Expression of SCGB1C1 gene as a potential marker of susceptibility to upper respiratory tract infections in elite athletes - a pilot study.

High levels of exercise in athletes result in temporary immunosuppression, which could increase the susceptibility to upper respiratory tract infections. Understanding of immunological mechanisms responsible for this phenomenon could enable optimization of training schemes for elite athletes and avoidance of infection-related episodes of absence during sports championships. The aim of this study was to detect genes that may be responsible for modulation of individual susceptibility to infections. The blood and saliva samples were collected from 10 healthy, medically examined kayakers (4 females and 6 males) aged 24.7 ± 2.3 years. All samples were taken in the morning, after overnight fasting, in a seated position. The ELISA method was used to determine the levels of secretory immunoglobulin A (sIgA) and interleukin 5 (IL-5). Whole genome expression in blood was assessed using microarrays. The study did not reveal any significant correlation between genome expression and sIgA concentration. However, low expression of a gene involved in protection against the common cold - secretoglobin 1C1 (SCGB1C1) - was detected in athletes with high IL-5 concentrations (corrected p = 0.00065; fold change = 3.17). Our results suggest that blood expression of the SCGB1C1 gene might be a marker of susceptibility to upper respiratory tract infections in athletes.

Quality of life in noncompliant adults with phenylketonuria after resumption of the diet.

BACKGROUND: Discontinuation of dietary therapy in adults with phenylketonuria can lead to neuropsychological abnormalities and emotional problems. The aim of our study was to assess the change in quality of life in adult patients returning to the diet and to define the reasons for failure in diet resumption. METHODS: Quality of life was assessed by means of the Psychological General Well-Being Index before study entry and subsequently after 3 and 9 months. Reasons for failure in diet resumption were analysed. RESULTS: 53 patients participated in the study. Initial quality of life assessment revealed severe distress in 17%, moderate distress in 28% and positive well-being in 55% of them. In the majority of patients with severe or moderate distress, improvement of subjective well-being was observed (especially in the domains of anxiety and depressiveness) if they managed to return to the diet (blood phenylalanine concentrations before study entry 0.78-1.62 mmol/L, mean 1.16 mmol/L; average blood phenylalanine concentration decrease by 0.42 mmol/L). Only 29 persons managed to maintain the diet for at least 3 months and only 10 participants finished the entire 9-month study protocol. Problems with dietary treatment while at work, the high cost of low-protein products and poor knowledge regarding proper diet were the most important factors responsible for failure in resumption of diet. CONCLUSION: Interpersonal differences exist between adult patients on relaxed diet, in some of whom quality of life often remains good, while others can suffer from severe emotional distress. Returning to diet increases quality of life in the majority of patients.

[Inherited hyperammonemia]. / Wrodzona hiperamonemia.

Inherited hyperammonemia disorders are caused by specific enzymatic defects in the urea cycle or in metabolic pathways related to it. These disorders can be divided into the following groups: deficiencies of urea cycle enzymes, transport defects of dibasic amino acids, organic acidemias, defects in beta-oxidation of fatty acids, transient hyperammonemia of the newborn-probably a not genetically determined disorder. Manifestation of the mentioned disorders includes elevated serum ammonia level resulting in altered level of consciousness and/or persisted vomiting. Occurrence of irreversible neurologic sequelae depends mostly on the extent of hyperammonemic period. Differential diagnosis includes blood gas, anion gap, plasma amino acids analysis and urine organic acids analysis. In some cases specific tissue enzymes activity measurement is necessary. Dialysis, sodium benzoate, sodium phenylacetate and arginine are used in the treatment of acute hyperammonemia. In addition oral or rectal neomycin and/or lactulose can be used, which reduces intestinal ammonia production.

Use of handheld computers for assessment of prefrontal cortex function in patients with phenylketonuria.

Assessment of prefrontal brain cortex function can be helpful in treatment monitoring in patients with phenylketonuria. We aimed to assess the usefulness of computerized neuropsychological tests developed for handheld computers for this purpose. We observed worse test performance among persons with blood phenylalanine concentrations exceeding the recommended range. Use of handheld computers was assessed by patients and by doctors as interesting, not time-consuming and convenient. This method can be helpful during routine follow-up visits.