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Title: Effect of dietary habits and attempts to modify them on the nutritional status and quality of life of patients with Turner syndrome


Turner’s syndrom is a genetically determined syndrome of malformations (among them: short stature, gonadal dysgenesis, abnormal body proportions, surface defects of the body and malformations of the internal organs - congenital urinary tract defects, congenital cardiovascular defects, autoimmune reactions, otolaryngological and opthalmological defects, changes in food intake and absorption and skeletal defects). caused by total or partial absence of one of heterochromosmes X in all cells of an organism or a part thereof. Despite the fact that many studies carried out independently in different centers of European and American points out that overweight and obesity were significantly more likely to, develop, earlier and faster in patients with this genetic condition, the aspect of nutritional care and diet are neglected, and their role in enhancing the effectiveness of treatment and elimination of modified risk factors of co-existing diet-related diseases is completely ignored. The aim of the study presented in this doctoral thesis was to assess the impact of dietary habits on nutritional status and quality of life of patients with Turner syndrome. The study was conducted during the period from December 2007 to the end of April 2009 in collaboration with the Endocrinology Clinic for Children and Youth of the University Children’s Hospital in Krakow. 25 girls with Turner syndrome ; aged 8-27 years were examined. In addition, 25 girls from initially healthy population aged 8-27 years were entered to the study and examined. In the study participants were assessed: 1) nutritional status: through the study of body composition based on: a) anthropometric measurements according to the Martin’s technique using a Swiss set of measuring instruments, b) measured by electrical bioimpedance using the Tanita Body Composition Analyzer - TBF-300 - before and after nutritional intervention, and also blood chemistry - the concentration of various lipid fractions and glucose levels - before and after nutritional intervention; 2) In addition, an assessment of the diet of patients with Turner syndrome using the questionnaire on dietary habits and 24-hour nutritional interview based on the current record - before and after nutritional intervention; 3) There has also been assessing the quality of life using a questionnaire WHQQQL-100; 4) Author’s personal interview based on a thorough questionnaire about the child’s disease perception in their mind was also conducted with mothers of patients with Turner syndrome. Preliminary results: anthropometric measurements and body composition assessment, biochemical blood tests, nutritional habits survey and 24- hour interview based on the current entry in the diary were the criterion for determining the allocation of study participants ; from Turner's syndrome and healthy population at baseline the intervention group (with implemented dietary recommendations for a period of one year - are provided in the appendix) or control group (no dietary recommendations implemented, diet as previously). In turn, the research conducted at 6 and 12 months were designed to monitor compliance with nutritional recommendations and assess their impact on the anthropometric parameters and lipid profile of patients. Based on the study can draw the following conclusions: 1) In the group of the resulting image anthropometric and blood biochemical profile were typical for patients with Turner syndrome; 2) Improper eating habits in conjunction with congenital defects and abnormalities characteristic of Turner syndrome were significantly more frequent cause, the earlier and faster prevalence of overweight and obesity in the study group; 3) Change irregular eating habits in the patients with Turner syndrome has contributed to very positive changes in their body composition and blood biochemical profile; 4) Integrating factor for all types of aid to patients with Turner syndrome and also the measure of their effectiveness is to improve the quality of life, which is significantly different from baseline quality of life in a healthy population.

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Level of degree:

2 - studia doktoranckie

Degree discipline:

zdrowie publiczne

Degree grantor:

Wydział Lekarski


Schlegel-Zawadzka, Małgorzata

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tylko w bibliotece

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Last modified:

Mar 17, 2023

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Mar 7, 2013

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Edition name Date
ZB-116785 Mar 17, 2023


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