PubMed, the Internet portal of biomedical and life sciences literature, indexed an interesting article, entitled “Primary angiitis of the central nervous system.” (Rev Neurol. 2007 Feb 16-28;44(4):209-11). Authors are Jordao MJ, Almeida F, Moreira da Costa et al., from the Hospital Sao Marcos, Braga, Portugal. Primary angiitis of the central nervous system (CNS) is a rare disease. Clinical signs and symptoms include headache and cognitive disorders associated to multifocal neurological deficits. A definitive diagnosis can only be achieved by means of a cerebromeningeal biopsy. The authors describe the case of a 15-year-old male who first reported lower back pain and progressive paresis of the right lower limb, later followed by laterocollis on the right side. Primary angiitis of the CNS is an infrequent disease and its pathogenesis remains unknown. The definitive diagnosis of these patients is histological. It courses spontaneously and generally has a fatal outcome. Treatment, which consists in an association of cyclophosphamide and prednisone, must be started as early as possible. 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 “Langerhans cell histiocytosis of the optic chiasm.” (Clin Experiment Ophthalmol. 2007 Jan;35(1):66-8). Authors are Gangwani V, Walker M, El-Defrawy H, et al., from the Royal Eye Infirmary, Dorset County Hospital, Dorchester, UK. Langerhans cell histiocytosis (LCH) is a rare disease with clonal proliferation of dendritic histiocytes forming a pseudotumoral growth. LCH occurs most frequently in infancy or early childhood. It can present either as a localized self-limiting form or as a diffuse form with multisystem involvement. Herein an unusual case of LCH involving the optic chiasm is presented. To the authors’ knowledge, this is the first reported case of LCH presenting with visual disturbance. 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 “Prenatal detection of a congenital pancreatic cyst by ultrasound.” (J Korean Med Sci. 2007 Feb;22(1):156-8). Authors are Choi SJ, Kang MC, Kim YH, et al., from the Department of Obstetrics and Gynecology, College of Medicine, Chosun University, Gwangju, Korea. The authors present a case of a fetal pancreatic cyst, a rare disease in fetal life, detected prenatally at 30 weeks’ gestation by ultrasound. Routine ultrasound examination at 30 weeks’ gestation by primary obstetrician showed a cyst on the fetal abdomen. Initially, the suspected diagnosis was a mesenteric cyst. Subsequent ultrasound examination at weeks 32, 36 showed a fetal retroperitoneal cyst. The fetus underwent exploratory laparotomy. Histopathologic and immunohistochemical diagnosis revealed the cyst to be a pancreatic cyst. Surgical outcome was excellent. 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 “Giant mucinous biliary cystadenoma.” (Hepatobiliary Pancreat Dis Int. 2007 Feb;6(1):101-3). Authors are Zhou JP, Dong M, Zhang Y, et al., from the Department of General Surgery, First Affiliated Hospital, China Medical University Shenyang, China. Biliary cystadenoma is a very rare cystic neoplasm of the liver. Its clinical features, diagnosis, pathologic characteristics, and optimal surgical management have not been defined clearly. In this article the describe the details of this rare disease. A 40-year-old woman with a mass of the liver was verified by ultrasonography and LT. The patient received successfully a left hepatectomy. After the left hepatectomy, the patient was fully recovered. Her biliary cystadenoma was characterized by specific histological findings. Ultrasonography and CT are the major methods for the diagnosis of mucinous biliary cystadenoma liver. Operation is the best way of treatment. 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 “Acute retinal necrosis.” (Chem Immunol Allergy. 2007;92:244-53). Authors are Kezuka T and Atherton SS, from the Department of Ophthalmology, Tokyo Medical University Hospital, Japan. Acute retinal necrosis (ARN) is a rare disease that is usually caused by one of the three neurotropic human herpesviruses – herpes simplex virus type 1(HSV-1), HSV-2 and varicella-zoster virus (VZV). Although much is known about the clinical course of the disease and its treatment and about the viruses that cause it, comparatively little is known about its pathogenesis. This article will review the history of ARN, the typical clinical findings, and methods of diagnosis. The combined information from human and mouse studies will be discussed to suggest mechanisms that contribute to the pathogenesis of ARN in human patients. Finally, puzzles and questions about the disease will be considered. 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 “Distinct clinical presentations of a single medical entity: eosinophilic enteritis.” (Gastroenterol Hepatol. 2007 Jan;30(1):19-21). Authors are Mendez Sanchez IM, Rivera Irigion R, Ubina Aznar E, et al., from the Servicio de Aparato Digestivo. Hospital Costa del Sol. Marbella. Malaga, Espana. Eosinophilic enteritis is a rare disease characterized by eosinophilic infiltration of different wall layers of the gastrointestinal tract, from the esophagus to the rectum, by eosinophilic cells. The most frequently affected structures are the stomach and small intestine. The pathogenesis of eosinophilic enteritis is not well understood and is often related to a personal or familial history of atopy. Clinical symptoms depend on the affected layers. The authors present three cases of eosinophilic gastroenteritis with distinct clinical presentations. 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 “Thymic lymphoepitheliomalike carcinoma in children: clinicopathologic features and molecular analysis.” (J Pediatr Hematol Oncol. 2006 Dec;28(12):785-90). Authors are Hsueh C, Kuo TT, Tsang NM, et al., from the Department of Pathology, Chang Gung Memorial Hospital and Chang Gung University, Chang Gung Children’s Hospital, Tao-Yuan, Taiwan. Thymic lymphoepitheliomalike carcinoma (LELC) in children is extremely rare. The authors report 2 such cases with molecular analysis of Epstein-Barr virus (EBV) and its encoded latent membrane protein-1 as well as a literature review. Both patients were male, presented with a huge anterior mediastinal mass. There were altogether 9 cases of thymic LELC in children. Their common clinical features include a male predominance, large tumor size, advanced clinical stage, and poor clinical outcome. All cases were associated with EBV and nearly half developed concurrent hypertrophic osteoarthropathy (HOA). 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 “Self-help for a rare, chronic disease.” (Ophthalmologe. 2007 Jan 18). Authors are Alsmeier G and Rath D, Verein fur von der Von-Hippel-Lindau-Erkrankung betroffene Familien e.V. , Rembrandt-Strasse 2, Meppen, Deutschland. The existence of support groups is of great interest, especially for individuals affected by a rare, chronic disease. The few affected people means a shortage of specialized physicians. As a result, affected individuals suffer from a great lack of information about their disease. Self-help organizations fill this gap and complement the work of physicians by informing patients, leading them through the health system and offering a partner to talk to. The support group “Society for von Hippel-Lindau (VHL) disease effected families” puts its main emphasis on general information about the disease. In addition, the association supports the exchange of experience and helps to explain psychologically or socially determined problems associated with the VHL-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 “Petrous Bone Langerhans Cell Histiocytosis Treated with Radiosurgery.” (Stereotact Funct Neurosurg. 2007 Jan 12;85(2-3):129-131). Authors are Del Rio L, Lassaletta L, Martinez R, et al., from the Department of Otolaryngology, ‘La Paz’ University Hospital, Madrid, Spain. Langerhans cell histiocytosis, (LCH) is a rare disease that may show as a solitary or multifocal lesion of bone, soft tissue or viscera. Involvement of the temporal bone has been described in 15-61% of patients with LCH, usually in association with multisystemic involvement. The authors report a case of a 30-year-old man presenting with vertigo and fluctuating hearing loss caused by monosystemic LCH of the left petrous bone. The patient was treated with radiosurgery. Two years after treatment, no evidence of recurrent disease was found in the CT scan or MRI. To the authors`s knowledge, this is the first reported case of LCH of the petrous bone successfully treated with radiosurgery. 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 “Recent advances in respiratory care for neuromuscular disease.” (Chest. 2006 Dec;130(6):1879-86). Author is Simonds AK, from the Royal Brompton Hospital, Sydney Street, London, UK. The impact of ventilatory support on the natural history of neuromuscular disease (NMD) has become clearer over the last 2 decades as techniques have been more widely applied. Noninvasive ventilation (NIV) allows some patients with nonprogressive pathology to live to nearly normal life expectancy, extends survival by many years in patients with other conditions (eg. DMD), and in those patients with rapidly deteriorating disease (eg. ALS). A growing number of children with NMD are surviving to adulthood with the aid of ventilatory support. In patients with many different neuromuscular conditions the most effective time to introduce NIV is when symptomatic sleep-disordered breathing develops. To access the full abstract of the article, click here.