[Infrared spectroscopy of urinary calculi before 1900 in votive offerings of the Bavarian pilgrimage church at Grafrath]. / Infrarotspektroskopie von alten Harnsteinen aus den Votivgaben der Wallfahrtskirche Grafrath.

BACKGROUND: The old urinary calculi of the votive offerings in the pilgrimage church at Grafrath offer the possibility of analysing the components by infrared spectroscopy to give insights into factors that might influence their formation. A total of 166 specimens were taken from 139 objects (134 stones, 5 bones), in some stones from different layers. MATERIAL AND METHODS: Spectral analysis showed typical components for urinary calculi in 127 stones. These were compared with a control group of 98 urinary stones from carriers (77 male, 21 female) during 2007/2008 in Bavaria. RESULTS: The percentage of occurrence of ammonium acid urate (NH(4)U) was high in the old stones (68.0%) versus the 2007/2008 group (1.0%). In uric acid (HS) there was no relevant difference between the two groups, whereas the occurrence of the oxalates whewellite (Whe) and weddellite (Wed) was much less in the old stones (Whe 18.1-69.4%, Wed 7.9-26.5 %). The phosphates differ in the components in favour of brushite in the old stones. The high occurrence of NH(4) in the old stones is comparable with (a) the old pre-1900 collection of Norwich (England), especially with the pre-1800 juvenile bladder stones, and (b) urinary stones in endemic areas of stone disease in children such as in North Thailand. Data about the Grafrath stone carriers (name, age, hometown) are not available but can indirectly be derived from the miracle books (1444-1728) of Grafrath with 12,131 reports; 1,165 had urologic disease of which 70% were children with urinary calculi coming from areas of Upper Bavaria and Swabia. CONCLUSION: The finding of a high NH(4)U content indicates that this area might have been a stone belt for bladder stones in children. Under- or malnutrition with low protein and low fluid intake may be the aetiologic factor.

Laparoscopic resection of a congenital liver cyst and simultaneous closure of a diaphragmatic defect in a 5-month-old infant.

Congenital liver cysts are an unusual finding and present a difficult diagnostic challenge. In a 5-month-old infant, routine echocardiography detected a cystic lesion (3 cm in diameter) just below the diaphragm. All conventional diagnostics, including magnetic resonance imaging (MRI), failed to clarify its etiology definitively. Moreover, a phrenic irregularity was suspected at the site of Morgagni. Finally, laparoscopy (5-mm scope and instruments) confirmed the diagnosis of a solitary liver cyst and a diaphragmatic defect. Using a Harmonic scalpel, the cyst was resected and the diaphragmatic defect was closed with interrupted nonabsorbable sutures. The patient's postoperative course was uneventful. Pathological analysis showed a true liver cyst with mesothelial lining and hepatic residues. Retrospective speculation suggests a common embryologic origin for both malformations. In conclusion, laparoscopy allowed final diagnosis and simultaneous treatment of an infant with the rare combination of a liver cyst and a diaphragmatic defect. To our knowledge, this case represents the first endosurgical experience of such a simultaneous procedure.

Apical hypertrophic cardiomyopathy due to a de novo mutation Arg719Trp of the beta-myosin heavy chain gene and cardiac arrest in childhood. A case report and family study.

Hypertrophic cardiomyopathy (HCM) is a myocardial disease with variable phenotpye and genotype. To demonstrate that the mutation Arg719Trp in the cardiac beta-myosin heavy chain (beta MHC) gene is a high risk factor for sudden death and can be associated with an unusual apical non-obstructive HCM, we report the case of a 6 1/2 year old boy, who suffered cardiac arrest. The proband had a de novo mutation of the beta MHC gene (Arg719Trp) on the paternal beta MHC allele and a second maternally transmitted mutation (Met349Thr), as was shown previously (Jeschke et al. 1998 (11)). Here we report the clinical phenotype of the proband and of his relatives in detail. The proband had a marked apical and midventricular hypertrophy of the left and right ventricle without obstruction. There was an abnormal relaxation of both ventricles. Holter monitoring detected no arrhythmia. Ventricular fibrillation was inducible only by aggressive programmed stimulation. The boy died 3 1/2 years later after another cardiac arrest due to arrhythmia. Five carriers of the Met349Thr mutation in the family were asymptomatic and had no echocardiographic changes in the heart, suggesting a neutral inherited polymorphism or a recessive mutation. It is concluded that there is an association of the mutation Arg719Trp in the beta-myosin heavy chain with sudden cardiac death in a young child. Disease history in conjunction with the genetic analysis suggests that the implantation of a defibrillator converter would have been a beneficial and probably life saving measure.

Acute inferior cardiac inflow obstruction resulting from inadvertent surgical closure of a prominent Eustachian valve mistaken for an atrial septal defect.

A 5-month-old boy with a VACTERL syndrome underwent cardiac surgery for correction of a common arterial trunk and closure of an atrial septal defect. A prominent Eustachian valve was mistaken for the atrial septum and surgically closed. Thirty months later, after gradual shrinking of the foramen ovale with associated reduction of the right-to-left shunt, the boy presented with acute symptoms of a lower inflow obstruction, characterized by hepatomegaly and engorged abdominal vein pattern (Medusa's head). The boy was reoperated successfully after the condition had been recognized.

A high risk phenotype of hypertrophic cardiomyopathy associated with a compound genotype of two mutated beta-myosin heavy chain genes.

Hypertrophic cardiomyopathy (HCM) is a genetically and clinically heterogeneous myocardial disease that is in most cases familial and transmitted in a dominant fashion. The most frequently affected gene codes for the cardiac (ventricular) beta-myosin heavy chain. We have investigated the genetic cause of an isolated case of HCM, which was marked by an extremely severe phenotype and a very early age of onset. HCM is normally not a disease of small children. The proband was a boy who had suffered cardiac arrest at the age of 6.5 years (resuscitation by cardioconversion). Upon screening of the beta-myosin heavy chain gene as a candidate, two missense mutations, one in exon 19 (Arg719Trp) and a second in exon 12 (Met349Thr), were identified. The Arg719Trp mutation was de novo, as it was not found in the parents. In contrast, the Met349Thr mutation was inherited through the maternal grandmother. Six family members were carriers of this mutation but only the proband was clinically affected. Segregation and molecular analysis allowed us to assign the Met349Thr mutation to the maternal and the Arg719Trp de novo mutation to the paternal beta-myosin allele. Thus, the patient has no normal myosin. We interpret these findings in terms of compound heterozygosity of a dominant (Arg719Trp) and a recessive (Met349Thr) mutation. Whereas a single mutated Arg719Trp allele would be sufficient to cause HCM, the concurrent Met349Thr mutation alone does not apparently induce the disease. Nevertheless, it conceivably contributes to the particularly severe phenotype.

Intravascular ultrasonography of an adolescent boy with a coronary artery aneurysm due to Kawasaki disease.

A 14-year-old boy developed coronary aneurysms during the course of Kawasaki disease. The vessel wall morphology of the coronary arteries was assessed by intravascular ultrasound imaging (IVUS). There was intimal thickening proximal to, within, and distal to a large coronary aneurysm in the left anterior descending coronary artery only 18 months after the acute onset of Kawasaki disease. Intimal thickening without calcification is a new IVUS finding within a persistent coronary aneurysm. It may indicate that the healing process, via cell proliferation is continuing, with the risk of causing a stenosis.

Innominate artery enlargement in congenital arteriovenous fistula with subsequent tracheal compression and stridor.

To demonstrate that airway obstruction may be the first manifestation of a congenital fistula, a female newborn is reported who presented with increasing stridor during her first 23 months of life. Magnetic resonance imaging and Doppler echocardiography revealed an enlarged innominate artery with turbulent flow. Angiography demonstrated an arteriovenous fistula between the right subclavian artery and right subclavian vein and an abnormal origin of the right internal thoracic artery. Bronchoscopy showed a pulsating compression of the middle section of the trachea. Closure and division of the fistula and aortotruncopexy were performed. The stridor disappeared, and there was marked relief of the tracheal obstruction, confirmed by bronchoscopy. It is concluded that, a search for enlarged vessels is necessary in cases of airway obstruction.

Pulmonary sling: morphological findings. Pre- and postoperative course.

Pulmonary sling (PS) is a congenital condition in which the left pulmonary artery (LPA) arises from the right pulmonary artery (RPA), forming a sling around the trachea causing tracheal compression. The incidence is not so rare as initially thought. Symptoms of severe airway obstruction often begin in the newborn or young infant. Echo-colour-Doppler may reveal the PS but emphysema can mask the typical findings. Deviation of fluid-filled lungs may be detected prenatally. Chest radiographs show unusual air distribution, deviation of heart and mediastinum and altered tracheobronchial angles. Bronchography and bronchoscopy demonstrate the high incidence of associated tracheal anomalies such as cartilagenous rings and long tracheal stenosis. Anterior oesophageal indentation is not always seen in the oesophogram. Magnetic resonance imaging (MRI) and computed tomography (CT) reveal the PS, but cautious interpretation is necessary because of different levels of the anomalous LPA. PS and associated cardiovascular malformations can be clearly detected by angiography. Associated extrathoracic anomalies are common. Early diagnosis and therapy of PS is mandatory and consists of reimplantation of the LPA into the pulmonary trunk and division of the ligamentum arteriosum. The postoperative course may be cumbersome necessitating bronchological interventions. Tracheal resection may be necessary but restenosis is frequent. A one-stage repair has been proposed in such cases and was successfully done in a few reported cases. Relief of respiratory obstruction is often complete when there are no associated tracheobronchial anomalies. Late postoperative course is favourable but respiratory obstructive attacks may occur with decreasing incidence over time and tracheal growth.

Mulibrey nanism.

Investigation of a 4-year-old boy with 'Russell-Silver-phenotype' led to the relatively rare diagnosis of Mulibrey nanism. Subsequently cardiac investigation confirmed a constrictive pericarditis which is characteristic of this syndrome, although not included in the acronym (muscle, liver, brain, eye). Identification of this syndrome is important for genetic counselling of the parents (25% recurrence risk, McKusick No. 253250).

MRI in pre- and postoperative assessment of tracheal stenosis due to pulmonary artery sling.

OBJECTIVE: To evaluate the potential of MRI in the assessment of tracheal stenosis due to tracheal or vascular malformations, 45 children with severe respiratory distress were examined prospectively during a period of 1 year. Five of these children had tracheal stenosis due to a sling left pulmonary artery (SLPA). MATERIALS AND METHODS: Magnetic resonance examinations of the anesthetized children were performed with a 1.5 T Siemens MR imager using electrocardiographically gated T1-weighted SE sequences in transverse and sagittal slice orientations. Slice thickness was 3 mm and each sequence was repeated after shifting the slice position by 1 mm. Monitoring during the examinations included ECG, oscillatory blood pressure, respiratory rate, and oxygen concentration. Magnetic resonance findings were compared with esophagography, selective pulmonary angiography, bronchoscopy, Doppler sonography, and surgery. All examinations were repeated after surgical therapy to assess the improvement in tracheal stenoses and the patency of the ligated and reimplanted left pulmonary arteries. RESULTS: Magnetic resonance imaging clearly revealed the course of the SLPA and its topographic relationship to the trachea as well as the coexistence of cardiovascular and tracheobronchial or esophageal malformations. The degree and length of tracheal stenoses, which were measured in the pre- and postoperative axial slices and graphically displayed, as well as the angles of the right and left main stem bronchi, could be accurately determined. CONCLUSION: Magnetic resonance imaging in combination with bronchoscopy yielded the necessary and sufficient information for diagnosis and aided the surgeon in planning operative strategy and in postoperative follow-up.

Combination of high-performance liquid chromatography and radioimmunoassay for the measurement of urodilatin and alpha-hANP in the urine of healthy males.

Urodilatin (ANP-(95-126)), a natriuretic peptide in urine, and alpha-hANP (ANP-(99-126)) are crossreactive in the radioimmunoassay of alpha-hANP (ANP-RIA). We therefore developed a method to separate physiological amounts of urodilatin and alpha-hANP in urine by high-performance liquid chromatography (HPLC) followed by ANP-RIA of the separated fractions. We studied urine samples of 10 healthy adult males with a plasma alpha-hANP level of 41 +/- 21 pg/ml (mean +/- SD) and a total urinary ANP-RIA reactivity of 40 +/- 21 pg/ml. In all urine samples we found three peaks of ANP-RIA reactivity, the first one coeluting with synthetic urodilatin, the second one with the retention time of alpha-hANP and a late eluting ANP-RIA-reactive peak, possibly containing degradation products. The ratio of urodilatin/alpha-hANP was 0.77 +/- 0.17.

Deviated trachea in hypoplasia and aplasia of the right lung: airway obstruction and its release by aortopexy.

Three cases of male infants with hypoplasia and aplasia of the right lung and dextrocardia are reported. The infants developed increasing obstructive respiratory distress in the first 4 months of life. In all three cases, there was an opaque right hemithorax with overinflation of the left lung, a posterior deviation of the trachea with pulsatile stenosis, and a posteriorly located aortic arch. Hypoplasia (two cases) or aplasia (one case) of the right pulmonary artery and an absence or a remnant of the right main bronchus were also observed. Associated malformations were esophageal atresia with an abnormal high pouch of the proximal esophagus in case 1, and hypertelorismus syndrome in case 2. Because of severe respiratory distress in all three patients, an aortopexy was performed at the ages of 5 months (one infant) and 10 months (two infants). The obstructive respiratory signs disappeared postoperatively in the following weeks. It has been observed that tracheal stenosis in aplasia or hypoplasia of the right lung may be caused by the dislocated aortic arch. An aortopexy can release the airway compression in such cases. Because of associated malformations, a careful evaluation of the airway and vessels is recommended.

Stroke volume and left ventricular output in preterm infants with patent ductus arteriosus.

To assess the effect of patent ductus arteriosus (PDA) on left ventricular output (LVO) we studied stroke volume (SV), LVO, and heart rate (HR) in 21 very low birth wt preterm neonates with clinically symptomatic PDA before and after surgical ligation. Six additional infants were also studied before PDA with left-to-right shunt was detectable by the pulsed Doppler technique. Gestational age (median and range) was 28 (24-32) wk. SV was measured by duplex Doppler and M-mode echocardiography, and LVO was calculated as product of SV and HR. LVO was 419 (305-562) mL/min/kg during symptomatic PDA. It decreased to 246 (191-292) mL/min/kg after ligation (n = 21, p less than 0.001). SV was 2.69 (1.98-4.10) mL/kg during symptomatic PDA decreasing to 1.63 (1.22-1.98) mL/kg after ductal closure (n = 21, p less than 0.001). HR did not change after ductal closure. In the six infants with three examinations, LVO and SV were normal before detectable ductal left-to-right shunt and after ligation, but LVO was increased by 59.5 +/- 23% (mean +/- SD) (p less than 0.05), and SV by 60 +/- 32% (p less than 0.05) during symptomatic PDA. In conclusion, preterm neonates with RDS, requiring mechanical ventilation, increased LVO during symptomatic PDA by increasing their SV, and not by changing their HR.

[Echocardiography determination of the diameter of the heart and great vessels near the heart and their quotients in the newborn infant and infant]. / Echokardiographische Bestimmung von Durchmessern des Herzens und der herznahen grossen Gefässe und ihrer Quotienten beim Neugeborenen und Säugling.

110 infants aged from one to 384 days without cardiovascular diseases were examined by two-dimensional echocardiography. Their body weights were 2.4 to 10 kg. Using mechanical, angular scanheads of 7.5 and 5.0 MHz, the parasternal long and short axes views, the apical long axis view, the suprasternal long and short axes views and the subxiphoidal position was searched. Long axis and short axis of the left ventricle were measured at end-diastole and at end-systole. Aorta, pulmonary artery trunk, left and right pulmonary arteries and the roots of both coronary arteries were measured off-line at end-diastole. To confirm the measurements a) vertical and horizontal diameters of orthogonal transected vessels were measured, b) some vessel diameters were measured in different views and c) 10 infants were examined by two independent observers. The result of this inter-observer examination had an agreement of 77% in the 370 measurements and an inter-observer variability of 2.4%. The measured diameters were linearily related to body weight and BSA in this age group. Also, the calculated areas and volumes of the left ventricle related linearily to body weight and BSA. To simplify the estimation of left ventricular volume a formula was derived id est: Volume of left ventricle = 9.15 x greatest short axis x greatest long axis -20. The following quotients are independent from age, body weight, height, and BSA: Pulmonary artery root/aortic root, pulmonary artery bifurcation/aortic root, pulmonary artery bifurcation/-root, left atrium/aortic root.(ABSTRACT TRUNCATED AT 250 WORDS)

Increased plasma cyclic guanosine monophosphate concentrations in children with high levels of circulating atrial natriuretic peptide.

Simultaneous measurements of plasma atrial natriuretic peptide (ANP) and cyclic guanosine monophosphate (GMP) concentrations were performed in children with various forms of cardiac diseases (n = 22) and in control children (n = 29). In healthy children, plasma ANP and cyclic GMP levels ranged between 2.4 and 98.0 (mean 45.8) pg/mL and 0.2 to 2.8 (mean 1.40) pmol/mL, respectively. In children with cardiac diseases, plasma ANP (26.0 to 499.7 [mean 188.7] pg/mL) and cyclic GMP (0.2 to 6.0 [mean 2.9] pmol/mL) levels were significantly higher than in control children (both P less than .0001). There was a linear correlation between the two values in children with cardiac diseases (P less than .01). Because the effects of ANP to target tissues are mediated by cyclic GMP, cyclic GMP appears to be a marker for the cellular responses to ANP. The increased cyclic GMP levels in children with cardiac diseases indicate that ANP exerts its effects on target organs also in states of chronically enhanced ANP levels.

Comparison of plasma atrial natriuretic peptide levels in healthy children from birth to adolescence and in children with cardiac diseases.

An age-related dependence of plasma ANP levels was studied in 163 healthy children (94 boys, 69 girls) between the ages of day 1 and 16 yr. In neonates during the first 2-4 days of life, significantly higher plasma ANP plasma levels (range 129-356 pg/ml, mean 227) were found compared with older infants and children (p less than 0.001). Beyond the neonatal period through adolescence no significant difference in ANP concentrations could be found between the various age groups. Plasma ANP levels ranged between 2 and 109 pg/ml (mean 47) for all age groups after the newborn period. ANP levels were also determined in 15 adult volunteers and in arterial and venous cord blood of 16 healthy newborns, and concentrations were similar to those found in children. In addition, plasma ANP levels were measured in 40 children with various cardiac diseases; 22 of 40 patients exhibited ANP levels above the upper normal range seen in control children. Of these 22 patients all except two children revealed clinical signs of heart failure. In contrast 15 of 17 children without heart failure showed plasma ANP levels within the range of control children. ANP plasma levels ranged between 93 and 967 pg/ml (mean 284) in patients with heart failure and between 15 and 118 pg/ml (mean 57) in patients without heart failure, respectively. Increased ANP levels in neonates and cardiac patients may result from increased atrial distention and reflect a compensatory mechanism to improve cardiac function by reducing pre- and afterload.

Heart rate and systolic time intervals in healthy newborn infants: longitudinal study.

To determine the influence of heart rate (HR) on systolic time intervals (STI) in neonates, serial measurements of right ventricular (RVSTI) and left ventricular systolic time intervals (LVSTI) were made on 30 healthy term newborn infants at age 4-8 h, 24-30 h, eight days, and four weeks. STI was related to HR and age. Age-related changes were similar to previously reported results. The preejection periods (RPEP and LPEP) significantly shortened with increasing age, whereas the right and left ventricular ejection times (RVET and LVET) were unrelated to age. RPEP was unrelated to HR, but tended to be prolonged in restless infants. With increasing HR, RVET decreased and RPEP/RVET increased in all age groups, but less at four weeks. A rise in HR of 50/min resulted in an increase of RPEP/RVET by 26% of the mean value at age 4-8 h and by 20% at four weeks. In 14 infants, RVSTI was recorded during a change in HR. In all these infants, RPEP and RPEP/RVET increased with increasing HR. We conclude that HR-related changes of RVSTI in neonates are different from those in older subjects. It should be considered that in neonates elevated values of RPEP/RVET, suggesting increased pulmonary vascular resistance, may be caused by high HR and unrest.

[Limited indications for glycoside therapy in pediatrics?]. / Eingeschränkte Indikation zur Glykosidtherapie in der Pädiatrie?

Owing to its positive inotropic action, digitalis is indicated in congestive heart failure; because of its effect on AV conduction it can also be used in arrhythmias. However the nature of the dysrhythmia and the underlying causes of congestive heart failure and arrhythmia need to be further differentiated. Any underlying disease (e.g. renal failure) must be treated primarily. Also, the value of inotropic agents in obstructive lesions needs to be considered. In cardiac arrhythmias digitalis can elicit potentially dangerous arrhythmias owing to AV block. Shortening of the refractory period of "bypass tracts" and by changing automaticity in autonomic focus atrial tachycardia. The possibility of interactions with such commonly used antiarrhythmic drugs as quinidine and amiodarone must be considered. All patients receiving digitalis should be carefully followed and monitored using physical examination, ECG, echocardiographic assessments and digitalis blood level determinations.

Innominate artery compression of the trachea in infancy and childhood: is surgical therapy justified?

We reviewed innominate artery compression of the trachea in 10 medically treated patients (group I) and 6 children who underwent innominate arteriopexy (group II). The symptoms were as follows: (1) stridor (80% in group I, and 66% in group II), (2) recurrent bronchopulmonary infections (40% in group I, 66% in group II) and (3) apneic attacks (10% in group I and 100% in group II). Diagnosis was made in all cases by tracheobronchoscopy . It revealed severe tracheal stenosis (narrowing more than 2 thirds) in all children treated by surgery. In group I the tracheal stenosis was mild (narrowing less than one third) in 5 cases, moderate (narrowing from one third to 2 thirds) in 4 cases and severe in only one case. The indication for surgery was based on a history of apneic attacks. In this study innominate arteriopexy has proven to be a reliable and low risk procedure which relieved reflex apnea and recurrent bronchopulmonary infections in all 6 children operated upon.