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Rare Disease (rare + disease)
Selected AbstractsA journey of hope: lessons learned from studies on rare diseases and orphan drugsJOURNAL OF INTERNAL MEDICINE, Issue 1 2006M. WÄSTFELT Abstract. Rare diseases are frequently life-threatening or chronically debilitating and the impact on the quality of life of affected patients and their family members is thus significant. However, drug development for these conditions has been limited by a lack of understanding of the underlying mechanisms of disease and the relative unavailability of subjects for clinical trials, as well as the prohibitive cost of investing in a novel pharmaceutical agent with poor market potential. Nevertheless, the introduction of Orphan Drug legislations has provided important incentives for the development of orphan drugs (i.e. drugs that have been abandoned or ,orphaned' by major drug companies). Moreover, recent studies on rare diseases, including inherited immunodeficiencies and metabolic disorders, have served not only to alleviate the plight of patients with rare diseases, but also yielded valuable information on biological processes of relevance for other, more common conditions. These lessons, along with the crucial importance of cooperation between academic institutions, pharmaceutical companies, patient advocacy groups and society in the elucidation of rare diseases, are highlighted in the present review. [source] Call for a national plan for rare diseasesJOURNAL OF PAEDIATRICS AND CHILD HEALTH, Issue 1-2 2010Adam Jaffe Abstract Australia requires a national plan, similar to plans developed internationally, to address the impacts of rare diseases on individuals, the community and health services. Rare diseases often present in childhood, many are chronic, some life threatening and others associated with significant disability. However, diagnosis is often delayed, because of lack of knowledge and experience of health professionals and uncertainty about where to refer. Specialised health services are frequently lacking and specific therapies are often not available, partly because of lack of research funding directed towards rare diseases. A national plan would facilitate a coordinated response to service development, carer support, and health professional and community education, and would promote research and advocacy for affected children and their families. [source] Rare diseases and orphan drugsBRITISH JOURNAL OF CLINICAL PHARMACOLOGY, Issue 3 2006British Journal of Clinical Pharmacology, J. K. Aronson Chairman of the Editorial Board No abstract is available for this article. [source] Cervical screening in England and Wales: its effect has been underestimatedCYTOPATHOLOGY, Issue 6 2000A. Herbert Opinions about cervical screening in the UK tend to follow one of two negative lines of thought. The first is that cervical cancer is a rare disease, and too much time and effort are spent on screening. The second is that it has been relatively ineffective, since incidence of invasive carcinoma did not fall until the NHS Cervical Screening Programme (NHSCSP) was introduced in 1988, although it fell by 40% since then. This paper presents publicly available data to demonstrate that neither of these views is true. Registrations of invasive carcinoma of the uterine cervix and carcinoma in situ in England and Wales between 1971 and 1996 show that a substantially increased risk of disease in women born since 1940 has been reversed, almost certainly by greatly improved screening. Cervical carcinoma is now a rare disease because most cases are prevented before they become invasive, mostly by screening young women, aged 20,40, before the decade of life when symptomatic cervical carcinoma most frequently presents. [source] Cervical screening: how often should women be screened?CYTOPATHOLOGY, Issue 2 2000A. Herbert Introduction As a result of major improvements that have been made to cervical screening during the last 15 years, and implementation of call and recall to invite all women aged 20,64 for screening, the incidence of cervical carcinoma has fallen by 42% since 19901. Cervical cancer is now a rare disease, largely thanks to the widespread uptake of screening by the women at risk. Despite the manifest success of the NHS Cervical Screening Programme (NHSCSP), there is pressure on one hand to improve its sensitivity by the introduction of new technology, including human papillomavirus (HPV) testing2, and on the other hand to reduce the cost of the programme, which is more than £130m per year. The main method suggested to reduce costs is the restriction of routine screening to an interval of 5 years3,5. [source] A Case of Primary Cardiac Lymphoma: Analysis of the Role of Echocardiography in Early DiagnosisECHOCARDIOGRAPHY, Issue 8 2007Giorgio Faganello M.D. Primary Cardiac Lymphoma (PCL) is defined as a non-Hodgkin's lymphoma involving only the heart and/or pericardium. Diagnosis of this rare disease is particularly difficult due to its nonspecific clinical manifestations. In this review the role of echocardiography in the early diagnosis of PCL is assessed, moreover we report an improvement in the outcome of PCL related to increased availability and utilization of echocardiography. [source] Pyloric stenosis: a rare disease with a typical anamnesisEQUINE VETERINARY EDUCATION, Issue 4 2004M. Venner No abstract is available for this article. [source] Disease burden of chronic lymphocytic leukaemia within the European UnionEUROPEAN JOURNAL OF HAEMATOLOGY, Issue 4 2008Louise Watson Abstract Objective:, Whilst Chronic lymphocytic leukaemia (CLL) is considered a rare disease, to our knowledge, the current prevalence of CLL within the European Union (EU) member states is not published. Understanding the number of individuals with CLL is vital to assess disease burden within the wider population. Methods:, Using 2002 data from the International Agency for Research on Cancer, we estimated the number of individuals with CLL (ICD-10 C91.1) from those reported for all leukaemias (C91,95) and extrapolated the figures by the population increase within the EU between 2002 and 2006, the last year with fully updated community population estimates. One- and 5-yr partial prevalence estimates are reported (i.e. the number of individuals still living 1,5 yr post-diagnosis). We then applied proportional estimates from the literature to assess those requiring immediate treatment, those under observation and their likely progression rates. Results:, We found that within the 27 EU states plus Iceland, Norway and Lichtenstein, 1- and 5-yr CLL partial prevalence estimates totalled approximately 13 952 and 46 633 individuals respectively in 2006. By applying Binet staging to the 1-yr estimate, 40% of patients will be stage B/C and require immediate treatment. Thus, 5581 individuals may be treated within the first year of diagnosis. Of the 60% (8371) under observation, by 5 yr up to 33% (2763) may have more advanced disease with increased risk of mortality. Conclusion:, Whilst CLL is a rare disease, the number of individuals burdened by the disease within the EU is considerable and thousands of patients require treatment and physician care, which has cost implications for member states. [source] A population-based study of hairy cell leukemia in IsraelEUROPEAN JOURNAL OF HAEMATOLOGY, Issue 5 2006Ora Paltiel Abstract:,Objectives: Few population-based data exist on the incidence and prognosis of hairy cell leukemia (HCL). Our objectives were to study the effect of socio-demographic factors on this rare disease and the risk of second malignancies occurring in HCL patients. Methods: We measured crude and age-adjusted incidence rates of HCL based on reporting to the Israel Cancer Registry (ICR) 1991,2001. Using Kaplan,Meier and multivariate analysis, we assessed survival by gender, ethnicity and geographic region. We ascertained additional primary tumors reported in this population and calculated standardized incidence ratios (SIRs) for tumors reported after the diagnosis of HCL. Results: The ICR registered 147 cases of HCL among males and 34 in females between 1991 and 2001. Age-adjusted incidence rates were 1.62/106/yr for women and 7.97/106/yr for men, with rates 1.5 times higher in Jewish than in non-Jewish (mainly Arab) men. Mean overall survival also differed by ethnicity. In a multivariate model, increasing age at diagnosis (P < 0.001), as well as Arab origin (P = 0.008) were associated with poorer survival but gender did not significantly affect the survival after controlling for age and ethnicity. Other primary malignancies were reported in 20 (11%) individuals, with a predominance of genito-urinary tumors (65%) among males. Secondary genito-urinary tumors were significantly increased above the expected population rates (SIR 3.23, 95% confidence interval: 1.39,6.36, P = 0.008). Conclusions: In the Israeli population, age and ethnicity were associated with prognosis of HCL. Variations in disease characteristics, stage of disease at diagnosis or differential access to treatment may contribute to these findings. Patients with HCL appear to be at increased risk for genito-urinary malignancies. [source] EFNS guideline on the treatment of cerebral venous and sinus thrombosisEUROPEAN JOURNAL OF NEUROLOGY, Issue 6 2006K. Einhäupl Cerebral venous and sinus thrombosis (CVST) is a rather rare disease which accounts for <1% of all strokes. Diagnosis is still frequently overlooked or delayed due to the wide spectrum of clinical symptoms and the often subacute or lingering onset. Current therapeutic measures which are used in clinical practice include the use of anticoagulants such as dose-adjusted intravenous heparin or body weight-adjusted subcutaneous low-molecular-weight heparin (LMWH), the use of thrombolysis, and symptomatic therapy including control of seizures and elevated intracranial pressure. We searched MEDLINE (National Library of Medicine), the Cochrane Central Register of Controlled Trials (CENTRAL) and the Cochrane Library to review the strength of evidence to support these interventions and the preparation of recommendations on the therapy of CVST based on the best available evidence. Review articles and book chapters were also included. Recommendations were reached by consensus. Where there was a lack of evidence, but consensus was clear we stated our opinion as good practice points. Patients with CVST without contraindications for anticoagulation should be treated either with body weight-adjusted subcutaneous LMWH or dose-adjusted intravenous heparin (good practice point). Concomitant intracranial haemorrhage related to CVST is not a contraindication for heparin therapy. The optimal duration of oral anticoagulation after the acute phase is unclear. Oral anticoagulation may be given for 3 months if CVST was secondary to a transient risk factor, for 6,12 months in patients with idiopathic CVST and in those with ,mild' hereditary thrombophilia. Indefinite anticoagulation (AC) should be considered in patients with two or more episodes of CVST and in those with one episode of CVST and ,severe' hereditary thrombophilia (good practice point). There is insufficient evidence to support the use of either systemic or local thrombolysis in patients with CVST. If patients deteriorate despite adequate anticoagulation and other causes of deterioration have been ruled out, thrombolysis may be a therapeutic option in selected cases, possibly in those without intracranial haemorrhage (good practice point). There are no controlled data about the risks and benefits of certain therapeutic measures to reduce an elevated intracranial pressure (with brain displacement) in patients with severe CVST. Antioedema treatment (including hyperventilation, osmotic diuretics and craniectomy) should be used as life saving interventions (good practice point). [source] A Genetic Approach to Detecting Clusters in Point Data SetsGEOGRAPHICAL ANALYSIS, Issue 3 2005Jamison Conley Spatial analysis techniques are widely used throughout geography. However, as the size of geographic data sets increases exponentially, limitations to the traditional methods of spatial analysis become apparent. To overcome some of these limitations, many algorithms for exploratory spatial analysis have been developed. This article presents both a new cluster detection method based on a genetic algorithm, and Programs for Cluster Detection, a toolkit application containing the new method as well as implementations of three established methods: Openshaw's Geographical Analysis Machine (GAM), case point-centered searching (proposed by Besag and Newell), and randomized GAM (proposed by Fotheringham and Zhan). We compare the effectiveness of cluster detection and the runtime performance of these four methods and Kulldorf's spatial scan statistic on a synthetic point data set simulating incidence of a rare disease among a spatially variable background population. The proposed method has faster average running times than the other methods and significantly reduces overreporting of the underlying clusters, thus reducing the user's postprocessing burden. Therefore, the proposed method improves upon previous methods for automated cluster detection. The results of our method are also compared with those of Map Explorer (MAPEX), a previous attempt to develop a genetic algorithm for cluster detection. The results of these comparisons indicate that our method overcomes many of the problems faced by MAPEX, thus, we believe, establishing that genetic algorithms can indeed offer a viable approach to cluster detection. [source] Adenoid cystic carcinoma of the larynx: A 40-year experienceHEAD & NECK: JOURNAL FOR THE SCIENCES & SPECIALTIES OF THE HEAD AND NECK, Issue 7 2008Roger V. Moukarbel MD Abstract Background Laryngeal adenoid cystic carcinoma (ACC) is a rare disease. We reviewed our experience at the Princess Margaret Hospital (PMH) with its treatment. Methods This is a retrospective chart review of 15 cases treated at PMH between 1963 and 2005. Results The mean age was 48.6 years. There was no sex predilection. The subglottis was the most common subsite involved. Only 2 patients had regional metastasis. Local or regional recurrence was noted in 5 patients (33.3%). The distant metastasis rate was 66.7% and involved the lungs. The median follow-up time was 6.9 years. The 5- and 10-year overall and disease-specific survival rates were 64% and 46%, and 69% and 49%, respectively. Conclusion Laryngeal ACC is a rare disease with a high rate of distant recurrence. Its management should emphasize maximizing local and regional disease control by surgery followed by radiotherapy with distant disease failure eventually dictating survival. © 2008 Wiley Periodicals, Inc. Head Neck, 2008 [source] Lasthénie de Ferjol syndrome: a rare disease with fascinating historyINTERNAL MEDICINE JOURNAL, Issue 5 2010M. Karamanou Abstract In our paper, we present the fascinating story of Lasthénie de Ferjol syndrome. A rare self-induced iron deficiency anaemia caused by surreptitious blood-letting. The French haematologist Jean Bernard first described the syndrome and named it after the heroine of Barbey d' Aurevilly's novel The Story without a Name. This factitious anaemia presents a great challenge for physicians even today, both in diagnosis and in therapy. [source] Hashimoto's thyroiditis associated with idiopathic retroperitoneal fibrosis: case report and review of the literatureINTERNATIONAL JOURNAL OF CLINICAL PRACTICE, Issue 1 2007A. M. Pizzini Summary Idiopathic retroperitoneal fibrosis (IRF) is a rare disease of unknown origin, characterised by an inflammatory proliferative fibrosing process occurring in the retroperitoneum. Hashimoto's thyroiditis (HT) is a form of chronic thyroiditis that in some cases shows an extensive replacement of thyroid parenchyma by fibrous tissue. We report the rare association of IRF with HT in a 68-year-old woman presenting with pulmonary oedema, acute renal failure due to bilateral hydronephrosis and a firm diffuse goitre with hypothyroidism. The so far reported cases of IRF associated with chronic thyroiditis are reviewed, and the possible aetiopathogenetic link between these two entities is discussed. [source] Eosinophilic gastroenteritis: presentation of two patients with unusual affect of terminal ileum and caecum with manifestations of acute abdomen and literature reviewINTERNATIONAL JOURNAL OF CLINICAL PRACTICE, Issue 4 2004A. Charalabopoulos Summary Eosinophilic gastroenteritis is a rare disease; the long-term personal history with digestive symptoms and the course of the disease with relapses and remissions is the key for the disease to be suspected. Endoscopy, CT scan and sonographic studies may provide important indirect signs of the disease and in combination with histological examination the diagnosis can be achieved. The administration of corticosteroids is an important factor for the treatment or the remission of the disease. In this study two cases with unusual location of the disease, on the terminal ileum and caecum, are presented and a literature review is attempted. The disease process, clinical and laboratory findings as well as the surgical approach used are described. Eosinophilic gastroenteritis is a very rare disease with its surgical complications. The disease is a non-surgical disease, thus presurgical diagnosis is important because the entity discussed can be under control by conservative treatment. A high disease suspicious index must be kept in the physicians' mind. [source] Schnitzler syndrome: response to anakinra in two cases and a review of the literatureINTERNATIONAL JOURNAL OF DERMATOLOGY, Issue 11 2009Christian Schuster MD Background, Schnitzler syndrome is a rare disease characterized by a chronic urticarial eruption and monoclonal gammopathy, as well as clinical and laboratory signs of inflammation. The pathophysiology is still unknown, although various autoantibody-mediated mechanisms have been described. Complete remission of symptoms has been reported recently in patients with Schnitzler syndrome treated with anakinra, an interleukin-1 receptor antagonist. Methods, Two patients with Schnitzler syndrome treated with anakinra therapy are presented. Results, We report two cases of nearly complete remission of symptoms in Schnitzler syndrome after the initiation of anakinra therapy, and the first observation of a relapse under continuous daily anakinra therapy. A review of the published literature on the treatment of Schnitzler syndrome with anakinra is presented. Conclusions, Based on published data, monotherapy with anakinra is currently the most promising treatment for Schnitzler syndrome, because it is able to induce complete remission of symptoms. [source] Treatment of acquired syndactyly by gauze-fixed epidermal graft after radiosurgeryINTERNATIONAL JOURNAL OF DERMATOLOGY, Issue 10 2003Seong Eon Kim MD Background, Acquired syndactyly is a rare disease that occurs mostly after disease, trauma, or other inflammatory conditions. It is usually treated by surgical incision with a flap or full-thickness skin graft, which is very invasive and requires hospitalization. Objective, The objective was to treat acquired syndactyly with an epidermal graft by suction blister after radiosurgery, because this procedure is much less invasive and can be performed in an outpatient base. Methods, A 65-year-old Korean woman had acquired syndactyly after various traditional treatments for tinea pedis. Five days after separation of syndactyly with radiosurgery, we prepared an epidermal sheet by suction blister, placed it on sterile meshed gauze, and applied it to the separated lesion. Results, The patient's lesion was completely healed after 7 days. Conclusion, Gauze-fixed epidermal graft after radiosurgery is a very effective and simple treatment for shallow acquired syndactyly. [source] Pyoderma gangrenosum: a report of 21 casesINTERNATIONAL JOURNAL OF DERMATOLOGY, Issue 2 2002Rym Benmously Mlika MD Background Pyoderma gangrenosum (PG) is an uncommon, destructive, cutaneous ulceration, belonging to the neutrophilic disease spectrum. It is associated with systemic disease in 50% of cases. Methods We report a retrospective study of 21 cases of PG. All cases studied fulfilled the following criteria: (i) clinical features of PG; (ii) histopathology consistent with a diagnosis of PG, and excluding other specific dermatoses. Results The average age of our patients was 41.8 years. The male to female ratio was 1.1. The typical ulcerative variant was found in 17 patients, bullous PG in two patients, and the granulomatous variant in two patients. Sixty-two per cent of our patients had lesions on their lower legs. Two patients had neutrophilic pulmonary involvement concurrent with the ulcers. An association with other internal diseases was noted in 12 patients. Histopathologic study showed vasculitis in 13 patients. Of these, 11 were leukocytoclastic and the others predominantly lymphocytic. Conclusions PG is a rare disease, with the ulcerative variant being most frequent. The lower legs are the most commonly affected sites. The recurrence rate in our study was about 46% regardless of the treatment prescribed. Pulmonary involvement was fatal in two patients. [source] Long-chain 3-hydroxyacyl-CoA dehydrogenase deficiency with inadvertent caries in infantsINTERNATIONAL JOURNAL OF PAEDIATRIC DENTISTRY, Issue 1 2007FELIX BLAKE Background., Long-chain 3-hydroxyacyl-CoA dehydrogenase deficiency (LCHADD) is a rare systemic disease that is associated with early tooth decay. Case report., This report describes the case of a 3-year-old boy suffering from LCHADD. At the time of referral, extensive carious lesions of the subject's maxillary dentition necessitated the surgical removal of eight teeth. Preventive treatment for LCHADD involves a regular oral intake of glucose that is vital for the survival of the affected individual. In young infants, the glucose solution needs to be administered as often as every 3 h in order to prevent hypoglycaemia, leading to a local environment similar to that experienced in nursing bottle syndrome. While nursing bottle syndrome can be resolved by eliminating the sugar substrate and curtailing the feeding sessions, these alternatives are not available in cases of LCHADD. Conclusion., This report highlights this rare disease and emphasizes its dire consequences for the dentition. Prophylactic recommendations for high-risk children are reviewed. Familiarity with LCHADD allows this high-risk group of patients to be identified, and thus, ensures diligent prophylactic action. [source] Adrenocortical carcinoma: Retrospective study of 14 patients experienced at a single institution over 34 yearsINTERNATIONAL JOURNAL OF UROLOGY, Issue 7 2007Sachiyo Nishida Objective: To review clinical outcome of patients with adrenocortical carcinoma experienced at a single institute over 34 years. Methods: The study included 14 patients who were diagnosed as having the disease and were treated at the Department of Urology, Sapporo Medical University Hospital between 1973 and 2006. Their clinical features and outcomes were reviewed. Results: Of the 14 patients, there were nine men and five women. The median follow-up period was 13.0 months (range, 1,213). Two patients were classified as having stage II disease, seven as stage III and five as stage IV. The disease was completely removed in eight patients and incompletely in three. Two other patients received exploratory laparotomy only. The remaining one patient had no indication for surgery. The median survival periods were 2 months in patients with stage IV and 108 months in those with stages II and III (P = 0.136). Mitotane treatment in the adjuvant setting did not clearly affect the clinical courses of patients without metastasis. However, the treatment was effective for metastasis that was repeatedly developed as late recurrence in one patient. Three patients with metastasis at diagnosis received combination chemotherapy with etoposide, doxorubicin and cisplatin (EDP) with or without mitotane treatment, to which lung metastasis completely responded in one patient. Conclusions: Adrenocortical carcinoma is a rare disease but frequently recurs. The best chance of survival may be achieved by early detection and complete surgical removal. There may be patients who possibly benefit from mitotane treatment with or without EDP, although this remains to be conclusively determined. [source] Testicular metastasis from hepatocellular carcinomaINTERNATIONAL JOURNAL OF UROLOGY, Issue 7 2006CHIEN HSIANG WANG Abstract, We document a case of testicular metastasis from hepatocellular carcinoma. The patient suffered from bilateral testicular painful swelling for 6 months. Scrotal ultrasonography showed bilateral testicular tumors and the whole abdominal computed tomography revealed a huge tumor in the left lobe of the liver. Bilateral orchiectomy and postoperative ultrasound-guided liver biopsy were done. Pathological examination revealed metastatic hepatocellular carcinoma. Hepatocellular carcinoma with testicular metastases is a very rare disease. [source] Mucinous cystadenoma mimicking simple renal parenchymal cyst in a horseshoe kidneyINTERNATIONAL JOURNAL OF UROLOGY, Issue 5 2005HAKAN AKAN Abstract We report a case of mucinous cystadenoma in a horseshoe kidney which radiologically resembled a simple renal cyst. In the published literature, three cases of mucinous cystadenoma of renal origin have been reported. Although these tumors are believed to originate from the renal pelvis, the cyst in the present case originated from renal parenchyma. The significance of this particular case is the radiological features, which mimick a simple renal parenchymal cyst and contribute to the histopathological definition of an extremely rare disease. [source] Gorham-Stout Syndrome: A Monocyte-Mediated Cytokine Propelled Disease,JOURNAL OF BONE AND MINERAL RESEARCH, Issue 2 2006Silvia Colucci Abstract We studied the biological features and the immunophenotype of a cell culture established from the lesion of soft tissues of a woman affected by Gorham-Stout syndrome. We found that these cells belonged to a monocytic lineage with some characteristics of immature osteoclasts and were able to release large amounts of osteoclastogenic and angiogenic molecules that may contribute to disease progression. Introduction: Gorham-Stout syndrome is a rare disease characterized by osteolysis and proliferation of vascular or lymphatic vessels, with a severe outcome. Its etiology and the identification of the cell types involved are completely unknown. Materials and Methods: A cell culture from a lesion of soft tissues was established, and its behavior in vitro and in immunodeficient mice was studied. We analyzed (1) the cell phenotype by flow cytometry; (2) the adhesive and migratory properties on different substrates; (3) the ability to differentiate into mature osteoclasts; (4) the production of osteclastogenic and angiogenic molecules; (5) the in vivo angiogenic activity of the cells subcutaneously implanted in mouse in a Matrigel plug; and (6) the ability to recapitulate the disease when transplanted in nude mice. Results and Conclusions: The established culture consisted of a morphologically homogeneous cell population belonging to a monocytic lineage having some features of an osteoclast-like cell type. Cells had an invasive phenotype, were angiogenic, and produced osteoclastogenic (IL-6, TGF-,1, IL-1,) and angiogenic (vascular endothelial growth factor-A {VEGF-A}, CXCL-8) molecules when challenged with inflammatory cytokines. Immunodeficient mice injected with these cells did not show any bone lesions or vascular alteration, but had high amounts of circulating human IL-6 and VEGF-A. Cells isolated from a cutaneous lymphangiomatosis did not show any of these findings. These data suggest that cells of monocyte-macrophage lineage play an essential role in the pathogenesis of Gorham-Stout disease, whose progression is propelled by cytokine circuits that accelerate angiogenesis and osteoclastogenesis. [source] Successful Mitral Valve Surgery in a Patient with Myasthenia GravisJOURNAL OF CARDIAC SURGERY, Issue 2 2009Cüneyt Narin M.D. Most of the patients die because of a respiratory failure toward the end of the disease. A 49-year-old male patient with MG in whom a thymectomy operation had been performed five years ago had dyspnea, palpitation, and chest pain during his admission. After his examination, a severe mitral regurgitation was detected, and he underwent a successful mitral valve replacement. A general anesthesia management was performed using sufentanyl and propophol without any muscle relaxant agent. He was extubated seven hours after the surgery. He had difficulty in swallowing at postoperative day three, and his medication doses were increased. He was discharged from the hospital at postoperative day seven without any complication. MG is a rare disease and may cause morbid complications during the cardiac surgery, but can be successfully managed. [source] Postpartum plasma exchange as adjunctive therapy for severe acute fatty liver of pregnancyJOURNAL OF CLINICAL APHERESIS, Issue 4 2008James N. Martin Jr. Abstract Acute fatty liver of pregnancy (AFLP) is a rare disease of progressive hepatic insufficiency and secondary systemic compromise that poses significant fetal-maternal risk. Plasma exchange (PEX) is an effective bridge therapy to sustain liver function and enable hepatocellular regeneration to occur in nonpregnant patients following acute decompensation of a chronic liver disease or while awaiting liver transplantation. The application of PEX for patients with AFLP is a novel concept; since 1988 we have utilized postpartum PEX (PPEX) as adjunctive medical therapy for six patients with severe AFLP. Before PPEX initiation, four patients had signs and symptoms of encephalopathy, three required ventilatory support, five had advanced liver insufficiency, and all six were developing renal failure. PPEX was initiated 2,8 days following delivery and repeated (two to four times, mean = 3) at 24,48-h intervals thereafter. All patients responded with composite clinical (symptoms/signs) and laboratory improvement; the average length of hospitalization following final PPEX for five of six patients was 7 days. No significant PPEX-related complications occurred. PPEX utilization in patients with severe AFLP may enhance maternal recovery by preventing secondary sequelae from hepatic insufficiency until spontaneous healing can occur. Further study appears to be indicated to validate a role for PPEX as supportive therapy for puerperal patients with AFLP suffering multiorgan failure. J. Clin. Apheresis, 2008. © 2008 Wiley-Liss, Inc. [source] Thrombotic thrombocytopenic purpura: 24 years of experience at the American University of Beirut Medical CenterJOURNAL OF CLINICAL APHERESIS, Issue 3 2004Ali Shamseddine Abstract Thrombotic thrombocytopenic purpura (TTP) is a hematological syndrome defined by the presence of thrombocytopenia and microangiopathic hemolytic anemia without a clinically apparent etiology. Patients may also suffer from fever in addition to neurological and renal impairment. Treatment should be initiated as soon as possible, otherwise this rare disease can be fatal. The main treatment options include therapeutic plasma exchange, fresh frozen plasma infusion, and adjuvant agents such as steroids and antiplatelet drugs. A search of patient records was carried out at the American University of Beirut Medical Center looking for patients who developed TTP over a 24-year period extending from 1980 to 2003. Relevant information was collected and analyzed. A total of 47 records were found. All presented with anemia and thrombocytopenia, 83% had neurological symptoms, 61.7% had fever and 34% had renal impairment. All patients were treated with a multimodality regimen including therapeutic plasma exchange, FFP infusion, steroids, antiplatelet agents, vincristine and others. 38 (81%) cases achieved complete remission. Out of these, 12 (31.6%) relapsed and responded to treatment. Patients who did not receive plasma exchange were more likely to relapse (P = 0.032). A second relapse was observed in 6 cases. The overall mortality rate from TTP over 24 years was 21.3%. TTP remains a fatal disease. A high index of suspicion should, therefore, always be present. Treatment options should be further developed and patients should directly be referred to tertiary care centers. J. Clin. Apheresis 19:119,124, 2004. © 2004 Wiley-Liss, Inc. [source] Igloo-like prepuce: a peculiar aspect of smooth-muscle hamartoma of the genitalia?JOURNAL OF CUTANEOUS PATHOLOGY, Issue 2 2005Paolo Sbano Histopathological examination consisting of classical microscopy, immuno-histochemistry and electronmicroscopy of the surgical material provided insights into the etiopathogenesis of this rare disease. [source] Peritoneal mesothelioma presenting as an acute surgical abdomen due to jejunal perforationJOURNAL OF DIGESTIVE DISEASES, Issue 4 2007Nikolaos S SALEMIS BACKGROUND: Peritoneal mesothelioma is a rare disease associated with poor prognosis. Acute abdomen as the first presentation is an extremely rare occurrence. We report an exceptional case of a patient who was found to have a jejunal perforation due to infiltration of peritoneal mesothelioma. METHODS: A 62-year-old man was admitted with clinical signs of peritonitis. Computerized tomographic scans showed a mass distal to the ligament of Treitz, thickening of the mesentery and a small amount of ascites. RESULTS: Emergency laparotomy revealed a perforated tumor 15 cm distal to the ligament of Treitz and diffuse peritoneal disease. Segmental small bowel resection and suboptimal cytoreduction were performed. Histopathology and immunohistochemistry showed infiltration of malignant mesothelioma. During the postoperative period pleural mesothelioma was also diagnosed. Despite adjuvant chemotherapy, the patient died of disseminated progressive disease 7 months after surgery. CONCLUSIONS: Peritoneal mesothelioma is a rare malignancy with grim prognosis. Small bowel involvement is a poor prognostic indicator. Our case of a small bowel perforation due to direct infiltration by peritoneal mesothelioma appears to be the first reported in the English literature. [source] Unexpectedly high incidence of indigenous acute hepatitis E within South Hampshire: Time for routine testing?JOURNAL OF MEDICAL VIROLOGY, Issue 2 2008Aminda N. De Silva Abstract Hepatitis E indigenous to developed countries (hepatitis EIDC) is a form of hepatitis E in persons with no travel history to highly endemic areas. It has been recognized recently as an emerging clinical entity in a significant number of economically developed countries including UK. However, it is still perceived as a rare disease and routine laboratory testing for hepatitis E is not performed. A series of 13 cases of hepatitis EIDC, diagnosed in a 13-month period from June 2005 within a single center in South Hampshire, UK, is presented. These patients were identified after implementing a novel-screening algorithm that introduced routine hepatitis E serological investigations. Patients were middle aged or elderly and males were affected more commonly. Four patients (31%) required hospital admission. All reverse transcriptase-polymerase chain reaction (RT-PCR) confirmed cases carried hepatitis E virus (HEV) genotype-3, which bore close sequence homology to HEV circulating in UK pigs. None of these patients recalled eating undercooked pork products or close contact with pigs during the 2 months preceding the onset of acute hepatitis. In comparison, during the same period, only two cases of hepatitis A and five cases of acute hepatitis B were diagnosed. These data illustrate the importance of introducing routine hepatitis E testing in all patients with unexplained acute liver disease and absence of relevant travel history. Routine testing can clarify hepatitis E epidemiology whilst improving the clinical management of patients with acute liver disease. J. Med. Virol. 80:283,288, 2008. © 2007 Wiley-Liss, Inc. [source] Ligneous inflammation involving the female genital tractJOURNAL OF OBSTETRICS AND GYNAECOLOGY RESEARCH (ELECTRONIC), Issue 4 2007Abdullah Karaer Abstract Ligneous inflammation is a rare disease characterized by progressive growth of ligneous plaques on mucosal surfaces. Involvement of the female genital tract is an unusual condition. We present a patient with multifocal ligneous inflammation involving her genital tract, oral mucosa and conjunctiva. Plasminogen functional activity was 18% of normal (reference: 55,145%). Molecular analysis exhibited that her genetic status is homozygous for a combination of three polymorphisms. But no true mutation could be found in all 19 exons of the plasminogen gene. We did not observe any clinical changes, although plasminogen activity has improved in the course of 5 months of oral contraceptive therapy Most gynecologists are unfamiliar with this diagnosis and pathologists with wide experience in gynecology are unaware of this disease. However, the histology of lesions is characteristic and a diagnosis can be made quite easily once it has been considered. [source] | ||||||||||||||||||||||||||||||||||||||||||||||