Acquired thrombotic thrombocytopenic purpura (аTTP) is a rare disease with a variety of clinical manifestations, including fever, anemia, thrombocytopenia, neurological symptoms and acute renal injury. This condition was first described in 1924. Nowadays the pathophysioimmunological aspects that distinguish aTTP from other thrombotic vasculopathies serve as a target for innovative therapies. TTP consists of hereditary and acquired types. The acquired one could be further divided into idiopathic and secondary. The current classification of the World Health Organization puts TTP in the category of thrombotic microangiopathies.The epidemiological study of aTTP is a difficult process due to a number of objective factors. This condition is characterized by a distinctive laboratory immunological panel, which is often missing in most clinical centres. The presence of severe clinical presentations, common comorbidities and rapid lethal progression are also obstacles to understand aTTP’s real-world prevalence.This publication aims to analyse the available epidemiological data on aTTP, as well as to provide an estimate of this condition’s prevalence in Bulgaria. Read the whole article here.
Narcolepsy is a neurological disease characterized by chronic, excessive, daytime sleepiness, cataplexy, hypnagogic hallucinations, and sleep paralysis. Type 1 narcolepsy (narcolepsy with cataplexy) has been linked to low levels of a specific neurotransmitter called hypocretin (orexin), which is responsible for regulating sleep, appetite and body temperature. In people with narcolepsy the number of hypocretin-producing neurons is significantly reduced, and in some individuals the missing neurons reach 80-90%. The main clinical manifestations are excessive daytime sleepiness and disturbed sleep during the REM phase. Sleep paralysis, cataplexy, and hypnagogic hallucinations are also manifestations of narcolepsy.In addition to medical treatment, nutrition is an important part. In order, to prevent obesity in patients with narcolepsy, it is necessary to establish a balanced diet, physical activity and sleep, fully consistent with their condition. Orexin secretion could be increased by higher intake of protein, fiber, omega-3 fatty acids, lactate, fructose, fermented foods and physical activity. Orexin secretion is reduced by sugar intake. Recommended micronutrients for narcolepsy control are calcium, magnesium, choline, omega-3 fatty acids, B vitamins, vitamin C. In addition to the type of food consumed, eating habits also have an impact. Skipping breakfast and irregular eating patterns are also associated with poor sleep quality. Treatment should be completed by an adequate lifestyle and diet, including a balanced intake of macro- and micronutrients, physical activity and quality sleep. Read the whole article here.
Aim: To assess the pharmacists’ role in the timely identification of actual and potential drug-related problems (DRPs) in the course of drug dispense, in optimizing therapy and in monitoring the acromegaly patients’ condition.
Material and methods: A review of the scientific literature has been performed. A review and analysis of the summary of product characteristics of medicinal products used in patients with acromegaly, the pharmacotherapeutic guidelines and guidelines for the inclusion of the pharmacist in the overall care for acromegaly patients were performed. The review resulting in proposing key steps and an algorithm for integration of community pharmacists into care for patients with acromegaly.
Results: The pharmacist has a crucial role in timely identification of actual and potential DRPs. Possible DRPs among acromegaly patients are adverse drug reaction (ADRs), drug-drug interactions, non-adherence to therapy, wrong application and storage of medicines. Problems related to injection application could be minimized through effective patients’ education about injection technique and regimen. The main ADRs specific for somatostatin analogues (SSA) are digestive problems, hyperglycemia, diabetes, increased levels of liver enzymes. Beta-blockers and antidiabetic medications dose correction is needed due to possible interactions with SSA. The main factors for non-adherence to therapy on which the pharmacist should focus on are adverse effects, lack of symptoms, financial problems, lack of motivation, inappropriate administration and inconvenient route of administration.
Conclusions: The choice of the most appropriate therapy for every patient, the multidisciplinary approach, the active participation of the pharmacist in the identification and prevention of DRPs and long-term monitoring are the keys for achieving the therapeutic goals in acromegaly patients. Read the whole article here.
Mandibular gunshot wounds are aesthetically and functionally devastating, causing broken fractures and destruction of adjacent tissue depending on the size of the weapon. In this article, we present a case of a 46-year-old patient who was admitted as a matter of urgency after a suicide attempt with a modified gas pistol. The patient made a shot in the area of the chin of the lower jaw. A review X-ray of the skull – full face profile revealed a fracture of the mentum mandible with fragmentation. Intermaxillary fixation was also placed intraorally, by placing standard Vassilev splints and soft fixation. On the 3rd day after the operation, a control graph was made to assess the stability of fixation and stabilization. Read the whole article here.
Surgical therapy is the main option for the treatment of tongue cancer, while radiation therapy and chemotherapy are additional concomitant therapies. In this article, we present a case of a patient admitted for treatment with suspected cancer of the tongue. Lateral surface of the tongue on the right side during the examination revealed the presence of a lesion measuring 3.5×2.5. After histological examination, the patient was diagnosed with invasive highly differentiated keratinized squamous cell carcinoma of the tongue. Hemiglosectomy was performed, preserving the lingual artery, without neck lymph dissection. Postoperatively, the patient was prescribed radiotherapy of 30 grays in total. Read the whole article here.
Introduction: Hereditary retinal dystrophies are a heterogeneous group of diseases with a relatively low frequency in the human population, characterized by involvement of different retinal layers, most often the complex retinal pigment epithelium – photoreceptors and causing severe visual impairment – loss of night vision, visual field, color vision and visual acuity in the initial stages and leading to progressive and severe loss of visual function by altering the retinal anatomy and function.
Objective: To present the modern diagnostic methods that provide accurate diagnosis of hereditary retinal dystrophies, which is essential for a proper therapeutic approach.
Methods and results: The development of medical science and technology has led to the introduction of new, increasingly sophisticated methods for early diagnosis of these diseases – the electrophysiological studies have become more complex and informative. Together with computer automated perimetry, optical coherence tomography (OCT), angioOCT, fluorescein angiography, fundus autofluorescence and adaptive optics, they allow very accurate topographical localization of the defect. And together with the advances in genetics, optogenetics, molecular biology, retinal biochemistry and regenerative medicine, they provide a better understanding of the mechanism of these diseases and increase the therapeutic opportunities.
Conclusion: The knowledge of modern methods of diagnosis of hereditary retinal dystrophies ensures accurate diagnosis of the different nosological groups, which is a prerequisite for a proper therapy. Read the whole article here.
“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.
Since its inception, the paradigm of health technology assessment (HTA) has been constantly evolving. This is a completely natural process given the development of medical science and the accelerated penetration of innovative health technologies.In recent years, however, there has been a growing trend to increase transparency in pricing and to promote performance-based reimbursement of health technologies.
On July 24, 2020, Italy officially promulgated a new regulation on HTA, which, among other things, significantly increased public control over pricing and reimbursement of all new medicinal products. This article aims to summarize and critically analyze the most important of these changes and their significance for the European policy and practice in the field of HTA. Read the whole article here.
The new issue of our scientific journal Rare Diseases and Orphan Drugs is now online. The issue contains 8 publications on various topics. The editorial is “Regulation (EC) № 141/2000 for orphan medicinal products – 20 years later”.
This year marks the 20th anniversary of the entry into force of the Regulation (EC) № 141/2000 on orphan medicinal products. This legislation determines the criteria for the designation of orphan medicinal products for the prevention, diagnosis and treatment of rare conditions, as well as provides incentives for their research, development and marketing. Although rare diseases appear in some earlier documents of the European legislation, this regulation is the first to specifically and exclusively address the problems of people with rare diseases and their families in Europe.
Twenty years later, it is time for reconsideration. In this context, the European Commission conducted a series of public consultations with various stakeholders, followed by a study of the effect and results of Regulation (EC) № 141/2000. There are many reasons for satisfaction, but the identified problems are not few. However, on the most important issue – adequate access of patients with rare diseases to therapy with orphan drugs – the success is partial. Yes, the number of orphan drugs with a marketing authorization in the EU is significant. But at the same time, there are huge inequalities in access to them across member states. A significant part of these therapies remain inaccessible to Eastern European patients. Read the whole article here.
The monograph “Hereditary retinal dystrophies” by Assoc. Prof. Dr. Elena Mermeklieva describes the nature of hereditary retinal dystrophies, which are genetic diseases from the group of “rare eye diseases”. The etiopathogenesis, the clinical presentation, the modern diagnostic methods, as well as the possibilities and perspectives for treatment of the separate nosological entities are described in detail. The most up-to-date scientific information on the topic is presented, as well as interesting examples from the author’s practice. The social aspects related to these rare but severely disabling diseases are also considered.The topic would be of interest to ophthalmologists, geneticists, electrophysiologists, molecular biologists, optometrists and social workers, as the right care for these patients requires close collaboration and good cooperation between all these specialists.