Adrenoleukodystrophy (ALD) is an X linked recessive genetic disorder caused by an abnormality in the ABCD1 gene on the X chromosome, that affects 1 in 20 000 people. In X linked adrenoleukodystrophy (X-ALD), a defect in lignoceroyl-coenzyme A ligase causes pathognomonic tissue accumulation of very long chain fatty acids (VLCFA) in the adrenal cortex and nervous system. The phenotypic variability ranges from cerebral inflammatory demyelination of childhood onset, leading to death within 5 years, to adults remaining presymptomatic through more than five decades. Our case is that of a man who was previously diagnosed with bipolar affective disorder presented with dystonic posturing. During transit, he had an episode of generalised convulsive status epilepticus. He presented with spasticity and exaggerated reflexes. Three important signs of adrenal insufficiency were observed: hypotension, hyperpigmentation and comatose state. The diagnosis of X-ALD should be considered in young men presenting with gradually progressive unexplained cognitive and behavioural problems, a strong family history, adrenal insufficiency, bilateral upper motor signs with absent ankle reflexes.
A 63-year-old diabetic woman presented to the outpatient clinic with a 1-week history of abdominal pain. On complete evaluation, she was diagnosed to have essential thrombocythemia. Abdominal imaging revealed portal vein thrombosis with a large splenic infarct. The patient was started on anticoagulant, antiplatelet and cytoreductive therapy. In view of persistent high platelet count, plasma apheresis was done, following which the patient’s platelet counts were reduced. Essential thrombocythemia has a high rate of complications, resulting in significant morbidity and mortality. Few cases of this disease and its treatment have been described in the literature, especially pertaining to the Indian scenario. Further studies are needed to establish a multidisciplinary algorithm for its diagnosis and to elucidate the guidelines for the successful treatment of the condition.
Introduction and Aim: Nephrotic syndrome is a pathological condition in which the filtration of blood by the kidneys is defective. Patients with nephrotic syndrome will show abnormal serum albumin and protein levels in the urine. This study aims at filling the gaps in the knowledge of nephrotic syndrome based on the biochemical studies of samples from paediatric patients with the disease. The purpose of this study was to compare and differentiate the protein electrophoretic pattern of the serum and urine of patients having nephrotic syndrome with the time of diagnosis, time since treatment and management, using polyacrylamide gels. Materials and Methods: Nine serum and urine samples of known patients, were collected from clinical biochemistry laboratory, sent for investigations and stored at -80°C till we proceeded with the experiments. The total protein concentration was determined using Biuret method. Protein electrophoresis was then carried out using polyacrylamide gel, which sieves proteins in size range of 5-250 kD. The obtained electrophoretogram was compared for urinary and serum proteins patterns of the same patient, at the time of diagnosis, monitoring during treatment or as the disease progresses. Results: The abnormalities in the lipid profile were noted to complement the electrophoretic results obtained above. On correlation of the urine and serum patterns, we found that the albumin, alpha 2 and beta globulin bands were visible and comparable. Conclusion: Since some proteins other than albumin are comparable in serum and urine, we would like to extend these preliminary findings with the SDS PAGE pattern of urinary and serum proteins to facilitate the investigation of patients not only at the time of onset of the disease, but also at different levels of management of the disease in larger prospective studies.
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