The Juvenile Arthritis Multidimensional Assessment Report (JAMAR) is a new parent/patient-reported outcome measure that enables a thorough assessment of the disease status in children with juvenile idiopathic arthritis (JIA). We report results of the cross-cultural adaptation and validation of the parent and patient versions of the JAMAR in the Czech language. The reading comprehension of the questionnaire was tested in ten JIA parents and patients. The participating centre was asked to collect demographic and clinical data along the JAMAR questionnaire in 100 consecutive JIA patients or all consecutive patients seen in a 6-month period and to administer the JAMAR to 100 healthy children and their parents. The statistical validation phase explored descriptive statistics and the psychometric issues of the JAMAR: the three Likert assumptions, floor/ceiling effects, internal consistency, Cronbach's alpha, interscale correlations, test-retest reliability, and construct validity (convergent and discriminant validity). A total of 103 JIA patients (5.8% systemic, 35.9% oligoarticular, 37.9% RF-negative polyarthritis, 20.4% other categories) and 100 healthy children, were enrolled. The JAMAR components discriminated well healthy subjects from JIA patients. Notably, there was no significant difference between healthy subjects and their affected peers in the school-related problems variable and in the Psychosocial Health of the Paediatric Rheumatology Quality of Life scale. All JAMAR components revealed good psychometric performances. In conclusion, the Czech version of the JAMAR is a valid tool for the assessment of children with JIA and is suitable for use both in routine clinical practice and clinical research.
- MeSH
- dítě MeSH
- hodnocení výsledků péče pacientem * MeSH
- juvenilní artritida diagnóza patofyziologie psychologie terapie MeSH
- kulturní charakteristiky MeSH
- kvalita života MeSH
- lidé MeSH
- mladiství MeSH
- pacienti psychologie MeSH
- posuzování pracovní neschopnosti * MeSH
- prediktivní hodnota testů MeSH
- předškolní dítě MeSH
- překládání MeSH
- prognóza MeSH
- psychometrie MeSH
- reprodukovatelnost výsledků MeSH
- revmatologie metody MeSH
- rodiče psychologie MeSH
- studie případů a kontrol MeSH
- věk při počátku nemoci MeSH
- zdravotní stav MeSH
- Check Tag
- dítě MeSH
- lidé MeSH
- mladiství MeSH
- mužské pohlaví MeSH
- předškolní dítě MeSH
- ženské pohlaví MeSH
- Publikační typ
- časopisecké články MeSH
- multicentrická studie MeSH
- validační studie MeSH
- Geografické názvy
- Česká republika MeSH
- Publikační typ
- abstrakt z konference MeSH
BACKGROUND AND AIMS: Most diseases in premature neonates are secondary to immaturity of various organ systems. Also the inadequate capacity of mitochondrial energy production may play an important role in the neonatal morbidity. SUBJECTS AND METHODS: The activities and amount of respiratory chain (RC) complexes, pyruvate dehydrogenase (PDH) and citrate synthase (CS) were analysed in isolated muscle mitochondria obtained at autopsy in 19 premature neonates using spectrophotometric and radioenzymatic methods and blue-native electrophoresis and Western blotting. Two groups of children recommended for muscle biopsy at the age of 0.5-2 and 3-18 years served as controls. RESULTS: In premature neonates, the activities of RC complexes III, IV, PDH and CS were markedly lower in comparison with older children. On the contrary, the activity of complex I was higher in premature neonates than in older children. The ratios between RC complexes I, II and III and CS were significantly higher in premature neonates in comparison with older children. In addition, the protein amount of RC complexes and PDH subunits were lower in premature neonates in comparison with older children. CONCLUSION: The results of our study document the age-dependent differences in activities of PDH and respiratory chain complexes in early childhood. Lower functional capacity of mitochondrial energy-providing system in critically ill neonates may be explained by combination of various factors including the delay in maturation of PDH and respiratory chain complexes in very premature neonates and increased degradation of mitochondrial proteins in connection with sepsis, tissue hypoperfusion or hypoxemia.
- MeSH
- citrátsynthasa metabolismus MeSH
- dítě MeSH
- kojenec MeSH
- kosterní svaly cytologie enzymologie fyziologie MeSH
- lidé MeSH
- mladiství MeSH
- následné studie MeSH
- novorozenec nedonošený fyziologie metabolismus MeSH
- novorozenec MeSH
- předškolní dítě MeSH
- pyruvátdehydrogenasový komplex metabolismus MeSH
- respirační komplex III metabolismus MeSH
- respirační komplex IV metabolismus MeSH
- stárnutí metabolismus MeSH
- svalové mitochondrie enzymologie MeSH
- tělesná teplota fyziologie MeSH
- transport elektronů fyziologie MeSH
- Check Tag
- dítě MeSH
- kojenec MeSH
- lidé MeSH
- mladiství MeSH
- mužské pohlaví MeSH
- novorozenec MeSH
- předškolní dítě MeSH
- ženské pohlaví MeSH
OBJECTIVE: A broad spectrum of endocrine and biochemical disturbances was observed in patients with anorexia nervosa. In addition, metabolic changes may concern the efficiency of mitochondrial energy generating system. In our study we analyzed the activities of respiratory chain complexes in females with anorexia nervosa. METHOD: The activities of respiratory chain complexes I, II, IV, I + III, and citrate synthase serving as the control enzyme were measured spectrophotometrically in isolated platelets in 36 females with anorexia nervosa (BMI 15 +/- 1.7) at the age 18-35 years and in 37 age related female controls (BMI 21 +/- 2.2). RESULTS: In females with anorexia nervosa, the activities of respiratory chain complexes I and II in isolated platelets were significantly higher in comparison with controls. No differences were found in the activities of complexes IV and I + III and citrate synthase. CONCLUSION: Our results suggest higher efficiency of some respiratory chain complexes in platelets in females with anorexia nervosa. (c) 2007 by Wiley Periodicals, Inc.
- MeSH
- kojenec MeSH
- Leighova nemoc * diagnóza genetika MeSH
- lidé MeSH
- membránové proteiny MeSH
- molekulární biologie MeSH
- mutace MeSH
- předškolní dítě MeSH
- prognóza MeSH
- psychomotorické poruchy MeSH
- respirační komplex IV genetika MeSH
- Check Tag
- kojenec MeSH
- lidé MeSH
- předškolní dítě MeSH
- ženské pohlaví MeSH
- Publikační typ
- kazuistiky MeSH
- práce podpořená grantem MeSH
Mitochondrial respiratory chain enzyme Complexes are present in placenta at proportion similar to other tissues with exception of glycerophosphate dehydrogenase (mGPDH) which is expressed at a very high rate. As shown by Western blot quantification and respiratory chain enzyme activity measurements, the specific content of mGPDH is similar to that of succinate dehydrogenase or NADH dehydrogenase. Using fluorometric probe dichlorodihydrofluorescein diacetate we found that placental mitochondria display high rate of glycerophosphate-dependent hydrogen peroxide production. This was confirmed by oxygraphic detection of glycerophosphate-induced, KCN- or antimycin A-insensitive oxygen uptake. Hydrogen peroxide production by mGPDH was highly activated by one-electron acceptor, potassium ferricyanide and it was depressed by inhibitors of mGPDH and by cytochrome c. Our results indicate that mGPDH should be considered as an additional source of reactive oxygen species participating in induction of oxidative stress in placenta.
- MeSH
- financování organizované MeSH
- glycerolfosfátdehydrogenasa metabolismus MeSH
- křečci praví MeSH
- krysa rodu rattus MeSH
- kyslík metabolismus MeSH
- lidé MeSH
- mitochondrie enzymologie MeSH
- oxidoreduktasy metabolismus MeSH
- peroxid vodíku metabolismus MeSH
- placenta enzymologie MeSH
- reaktivní formy kyslíku metabolismus MeSH
- zvířata MeSH
- Check Tag
- křečci praví MeSH
- krysa rodu rattus MeSH
- lidé MeSH
- ženské pohlaví MeSH
- zvířata MeSH
A retrospective, multicenter study of 180 children with cytochrome c oxidase (COX) deficiency analyzed the clinical features, prognosis, and molecular bases of the COX deficiency. Clinical symptoms including failure to thrive, encephalopathy, hypotony, Leigh syndrome, cardiac involvement, and hepatopathy appeared in most patients early after birth or in early childhood. Two thirds of all children died. Biochemical examination revealed an isolated COX deficiency in 101 children and COX deficiency combined with disturbances of other respiratory chain complexes in 79 children. Blood and cerebrospinal fluid lactate increased in 85% and 81% of examined cases, respectively. Pathogenic mutations in mitochondrial or nuclear DNA were established in 75 patients. Mutations in surfeit locus protein 1 gene (SURF1) were found in 47 children with Leigh syndrome; 2bp deletion 845-846delCT was found in 89% of independent alleles. Mutations in a mitochondrial copper-binding protein (SCO2) gene were found in nine children with encephalomyopathy and/or cardiomyopathy; all of them were homozygotes or heterozygotes for 1541G>A mutation. Different mitochondrial DNA (mtDNA) deletion or depletion were found in nine children, mtDNA mutation 3243A>G in six, mtDNA mutation 8363G>A in two children with Leigh syndrome and mtDNA mutations 8344A>G, and 9205-9206delTA in one child each. COX deficiency represents a heterogeneous group of diseases with unfavorable prognosis. Marked prevalence of two nuclear DNA mutations (845-846delCT in the SURF1 gene and 1541G>A in the SCO2 gene) associated with COX deficiency in a Slavonic population suggests the existence of regional differences in the genetic basis of COX deficiency.
- MeSH
- deficit cytochrom-c-oxidázy diagnóza genetika mortalita MeSH
- dítě MeSH
- financování organizované MeSH
- kojenec MeSH
- lidé MeSH
- membránové proteiny MeSH
- mitochondriální DNA genetika MeSH
- mitochondriální proteiny MeSH
- mladiství MeSH
- mutace MeSH
- novorozenec MeSH
- předškolní dítě MeSH
- prognóza MeSH
- proteiny genetika MeSH
- sekvenční delece MeSH
- transportní proteiny MeSH
- Check Tag
- dítě MeSH
- kojenec MeSH
- lidé MeSH
- mladiství MeSH
- mužské pohlaví MeSH
- novorozenec MeSH
- předškolní dítě MeSH
- ženské pohlaví MeSH
- Publikační typ
- multicentrická studie MeSH
- Geografické názvy
- Česká republika MeSH
- Polsko MeSH
- Slovenská republika MeSH
