Spontaneous mutation of the TCF2 gene as a cause of maturity-onset diabetes of the young type 5 (MODY5) - case report [Mutacja spontaniczna w obrebie genu TCF2 przyczyna cukrzycy MODY5 - prezentacja przypadku klinicznego]
Zmurowska B.,Katedra i Zaklad Medycyny Rodzinnej Uniwersytetu Medycznego |
Szymczyk A.,Studenckie Kolo Naukowe Przy |
Darda M.,Studenckie Kolo Naukowe Przy |
Kanas N.,Studenckie Kolo Naukowe Przy |
And 3 more authors.
Diabetologia Kliniczna | Year: 2015
MODY5 is one of the less common forms of MODY (1-2%). It is a genetic disorder inherited through an autosomal dominant mutation or deletion of the hepatocyte nuclear factor-1b gene. MODY5 is associated with genital tract malformations such as hypoplasia of uterus, hypoplasia of vagina, bicornuate uterus, other uterine malformations, hypospadias and atresia of vas deferens. Moreover, moderate idiopathic hyperuricaemia, elevated liver function tests (ALT, GGTP) without jaundice and with normal ultrasound image of the liver, pancreatic atrophy and pyloric stenosis were found in some patients. Objective: Description of the maturity-onset diabetes of the young type 5 (MODY5), a rare type of diabetes. A 30-year-old woman, with no family history of diseases, was repeatedly seen by various healthcare professionals because of her numerous non-specific symptoms: pain in the forehead, stomach pain, retrosternal pain, lower limbs pain, reduced right eye visual acuity, dizziness, photosensitivity, syncope, diarrhoea, nausea, weight loss, fatigue, action tremor of the whole body most prominent in the right upper limb and muscle weakness most notable in the morning. She was diagnosed with diabetes and was initiated on insulin therapy. Blood samples were taken for immunological and genetic investigations. Testing revealed the patient is heterozygous for mutation of deletion of the hepatocyte nuclear factor-1b gene, that is MODY5 gene. The patient was switched to OHA therapy. The mutation of factor-1b was not found in the patient's family. Ultrasound scanning of the abdomen revealed a 12 mm cyst with massive wall calcification in the right kidney and one cyst with solid component and three small, simple cysts in the central part of the left kidney. It also showed a 50 mm right ovarian cyst, bicornuate uterus and a vaginal fibroma. Skin lesions on the right shin were identified as necrobiosis lipoidica. Laboratory tests showed high urine pH and periodic electrolyte disturbances such as hypokalemia. Differential diagnosis that includes monogenic forms of diabetes may lead to optimization of treatment and more accurate evaluation of prognosis for patients and their family members.
Angina symptoms in patients after minimally invasive endoscopic atraumatic coronary artery bypassing - A long-term follow-up [Nasilenie dolegliwości dławicowych u chorych po operacji małoinwazyjnego endoskopowego atraumatycznego pomostowania wieńcowego (EACAB) - Obserwacja odległa]
Krzych L.J.,I Katedra i Klinika Kardiochirurgii |
Niemiec M.,Studenckie Kolo Naukowe Przy |
Joniec M.,Studenckie Kolo Naukowe Przy |
Mustafa S.,Studenckie Kolo Naukowe Przy |
And 5 more authors.
Polski Przeglad Kardiologiczny | Year: 2012
Introduction: The assessment of intensity of angina symptoms with the use of a 5-degree scale by the Canadian Cardiac Society (CCS) allows to monitor the natural course and effectiveness of treatment of ischemic heart disease, also in cardiac surgery. Such a subjective analysis takes into account the patient's comfort because the presence of chest pain determinates the quality of life. A minimally invasive surgical method of coronary revascularization with endoscopic atraumatic harvesting of mammary artery should contribute to minimizing angina pain in subjects, thus improving patient's comfort. Aim of the study: The aim of the study was the assessment of angina symptoms according to CCS classification in patients after endoscopic atraumatic coronary artery bypassing (EACAB) over an observation period of 12 years. Analysis of both the influence of co-morbidities and the presence of post-operative adverse cardiovascular events on the CCS classes during the follow-up was also of interest. Material and methods: The analysis included 706 patients with single vessel (76.5%) and multiple vessel (23.5%) coronary artery disease, who underwent EACAB between April 1998 and December 2010. Complete data has been obtained from 415 patients (74 females and 341 males) aged on average 59±6 years. Intensity of angina symptoms by CCS was compared in sub-groups defined by gender, age, presence of diabetes, history of myocardial infarction before surgery and baseline ejection fraction. The potential risk factors of angina intensity in a follow-up were: myocardial infarction, stroke or TIA, and the need of repeated revascularization. Results: The average intensity of angina by CCS was statistically significantly higher before EACAB compared to the post-operative period (2.01±0.38 vs 0.82±1.23 respectively, p<0.001). Regardless of baseline CCS class, 60% of subjects declared no angina pain in the follow-up. Amongst demographic features, only gender was an important determinant of angina intensity in the follow-up; females had higher CCS class than males (p=0.05). In a prospective observation, the patients requiring re-hospitalization (regardless of its aim) (p<0.001), having myocardial infarction post-operatively (p<0.001) or requiring repeated coronary revascularization (p<0.001) had more pronounced angina symptoms according to CCS class. Conclusions: The intensity of angina pectoris 7 years after EACAB was found to be significantly lower compared to pre-operative values. The most important factors influencing the increase in symptoms during the follow-up were as follows: female gender, re-hospitalization, myocardial infarction after EACAB and the need of repeated revascularization. Copyright © 2012 Cornetis.
Baczyk I.,Klinika Gastroenterologii Dzieciecej i Chorob Metabolicznych |
Sawicka N.,Studenckie Kolo Naukowe przy |
Gutaj P.,Studenckie Kolo Naukowe przy |
Dzikowska K.,Studenckie Kolo Naukowe przy |
And 4 more authors.
Pediatria Wspolczesna | Year: 2010
Introduction: Eating habits are formed early in life. Dietary mistakes in childhood tend to track into adulthood. Balanced nutrition promotes proper growth and development of children. Dietary mistakes increase the risk of chronic civilization diseases. Aim of the study: The aim of the study was to analyze and estimate the eating behavior of children aged 10-12 years. Material and methods: Food consumption patterns were estimated in a group of 155 children aged 10-12 years (69; 45% boys; 86; 55% girls). The research was carried out in January and February 2008. The socioeconomic and anthropometric data were collected in questionnaires. The eating behavior was evaluated using a 7-day dietary recall reported by the parents of the children. Data were analyzed using a computer program "Dietetyk 2". The daily dietary nutrients intake was compared with the recommendations of National Food and Nutrition Institute. The statistical analysis was done using MS Excel and GraphPad Instat 3. P <0.05 was defined as significant. Results: The diet of the investigated group covered the energy requirement (boys 2001 kcal, girls 1859 kcal, p=0.08). There was found too big amount of fat (both boys and girls 36% of total energy intake) and sucrose in the diet (boys 23% of consumed carbohydrates, girls 25% of consumed carbohydrates). There were established also many qualitative abnormalities. The mean daily intake of cholesterol of boys was 281 mg and of girls was 258 mg (p=0.15) but 39% of boys and 27% of girls exceeded 300 mg/24 h. The mean daily intake of fiber in each boys and girls group was about 0.4 g/kg of body weight. The ratio of daily intake of calcium to daily intake of phosphorus was for boys 0.62 and for girls 0.66. Diet of more than a half of boys and girls did not cover the recommended daily intake of vitamins: A, D, E, C, B 1, B 2, PP, B 6 and mineral components: iron, calcium, magnesium, zinc. Conclusions: 1. The diet of the analyzed group of children aged 10-12 years covers the energy requirement but it presents many qualitative abnormalities. 2. The common dietary mistakes in the analyzed group include fiber, vitamins and mineral components insufficiencies. There was observed excessive dietary intake of cholesterol, sucrose, sodium, phosphorus. 3. The dietary habits of the analyzed group of children increase the risk of the civilization diseases. The analyzed dietary behavior requires prevention like healthy diet promotion, education of parents and children. © 2010 Almamedia Press.