 1982 to 1990. Mean age of onset was 13.5 years (range 9.5-18 years). First symptom was generalized tonic-clonic seizure (17), myoclonus (3), or dementia (1). All patients eventually developed the classical triad, except 1 who has had only myoclonus. Seven had occipital seizures. Other signs included behavioral changes (9), brisk tendon reflexes (11), cerebellar signs (8), and visual impairment (4). Patients from 14 of the 16 families (85%) were products of consanguineous marriage. More than 1 sibling was affected in 6 families. Scalp EEGs showed diffuse background slowing with epileptiform discharges in all and progressive slowing as the disease progressed in 3. Photosensitivity occurred in 4 of the 17 cases studied (23.5%). EEG abnormalities were documented in the presymptomatic stage in 2 cases 6 months and 6 years before clinical symptom onset. Visual evoked responses were abnormal in 4 of the 6 cases studied. Giant somatosensory evoked potentials (SSEP) were observed in all 8 cases studied. Lafora bodies were demonstrated in axillary skin in 14 of 17 (82.4%), in liver in 4 of 10 (40%), and in both brain biopsy specimens. In 2 cases, liver biopsy was positive while axillary skin biopsy was negative. In the brain, inclusions were evident in glial and capillary endothelial cells in addition to neurons. Although our cases were similar to those described earlier, the relative rarity of visual phenomena is emphasized. The clinical pattern was consistent with autosomal recessive inheritance. The high frequency of consanguinity in the South Indian population may be responsible for the many cases observed at our center.

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::b9ba26a4f51d4d8974085a4b12c61857Test
https://doi.org/10.1111/j.1528-1157.1993.tb02588.xTest

المؤلفون: Parthasarathy Satishchandra, Jayant Acharya, Susarla K. Shankar

المصدر: Epilepsia. 36(5)

مصطلحات موضوعية: Adult, Male, Pediatrics, medicine.medical_specialty, Pathology, Adolescent, Infantile neuronal ceroid lipofuscinosis, India, Epilepsies, Myoclonic, Progressive myoclonus epilepsy, Asymptomatic, Lafora disease, Neuronal Ceroid-Lipofuscinoses, Evoked Potentials, Somatosensory, medicine, Humans, Family, Age of Onset, Child, business.industry, MERRF syndrome, Electroencephalography, medicine.disease, MERRF Syndrome, Neurology, Somatosensory evoked potential, Female, Neurology (clinical), medicine.symptom, Age of onset, business, Myoclonus

الوصف: Summary: Progressive myoclonus epilepsy (PME) is a syndrome complex encompassing different diagnostic entities. Among the 30 cases of PME studied during 1982 and 1992 at the National Institute of Mental Health and Neurosciences, Bangalore, South India, the specific diagnoses included Lafora disease (LD), neuronal ceroid lipofuscinosis (NCL), Unverricht-Lundborg disease (ULD), and myoclonus epilepsy and ragged-red fibres (MERRF).We discuss the familial nature of PME and the clinical and electrophysiological abnormalities in asymptomatic siblings. Eight cases of LD were in three different families with 3 affected siblings in two families (L1, L2) and 2 siblings in the third family (L3). Occipital seizures and behavioral changes occurred in all 3 members of L1 but were absent in the other two families. Age of onset was similar in two families (L1, 11 years; L2, 14.5 years), but not in the third. Presymptomatic EEG abnormalities were observed as long as 6 years before onset in L2. ULD occurred in 2 sisters in one family. Both had identical clinical features and normal somatosensory evoked potentials (SSEPs). The asymptomatic sister of the patient MERRF had abnormal EEG and giant SSEPs for the past 2 years. Thus, although all variations are evident in the overall clinical pattern in each of the PME, affected member of individuals families tend to be similar. Once an index case is identified, electrophysiologic tests (EEG and SSEP) may be useful in identifying other affected siblings in the presymptomatic stage. Key Words: Progressive myoclonus epilepsy–Genetics–Electrophysiology–Presymptomatic.

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::592c3c27fe2d1025b558031bbbdf7781Test
https://pubmed.ncbi.nlm.nih.gov/7614918Test

المؤلفون: Bruce S. Schoenberg, A. Shivaramakrishana, V. G. Kaliaperumal, Parthasarathy Satishchandra

المصدر: Epilepsia. 29:52-56

مصطلحات موضوعية: Adult, Male, Pediatrics, medicine.medical_specialty, Hot Temperature, Adolescent, Bathing, Complex partial seizures, India, Epilepsy, Reflex Epilepsy, Female patient, medicine, Humans, Child, business.industry, Infant, Baths, Electroencephalography, Hot water epilepsy, Middle Aged, medicine.disease, Neurologic diagnosis, Neurology, Child, Preschool, Female, Neurology (clinical), business

الوصف: "Hot water epilepsy" (HWE), precipitated by a bath or shower in hot water, has been described infrequently in the literature. We report 279 cases of HWE that were seen between 1980 to 1983 in Bangalore, South India. We found HWE to be more common in children, with cases more frequent among male than female patients (2.6:1). Complex partial seizures constituted the main clinical presentation (67.0%); HWE accounted for 4.4% of all complex partial seizures and generalize tonic-clonic seizures seen at our center during the 1980-1983 period. Although prognosis seems favorable 25.4% of our patients developed nonreflex epilepsy within 1-3 years. They were managed with antiepileptic drugs and the use of lukewarm water for bathing.

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::8b9d42212e1bf11fae367654120fb6b3Test
https://doi.org/10.1111/j.1528-1157.1988.tb05098.xTest