On 22 February 2007, a new orphan medicinal product was registered into the community register of orphan medicinal products under the EU orphan designation number 435. The active ingredient is recombinant human C1-inhibitor for prevention of delayed graft function after solid organ transplantation.
Publications
PubMed, the Internet portal of biomedical and life sciences literature, indexed an interesting article, entitled “Outcome of renal transplantation in patients with hemolytic uremic syndrome.” (Clin J Am Soc Nephrol. 2006 Jan;1(1):88-99). Authors are Bresin E, Daina E, Noris M, et al., from the Mario Negri Institute for Pharmacological Research, Clinical Research Center for Rare Diseases Aldo e Cele Daccò, 24020 RANICA (Bergamo), Italy. More than 50% of patients with non-Shiga toxin-associated hemolytic uremic syndrome (non-Stx-HUS) progress to end-stage renal disease (ESRD). The aim of this study was to identify possible prognostic factors for renal transplant outcome by focusing on specific genetic abnormalities associated with the disease. All articles in literature that describe renal transplant outcome in patients with ESRD secondary to non-Stx-HUS, genotyped for CFH, MCP, and IF mutations, were reviewed, and data of patients who were referred to the International Registry of Recurrent and Familial HUS/TTP and data from the Newcastle cohort were examined. This study confirmed that the overall outcome of kidney transplantation in patients with non-Stx-HUS is poor, with disease recurring in 60% of patients, 91.6% of whom developed graft failure. The presence of a factor H (CFH) mutation was associated with a high incidence of graft failure (77.8 versus 54.9% in patients without CFH mutation). Similar results were seen in patients with a factor I (IF) mutation. In contrast, graft outcome was favorable in all patients who carried a membrane co-factor protein (MCP) mutation. 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 “Abdominal tuberculosis: a surgical reality.” (Chirurgia (Bucur). 2007 May-Jun;102(3):303-8). Authors are Tarkoveanu E, Filip V, Moldovanu R, et al., from the Clinica I Chirurgie, Spitalul Sf. Spiridon, Iaşi. Abdominal tuberculosis is a rare disease, with non-specific findings. In this article the records of 22 patients diagnosed with abdominal tuberculosis (TBC) between 1995 and 2006 were analyzed retrospectively and the literature was reviewed. Postoperatory evolution and management were applied by the TBC Medical System and the patients were treated 6 months by tuberculostatics, with favorable evolution. Abdominal tuberculosis should be considered for diagnosis, in patients with non-specific symptoms of abdominal pain, fever, loss of appetite, abdominal distension and even symptoms of acute abdomen. 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 “Multifocal calcifying epithelial odontogenic tumor.” (Oral Surg Oral Med Oral Pathol Oral Radiol Endod. 2007 Aug;104(2):e30-4). Authors are Sedghizadeh PP, Wong D, Shuler CF, et al., from the Division of Diagnostic Sciences, Center for Craniofacial Molecular Biology, School of Dentistry, University of Southern California, Los Angeles, USA. The calcifying epithelial odontogenic tumor (CEOT), or Pindborg tumor, is a rare and benign odontogenic neoplasm that affects the jaw. The most common manifestation of CEOT is a unifocal or localized lesion of the involved jaw, which may appear clinically as a hard tissue swelling and radiographically as a mixed radiolucent-radiopaque mass. In this article, the authors present a unique case of CEOT affecting multiple sites in the maxilla and mandible of a 51-year-old white man. Though biopsy samples from all involved sites revealed similar histopathologic features consistent with CEOT, the fact that there was a multifocal presentation is an unusual phenomenon for CEOT and has never been reported. 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 “New Approaches to the Treatment of Dense Deposit Disease.” (J Am Soc Nephrol. 2007 Aug 5). Authors are Smith RJ, Alexander J, Barlow PN, et al.. The development of clinical treatment protocols usually relies on evidence-based guidelines that focus on randomized, controlled trials. For rare renal diseases, such stringent requirements can represent a significant challenge. Dense deposit disease (DDD; also known as membranoproliferative glomerulonephritis type II) is a prototypical rare disease. It affects only two to three people per million and leads to renal failure within 10 yr in 50% of affected children. On the basis of pathophysiology, this article presents a diagnostic and treatment algorithm for patients with DDD. Treatment options include aggressive BP control and reduction of proteinuria, and on the basis of pathophysiology, animal data, and human studies, plasma infusion or exchange, rituximab, sulodexide, and eculizumab are additional options. 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 “FANCD2 depletion sensitizes cancer cells repopulation ability in vitro.” (Cancer Lett. 2007 Jul 20). Authors are Lyakhovich A and Surralles J, from the Group of Mutagenesis, Department of Genetics and Microbiology, Universitat Autònoma de Barcelona; Centre for Biomedical Research on Rare Diseases (CIBERER), Instituto de Salud Carlos III, Spain. Inactivation of Fanconi anemia/BRCA pathway in some cancers causes increased sensitivity to various drugs used for chemo-therapy. Several approaches have been suggested to artificially disrupt this pathway for better treatment. In their study, the authors have utilized RNA interference technique to knock-down the expression of FANCD2 and sensitize cancer cells undergoing treatment with DNA damaging agents. The authors could show that knocking-down FANCD2 gene expression increases sensitivity of cancer cells to mitomycin C and to less extent to gamma-rays. Importantly, this effect strongly correlates to repopulation ability of cancer cells and those cell lines with significant FANCD2 depletion revealed decreased recurrence capacity. To access the abstract of the article, click here.
PubMed, the Internet portal of biomedical and life sciences literature, indexed an interesting article, entitled “Genitourinary manifestations of lymphoma.” (Aktuelle Urol. 2007 Jul;38(4):324-7). Authors are Schultz A, Maruschke M, Leithauser bM, et al., from the Schultz A, Maruschke M, Leithäuser M, Seiter H. Urologische Klinik und Poliklinik. Non-Hodgkin lymphoma (NHL) of the genitourinary system is a very rare disease. Only 1 % of NHL are primary genitourinary lymphomas. Secondary infiltration from disseminated lymphoma can be found in all the genitourinary organs. The authors report on five patients with genitourinary lymphoma: one case of primary testicular lymphoma and four patients with secondary lymphomatous infiltration of kidney, bladder, prostate and testicles, respectively. The clinical courses are described and the current literature is reviewed. The mostly radical procedures are performed for curative purposes after an incorrect diagnosis of a malignant organ cancer without even recognizing or considering NHL in the differential diagnosis. 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 “Holocord intramedullary abscess.” (Indian J Pediatr. 2007 Jun;74(6):589-91). Authors are Kalia V, Vibhuti and Aggarwal T, from the Department of Radiodiagnosis, Dayanand Medical College and Hospital, Ludhiana, India. Intramedullary spinal cord abscess secondary to dorsal dermal sinus is a rare entity and involvement of the entire length of spinal cord is even rarer. A thorough history with precise clinical localization, a high index of suspicion, Magnetic Resonance Imaging (MRI) of spine and prompt surgical drainage with appropriate antibiotic therapy are key to the eventual outcome and prognosis. To access the abstract of the article, click here.
PubMed, the Internet portal of biomedical and life sciences literature, indexed an interesting article, entitled “Prognostic factors of retroperitoneal soft tissue sarcomas.” (Chin Med J (Engl). 2007 Jun 20;120(12):1047-50). Authors are Chen CQ, Yin L, Peng CH, et al., from the Department of General Surgery, Ruijin Hospital, Shanghai, China. Retroperitoneal sarcoma is a rare disease with poor prognosis. The aim of this study was to investigate the prognostic factors of the disease. Between January 1988 and December 2003, 132 patients with retroperitoneal sarcoma received sergical treatment. Their clinicopathological data including tumor size, histological subtype, grade and resection margin status were studied. The Kaplan-Meier method and log-rank test were used to analyze the disease-specific survival rates after the resection. Completeness of resection, tumor volume, grade, and subtype are prognostic factors of retroperitoneal soft tissue sarcomas. 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 “Paroxysmal nocturnal hemoglobinuria.” (Rev Prat. 2007 Apr 15;57(7):701-3). Authors are Peffault de Latour R and Socie G, from the Service d’hématologie-greffe, hôpital Saint-Louis, Paris, France. Paroxysmal nocturnal haemoglobinuria is a rare clonal disease of the hematopoietic stem cell. Since the 80’s considerable advances in the biology of this rare disease have been done. The pathophysiology, recent advances in the diagnosis and treatment of this disease are reviewed, pointing out, however, the yet unanswered question with regard to the biology and treatment. To access the abstract of the article, click here.