Stevens-Johnson Syndrome (SJS) and toxic epidermal necrolysis (TEN) are serious and rare diseases, most often drug-induced, and their incidence has been estimated at 6 cases/million/year in France. SJS and TEN belong to the same spectrum of disease known as epidermal necrolysis (EN). They are characterized by more or less extensive epidermal detachment, associated with mucous membrane involvement, and may be complicated during the acute phase by fatal multiorgan failure. SJS and TEN can lead to severe ophthalmologic sequelae. There are no recommendations for ocular management during the chronic phase. A national audit of current practice in the 11 sites of the French reference center for toxic bullous dermatoses and a review of the literature is conducted to establish therapeutic consensus guidelines. Ophthalmologists and dermatologists from the French reference center for epidermal necrolysis are asked to complete a questionnaire on management practices in the chronic phase of SJS/TEN. Based on the results from the survey and literature review, an evaluation form to facilitate ophthalmic data collection in the chronic phase of EN is proposed and also an algorithm for the ophthalmologic management of ocular sequelae is recommended. Read the full article here.
Spinocerebellar ataxia type 11 (SCA11) is a rare type of autosomal dominant cerebellar ataxia, mainly characterized by progressive cerebellar ataxia, abnormal eye signs and dysarthria. SCA11 is caused by variants in TTBK2, which encodes tau tubulin kinase 2 (TTBK2) protein. Only a few families with SCA11 were described to date, all harbouring small deletions or insertions that result in frameshifts and truncated TTBK2 proteins. In addition, TTBK2 missense variants were also reported but they were either benign or still needed functional validation to ascertain their pathogenic potential in SCA11. The mechanisms behind cerebellar neurodegeneration mediated by TTBK2 pathogenic alleles are not clearly established. There is only one neuropathological report and a few functional studies in cell or animal models published to date. Moreover, it is still unclear whether the disease is caused by TTBK2 haploinsufficiency of by a dominant negative effect of TTBK2 truncated forms on the normal allele. Although TTBK2 has a proven function in cilia formation, the phenotype caused by heterozygous TTBK2 truncating variants are not clearly typical of ciliopathies. Thus, other cellular mechanisms may explain the phenotype seen in SCA11. Read the full article here.
The term HIPPOTHERAPY comes from Ancient Greece and is derived from the Greek words hippos – horse and therapeia – treatment. By its very nature, hippotherapy affects both the physical and the psycho-emotional state of a person. It is a complex method of improving the general condition of the individual. Hippotherapy is aimed at rehabilitation and social integration. It has proven beneficial effectiveness on children and people with a number of syndromes, conditions on the autism spectrum and patients after a stroke. It also has a beneficial effect on deviant behavior. Therapeutic horse riding is a complementary therapy as part of the overall rehabilitation process. It includes certain exercises and movement tasks within the riding activity. The preparation of a program for the courses of the rehabilitation process is based on the information presented in the patients health record. It is of great importance the sequence and the series of exercises, to be strictly followed.
Part of the monograph “Partnership with a rehabilitation goal – impact of hippotherapy methods on the human organism” by Dalia Avramova – equestrian trainer, master’s degree in Adapted Physical Activity and Sports.
Australian Genomics: Outcomes of a 5-year national program to accelerate the integration of genomics in healthcare
Australian Genomics is a national collaborative partnership of more than 100 organizations piloting a whole-of-system approach to integrating genomics into healthcare. In the first five years of operation, Australian Genomics has evaluated the outcomes of genomic testing in more than 5,200 individuals across 19 rare disease and cancer flagship studies. Comprehensive analyses of the health economic, policy, ethical, legal, implementation and workforce implications of incorporating genomics in the Australian context have informed evidence-based change in policy and practice, resulting in national government funding and equity of access for a range of genomic tests. Simultaneously, Australian Genomics has built national skills, infrastructure, policy, and data resources to enable effective data sharing to drive discovery research and support improvements in clinical genomic delivery. Read the full article here.
Deep next-generation proteomics and network analysis reveal systemic and tissue-specific patterns in Fabry disease
Fabry disease (FD) is an X-linked lysosomal rare disease due to a deficiency of α-galactosidase A activity. The accumulation of glycosphingolipids mainly affects the kidney, heart, and central nervous system. Although the accumulation of undegraded substrate is considered the primary cause of FD, it is established that secondary dysfunctions at the cellular, tissue, and organ levels ultimately give rise to the clinical phenotype. To parse this biological complexity, a large-scale deep plasma targeted proteomic profiling is performed. In this report the plasma protein profiles of FD deeply phenotyped patients (n = 55) is analyzed compared to controls (n = 30) using next-generation plasma proteomics including 1463 proteins. Systems biology and machine learning approaches is used. The analysis enables the identification of proteomic profiles that unambiguously separates FD patients from controls. The findings highlight the pro-inflammatory cytokines’ involvement in FD pathogenesis along with extracellular matrix remodeling. This study shows a tissue-wide metabolic remodeling connection to plasma proteomics in FD. These results will facilitate further studies to understand the molecular mechanisms in FD to pave the way for better diagnostics and therapeutics. Read the full article here.
Today we celebrate the International Day of Rare Diseases. On this occasion, the Institute for Rare Diseases and the Association of Medical Students – Plovdiv (ASM- Plovdiv) with the support of the National Alliance of People with Rare Diseases (NAHRB) and the Municipality of Plovdiv are organizing a photo contest for all students from Medical Universities in the country with a passion for photography. Residents of Plovdiv will have the opportunity to visit the photo exhibition in the period from 20.02.2023 to 12.03.2023 at the Roman Stadium square.
Medical science has identified between 5,000 and 8,000 rare diseases that affect between 6% and 8% of the population. Although a rare disease usually affects a small number of people, the total number of people with rare diseases in the EU is between 27 million and 36 million. In Bulgaria, people with rare diseases are 5% of the population, which means that in our country every 1 in 20 people has a rare disease. One of the mechanisms for improving the care of these people and their families is to increase the awareness and visibility of these diseases within the health system itself and among our society.
Today at 12.00 in the “2019” Exhibition Hall – City Art Gallery, the winners of the photo contest were officially awarded. The event was attended by students from all Medical Faculties in the country, Bulgarian and foreign language studies. 69 author’s photos were submitted by doctors, dentists and rehabilitators. 4 author’s photographs were awarded.
Welcome words on behalf of the Municipality of Plovdiv were delivered by Georgi Tityukov, Deputy Mayor “Sports, Youth Activities and Social Policy”. Yordanka Petkova, a representative of the National Alliance for People with Rare Diseases, emphasized the need for such events, as well as that the current students will be future doctors who will provide medical care for rare disease patients.
Prof. Rumen Stefanov presented the latest developments in the field of rare diseases. Presentation of some of the participants in the photo contest and the awarded students was made by Kristina Petrova – president of ASM-Plovdiv.
Third prize went to Ralitsa Dimitrova, 1st year dental medicine student at MU – Varna, with her photography “Solar Perspectives”.
Teodora Gencheva’s photograph called “Support in Our Hands” was awarded the second place. Teodora Gencheva is a third-year medical student at the Medical University – Plovdiv.
The prize for the best photography went to Maria-Hris Slavova with “Life is Like a Butterfly”. The winner is a second-year medical student at the Medical University – Plovdiv.
An additional audience award went to Veselina Kmetska, who is a student at the Faculty of Medicine at “Prof. Dr. Asen Zlatarov” University. Her work is titled “Nature Draws.”
During the event, more than 200 guests were present, including professors from the Medical University – Plovdiv, officials, the awarded medical students and their colleagues, as well as students from two Plovdiv high schools.
Rare diseases (RDs), more than 80% of which have a genetic origin, collectively affect approximately 350 million people worldwide. Progress in next-generation sequencing technology has both greatly accelerated the pace of discovery of novel RDs and provided more accurate means for their diagnosis. RDs that are driven by altered epigenetic regulation with an underlying genetic basis are referred to as rare diseases of epigenetic origin (RDEOs). These diseases pose unique challenges in research, as they often show complex genetic and clinical heterogeneity arising from unknown gene-disease mechanisms. Furthermore, multiple other factors, including cell type and developmental time point, can confound attempts to deconvolute the pathophysiology of these disorders. These challenges are further exacerbated by factors that contribute to epigenetic variability and the difficulty of collecting sufficient participant numbers in human studies. However, new molecular and bioinformatics techniques will provide insight into how these disorders manifest over time. Read the full article here.
Aicardi-Goutières syndrome (AGS) is a rare genetic disorder involving the central nervous system and autoimmune abnormalities, leading to severe intellectual and physical disability with poor prognosis. AGS has a phenotype similar to intrauterine viral infection, which often leads to delays in genetic counseling. In this study, a case with a prenatal diagnosis of AGS is reported. The first fetal ultrasound detects bilateral lateral ventricle cystic structures, and fetal MRI is performed to identify other signs. The right parietal lobe signal shows cerebral white matter abnormalities, and fetal brain development level is lower than that of normal fetuses of the same gestational age. Whole-exome sequencing is performed and the final comprehensive diagnosis is AGS1. In this article, also the previous literature for possible phenotypes in the fetus is preformed and the conclusion that microcephaly and intrauterine growth retardation may be the first and most important markers of the intrauterine phenotype of AGS is made. Read the full article here.
The Institute of Rare Diseases and the Association of Medical Students – Plovdiv with the support of the National Alliance of People with Rare Diseases and the Municipality of Plovdiv introduced the photo exhibition “Rare Nuances in The Colours of Life” today at the Roman Stadium Square at 11:00 AM.
Students from all Medical Faculties in the country, Bulgarian and foreign language studies, took part in the event. 69 authors’ photos were submitted by doctors, dentists and rehabilitators.
The current competition is held on the occasion of the International Day of Rare Diseases – 28th February – and aims to contribute to better knowledge and understanding of rare diseases to students of medical universities. As well as to increase the awareness and visibility of these diseases in the healthcare system itself and among society as a whole.
Residents of Plovdiv will have the opportunity to show their empathy for patients with rare diseases by visiting the photo exhibition in the period 20.02.2023-12.03.2023 at the Roman Stadium Square.
An unusual case of Takayasu arteritis presenting as acute myocardial infarction and ischaemic stroke
Takayasu’s arteritis (TA) is well-known yet rare disorder, defined as a chronic large vessel vasculitis mainly involving the aorta and its major branches. A case of 51-year-old female patient who is admitted at the Clinic of Nephrology and Clinical Immunology is presented. During hospitalization, a sudden onset of intense chest pain occurres, followed by a development of heart failure to the level of cardiogenic shock. Electrocardiography shows signs of ST-elevated myocardial infarction (STEMI) of the anterior wall, and an increase in cardiospecific enzymes. CT angiography indicated an occlusion of the left common carotid artery (ACC), subclavian and axillary arteries as well as a penetrating aortic ulcer localized infrarenal. In the further course of treatment, left-sided weakness of the body is registered. Head CT scan shows an acute ischemic lesion high parietal on the right, as well as a chronic ischemic lesion on the front right. Final diagnosis of Takayasu arteritis is established and corticosteroids is included in the therapy. This disease should be considered in female patients who present with chronic inflammation and acute coronary syndrome. Read the full article here.