Beckwith-Wiedemann Syndrome (BWS) is one of the most common overgrowth syndromes. Cancer predisposition is an important feature of this clinically heterogeneous syndrome. Patients may have fetal and early childhood overgrowth, hemihyperplasia, macroglossia, facial dysmorphic features, abdominal wall defects, visceromegaly, and anomalies of the heart and the kidneys. Various previous investigations showed that heterogeneous molecular etiology may contribute to clinical variability and that epigenotype-phenotype correlations exist in BWS. This study was performed to detect the molecular etiology in 28 patients with BWS, to search for epigenotype-phenotype correlations and to provide appropriate individualized multidisciplinary approach. Four different molecular etiology groups were determined based on testing for copy number analysis and methylation status at 11p15. Sequencing for CDKN1C mutations were also performed. Groups were compared for various clinical findings. Differences between groups were not statistically significant owing to the small number of patients in individual groups. Statistical studies for epigenotype-phenotype correlations showed significance for only anterior ear lobe creases, visceromegaly and embryonal tumors. Additionally, one interesting patient had a mesenchymal tumor. Anticipating follow-up is clinically important in BWS.
Introduction: The objective of this study is to determine the prevalence of malnutrition risk (MR)/malnutrition (MN) in cancer patients using MNA. Methods: This observational study was conducted with cancer patients in the Izmir Katip Celebi University Ataturk Training and Research Hospital Medical Oncology Outpatient Clinic. Demographic data, daily functional status according to the Eastern Cooperative Oncology Group (ECOG), nutritional status according to Mini Nutrition Assessments (MNA) and anthropometric measurements obtained with TANITA Body Composition Analyzer Model TBF-300 (TANITA) were used in the evaluation of patients. Results: The study enrolled 296 oncology patients. The mean age was 58.34 ± 11.60 years. Two hundred and eight (70.3%) of the patients were women. The most common three tumor types were breast tumors (43.2%; n=128); gastrointestinal tract tumors (33.1%; n=98), genitourinary tract tumors (10.8%: n=32). The mean BMI of the patients was 27.45 ± 5.75 m2/kg. According to MNA 118 of the patients were in normal nutritional status (39.9%). 130 of them were at the risk of malnutrition (43.9%), 48 of them were malnourished (16.2%). Conclusion: In cancer patients, the prevalence of malnutrition and malnutrition risk is significantly high, and this may alter the patient's life quality and expectancy. Therefore, the nutritional status of every patient that is diagnosed with cancer should be assessed in early stages of the disease.
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