PubMed, the Internet portal of biomedical and life sciences literature, indexed an interesting article, entitled “Successful removal of a slowly growing mediastinal cavernous haemangioma after vascular embolization” (Respirology. 2006 Jul;11(4):493-5). Authors are Lee SY, Lee JH, Hur GY et al, from the Department of Internal Medicine, College of Medicine, Korea University, Seoul, Korea. Mediastinal haemangioma is a rare disease. The authors report a 23-year-old male patient with a posterior mediastinal cavernous haemangioma. The CXR revealed a progressively enlarging mediastinal mass which on chest CT and angiography appeared to be a well-enhanced hypervascular tumour. The mass lesion following surgical removal was shown to be a cavernous haemangioma on histological examination. To access the full abstract of the article, click here.
Publications
A new disease profile is added to our database – Congenital factor XIII deficiency. Hereditary factor XIII deficiency is a rare bleeding disorder mostly due to mutations in FXIII A subunit. Seven novel mutations were identified in the FXIIIA gene. Factor XIII (FXIII) is a plasma transglutaminase circulating in blood as a heterotetramer and consisting of two catalytic A subunits and two non-catalytic B subunits. It is a proenzyme activated by thrombin in the blood coagulation cascade. Coagulation factor XIII is a transglutaminase that catalyzes crosslink formation in fibrin clots. Although originally described as the final enzyme in the clotting cascade, FXIII is now recognised to play a role throughout the clotting process. FXIII plays an important role(s) in hemostasis, wound healing and maintenance of pregnancy. To receive a full description of this rare disease absolutely free of charge, please click here and send us a request. The profile was written by our consultant in pediatrics – Dr. Iliana Pacheva, MD.
PubMed, the Internet portal of biomedical and life sciences literature, indexed an interesting article, entitled “POEMS syndrome-related pulmonary hypertension is steroid-responsive” (Respir Med. 2006 Jun 13). Authors are Jouve P, Humbert M, Chauveheid MP et al, from the Service de Medecine Interne, Hopital Bichat, Paris, France. The POEMS (Polyneuropathy, Organomegaly, Endocrinopathy, Monoclonal immunoglobulin, Skin changes) syndrome is a rare disease that entails a specific risk for pulmonary arterial hypertension. The authors report on 2 patients who suffered from POEMS syndrome and pulmonary arterial hypertension for whom a detailed hemodynamic pulmonary study was obtained before and after steroid treatment. Under high-dose steroids treatment, clinical symptoms disappeared and PH assessment by sequential hemodynamic study showed a clear-cut improvement in both patients. 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 “Expression of the interferon-induced Mx proteins in biliary atresia”/b”> (J Pediatr Surg. 2006 Jun;41(6):1139-43). Authors are Al-Masri AN, Flemming P, Rodeck B et al, from the Department of Pediatric Surgery, Medical School Hannover, Germany. Biliary atresia (BA) is a rare disease of the newborn for which the Kasai procedure is curative only for a few of the patients. The dilemma is that all therapeutic attempts to cure the disease are symptomatic because the etiology is still unclear One theory suggests a progressive inflammatory process, possibly induced by a viral infection. The aim of the present study was to investigate the activity of type I interferons (IFNs) in the livers of patients with BA. Mx proteins, which mediate an early innate immune response, are a very sensitive marker for type I IFN activity (eg, to viral infection). This is the first study dealing with the detection of type I IFN activity in the liver of patients with BA. To access the full abstract of the article, click here.
On 13 April 2006, a new orphan medicinal product was registered into the community register of orphan medicinal products under the EU orphan designation number 364. The active ingredient is sorafenib tosylate for treatment of hepatocellular carcinoma.
PubMed, the Internet portal of biomedical and life sciences literature, indexed an interesting article, entitled “From gene to disease; the PABN1 gene and oculopharyngeal muscular dystrophy” (Ned Tijdschr Geneeskd. 2006 May 20;150(20):1124-6). Authors are Schreuder AH, de Die-Smulders CE, Herbergs J et al from the Atrium Medisch Centrum, afd Neurologie, Heerlen. Oculopharyngeal muscular dystrophy is a rare disease, presenting with bilateral ptosis and dysphagia, followed by slow progressive muscle weakness. The pathological hallmark of the disease is the presence of intranuclear inclusions in muscle cells. Inheritance is autosomal dominant in almost all cases. The mutation responsible is a short guanine-cytosine-guanine (GCG) expansion in the ‘poly adenylate binding nuclear I protein’ (PABN1) gene. 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 “Myotonia congenital – a successful response to carbamazepine” (Indian J Pediatr. 2006 May;73(5):431-3 ). Authors are Savitha MR, Krishnamurthy B, Hyderi A et al, from the Department of Pediatrics, Government Medical College, Mysore, India. Myotonia congenita is a rare disease of skeletal muscle characterized by painless myotonia, generalized muscular hypertrophy and a non-progressive course. The authors report a 10-year-old girl with myotonia, “Herculean appearance” and electromyographic confirmation of myotonic discharges. There was a dramatic response to carbamazepine. The aim of this report is to make the readers aware of this entity which can be easily controlled with medication and also prevented by genetic counseling. To access the abstract of the article, click here.
PubMed, the Internet portal of biomedical and life sciences literature, indexed an interesting article, entitled “C1-inhibitor (C1-INH) autoantibodies in hereditary angioedema. Strong correlation with the severity of disease in C1-INH concentrate naive patients.” (Mol Immunol. 2006 Jun 2). Authors are Varga L, Szeplaki G, Visy B et al, from the 3rd Department of Internal Medicine, Semmelweis University, Budapest, Hungary. The presence of autoantibodies to C1-inhibitor (C1-INH-Abs) is a hallmark of acquired C1-inhibitor deficiency. In a prospective study performed between 2001 and 2004 in 95 patients with Type I or II HAE, serum samples were tested for total activity of the classical pathway, C1q, C3, C4 and C1-inhibitor (C1-INH) concentration and activity levels, as well as the presence of IgG, IgA and IgM type anti-C1-inhibitor antibodies (C1-INH-Ab). The levels of the IgM C1-INH-Abs exhibited strong negative correlation to the C1-inhibitor concentration and functional activity, total classical complement pathway activity, and a positive correlation to total IgM concentration. Most probable production of these autoantibodies is the consequence of the activation of complement and other plasma enzyme systems during HAE attacks. 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 “Multicentric extra-abdominal fibromatosis: a rare case” (Z Orthop Ihre Grenzgeb. 2006 Mar-Apr;144(2):223-7). Authors are Ropke M, Kalinski T, Wordehoff H еt al., from the Orthopadische Universitatsklinik, Otto-von-Guericke-Universitat Magdeburg. Extra-abdominal aggressive fibromatosis is a benign fibroblastic neoplasia with an infiltrative nature and a high tendency of local recurrence. The authors report on a very rare case of multicentric fibromatosis. Low complaints led to considerable size of the tumours. 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 “Poorly differentiated and anaplastic thyroid cancer” (Cancer Control. 2006 Apr;13(2):119-28). Authors are Patel Kn and Shaha AR from the Head and Neck Service, Memorial Sloan-Kettering Cancer Center, New York, USA. Poorly differentiated thyroid carcinoma (PDTC) and anaplastic (undifferentiated) thyroid carcinoma (ATC) comprise a small subset of thyroid tumors that are associated with a poor prognosis and account for a significant portion of the morbidity and mortality related to thyroid cancer. Since management strategies vary between these two entities, it is important for clinicians to be able to differentiate PDTC from ATC. The authors reviewed the literature on PDTC and ATC and compared clinical and histopathologic features important in defining the disease process. The conclusions are that PDTC and ATC are rare diseases that carry a poor prognosis. Recognition of their different clinicopathologic features is important to the optimal management of these tumors. To access the full abstract of the article, click here.