The Incidence of Inflammatory Bowel Disease in the Paediatric Population in the District of Lower Silesia, Poland

The incidence of IBD has been rising over the last decades. The trend applies not only to well-developed countries but also to the regions with limited number of cases so far, e.g., Asia or Middle East. Aim: The aim of the study was to determine the incidence of paediatric IBD in the district of Lower Silesia, Poland, between 2016 and 2018. Methods: The number of newly diagnosed IBD per 100,000 children, living in the region, was calculated. The characteristics of the group were established. Results: There were 81 cases of paediatric IBD diagnosed between the 1st of January 2016 and 31st of December 2018. The diagnosis of ulcerative colitis (UC) was made for 42 children. In the same period of time 39 cases of Crohn disease (CD) were recognised. The incidences were calculated as 2.57 for UC, and 2.38 for CD. The total incidence of IBD between 2016 and 2018 was 4.96/100,000/year which is rise in the last 20 years. Conclusion: An increase in incidence of IBD in the district of Lower Silesia has been observed

Fakomatozy – znaczenie badań genetycznych dla personalizacji postępowania klinicznego (część 1.)

Genetically determined disorders of tissue development, which are derived from the ecto-, endo- and mesoderm and develop in the early stages of foetal life, referred to as phacomatoses, constitute a large group of diseases predisposing to development of neoplasms. Early diagnosis, including identification of mutations and clinical evaluation, enables introduc­tion of multidisciplinary care for patients with a confirmed diagnosis. Thus, the long-term prognosis and quality of patients’ life can be improved. The most common phacomatoses include neurofibromatosis types 1 and 2 and schwannomatosis.Genetycznie uwarunkowane zaburzenia rozwoju tkanek, które wywodzą się z ekto-, endo- i mezodermy i powstają na wczesnym etapie życia płodowego, zwane fakomatozami, stanowią liczną grupę schorzeń predysponujących do rozwoju nowotworów. Wczesna diagnostyka obejmująca identyfikację mutacji oraz ocenę kliniczną umożliwia objęcie pacjentów z potwierdzonym rozpoznaniem wielospecjalistyczną opieką. Dzięki temu można poprawić długoterminowe rokowanie oraz jakość życia chorych. Do najczęstszych fakomatoz należą: nerwiakowłókniakowatość typu 1 i 2 oraz schwannomatoza

Fakomatozy, znaczenie badań genetycznych dla personalizacji postępowania klinicznego (część 1).

Genetically determined disorders of tissue development, which are derived from the ecto-, endo- and mesoderm and develop in the early stages of foetal life, referred to as phacomatoses, constitute a large group of diseases predisposing to development of neoplasms. Early diagnosis, including identification of mutations and clinical evaluation, enables introduc­tion of multidisciplinary care for patients with a confirmed diagnosis. Thus, the long-term prognosis and quality of patients’ life can be improved. The most common phacomatoses include neurofibromatosis types 1 and 2 and schwannomatosis.Genetycznie uwarunkowane zaburzenia rozwoju tkanek wywodzących się z ekto, endo i mezodermy, powstające na wczesnym etapie życia płodowego zwane fakomatozami stanowią liczną grupę schorzeń predysponujących do rozwoju nowotworów . Wczesna diagnostyka obejmująca identyfikację mutacji oraz ocenę kliniczną umożliwia objęcie pacjentów z potwierdzonym rozpoznaniem wielospecjalistyczną opieką, co poprawia długoterminowe rokowanie oraz wpływa na podwyższenie jakości życia chorych. Do najczęstszych fakomatoz należą: nerwiakowłókniakowatość typu 1 i 2 oraz Schwannomatoza

Selected syndromes of hamartomatous polyposis of the gastrointestinal tract – clinical and genetic aspects

Hamartomatous polyp syndromes are a clinically and genetically heterogenous group of rare disorders that fall into the category of inherited predisposition to cancer. They include Peutz-Jeghers syndrome, Cowden syndrome, juvenile polyposis and mixed hereditary polyposis. Although the shared common characteristic is the presence of multiple po­lyps in the gastrointestinal tract, they differ by the number, age of onset and histopathological features of the polyps, clinical picture and presentation, as well as the approach to genetic testing. With the recognition of the importance of providing high quality medical care, that is equal diagnostic and therapeutic opportunities to patients with rare disorders (Uchwała nr 110 Rady Ministrów z dnia 24 sierpnia 2021 r. w sprawie przyjęcia dokumentu „Plan dla chorób rzadkich”), the authors would like to present the essential (fundamental) aspects of the above-mentioned syndromes

Selected syndromes of hamartomatous polyposis of the gastrointestinal tract – clinical and genetic aspects

Hamartomatous polyp syndromes are a clinically and genetically heterogenous group of rare disorders that fall into the category of inherited predisposition to cancer. They include Peutz-Jeghers syndrome, Cowden syndrome, juvenile polyposis and mixed hereditary polyposis. Although the shared common characteristic is the presence of multiple po­lyps in the gastrointestinal tract, they differ by the number, age of onset and histopathological features of the polyps, clinical picture and presentation, as well as the approach to genetic testing. With the recognition of the importance of providing high quality medical care, that is equal diagnostic and therapeutic opportunities to patients with rare disorders (Uchwała nr 110 Rady Ministrów z dnia 24 sierpnia 2021 r. w sprawie przyjęcia dokumentu „Plan dla chorób rzadkich”), the authors would like to present the essential (fundamental) aspects of the above-mentioned syndromes