Congenital sideroblastic anaemia (CSA) is a rare disease caused by germline mutations of genes involved in haem and iron-sulphur cluster formation, and mitochondrial protein biosynthesis. We performed a retrospective multicentre European study of a cohort of childhood-onset CSA patients to explore genotype/phenotype correlations. We studied 23 females and 20 males with symptoms of CSA. Among the patients, the most frequently mutated genes were ALAS2 (n = 10; 23·3%) and SLC25A38 (n = 8; 18·6%), causing isolated forms of microcytic anaemia of varying severity. Five patients with SLC19A2 mutations suffered from thiamine-responsive megaloblastic anaemia and three exhibited the ‘anaemia, deafness and diabetes’ triad. Three patients with TRNT1 mutations exhibited severe early onset microcytic anaemia associated with thrombocytosis, and two exhibited B-cell immunodeficiency, inflammatory syndrome and psychomotor delay. The prognoses of patients with TRNT1 and SLC2A38 mutations were generally dismal because of comorbidities or severe iron overload. No molecular diagnosis could be established in 14/43 cases. This study emphasizes the frequency of ALAS2 and SLC25A38 mutations and provides the largest comprehensive analysis to date of genotype/phenotype correlations in CSA. Further studies of CSA patients with data recorded in an international registry would be helpful to improve patient management and establish standardized guidelines. For more information click here.
Additional documentation is published in the form of “FAQs” to help the HCP candidates to prepare their application for the ERN membership call. The FAQs contain frequently asked questions related to the ERNs in general, and to the application process in particular. The FAQs will be updated on a regular basis.The Call for the healthcare providers to join existing ERNs will be published in the coming weeks, together with a dedicated IT tool to submit applications. For more information click here.
The European Huntington’s Disease Network (EHDN) commissioned an international task force to provide global evidence-based recommendations for everyday clinical practice for treatment of Huntington’s disease (HD). The objectives of such guidelines are to standardize pharmacological, surgical and non-pharmacological treatment regimen and improve care and quality of life of patients. A formalized consensus method, adapted from the French Health Authority recommendations was used. First, national committees (French and English Experts) reviewed all studies published between 1965 and 2015 included dealing with HD symptoms classified in motor, cognitive, psychiatric, and somatic categories. Quality grades were attributed to these studies based on levels of scientific evidence. Provisional recommendations were formulated based on the strength and the accumulation of scientific evidence available. When evidence was not available, recommendations were framed based on professional agreement. A European Steering committee supervised the writing of the final recommendations through a consensus process involving two rounds of online questionnaire completion with international multidisciplinary HD health professionals. Patients’ associations were invited to review the guidelines including the HD symptoms. Two hundred and nineteen statements were retained in the final guidelines. We suggest to use this adapted method associating evidence base-medicine and expert consensus to other rare diseases. For more information click here.
Friedreich ataxia (FRDA), a rare disease caused by the deficiency of the mitochondrial matrix protein frataxin, affects roughly 1 in 50,000 individuals worldwide. Current and emerging therapies focus on reversing the deleterious effects of such deficiency including mitochondrial augmentation and increasing frataxin levels, providing the possibility of treatment options for this physiologically complex, multisystem disorder. Areas covered: In this review article, the authors discuss the current and prior in vivo and in vitro research studies related to the treatment of FRDA, with a particular interest in future implications of each therapy. Expert opinion: Since the discovery of FXNin 1996, multiple clinical trials have occurred or are currently occurring; at a rapid pace for a rare disease. These trials have been directed at the augmentation of mitochondrial function and/or alleviation of symptoms and are not regarded as potential cures in FRDA. Either a combination of therapies or a drug that replaces or increases the pathologically low levels of frataxin better represent potential cures in FRDA. For more information click here.
Practice Patterns for Early Screening and Evaluation for Autism Spectrum Disorder Diagnosis in Bulgaria
The aims of this study were to describe the practice patterns for early screening and evaluation for ASD diagnosis in Bulgaria, as well as to identify potential barriers and facilitators in this process. We surveyed a sample of pediatricians and pediatric psychiatrists to analyze the use of standardized instruments, application of biomarkers, parental collaboration and future policy prospects. We found a significant support for the idea of a national program for ASD in Bulgaria. These insights provide an evidence-based analysis that could help improve services, guide research and inform policies in regard to ASD. Further work is necessary to better understand other stakeholders’ opinions and perspectives, especially those of patients and their families. For more information click here.
The following is a case recurrence of epulis gigantocellularis. Patient complaints are for bleeding, soreness, and inconvenience in eating and speaking. An exophyte formation is founded that is excised without engaging tooth extraction. The recurrence that follows has been over come after the excision and extractions of the teeth in the neighborhood ensuring a calm operative field. For more information click here.
Dynamic development and rapid deployment of health technologies, as well as the increasing speed of information flow are the main characteristic that shape the environment of HTA capacity building and institutionalization. The international survey on HTA was designed to gain information about the present status of HTA activities; to examine its institutional contexts and the kind of application of its principles, logic, methods and tools; and to design a theoretical framework for capacity building and institutionalization of HTA practices. The HTA organization is not an autonomous object; on the contrary, its establishment, existence, activity and final results are totally dependent on the external environment of the organization. The model we are presenting is not an algorithm for building an HTA organization but is a dynamic framework that integrates the three interrelated – macro, meso and micro levels. By applying iterative and recursive processes, it is possible to achieve balance, synergy and harmonization of activities and fitting the requirement of all three levels. For more informaton click here.
Renal Tubular Acidosis (RTA) is a disease associated with the accumulation of uric acid in the body due to the kidney’s inability to filter urine. It can be two forms – primary and secondary (acquired). The most common form of primary RTA among children is Distal Renal Tubular Acidosis. It causes characteristic oral changes – the teeth have imperfect amelogenesis. For more information click here.
For the lack of appropriate standards in Bulgaria devoted to the treatment of children with congenital facial anomalies (CFA), there are different problems related to family, society, and specialists: early prenatal diagnosis; prevention of abandonment of children with CFA; clinical protocol to coordinate the work of the specialists; only Surgical Treatment is paid by National Health Insurance Fund (NHIF); social stigma of patients with CFA. Hence, professionals from different European countries, including Bulgaria, ratified CEN/TR 16824:2015 „Early care services for babies with cleft lip and palate“of the European Committee of the Standardization in 2015. On the basis of this document, a Bulgarian analogue was issued to help families in need, aligning the criteria for assessment of clinicians, and opportunities for international cooperation to support and achieve sustainable outcomes. For more information click here.
Dandy-Walker (DW) malformation is a rare and severe congenital anomaly of the posterior fossa affecting the development of the cerebellum and the fourth ventricle. The aim of this study was to investigate the epidemiology of DW malformation, using data from the European population-based registries of congenital anomalies in the European Surveillance of Congenital Anomalies network. Anonymous individual data on cases of DW malformation diagnosed in 2002-2015 from 28 registries in 17 countries were included. Prevalence, prenatal detection rate, proportions and types of associated anomalies were estimated. Cases of DW variant were considered and analysed separately. This European population-based study provides the epidemiological profile of DW malformation. All birth outcomes were analysed and TOPFA represented more than half of the cases. About 50% of the cases of DW malformation were associated with other non-cerebral anomalies. Large populations and all birth outcomes are essential in epidemiological studies of rare and severe congenital anomalies. For more information click here.