ABSTRACT
BACKGROUND: The purpose of this study was to evaluate left and right ventricular functions by using the Doppler myocardial performance index (MPI), in children with sickle cell anemia (SCA). METHODS: We examined 32 patients with SCA and 30 age-matched healthy children. Echocardiography and Doppler examinations were completed for each of the subjects. MPI was calculated from the Doppler tracings. RESULTS: Compared with controls, left ventricle (LV) end-diastolic diameter, end-systolic diameter, early-diastolic mitral flow velocity and late-diastolic mitral flow velocity were significantly higher in the patients with SCA. Although, the LV ejection fractions were in the normal ranges in patients and controls, both LV and right ventricle (RV) MPI were significantly higher in patients than those in normal children. CONCLUSION: MPI may be a useful noninvasive and sensitive tool for assessing the sub-clinical cardiac LV and RV dysfunctions in patients with SCA.
Subject(s)
Anemia, Sickle Cell/physiopathology , Echocardiography, Doppler/methods , Ventricular Dysfunction, Left/diagnostic imaging , Ventricular Dysfunction, Right/diagnostic imaging , Adolescent , Anemia, Sickle Cell/complications , Anemia, Sickle Cell/diagnostic imaging , Case-Control Studies , Child , Child, Preschool , Female , Heart Ventricles/diagnostic imaging , Heart Ventricles/physiopathology , Humans , Male , Prospective Studies , Sensitivity and Specificity , Young AdultABSTRACT
An 8-month-old girl was admitted to an outpatient clinic with significant hypotonia and weakness. Organic acid analysis in urine revealed a significant increase in ethylmalonic acid. A deoxyribonucleic analysis revealed the presence of a 625G>A (G-to-A substitution at nucleotide 625) variant short-chain acyl-coenzyme A dehydrogenase gene polymorphism. With the clinical, biochemical and molecular findings, short-chain acyl-coenzyme A dehydrogenase deficiency was suspected. Because 625G>A and 511C>T (C-to-T substitution at nucleotide 511) genetic variations are also present in 14% of the general population, these are considered to be genetic sensitivity variations rather than causing a disease themselves and to result in possible short-chain acyl-coenzyme A dehydrogenase deficiency in the presence of environmental factors such as fever and hunger as well as cellular, biochemical, and other genetic factors. It was stressed that severe infantile hypotonia could also be the only manifestation of ethylmalonic aciduria spectrum disorders.
Subject(s)
Alleles , Butyryl-CoA Dehydrogenase/deficiency , Butyryl-CoA Dehydrogenase/genetics , DNA Mutational Analysis , Lipid Metabolism, Inborn Errors/genetics , Malonates/urine , Muscle Hypotonia/genetics , Muscle Weakness/genetics , Developmental Disabilities/diagnosis , Developmental Disabilities/genetics , Developmental Disabilities/urine , Diagnosis, Differential , Female , Genotype , Humans , Infant , Lipid Metabolism, Inborn Errors/diagnosis , Lipid Metabolism, Inborn Errors/urine , Muscle Hypotonia/diagnosis , Muscle Hypotonia/urine , Muscle Weakness/diagnosis , Muscle Weakness/urine , Neurologic Examination , Phenotype , Polymorphism, Genetic/geneticsABSTRACT
Dorfman-Chanarin syndrome is a rare, autosomal recessive disorder characterized by congenital ichthyosis and presence of intracellular lipid droplets in most tissues. Here, we present a patient from Turkey, who is the fourth Turkish case in the literature with this syndrome, and we review the previous reported cases. He was also the second case reported with hyperlipidemia.
Subject(s)
Hyperlipidemias/diagnosis , Ichthyosis, Lamellar/diagnosis , Child, Preschool , Diagnosis, Differential , Humans , Male , Neutrophils/pathology , TurkeyABSTRACT
BACKGROUND: Although it is the most common lower respiratory infection of infancy, the optimal treatment for acute bronchiolitis is still controversial. The aim of this study was to compare the early and late effects of nebulized L-epinephrine (EPI) and intramuscular dexamethasone (DEX) combination therapy with nebulized salbutamol (SAL) and dexamethasone combination and bronchodilators alone in outpatients with acute bronchiolitis. METHODS: A total of 69 infants aged 2-21 months who were admitted to the Pediatrics Department of the Faculty of Medicine, Mersin University, with acute bronchiolitis were included in a randomized, placebo-controlled, prospective trial study. Patients were assigned to receive either nebulized L-epinephrine (3 mg) or salbutamol (0.15 mg/kg) and 15 min later, either dexamethasone 0.6 mg/kg or placebo (PLA), intramuscularly, in a double-blind randomized fashion. The study groups were: epinephrine + dexamethasone group (group 1, n=23), salbutamol + dexamethasone group (group 2, n=23), epinephrine + placebo group (group 3, n=11), and salbutamol + placebo group (group 4, n=12). The outcome measures were heart rate, respiratory rate and Respiratory Distress Assessment Instrument (RDAI) score determined at 30, 60, 90 and 120 min, 24 h, and 5 days after the first therapy. Patients were then followed-up during the subsequent 2 months for the prevalance of respiratory complaints regarding bronchial hyperreactivity. RESULTS: There were no significant differences between the outcome variables of the four groups within the first 120 min and at 24 hours, or between the rates of requirement of a second dose of the same bronchodilator. However, fifth day RDAI score values of both DEX groups were significantly lower than that of SAL + PLA group (P=0.000 and P=0.01, respectively). The fifth day score value of group 1 was also significantly better than that value of EPI + PLA group but not different from group 2. CONCLUSIONS: A single dose of intramuscular dexamethasone added to nebulized L-epinephrine, or salbutamol therapies resulted in better outcome measures than bronchodilators alone in the late phase (fifth day) of mild to moderate degree bronchiolitis attack. However, effects of EPI + DEX combination was not different from SAL + DEX combination.