PubMed, the Internet portal of biomedical and life sciences literature, indexed an interesting article, entitled “Acute liver failure-medical viewpoints.” (Schweiz Rundsch Med Prax. 2006 Nov 29;95(48):1873-7). Authors are Schattenberg JM, Galle PR and Schuchmann M, from the Medizinische Klinik und Poliklinik, Johannes-Gutenberg-Universitat, Mainz. Acute liver failure is a rare disease that can cause death in the majority of untreated cases. Sudden loss of liver function in the absence of a preexisting liver disease is considered the true form and has to be distinguished from impaired function following exacerbation of an underlying liver disease (acute or chronic failure). Common causes include acute viral hepatitis, drug induced liver injury (DILI) and toxins. The loss of the excretory and synthetic function of the liver marks the clinical presentation and results in icterus, coagulopathy and encephalopathy. Additionally impairment of renal function and sepsis occur and contribute to the high mortality of this disease. To access the full abstract of the article, click here.
Publications
PubMed, the Internet portal of biomedical and life sciences literature, indexed an interesting article, entitled “Chronic thromboembolic pulmonary hypertension.” (Semin Thromb Hemost. 2006 Nov;32(8):848-55). Authors are Piovella F, D`armini AM, Barone M, et al., from the IRCCS Policlinico San Matteo, Pavia, Italy. Chronic thromboembolic pulmonary hypertension (CTEPH) is a rare disease that results from obstruction of the major pulmonary arteries by incompletely resolved or organized pulmonary emboli that have become incorporated into the pulmonary artery wall, eventually causing an increase in pulmonary vascular resistance. From 0.1 to 4.0% of patients recovering from acute pulmonary embolism develop CTEPH. Without intervention, CTEPH is a progressive and lethal disease for which there is no effective medical therapy. Pulmonary endarterectomy (PEA) is the treatment of choice. Careful pre- and postoperative management is essential for a successful outcome after PEA. Lung transplantation is indicated only in few cases when PEA is not feasible. To access the full abstract of the article, click here.
PubMed, the Internet portal of biomedical and life sciences literature, indexed an interesting article, entitled “Dunbar’s syndrome and aorto-mesenteric compression. A casual association?” (Chir Ital. 2001 Jul-Aug;53(4):515-21). Authors are Sianesi M, Dalla Valle R, Del Rio P, et al., from the Istituto di Clinica Chirurgica Generale e dei Trapianti d’Organo Universita di Parma, Italy. Celiac artery compression syndrome and superior mesenteric artery syndrome are two rare diseases with a pathogenesis which is still controversial. Only one case of association between these two syndromes has been reported. In this paper the authors analyse the pathogenesis, clinical presentation, diagnosis and treatment of these syndromes emphasising their common aspects. The association of the coeliac artery compression syndrome and superior mesenteric artery syndrome has never been thoroughly studied because of their rarity. The lack of recognition of this association may, in some cases, justify the controversial results reported in the surgical treatment of these syndromes. To access the full abstract of the article, click here.
PubMed, the Internet portal of biomedical and life sciences literature, indexed an interesting article, entitled ”Medullary thyroid cancer and the impact of genetic testing.” (Clin J Oncol Nurs. 2006 Oct;10(5):571-5). Authors are Keatts EL and Itano J, from the San Angelo Community Medical Center, Texas, USA. Medullary thyroid cancer (MTC) consists of a rare, undifferentiated tumor and often is described as having a chronic and indolent disease process. Approximately 5%-10% of all thyroid malignancies are MTC, and about 25% of patients diagnosed with the disease have a genetic form that was inherited through a mutation of the RET proto-oncogene. The mutation is expressed by an autosomal dominant allele and, if inherited, has almost a 100% chance of developing into a malignancy. Detection of the germline mutation identifies individuals at risk and enables prophylactic treatment for the prevention of MTC. To access the full abstract of the article, click here.
PubMed, the Internet portal of biomedical and life sciences literature, indexed an interesting article, entitled ”Biology of langerhans cells and langerhans cell histiocytosis.” (Int Rev Cytol. 2006;254:1-43). Authors are Bechan GL, Egeler RM and Arceci RJ, from the Department of Pediatric Immunology, Leiden University Medical Center, 2300 RC Leiden, The Netherlands; Division of Pediatric Oncology, Johns Hopkins Medical Institutions, Baltimore, Maryland, USA. angerhans cells (LC) are epidermal dendritic cells (DC). They play an important role in the initiation of immune responses through antigen uptake, processing, and presentation to T cells. Langerhans cell histiocytosis (LCH) is a rare disease in which accumulation of cells with LC characteristics (LCH cells) occur. LCH lesions are further characterized by the presence of other cell types, such as T cells, multinucleated giant cells (MGC), macrophages (MPhi), eosinophils, stromal cells, and natural killer cells (NK cells). In this review the authors discuss the properties and interactions of the different cells involved in LCH pathophysiology with the hope of better understanding this enigmatic disorder. To access the full abstract of the article, click here.
On 31 August 2006, a new orphan medicinal product was registered into the community register of orphan medicinal products under the EU orphan designation number 401. The active ingredient is N-methyl D-(2,3,4,5,6-pentahydroxy-hexyl)-ammonium; 2-(3,5-dichloro-phenyl)-benzoxazole-6-carboxylate for treatment of familial amyloid polyneuropathy .
PubMed, the Internet portal of biomedical and life sciences literature, indexed an interesting article, entitled ”Generalized lymphangiomatosis: radiologic findings in three pediatric patients.” (Korean J Radiol. 2006 Oct-Dec;7(4):287-91 ). Authors are yang DH and Goo HW, from the Department of Radiology, University of Ulsan College of Medicine, Asan Medical Center, Seoul, Korea. Generalized lymphangiomatosis is a rare disease that is characterized by widespread bony and soft tissue involvement of lymphangioma. Radiological evaluation is crucial because the site and extent of the lymphangioma are important prognostic factors. The authors reported three cases of generalized lymphangiomatosis and all three cases showed similar radiologic findings, but a different clinical course. To access the full abstract of the article, click here.
PubMed, the Internet portal of biomedical and life sciences literature, indexed an interesting article, entitled ”Bartonella henselae as a cause of optical nerve neuritis.” (Vojnosanit Pregl. 2006 Nov;63(11):971-4). Author is Veselinovic D, from the Klinicki centar, Klinika za ocne bolesti, Nis, Srbija. Bartonella henselae is included into the group of gram-negative bacteria that can cause not so rare disease known as cat-scratch disease (CSD). This disease is characterized by the specific general symptoms, and the complications in the eyes can be manifested in the form of neuroretinitis, follicular conjunctivitis and focal chorioretinitis. In this paper clinical and epidemiological characteristics of a patient with ophthalmologic complications caused by Bartonella henselae are described. The author indicates diagnostic possibilities and the criteria for making the diagnosis. In spite of the good prognosis for the general condition of a patient, it is advised to apply antibiotic therapy in the cases where ophthalmologic complications appear. To access the full abstract of the article, click here.
PubMed, the Internet portal of biomedical and life sciences literature, indexed an interesting article, entitled “Complement factor H gene abnormalities in haemolytic uraemic syndrome: from point mutations to hybrid gene.” (PLoS Med. 2006 Oct;3(10):e432 ). Authors are Noris M and Remuzzi G, from the Mario Negri Institute for Pharmacological Research, Clinical Research Center for Rare Diseases Aldo e Cele Dacco, Transplant Research Center, Ranica, Bergamo, Italy. A typical haemolytic uraemic syndrome (HUS) is a rare disease involving haemolytic anaemia, thrombocytopenia, and renal failure. There is growing evidence that the disease is associated with defective control of the alternative pathway of complement. Genetic abnormalities in complement regulatory proteins, including complement factor H (CFH), membrane cofactor protein, and complement factor I, have been reported in 30%, 10%, and 5% of patients with HUS, respectively. CFH is a plasma protein produced by the liver that acts as a central regulator in the alternative pathway of complement activation. The gene encoding CFH is situated, together with genes for five factor H-related proteins (CFHL1–5), within the regulator of complement activation (RCA) gene cluster at chromosome position 1q32. Identification of the specific genetic defect in patients with HUS could enhance diagnostic precision, predict clinical outcomes, and translate into improved management of the disease. To access the full abstract of the article, click here.
On 31 August 2006, a new orphan medicinal product was registered into the community register of orphan medicinal products under the EU orphan designation number number 400. The active ingredient is metastable technetium 99 [99mTc”> demogastrin 2 for use in case of diagnosis of medullary thyroid carcinoma.