PubMed, the Internet portal of biomedical and life sciences literature, indexed an interesting article, entitled Alstrom syndrome (OMIM 203800): a case report and literature review (Orphanet Journal of Rare Diseases 2007, 2:49doi:10.1186/1750-1172-2-49). Authors are Tisha Joy, Henian Cao, Graeme Black et al. Alstrom syndrome (AS) is a rare autosomal recessive disease characterized by multiorgan dysfunction. The key features are childhood obesity, blindness due to congenital retinal dystrophy, and sensorineural hearing loss. Associated endocrinologic features include hyperinsulinemia, early-onset type 2 diabetes, and hypertriglyceridemia. Thus, AS shares several features with the common metabolic syndrome, namely obesity, hyperinsulinemia, and hypertriglyceridemia. Mutations in the ALMS1 gene have been found to be causative for AS with a total of 79 disease-causing mutatations having been described. To access the full аrticle, click here
PubMed, the Internet portal of biomedical and life sciences literature, indexed an interesting article, entitled Pancreatic angiomatosis: report of a case (Surg Today. 2008;38(1):72-5. Epub 2007 Dec 24). Authors are So T Matsuda H Sonoda T et al, from the Department of Surgery, Saiseikai Fukuoka General Hospital, Fukuoka, Japan. Recent advances in imaging techniques such as CT and (MRI) have enabled us to detect pancreatic cysts. We report a rare case of pancreatic angiomatosis in a 21-year-old woman who presented with vague abdominal pain, a feeling of fullness, and nausea. Abdominal US, CT, and MRI showed a huge mass in the right upper abdomen. We performed pylorus-preserving pancreato-duodenectomy, and the histopathological examination of the excised specimen revealed that the tumor was angiomatosis, probably originating from parapancreatic fibro-adipose tissue. A complete surgical excision should be performed as curative treatment for pancreatic angiomatosis, which is an extremely rare disease when not associated with Von Hippel-Lindau syndrome. To access the full abstract of the article, click here
On 29/11/2007, a new orphan medicinal product was registered into the community register of orphan medicinal products under the EU orphan designation number 506. The active ingredient is Heterologous human adult liver derived stem cells for treatment of Crigler-Najjar syndrome
PubMed, the Internet portal of biomedical and life sciences literature, indexed an interesting article, entitled Constant blood flow reduction in premotor frontal lobe regions in ALS with dementia – a SPECT study with 3D-SSP (Acta Neurol Scand. 2007 Nov;116(5):340-4.). Authors are Ishikawa T , Morita M Nakano I et al, from the Division of Neurology, Department of Internal Medicine, Jichi Medical University, Tochigi, Japan. We investigated the regional cerebral blood flow in amyotrophic lateral sclerosis with dementia (ALS-D) patients, using single photon emission computed tomography (SPECT). The (123)I-IMP SPECT data for 5 ALS-D and 16 ALS patients were analyzed using three-dimensional stereotactic surface projection (3D-SSP). RESULTS – 3D-SSP demonstrated marked prefrontal hypoperfusion in all the five ALS-D cases and significant bilateral prefrontal hypoperfusion in group comparisons. This study revealed prefrontal hypoperfusion in ALS-D cases to be an obvious abnormality with scientific objectivity. To access the full abstract of the article, click here
On 30/11/2007, a new orphan medicinal product was registered into the community register of orphan medicinal products under the EU orphan designation number 508. The active ingredient is Chimeric-anti-interleukin-6 monoclonal antibody for treatment of Castleman’s disease
PubMed, the Internet portal of biomedical and life sciences literature, indexed an interesting article, entitled Pathology of thrombotic thrombocytopenic purpura in the placenta, with emphasis on the snowman sign (Pediatr Dev Pathol. 2007 Nov-Dec;10(6):455-62.). Authors are Jamshed S Kouides P Sham R et al, from the Department of Medicine, University of Rochester School of Medicine, Rochester, NY, USA. Thrombotic thrombocytopenic purpura (TTP) commonly affects women of childbearing age. Although cases of TTP in pregnancy have been reported, the pathology of TTP in the placenta has not been described. In other organs, TTP has a distinctive pathology of arteriolar aneurysms with segmental intramural hyaline deposits. We report 2 cases of TTP in pregnancy, both leading to fetal loss in the 2nd trimester. We noticed a distinctive pathology of TTP in the spiral arteries on the maternal surface of the placenta, particularly the “snowman sign,”In one of our cases, where the clinical diagnosis of TTP was difficult, the distinctive placental findings helped reinforce the clinical decision to perform potentially life-saving plasmapheresis. To access the full abstract of the article, click here
On 29/11/2007, a new orphan medicinal product was registered into the community register of orphan medicinal products under the EU orphan designation number 507. The active ingredient is Doxorubicin hydrochloride for treatment of glioma
PubMed, the Internet portal of biomedical and life sciences literature, indexed an interesting article, entitled Physiotherapeutic conduct in amyotrophic lateral sclerosis (Sao Paulo Med J. 2006 Nov 7;124(6):350-4). Authors are Pozza AM Delamura MK Ramirez C et al, from the Faculdade de Medicina de São José do Rio Preto, São José do Rio Preto, São Paulo, Brazil. Amyotrophic Lateral Sclerosis (ALS) is a fatal progressive neurodegenerative disease with multifactorial etiology for which, so far, there is no effective medicinal treatment. However, by means of kinesiotherapy intervention and patient guidance and care, physiotherapy can delay physical functional losses, muscle fatigue and immobility of the joint-muscle system, thereby improving the quality of life. This survey had the aim of reviewing the physiotherapeutic conduct currently used in ALS cases. Monthly monitoring is recommended, with changes in goals and conduct at each stage of the disease, activities to be pursued around the home, and emphasis on stretching, muscle strengthening, posture adequacy and respiratory kinesiotherapy. To access the full abstract of the article, click here
On 10/12/2007, a new orphan medicinal product was registered into the community register of orphan medicinal products under the EU orphan designation number 503. The active ingredient is Recombinant human hepatitis C monoclonal antibody against C4 region of E1 for prevention of recurrent hepatitis C virus induced liver disease in liver transplant recipients.
PubMed, the Internet portal of biomedical and life sciences literature, indexed an interesting article, entitled Priorities in the discovery of the implications of water channels in epilepsy and duchenne muscular dystrophy ( Cell Mol Biol (Noisy-le-grand). 2006 Oct 30;52(7):46-50.). Author is Benga I from the Department of Pediatric Neurology, Iuliu Hatieganu University of Medicine and Pharmacy Cluj-Napoca, Romania. In 1977 Benga and Morariu reported a decreased water permeability of red blood cells in children with idiopathic epilepsy (cases selected by Ileana Benga). This investigation was performed as part of a program of research of hydroelectrolytic alterations in child epilepsy. On the other hand the group of Gheorghe Benga has reported a decreased water permeability of RBC in patients with Duchenne muscular dystrophy. These findings were interpreted as an expression of generalized membrane defects affecting water permeability in epilepsy and Duchenne muscular dystrophy. In recent years this idea was confirmed by reports indicating aquaporin abnormalities in the brain of epileptic patients and in the muscle of Duchenne muscular dystrophy patients. To access the full abstract of the article, click here.