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Variable Presentation (variable + presentation)
Selected AbstractsHepatitis E in Qatar imported by expatriate workers from Nepal: Epidemiological characteristics and clinical manifestationsJOURNAL OF MEDICAL VIROLOGY, Issue 6 2009Abdulsalam Saif Ibrahim Abstract Prompted by cases of acute hepatitis in expatriate workers presenting at Alkhor Hospital, Qatar, a limited prospective observational study was conducted from July 2005 to June 2006 to determine the epidemiological and clinical features of patients (predominantly Nepalese) presenting with acute hepatitis. Countrywide during that period samples from 86 Nepalese presenting at different centers were found to be anti-HEV IgG positive and 50 of these were also positive for anti-HEV IgM. Fifty-eight of those Nepalese were seen and treated at Alkhor Hospital and of them 43 were confirmed as cases of acute HEV, being positive for both anti-HEV IgM and IgG. The remaining 15 were diagnosed as probable cases of acute HEV on the basis of clinical and epidemiological similarity. It seems likely that transit in Kathmandu in reportedly unsanitary conditions was the focus of infection. In some of those examined at Alkhor, ultrasound detected a thickened gallbladder wall in 30 of 39 (76.9%) with two cases having clinical acalcular cholecystitis. Higher levels of alanine aminotransferase and aspartate aminotransferase were associated with severe disease and derangement in coagulation. On the available evidence hepatitis E was imported by expatriate workers and it is clear that medical screening of these workers pre- and post-arrival must be improved to prevent further outbreaks. It is also essential that health care workers in Qatar are made aware of this ongoing problem of imported HEV and understand the variable presentation of the condition. J. Med. Virol. 81:1047,1051, 2009. © 2009 Wiley-Liss, Inc. [source] Fulminant Wilson's Disease Requiring Liver Transplantation in One Monozygotic Twin Despite Identical Genetic MutationAMERICAN JOURNAL OF TRANSPLANTATION, Issue 5 2010K. M. Kegley Acute decompensated Wilson's disease (WD) that presents as fulminant hepatic failure carries significant mortality without hepatic replacement. The abnormal gene implicated in WD, ATP7B, has been mapped to chromosome 13, and leads to decreased passage of copper from hepatocytes to bile. Excess copper accumulation exceeds hepatocyte storage capacity resulting in intracellular necrosis, apoptosis and cell death in various organs of the body. The hepatic injury induced by the abnormal accumulation of copper in WD has variable presentation such as acute hepatitis, rapid hepatic deterioration resembling fulminant hepatic failure, or as progressive chronic liver disease in the form of chronic active hepatitis or cirrhosis. There are reports in the literature describing monozygotic (identical) twins with similar hepatic progression requiring liver transplantation, however, with different neurological outcome after transplant. We report a case of one monozygotic twin presenting with acute liver failure requiring emergent liver transplantation while the other twin presented with mild liver disease, when both shared an identical genetic mutation. [source] Acquired factor V inhibitor in a critically ill patientANAESTHESIA, Issue 9 2009C. J. Morris Summary Acquired inhibitor of factor V is a rare condition with a variety of clinical manifestations, from extremely mild to life threatening haemorrhage. We present a case from our intensive care unit as a reminder of the less common causes of elevated prothombin and activated partial thromboplastin times, and how knowledge of the variable presentation may aid management. [source] Nine cases of childhood adrenal tumour presenting with hypertension and a review of the literatureACTA PAEDIATRICA, Issue 6 2007Xiumin Wang Abstract Aim: To describe the clinical features, treatment and outcome of children adrenal tumors presenting with hypertension. Methods: The records of nine children under 16 years of age with adrenal tumours presenting with hypertension were analysed. Details were recorded for family history, clinical presentation, biochemistry, imaging, histology, treatment and outcome. Results: Abdominal mass was palpable only in one patient at diagnosis. Besides hypertension-associated symptoms, Cushing's syndrome was the common presentation form (n = 4). Abdominal computed topography showed adrenal mass in all patients. Tumours were completely resected for each patient. The median tumour weight was 73 g (11,530 g) and the size ranged from 1.5 × 1.5 to 12 × 14 cm2. Pheochromocytoma (n = 2), adrenocortical adenoma (n = 3), adrenocortical carcinoma (n = 1), neuroblastoma (n = 2) and ganglioneuromas (n = 1) were found. In one case, adrenal pheochromocytoma first occurred and non-functioning islet cell tumour successively occurred at pancreas. A better status is common at a median follow-up time of 3.5 years. Conclusions: Childhood adrenal tumours presented with hypertension showed an atypical course, variable presentation. We report a unique case of adrenal pheochromocytoma followed by the occurrence of non-functioning islet cell tumour. Reversal of hypertension by surgery is crucial. Imaging techniques are important to detect adrenal tumours. [source] Gaucher disease: mutation and polymorphism spectrum in the glucocerebrosidase gene (GBA),,HUMAN MUTATION, Issue 5 2008Kathleen S. Hruska Abstract Gaucher disease (GD) is an autosomal recessive disorder caused by the deficiency of glucocerebrosidase, a lysosomal enzyme that catalyses the hydrolysis of the glycolipid glucocerebroside to ceramide and glucose. Lysosomal storage of the substrate in cells of the reticuloendothelial system leads to multisystemic manifestations, including involvement of the liver, spleen, bone marrow, lungs, and nervous system. Patients with GD have highly variable presentations and symptoms that, in many cases, do not correlate well with specific genotypes. Almost 300 unique mutations have been reported in the glucocerebrosidase gene (GBA), with a distribution that spans the gene. These include 203 missense mutations, 18 nonsense mutations, 36 small insertions or deletions that lead to either frameshifts or in-frame alterations, 14 splice junction mutations, and 13 complex alleles carrying two or more mutations in cis. Recombination events with a highly homologous pseudogene downstream of the GBA locus also have been identified, resulting from gene conversion, fusion, or duplication. In this review we discuss the spectrum of GBA mutations and their distribution in the patient population, evolutionary conservation, clinical presentations, and how they may affect the structure and function of glucocerebrosidase. Hum Mutat 29(5), 567,583, 2008. Published 2008 Wiley-Liss, Inc. [source] Invasive rhino-orbital fungal sinusitis following dental manipulationMYCOSES, Issue 4 2009Hemant Chopra Summary Rhinocerebral mucormycosis is a fulminant fungal infection of the nose and paranasal sinuses in immunocompromised patients. But mucormycosis following dental manipulation in immunocompetent patients leading to orbital involvement is rare. The objective of this study was to highlight the variable presentations of mucormycosis. We had two immunocompetent patients, who had undergone some dental treatment by quacks, later developed fulminant mucormycosis of the paranasal sinuses and blindness. The endoscopic sinus surgery and Amphotericin B chemotherapy resulted in a good outcome. This disease requires an aggressive approach of combined endoscopic sinus surgery and Amphotericin B to increase the chances of survival in these patients. [source] | |||||||||||||