A new disease profile is added to our database – Hailey-Hailey disease. Hailey-Hailey disease or chronic benign familial pemphigus, is a genodermatosis arising in adult age, around the third or fourth decades, with recurrent painful vesicles, erosions and scaly erythematous plaques primarily in the flexural areas such as the neck, axillae, groins and perineum. The profile was written by our consultant in dermatology – Dr. Ivelina Yordanova, MD, PhD
On 8/05/2008, a new orphan medicinal product was registered into the community register of orphan medicinal products under the EU orphan designation number 544. The active ingredient is Omigapil maleate for treatment of congenital muscular dystrophy with merosin (laminin alpha 2) deficiency.
A new disease profile is added to our database – Rieger syndrome. Rieger syndrome is a genetic disease with eye anomalies (Rieger anomaly), hypodontia, facial, kidney, intestinal and ear malformations, mental retardation. Mutations in a homeobox transcription factor gene, PITX2 localized in the long arm of chromosome 4: 4q25-26 (Rieger syndrome type 1). Linkage studies indicated that Rieger syndrome type 2 maps to the long arm of chromosome 13 (13q14).To receive more detailed information about the disease, please click here and send us a request. The profile was written by our consultant in medical genetics – Dr. Radka Stoeva, MD
PubMed, the Internet portal of biomedical and life sciences literature, indexed an interesting article, entitled Thrombotic thrombocytopenic purpura (Cleve Clin J Med. 2008 May;75(5):369-75). Authors are Crowther MA George JN. from the Division of Hematology, McMaster University, Hamilton, Ontario, Canada. Thrombotic thrombocytopenic purpura (TTP) is a spectrum of syndromes characterized by thrombocytopenia and microangiopathic hemolytic anemia, manifested by an elevated blood lactate dehydrogenase (LDH) concentration and red blood cell fragments. It classically occurs in patients with a hereditary or acquired lack of ADAMTS13, a metalloproteinase that cleaves large multimers of von Willebrand factor. Other TTP-like syndromes, including TTP associated with pregnancy, organ transplantation, and certain medications, likely have different underlying causes and may require different treatment. Unless TTP is recognized promptly and treated aggressively, most patients die of it. 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 [A bilateral diaphragmatic paralysis due to Parsonage and Turner syndrome (Rev Pneumol Clin. 2008 Jun;64(3):137-40). Authors are Guinard S Huchot E Couturaud F et al., from the Département de médecine interne et pneumologie, CHRU de la Cavale-Blanche, 5, avenue Foch, 29609 Brest cedex, France. The diaphragmatic paralysis is a rare disease whose causes and evolving forms are numerous. We report the development to eight years of paralysis diaphragmatic bilateral attributed to a Parsonage-Turner syndrome: the lack of recovery is proved by respiratory functional follow-up. The therapeutic possibilities, limited, are discussed. To access the full abstract of the article, click here.
On 3/06/2008, a new orphan medicinal product was registered into the community register of orphan medicinal products under the EU orphan designation number 546. The active ingredient is Alpha-1 proteinase inhibitor (inhalation use) for treatment of congenital alpha-1 antitrypsin deficiency.
PubMed, the Internet portal of biomedical and life sciences literature, indexed an interesting article, entitled Takotsubo cardiomyopathy in a 68-year old Russian female (Cases J. 2008 Jul 28;1(1):64). Authors are Jayawardena S Sooriabalan D Burzyantseva O et al., from the Dept of Cardiology, Coney Island Hospital, 2601 Ocean Parkway Brooklyn, NY 11235, USA. Takotsubo cardiomyopathy also known as transient left ventricular apical ballooning, stress-induced cardiomyopathy can present with retrosternal chest pain with EKG changes that can mimic a myocardial infraction. We present a 68 female with sudden onset retrosternal squeezing chest pain with positive cardiac enzymes and EKG changes suggestive of acute ST-elevation myocardial infraction. 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 Successful Bilateral Lung Transplantation for Lymphangiomatosis (Am J Transplant. 2008 Jul 28). Authors are Kinnier CV, Eu JP Davis RD et al., from the Division of Pulmonary Medicine, Duke University Medical Center, Durham, NC, USA. Lymphangiomatosis is a rare disease of lymphatic proliferation for which no adequate treatment is known. We report the first successful case of bilateral lung transplantation for the treatment of end-stage pulmonary lymphangiomatosis. A successful outcome was achieved with continued survival beyond 4 years posttransplant and stable lung function. Our report demonstrates that pulmonary lymphangiomatosis should be included among those diseases for which lung transplantation is considered potentially beneficial treatment. 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 Acute edema blisters in a hereditary angioedema cutaneous attack (Allergol Immunopathol (Madr). 2008 May-Jun;36(3):182-3.). Authors are Fernández Romero D Di Marco P Malbrán A et al., from the Hospital Británico de Buenos Aires. Argentina. Hereditary angioedema is a rare autosomal dominant disease characterized by recurrent episodes of acute edema affecting the skin and the respiratory and digestive tracts. Acute edema blisters or hydro-static bullae develop after rapid accumulation of interstitial fluid usually associated to cardiac insufficiency. Lesions contain sterile fluid and break up easily resolving without scars. Blisters disappear when fluid accumulation resolves. We describe a patient developing recurrent acute edema blisters as a consequence of cutaneous hereditary angioedema attacks. To access the full abstract of the article, click here.
On 10/07/2008, a new orphan medicinal product was registered into the community register of orphan medicinal products under the EU orphan designation number 554. The active ingredient is Beraprost sodium (modified release tablet)
for treatment of pulmonary arterial hypertension.