PubMed, the Internet portal of biomedical and life sciences literature, indexed an interesting article, entitled The clinical picture of morphea (Przegl Lek. 2007;64(6):438-41). Authors are Wojas-Pelc A Wielowieyska-Szybińska D from the Katedra i Klinika Dermatologii, Collegium Medicum, Uniwersytetu Jagiellońskiego, Kraków. Skin scleroderma (LS) is characterised by stiffness of skin and/or deeper tissues. As opposed to systemic scleroderma, the involvement of internal organs and Raynaud phenomenon are predominately not observed in morphea. LS is quite rare disease, more frequent in women and young people. LS is divided into: plaque morphoea, generalised morphoea, blistering morphoea, linear morphoea and deep morphoea. Different types of skin scleroderma lesions can be observed in one patient or can combine linear and deep fibrosis. Presented classification is clinically useful and it has prognostic and therapeutic implications. 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 Volumetric cortical loss in sporadic and familial amyotrophic lateral sclerosis ( Amyotroph Lateral Scler. 2007 Dec;8(6):343-7). Authors are Turner MR Hammers A Allsop J et al., from the Department of Neurology, John Radcliffe Hospital, Oxford, UK. Patients homozygous for the D90A mutation of the SOD1 gene (homD90A) demonstrate slower progression of disease than those with sporadic ALS (SALS).Analyis of magnetic resonance images (MRIs) enables the detection of regional differences in grey matter volume, and can be used to localize cortical atrophy in vivo.The SALS group showed bilateral areas of atrophy mainly confined to motor and pre-motor cortices. Cortical changes in the homD90A group were more pronounced within the frontal lobes when both were compared with healthy controls. This study provides further evidence for a different pattern of cortical neuronal vulnerability in homD90A versus SALS patients that may provide insight as to their slower rate of disease progression. To access the full abstract of the article, click here.
On 20/12/2007, a new orphan medicinal product was registered into the community register of orphan medicinal products under the EU orphan designation number 516. The active ingredient is recombinant human histone H1.3 and recombinant human N-bis-met-histone H1.3 for treatment of acute myeloid leukaemia.
On 18/12/2007, a new orphan medicinal product was registered into the community register of orphan medicinal products under the EU orphan designation number 519. The active ingredient is Maribavir for prevention of cytomegalovirus (CMV) disease in patients with impaired cell mediated immunity deemed at risk.
PubMed, the Internet portal of biomedical and life sciences literature, indexed an interesting article, entitled Merosin-positive congenital muscular dystrophy: neuroimaging findings (Arq Neuropsiquiatr. 2007 Mar;65(1):167-9). Authors are Matta AP Gonsalves Mde C from the Sarah Network of Hospitals for Rehabilitation, Brazil. Congenital muscle dystrophy (CMD) is a heterogeneous group of autosomal recessive myopathies. It is known that CMD may affect the central nervous system (CNS). Some authors have shown that merosin-negative CMD patients may have encephalic metabolic disturbances. In order to study metabolic changes within the brain, the authors performed a magnetic resonance spectroscopy (MRS) study in a 1-year-old girl with merosin-positive CMD (MP-CMD). MRS of brain demonstrated that NAA/Cr ratio was decreased (1.52), while Cho/Cr ratio was increased (1.78). These findings suggest that metabolic changes in CNS can also be found in patients with MP-CMD. 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 Duchenne and Becker muscular dystrophy: a molecular and immunohistochemical approach. (Arq Neuropsiquiatr. 2007 Mar;65(1):73-6). Authors are Freund AA Scola RH Arndt RC et al., from the Neuromuscular/Neurology Division, Internal Medicine Department, Hospital de Clínicas, Universidade Federal do Paraná, Brazil. Duchenne muscular dystrophy (DMD) and Becker muscular dystrophy (BMD) are caused by mutations in the dystrophin gene. We studied 106 patients with a diagnosis of probable DMD/BMD by analyzing 20 exons of the dystrophin gene in their blood and, in some of the cases, by immunohistochemical assays for dystrophin in muscle biopsies. In 71.7% of the patients, deletions were found in at least one of the exons; 68% of these deletions were in the hot-spot 3′ region. Deletions were found in 81.5% of the DMD cases and in all the BMD cases. 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 Clinical features of hereditary angioedema: analysis of 133 cases (Zhonghua Yi Xue Za Zhi. 2007 Oct 23;87(39):2772-6.). Authors are Ren HL Zhang HY from the Department of Allergy, Peking Union Medical College Hospital, Chinese Academy of Medical Sciences and Peking Union Medical College, Beijing 100730, China. To investigate the clinical characteristics of hereditary angioedema (HAE). The clinical data of 133 cases with HAE from 40 unrelated families were analyzed retrospectively. A rare autosomal dominant disease, and characterized by recurrent episodes of cutaneous swelling, abdominal pain, and laryngeal edema, HAE can be fatal. Abdominal symptoms are often underestimated. HAE-II is very rare in China. Prophylaxis with danazol is effective and can be well tolerated. 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 Anaesthetic management of a woman with autosomal recessive limb-girdle muscular dystrophy for emergency caesarean section ( Int J Obstet Anesth. 2007 Oct;16(4):370-4). Authors are Allen T Maguire S from the Department of Anaesthesia, South Manchester University Hospital, Manchester, UK. We report the successful management of a 28-year-old parturient with an autosomal recessive limb-girdle muscular dystrophy with severe restrictive lung disease, who required non-invasive positive pressure ventilation in the third trimester of her pregnancy. At 37 weeks’ gestation she had combined spinal-epidural anaesthesia for emergency caesarean section and had an uncomplicated intra- and postoperative course. The anaesthetic management is discussed and the literature briefly reviewed. 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 Tracheopathia osteoplastica. (Ann Otolaryngol Chir Cervicofac. 2008 Jul 7). Authors are Liétin B Vellin JF Bivahagumye L et al., from the Service d’ORL et de chirurgie de la face et du cou, CHU de Clermont-Ferrand, BP 69, 63003 Clermont-Ferrand cedex 1, France. Report a case of tracheopathia osteoplastica and describe from a literature analysis the main clinical, radiological, and therapeutic features of this rare disease based on literature review.Tracheopathia osteoplastica is a rare tumor, with unknown etiology and physiopathology. The discovery is most often incidental. Progession is slow and it does not compromise the vital prognosis. The treatment is symptomatic. Few surgical tracheal operations are described in the literature. To access the full abstract of the article, click here.
On 9th of September 2008 Mr. Evgeniy Zhelev, Minister of Health, has approved the National Programme for Rare Diseases – genetic disorders, congenital malformations and nonhereditary diseases (2009-2013). The news is published on web-site of the press-centre of the Ministry (click here). The programme consists of 9 priorities which include prevention and early diagnosis of pregnant women and all newborns. The next step is the official decision by the Council of Ministers. You can follow the chronology of the events leading to this result here(2008), here(2007), here(2007), here(2006), here(2006), here(2004) and here(2004).