Low levels of mannose-binding lectin confers protection against tuberculosis in Turkish children.

Mannose-binding lectin (MBL) plays an important role in innate immunity mediating phagocytosis and activating the MBL complement pathway. Few studies, conducted in adult populations, have shown that genetically determined low MBL levels may confer partial protection against tuberculosis (TB). In this study we aimed to investigate the relationships between the susceptibility to TB and two low producing MBL2 gene polymorphisms (codons 54 and 57) and MBL levels in children. Forty-four TB children (27 pulmonary TB, 17 extrapulmonary TB) and 99 age-matched healthy control children were included in the study. The mean age in the study group was 7.02 +/- 4.5 years. Genotyping of the MBL2 gene for codon 54 and 57 polymorphisms was carried out, and MBL levels in serum were also detected in all subjects from both groups. None of the subjects from either group showed codon 57 polymorphisms. The frequency of the AB genotype which produces low level MBL is significantly lower in the patients (9.1%) compared to control subjects (27.3%) (p < 0.011). The difference was especially significant between the extrapulmonary group and healthy controls (p < 0.006). The BB genotype was observed in only one child from the healthy controls and no children from the patient group. The median MBL plasma concentration was also significantly lower in the control group than that found in the study group (p = 0.036). These results indicate that low levels of MBL and AB genotype may be involved in the protection against tuberculosis, especially extrapulmonary tuberculosis in children.

Heat shock protein 70 expression in neonatal rats after hypoxic stress.

OBJECTIVES: The tissue damage due to hypoxia in newborns is to some extent age-dependent; organs of premature babies are more vulnerable to hypoxic insult than full-term neonates. The aim of this immunohistochemical study was to investigate the role of heat shock protein 70 (HSP70), a stress-inducible protein, in developing the response to hypoxia in premature newborns. METHODS: Postnatal day-7 rats (corresponding to a human fetus of 32-34 weeks' gestation) and day-12 rats (corresponding to a full-term newborn infant) (n = 7) were subjected to mild hypoxia at 33 degrees C. Control rats (n = 7) for each group breathed room air for 4 h. After 4 h of recovery, the animals were killed, and brains, hearts and kidneys were removed for immunohistochemical staining. RESULTS: Immunohistochemically, HSP70 expression was found to be induced in the hippocampus and myocardium after exposure to hypoxia. The level of HSP70 expression in the hippocampus after hypoxic stress was significantly higher in the 12-day rats than in the 7-day rats (p = 0.03). However, HSP70 expression in the myocardium did not show any significant difference between the two groups. In addition, no significant induction of HSP70 expression was apparent in the kidney of rats exposed to hypoxia or in any organ of the control animals. CONCLUSIONS: We conclude that diminished HSP70 expression in the hippocampus of premature newborns may play a critical role in developing the response to hypoxic stress. However, HSP70 expression in the heart and the kidney after exposure to hypoxia did not appear to be related to fetal maturity.

Noncompaction of the right ventricle following Senning repair.

A three-year-old boy presented with generalized edema, respiratory distress, prominent right ventricular impulse and hepatosplenomegaly. He had undergone Senning repair at one year of age. On his echocardiography, there were numerous prominent trabeculations and deep intertrabecular recesses measuring approximately 5 mm in depth along the free wall and right ventricular apex. Echogenicity of the endocardial surface was increased suggesting a fibrotic process in progress. Intertrabecular recesses were observed to be filling from the ventricle by color Doppler which is consistent with noncompaction. Various semilunar valve obstructions were shown to be responsible for the persistence of deep endomyocardial spaces surrounded by exeggerated hypertrophy of the trabeculae. This report presents the echocardiographic findings of right ventricular cardiomyopathy associated with dextroposition of the great arteries following Senning operation resembling noncompaction. Thus, this rare entity needs to be clarified regarding morphological criteria in distinction from other cardiomyopathies.

Involuntary movements in infantile cobalamin deficiency appearing after treatment.

Involuntary movements may be a symptom in most infants who present with neurologic syndrome of infantile cobalamin (vitamin B12) deficiency. In this report, two infants with cobalamin deficiency are presented. These patients also developed a striking movement disorder that appeared a few days after treatment with intramuscular cobalamin. The movement disorder was characterized by severe involuntary movements, which were a combination of tremor and myoclonus particularly involving tongue, face, pharynx, and legs. The neurologic symptoms improved within a few days after the administration of clonazepam. In each patient the mother was also cobalamin deficient and the infant was solely breast-fed. The cause of involuntary movements that can appear rarely after treatment in infantile cobalamin deficiency is not known. Besides initial neurologic presenting symptoms of cobalamin deficiency, the occurrence of involuntary movements after treatment should also receive attention. This movement disorder may disappear spontaneously, or an additional treatment may be an alternative approach if the symptoms are severe.

Left ventricular diastolic abnormalities in children with beta-thalassemia major: a Doppler echocardiographic study.

Left ventricular filling patterns were assessed by Doppler echocardiography in 63 beta-thalassemia major patients, aged for to 21 years, with no clinical evidence of congestive heart failure and 63 age- and sex-matched normal controls. The patients with beta-thalassemia major were divided into three age groups, namely four to nine years (6.8 +/- 1.5 years), 10-15 years (12.1 +/- 1.6 years) and older than 15 years (17.3 +/- 1.7 years). They were compared with age- and sex-matched normal controls in respects of Doppler diastolic indices. The ratio between the early and late (atrial) peaks of flow velocity was higher and peak flow velocity in late diastole was significantly lower in patients with beta-thalassemia major as compared to controls in all three age groups (p < .001). As compared with the controls, peak early diastolic flow velocity was also significantly higher in the thalassemics aged 10 to 15 years (92 +/- 16 vs 80 +/- 12 cm/s, P < .01) and in those older than 15 years (95 +/- 16 vs 79 +/- 13 cm/s, p < .001). Restrictive left ventricular diastolic abnormalities were detected in a total of 34 (54%) patients with beta-thalassemia major, whereas left ventricular systolic abnormalities were identified only eight (13%) of them. None of the patients without left ventricular diastolic abnormalities showed left ventricular systolic abnormalities. There was not any significant correlation between the hematologic parameters, such as mean serum ferritin, maximum serum ferritin and the number of blood units transfused, and left ventricular Doppler diastolic indices (p > .05). From the data presented here, we therefore conclude that left ventricular diastolic abnormalities develop in patients with beta-thalassemia major in the early phase of the disease and before the appearance of systolic abnormalities, when clinical symptoms of congestive heart failure are absent.

Lymphocyte subsets and plasma IL-1 alpha, IL-2, and TNF-alpha concentrations in acute rheumatic fever and chronic rheumatic heart disease.

The distribution of CD3+, CD4+, CD8+, CD19+, CD16+, and CD25+ lymphocyte populations in peripheral blood as well as the plasma concentrations of interleukin-1 alpha (IL-1 alpha), and IL-2 and tumor necrosis factor alpha (TNF-alpha) were investigated in 25 children with acute rheumatic fever (ARF) at the time of admission and after 3 months and in 15 children with chronic rheumatic heart disease (CRHD) and in 15 children with streptoccocal pharyngitis (SP) in order to determine changes in lymphocyte subsets and cytokine concentrations occurring during different stages of the disease. The percentages and absolute counts of CD4+, CD16+, CD25+ cells, the ration of CD4/CD8 and plasma concentrations of IL-1 alpha and IL-2 in patients with ARF were significantly higher at admission than 3 months later. These levels were also significantly higher than in patients with CRHD, SP, or normal controls. Production of IL-2 in ARF and CRHD patients directly correlated with the percentages of CD4+ and CD25+ cells. According to our results, the evidences of increased cellular immune response in ARF are increased percentages CD4+ and CD25+ cells, CD4/CD8 ratio, and increased plasma concentrations of IL-1 alpha and IL-2. Furthermore, activation of cellular immune response was not present throughout all stages of rheumatic heart disease and also in SP.

A case of Marden-Walker syndrome with Dandy-Walker malformation.

A 5-month-old girl with Marden-Walker syndrome is presented. This is a rare autosomal recessive syndrome. So far, approximately 20 cases have been described in the literature. The patient was hospitalized because of difficulty in feeding and slow spontaneous movements. Her parents were first cousins. She was diagnosed with clinical findings of growth and motor retardation, typical facial appearance, congenital heart disease, arachnodactyly, joint contractures, and a Dandy-Walker malformation on magnetic resonance imaging.

Long-term use of anti-D in chronic idiopathic thrombocytopenic purpura.

Chronic idiopathic thrombocytopenic purpura is an autoimmune disease characterized by antibody-mediated destruction of platelets. To maintain the platelets above the symptomatic level, we administered anti-D (100 micrograms for 5 consecutive days) in 19 children with idiopathic thrombocytopenic purpura (ITP). Four patients did not respond to treatment. Fifteen responded with an increase in the average platelet number to 76,000/microL on the 7th postinjection day. Within 45 days, however, platelets dropped to 27,000/microL. Three months after this study, two patients from the study group were re-administered anti-D in daily injections for 5 consecutive days, as was done previously. Monthly administration of anti-D in two patients maintained platelets above 30,000/microL for periods of five and six months. We concluded that monthly administration of anti-D after five consecutive daily injections can maintain platelet levels above the symptomatic level and may provide a corticosteroid-free safe interval of nearly five months.

The decline of BCG immunity after neonatal vaccination: what about revaccination at one year?

Two hundred and nineteen healthy newborns were vaccinated with the BCG vaccine, and their immunity was checked thereafter at 3, 6 and 12 months of age. We determined that 87% of tuberculin reactivity at 3 months declined to 61% at 12 months. Revaccination of nonreactive infants provided a 100% rate of reactivity. In the light of this information we propose a revision in the BCG vaccination programme in developing countries. We also found a close relationship between the tuberculin reactivity and scar formation after BCG vaccination, suggesting that a simple check of the left deltoid region for a BCG scar may give enough information about the child's immunity to tuberculosis.

Disappearing intracardiac thrombi in both atria after mumps in a patient with Turner syndrome.

A girl with Turner syndrome was admitted with an acute cerebrovascular occlusive disease 15 days after mumps infection. Imaging techniques such as Doppler echocardiography, computed tomography and angiography of the heart revealed the existence of masses in both atria. Eight days after the last radiologic study the patient had an operation, but no masses were found in either atrium. It was thought that atrial thrombi, probably formed after viral infection, had broken down to form emboli and disappeared. It is proposed that the patients with congenital cardiopathy should be regularly examined after viral infections for possible intracardiac thrombus formation. If such a mass is found and the decision is to operate, the existence of the mass must be confirmed even in the operating room just before intervention.