Volatile solvent abuse caused glomerulopathy and tubulopathy in street children.

Substance misuse among street children is a significant problem in developing countries. Volatile substances are the most abused agents. According to case reports, chronic renal diseases are common among substance-abusing street children. In this study, we examined the renal findings of 42 volatile substance-abusing street children and compared them with results from 49 healthy children (control). The street children's weight, height, and blood pressure were lower than the controls' (P < 0.05). However, their blood alkaline phosphatase and creatinine phosphokinase levels were higher (P < 0.05), and total blood protein, creatinine, and phosphorus levels were lower than the controls' (P < 0.05). Furthermore, the street children's glomerular filtration rates were within normal limits (P < 0.05), their urinary N-acetyl-beta-glucosaminidase (NAG), beta(2)-microglobulin, microalbumin, protein, calcium, phosphorus, sodium, potassium, and chloride excretions were higher, and tubular phosphate reabsorption were lower than the controls' (P < 0.05). Volatile substances have been charged with causing distal tubular disease, but increased urinary protein, NAG, beta(2)-microglobulin, microalbumin, and electrolyte excretions also result from glomerular, proximal, and distal tubular influences. We believe that increased volatile substance products in the renal parenchyma are responsible for glomerular and tubular damage. Volatile substance-abusing street children should be examined for glomerular and proximal tubular function and distal tubular acidosis.

Loss of desmoplakin isoform I causes early onset cardiomyopathy and heart failure in a Naxos-like syndrome.

BACKGROUND: Desmosomes are cellular junctions important for intercellular adhesion and anchoring the intermediate filament (IF) cytoskeleton to the cell membrane. Desmoplakin (DSP) is the most abundant desmosomal protein with 2 isoforms produced by alternative splicing. METHODS: We describe a patient with a recessively inherited arrhythmogenic dilated cardiomyopathy with left and right ventricular involvement, epidermolytic palmoplantar keratoderma, and woolly hair. The patient showed a severe heart phenotype with an early onset and rapid progression to heart failure at 4 years of age. RESULTS: A homozygous nonsense mutation, R1267X, was found in exon 23 of the desmoplakin gene, which results in an isoform specific truncation of the larger DSPI isoform. The loss of most of the DSPI specific rod domain and C-terminal area was confirmed by Western blotting and immunofluorescence. We further showed that the truncated DSPI transcript is unstable, leading to a loss of DSPI. DSPI is reported to be an obligate constituent of desmosomes and the only isoform present in cardiac tissue. To address this, we reviewed the expression of DSP isoforms in the heart. Our data suggest that DSPI is the major cardiac isoform but we also show that specific compartments of the heart have detectable DSPII expression. CONCLUSIONS: This is the first description of a phenotype caused by a mutation affecting only one DSP isoform. Our findings emphasise the importance of desmoplakin and desmosomes in epidermal and cardiac function and additionally highlight the possibility that the different isoforms of desmoplakin may have distinct functional properties within the desmosome.

Can cystinosis cause coronary artery dilatation?

In children, dilated coronary arteries are usually caused by Kawasaki's disease. We report four children with dilated coronary arteries and nephropathic cystinosis.

Sublingual isosorbide dinitrate-stimulated tilt test for diagnosis of vasovagal syncope in children and adolescents.

Vasovagal syncope is the most likely cause of syncope in the young. Head-up tilt-table test (HUT) provides the ability to provoke vasovagal syncope under controlled laboratory settings. In adult populations, pharmacologic stimulation with intravenous/sublingual isosorbide dinitrate (ISDN) has been shown to be an alternative to isoproterenol for increasing the diagnostic yield of HUT. In this study, 40 patients aged 9-18 years with unexplained syncope and 12 healthy age-matched children were evaluated by HUT to 70 degrees for 45 minutes. If tilting alone did not induce symptoms (syncope and presyncope), 0.1 mg/kg ISDN was given while the patient lay supine. After 5 min, the table was tilted to 70 degrees for 15 min or until the symptoms occurred. The control group consisted of 12 healthy age-matched children studied in a similar manner. Six patients (15%) had a positive basal tilt test. Twenty-five patients (62.5%) lost consciousness following ISDN administration. In the control group, nobody had a syncopal episode during the basal tilt test. However, ISDN administration resulted in 1 positive response (8.3%). The sensitivity of the test was 77.5% and its specificity was 91.6%. It is concluded that sublingual nitroglycerin HUT is suitable for routine clinical practice in children and adolescents with unexplained syncope.

An intrapericardial teratoma with endocrine function.

Intrapericardial teratoma was diagnosed in a nine-year-old male infant with a three-month history of labored breathing and cough. The tumor was completely resected and found to be a mature teratoma, containing pancreatic tissue and producing insulin. A few glucagon and somatostatin containing cells were also present in the periphery of the islets. Postoperative course was uneventful. This is to our knowledge, the first report of an intrapericardial teratoma with such endocrine activity.

Surgical treatment of cardiac echinococcosis: report of eight cases.

Cardiac involvement of hydatid disease is uncommon, and establishing a diagnosis is difficult because the presenting symptoms are variable. Between 1985 and 1997, eight patients ranging in age from 8 to 56 years underwent surgical excision of cardiac hydatid cysts, located in the interventricular septum in two, the right atrium in one, and the intrapericardium in five. There was one hospital death due to septic shock, but the other seven patients recovered uneventfully.

Balloon angioplasty in infants with aortic obstruction after the modified stage I Norwood procedure.

BACKGROUND: The incidence of coarctation after stage I Norwood procedure varies between 11% and 37%, and it contributes to late death after this operation. We describe the incidence and report the results of percutaneous balloon angioplasty of neoaortic arch obstruction in patients after the modified Norwood procedure for hypoplastic left heart syndrome (HLHS). METHODS: During a period of 5 years, 136 patients (94 male, 42 female) underwent a first stage modified Norwood procedure for HLHS. All 95 survivors (69.8%) underwent cardiac catheterization before the second stage. Neoaortic arch obstruction was diagnosed on documentation of a peak systolic gradient of >10 mm Hg across the arch associated with angiographic evidence of localized narrowing of the aortic lumen. RESULTS: Twenty-one (22.1%) of the 95 survivors were documented to have neoaortic arch obstruction. Seventeen patients underwent percutaneous balloon angioplasty for the relief of the neoaortic arch obstruction. The predilatation peak gradient across the arch was reduced significantly by angioplasty from 28.6 +/- 16.9 mm Hg (range 10 to 73 mm Hg) to 5.3 +/- 5.2 mm Hg (range 0 to 19 mm Hg) (P <.001). A final gradient <10 mm Hg or <70% of the starting gradient was considered a success. CONCLUSION: The absence of serious sequelae after the procedure or need for reintervention, as shown by our study, makes balloon angioplasty an effective technique and the treatment of choice for the relief of recoarctation of the neoaortic arch in patients with staged palliation of HLHS.

Congenital subclavian aortic steal syndrome: hypoplastic aortic arch with severe coarctation of the aorta of unusual location.

An unusual case of subclavian-aortic steal syndrome in a pediatric patient with hypoplastic aortic arch with coarctation of the aorta of unusual location is described. Aortography showed hypoplasia of the arcus aorta and severe coarctation proximal to the left subclavian artery associated with an aneurysm formation on the isthmus and descending aorta. The enlargement of the arcus aorta was accomplished by prosthetic patch aortoplasty extending from the ascending to descending aorta via median sternotomy using cardiopulmonary bypass and moderate hypothermia. Postoperatively, the patient is doing well with equalized blood pressure.

Divided left atrium in association with tricuspid atresia and discordant ventriculo-arterial connections.

Division of the morphologically left atrium is a rare abnormality, constituting around 0.1% of congenital heart disease. It may coexist with other cardiac abnormalities, and this association may obscure its recognition. We report an uncommon association with tricuspid atresia and discordant ventriculo-arterial connections, the latter dominating the clinical picture. Accurate diagnosis was made by transthoracic cross-sectional echocardiography, and the patient was referred to surgery without need for cardiac catheterisation.

Recovery pattern of left ventricular dysfunction following radiofrequency ablation of incessant supraventricular tachycardia in infants and children.

OBJECTIVE: To assess recovery pattern of left ventricular function secondary to incessant tachycardia after radiofrequency ablation in a group of infants and children. DESIGN AND SETTING: A combined prospective and retrospective echocardiographic study carried out in a tertiary paediatric cardiac centre. PATIENTS: Echocardiographic evaluation of left ventricular size and function in nine children with incessant tachycardia, before and after successful radiofrequency ablation. Age at ablation ranged from 2 months to 12.5 years (mean 4.1 years). Recovery of left ventricular function was analysed in relation to age at ablation (group I < 18 months, group II > 18 months). MAIN OUTCOME MEASURE: Ventricular recovery pattern. RESULTS: Seven of the nine children had left ventricular dysfunction; six of these also had left ventricular dilatation. All children with left ventricular dysfunction had normalisation of ejection fraction and fractional shortening; left ventricular dilatation also improved, but the improvement occurred after recovery of function. There was a shorter recovery time for left ventricular function in younger (group I) than in older children (group II) (mean (SD) 5.7 (7.2) months v 31.3 (5.2) (p < 0.002). CONCLUSIONS: Tachycardia induced cardiomyopathy is reversible following curative treatment with radiofrequency. Recovery of left ventricular systolic function precedes recovery of left ventricular dilatation. Time course to recovery is shorter in younger children.

Transcatheter embolization of a residual congenital coronary arteriovenous fistula with a detachable balloon; superiority of interventional cardiology?

A ten-year-old girl who presented with a continuous murmur was diagnosed with a right coronary to right ventricular fistula with colored Doppler echocardiography and selective arteriography. She underwent traditional treatment-ligation of the fistula by sternotomy. Afterwards, the systolic component of the murmur persisted and repeat arteriography showed a residual shunt through the fistula, with no change in the diameter of the right coronary artery. We describe the first case in which a residual fistula was treated with a detachable balloon embolization.

Late development of dissecting aneurysm following balloon angioplasty of native aortic coarctation.

Acute aortic dissection during balloon angioplasty for coarctation of the aorta or aneurysm formation during follow-up are well-known complications of this procedure. Dissecting aneurysm development during long-term follow-up after balloon angioplasty of a native coarctation has not been previously reported. We report a case in which a huge dissecting aneurysm developed 3 years after the native coarctation angioplasty procedure. The aneurysm required surgical repair.

Transcatheter closure of the ductus arteriosus in children and young adults.

Transcatheter occlusion of persistent patent ductus arteriosus (PDA) was attempted in 32 patients (22 female and 10 male, mean age 5.12 +/- 3.98 years, range 9 months to 19.2 years) using Rashkind's occluder device (USCI). Implantation of a second occluder device was attempted in three of the patients. Device embolization to a pulmonary artery occurred in three patients, all with the 12 mm occluder device; two of these devices were retrieved by grabber catheter and the last with thoracotomy without adverse sequelae. Embolization to the right atrium occurred in another patient during a second device implantation attempt because of fluoroscopy problems; this patient required open-heart surgery with sequala of 2 (+) tricuspid insufficiency. In another patient with a significant shunt after the implantation of a 17 mm occluder device, mechanical hemolysis developed, but surgical intervention was not required. The overall complication rate was five out of 35 implantation procedures (14.3%). Besides these, sublingual nifedipine was required for two patients whose systolic blood pressure exceeded 160 mmHg just after the implantation procedure. Sixteen 12 mm and fifteen 17 mm occluder devices were successfully and uneventfully implanted in the first procedure, except for two patients in whom a 17 mm occluder device was implanted after retrieval of an embolized 12 mm occluder. Overall early and mid-term complete occlusion was achieved in 24 patients (75%). Complete occlusion of PDA in the first days after the procedure was achieved in all patients, with the narrowest ductal diameter of less-than 3 mm with the 12 mm occluder device, and less than 6 mm with the 17 mm occluder device.(ABSTRACT TRUNCATED AT 250 WORDS)

beta-Endorphin and some hormonal levels in children with acute stress hyperglycaemia.

The levels of beta-endorphin, insulin, cortisol, GH, glucagon, prolactin and TSH were measured in serum samples of 9 hyperglycaemic patients (3 female, 6 male) with a mean age of 4.1 years admitted to the pediatric emergency unit. All patients were in acute stress due to severe diseases (acute gastroenteritis, bronchopneumonia, septicaemia, etc.). Initial and repeat blood samples for hormone determination were taken at admission and in the recovery phase (after 4-6 weeks of treatment). OGTT was also performed in the recovery phase. The hyperglycaemia, monitored hourly following the initial determination, returned to normal in all patients in 1-5 h without specific treatment. Mean serum glucose values at admission and in the recovery phase were 287.0 and 84.1 mg/dl. Concomitant to the hyperglycaemia encountered in these patients in the acute phase of stress, an increase was noted in all hormone levels excluding glucagon and cortisol. All elevated hormone levels fell to normal in 4-6 weeks with significant differences from initial levels for beta-endorphin (P < 0.05) and insulin (P < 0.01). OGTT gave a normal curve. These results indicate that stress hyperglycaemia, despite high insulin levels, is associated with an increase in beta-endorphin levels. The results also show that hyperglycaemia in acute disease does not alter OGTT in short-term follow up.

Influence of some social and maternal factors on birth weight in Hungary.

In this study, we have examined the impact of some social and maternal factors on birth weight in the two regions Hungary, in the capital and in one county. Although many of the variables were analyzed in both regions, significant relationships were found between LBW and smoking habits, birth order and mother's age. The incidence of low birth weight was higher in Budapest than in Vas. Smoking habits were found as a common factor of higher significance in both regions. Birth order and mother's age were found as other factors of higher significance in the Budapest sample as compared to Vas.

PIP: A researcher compared 1979-1983 demographic and health survey data from urban Budapest and Vas, a rural county, in Hungary to determine the impact of social and maternal factors on birth weight. Budapest had a higher percentage of small for date infants in the low birth weight (LBW) group (47.7%) than did Vas (25%). Smoking which is common in Hungary had the greatest impact on LBW overall (F statistic 34.1; .001). Incidence of LBW was especially significant in smoking mothers from Vas (p.001 vs. p.01 Budapest). The 2nd most overall significant effect of LBW was birth order (F statistic 24.3; p,.001) beginning with the 3rd pregnancy. This may be confounded by education since low educated mothers tended to have 2 children. In fact, birth order 3 stood higher in Vas (21%) than in Budapest (13.3%). Mother's age also significantly affected for mothers 20 years old and those 40 years old. Most of this significance occurred among mothers in Budapest, however. Manual workers had more LBW infants than nonmanual workers and housewives (F statistic 15.4; p.001), particularly in Budapest. Similarly a statistically significant overall association existed between increased incidence of LBW and low education (F statistic 13.2; p.001). Indeed educational level was the 2nd leading factor relating to LBW in Vas. In conclusion, the importance of the variables were not the same in both areas.

Beta-endorphin levels of children in acute stress.

In this study aiming to clarify the relationships between beta-endorphin and glucose levels, beta-endorphin levels were determined in children in acute stress. The study was carried out on 32 critically ill children between 5 days and 12 years presenting with clinical symptoms of acute infectious conditions. 11 healthy children were taken as controls. The results showed that although beta-endorphin levels were elevated in all critically ill patients, these levels were significantly higher than control values in hyperglycaemic cases. The insulin levels were also elevated. A follow-up of nine of the hyperglycaemic cases showed a significant decline in beta-endorphin and insulin levels with recovery. Glucose tolerance was also normal. These results confirm the reports of many other studies on the role of beta-endorphin as a stress hormone.

Relationships between some maternal factors and pregnancy outcome.

PIP: This study, carried out on mother-infant pairs in obstetric hospitals in Istanbul, was designed to investigate the impact of some maternal parameters on pregnancy outcome as well as to provide information on birth weight, and incidence of low birth weight, preterm birth, and small for gestational age birth. Low birth weight, preterm birth, and fetal malnutrition are among major risk factors influencing perinatal, neonatal, and postneonatal mortality and morbidity. Reported values for prepregnancy body weight and postpartum measurements of stature, weight, mid-upper arm circumference showed that the women in this series did not have caloric undernutrition, while nearly 9% were of low stature. Maternal stature, postpartum body weight, and postpartum weight and height values were found to be important determinants of birth weight. The frequency of preterm births in this series corresponds fairly well with that found in another group of Turkish mother-infant pairs in which gestational age was determined by Dubowitz scoring. In agreement with many previous studies, maternal stature and body weight stood out as important influences on the outcome of pregnancy in this series. Overall, the nutritional state of the mother prior to pregnancy is the most important determinant of birth weight.^ieng