On 24 May 2006, a new orphan medicinal product was registered into the community register of orphan medicinal products under the EU orphan designation number 373. The active ingredient is mecasermin for treatment of primary insulin-like growth factor-1 deficiency due to molecular or genetic defects.
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PubMed, the Internet portal of biomedical and life sciences literature, indexed an interesting article, entitled “Primary aspergillosis of the sphenoid sinus with pituitary invasion – a rare differential diagnosis of sellar lesions.” Acta Neurochir (Wien). 2006 Jul 21). Authors are Pinzer T, Reiss M, Bourquain H et al, from the Klinik und Poliklinik fur Neurochirurgie, Universitatsklinikum Dresden, Dresden, Germany. Aspergillosis belongs to the group of mycotic diseases of paranasal sinuses. The invasive forms, and particularly the fulminant forms, are potentially fatal. Isolated aspergillosis of the sphenoid sinus or the clivus is a difficult diagnosis, since the often misleading clinical manifestations of this rare disease develop late. These patients become apparent by neurological signs such as cavernous sinus syndrome, pseudotumor of the pituitary or the orbit. Diagnosis is often made intra-operatively or on histological examination.The authors report a case of invasive aspergillosis uniquely involving the sellar area revealed by clinical features suggesting a pseudotumor of the pituitary. To access the full abstract of the article, click here.
A new disease profile is added to our database – Distal myopathies. The distal myopathies are a clinically and pathologically heterogeneous group of genetic disorders in which the distal muscles of the upper or lower limbs are selectively or disproportionately affected. The distal myopathies are rare, but characteristic clinical and histological features aid in their identification. Comparison of the different forms of distal myopathy has shown considerable phenotypic variability, both in terms of the age at which symptoms first develop and the pattern of differential involvement of the limb muscles and of other muscle groups such as those of the neck and face. The distal myopathies may be classified in several ways according to the mode of inheritance, clinical syndrome, age at onset (early and late onset forms) affected muscle groups and gene locus. 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 neurology – Dr. Pavel Balabanov, MD
PubMed, the Internet portal of biomedical and life sciences literature, indexed an interesting article, entitled “Management of congenital tracheomalacia: a single institution experience” (Cir Pediatr. 2006 Apr;19(2):55-60). Authors are Anton-Pacheco JL, Cano I, Garcia A еt al, from the Servicio de Cirugia Pediatrica, Hospital Universitario, Madrid, Spain. Congenital tracheomalacia (CTM) is a rare disease causing tracheal wall collapse when breathing. The authors show their experience in the management of this type of airway anomaly, settling the indications for surgical or endoscopic treatment. A retrospective study have been performed, from 1991 to 2003, of patients with a bronchoscopic diagnosis of CTM or bronchomalacia (BM). The following facts have been analyzed: sex, age, indication of the initial bronchoscopy, ethiology, clinical group, anatomic type, associated malformations, treatment modality, complications, results, and time of follow-up. The conclusions are that most patients with CTM can be treated conservatively though spontaneous resolution may he expected after the first year of life. Surgical or endoscopical procedures are indicated in those patients with severe respiratory symptoms. To access the full abstract of the article, click here.
On 24 May 2006, a new orphan medicinal product was registered into the community register of orphan medicinal products under the EU orphan designation number 372. The active ingredient is hydrocortisone (modified release tablet) for treatment of adrenal insufficiency.
PubMed, the Internet portal of biomedical and life sciences literature, indexed an interesting article, entitled “Inflammatory pseudotumor: a rare cause of proximal bronchial obstruction.” (Rev Pneumol Clin. 2006 Jun;62(3):183-6 ). Authors are Benothman H, Benhenneda R, Amade W et all, from the Service de Pneumologie, Clinique Medicale MGEN 1, Maisons-Laffitte, France. Inflammatory pseudotumor of the lung is a rare disease with usual benign course. The authors report the case of a 67-year-old woman with atelectasis of the left lung related to an endobronchial inflammatory pseudotumor. After laser resection, relapse occurred 3 months later, requiring surgical treatment. To access the full abstract of the article, click here.
On 24 May 2006, a new orphan medicinal product was registered into the community register of orphan medicinal products under the EU orphan designation number 371. The active ingredient is heparin sodium for treatment of cystic fibrosis.
PubMed, the Internet portal of biomedical and life sciences literature, indexed an interesting article, entitled “Mastocytosis and Hymenoptera venom allergy” (Curr Opin Allergy Clin Immunol. 2006 Aug;6(4):284-8). Authors are Rueff f, Placzek M and Przybilla B, from the Department of Dermatology and Allergology, Ludwig-Maximilians University, Munich, Germany. Mastocytosis is a rare disease characterized by increased mast cells in skin and/or internal organs. The authors evaluate the impact of mastocytosis on diagnosis and treatment of Hymenoptera venom allergy. The conclusions are that the patients suffering from mastocytosis and Hymenoptera venom allergy are at risk from a particularly severe sting anaphylaxis. They need optimal diagnosis and treatment. In patients presenting with Hymenoptera venom allergy, screening tests by measurement of serum tryptase concentration, and a careful skin examination, are highly recommended. To access the full abstract of the article, click here.
The 2nd Rare Neuroimmunologic Disorders Symposium will be held in Sheraton Inner Harbor Hotel, Baltimore, USA on 19 – 23 July, 2006. It is organized by the Johns Hopkins University School of Medicine and the Transverse Myelitis Association. The primary goal of this three and half day symposium is to bring together patients with rare neuroimmunologic disorders, professionals who provide medical treatment and care to this population, and basic and clinical scientists who specialize in research on these disorders. In addition, the goal of the course is to educate patients and their caregivers on the management of these rare disorders. More information you can find by clicking here.
On 24 May 2006, a new orphan medicinal product was registered into the community register of orphan medicinal products under the EU orphan designation number 369. The active ingredient is Bilayer engineered skin composed of keratinocytes from the patient (autologous) and fibroblasts from a donor (allogeneic) embedded in a plasma matrix for treatment of epidermolysis bullosa.