| Abstract [eng] |
Rare diseases (RD) – life menacing or slowly emaciating diseases of extremely low incidence (less than 5 cases in 10,000 EU inhabitants). The term was launched by Neil A. Holtzman in 1978. There are about 5,000 – 8,000 RD, each manifesting itself in some life stage of about 6% of EU population, that amounts from 29 to 36 million people. In Lithuania that would make about 200,000 people. The majority of RD are genetic (80%), the remaining consist of rare cancer forms, autoimmune diseases, inborn developmental anomalies, toxic or contagious illnesses. The author presented an analytical review of 22 publications on RD. Historical indications about RD could be found in anatomical museums, ancient medical books, and folk art. In the collection of anatomical specimens of Medical Faculty of Vilnius University the author has discovered a unique case of human anotocephaly and eleven more nosological entities of RD (congenital anomalies). The main sources for information on RD are registers and data bases. This is the only way to obtain sufficient samples for epidemiologic and/or clinical research. Lithuanian Register of Congenital Anomalies (LIRECA) and autopsies data base were reviewed by the author and analyzed by statistical research models applicable in registration of RD, in particular Poisson linear model and logistic (binomic) regression. Analysis of standardized remainders confirmed their adequacy and suitability. Biological asymmetry was evaluated by analysis of polysyndactyly syndrome. The established increase of general and fluctuating asymmetry reflects unequal expression of developmental plan in both bilaterally symmetric sides of the organism in genetic diseases. Interdisciplinary biomics (systeomics) and separate “omics” of today’s science strive to explicate biological and chemical rules of organism functioning. Phenomics is one of the branches of biomics. This term is usual in plant genetics, and means the analysis of mutant phenotypes. Analysis of patient’s phenotypes is one of important methods in genetic counselling. In the strict meaning “phenotype” is understood as the characteristics of patient’s external features. The term “phenomics” would be suitable for the holistic analysis of patients’ phenotypes. RD amount to 10.1% patients counselled by the author. Quantitative and qualitative characteristics were analyzed in patients with monogenic, chromosomal diseases, teratogenic syndromes and congenital anomalies due to other factors. Further tasks in RD phenomics are foreseen: organization of the RD monitoring system in Lithuania, and development of expert system. |
