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BACKGROUND: Primary lactose intolerance (PLI) is characterized by the inability to digest lactose. Homozygotes for the lactase gene polymorphisms (CC or GG) are considered to be genetically predisposed to PLI. Still, symptoms may only be present later in life. The evidence supporting a link between PLI, dairy intake, and quality of life (QoL) is limited in children. AIM: This study investigates the link between LCT polymorphisms and suggestive symptoms and the influence of the genetic predisposition to PLI on dairy intake and QoL in Romanian children. MATERIALS AND METHODS: We recruited consecutive children evaluated in our ambulatory clinic. We asked all participants to complete a visual-analog symptoms scale, a dairy intake, and a QoL questionnaire. We used strip genotyping to identify genetic predisposition to PLI. RESULTS: 51.7% of children had a CC genotype, and 34.5% also had a GG genotype. Most children reported no or mild symptoms. Dairy intake and QoL were similar across study groups. CONCLUSIONS: Our study shows that genetic predisposition does not necessarily assume the presence of specific symptoms. Genetic predisposition to PLI did not lead to dairy avoidance, nor did it negatively influence our children's QoL.
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OBJECTIVE: Epidural hematoma (EDH) has rarely been studied specifically in infants. The objective of this study was to investigate the outcomes of patients aged < 18 months (infants) with EDH. METHODS: The authors conducted a single-center retrospective study of 48 infants aged less than 18 months who underwent an operation for a supratentorial EDH in the last decade. Clinical, radiological, and biological variables were used in a statistical analysis to identify factors predictive of radiological and clinical outcome. RESULTS: Forty-seven patients were included in the final analysis. Seventeen children (36%) had cerebral ischemia on postoperative imaging, either due to stroke (cerebral herniation) or by local compression. Factors associated with ischemia after multivariate logistic regression were the presence of an initial neurological deficit (76% vs 27%, p = 0.03), low platelet count (mean 192 vs 267 per mm3, p = 0.01), low fibrinogen level (mean 1.4 vs 2.2 g/L, p = 0.04) and long intubation time (mean 65.7 vs 10.1 hours, p = 0.03). Cerebral ischemia on MRI was predictive of a poor clinical outcome. CONCLUSIONS: Infants with EDH have a low mortality rate but a high risk of cerebral ischemia, along with long-term neurological sequelae.
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Primary lactose intolerance is caused by a genetically programmed loss in lactase production after 5-6 years of age. Milk and dairy products are often incriminated as a cause of gastrointestinal symptoms. Recent studies show that lactase persistence in adult life correlates with higher anthropometric indexes and an altered metabolic profile. We aimed to assess whether the presence of gene polymorphisms for primary lactose intolerance has an influence on the anthropometric and metabolic profile of children. We conducted a cross-sectional study, recruiting consecutive children evaluated at the 2nd Pediatric Clinic, Timisoara from May to August 2016. We enrolled 87 children aged 6-17 years [mean age 10.64±3.51 years; 45 (51.72%) girls]. Subjects were asked to complete an analogue visual scale of symptoms. We measured weight, height, blood pressure and calculated body mass index. The metabolic profile included fasting blood glucose, triglycerides and HDL cholesterol levels. We used strip genotyping to identify gene polymorphisms for primary lactose intolerance. According to the results, our study population was grouped into lactose tolerant (n=42) and lactose intolerant (n=45) groups. No differences were found in regards to weight, height, body mass index and blood pressure between the two study groups. Glucose, triglycerides and HDL cholesterol were similar in the lactose intolerant and lactose tolerant children. The presence of gene polymorphisms for primary lactose intolerance did not influence the children's anthropometric and metabolic profile.
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OBJECTIVE: The aim of this study was to evaluate the connection between pancreatic cancer (PC) and genetic variants associated with chronic pancreatitis via systematic review and meta-analysis. METHODS: The data search was performed in 3 major databases (PubMed, Embase, and Cochrane Library). The selected studies have looked into the presence of the pancreatitis-associated genes in patients with PC and in control subjects, the outcome being the frequency of the mutations in the 2 groups. For the binary outcomes, pooled odds ratio (OR) and 95% confidence interval (CI) were calculated. RESULTS: Ten articles proved to be eligible for the qualitative synthesis, and 8 articles were suitable for statistical analysis. Six case-control studies, comprising 929 PC cases and 1890 control subjects for serine protease inhibitor Kazal type 1 (SPINK1) mutations, and 5 case-control studies, comprising 1674 PC cases and 19,036 control subjects for CFTR mutations, were enrolled in our analysis. SPINK1 mutations showed no association with PC (OR, 1.52; 95% CI, 0.67-3.45; P = 0.315), whereas mutations in CFTR modestly increased the risk of PC (OR, 1.41; 95% CI, 1.07-1.84; P = 0.013). CONCLUSION: Our meta-analysis showed that mutations in CFTR modestly increase the risk of PC, whereas no association was found between SPINK1 and PC.
