Kazuistika popisuje případ 17leté dívky opakovaně vyšetřované pro dlouhodobé bolesti břicha. Její potíže splňovaly kritéria pro funkční zácpu dle IV. revize Římské klasifikace, a proto jí bylo doporučeno užívání osmotických laxativ, režimová opatření a rehabilitace. Tato terapie však neměla dostatečný efekt. Pro přetrvávání potíží a progresi bolestí břicha při defekaci bylo doplněno proktologické vyšetření. To odhalilo možnou příčinu obtíží pacientky, a to anus ventralis - vrozenou anomálii řazenou ke skupině anorektálních malformací. Anus ventralis je stav, při kterém se na hrázi nachází anální otvor normálního vzhledu, ovšem v různé míře dislokovaný ventrálním směrem. Tento posun může být velmi mírný, a unikat tak odhalení, jak tomu bylo přes opakovaná vyšetření i v případě naší pacientky. Obvyklou manifestací této anomálie je nástup obstipace brzy po porodu, nicméně k rozvoji chronických potíží může dojít i později. Operace v tomto případě přinesla jejich řešení. Cílem sdělení je rozšířit povědomí o této méně obvyklé, avšak nikoli vzácné, organické příčině zácpy a seznámit čtenáře s možnostmi její diagnostiky a terapie.

We describe the case of a 17year old girl who was repeatedly examined for chronic abdominal pain. Her symptoms met the Rome IV. criteria for functional obstipation and therefore she was recommended the use of osmotic laxatives, régime measures and physiotherapy. However, this therapy brought insufficient effect. For ongoing symptomatology, further diagnostic steps were performed including proctological examination by which anus ventralis was diagnosed. This anorectal malformation represents a condition in which the anal orifice of a normal appearance is shifted in the ventral direction. Clinical symptoms depend on the level of the anal orifice shift. The usual manifestation of this anomaly is the onset of obstipation soon after birth, but if only slight shift is present, chronic problems may develop over time. Surgical reconstruction brought permanent improvement of the symptoms. The aim of this case report is to raise awareness of this less common, but not rare, organic cause of chronic obstipation and to describe its therapeutic and diagnostic modalities.

• Klíčová slova
• anus ventralis,
• MeSH
• anální kanál chirurgie   MeSH
• anorektální malformace * chirurgie   diagnóza   MeSH
• bolesti břicha etiologie   MeSH
• lidé MeSH
• mladiství MeSH
• píštěle trávicího systému MeSH
• rektum chirurgie   MeSH
• výsledek terapie MeSH
• zácpa etiologie   MeSH
• Check Tag
• lidé MeSH
• mladiství MeSH
• ženské pohlaví MeSH
• Publikační typ
• kazuistiky MeSH
• práce podpořená grantem MeSH

• MeSH
• infekce bakteriemi řádu Actinomycetales MeSH
• kojenec MeSH
• lidé MeSH
• zubní plak * patologie   MeSH
• zuby mléčné patologie   MeSH
• Check Tag
• kojenec MeSH
• lidé MeSH
• mužské pohlaví MeSH
• Publikační typ
• kazuistiky MeSH

Publikace informuje o dějinách a současnosti Endokrinologického ústavu v Praze. Určeno odborné i široké veřejnosti.

• Klíčová slova
• Praha (Česko),
• MeSH
• akademie a ústavy dějiny   MeSH
• dějiny 20. století MeSH
• dějiny 21. století MeSH
• endokrinologie dějiny   MeSH
• nemocniční oddělení MeSH
• Check Tag
• dějiny 20. století MeSH
• dějiny 21. století MeSH
• Publikační typ
• populární práce MeSH
• Geografické názvy
• Česká republika MeSH
• Československo MeSH

• Konspekt
• Veřejné zdraví a hygiena
• NLK Obory
• endokrinologie
• veřejné zdravotnictví
• dějiny lékařství
• NLK Publikační typ
• informační publikace

• O autorovi
• Endokrinologický ústav Autorita

• Publikační typ
• abstrakt z konference MeSH

Both, common gene variants and human adenovirus 36 (Adv36) are involved in the pathogenesis of obesity. The potential relationship between these two pathogenic factors has not yet been investigated. The aim of our study was to examine the association of obesity susceptibility loci with Adv36 status. Genotyping of ten gene variants (in/near TMEM18, SH2B1, KCTD15, PCSK1, BDNF, SEC16B, MC4R, FTO) and analysis of Adv36 antibodies was performed in 1,027 Czech adolescents aged 13.0-17.9 years. Variants of two genes (PCSK1 and BDNF) were associated with Adv36 seropositivity. A higher prevalence of Adv36 antibody positivity was observed in obesity risk allele carriers of PCSK1 rs6232, rs6235 and BDNF rs4923461 vs. non-carriers (chi(2)=6.59, p=0.010; chi(2)=7.56, p=0.023 and chi(2)=6.84, p=0.033, respectively). The increased risk of Adv36 positivity was also found in PCSK1 variants: rs6232 (OR=1.67, 95 % CI 1.11-2.49, p=0.016) and rs6235 (OR=1.34, 95 % CI 1.08-1.67, p=0.010). PCSK1 rs6232 and BDNF rs925946 variants were closely associated with Adv36 status in boys and girls, respectively (chi(2)=5.09, p=0.024; chi(2)=7.29, p=0.026). Furthermore, PCSK1 rs6235 risk allele was related to Adv36 seropositivity (chi(2)=6.85, p=0.033) in overweight/obese subgroup. In conclusion, our results suggest that obesity risk variants of PCSK1 and BDNF genes may be related to Adv36 infection.

• MeSH
• Adenoviridae genetika   MeSH
• adenovirové infekce lidí epidemiologie   genetika   MeSH
• genetická variace genetika   MeSH
• genetické asociační studie metody   MeSH
• lidé MeSH
• mladiství MeSH
• mozkový neurotrofický faktor genetika   MeSH
• obezita epidemiologie   genetika   MeSH
• proproteinkonvertasa 1 genetika   MeSH
• Check Tag
• lidé MeSH
• mladiství MeSH
• mužské pohlaví MeSH
• ženské pohlaví MeSH
• Publikační typ
• časopisecké články MeSH
• práce podpořená grantem MeSH

Obesity in childhood increases the risk of obesity in adulthood and is predictive for the development of metabolic disorders. The fatty acid composition is associated with obesity and obesity-associated disorders. We investigated the relationship between serum fatty acids composition, adiposity, lipids profile, parameters of glucose metabolism and leptin. The study subjects were 380 adolescents aged 15.0-17.9 years. The study's variables included anthropometric measurements, levels of serum lipids and hormonal parameters. Individual fatty acids were determined in plasma by gas-liquid chromatography. Palmitoleic acid (16:1n-7, PA) significantly positively correlated with percentage of body fat. Saturated fatty acids in phospholipids (PL) positively correlated with BMI and percentage of body fat. PA content in all lipids classes positively correlated with total cholesterol (TC), HDL cholesterol, triglycerides (TG) levels. Stearoyl-CoA desaturase (SCD) activity positively correlated with percentage of body fat and positive correlations of SCD and PA level with leptin were found. Plasma PA content and SCD are associated with adiposity and leptin in obese adolescents. No significant correlation between PA level and insulin resistance was found. Palmitoleate positively correlated with TC, HDL cholesterol, TG and LDL cholesterol levels.

• MeSH
• adipozita fyziologie   MeSH
• HDL-cholesterol krev   MeSH
• LDL-cholesterol krev   MeSH
• lidé MeSH
• mastné kyseliny krev   MeSH
• metabolom fyziologie   MeSH
• mladiství MeSH
• triglyceridy krev   MeSH
• Check Tag
• lidé MeSH
• mladiství MeSH
• mužské pohlaví MeSH
• ženské pohlaví MeSH
• Publikační typ
• časopisecké články MeSH
• práce podpořená grantem MeSH
• Geografické názvy
• Česká republika MeSH

Bariatric surgery is the most effective method in the treatment of obesity and type 2 diabetes (T2DM). The aim of this study was to evaluate the effects of different types of bariatric procedures on remission of T2DM and on the fatty acid composition in subcutaneous adipose tissue. Patients included obese diabetic women who underwent bariatric surgery: biliopancreatic diversion (BPD), n=8, laparoscopic gastric banding (LAGB), n=9 or laparoscopic greater curvature plication (LGCP), n=12. Anthropometric characteristics and fatty acid composition of adipose tissue (FA AT) were analyzed before surgery, then 6 months and 2 years after surgery. FA AT was analyzed by gas chromatography. Diabetes remission was estimated. BPD was most efficient in inducing a remission of diabetes (p=0.004). Significantly higher increases in lauric (12:0), myristoleic (14:1n-5) and palmitoleic (16:1n-7) acids and delta-9 desaturase were found two years after BPD, suggesting higher lipogenesis in adipose tissue. Docosatetraenoic acid (22:4n-6) increased significantly after BPD, while docosapentaenoic acid (22:5n-3) decreased 6 months after BPD and increased after 2 years. No changes were found after LAGB and LGCP after 2 years. Bariatric surgery led to significant changes in the fatty acid composition of subcutaneous adipose tissue in severely obese diabetic women after six months and two years, and was partly influenced by the type of surgery used.

• MeSH
• bariatrická chirurgie trendy   MeSH
• diabetes mellitus 2. typu krev   epidemiologie   chirurgie   MeSH
• dospělí MeSH
• lidé středního věku MeSH
• lidé MeSH
• mastné kyseliny krev   MeSH
• morbidní obezita krev   epidemiologie   chirurgie   MeSH
• následné studie MeSH
• senioři MeSH
• triglyceridy krev   MeSH
• tuková tkáň metabolismus   MeSH
• Check Tag
• dospělí MeSH
• lidé středního věku MeSH
• lidé MeSH
• senioři MeSH
• ženské pohlaví MeSH
• Publikační typ
• časopisecké články MeSH
• práce podpořená grantem MeSH

The local concentration of glucocorticoids is intensively regulated by 11beta-hydroxysteroid dehydrogenase type 1 (11beta-HSD 1). Human 11beta-HSD 1 also reversibly catalyzes the inter-conversion of 7alpha-hydroxy- and 7beta-hydroxy-dehydroepiandrosterone (DHEA) into 7-oxo-DHEA. The cohort of 282 obese adolescents, 154 girls (median age 15.31 years, range 14.17-16.68 years) and 128 boys (median age 14.95 years, range 13.87-16.16 years), BMI (Body Mass Index) >90th percentile was examined. In samples collected before and after one month of reductive diet therapy, circulating levels of steroids were analyzed by liquid chromatography-tandem mass spectrometry and radioimmunoassay methods. The model of the treatment efficacy prediction was calculated. A significant reduction in circulating levels of cortisone, E2 and increased levels of 7beta-hydroxy-DHEA after the reductive treatment was observed. Levels of cortisol, DHEA, DHT sustained without any significant change. The predictive Orthogonal Projections to Latent Structures (OPLS) model explained 20.1 % of variability of BMI, z-score change by the basal levels of 7alpha-hydroxy-DHEA, DHEA, cortisol and E2 as the strongest predictors. Reduced levels of circulating cortisone and reduced ratios of oxygenated/reduced metabolites reflect increased reductase activity of 11beta-HSD 1 with reduced BMI, z-score. We hypothesize whether these changes can be attributed to the altered activity of 11beta-HSD 1 in the liver.

• MeSH
• 11-beta-hydroxysteroiddehydrogenasa typ 1 krev   MeSH
• biologické markery krev   MeSH
• dehydroepiandrosteron krev   MeSH
• játra metabolismus   MeSH
• kohortové studie MeSH
• lidé MeSH
• mladiství MeSH
• obezita krev   terapie   MeSH
• redukční dieta trendy   MeSH
• výsledek terapie MeSH
• Check Tag
• lidé MeSH
• mladiství MeSH
• mužské pohlaví MeSH
• ženské pohlaví MeSH
• Publikační typ
• časopisecké články MeSH
• práce podpořená grantem MeSH

Human adenovirus 36 (Adv36) increases adiposity and is more prevalent in overweight and obese children. Dietary intake in animal models is comparable regardless of Adv36 status. The effects of Adv36 on obesity treatment outcomes have not been clarified. The aim of this study is to investigate the pre-treatment dietary intake and the response to a 4-week inpatient weight management in 184 obese adolescent girls aged 13.0-17.9 years with respect to the presence of Adv36 antibodies. Evaluation of 3-day dietary records did not show any difference in daily intake of energy and essential nutrients between Adv36 antibody positive and negative girls. After the intervention Adv36 positive girls presented with significantly greater decrease of waist circumference (P=0.020), z-score of waist circumference (P=0.024), waist-to-hip ratio (P=0.007) and weight-to-height ratio (P=0.019) compared with Adv36 negative girls. On the contrary, the sum of four skinfolds decreased significantly more in Adv36 negative than in Adv36 positive individuals (P=0.013). Neither body fat percentage nor metabolic and hormonal parameters showed any significant relevance to Adv36 status in response to weight loss intervention. In conclusion, energy restriction in Adv36 antibody positive girls was associated with greater decrease of abdominal obesity and preservation of subcutaneous fat tissue than in those antibody negative.

• MeSH
• adenovirové infekce lidí epidemiologie   etiologie   imunologie   MeSH
• biologické markery krev   MeSH
• dietní záznamy MeSH
• hospitalizovaní pacienti MeSH
• lidé MeSH
• lidské adenoviry imunologie   fyziologie   MeSH
• mladiství MeSH
• náchylnost k nemoci MeSH
• obezita dětí a dospívajících komplikace   imunologie   virologie   MeSH
• poměr pasu a boků MeSH
• protilátky virové krev   MeSH
• rizikové faktory MeSH
• Check Tag
• lidé MeSH
• mladiství MeSH
• ženské pohlaví MeSH
• Publikační typ
• časopisecké články MeSH
• práce podpořená grantem MeSH
• Geografické názvy
• Česká republika MeSH

Specific targets for most obesity candidate genes discovered by genomewide association studies remain unknown. Such genes are often highly expressed in the hypothalamus, indicating their role in energy homeostasis. We aimed to evaluate the associations of selected gene variants with adiposity and dietary traits. Anthropometric parameters, fat mass, dietary intake (total energy, fat, protein, carbohydrate, fiber, and calcium) and 10 gene variants (in/near TMEM18, SH2B1, KCTD15, PCSK1, BDNF, SEC16B, MC4R and FTO) were analyzed in 1953 Czech individuals aged 10.0 to 18.0 years (1035 nonoverweight and 918 overweight: body mass index [BMI] ≥90th percentile). Obesity risk alleles of TMEM18 rs7561317, SEC16B rs10913469, and FTO rs9939609 were related to increased body weight and BMI (P < .005). The FTO variant also showed a significant positive association with waist circumference and fat mass (P < .001). Overweight adolescents had a lower total energy intake (P < .001) but a higher percentage of fat (P = .009) and protein intake (P < .001) than the nonoverweight subjects. There was also a lower calcium intake in the overweight group (P < .001). An association with at least one component of dietary intake was found in 3 of 10 studied gene variants. The MC4R rs17782313 was associated negatively with protein (P = .012) and positively associated with fiber (P = .032) intakes. The obesity risk alleles of BDNF rs925946 and FTO rs9939609 were related to a lower calcium intake (P = .001 and .037). The effects of FTO and MC4R variants, however, disappeared after corrections for multiple testing. Our results suggest that the common BDNF variant may influence dietary calcium intake independent of BMI.

• MeSH
• alely MeSH
• dítě MeSH
• energetický příjem * MeSH
• genotyp MeSH
• index tělesné hmotnosti * MeSH
• jednonukleotidový polymorfismus * MeSH
• lidé MeSH
• mladiství MeSH
• mozkový neurotrofický faktor genetika   MeSH
• nadváha MeSH
• obezita etiologie   genetika   MeSH
• receptor melanokortinový typ 4 genetika   MeSH
• stravovací zvyklosti * MeSH
• tělesná hmotnost MeSH
• vápník dietní aplikace a dávkování   MeSH
• Check Tag
• dítě MeSH
• lidé MeSH
• mladiství MeSH
• mužské pohlaví MeSH
• ženské pohlaví MeSH
• Publikační typ
• časopisecké články MeSH
• práce podpořená grantem MeSH
• Geografické názvy
• Česká republika MeSH