PubMed, the Internet portal of biomedical and life sciences literature, indexed an interesting article, entitled Secondary intracranial hypertension with acute intracranial pressure crisis in superficial siderosis (J Clin Neurosci. 2008 Jul 22.). Authors are Linder S Nowak DA Rodiek SO et al., from the Department of Neurology and Clinical Neurophysiology, Academic Hospital Bogenhausen, Technical University of Munich, Germany. Superficial siderosis of the central nervous system is a very rare disease related to hemosiderin deposits in the brain, brainstem, cerebellum and spinal cord due to chronic subarachnoid hemorrhage. Chronic increased intracranial pressure develops in about one-third of affected cases. Our case emphasizes that patients with superficial siderosis may present with sudden elevation of intracranial pressure due to chronic intracranial hypertension. In this situation permanent CSF drainage provides a useful therapeutic option. 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 Functional C1-Inhibitor diagnostics in hereditary angioedema: Assay evaluation and recommendations. (J Immunol Methods. 2008 Jul 22.). Authors are Wagenaar-Bos IG Drouet C Aygören-Pursun E et al., from the Department Immunopathology, Sanquin Research at CLB, and Landsteiner Laboratory, Academic Medical Center, University of Amsterdam, Amsterdam, The Netherlands. Hereditary angioedema (HAE) is an autosomal dominant disease characterized by recurrent episodes of potentially life-threatening angioedema.In addition to low C4 levels, the most important laboratory parameter for correct diagnosis of HAE or angioedema due to acquired C1-Inh deficiency is reduced C1-Inh function (fC1-Inh).We can recommend the chromogenic assay for the determination of fC1-Inh, while the complex ELISA needs further investigation. 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 Diffuse pulmonary ossification: an unusual interstitial lung disease (Curr Opin Pulm Med 2008 Sep;14(5):488-92). Authors are Peros-Golubicic T Tekavec-Trkanjec J. et al., from the University Hospital for Lung Diseases Jordanovac, Zagreb, Croatia. Diffuse pulmonary ossification is a rare disease characterized by diffuse small bone fragments in the lung tissue. It can be idiopathic or associated with underlying chronic pulmonary or heart diseases. The majority of cases had been diagnosed on autopsy.Diffuse pulmonary ossification is still underrecognized during life. Its relevance concerning the increasing age of population and longer survival of patients with chronic diseases is underrated. A timely diagnosis will enable a better understanding of pathogenesis and natural course of disease thus paving the way to new therapeutic strategies. 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 Treatment of skin swellings with C1-inhibitor concentrate in patients with hereditary angio-oedema (Allergy. 2008 Jun;63(6):751-7.). Authors are Bork K, Staubach P Hardt J. et al., from the Department of Dermatology, Johannes Gutenberg University, Mainz, Germany. Skin swellings are the most frequent symptoms in hereditary angio-oedema (HAE) arising out of C1-inhibitor (C1-INH) deficiency. They may be painful and impact daily activities of patients. Detailed clinical data concerning the treatment of skin swellings by C1-INH concentrate have not been reported yet. The C1-INH concentrate has proven to be highly effective and safe for treating skin swellings in patients with HAE arising out of C1-INH deficiency. 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 Cluster headache (Orphanet Journal of Rare Diseases 2008;3:20). Authors are Elizabeth Leroux and Anne Ducros. Cluster headache (CH) is a primary headache disease characterized by recurrent short-lasting attacks (15 to 180 minutes) of excruciating unilateral periorbital pain accompanied by ipsilateral autonomic signs (lacrimation, nasal congestion, ptosis, miosis, lid edema, redness of the eye). It affects young adults, predominantly males. Acute treatment is based on subcutaneous administration of sumatriptan and high-flow oxygen. Verapamil, lithium, methysergide, prednisone, greater occipital nerve blocks and topiramate may be used for prophylaxis. To access the full text of the article, click here.
National registry of patients with thalassemia major in Bulgaria is a project in the field of rare diseases which BAPES started in August 2008. Its aim is to establish an epidemiological tool to identify and follow up regularly the medical history of each patient. The registry will help doctors, scientists and health authorities to determine the incidence, prevalence, long-term clinical outcome and quality of life of Bulgarian patients with thalassemia major. They will also be able to compare overall management of thalassemia patients in Bulgaria with other countries. Moreover, this experience could be used as a model for starting registries for other rare diseases in the country. Initial data, based on consensus of the national expert group for thalassemia major show that currently there are 211 patients treated at 7 regional centres – Sofia (72), Plovdiv (54), Stara Zagora (37), Varna (23), Burgas (14), Pleven (11). This project is currently awaiting its final approval through the Commission for personal data collection and expected to start effectively in September 2009.
PubMed, the Internet portal of biomedical and life sciences literature, indexed an interesting article, entitled Chediak-Higashi syndrome. (Curr Opin Hematol. 2008 Jan;15(1):22-9.). Authors are Kaplan J De Domenico I Ward DM et al., from the Department of Pathology, University of Utah School of Medicine, Salt Lake City, Utah, USA. Chediak-Higashi syndrome, a rare autosomal recessive disorder, was described over 50 years ago. Patients show hypopigmentation, recurrent infections, mild coagulation defects and varying neurologic problems. Treatment is bone marrow transplant, which is effective in treating the hematologic and immune defects, however the neurologic problems persist.Clinical reports of Chediak-Higashi syndrome have identified mutations throughout the CHS1/LYST gene.The nature of the mutation can be a predictor of the severity of the disease.Understanding the basic mechanisms. will provide essential information regarding how loss of CHS1/LYST affects hematologic, immunologic and neurologic processes. To access the full abstract of the article, click here.
Nonsurgical treatment of an incompletely excised primary adenocarcinoma of nonpigmented ciliary epithelium
PubMed, the Internet portal of biomedical and life sciences literature, indexed an interesting article, entitled Nonsurgical treatment of an incompletely excised primary adenocarcinoma of nonpigmented ciliary epithelium (Tumori. 2007 Sep-Oct;93(5):514-7.). Authors are Lee SW Park SH Kim IH et al. Primary adenocarcinoma of the nonpigmented ciliary epithelium (NPCE) is a very rare disease and the majority of acquired cases were treated by enucleation. We report the case of a 19-year-old man who had an adenocarcinoma arising from the NPCE. The tumor was found incidentally due to changed pupil shape. Because of the positive resection margin and to save the eye, radiotherapy rather than enucleation was performed, followed by chemotherapy. Two years after the diagnosis, the patient continues to be followed up without evidence of relapse or cataract change. 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 Hepaticolithiasis: Rare benign disease of the intrahepatic bile ducts ( Chirurg. 2007 Nov 28; ). Authors are Knorr C Dimmler A Hohenberger W et al., from the Chirurgische Universitätsklinik mit Poliklinik , Friedrich-Alexander-Universität Erlangen-Nürnberg, Erlangen, Deutschland. Hepaticolithiasis is a rare disease of the intrahepatic bile ducts endemic to east Asia which also is known as oriental cholangiohepatitis. Beside strictures and metabolic disturbance, the main cause of intrahepatic stones is acquired or congenital malformation of the intrahepatic biliary ducts. In the following we show a case of hepaticolithiasis and concurrent pancreatic metaplasia. 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 Adrenocortical carcinoma: Diagnostic work-up and treatment (Urologe A. 2007 Nov 22). Authors are Johanssen S, Brix D et al., from the Schwerpunkt Endokrinologie und Diabetologie, Medizinische Klinik und Poliklinik I, Universitätsklinik, Würzburg, Deutschland. Adrenocortical carcinoma (ACC) is a rare disease with poor prognosis. Preoperatively, a thorough hormonal work-up is mandatory, as the hormonal status may influence the perioperative management and may also provide marker hormones for monitoring of tumour recurrence. CT and MRI are equally sensitive and specific imaging tools for adrenal tumours. Open adrenalectomy via a flank or thoracoabdominal approach is the standard surgical technique. Intraoperative tumour spillage should be carefully avoided. Even after R0 resection, recurrence of the disease is frequent and regular follow-up for a minimum of 5 years is required. In advanced ACC, the treatment of choice is mitotane with or without cytotoxic chemotherapy To access the full abstract of the article, click here.