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1.
Acta Clin Croat ; 58(2): 240-248, 2019 Jun.
Artigo em Inglês | MEDLINE | ID: mdl-31819319

RESUMO

Gastrointestinal tract is an important connector between food intake and body weight, it senses basic tastes in a similar manner as the tongue. The aim of the study was to find out how gut hormone glucagon-like peptide-1 (GLP-1) influences taste preference. Fourteen healthy participants (six male and eight female) were included in this double-blind, placebo-controlled crossover study. After overnight fast and salty fluid (oral sodium load), participants were randomized to receive placebo (500 mL of 0.9% saline) or GLP-1 infusion (1.5 pmol/kg/min) over a 3-hour period. At the end of infusion, participants chose food preferences from illustrations of food types representing 5 tastes. After 7 days, the protocol was repeated, this time those that had received placebo first got GLP-1 infusion, and those having received GLP-1 first got placebo. Change of taste preference after GLP-1 infusion but not after placebo was reported as response, and non-response was reported in case of taste persistence. A statistically significant difference in response type was found between genders, with women being more likely to change their taste preference after GLP-1 than men. The change of taste upon GLP-1 infusion observed in women might be ascribed to estrogen weight-lowering effects accomplished by receptor-mediated delivery.


Assuntos
Preferências Alimentares/fisiologia , Peptídeo 1 Semelhante ao Glucagon/sangue , Percepção Gustatória/fisiologia , Paladar/fisiologia , Adulto , Estudos Cross-Over , Método Duplo-Cego , Feminino , Humanos , Masculino , Pessoa de Meia-Idade , Fatores Sexuais
2.
Clin Mass Spectrom ; 12: 1-6, 2019 Apr.
Artigo em Inglês | MEDLINE | ID: mdl-34841073

RESUMO

Tyrosinemia type 1 is an autosomal recessive aminoacidopathy caused by fumarylacetoacetate hydrolase (FAH) deficiency. Consequently, tyrosine and its metabolites accumulate, resulting in liver and kidney toxicity. Symptoms of the disease usually manifest after three weeks of life and include vomiting, failure to thrive, hepatomegaly, jaundice, bleeding diathesis, rickets and renal tubular dysfunction. Untreated, the disease eventually progresses to liver or kidney failure and generally results in a fatal outcome. Expedient diagnosis is critical because an early start of treatment can increase the likelihood of a positive outcome. Here, we report on a male newborn with a family history positive for tyrosinemia type 1 who was subjected to a metabolic work-up immediately after birth. Amino acids were quantified by tandem mass spectrometry coupled with ultra performance liquid chromatography. Urinary organic acids were analyzed on capillary gas chromatography coupled with mass spectrometry. DNA analysis of the FAH gene was performed by Sanger sequencing. On the first day of life, the patient's plasma amino acids showed an increased tyrosine concentration, while urine organic acids detected succinylacetone, a tyrosine metabolite specific for tyrosinemia type 1. The patient's DNA analysis revealed homozygosity of the c.554-1G > T mutation in the FAH gene, which was consistent with the diagnosis. Nitisinone treatment, combined with a dietary restriction of tyrosine and phenylalanine, was introduced immediately. Regular visits and measurement of amino acid concentrations, which enables therapy adjustment and treatment efficiency monitoring in patients with tyrosinemia type 1, has continued over the past 4+ years, and is expected to continue.

3.
Biochem Med (Zagreb) ; 28(3): 030801, 2018 Oct 15.
Artigo em Inglês | MEDLINE | ID: mdl-30429681

RESUMO

Gyrate atrophy (GA) of the choroid and retina is a rare autosomal recessive disorder that occurs due to deficiency of the mitochondrial enzyme ornithine aminotransferase (OAT). Hyperornithinemia causes degeneration of the retina with symptoms like myopia, reduced night vision and progressive vision loss. Our patient is a 10-year-old girl with impaired vision and strabismus. As part of the metabolic work-up, plasma amino acid analysis revealed significantly increased concentration of ornithine (1039 µmol/L; reference interval 20 - 155 µmol/L). Molecular genetic analysis revealed homozygous mutation in exon 7 of the OAT gene that has not been reported previously (c.868_870delCTT p.(Leu290del)). This in frame deletion was predicted to be deleterious by in silico software analysis. Our patient was treated with pyridoxine (vitamin B6 in a dose of 2 x 100 mg/day), low-protein diet (0.6 g/kg/day) and L-lysine supplementation which resulted in a significant reduction in plasma ornithine concentrations to 53% of the initial concentration and the ophthalmologic findings showed significant improvement. We conclude that low protein diet and lysine supplementation can lead to long-term reduction in plasma ornithine concentrations and, if started at an early age, notably slow the progression of retinal function loss in patients with GA. The effect of therapy can be reliably monitored by periodical measurement of plasma ornithine concentration. To our knowledge, this is the first report of OAT deficiency in Croatia.


Assuntos
Atrofia Girata/genética , Mutação , Ornitina-Oxo-Ácido Transaminase/genética , Contagem de Células Sanguíneas , Criança , Croácia , Feminino , Angiofluoresceinografia , Seguimentos , Atrofia Girata/sangue , Atrofia Girata/diagnóstico por imagem , Atrofia Girata/enzimologia , Humanos , Tomografia de Coerência Óptica
4.
Nutrients ; 10(9)2018 Sep 10.
Artigo em Inglês | MEDLINE | ID: mdl-30201901

RESUMO

Although the role of vitamin D is well known, the possibility of assessing its intake may be constricted in countries with no vitamin D data in food composition tables, as in the case of Croatia. The aim of the presented study was to adjust the VIDEO-FFQ (Vitamin D Estimation Only-Food Frequency Questionnaire), previously validated in Poland, to the Croatian population and to assess the validity and reproducibility of the adjusted Cro-VIDEO-FFQ (Croatian-VIDEO-FFQ). The study involved a group of Croatian women aged 20⁻30 and the Polish questionnaire was adjusted for a population due to similarities of the nutritional habits between countries. 106 individuals were recruited and 63 completed all the stages of the study. Participants conducted a 3-day dietary record and filled out the Cro-VIDEO-FFQ1 (first stage), as well as the same questionnaire (Cro-VIDEO-FFQ2) 6 weeks after (second stage). The following vitamin D intakes were observed in the studied group: 1.9 µg (0.2⁻8.0 µg) for 3-day dietary record, 3.3 µg (1.1⁻10.6 µg) for Cro-VIDEO-FFQ1, 3.6 µg (1.4⁻7.8 µg) for Cro-VIDEO-FFQ2. The Bland-Altman indexes in assessment of validity and reproducibility were 4.8% and 6.3%, respectively, with mean differences of 0.55 µg and 0.12 µg, as well as limits of agreement -0.91⁻2.01 µg and -0.44⁻0.69 µg. The kappa coefficient indicated a fair agreement for validity (0.21) and substantial for reproducibility (0.62), while correlations were significant (p = 0.0027, r = 0.37 for validity; p < 0.0001, r = 0.80 for reproducibility). It was observed that VIDEO-FFQ may be adjusted as a simple tool to assess vitamin D intake in a population with no vitamin D data in food composition tables, while Cro-VIDEO-FFQ may be a valid tool for nutritional assessment in Croatia.


Assuntos
Registros de Dieta , Inquéritos sobre Dietas/normas , Avaliação Nutricional , Inquéritos e Questionários/normas , Vitamina D/análise , Adulto , Croácia , Inquéritos sobre Dietas/métodos , Feminino , Humanos , Idioma , Estado Nutricional , Reprodutibilidade dos Testes , Adulto Jovem
5.
Minerva Endocrinol ; 43(1): 27-33, 2018 Mar.
Artigo em Inglês | MEDLINE | ID: mdl-28146141

RESUMO

BACKGROUND: The transition for type 1 diabetes patients from pediatric to adult diabetology care is challenging process for both medical team and patients. Adult diabetology usually insists on stricter goals and focuses on increased empowerment and self-care. We set to find a more practical and effective way to determine patient knowledge and skills during the transition. The aim of the study was to identify screening questions which best represent knowledge in management of type 1 diabetes and to explore the differences in the effect of a structured educational program for type 1 diabetes patient diagnosed in childhood versus adulthood. METHODS: It was an observational study exploring effect of a structured educational program for 39 participants diagnosed with type 1 diabetes in childhood (group 1) vs. 20 patients diagnosed in adulthood (group 2). Main outcome measures were A1C and knowledge questionnaire results change before and after education. RESULTS: The effect of education was equal in both groups, with higher basal level of knowledge in group 1. There was a significant correlation between questions regarding carbohydrate counting and A1C after 3 and 6-12 months in group 1. We found that questions regarding carbohydrate counting may predict glycemic control and represent general knowledge. CONCLUSIONS: Carbohydrate counting is crucial in predicting glycemic control and representing general knowledge about diabetes. Patients diagnosed in childhood may be more knowledgeable in diabetes management, but their practical skill in matching insulin dose and carbohydrate content is poor. Both groups improved their knowledge in similar proportion with same educational program.


Assuntos
Diabetes Mellitus Tipo 1/terapia , Educação de Pacientes como Assunto , Adolescente , Adulto , Idoso , Envelhecimento , Criança , Pré-Escolar , Diabetes Mellitus Tipo 1/dietoterapia , Diabetes Mellitus Tipo 1/tratamento farmacológico , Feminino , Conhecimentos, Atitudes e Prática em Saúde , Humanos , Lactente , Masculino , Pessoa de Meia-Idade , Poder Psicológico , Autocuidado , Adulto Jovem
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