Management options for rare diseases in children and adolescents in Georgia (experience of the country with transitional economy).

We present the results of our research and organizational work aimed at the management optimization for the rare diseases in Georgia (the Country with Transitional Economy). We compiled a list of the rare diseases actual for Georgia; elaborated algorythms and expert systems supporting the diagnosis making process for various clusters of the rare diseases; translated into Georgian and adapted textual materials regarding the management of various rare disorders; assessed the awareness level for the rare diseases of the pediatricians and general practioners in Georgia and attempted to raise it by organizing seminars and conferences, including international ones, in various regions of Georgia; elaborated a model of the expert system (based on the fuzzy logic principles) for unmasking the cases suspicious for the rare disease; laid the foundation for the national register of the rare diseases in children and adolescents; elaborated the module for post-graduate education regarding rare diseases; organized the center for the rare diseases.

Hallermann-Streiff syndrome: a case report from Georgia.

We report a 9 years and 6 month old boy with the Hallermann-Streiff syndrome (HSS). The patient was referred by a pediatrician. The diagnosis was established by endocrinologist based on the presence of specific facial gestalt (bird-like face) and bilateral congenital cataracts. The patient was not short, but had mild mental retardation; hypotrichosis was represented by Sign of Hertoghe (Queen Anne's sign) only. Thyroid function was normal. X-ray study yielded valuable data. The night apnoea (secondary to the dyscephalic narrowing of the upper airways) constituted the major concern. We also discuss diagnostic criteria for the HSS along with significance of various clinical signs. Combination of specific facial gestalt and ocular abnormalities should be particularly alarming. Endocrine aspects of the HSS are reviewed. X-ray study is recommended as an inexpensive and readily available but informative tool.

Expert diagnosis in tall stature: edits 1.1 diagnostic software efficacy.

EDITS (Expert Diagnosis In Tall Stature) expert system version 1.1 was evaluated by making it diagnose sets of clinical and laboratory criteria published as case reports in medical scientific literature, and analyzing the results obtained. The case reports were selected by means of the PubMed database. Processing the input data yielded a list of the top five most-probable disorders, ranked in the order of likelihood along with their probability. 21 cases of 12 diseases were processed. In 14 cases out of 21 (66.67%) the referral diagnosis was included in the top five most probable diagnoses listed by the expert system. In 64.29% of all the cases when the correct diagnosis was put on the top five list, the correct diagnosis ranked first. The efficacy of EDITS 1.1 is in line with that demonstrated by SYNDROC, POSSUM, OMIM and the Expert System for Differential Diagnosis of Hereditary Neuromuscular Diseases in Children. EDITS 1.1 diagnostic software proved to be a useful practical tool for differential diagnosis of disorders that may be manifested by the tall stature syndrome.

An expert system for differential diagnosis of tall stature syndrome.

There was created medical expert system for differential diagnosis of disorders and diseases manifested by tall stature. They were selected based on the information provided by two major computer databases, LDDB [London Dysmorphology Database] and Orphanet. Clinical signs, i.e. diagnostic criteria were developed according to 7 experts: manuals and textbooks, computer databases and online resources in pediatrics and rare diseases. Linguistic terms expressing the frequency and/or probability of presence of various symptoms were matched to numerical equivalents. The data from different experts were summarized according to the expertons' method and the inference engine was based on the Bayes theorem. An interface was made up by a set of slides with questions accompanied by boxes beside and user is expected to check corresponding boxes. The program was created in Borland C++ Builder. After having processed the entered data, the expert system produces the most probable five diagnostic possibilities and ranks them in order of likelihood.