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Patients with cognitive deficits have a prolonged latency and reduced amplitude of the P300 wave. However, no study has correlated P300 wave alterations with the cognitive performance of patients with cerebellar lesions. We aimed to determine if the cognitive status of these patients was associated with P300 wave alterations. We recruited 30 patients with cerebellar lesions from the wards of the N.R.S. Medical College, Kolkata, in West Bengal (India). The Kolkata Cognitive Screening Battery tasks and the Frontal Assessment Battery (FAB) were used to assess the cognitive status and the International Cooperative Ataxia Rating Scale (ICARS) for cerebellar signs. We compared the results with the normative data of the Indian population. Patients had P300 wave alterations with a significant increase in latency and a non-significant trend in amplitude. In a multivariate model, P300 wave latency was positively associated with the ICARS kinetic subscale (p = 0.005) and age (p = 0.009), regardless of sex and years of education. In the model that included cognitive variables, P300 wave latency was negatively associated with performance in phonemic fluency (p = 0.035) and construction (p = 0.009). Furthermore, P300 wave amplitude was positively associated with the FAB total score (p < 0.001). In closing, patients with cerebellar lesions had an increase in latency and a decrease in the amplitude of the P300 wave. These P300 wave alterations were also associated with worse cognitive performance and some of the subscales of the ICARS, reinforcing that the cerebellum has motor, cognitive, and affective functions.
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BACKGROUND: Hemifacial spasm (HFS) is a distressing, involuntary, irregular tonic-clonic contraction of the facial muscles innervated by the seventh cranial nerve. It affects the quality of life. Botulinum toxin is a preferred symptomatic treatment option for the condition. However, there is a lack of study in the Indian scenario. Therefore, we observed the demographic profile, clinical spectrum, therapeutic response, and adverse effects of botulinum toxin and assessed the quality of life in the pre and postinjection phases in our subjects with HFS. MATERIALS AND METHODS: The study design is a prospective open-label observational study. Consecutive cases of HFS were selected from the general neurology outpatient department (OPD) and movement disorder clinic of a medical college hospital in Eastern India. Clinical and relevant neuroimaging studies excluded mimickers and secondary causes of HFS. Institutional Ethics Committee's permission was obtained. Informed consent was taken from patients before botulinum toxin injection. The pre and postinjection assessment tools were spasm rate for a specific period of time, quantification of facial asymmetry, widening palpebral fissure by visual analog scale, Jankovic disability rating scale, HFS-7 scale, and videography. RESULTS: A total of 250 cases of HFS (F:M = 138:112) were studied. The mean age of presentation was 47 years. The mean dose of botulinum toxin injection was 24.2 units per patient. The mean duration of improvement was 4 months. The spasm frequency was decreased by 90%, and the facial asymmetry was improved by 86%. The improvement in quality of life was 86%. Local adverse effects are seen in 10.4% of cases, and all were reversible. CONCLUSION: This is one of the largest studies on the effects of botulinum toxin in subjects with HFS in the Indian population. Periodic injection of botulinum toxin is a safe and effective therapy for subjects with HFS. There is a significant improvement in the quality of life following botulinum toxin therapy in subjects with HFS. Adverse effects were local, mild, well-tolerated, and reversible.
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Toxinas Botulínicas Tipo A , Espasmo Hemifacial , Fármacos Neuromusculares , Humanos , Pessoa de Meia-Idade , Toxinas Botulínicas Tipo A/efeitos adversos , Espasmo Hemifacial/tratamento farmacológico , Fármacos Neuromusculares/efeitos adversos , Qualidade de Vida , Assimetria Facial , Estudos Prospectivos , ÍndiaRESUMO
Besides clinical and imaging techniques, there is a lack of molecular makers for the diagnosis of Parkinson's disease (PD). There is an immense need to develop biomarkers associated with the phenotypes which may be valuable for individualized treatment. Single-nucleotide polymorphisms (PARK2: Ser167Asn (G>A) and Val380Leu (G>C); PARK7: IVS4 + 46G>A and IVS4 + 30T>G) in PD-related genes were examined to elucidate its relationship with concentration of serum elements and clinical symptoms of PD. A total of 214 PD patients and 213 controls from Indian population were genotyped using PCR and DNA sequencing methods. The serum element concentrations were detected and clinical symptoms were determined based on UPDRS scale and recorded at the time of sample collection. The IVS4 + 30T>G, Ser167Asn (G>A) and Val380Leu (G>C) polymorphisms appeared to alter element concentrations in PD. The patients with Ser167Asn polymorphism showed significant association with copper, iron and zinc that reinforces the role of A allele as a factor for change in the concentrations of elements, than those patients with G allele. In particular, patients with A allele of Ser167Asn have risk of having high serum iron concentration (OR 11.55, 95% CI 5.59-23.85), which are associated with dementia and postural imbalance. Similar results were observed for Val380Leu (G>C) and IVS4 + 30T>G polymorphisms which suggest their role in element concentration and neurological symptoms. Overall, our study demonstrates the influence of polymorphisms of PD genes on element concentrations and clinical symptoms. Results of this study may be taken into account when considering the contributing factors for PD symptoms.
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Doença de Parkinson/sangue , Doença de Parkinson/genética , Polimorfismo de Nucleotídeo Único , Proteína Desglicase DJ-1/genética , Oligoelementos/sangue , Ubiquitina-Proteína Ligases/genética , Idoso , Estudos de Casos e Controles , Feminino , Frequência do Gene , Estudos de Associação Genética , Predisposição Genética para Doença , Genótipo , Humanos , Índia/epidemiologia , Masculino , Metais Pesados/análise , Metais Pesados/sangue , Pessoa de Meia-Idade , Doença de Parkinson/epidemiologia , Doença de Parkinson/patologia , Fatores de Risco , Oligoelementos/análiseRESUMO
Purpose: The retinal involvement of amyotrophic lateral sclerosis (ALS) is a novel idea about a possible correlation between retinal nerve fiber layer (RNFL) thickness in different spectra of ALS patients. Finding the association of RNFL with disease duration and severity will help identify a novel noninvasive biomarker. Methods: The study was designed as a cross-sectional study and was conducted with a suitable proforma. We included the ALS cases based on the revised El Escorial criteria. Healthy controls were age and gender matched. We used the revised ALS functional rating scale (ALSFRS-R) to assess the operational status of the patients. We measured RNFL thickness in the four quadrants with spectral-domain optical coherence tomography (OCT) and analyzed it. Results: We included 30 cases (60 eyes) and 10 healthy controls (20 eyes) having a mean (standard deviation [SD]) age of 49.5 (11.1) years with a median of 50 years, and a majority of them (65%) were middle aged (between 41 and 60 years). We found statistically significant differences in RNFL thicknesses between ALS patients and healthy controls. On segmental analysis, the right eye superior and nasal quadrants and the left eye superior, inferior, and nasal quadrants were significantly affected, along with a gross asymmetry found between the left and right eyes among ALS patients. There was a significant decrease in average RNFL thickness in definite ALS patients than probable ALS patients, with significantly reduced average RNFL thickness in moderate to severe ALS patients. On correlation analysis, disease duration showed a good negative correlation with bilateral average RNFL thickness, and the ALSFRS-R score demonstrated a good positive correlation with bilateral average RNFL thickness, which was statistically significant. Thus, a reduced bilateral RNFL thickness is associated with a decreased ALSFRS-R score. Conclusion: The retinal changes can serve as a marker for diagnosing and monitoring patients with ALS.
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Esclerose Lateral Amiotrófica , Pessoa de Meia-Idade , Humanos , Esclerose Lateral Amiotrófica/diagnóstico , Estudos Transversais , Fibras Nervosas , Retina/diagnóstico por imagem , Tomografia de Coerência Óptica/métodosRESUMO
A male child suffering from generalized tonic clonic epilepsy, on treatment with valproate, developed fulminant hepatic failure, hyperammonemia and encephalopathy due to drug toxicity. The most extraordinary feature was his MRI (FLAIR image) of brain which showed unilateral hyperintensities in right putamen and caudate nucleus. The patient recovered on withdrawal of valproate with mild residual left sided athetotic movements during remission. Repeat investigation confirmed an improved MRI imaging and normalised blood ammonia levels. The case report is unique because of unilateral involvement of basal ganglia due to valproate-induced encephalopathy.
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Gânglios da Base/patologia , Encefalopatias/patologia , Lateralidade Funcional , Hiperamonemia/patologia , Anticonvulsivantes/efeitos adversos , Encefalopatias/induzido quimicamente , Encefalopatias/complicações , Encefalopatias/metabolismo , Pré-Escolar , Imagem de Difusão por Ressonância Magnética , Humanos , Hiperamonemia/induzido quimicamente , Hiperamonemia/complicações , Ácido Láctico/metabolismo , Espectroscopia de Ressonância Magnética , Masculino , Convulsões/tratamento farmacológico , Ácido Valproico/efeitos adversosRESUMO
Dengue infection is endemic in developing countries posing a major public health problem. Clinical manifestations form a broad spectrum and include uncomplicated dengue fever, dengue hemorrhagic fever and dengue shock syndrome. We report three confirmed cases of dengue infection in pediatric population with central nervous system involvement with certain unreported manifestations resulting in diagnostic dilemma. Increasing evidence of neurotropism by dengue virus emphasizes that clinician be aware of such association and consider dengue infection in cases of febrile encephalitis and myelitis in endemic areas. Early diagnosis and appropriate supportive cars can reverse this potentially fatal disease.
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Dengue/diagnóstico , Anticorpos Antivirais/sangue , Doenças do Sistema Nervoso Central/complicações , Doenças do Sistema Nervoso Central/diagnóstico , Doenças do Sistema Nervoso Central/virologia , Criança , Pré-Escolar , Dengue/virologia , Vírus da Dengue , Ensaio de Imunoadsorção Enzimática , Evolução Fatal , Febre/complicações , Humanos , Lactente , Imageamento por Ressonância Magnética , Masculino , Exame Neurológico , Resultado do TratamentoRESUMO
Neuromyelitis Optica (NMO) is an autoimmune inflammatory disease that affects the optic nerves and spinal cord. The autoantibody is generated against the abundant water channel protein of the brain, Aquaporin 4 (AQP4). Of the two isoforms of AQP4, the shorter one (M23) often exists as a supramolecular assembly known as an orthogonal array of particles (OAPs). There have been debates about the fate of these AQP4 clusters upon binding to the antibody, the exact mechanism of its turnover, and the proteins associated with the process. Recently several clinical cases of NMO were reported delineating the effect of Rituximab (RTX) therapy. Extending these reports at the cell signaling level, we developed a glioma based cellular model that mimicked antibody binding and helped us track the subsequent events including a variation of AQP4 levels, alterations in cellular morphology, and the changes in downstream signaling cascades. Our results revealed the extent of perturbations in the signaling pathways related to stress involving ERK, JNK, and AKT1 together with markers for cell death. We could also decipher the possible routes of degradation of AQP4, post-exposure to antibody. We further investigated the effect of autoantibody on AQP4 transcriptional level and involvement of FOXO3a and miRNA-145 in the regulation of transcription. This study highlights the differential outcome at the cellular level when treated with the serum of the same patient pre and post RTX therapy and for the first time mechanistically describes the effect of RTX.
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Aquaporina 4/metabolismo , Autoanticorpos/sangue , Autoantígenos/metabolismo , Imunoglobulina G/sangue , Neuromielite Óptica/metabolismo , Rituximab/uso terapêutico , Adulto , Aquaporina 4/genética , Aquaporina 4/imunologia , Autoantígenos/genética , Autoantígenos/imunologia , Linhagem Celular Tumoral , Membrana Celular/química , Membrana Celular/ultraestrutura , Forma Celular , Extensões da Superfície Celular/ultraestrutura , Feminino , Proteína Forkhead Box O3/fisiologia , Glioblastoma , Humanos , Leupeptinas/farmacologia , Masculino , MicroRNAs/genética , Microscopia Confocal , Neuromielite Óptica/tratamento farmacológico , Neuromielite Óptica/imunologia , Complexo de Endopeptidases do Proteassoma/metabolismo , Transdução de Sinais , Análise de Célula Única , Transcrição Gênica , Adulto JovemRESUMO
Metalloproteins utilizes cellular metals which plays a crucial function in brain that linked with neurodegenerative disorders. Parkinson's disease (PD) is a neurodegenerative disorder that affects geriatric population world-wide. Twenty-four metal-binding protein networks were investigated to identify key regulating protein hubs in PD blood and brain. Amongst, aluminum, calcium, copper, iron, and magnesium protein hubs are the key regulators showing the ability to classify PD from control based on thirty-four classification algorithms. Analysis of these five metal proteins hubs showed involvement in environmental information processing, immune, neuronal, endocrine, aging, and signal transduction pathways. Furthermore, gene expression of functional protein in each hub showed significant upregulation of EFEMP2, MMP9, B2M, MEAF2A, and TARDBP in PD. Dysregulating hub proteins imprint the metal availability in a biological system. Hence, metal concentration in serum and cerebrospinal fluid were tested, which were altered and showed significant contribution towards gene expression of metal hub proteins along with the previously reported PD markers. In conclusion, analyzing the levels of serum metals along with the gene expression in PD opens up an ideal and feasible diagnostic intervention for PD. Hence, this will be a cost effective and rapid method for the detection of Parkinson's disease.
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BACKGROUND: Cognitive impairment is commonly seen in patients with Duchenne muscular dystrophy (DMD). Few studies have shown a correlation between loss of different isoforms of the DMD gene and cognitive impairment. OBJECTIVE: The objective of the study was to determine whether correlation exists in the location of mutation in DMD gene or loss of different isoforms and cognitive impairment in children with DMD in the Indian population. MATERIALS AND METHODS: Ten children were evaluated. Gene mutation analysis was done by multiplex ligation-dependent probe amplification method. The isoforms affected were inferred from mutation location in each of these patients. Binet Kamat Intelligence Test (BKT) and Bender Gestalt test (BGT) were administered. RESULTS: All male patients were aged between 4 and 9 years. Genetic analysis showed deletion in all patients, with seven having deletion in "hotspot" regions (exon 43-52). Psychometric analysis by BGT and BKT showed mean score of 8.6 and mean IQ score of 85.5, respectively. Comparison between patients with hotspot mutations and mutations in other regions, for mean IQ score and BGT score, was statistically significant (P = 0.132 and P = 0.005, respectively). The difference in the IQ score between patients with isolated Dp427 loss (n = 3) and cumulative Dp427/Dp260/Dp140utr loss (n = 6) was statistically significant (P = 0.011). Visuomotor functioning was more impaired in patients with isolated Dp427 loss. CONCLUSION: The role of cumulative loss of isoforms along with importance of loss of Dp140pc isoform was seen in our study. One patient with loss of Dp140utr isoform had intellectual impairment which is not commonly seen. Visuomotor functioning is more affected in more upstream mutations as shown in our study.
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BACKGROUND AND PURPOSE: The Magnitude of Drug-resistant Epilepsy (DRE) in India, being unknown, takes a heavy toll on the patients and society in the form of prolonged dependence, unemployment, morbidity and mortality. We tried to explore the clinical, electro-physiological, neuro-imaging and drug-response spectrum of DRE patients in Eastern India in our study. METHODS: During the period of January 2014 to December 2015, epilepsy patients were treated and DRE patients were identified according to International League Against Epilepsy criteria. We isolated those patients and studied them in a special clinic. RESULTS: Among 2,153 patients treated in Neurology out-patient department, 243 (11.3%) patients were drug-resistant. Among the DRE patients, 63% were male. Age-wise 40%, 30.5% & 18.1% patients were presented in their first, second and third decades respectively. Males were more affected in 0-5 years age group while females in 6-10 years age group. Various seizures types were found alone or in combination. Males were mostly affected by generalized tonic clonic seizure and myoclonus and females by complex partial seizure. Positive family history was higher in partial seizure group. Electroencephalographic (EEG) abnormalities were common with structural lesions in brain. EEG findings in different etiologies were varied with a large number of DRE patients who were found to have normal EEG. Females were higher medicine non-compliant. CONCLUSIONS: The spectrum was pointed towards gender predilection for specific age group and also for seizure types. Idiopathic cases were most common in DRE, pointing towards the need of newer investigations. Normal EEG could be found even in a DRE patient. Non-compliance was more in females.
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INTRODUCTION: A "giant" lipoma is defined as a tumor having dimensions greater than 10 cm. Giant lipomas are rare and giant breast lipomas are exceptionally uncommon. Only six cases have been described in world literature till date. Herein we describe a case of giant breast lipoma and discuss its surgical management. CASE REPORT: A 43-year-old lady presented with left sided unilateral gigantomastia. Clinical examination, radiology and histopathology diagnosed lipoma. Excision of the tumor was planned, together with correction of the breast deformity by reduction mammoplasty using McKissok technique. A tumor measuring 19 cm × 16 cm × 10 cm and weighing 1647 grams was removed. The nipple areola complex was set by infolding of the vertical pedicles and the lateral and medial flaps were approximated to create the final breast contour. The patient is doing well on follow up. DISCUSSION: Giant lipomas are rare and of them, giant breast lipomas are extremely uncommon. They can grow to immense proportions and cause significant aesthetic and functional problems. The treatment is excision. But reconstruction of the breast is almost always necessary to achieve a symmetric breast in terms of volume, shape, projection and nipple areola complex symmetry compared to the normal opposite breast. Few authors have used various mammoplasty techniques for reconstruction of the breast after giant lipoma excision. Our case has the following unique features: (i) It is the third largest breast lipoma described in the literature till date, weighing 1647 grams; (ii) The Mckissock technique has been used for parenchymal reshaping which has not been previously described for giant breast lipoma. CONCLUSION: This case demonstrates that reduction mammoplasty after giant lipoma removal is highly rewarding, resulting in a smaller-sized breast that is aesthetically more pleasing, has better symmetry with the contralateral breast, and provides relief from functional mass deficit.
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Neoplasias da Mama/complicações , Neoplasias da Mama/cirurgia , Mama/anormalidades , Hipertrofia/etiologia , Lipoma/complicações , Lipoma/cirurgia , Adulto , Mama/cirurgia , Feminino , Humanos , Hipertrofia/cirurgia , MamoplastiaAssuntos
Cerebelo/diagnóstico por imagem , Transtornos Cognitivos/diagnóstico por imagem , Transtornos Cognitivos/genética , Proteínas do Olho/genética , Proteínas de Membrana/genética , Ataxias Espinocerebelares/diagnóstico por imagem , Ataxias Espinocerebelares/genética , Adulto , Humanos , Masculino , Mutação/genéticaRESUMO
Parkinson's disease (PD) is a neurodegenerative disease with the absence of markers for diagnosis. Several studies on PD reported the elements imbalance in biofluids as biomarkers. However, their results remained inconclusive. This study integrates metallomics, multivariate and artificial neural network (ANN) to understand element variations in CSF and serum of PD patients from the largest cohort of Indian population to solve the inconsistent results of previous studies. Also, this study is aimed to (1) ascertain a common element signature between CSF and serum. (2) Assess cross sectional element variation with clinical symptoms. (3) Develop ANN models for rapid diagnosis. A metallomic profile of 110 CSF and 530 serum samples showed significant variations in 10 elements of CSF and six in serum of patients compared to controls. Consistent variations in elements pattern were noticed for Calcium, Magnesium and Iron in both the fluids of PD, which provides feasible diagnosis from serum. Furthermore, implementing multivariate analyses showed clear classification between normal and PD in both the fluids. Also, ANN provides 99% accuracy in detection of disease from CSF and serum. Overall, our analyses demonstrate that elements profile in biofluids of PD will be useful in development of diagnostic markers for PD.
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Cálcio/sangue , Cálcio/líquido cefalorraquidiano , Ferro/sangue , Ferro/líquido cefalorraquidiano , Magnésio/sangue , Magnésio/líquido cefalorraquidiano , Doença de Parkinson/diagnóstico , Biomarcadores/sangue , Biomarcadores/líquido cefalorraquidiano , Estudos Transversais , Feminino , Humanos , Índia , Masculino , Pessoa de Meia-Idade , Análise Multivariada , Doença de Parkinson/sangue , Doença de Parkinson/líquido cefalorraquidiano , Doença de Parkinson/tratamento farmacológico , Espectrofotometria Atômica , Oligoelementos/sangue , Oligoelementos/líquido cefalorraquidianoRESUMO
Transient hyperintensity in splenium of corpus callosum is a relatively infrequent finding in MRI. Although it has been most consistently linked with frequent seizure episodes, many other possible causes have been proposed by different workers. Cryptococcal meningitis as a cause of transient splenial hyperintensity has never been reported till date. Here, we report a young girl who is congenitally immunodeficient and had suffered from cryptococcal meningitis with typical transient splenial hyperintense lesions in MRI.
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A 3-year-old boy receiving valproate for 1.5 months presented with sudden-onset unprovoked seizures and unconsciousness. Hypoketotic hypoglycemia, hyperammonemia, and deranged liver function were detected. Elevated medium-chain urinary acylglycines and plasma acylcarnitine were detected. His serum valproate level was elevated. Valproate toxicity had been precipitated in presence of medium-chain acyl-CoA dehydrogenase deficiency. Cranial magnetic resonance imaging brain indicated unilateral basal ganglia ischemia instead of the bilateral changes expected in metabolic disease.
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Erros Inatos do Metabolismo Lipídico/patologia , Acil-CoA Desidrogenase/deficiência , Anticonvulsivantes/efeitos adversos , Anticonvulsivantes/farmacocinética , Anticonvulsivantes/uso terapêutico , Gânglios da Base/patologia , Encéfalo/patologia , Isquemia Encefálica/patologia , Carnitina/análogos & derivados , Carnitina/sangue , Infarto Cerebral/patologia , Pré-Escolar , Escala de Coma de Glasgow , Humanos , Testes de Função Hepática , Imageamento por Ressonância Magnética , Masculino , Respiração Artificial , Convulsões/tratamento farmacológico , Convulsões/etiologia , Ácido Valproico/efeitos adversos , Ácido Valproico/farmacocinética , Ácido Valproico/uso terapêuticoRESUMO
Trigeminal neuralgia is a painful condition affecting face. Its commonest cause is the tortuous vessels in prepontine cistern. There are other causes also, like brainstem lesions and mass lesions, as well as inflammatory causes. We present a case of an HIV patient with marked involvement of trigeminal nerves, which is a unique finding in immunocompromised patients.