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  Rare Diseases and Orpha...  
Новото списание има за мисия да създаде форум на високо ниво по важни аспекти на общественото здраве, здравната политика и клиничните изследвания, който ще подобри здравните услуги за хората с редки болести, както и ще спомогне за споделянето на ценен опит в европейски и световен мащаб.
We are glad to announce the Rare Diseases and Orphan Drugs Journal (RARE Journal), which is a new international open access, online, peer-reviewed journal published three times per year, with no publishing fees. RARE Journal is produced within the framework of RARE-Bestpractices project, which is funded by the EU Seventh Framework Programme. The mission of RARE Journal is to provide an advanced forum on important aspects of public health, health policy and clinical research in ways that will improve health care and outcomes for persons suffering from rare diseases, as well as globally increase rare diseases experience sharing. RARE Journal serves the international rare diseases community by publishing high-quality articles from epidemiology, public health, health economics, social sciences, ethics and law, with a special accent on rare diseases best practices guidelines, rare diseases research recommendations, and rare diseases epidemiological reports. RARE Journal first issue is due by December 2013 and the Journal has already announced a call for submissions. For further information, please visit RARE Journal official website.
  Оценяване на алгоритмит...  
Списанието Clinical Epidemiology публикува проучване относно оценка на валидността на алгоритми за откриване на пациенти с хипопитуитаризъм. Рутинно събрана информация относно здравето може да бъде ценен източник за провеждане на проучване.
The journal Clinical Epidemiology has published a study about evaluate the validity of algorithms detecting hypopituitary patients. Routinely collected health data may be valuable sources for conducting research. This study aimed to evaluate the validity of algorithms detecting hypopituitary patients in the Danish National Patient Registry (DNPR) using medical records as reference standard. Patients with International Classification of Diseases (10th edition [ICD-10]) diagnoses of hypopituitarism, or other diagnoses of pituitary disorders assumed to be associated with an increased risk of hypopituitarism, recorded in the DNPR during 2000-2012 were identified. Medical records were reviewed to confirm or disprove hypopituitarism. Hypopituitarism was confirmed in 911 patients. In a candidate population of 1,661, this yielded an overall positive predictive value (PPV) of 54.8% (95% confidence interval [CI]: 52.4-57.3). The DNPR is a valuable data source to identify hypopituitary patients using a search criteria of at least five records of E23.0x and/or at least one record of E89.3x. The full-text study you can find here.
  Оценяване на алгоритмит...  
Списанието Clinical Epidemiology публикува проучване относно оценка на валидността на алгоритми за откриване на пациенти с хипопитуитаризъм. Рутинно събрана информация относно здравето може да бъде ценен източник за провеждане на проучване.
The journal Clinical Epidemiology has published a study about evaluate the validity of algorithms detecting hypopituitary patients. Routinely collected health data may be valuable sources for conducting research. This study aimed to evaluate the validity of algorithms detecting hypopituitary patients in the Danish National Patient Registry (DNPR) using medical records as reference standard. Patients with International Classification of Diseases (10th edition [ICD-10]) diagnoses of hypopituitarism, or other diagnoses of pituitary disorders assumed to be associated with an increased risk of hypopituitarism, recorded in the DNPR during 2000-2012 were identified. Medical records were reviewed to confirm or disprove hypopituitarism. Hypopituitarism was confirmed in 911 patients. In a candidate population of 1,661, this yielded an overall positive predictive value (PPV) of 54.8% (95% confidence interval [CI]: 52.4-57.3). The DNPR is a valuable data source to identify hypopituitary patients using a search criteria of at least five records of E23.0x and/or at least one record of E89.3x. The full-text study you can find here.
  Френски регистър за бол...  
Автор е Jaussaud R, от Department of Internal Medicine, Reims, France. Регистрите на пациенти с редки болести са важни и представляват ценен източник на информация за епидемиология, история на заболяването, поддаване на лечение и медицински дейности.
PubMed, the Internet portal of biomedical and life sciences literature, indexed an interesting article, entitled “The French ‘observatoire’ on Gaucher’s disease.” (Eur J Intern Med. 2006 Nov;17 Suppl:S6-8). Author is Jaussaud R, from the Department of Internal Medicine, Reims, France. Registries of patients with rare diseases are important and represent valuable sources of information on epidemiology, natural history of the disease, treatment response and medical practices. The French ‘observatoire’ on Gaucher’s disease has both an epidemiological and educational objective: It will describe a large population of adult patients with special attention to complications and quality of life assessment. All adult patients with a confirmed diagnosis of Gaucher’s disease will be enrolled at the time of their regular visit to the investigational centre. Collection will be as comprehensive as possible, covering the classical parameters of Gaucher’s disease with patients’ complaints, clinical abnormalities, imaging and biological assessments and concomitant medications. To access the full abstract of the article, click here.
  Съвременни аспекти на н...  
По този начин монографията на доц. Красимир Коев се превръща в изключително ценен източник на информация не само за специалистите по офталмология, но също и за лекарите от други специалности – педиатри, невролози, лицево – челюстни хирурзи, неврохирурзи, дентални лекари, генетици, общопрактикуващи лекари и т.н. Благодарение на тази монография медицинските специалисти в България ще могат да подобрят своите знания и възможност за по-ранно диагностициране както на редките очни синдроми и аномалии, така и на други редки заболявания с очна симптоматика.
The book “Contemporary Aspects of Some Rare Syndromes, Diseases and Anomalies Affecting the Eyes” by Assoc. Prof. Krasimir Tsonev Koev, PhD, is the first of its kind in Bulgaria. The author has succeeded to select and assemble the available and up-to-date information for 50 rare syndromes, diseases and anomalies affecting the eyes. The description of each disease in the book is well structured and includes definition, etiology, epidemiological data, ocular manifestations, diagnostic criteria, treatment, and references. Thus, the book of Prof. Krassimir Koev becomes an extremely valuable source of information not only for the specialists in ophthalmology, but also for doctors from other specialties – pediatricians, neurologists, maxillofacial surgeons, neurosurgeons, dentists, geneticists, general practitioners etc. The medical professionals in Bulgaria will be able to improve their knowledge and the possibility of early diagnosis of both rare eye syndromes and abnormalities as well as other rare diseases with eye symptoms.