ABSTRACT
The carnitine ester spectrum was studied using ESI tandem mass spectrometry in a 2.5-year-old male Roma child with homozygous deletion of 844C of the SLC22A5 gene, presenting with hepatopathy and cardiomyopathy. Besides the dramatic decrease of plasma free carnitine (1.38 vs 32.7 mumol/L in controls) all plasma carnitine esters were severely decreased in the proband: the total esters were 31.4% of the controls. In three heterozygous siblings the free carnitine level was 62.3% of the normal controls, while the levels of the individual carnitine esters ranged between 15.5% and 163% (average 70.9%). The heterozygous parents exhibited the same pattern. The proband was supplemented with 50 mg/kg per day of L-carnitine oral solution. After 2 months of treatment, his hepatomegaly, elevated transaminases and the pathological cardiac ultrasound parameters normalized. The plasma free carnitine rose to 12.8 mumol/L (39% of the controls). All of the carnitine esters also increased; however, the individual esters were still 8.5-169.7% of the controls (average 55.5%). After 13 months of treatment there was a further increase in free carnitine (15.9 mumol/L) as well as in the level of the individual esters, ranging between 16.1% and 140.3% of the controls (average 66.9%). The data presented here show that, besides the dramatic decrease of free carnitine, the carnitine ester metabolism is also affected in OCTN2 deficiency; the replenishment of the pools under treatment is slow. Despite an impressive clinical improvement, the carnitine metabolism can be still seriously affected.
Subject(s)
Carnitine/blood , Metabolism, Inborn Errors/enzymology , Metabolism, Inborn Errors/genetics , Organic Cation Transport Proteins/deficiency , Organic Cation Transport Proteins/genetics , Adult , Carnitine/administration & dosage , Carnitine/deficiency , Case-Control Studies , Child, Preschool , Consanguinity , Frameshift Mutation , Genetic Carrier Screening , Homozygote , Humans , Male , Metabolism, Inborn Errors/blood , Metabolism, Inborn Errors/drug therapy , Solute Carrier Family 22 Member 5 , Spectrometry, Mass, Electrospray IonizationABSTRACT
Endocarditis is an uncommon complication of invasive candidiasis. We present a fatal case of endocarditis caused by Candida albicans in a very low birth weight infant. The 780-g male infant did not have any structural heart disease and a central venous catheter was not placed. Endocarditis developed in spite of parenteral fluconazole treatment. Echocardiography was a valuable tool in making the diagnosis. The infant died on the 40th day of life. The development of Candida endocarditis in a premature infant who was treated with fluconazole had not been previously reported. In the case of systemic candidiasis, premature infants require very careful monitoring for the progression of the disease, even if antifungal therapy is administered.
Subject(s)
Candidiasis , Endocarditis/microbiology , Infant, Premature , Infant, Very Low Birth Weight , Candida albicans/isolation & purification , Candidiasis/drug therapy , Endocarditis/diagnostic imaging , Endocarditis/pathology , Fatal Outcome , Fluconazole/therapeutic use , Humans , Infant, Newborn , Lung/microbiology , Lung/pathology , Male , UltrasonographyABSTRACT
The incidence of congenital heart diseases was evaluated in the period 1994-1998. The number of those who went through therapeutic intervention and those infants dying of congenital heart disease were also assessed. Data were collected retrospectively. During the study period 26,932 live-births occurred in Hajdú-Bihar county and 421 congenital heart disease were diagnosed, 81% of whom were diagnosed under the age of one year. The most frequent diseases were secundum type atrial septal defect, ventricular septal defect and patent ductus arteriosus. 121 therapeutic procedures were performed (109 operations and 12 interventional heart catheterizations). 41 interventions occurred under the age of one and 13 before the age of 28 days. The mean age of children older than 1 year was 6 years at the time of the operation or interventional catheterization. The overall postoperative mortality within 30 days was 8.3%. During the study period 28 infants with significant heart disease died, 20 of whom also had an associated disease (most frequently prematurity). For congenital heart disease 4.5 operations or interventional heart catheterizations were required/1000 live births. The higher rate of diagnosed congenital heart disease is due to the development in diagnostic techniques, especially to Doppler-echocardiography. Owing to the operational waiting list the children's age at the time of operation is higher than optimal. The mortality among infants with heart disease is influenced by many factors, that is why stepping forward is a complex task in this field.
Subject(s)
Cardiac Surgical Procedures , Heart Defects, Congenital/epidemiology , Heart Defects, Congenital/surgery , Adolescent , Cardiac Surgical Procedures/mortality , Cardiac Surgical Procedures/statistics & numerical data , Child , Child, Preschool , Ductus Arteriosus, Patent/epidemiology , Ductus Arteriosus, Patent/surgery , Female , Heart Defects, Congenital/complications , Heart Defects, Congenital/mortality , Heart Septal Defects, Atrial/epidemiology , Heart Septal Defects, Atrial/surgery , Heart Septal Defects, Ventricular/epidemiology , Heart Septal Defects, Ventricular/surgery , Humans , Hungary/epidemiology , Incidence , Infant , Infant Mortality , Infant, Newborn , Male , Retrospective Studies , Treatment OutcomeABSTRACT
Evidence-based medicine indicates continuous and systematic use of the results of clinical research in everyday clinical practice. It is an important aid to avoid biases of medical decisions caused by following subjective opinion, tradition without criticism or extrapolation from observations at molecular or cellular level. The conscientious use of current best evidence in making decisions about the care of individual patient is an important guarantee of quality. The authors present the details of evidence-based medicine, the main steps of exploring and synthesising evidences.
Subject(s)
Evidence-Based Medicine , Decision Making , Humans , HungaryABSTRACT
The authors present the case of a three and a half years old child with large mediastinal tumor who developed transient hypertrophic cardiomyopathy two weeks following the termination of mediastinal radiotherapy. He had already received the second weekly dose of EVAIA treatment (ifosfamide, vincristine, etoposide, adriamycin) when symptoms manifested themselves. In spite of continuation of chemotherapeutic treatment (without adriamycin) symptoms disappeared and eight months later normal septal thickness, and normal ventricular function were detected. Chemotherapy may have facilitated the effect of irradiation but the latter is considered the major causative factor.