Megacystis-microcolon-intestinal hypoperistalsis syndrome (MMIHS) in siblings: case report and review of the literature.

PURPOSE: Report of MMIHS in siblings with emphasis on diagnostic aspects in antenatal scanning and genetics. METHOD: Two case reports and review of the literature RESULTS: The firstborn child of this family was a female infant with a postnatal diagnosis of MMIHS. In the consecutive pregnancy frequent antenatal scans were performed, which showed normal fetal anatomy until 19 weeks' gestation. The pregnancy was carried on and at 36 weeks' gestation dilatation of the renal collecting system and dilated loops of bowel were seen, suggestive of MMIHS. CONCLUSION: Prenatal diagnosis of MMIHS remains difficult. Further research into the genetics of this condition is necessary and would be an important tool in counselling parents with an affected child in view of the chances having an affected child at subsequent pregnancies. A multi-centre collection of a genetic pool from parents may be helpful for future research.

Long-term dilatation of caustic strictures of the oesophagus.

Caustic strictures of the oesophagus (CSO) in children are managed in different ways. Our study looks into the results of long-term dilatation of such strictures. Of 109 children admitted to our hospital with caustic ingestion, 10 developed strictures. The dilatations were carried out for periods varying from 9 months to 4 years. While 3 patients needed surgical treatment, 7 did not and did well. The oesophageal perforation rate with dilatations was only 0.47% (2 perforations from a total of 424 dilatations). Long-term dilatations are successful in managing a majority of CSO in children and are associated with minimal complications.

Congenital cystic adenomatoid malformation and extralobar sequestration occurring independently in the ipsilateral hemithorax.

We report a case of congenital cystic adenomatoid malformation (CCAM) and extralobar pulmonary sequestration (EPS) occurring independently in the ipsilateral hemithorax. A literature search using Medline, Winspirs 2.0, found 14 previously reported cases of CCAM within an EPS. There are no reports of each form of congenital pulmonary abnormality occurring separately in the same patient.

Pleuropulmonary blastoma: four cases.

Pleuropulmonary blastoma (PPB) is a rare malignant neoplasm affecting children. A retrospective review was carried out of patients diagnosed as having PPB at one institute over a period of 16 years. The presentation, diagnosis, treatment, and family history were studied. PPB usually presents with symptoms and signs of respiratory tract infection, and the diagnosis may be delayed. There are no distinguishing clinical features or imaging studies. The diagnosis is made on histologic examination of tumour material and is sometimes difficult to differentiate from benign cystic lung lesions. The treatment is primarily complete excision of the tumour, followed in some cases by intense chemotherapy. PPB is a strong predictor of the presence of tumours in close relatives. Four patients treated at our institute are discussed along with a review of the literature.

Gartner's duct cyst with unilateral renal dysplasia presenting as an introital mass in a new born.

A persistent Gartner's duct cyst associated with ipsilateral renal agenesis or dysplasia is rare. A vaginal cyst at the introitus as the presenting complaint is very rare, and has not been previously described in a neonate. Sepsis despite the presence of renal agenesis, or non- or poorly functioning renal tissue, is an indication for ureterectomy or nephroureterectomy on the affected side.

Effect of yellow filters on pupil size.

The purpose of this study was to investigate the size of the pupil while viewing through yellow and neutral density (ND) filters. Previous studies have shown that the pupil of the human eye is relatively more sensitive to short wavelengths than indicated by the photopic luminosity curve. We first measured the consensual horizontal pupil diameter of 11 observers as a function of luminance (0.144 to 18,150 cd/m2) to establish the luminance-response function for each observer. We then measured the pupil diameter while the observer viewed through a Corning Photochromic Filter (CPF) 550 lens and two ND filters (ND 0.5 and 1.0). The pupil diameters obtained with each filter were compared to the diameters at an equivalent luminance based upon each observer's luminance-response function. Our results show that the pupil diameter is larger with the yellow lens than when viewing a broad spectrum white field at an equivalent luminance. We speculate that our results may explain some, but not all, of the well-known subjective brightness enhancement that occurs when viewing through yellow filters.

Multiple organ malrotation syndrome with duodenal atresia: a case report.

Duodenal atresia (DA) can be associated with multiple anomalies. Multiple organ malrotation syndrome (MOMS) involves laevoversion of the liver and gall bladder and dextroversion of the stomach and spleen. We report a case of MOMS with DA. Embryologic aspects, investigation, and treatment are discussed.

Malrotation in newborns following antenatal diagnosis of intra-abdominal cyst.

Two newborn girls had malrotation, small bowel in a subdiaphragmatic location on the right and leftward displacement of the liver. On antenatal scans, each had been diagnosed as having a large intra-abdominal cyst, but this had disappeared in both by the time of delivery. Both infants were asymptomatic at birth. One baby had a wrinkled abdominal wall, which is typically a component of prune belly syndrome. Both babies underwent Ladd procedure for their malrotation. In one, plate-like calcification over the hepatic capsule was the only residue of the previous cyst. In the other, mesenchymal hamartoma of the liver was diagnosed from histology of a collapsed adherent cyst.

Post circumcision meatal stenosis: 12 years' experience.

AIMS: To study the presentation of meatal stenosis as a complication of circumcision done in boys of neonatal or nappy age. METHODS: A total of 50 patients were studied. These patients had meatotomy performed to treat meatal stenosis. All the patients had circumcision during the neonatal period or in the nappy age. Meatal stenosis was defined as change in the appearance of the delicate lips of the urinary meatus, with loss of elliptical shape to a circular shape because of fibrosis or scarring, with visually apparent narrowing. Patients with this appearance and no symptoms, but who had presented with a hernia, undescended testes or some other unassociated condition and had meatotomy were for the purpose of this study classed as the incidental group. Patients who were symptomatic and had the meatal stenosis as defined above were classed as the symptomatic group. RESULTS: Sixteen patients (total n = 50) had the diagnosis of meatal stenosis made incidentally. Thirty four patients, (68% of the total treated by meatotomy) presented to the clinic, being symptomatic due to meatal stenosis. The median age at presentation of the symptomatic group was 48 months (range 3 months-13 years) following circumcision. In all the symptomatic patients meatotomy alleviated the symptoms. All the operated patients were seen between one to three months following the operation and discharged. There were no late presentations with recurrence of meatal stenosis or complications of the treatment. CONCLUSION: Meatal stenosis is an under recognised complication of circumcision done in neonatal and nappy aged boys. Symptomatic presentation from meatal stenosis can be very late.

Is a normally functioning gastrointestinal tract necessary for normal growth in late gestation?

It is known that neonates with congenital abnormalities of the intestine tend to be growth-retarded. We wished to explore the hypothesis that normal fetal gut function is needed for normal growth in late gestation. If this is true, then different populations of babies with different congenital gut abnormalities would be expected to have similar impairments of growth and be small at birth. This growth retardation would be more marked in term than in preterm babies and would be independent of other congenital anomalies. To test these hypotheses, we examined 43 babies born with gastroschisis (GS) in Auckland, New Zealand; 69 babies born with GS in Birmingham, England; and 60 babies born with intestinal atresia (IA) in Auckland. For Auckland babies with GS, the mean weight standard deviation score (WSDS) (i.e., birth weight relative to the mean birth weight for gestation) for term babies was lower than that for preterm babies (-0.932+/-0.180 vs -0.064+/-0.237, P=0.014). This was also true for Birmingham babies with GS (-0.991+/-0.193 vs -0.36 +/-0.153, P=0.028). For babies with IA, the mean WSDS for term babies was lower than that for preterm babies (-0.627+/-0.266 vs 0. 057+/-0.211, P=0.034). There was no significant difference between the mean WSDS of babies with and without major congenital abnormalities (-0.402+/-0.201 vs -0.271, P=0.70). Our results demonstrate that term babies born with GS are significantly growth-retarded compared with premature babies born with GS. Term babies born with a proximal IA are also growth-retarded. This strongly suggests that in late gestation, the normal growth is dependent on a normally functioning gastrointestinal tract that allows exposure of the proximal intestinal mucosa to ingested amniotic fluid.

Colo-colic intussusception in Henoch-Schönlein purpura.

Intussusception is the commonest surgical complication of Henoch-Sch onlein purpura (HSP), occurring in 1.3%-13.6% of affected children. Colo-colic intussusception is a rare occurrence in HSP, with only three other reported cases. Intussusception in HSP almost always originates in the ileum (90%) or jejunum (7%), and more than one-half of cases (58.4%) are confined to the small bowel. This is in contrast to idiopathic intussusception, where the majority (80%-90%) are ileo-colic and can be diagnosed and reduced by contrast enema.

Gastroschisis: can the morbidity be avoided?

Although the mortality associated with gastroschisis (GS) has fallen markedly over recent years, postoperative morbidity and the incidence of complications remain high. Many different factors may contribute to this morbidity; the aim of this study was to determine which factors contributed most. Measures of morbidity used were time to full oral feeding (FOF), time on parenteral nutrition (PN), age at discharge, and incidence of complications. Between 1969 and 1995, 44 neonates with GS were treated; there were 6 deaths. The average initial temperature of the patients who died was 34.6 degrees C compared with 36.0 degrees C for the rest of the group (P = 0.02). Staged repair and prematurity were associated with increased time to FOF, time on PN, and age at discharge (P < 0.001). When the corrected post-term age was used, the difference between preterm and term babies was no longer significant. Mode of delivery did not influence any measure of morbidity. Seventeen patients (46%) had complications related to PN administration and 18 (43%) developed complications related to their surgery. There were no significant differences in these measures of morbidity when comparing patients born in the first half of the study period with those born in the last half. Multivariate analysis revealed that time to FOF, time on PN, and age at discharge were all strongly independently associated with staged repair and with the presence of complications of PN (all F > 7.2 and P < 0.01). Mode of delivery, gestational age, admission temperature, the need for postoperative ventilation, and complications of surgery were not independently associated with any of the measures of morbidity examined. Our data suggest that term delivery and primary closure of the defect are likely to minimise the morbidity experienced by infants with GS.

Are babies with gastroschisis small for gestational age?

A large proportion of babies with gastroschisis (GS) have low birth weights. It is not clear, however, whether only certain subgroups or the whole population of babies with GS have low birth weights. The aim of this study was to ascertain if the birth weights of babies with GS are significantly lower than those of the general population and to determine if the birth weights of babies with GS from two different populations were significantly different. From 1969 to 1995, 44 babies with GS were treated at Auckland Children's Hospital, New Zealand. From 1980 to 1993, 69 babies were treated at Birmingham Children's Hospital, England. For each group, the mean birth weight relative to the mean birth weight for gestation (WtStdev) was significantly different from zero (Auckland = -0.806, Birmingham = -0.762, P < 0.001, one-sample analysis). The mean WtStdev scores from each centre were not significantly different from each other. Our data demonstrate that the birth weights of babies with GS are significantly lower than those of the general population and are similar in different populations. These findings support the notion that a normally functioning intestinal tract is essential for normal fetal growth.

Artificial cell surface constructs for studying receptor-ligand contributions to lymphocyte activation.

T-cell activation involves interactions between a number of different receptors on the T-cell with their respective ligands on the antigen presenting cell. One approach to studying the contributions of the individual receptors is the use of purified ligands, alone or in combination, to stimulate the cells. However, effective T-cell recognition requires that the ligands be displayed on a surface having dimensions similar to those of a cell. Methods are described for the rapid and efficient immobilization of purified membrane proteins, including class I MHC proteins, B7.1 and ICAM-1, on 5 microm diameter latex microspheres in a manner that preserves biological activity. Non-membrane proteins, such as anti-receptor antibodies, can be immobilized in a similar manner and can be coimmobilized along with membrane proteins. These artificial cell surface constructs can be handled in the same way as cells, including characterization by flow cytometry using antibodies specific for the immobilized proteins and stimulation of T-cell responses. The density of ligand on the surface of the microspheres can be easily varied and controlled and multiple proteins can be immobilized on the same surface. Thus, the described methods provide a great deal of flexibility in assessing the contributions of the various receptors to T-cell signaling and activation, and should be applicable to the study of other cell-cell interactions.

Antenatal diagnosis of urinary tract abnormalities by ultrasonography after 28 weeks' gestation: incidence and outcome.

OBJECTIVE: The objective was to establish the likelihood that antenatal upper urinary tract dilatation identified after 28 weeks of gestation will progress to significant postnatal uropathy. STUDY DESIGN: In 5 years, 3856 fetuses had ultrasonography after 28 weeks of gestation when the mothers were first seen in advanced pregnancy for delivery appointments or for other obstetric indications. Fetuses with urinary tract anomalies had ultrasonographic surveillance after 6 days and 6 weeks of life with further evaluation as necessary. RESULTS: Renal tract anomalies were identified in 313 fetuses, and 55 infants had significant renal tract abnormalities. There were 7 deaths; 2 infants were anephric and 5 with hydronephrosis had lethal congenital abnormalities. Dilatation of the upper urinary tract was identified in 7.7% of the fetuses (298/3856) but was transient in 216 of them (72%). Follow-up of children with transient renal pelvis dilatation found only one with a history of urinary tract infection. Obstruction occurred in 23 infants (6.0/1000) and 16 required surgical correction. Vesicoureteric reflux was identified in 14 infants (3.6/1000) and resolved by age 2 years in 64%. Unilateral multicystic renal dysplasia occurred in 8 and posterior urethral valves occurred in 3 infants. CONCLUSION: Antenatal ultrasonography after 28 weeks' gestation identified significant renal tract abnormalities with a frequency of 14.3 per 1000 births, permitting early treatment of the asymptomatic newborn and reducing later renal damage.

Variables affecting the spectral transmittance of light through porcelain veneer samples.

The spectral transmittance of porcelain laminate veneers was measured at three different thicknesses (0.50, 0.75, and 1 mm) and three different opacities (25%, 75%, and 100%). The results indicated that the thickness of the porcelain veneer was the primary factor affecting light transmission and not the opacity. The measured values of transmittance were then used to estimate the setting time for light-cured luting agents of a porcelain veneer.

Axial chromatic aberration of the human eye: frequency or wavelength?

The axial chromatic aberration of the human eye is nearly perfectly described by a linear function when expressed in terms of frequency rather than wavelength. Since linear functions are simple to work with and more readily understood, there are advantages for the expression of these data in terms of frequency.