PubMed, the Internet portal of biomedical and life sciences literature, indexed an interesting article, entitled Botulinum toxin B ultrasound-guided injections for sialorrhea in amyotrophic lateral sclerosis and Parkinson’s disease. (Parkinsonism Relat Disord. 2007 Jul;13(5):299-303. ). Authors are Contarino MF Pompili M Tittoto P et al., from the Istituto di Neurologia, Università Cattolica del Sacro Cuore, Rome, Italy. Sialorrhea is frequent and invalidating in patients with amyotrophic lateral sclerosis (ALS) or Parkinson’s disease (PD). Botulinum toxin (BTX) emerged as an alternative to traditional treatments. We evaluated efficacy and tolerability of ultrasound-guided BTX-B injections in parotids and submandibular glands in 18 patients with ALS or PD.BTX-B seems efficacious in reducing sialorrhea in ALS and PD but the risk-benefit ratio might differ between these two conditions. This might have implications for clinical practice. 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 treatment of refractory thrombotic thrombocytopenic purpura with cyclosporine and corticosteroids in a patient with systemic lupus erythematosus and antibodies to ADAMTS13. (Intern Med. 2007;46(13):1033-7). Authors are Enami T Suzuki T Ito S et al., from the Clinical Immunology, Advanced Biomedical Applications, Graduate School of Comprehensive Human Sciences, University of Tsukuba. A 46-year-old woman with systemic lupus erythematosus was hospitalized for purpura, hematochezia and hematuria. One week after admission, she developed grand mal seizures and coma and was diagnosed with thrombotic thrombocytopenic purpura (TTP) when fragmented red cells were found on the peripheral blood smear. She was refractory to methylprednisolone pulse therapy and plasma exchange, but administration of cyclosporine induced remission without adverse effects. We propose that cyclosporine may be an effective treatment for cases of refractory TTP. To access the full abstract of the article, click here.
The 1st Pan-European Workshop on Thalassaemia will take place on 26 of November 2007 in Lisbon, Portugal within the context of the 4th European Conference on Rare Diseases (ECRD 2007). The workshop is organised by TIF – Thalassemia International Federation .
PubMed, the Internet portal of biomedical and life sciences literature, indexed an interesting article, entitled Mazabraud’s Syndrome Coexisting with a Uterine Tumor Resembling an Ovarian Sex Cord Tumor (UTROSCT): a Case Report. ( Korean J Radiol. 2007 Sep-Oct;8(5):438-42.). Authors are Calisir C Inan U Yavas US et al., from the Department of Radiology, Eskisehir Osmangazi University. The association of intramuscular myxoma and fibrous dysplasia is a rare disease known as Mazabraud’s syndrome. We present a case of Mazabraud’s syndrome coexisting with a uterine tumor and resembling an ovarian sex cord tumor (UTROSCT). This uterine tumor showed a high mitotic index and cytological atypia. To the best of our knowledge, the coexistence of the two different entities has not been reported in the literature. 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 Childhood systemic sclerosis (Curr Opin Rheumatol. 2007 Nov;19(6):592-7). Authors are Zulian F and Martini G from the Pediatric Rheumatology Unit, Department of Pediatrics, University of Padova, Italy. Juvenile systemic sclerosis has a variety of clinical manifestations, sometimes different from the adult form. Early recognition, proper classification and treatment may improve the long-term outcome. A multicenter study coordinated by the Paediatric Rheumatology European Society has yielded important information on the epidemiology and clinical manifestations of systemic sclerosis in childhood. An ad-hoc Committee on Classification Criteria for Juvenile Systemic Sclerosis developed the new classification criteria to help improve patient care by enabling earlier diagnosis. The outcome of children with systemic sclerosis is better than in adults but, in those cases with a fatal course, disease progression is rapid and an early involvement of internal organs. 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 Surgical outcome of thoracic myelopathy secondary to ossification of ligamentum flavum. ( Joint Bone Spine. 2007 Aug 3). Authors are Park BC Min WK Oh CV et al., from the Department of Orthopaedic Surgery, School of Medicine, Kyungpook National University, Republic of Korea. Thoracic myelopathy secondary to OLF is a rare disease described almost exclusively in Japanese patientsThis study is to describe the clinical and radiologic aspects, as well as surgical outcomes in a group of South Korean patients.Diagnosis in each case was established using CT and MRI. Walking difficulties were the most common presenting complaint. Spastic paraparesis associated with sphincter dysfunction was the most common finding on initial examination. Decompressive laminectomy with excision of the OLF resulted in significant improvement in motor weakness and gait. . When neurologic symptoms develop, decompressive laminectomy should be done immediately. 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 Hypophosphatasia (Orphanet Journal of Rare Diseases 2007, 2:40). Author is Etienne Mornet. Hypophosphatasia is a rare inherited disorder characterized by defective bone and teeth mineralization and deficiency of serum and bone alkaline phosphatase activity.The symptoms are highly variable – from stillbirth without mineralized bone to early loss of teeth without bone symptoms. There are six clinical forms – perinatal (lethal), perinatal benign, infantile, childhood, adult and odontohypophosphatasia. The disease is due to mutations in the liver/bone/kidney alkaline phosphatase gene (ALPL; OMIM# 171760) encoding the tissue-nonspecific alkaline phosphatase (TNAP). There is no curative treatment for hypophosphatasia. Enzyme replacement therapy will be certainly the challenge of the next years. 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 440. The active ingredient is recombinant adeno-associated viral vector containing human alpha-1 antitrypsin gene for treatment of congenital alpha-1 antitrypsin deficiency.
PubMed, the Internet portal of biomedical and life sciences literature, indexed an interesting article, entitled “Idiopathic granulomatous mastitis.” (Am Surg. 2007 Aug;73(8):798-802). Authors are Wilson JP, Massoll N, Marshall J, et al., from the Department of Surgery, Division of Surgical Oncology, University of Florida, Gainesville, Florida, USA. Idiopathic granulomatous mastitis, also known as idiopathic granulomatous lobular mastitis, is a benign breast lesion that represents both a diagnostic and therapeutic dilemma. The authors report two cases of granulomatous mastitis. To better understand this rare disease, they analyzed treatment outcomes in reported cases of granulomatous mastitis. Based on this analysis, the authors propose a clinically useful algorithm for both workup and management of these challenging cases. To access the full abstract of the article, click here.
We are pleased to inform you that the translated educational articles in Bulgarian language on DMD` issues are available online. Our grateful acknowledgement to all volunteer translators: Bilyana, Bistra Jeleva, Denitca Petrova, Elena Stankova, Gabriela Harizanova, Vesela Dimitrova from the Internet forum of bg-mamma.com, for their implicit support, to Dr. Pavel Balabanov – out consultant in neurology, and mainly to Mrs. Pat Furlong – the President of the Parent Project Muscular Dystrophy for her agreement for translation of articles. To access the articles in Bulgarian language click here. To access the original source of information, visit www.parentproject.com.