ABSTRACT
In this paper, we report autopsy findings of a 1-day old full-term mature female neonate with pulmonary hypoplasia diagnosed postnatally. Death was attributed to acute respiratory failure due to hyaline membrane disease. We describe pathological features of calcified Meckels diverticulum with osseous metaplasia and inflammatory changes in adjacent peritoneum. As far as we know, this case report documents the youngest patient ever diagnosed with calcified Meckels diverticulum with osseous metaplasia.
Subject(s)
Meckel Diverticulum , Autopsy , Female , Humans , Infant, Newborn , Meckel Diverticulum/complications , MetaplasiaABSTRACT
BACKGROUND: Inactivating mutations of the hypothalamic transcription factor singleminded1 (SIM1) have been shown as a cause of early-onset severe obesity. However, to date, the contribution of SIM1 mutations to the obesity phenotype has only been studied in a few populations. In this study, we screened the functional regions of SIM1 in severely obese children of Slovak and Moravian descent to determine if genetic variants within SIM1 may influence the development of obesity in these populations. METHODS: The SIM1 promoter region, exons and exon-intron boundaries were sequenced in 126 unrelated obese children and adolescents (2-18 years of age) and 41 adult lean controls of Slovak and Moravian origin. Inclusion criteria for the children and adolescents were a body mass index standard deviation score higher than 2 SD for an appropriate age and sex, and obesity onset at less than 5 years of age. The clinical phenotypes of the SIM1 variant carriers were compared with clinical phenotypes of 4 MC4R variant carriers and with 27 unrelated SIM1 and MC4R mutation negative obese controls that were matched for age and gender. RESULTS: Seven previously described SIM1 variants and one novel heterozygous variant p.D134N were identified. The novel variant was predicted to be pathogenic by 7 in silico software analyses and is located at a highly conserved position of the SIM1 protein. The p.D134N variant was found in an 18 year old female proband (BMI 44.2kg/m2; +7.5 SD), and in 3 obese family members. Regardless of early onset severe obesity, the proband and her brother (age 16 years) did not fulfill the criteria of metabolic syndrome. Moreover, the variant carriers had significantly lower preferences for high sugar (p = 0.02) and low fat, low carbohydrate, high protein (p = 0.02) foods compared to the obese controls. CONCLUSIONS: We have identified a novel SIM1 variant, p.D134N, in 4 obese individuals from a single pedigree which is also associated with lower preference for certain foods.
Subject(s)
Basic Helix-Loop-Helix Transcription Factors/genetics , Obesity/genetics , Repressor Proteins/genetics , Adolescent , Age of Onset , Calorimetry, Indirect , Case-Control Studies , Child , Child, Preschool , Czech Republic/ethnology , Female , Food Preferences , Genetic Carrier Screening , Humans , Male , Mutation , Obesity/ethnology , Pedigree , Phenotype , Receptor, Melanocortin, Type 4/genetics , Severity of Illness Index , Slovakia/ethnologyABSTRACT
BACKGROUND: Obesity and overweight are major contributors to the global burden of chronic diseases and disability in both majority and minority populations. METHODS: Data from the cross-sectional population-based HepaMeta study conducted in Slovakia in 2011 were used. The sample comprised a total of 452 Roma. Measurements of special bioactive mediators were taken in final groups consisting of 63 male Roma respondents (mean age = 32.59; SD = 8.63) and 117 female Roma respondents (mean age = 34.55; SD = 8.35). Respondents were divided into three groups: those with normal weight, those with overweight and obese. Values for anthropometric parameters, lipids parameters, C-reactive protein, TNF-alpha, IL-6, leptin, and adiponectin were determined. RESULTS: 27.6% of examined Roma females and 26.9% of males were overweight. Obesity (BMI > 30.0 kg/m2) appeared in a higher proportion of males (28.8%) compared with female (26.5%). Mean levels of total cholesterol, triacylglycerol and LDL-cholesterol were significantly elevated in the overweight and obese subjects compared to normal-weight Roma respondents. The relation was reversed for HDL-C level, with significantly decreased levels in both male and female obese Roma (p < 0.001). The concentration of adiponectin was significantly lower in obese subjects of both genders versus non-obese (Roma male p < 0.001, Roma female p < 0.05). Plasma levels of leptin, IL-6, hs-CRP as well as TNF-alpha increased in Roma significantly with increasing BMI. CONCLUSION: The study is the first one to provide data about selected biomarkers. Results may be useful in predicting obesity and its related diseases in the Roma population from the eastern part of Slovakia.
