RESUMEN
Myotonic dystrophy is an autosomal dominant neuromuscular disorder characterised by extreme pleiotropism and variability in disease expression. A congenital form is rare and is observed in infants born to symptomatic mothers with multisystem involvement. We report a case of a neonate with congenital myotonic dystrophy born to an asymptomatic mother.
RESUMEN
Botulinum toxins are, as a group, among the most potent neuromuscular toxins known, yet they are clinically useful in the management of conditions associated with muscular and glandular over-activity. Botulinum toxins act by preventing release of acetylcholine into the neuromuscular junction. While botulinum toxin type A is commonly available, different manufacturers produce specific products, which are not directly interchangeable and should not be considered as generically equivalent formulations. Type B is also available in the market. Each formulation of botulinum toxin is unique with distinct dosing, efficacy and safety profiles for each use to which it is applied. Botulinum toxin type A is the treatment of choice based on its depth of evidence in dystonias and most other conditions. Botulinum toxin type A is established as useful in the management of spasticity, tremors, headache prophylaxis and several other neurological conditions. Active research is underway to determine the parameters for which the type B toxin can be used in these conditions, as covered in this review. Botulinum toxin use has spread to several fields of medicine.
Asunto(s)
Antidiscinéticos/uso terapéutico , Toxinas Botulínicas/uso terapéutico , Distonía/tratamiento farmacológico , Humanos , India , Temblor/tratamiento farmacológicoRESUMEN
Essential tremor is the most common of the movement disorders, being 20 times more common than Parkinson's Disease. It is characterised by postural and kinetic tremor which maximally affects the hands. It can be assessed by physiological techniques, subjective clinical methods, objective clinical methods and handicap/disability scales. Accelerometry, spirography and handwriting assessment, volumetry and handicap/disability questionnaires are commonly used methods. Primidone and propranolol are the first-line drugs. Several second-line drugs have been identified. Surgical techniques include lesioning or stimulation of the ventral lateral thalamus. Alcohol and botulinum toxin A are found to reduce tremor amplitude as well.
Asunto(s)
Temblor Esencial/diagnóstico , HumanosRESUMEN
BACKGROUND: Although ischemic CVA is one of the leading causes for death and disability, parameters for predicting long-term outcome in such patients have not been clearly delineated, especially in the Indian context. METHODS: A prospective hospital-based study of 105 patients of ischemic stroke, focal neurological deficits and functional score was assessed and the C-reactive protein level (CRP) was measured. A follow-up was done at 5 days and at 6 months and outcome variable was the functional status at 6 months using Barthel Index of Activities of Daily Living. Accordingly, patients were grouped into 3 - Barthel Index < 41: Severely disabled, Barthel Index 41-60: Moderately disabled and Barthel Index > 60: Mildly disabled. RESULTS: At admission, if upper limb power was less than Medical Research Council (MRC) grade 4, or aphasia was present or CRP assay was positive, then at 6 months, these patients most likely belonged to the severely disabled group. If upper limb or lower limb power was greater than MRC grade 3 or there was no aphasia or conjugate gaze deviation or CRP assay was negative, these patients most likely belonged to the mildly disabled group at 6 months. Follow-up rate was 86%. CONCLUSION: Patients can be stratified according to the predicted prognosis. The treatment and rehabilitation can be properly planned and strictly adhered to in patients predicted to have worse prognosis.
Asunto(s)
Actividades Cotidianas , Isquemia Encefálica/diagnóstico , Evaluación de la Discapacidad , Humanos , Persona de Mediana Edad , Valor Predictivo de las Pruebas , Pronóstico , Estudios Prospectivos , Accidente Cerebrovascular/diagnósticoRESUMEN
A 52 year old lady was admitted for progressive pedal oedema over a six year period and recent onset of hyperpigmentation. Laboratory investigations revealed that she was having a malabsorption syndrome with protein losing enteropathy. In view of associated arthralgia and higher mental function disturbances, a clinical diagnosis of Whipple's disease was postulated. Duodenal biopsy revealed infiltration of the lamina propria with PAS positive macrophages, suggestive of Whipple's disease. This case is being reported to highlight that Whipple's disease can manifest in the most unsuspecting manner and that early treatment can cure the patient.
Asunto(s)
Edema/etiología , Femenino , Humanos , Hiperpigmentación/etiología , Persona de Mediana Edad , Enfermedad de Whipple/complicacionesRESUMEN
Pleural effusion is a common clinical entity in medical practice. We report a case wherein extensive investigations failed to yield a diagnosis and medical management including repeated thoracocentesis left the effusion refractory. The patient, a 26 years lady, gave a definite history of catamenial dry cough and wheeze. The mystery was unraveled following exploratory thoracotomy when a giant mediastinal teratomatous cyst with luteinized ovarian tissue was discovered and removed, leading to eventual cure for the patient.
Asunto(s)
Adulto , Diagnóstico Diferencial , Femenino , Humanos , Neoplasias del Mediastino/complicaciones , Derrame Pleural/etiología , Teratoma/complicaciones , Tomografía Computarizada por Rayos XAsunto(s)
Adulto , Humanos , Masculino , Síndrome POEMS/diagnóstico , Pronóstico , Negativa del Paciente al TratamientoRESUMEN
Research during the last few years has uncovered the mechanisms responsible for acute renal failure. During the initiation phase of acute tubular necrosis sublethal injury, apoptosis or necrosis of the tubular epithelium, hemodynamic alterations, tubule obstruction and back leakage occur. Hypofiltration persists due to imbalance between endothelins and endothelium derived nitric oxide, medullary congestion and tubuloglomerular feedback. Recovery is characterised by tubular epithelium regeneration. A greater understanding of the pathogenesis of acute renal failure will allow better management of such cases.
Asunto(s)
Apoptosis , Tasa de Filtración Glomerular , Humanos , Lesión Renal Aguda/etiología , Necrosis Tubular Aguda/etiología , Circulación Renal , Factores de Riesgo , Uremia/etiologíaRESUMEN
Neurological deficits can occur following viper bite. It is usually due to intracerebral or subarachnoid bleed as a result of depletion of clotting factors. A healthy 21-year old male developed motor aphasia and right hemiplegia within two hours of being bit by a viper. Brain CT scan revealed a left frontal lobe infarction. The possible mechanisms for cerebral infarction in this patient are hypotension, endothelial injury, hypercoagulability and vascular.
Asunto(s)
Adulto , Animales , Infarto Cerebral/inducido químicamente , Humanos , India , Masculino , Daboia , Mordeduras de Serpientes/complicaciones , Venenos de Víboras/envenenamientoRESUMEN
Twenty patients of suspected hepatocellular carcinoma (HCC) were studied to test the hypothesis that orcein staining of cytological specimens from HCC can detect hepatitis B surface antigen (HBsAg). HBsAg status, cytological examination of fine needle aspiration cytology (FNAC) material for diagnosis by Papanicolaou and modified orcein staining for HBsAg were carried out. Observer variability and agreement on orcein positivity was assessed and analyzed using kappa statistics. HCC was diagnosed in 13 patients and 8 were HBsAg positive; 8 had orcein positivity as judged by observer 2 and 7 by observer 1. A significant kappa value of 0.837 suggested a high degree of observer agreement in the interpretation of orcein positivity. This technique is safe and quick and can supplement the histopathological diagnosis of hepatitis B virus associated HCC.