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.
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.
The access to innovative health technologies remains a main point for debate in the contemporary health policy. Finding a solution that is mutually beneficial for everyone can be extremely complicated, even impossible in certain cases. Recently, interest in regulatory practice has been the ability to enforce compulsory licensing in the pharmaceutical industry. This legal option, or rather the threat of using it, may play a role in negotiating access to new therapies. At the same time, however, it is an extreme measure with many unknown long-term consequences for the health sector and society. For more information click here.
The aim of this study is to perform a clinical and economic evaluation of pasireotide for patients with Cushing’s disease and acromegaly from the Bulgarian health insurance system point of view. A systematic review in internet-based databases for pasireotide efficacy and safety studies was performed. A top-down approach was applied to identify the medicines costs paid by the National Health Insurance Fund (NHIF) for the period 2016-2018. The costs were compared using statistical software MedCalc and extrapolated for the next 3 years applying linear functions. Mann-Whitney test for independent samples was applied for testing statistically significant differences. For more information click here.
Acromegaly is a progressive rare disease associated with excessive growth hormone production. Described by progressive somatic disfigurement (mainly including the face and extremities) and causing multi-systemic arrangements. People with this disease are at risk of severe disability and life-threatening health problems. Acromegaly is a treacherous chronic disease that occurs with increased morbidity and mortality from cardiovascular, metabolic and neoplastic complications. Disease control can easily be assessed with modern clinical and laboratory methods, but the patient’s self-assessment of Wellbeing and Quality of Life is paramount. Although acromegaly is a rare disease, the burden on Health-related Quality of Life (HRQoL) is significant due to the wide range of concomitant complication and the need for lifelong management. The purpose of this review is to present actual data on the epidemiology of acromegaly and the impact of the disease on the Quality of Life of patients. For more information click here.