Sorry, this entry is only available in Bulgarian.
Sorry, this entry is only available in Bulgarian.
Sorry, this entry is only available in Bulgarian.
“An Unknown Rare Disease in Bulgaria – Tarlov Cysts” is one of the topics that were discussed during the XI National Conference on Rare Diseases and Orphan Drugs, held on 11-12 September 2020 at the Virtual Congress Center of the Institute of Rare Diseases . The lecture is presented by Mrs. Monika Marinova, founder of the Association of Tarlov Patients in Bulgaria – Treatment without borders and a member of the National Alliance of People with Rare Diseases. Watch the full video on the YouTube channel of the Institute of Rare Diseases.
Neurofibromatosis type 1 (NF1) is an inherited disease characterized by skin hyperpigmentation (most commonly café au lait), multiple tumors in the central and peripheral nervous system, vascular changes, and cognitive impairments. NF1 is predominantly inherited disease, affecting both genders, and in half of the cases it is a de novo mutation. There is a great variability of the disease manifestations even among members of the same family. Life expectancy in patients with NF1 is reduced by 10-15 years on average, with malignancies being the most common cause of death. Even though there are established clinical diagnostic criteria, more than a half of sporadic cases may remain unrecognized in early childhood. Recently, an improvement of the NF1 diagnosis has been observed due to increased awareness and implementation of advanced molecular – genetic and imaging technologies. Patients with NF1 need adequate care and must be monitored closely by competent healthcare professionals utilising a multidisciplinary approach. This publication aims to analyze the available epidemiological data on NF1, as well as to provide an insight into NF1 prevalence in Bulgaria. For more information click here.
Angiolipomas are rare benign lipomatous lesions that differ from lipoma in their characteristic histology, consisting of mature adipocytes and prominent, proliferated, thin-walled blood vessels. They occur before puberty or in young adults and are usually presented as multiple, painful, slow-growing, small nodules located in the subcutaneous tissue of the forearm or elbows. Although they can be seen anywhere on the body, they are rare in the head and neck area. Treatment of angiolipomas requires a complete surgical excision. In the present report, we describe a rare case of angiolipoma of the back of the head in a 65-year-old woman. For more information click here.
Impacted tooth is one that has not fully or partially erupted and is “retained” in its eruption, remaining in the bone in the wrong position against another tooth, bone, or soft tissue, so that further eruption is unlikely. This condition is most common in third molars and is thought to be found in about 73% of young adults in Europe. Dentigerous cyst is the second most common odontogenic cyst and represents about 20-24% of all odontogenic cysts of the jaws. These cysts usually remain asymptomatic and rarely reach large sizes and displace the associated tooth. In our article we present four cases of impacted third molars with atypical localization and concomitant large dentigerous cysts. A brief review of the literature with similar findings is presented, as well as the different approaches to the treatment of these cases. For more information click here.
We present a case of a male patient admitted for emergency treatment at the Clinic for Maxillofacial Surgery of the University Hospital “St. George” in Plovdiv with suspected lower jaw fracture. The patient had previous nephrectomy for renal cancer in 2016. Bone metastases were detected in 2017 and therapy with Zometa was undertaken. In 2018 the patient was diagnosed with osteonecrosis of the mandible. The patient reports that he has been treated at another Clinic for Maxillofacial Surgery for extraction of impacted wisdom tooth. A few days after the removal of the threads during feeding, a strong cracking noise was heard in the region of the jaw angle at the side of the extraction. An orthopantomogram and computed tomography were performed, which revealed a pathological fracture. For more information click here.
The editorial in Rare Diseases and Orphan Drugs discussed the main challenges to the long-term sustainability and effectiveness of the European Reference Networks (ERMs), mainly clarifying the legal status of these structures, defining mechanisms of their engagement, collaboration and communication within the national health systems, seeking sources of funding and last but not least, generation of a sustainable product. Now, 2 years later, we come back to this topic. Not all of the above mentioned issues have been resolved, but one thing is clear – the ERMs are here to stay. The second stage of their expansion with new expert centers is expected to start in the autumn of 2020. The current pandemic clearly shows that developing and promoting services in an electronic environment is a high-return investment. The ERMs faces the unique opportunity not only to justify the work and efforts of doctors, patients, health authorities and the academy so far, but also to make a leap into the future. This task is more than ambitious and the challenges are not insignifican – the long-term sustainability and efficiency not only of the ERMs, but of the health systems in the European Union. For more information click here.
The new issue of our scientific journal Rare Diseases and Orphan Drugs is now online. The issue contains 5 publications on various topics. The editorial is “ The European Reference Networks during a pandemic – a step into the future?”. If you would like to receive the latest information on rare diseases and orphan drugs, how the diagnostics and treatment is performed Bulgaria, please follow the link.
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