PubMed, the Internet portal of biomedical and life sciences literature, indexed an interesting article, entitled “Intravenous enzyme replacement therapy: better in home or hospital?” (Br J Nurs. 2006 Mar 23-Apr 12;15(6):330-3). Authors are Milligan A, Hughes D, Goodwin S et al, from the Lysosomal Storage Disorders Unit, Royal Free Hospital, London, UK. The article evaluates satisfaction with enzyme replacement therapy (ERT) at home and at hospital. A questionnaire was developed and sent to 34 patients with Fabry disease who were receiving ERT with agalsidase alfa (Replagal) and to 49 patients with type I Gaucher disease who were receiving ERT with glucocerebrosidase (Cerezyme). Of the 45 returned questionnaires, 20 were from patients with Fabry disease and 25 from patients with Gaucher disease. Nearly all of the patients preferred home-based therapy. Treatment in the home was reported as more comfortable, less stressful, more effective and had less impact on family life. To access the full abstract of the article, click here.
Publications
PubMed, the Internet portal of biomedical and life sciences literature, indexed an interesting article, entitled “Circadian rhythm disorder in a rare disease: Smith-Magenis syndrome” (Mol Cell Endocrinol. 2006 May 22). Authors are De Leersnyder H, Claustrat B, Munnich A et al, from the Department of Genetics, Hospital Robert Debre, Paris, France. Smith-Magenis syndrome (SMS) is a clinically recognizable contiguous gene syndrome, caused by interstitial deletion of chromosome 17p11.2. The SMS phenotype include distinctive facial features, developmental delay and neurobehavioral abnormalities. The patients present major sleep disturbances ascribed to a phase shift of their circadian rhythm of melatonin with a paradoxical diurnal secretion of the hormone. SMS is the demonstration of biological basis for sleep disorder in a genetic disease. To access the full abstract of the article, click here.
On 13 April 2006, a new orphan medicinal product was registered into the community register of orphan medicinal products under the EU orphan designation number 362. The active ingredient is human heterologous liver cells (for infusion) for treatment of acute liver failure.
PubMed, the Internet portal of biomedical and life sciences literature, indexed an interesting article, entitled “Pachydermoperiostosis (primary hypertrophic osteoarthropathy)” (Medicina (B Aires). 2006;66(2):147-9). Authors are Cavallasca JA, Malah VA, fernandez DE et al, from the Division Reumatologia, Hospital de Clinicas Jose de San Martin, Facultad de Medicina, Universidad de Buenos Aires, Argentina. Pachydermoperiostosis or primary hypertrophic osteoarthropathy is a rare disease characterized by cutaneous and osteoarthicular involvement. The authors describe two patients with finger clubbing, watch crystal nails, bones thickenings, arthritis and different grades of skin affection, without other clinical manifestations. Both did not know of having relatives with the same alterations. Radiological studies of the affected areas showed periostosis. To access the abstract of the article, click here.
PubMed, the Internet portal of biomedical and life sciences literature, indexed an interesting article, entitled “Corneal and conjunctival findings in systemic silver intoxication” (Klin Monatsbl Augenheilkd. 2006 May;223(5):390-392). Authors are Flogel W, Widmeier S, Hotz P et al, from the Augenklinik, UniversitatsSpital Zurich, Switzerland. Chronic silver intoxication is a rare disease and therefore the typical ocular findings may be missed. The authors report a case of a 33-years-old-employee of a battery production plant developed a biopsy proven systemic argyria. On slit lamp examination the conjunctiva showed a dark, blue-grey discoloration in the areas of the tear flow and the small conjunctival arteries. Diffuse silver deposits were noticed on the level of Descemet’s membrane without endothelial damage. Without options for an effective treatment, early diagnosis and prevention of overexposure are most important. The typical ocular findings in systemic argyria are helpful in occupational medicine for establishing the correct diagnosis. To access the abstract of the article, click here.
PubMed, the Internet portal of biomedical and life sciences literature, indexed an interesting article, entitled “Leiomyomatosis peritonealis disseminata in association with Currarino syndrome?” (BMC Cancer. 2006 May 10;6(1):127). Authors are Nappi C, Di Spiezio Sardo A, Mandato VD et al. Leiomyomatosis peritonealis disseminata (LPD) is a rare disease in which multiple smooth muscle or smooth muscle-like nodules develop subperitoneally in any part of the abdominal cavity. The authors report a case of a 27 year-old patient with previously diagnosed multiple congenital malformations. An ultrasound scan and computed tomography showed an irregular, polylobate, complex 20 cm mass originating from the right pelvis that reached the right hypochondrium and the epigastrium. The patient underwent laparotomy and the histological diagnosis was of LPD. The case is distinctive in that a rare acquired disease, LPD, coexists with multiple congenital malformations recalling a particular subgroup of caudal regression syndrome: the Currarino syndrome. 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 “Liver involvement in Langerhans’ cell histiocytosis: case report” (J Gastrointestin Liver Dis. 2006 Mar;15(1):57-9). Authors are Dina I, Copaescu C, Herlea V et al., from the Medical Clinic, St. Ioan Hospital, Bucharest, Romania. Langerhans’cell histiocytosis (Histiocytosis X) is a rare disease of unknown cause characterized by oligoclonal proliferation of Langerhans cells. It occurs mostly in children and young adults and involves one or more body systems such as bone, hypothalamus, posterior pituitary gland, lymph nodes, liver or various soft tissues. The diagnosis is always made by a histological approach. The authors report a case of Langerhans’cell histiocytosis in a young patient with clinical signs of diabetes insipidus. To access the full abstract of the article, click here.
On 12 April 2006, a new orphan medicinal product was registered into the community register of orphan medicinal products under the EU orphan designation number 360. The active ingredient is ciclosporin for treatment of vernal keratoconjunctivitis.
PubMed, the Internet portal of biomedical and life sciences literature, indexed an interesting article, entitled “Hodgkin Lymphoma in a Child With Diamond-Blackfan Anemia” (J Pediatr Hematol Oncol. 2006 Apr;28(4):234-236). Authors are Yaris N, Erduran E and Cobanoglu U from the Departments of Pediatric Oncology, Pediatric Hematology and Pathology, Karadeniz Technical University Faculty of Medicine, Trabzon, Turkey. Diamond-Blackfan anemia (DBA) is a rare disease characterized by aplasia or hypoplasia of erythroid lineage. DBA is associated with an increased risk of malignancy. Most of the reported malignancies are acute myeloid leukemia. Solid tumors including hepatocellular carcinoma and osteosarcoma have also been identified. 29 reported cases with DBA and malignancy can be found. Two of them were diagnosed as Hodgkin lymphoma at 15 and 23 years, respectively. Here the authors report a 7-year-old boy with DBA who developed Hodgkin disease. 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 “Isolated vasculitis of the stomach: A novel or rare disease with a difficult differential diagnosis” (Endoscopy. 2006 Apr 27). Authors are Will U, Gerlach R, Wanzar I et al, from the Dept. of Gastroenterology, Municipal Hospital, Gera, Germany. The authors report the case of a 45-year-old woman with upper abdominal discomfort (no arthropathy), with gastroscopic and endoscopic ultrasound (EUS) findings that mimicked scirrhous gastric carcinoma. Gastroscopy revealed giant gastric folds and a suspicious antral ulcer (with histological findings suggesting chronic active pangastritis). EUS showed a concentric, thickened gastric wall (8 mm) with “pseudolamellation” and more than five enlarged lymph nodes in the paragastric region. This case shows for the first time that a specific gastric panvasculitis can occur, either as a preliminary stage of the condition or as a distinct manifestation of vasculitis associated with the stomach alone. To access the full abstract of the article, click here.