On 6 November 2006, a new orphan medicinal product was registered into the community register of orphan medicinal products under the EU orphan designation number number 408. The active ingredient is human cytomegalovirus immunoglobulin for prevention of congenital cytomegalovirus infection following primary cytomegalovirus infection.
Publications
PubMed, the Internet portal of biomedical and life sciences literature, indexed an interesting article, entitled “Monosomy 7 as the sole abnormality of an acute basophilic leukemia.” (Cancer Genet Cytogenet. 2007 Jan 15;172(2):168-71). Authors are Shin SY, Koo SH, Kwon KC et al., from the Department of Laboratory Medicine, Chungnam National University Hospital, Daejeon, South Korea. The authors report the case of a 72-year-old man who had the very rare disease acute basophilic leukemia (ABL) with the sole chromosomal finding of a monosomy 7. Most nuclear cells in the peripheral blood and bone marrow samples were either basophils or blasts. Electron microscopic evaluation showed the typical ultrastructure, with basophil and immature mast cell granules. Cytogenetic study revealed monosomy 7 in all metaphase cells, and this finding was confirmed by fluorescence in situ hybridization. The Philadelphia chromosome was absent. To the authors`s knowledge, the case reported here is the first to have basophilic leukemia with monosomy 7 as the only chromosome abnormality. 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 pancreatitis following naproxen intake.” (Eur J Emerg Med. 2006 Dec;13(6):372). Authors are Aygencel G, Akbuga B and Keles A, from the Department of Emergency Medicine, Gazi University Faculty of Medicine, Ankara, Turkey. Pancreatitis is a very rare complication of a few nonsteroidal anti-inflammatory drugs. In this paper, the authors report a 20-year-old male as a case of acute pancreatitis following a suicidal attempt with naproxen sodium. They believe that, in this case, the pancreatitis was another example of a rare adverse reaction to the intake of nonsteroidal anti-inflammatory drugs. To access the abstract of the article, click here.
PubMed, the Internet portal of biomedical and life sciences literature, indexed an interesting article, entitled “Successful treatment of childhood intramedullary spinal cord astrocytomas with irinotecan and cisplatin.” (Neuro-oncol. 2007 Jan;9(1):39-46. Epub 2006 Nov 15). Authors are Mora J, Cruz O, Gala S, et al., from the Department of Pediatric Oncology, Hospital Sant Joan de Deu, Barcelona, Passeig de Sant Joan de Deu numero 2, Barcelona, Spain. Childhood spinal cord astrocytomas are rare diseases, and their management is controversial. The authors report their successful experience using irinotecan and cisplatin in three consecutive infants with progressing intramedullary astrocytomas. The first patient was a 16-month-old girl who presented with a grade III intramedullary astrocytoma that rapidly progressed after surgery and adjuvant chemotherapy. Radiological complete remission was achieved 10 months after completion of therapy, and 3.5 years after diagnosis the patient remains disease free. The second patient was a 19-month-old boy. A marked clinical improvement occurred after the first cycle, and MRI showed a very good partial remission at the end of therapy. At 16 months after diagnosis, the patient remains disease free. The third patient was a 10-month-old girl. 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 “Drug evaluation: PTC-124-a potential treatment of cystic fibrosis and Duchenne muscular dystrophy.” (IDrugs. 2006 Nov;9(11):783-9). Author is Hamed SA, from the Saudi German Hospital – Aseer, Khamis Mushayt 61961, Saudi Arabia. PTC-124, a 1,2,4-oxadiazole compound, is in development as an orally active small molecule that can override nonsense stop translation signals to produce full-length proteins. PTC-124 is currently being evaluated in phase II clinical trials against cystic fibrosis (CF) and Duchenne muscular dystrophy (DMD). The functional properties of PTC-124 are similar to the aminoglycoside antibiotic gentamicin, but the two compounds are chemically distinct and PTC-124 does not exhibit any antibiotic characteristics. Phase I clinical trials reported that PTC-124 was well tolerated in healthy patients. The author concludes that the encouraging results observed to date make PTC-124 an attractive option for further well-designed, long-term human studies on larger sample populations. To access the abstract of the article, click here.
PubMed, the Internet portal of biomedical and life sciences literature, indexed an interesting article, entitled “Mastocytosis in childhood.” (Przegl Lek. 2006;63(7):551-3). Authors are Renke J and Lange M, from the Klinika Pediatrii, Gastroenterologii i Onkologii, Dzieciecej Akademii Medycznej w Gdansku. Mastocytosis is a rare multi-symptomatic disorder with overproduction and accumulation of mast cells in different tissues. Mast cells accumulate most often in skin, rarely in bone marrow, lymph nodes, liver and spleen. Symptoms of the disease may be due either to releasing of mediators that are present in mast cells or to affection of organs. Although mastocytosis is regarded as a rare disease in the population, among patients of dermatologists it is much more common. It concerns 5,4 caser per 1000 of cured children. 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 “Prognostic factors and management of rare cancers.” (Cancer Radiother. 2006 Nov;10(6-7):323-9. Epub 2006 Sep 6). Authors are Belkacemi Y, Zouhair A, Ozsahin M et al., from the Departements d’Oncologie-Radiotherapie et de Senologie, CLCC Oscar-Lambret et Faculte de Medecine, Universite de Lille-II, Lille, France. The management of rare cancers is controversial. The role of adjuvant therapies, such as chemotherapy and radiation therapy remains unclear. The limited number of patients included in the studies cannot generally allow any consistent statistical analysis to determine either prognostic factors or the impact of surgery and adjuvant therapies on local control and long-term survival. The Rare Cancer Network is a multi-institutional cooperative group created in 1993 to initiate large retrospective studies on rare cancers with the aim of improving our knowledge in terms of management, outcome, and prognostic factors of such tumors. The network gathers more than 70 institutions from 21 countries. To access the abstract of the article, click here.
PubMed, the Internet portal of biomedical and life sciences literature, indexed an interesting article, entitled “Muscle protein analysis in the detection of heterozygotes for recessive limb girdle muscular dystrophy type 2B and 2E.” (Neuromuscul Disord. 2006 Nov;16(11):792-9. Epub 2006 Aug 23). Authors are Fanin M, Nascimbeni AC and Angelini C, from the Department of Neurosciences, University of Padova, Italy. The diagnosis of isolated heterozygotes for recessive LGMD is quite difficult because no specific biochemical or protein assays are available, and the molecular analysis is not feasible due to the wide genetic heterogeneity. The authors investigated a series of definite heterozygotes for different forms of LGMD to determine whether the carrier status will result in a detectable protein defect in muscle biopsy. They have demonstrated the value of protein analysis in the identification of both familial and isolated LGMD2B heterozygotes, and suggested the use of dysferlin protein testing to select muscle biopsies from suspected carriers for a subsequent mutation analysis. Muscle protein analysis would be used to screen asymptomatic patients who underwent muscle biopsy because of unexplained hyperCKemia. To access the abstract of the article, click here.
PubMed, the Internet portal of biomedical and life sciences literature, indexed an interesting article, entitled “Mitral valvar regurgitation in a child with Sweet’s syndrome.” (Cardiol Young. 2006 Dec 22;:1-2). Authors are Stos B, Hatchuel Y and Bonnet D, from the Pediatric Cardiology, University Paris, France. The authors report the very unusual perforation of the mitral valve in the setting of Sweet’s syndrome, or acute febrile neutrophilic dermatosis, in a boy aged 5 years. Surgical repair was uneventful, and follow-up showed no residual anomalies. Acute or delayed valvitis, with damage to either the mitral or aortic valves, should be screened for in this rare disease. To access the abstract of the article, click here.
PubMed, the Internet portal of biomedical and life sciences literature, indexed an interesting article, entitled “Crystal storing histiocytosis of the skin associated with multiple myeloma.” (Int J Dermatol. 2006 Dec;45(12):1408-11). Authors are Pock L, Stuchlik D and Hercogova J, from the Dermatopathological Laboratory, Department of Dermatology, District Hospital Pardubice, Prague, Czech Republic. Crystal storing histiocytosis (CSH) imitating rhabdomyom is a very rare disease entity involving different tissues. The skin is involved in extremely rare cases. A 62-year-old woman presented with a large red infiltrated verrucosus lesion on the anterior aspect of the chest and on the neck. The skin biopsy revealed histiocytes throughout the whole dermis containing thin crystaloid structures in the cytoplasm. Upon histopathological examination, crystal-storing histiocytosis was diagnosed and consequently a hematological examination revealed multiple myeloma IgG Kappa. To access the full abstract of the article, click here.