PubMed, the Internet portal of biomedical and life sciences literature, indexed an interesting article, entitled “Evaluation of a Congenital Erosive and Vesicular Dermatosis.” (Pediatr Dermatol. 2007 Jul;24(4):384-386). Authors are Goncalves RV, Pessoa OM and Lowy G, from the Department of Dermatology, Federal University of State of Rio de Janeiro, Rio de Janeiro, Brazil. Congenital erosive and vesicular dermatosis healing with reticulated supple scarring is a rare disease first reported by Cohen et al in 1985. To date only 13 cases of this disease have been reported. This entity is characterized by the presence of erosions and vesicles at birth, usually affecting about 75% of the body which heals with reticulated scarring in weeks to months. The authors report a case of this disease related to a boy who was born with erosions affecting his head, trunk, and limbs. All lesions healed completely after 3 months with reticulated scarring without any clinical complications. To access the abstract of the article, click here.
orphan drugs
On 22 March 2007, a new orphan medicinal product was registered into the community register of orphan medicinal products under the EU orphan designation number 438. The active ingredient is Zanolimumab for treatment of peripheral T-cell lymphoma (nodal, other extranodal and leukaemic/disseminated).
On 22 March 2007, a new orphan medicinal product was registered into the community register of orphan medicinal products under the EU orphan designation number 437. The active ingredient is Idebenone for treatment of Duchenne muscular dystrophy.
PubMed, the Internet portal of biomedical and life sciences literature, indexed an interesting article, entitled “Management of Hereditary Angioedema in Pediatric Patients.” (Pediatrics. 2007 Aug 27). Authors are Farkas H, Varga L, Szeplaki G, et al., from the 3rd Department of Internal Medicine, Semmelweis University, Budapest, Hungary. hereditary angioneurotic edema (HAE) is a rare disorder caused by the congenital deficiency of C1 inhibitor. Recurring angioedematous paroxysms that most commonly involve the subcutis (eg, extremities, face, trunk, and genitals) or the submucosa (eg, intestines and larynx) are the hallmarks of hereditary angioneurotic edema. Manifestations occur during the initial 2 decades of life, but even today there is a long delay between the onset of initial symptoms and the diagnosis of hereditary angioneurotic edema. The authors review their experience and published data to provide an approach to hereditary angioneurotic edema in childhood. To access the full abstract of the article, click here.
On 22 March 2007, a new orphan medicinal product was registered into the community register of orphan medicinal products under the EU orphan designation number 436. The active ingredient is eptacog alfa (activated) for treatment of post-neonatal intracerebral haemorrhage.
PubMed, the Internet portal of biomedical and life sciences literature, indexed an interesting article, entitled “Ventricular arrhythmias during Tako-tsubo syndrome.” (Int J Cardiol. 2007 Aug 14). Authors are Bonello L, Com O, Ait-Moktar O, et al., from the Département de cardiologie, Hôpital universitaire Nord, Marseille, France. Tako-tsubo syndrome is a recently described form of cardiomyopathy. Its pathophysiology remains unknown. However, the main demographic, clinical, electrocardiographic and biologic characteristics of the disease have been described by previous reports. Retrospective studies are essential to help describe this rare disease, although they might have several skews. Previous reports have observed a mortality rate between 0 and 8%. Tako-tsubo syndrome may present as sudden death and its mortality rate may have been underestimated in previous reports. To access the full abstract of the article, click here.
Fucosidosis
PubMed, the Internet portal of biomedical and life sciences literature, indexed an interesting article, entitled “Fucosidosis: MRI and MRS findings.” (Pediatr Radiol. 2007 Aug 18). Authors are Oner AY, Cansu A, Akpek S, et al, from the Department of Radiology, Gazi University School of Medicine, Ankara, Turkey. Fucosidosis is a rare, autosomal recessive lysosomal storage disease in which fucose-containing glycolipids, glycoproteins, and oligosaccharides accumulate in tissues as a consequence of alpha-L: -fucosidase enzyme deficiency. The authors present the MR imaging findings of diffuse white-matter hyperintensity and pallidal curvilinear streak hyperintensity in a 6-year-old Caucasian girl with a diagnosis of fucosidosis based on cDNA isolated from skin fibroblasts. To access the full abstract of the article, click here.
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.
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.
On 17 April 2007, a new orphan medicinal product was registered into the community register of orphan medicinal products under the EU orphan designation number 434. The active ingredient is pralatrexate for treatment of peripheral T-cell lymphoma (nodal, other extranodal and leukaemic/disseminated).