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INTRODUCTION: HIV/AIDS is a chronic multisystem disease and about 70% develop neurologic complications (including distal symmetric polyneuropathy (DSPN) any time during their life. DSPN is also a very common toxicity of drugs used to treat HIV infection. Little is known about the impact of HIV per se or other factors (apart from drugs) on the occurrence of DSPN in these patients. METHODS: It was a cross sectional, observational study, done at the department of Medicine, PGIMER, Dr. Ram Manohar Lohia Hospital, New Delhi, India. Ninety consecutive 18-40 years old HIV infected but treatment naïve (ART naïve) cases and 30 age and sex matched healthy controls were recruited for this study. RESULTS: Out of 90 cases, 12 (13.4%) had DSPN (8 males and 4 females). The mean CD4 counts of these cases with and without DSPN was 294.73/µl and 370.84/µl respectively. Only 3 out of these 12 cases were symptomatic on presentation and rest nine were diagnosed on NCV study. No control had abnormal NCV. Presence of DSPN was found to be directly associated with infection with HIV per se (p<0.001) along with duration of HIV infection (p<0.01) and level of immunodeficiency (p<0.001). CONCLUSION: This study demonstrates that DSPN is already present in 13.4% of treatment naive patients with HIV/AIDS and even with milder immunodeficiency and at early stages of disease. Not only HAART but HIV by itself is a major causative risk factor for DSPN in these patients.
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Infecções por HIV , Polineuropatias , Adolescente , Adulto , Terapia Antirretroviral de Alta Atividade , Contagem de Linfócito CD4 , Estudos Transversais , Feminino , HIV , Infecções por HIV/terapia , Humanos , Índia , Masculino , Prevalência , Adulto JovemRESUMO
Dystonic reactions are adverse extrapyramidal side effects and are common to antipsychotics, antiemetics, and a variety of other drugs. Rivastigmine, an anticholinesterase of carbamate variety, is well tolerated. A case of acute dystonic reaction with rivastigmine patch is being reported.
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Doença de Alzheimer/tratamento farmacológico , Antipsicóticos/efeitos adversos , Inibidores da Colinesterase/efeitos adversos , Distúrbios Distônicos/induzido quimicamente , Fenilcarbamatos/efeitos adversos , Idoso , Doença de Alzheimer/diagnóstico , Antipsicóticos/administração & dosagem , Inibidores da Colinesterase/administração & dosagem , Diazepam/administração & dosagem , Relação Dose-Resposta a Droga , Distúrbios Distônicos/tratamento farmacológico , Feminino , Humanos , Imageamento por Ressonância Magnética , Relaxantes Musculares Centrais/administração & dosagem , Fenilcarbamatos/administração & dosagem , Rivastigmina , Adesivo Transdérmico , Resultado do TratamentoRESUMO
BACKGROUND: Good medication adherence is the cornerstone of therapeutic success. Alzheimer's disease (AD) is the most common type of dementia and most patients are old and on multiple drugs, and good compliance therefore is even more important in this population. Dementia of Alzheimer's type (DAT) at present is yet to find a cure. Anticholinesterases and N-methyl-D-aspartate blockers are specific anti-AD therapies available. Hypertension, diabetes, and dyslipidemia can contribute to cognitive worsening. Keeping hypertension, diabetes, and dyslipidemia in control can therefore possibly prevent further cognitive decline. METHODS: Patients with subjective memory complaints (n = 75) were chosen randomly. Upon thorough neurological diagnostic work up for dementia, those with mild cognitive impairment/questionable dementia (Clinical Dementia Rating = 0.5) or those with AD were recruited in this study (n = 67). Those with hypertension, diabetes, and deranged lipid profile were further interviewed if they were able to take medicines regularly or not. An attempt was made to know causes of non-compliance. RESULTS: Forty-one percent of patients were not taking the drugs that have potential to prevent cardiovascular complications or ability to slow down cognitive decline in AD on regular basis. The lack of awareness, ignorance, medicines being "too expensive," and the pressure of taking medicines regularly were cited as the reasons for non-compliance. Being illiterate and having low education contributed majorly to poor compliance in this study. CONCLUSION: Compliance to drugs that have potential or real ability to slow down cognitive decline is low in elderly people with DAT.
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Idoso/psicologia , Transtornos Cognitivos/tratamento farmacológico , Demência/prevenção & controle , Prescrições de Medicamentos/estatística & dados numéricos , Adesão à Medicação/estatística & dados numéricos , Psicotrópicos/uso terapêutico , Atividades Cotidianas , Envelhecimento/efeitos dos fármacos , Envelhecimento/psicologia , Doença de Alzheimer/etnologia , Doença de Alzheimer/prevenção & controle , Doença de Alzheimer/psicologia , Povo Asiático/psicologia , Transtornos Cognitivos/diagnóstico , Transtornos Cognitivos/psicologia , Demência/etnologia , Demência/psicologia , Pesquisas sobre Atenção à Saúde , Instituição de Longa Permanência para Idosos , Humanos , Índia/etnologia , Adesão à Medicação/etnologia , Casas de Saúde , Prevalência , Inquéritos e Questionários , Suécia/epidemiologiaRESUMO
Background: Contrast Induced Sialadenitis or Iodide Mumps refers to non-suppurative inflammation of salivary glands following intravenous iodinated contrast administration. It is a rare adverse effect of iodinated contrast with only a few cases reported worldwide. It is hypothesized to be an idiosyncratic reaction due to toxic accumulation of iodine in salivary glands. Case Report: We report a case of a 40-year-old female patient who underwent CECT brain after intravenous injection of 40ml of non-ionic iodinated contrast and developed symmetric painless swelling in bilateral submandibular triangles within five hours of contrast administration. Ultrasound with color doppler and MR imaging was performed which confirmed the diagnosis of contrast induced sialadenitis. Sialadenitis was managed conservatively and resolved slowly over eight days. Conclusion: Though it is a rare self-limiting adverse event of iodinated contrast, it must be known to the radiologist as well as the clinician to avoid unnecessary work up and manage the patient better. Supplementary Information: The online version contains supplementary material available at 10.1007/s12070-023-03575-x.
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Epstein-Barr virus (EBV) infection can rarely present as encephalitis in HIV patients. We report a case of a 22-year-old female patient, diagnosed to have HIV infection 8 years back. She presented with headache and altered behavior for a week and focal fits for 2 days. Neurological examination was unremarkable. Cerebrospinal fluid (CSF) examination revealed lymphocytic pleocytosis with raised protein. EBV was detected in CSF using polymerase chain reaction test. Magnetic resonance imaging of the brain revealed T2/fluid-attenuated inversion recovery hyperintensities involving the left frontal cortex, left thalamus, and right medial temporal cortex. The patient was started on antiviral therapy considering the diagnosis of EBV encephalitis. The patient completely recovered over the next few weeks.
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Background: Migraine is one of the primary headaches having a global prevalence of 15%. It is characterized by neurovascular dysfunction and recurrent episodes of headache. The hyperexcitability of the cerebral cortex has been recognized as an important factor in the pathogenesis of migraine, and magnesium (Mg) being a regulator of neuronal excitability is thought to participate in migraine pathogenesis. Objectives: To determine the serum levels of Mg in patients of migraine during the attack and in between attacks as compared to healthy controls. Methods: A total of 50 patients of migraine who fulfilled inclusion criteria were enrolled in the study along with the same number of healthy controls. International Classification of Headache Disorders 3rd Edition, 2013 (ICHD-III) criteria was used for the diagnosis of migraine. Results: The mean serum Mg in migraine cases during the interictal phase was lower than healthy controls (1.849 ± 0.135 vs 2.090 ± 0.205, P < 0.001), which was statistically significant. It was also found that mean serum Mg during attacks was significantly lower than in between attacks (1.822 ± 0.149 vs 1.849 ± 0.135, P = 0.003). Serum Mg levels in migraine cases showed an inverse linear relationship with the frequency of attacks. Conclusion: Relatively low serum Mg in migraine cases when compared with healthy controls and inverse relation of serum Mg levels with the frequency of migraine attacks suggests that Mg is significantly involved in mechanisms underlying migraine pathogenesis, which can be explored as a therapeutic option.
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Magnésio , Transtornos de Enxaqueca , Humanos , Transtornos de Enxaqueca/epidemiologia , Cefaleia , Estudos ProspectivosRESUMO
Cognitive function is a crucial determinant of human capital. The Lancet Commission (2020) has recognized air pollution as a risk factor for dementia. However, the scientific evidence on the impact of air pollution on cognitive outcomes across the life course and across different income settings, with varying levels of air pollution, needs further exploration. A systematic review was conducted, using Preferred Reporting Items for Systematic reviews and Meta-Analyses (PRISMA) Guidelines to assess the association between air pollution and cognitive outcomes across the life course with a plan to analyze findings as per the income status of the study population. The PubMed search included keywords related to cognition and to pollution (in their titles) to identify studies on human participants published in English until 10 July 2020. The search yielded 84 relevant studies that described associations between exposure to air pollutants and an increased risk of lower cognitive function among children and adolescents, cognitive impairment and decline among adults, and dementia among older adults with supportive evidence of neuroimaging and inflammatory biomarkers. No study from low- and middle-income countries (LMICs)was identified despite high levels of air pollutants and high rates of dementia. To conclude, air pollution may impair cognitive function across the life-course, but a paucity of studies from reLMICs is a major lacuna in research.
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Poluentes Atmosféricos , Poluição do Ar , Disfunção Cognitiva , Adolescente , Idoso , Poluentes Atmosféricos/análise , Poluentes Atmosféricos/toxicidade , Poluição do Ar/análise , Poluição do Ar/estatística & dados numéricos , Criança , Cognição , Disfunção Cognitiva/induzido quimicamente , Disfunção Cognitiva/epidemiologia , Exposição Ambiental/análise , Exposição Ambiental/estatística & dados numéricos , Humanos , Acontecimentos que Mudam a Vida , Material Particulado/análise , Material Particulado/toxicidadeRESUMO
Cerebellar ataxias (CAs) represent a group of autosomal dominant and recessive neurodegenerative disorders affecting cerebellum with or without spinal cord. Overall, CAs have preponderance for tandem nucleotide repeat expansions as an etiological factor (10 TREs explain nearly 30-40% of ataxia cohort globally). The experience of 10 years of common genetic ataxia subtypes for ≈5600 patients' referrals (Pan-India) received at a single center is shared herein. Frequencies (in %, n) of SCA types and FRDA in the sample cohort are observed as follows: SCA12 (8.6%, 490); SCA2 (8.5%, 482); SCA1 (4.8%, 272); SCA3 (2%, 113); SCA7 (0.5%, 28); SCA6 (0.1%, 05); SCA17 (0.1%, 05), and FRDA (2.2%, 127). A significant amount of variability in TRE lengths at each locus is observed, we noted presence of biallelic expansion, co-occurrence of SCA-subtypes, and the presence of premutable normal alleles. The frequency of mutated GAA-FRDA allele in healthy controls is 1/158 (0.63%), thus an expected FRDA prevalence of 1:100 000 persons. The data of this study are relevant not only for clinical decision making but also for guidance in direction of genetic investigations, transancestral comparison of genotypes, and lastly provide insight for policy decision for the consideration of SCAs under rare disease category.
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BACKGROUND: Pain is a common and distressing symptom of Parkinson's disease (PD). The relation of pain, its predictors, and its impact on quality of life (QoL) in PD has not been studied in Indian PD patients. OBJECTIVE: To assess the predictors of pain and investigate its impact on QoL among Indian PD patients. METHODOLOGY: We conducted a cross-sectional study on 100 PD patients. The cases were diagnosed according to the UK brain bank criteria. Unified PD Rating Scale (UPDRS) parts III, V, and VI were employed to assess the severity of the disease. King's Parkinson Disease Pain Scale (KPPS) and PD questionnaire-8 (PDQ-8) were used to evaluate pain and QoL, respectively. RESULTS: Prevalence of different pain types in patients with PD was 70%, mainly including musculoskeletal (53%), fluctuation-related (35%), and nocturnal pain (27%). Subjects with pain developed PD symptoms at a younger age and had a longer duration of the disease. A positive correlation was found between KPPS scores and UPDRS parts III and V, while a negative correlation was observed with UPDRS part VI. Pain in PD subjects had a significant impact on the QoL. CONCLUSIONS: Most of the PD patients suffered some form of pain with significant correlations with motor disability and poor QoL. Predictors of pain severity among PD patients included a longer disease duration, younger age of disease onset, and a higher levodopa equivalent daily dose (LEDD).
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Pessoas com Deficiência , Transtornos Motores , Doença de Parkinson , Estudos Transversais , Humanos , Dor/epidemiologia , Dor/etiologia , Doença de Parkinson/complicações , Doença de Parkinson/epidemiologia , Qualidade de Vida , Índice de Gravidade de DoençaRESUMO
Objective The aim of the study is to visually rate major forms of dementia using global cortical atrophy (GCA), medial temporal lobe atrophy (MTA), and Fazeka's scales and Koedam's score using magnetic resonance imaging (MRI). The purpose is to correlate the visual rating scales (VRS) with severity of dementia. Materials and Methods Thirty patients fulfilling DSM 5 (Diagnostic and Statistical Manual of Mental Disorders) criteria for Alzheimer's dementia (AD), vascular dementia (VaD), and frontotemporal dementia (FTD) underwent MRI brain. Cortical atrophy, medial temporal, and parietal lobe atrophy were assessed using GCA and MTA scales and Koedam's score, respectively. White matter hyperintensities were assessed using Fazeka's scale. Correlation between VRS and mini-mental state exam (MMSE) scores was done using Pearson correlation coefficient. Results 70% of patients had Grade 2 GCA. More patients with AD had higher MTA scores as compared with others with 57% of AD patients showing abnormal for age MTA scores. Fazeka's scale was abnormal for age in 58.33% of VaD and 57% AD patients. Majority (75%) showing severe parietal atrophy (Grade 3 Koedam's score) were AD patients. Disproportionate frontal lobe atrophy was seen in all four (100%) FTD patients. Significant negative correlation was seen between MMSE and GCA scores of all patients ( p -value = 0.003) as well as between MTA and MMSE scores in AD patients ( p -value = 0.00095). Conclusion Visual rating of MTA is a reliable method for detecting AD and correlates strongly with memory scores. Atrophy of specific regions is seen more commonly in some conditions, for instance, where MTA and parietal atrophy are specific for AD while asymmetric frontal lobe and temporal pole atrophy favor FTD.
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OBJECTIVE: To undertake a genome-wide association study (GWAS) to identify genetic variants for stroke in an Indian population. METHODS: In a hospital-based case-control study, 8 teaching hospitals in India recruited 4,088 participants, including 1,609 stroke cases. Imputed genetic variants were tested for association with stroke subtypes using both single-marker and gene-based tests. Association with vascular risk factors was performed with logistic regression. Various databases were searched for replication, functional annotation, and association with related traits. Status of candidate genes previously reported in the Indian population was also checked. RESULTS: Associations of vascular risk factors with stroke were similar to previous reports and show modifiable risk factors such as hypertension, smoking, and alcohol consumption as having the highest effect. Single-marker-based association revealed 2 loci for cardioembolic stroke (1p21 and 16q24), 2 for small vessel disease stroke (3p26 and 16p13), and 4 for hemorrhagic stroke (3q24, 5q33, 6q13, and 19q13) at p < 5 × 10-8. The index single nucleotide polymorphism of 1p21 is an expression quantitative trait locus (p lowest = 1.74 × 10-58) for RWDD3 involved in SUMOylation and is associated with platelet distribution width (1.15 × 10-9) and 18-carbon fatty acid metabolism (p = 7.36 × 10-12). In gene-based analysis, we identified 3 genes (SLC17A2, FAM73A, and OR52L1) at p < 2.7 × 10-6. Eleven of 32 candidate gene loci studied in an Indian population replicated (p < 0.05), and 21 of 32 loci identified through previous GWAS replicated according to directionality of effect. CONCLUSIONS: This GWAS of stroke in an Indian population identified novel loci and replicated previously known loci. Genetic variants in the SUMOylation pathway, which has been implicated in brain ischemia, were identified for association with stroke.
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Isquemia Encefálica/genética , Predisposição Genética para Doença , Polimorfismo de Nucleotídeo Único , Acidente Vascular Cerebral/genética , Adulto , Idoso , Alelos , Estudos de Casos e Controles , Feminino , Estudo de Associação Genômica Ampla , Humanos , Índia , Masculino , Pessoa de Meia-Idade , Fenótipo , Locos de Características Quantitativas , Fatores de Risco , SumoilaçãoRESUMO
BACKGROUND: The diagnostic workup for choreiform movement disorders including Huntington's disease (HD) and those mimicking HD like phenotype is complex. OBJECTIVE: The aim of the present study was to genetically define HD and HD-like presentations in an Indian cohort. We also describe HTT-CAG expansion manifesting as neuroferritinopathy-like disorder in four families from Punjab in India. MATERIALS AND METHODS: 159 patients clinically diagnosed as HD and HD-like presentations from various tertiary neurology clinics were referred to our centre (CSIR-IGIB) for genetic investigations. As a first tier test, CAG-TNR for HTT was performed and subsequently HD-negative samples were screened for JPH3 (HDL2), TBP (SCA17), ATN1 (DRPLA), PPP2R2B (SCA12) and GGGGCC expansion in C9orf72 gene. Four families presenting as neuroferritinopathy-like disorder were also investigated for HTT-CAG expansion. RESULTS: 94 of 159 (59%) patients were found to have expanded HTT-CAG repeats. Pathogenic repeat expansion in JPH3, TBP, ATN1 and C9orf72 were not found in HD negative cases. Two patients were positive for SCA12-CAG expansion in pathogenic length, whereas 5 cases harboured TBP-CAG repeats falling in reduced penetrance range of 41- 48 repeats for SCA17. Four unrelated families, presented with atypical chorea and brain MRI findings suggestive of basal ganglia abnormalities mimicking neuroferritinopathy were found to harbour HTT-CAG expansion. CONCLUSION: We present SCA12 as a new reported phenocopy of HD which should be considered for diagnostic workout along with SCA17 for HD-like syndromes. This study also illustrates the necessity, to consider evolving HD like phenotype, as a clinical diagnosis for cases with initial manifestations depicting neuroferritinopathy.
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Transtornos Heredodegenerativos do Sistema Nervoso/diagnóstico , Doença de Huntington/diagnóstico , Distúrbios do Metabolismo do Ferro/diagnóstico , Distrofias Neuroaxonais/diagnóstico , Expansão das Repetições de Trinucleotídeos/genética , Adulto , Feminino , Testes Genéticos , Transtornos Heredodegenerativos do Sistema Nervoso/genética , Humanos , Proteína Huntingtina , Doença de Huntington/genética , Índia , Distúrbios do Metabolismo do Ferro/genética , Masculino , Pessoa de Meia-Idade , Proteínas do Tecido Nervoso , Distrofias Neuroaxonais/genética , Proteína Fosfatase 2 , Proteína de Ligação a TATA-BoxRESUMO
Chikungunya (CHIK) has re-emerged as a potential neurotropic virus, with outbreaks recently being reported from many parts of India. The present study was conducted to study the spectrum and outcome of neurological complications in patients of CHIK during the 2016 outbreak in Delhi. A total of 42 cases seropositive for IgM CHIK antibodies by MAC-ELISA and developing neurological complications were enrolled. The male:female ratio was 1:2 (age range = 18-90 years). The neurological manifestations observed were encephalitis (n = 12), bulbar palsy (n = 3), acute disseminated encephalomyelitis (n = 1), cerebellitis (n = 1), myelopathy (n = 1), radiculoneuropathy (n = 3), carpal tunnel syndrome (n = 9) and tremors (n = 1). Ten patients reported worsening of pre-existing neuropathic symptoms of diabetic peripheral neuropathy (n = 4) and carpal tunnel syndrome (n = 6). One patient had aggravation of myasthenia gravis leading to respiratory failure. The majority of patients (n = 32) showed a good outcome; ten had a poor prognosis, out of which four died, all from the encephalitis group, particularly the elderly with co-morbidities.