Short stature, myopia, severe developmental delay, and peculiar facial appearance in two brothers: a new syndrome?

We report on 2 brothers with short stature, microcephaly, myopia, retarded osseous maturation, severe developmental delay, and minor anomalies including temporal narrowing, periorbital fullness, full cheeks in infancy, and protruding lower lip. Both brothers and their parents had normal chromosomes. Fluorescence in situ hybridization with probes from all (sub-)telomeric chromosomal regions excluded a structural rearrangement involving telomeric segments.

An analysis of variance of the pubertal and midgrowth spurts for length and width.

Using data from the first Zurich Longitudinal Growth Study characteristics of the growth of six variables--bihumeral width, biiliac width, standing height, sitting height, leg height and arm length--are studied. The main interest is in differences between boys and girls, and across variables and in particular in whether there are sex differences that are specific for some variables. For each child and variable, individual velocity and acceleration curves are estimated using a kernal smoother.

Development of bladder and bowel control: significance of prematurity, perinatal risk factors, psychomotor development and gender.

Unlabelled: Development of bladder and bowel control from 6 months to 6 years was investigated in 140 preterm children and a control group of 349 healthy term children. Structured parental interviews and neurodevelopmental assessments were carried out when the child was 1, 3, 6, 9, 12, 18 and 24 months, and at yearly intervals thereafter. Even though preterm children were put on the potty at significantly earlier ages and significantly more frequently than term children, they expressed their need for evacuation and attained day and night bladder and bowel control at the same corrected age as term children.

Angiotensin-converting enzyme is upregulated in the proximal tubules of rats with intense proteinuria.

Persistent proteinuria is considered a deleterious prognostic factor in most progressive renal diseases. However, the mechanisms by which proteinuria induces renal damage remain undetermined. Since proximal tubular cells possess all the machinery to generate angiotensin II (Ang II), we approached the hypothesis that proteinuria could elicit the renal activation of the renin-angiotensin system in a model of intense proteinuria and interstitial nephritis induced by protein overload.

Endothelin-1 expression during early response after antigen challenge in brown-norway rats.

The objective of this study is to investigate if endothelin-1 (ET-1) gene expression changes during the early response phase following antigen challenge. We used sensitized Brown-Norway rats known to develop an early airway response after antigen challenge. After ovalbumin challenge, sensitized rats presented an early response, characterized by an increase in pulmonary pressure (209+/-14.

Renal expression of parathyroid hormone-related protein (PTHrP) and PTH/PTHrP receptor in a rat model of tubulointerstitial damage.

Background: PTHrP, which appears to act as a growth/differentiation factor in a variety of tissues, is present in the kidney; however, its role is unclear.

Methods: The expression of PTHrP and the PTH/PTHrP receptor were investigated by reverse transcription-polymerase chain reaction (RT-PCR) and immunohistochemistry in the remnant kidney of uninephrectomized (UNX) rats after protein overloading [1 g/day of bovine serum albumin (BSA)].

Results: Compared with UNX-control rats, proteinuria in BSA-overloaded animals was detected within the first 24 hours and increased during the entire study period (28 days).

Longitudinal monthly body measurements from 1 to 12 months of age: a study by practitioners for practitioners. Zurich Association of Practicing Paediatricians.

Unlabelled: A longitudinal growth study with monthly measurements during the 1st year of life was conducted by nine paediatricians working in private practice in Zurich. Of 92 children, none was lost to the study and only 32 of 1104 planned visits were missed; the quality of the measurements was comparable to that of a specialised university clinic. Compared to the Zurich Longitudinal Growth Studies, children of this study were considerably heavier and taller.

Bladder control a consequence of maturation: evidence after renal transplantation.

This report contains case studies on three children with early end-stage renal failure due to renal malformation or nephrotic syndrome, but without bladder involvement. All patients became anuric in the second year of life, before having obtained bladder control. They underwent successful cadaveric renal transplantation, having been anuric for almost 2 to 4 years.

Movement quality in preterm infants prior to term.

Quality of spontaneous movement behavior (fluency, spatio-temporal variation and sequencing) was studied from birth to term in high-risk preterm (n = 18), low-risk preterm (n = 18) and term (n = 20) infants. Cranial ultrasonography was performed during the first week of life and the child's general health was considered. The results were as follows: (1) In their first week of life, preterm infants displayed lower scores on all quality parameters when compared to term infants (p < 0.

Multiple congenital anomalies including the Rieger eye malformation in a boy with interstitial deletion of (4) (q25-->q27) secondary to a balanced insertion in his normal father: evidence for haplotype insufficiency causing the Rieger malformation.

A 7 year old boy with minor facial anomalies, the Rieger eye malformation, reduced vision, genital anomalies, and severe mental retardation had deletion of the segment 4q24-->q26. His phenotypically normal father had a balanced insertion of that segment into the distal long arm of chromosome 6: 46,XY,ins(6;4)(q26;q24q26). Microsatellite loci flanking the RIEG gene on 4q25 were deleted giving indirect evidence of deletion of this locus.

Platelet-activating factor stimulates gene expression and synthesis of matrix proteins in cultured rat and human mesangial cells: role of TGF-beta.

Platelet-activating factor (PAF) is a potent inflammatory mediator that participates in the pathogenesis of proteinuria and glomerular damage. However, the role of this lipid in glomerular sclerosis remains unknown. This study examines the effect of PAF on the regulation of extracellular matrix proteins by rat and human mesangial cells.

Quinapril decreases renal endothelin-1 expression and synthesis in a normotensive model of immune-complex nephritis.

Angiotensin-converting enzyme (ACE) inhibitors diminish proteinuria and the progression to renal failure in several experimental models of renal injury. Endothelin-1 (ET-1) possesses potent biological actions on renal vessels and has been considered as a potential mediator of renal damage. Because angiotensin II (Ang II) induces ET-1 synthesis in endothelial and mesangial cells, we hypothesized that some of the beneficial effects of the ACE inhibitors could result from the blockade of ET-1 synthesis.

Endothelin-1 upregulation in the kidney of uninephrectomized spontaneously hypertensive rats and its modification by the angiotensin-converting enzyme inhibitor quinapril.

Endothelin (ET-1) is a potent vasoconstrictor that plays an important role in the control of renal circulation and tubular function. The contribution of this peptide to the pathogenesis of systemic hypertension and renal failure remains largely undefined. In spontaneously hypertensive rats (SHR) uninephrectomized at 20 weeks of age (UNX-SHR) and followed until 45 weeks of age, we determined ET-1 gene expression in renal tissue by reverse transcription-polymerase chain reaction and its localization by in situ hybridization in paraffin-embedded kidney sections.

Differences in movement quality at term among preterm and term infants.

Significant differences in movement quality at term are reported in high-risk preterm (n = 18), low-risk preterm (n = 21) and term (n = 20) infants. Movement quality was judged using 2-minute video collection of general movements; three parameters of movement quality could be assessed reliably in a semiquantitative way: fluency, spatiotemporal variability and sequencing. The parameters fluency and variability correlated highly with each other (r = 0.

Body proportionality in growth-retarded VLBW infants.

The aim of this study was to investigate how intrauterine growth retardation affects body proportions in VLBW infants. The cohort consisted of 135 surviving and 80 deceased preterm infants weighing less than 1250 grams at birth. Gestational age varied between 24 and 36 weeks (mean age 29.

Does a profound change in toilet-training affect development of bowel and bladder control?

A major change in toilet-training was observed in two successive generations. The median onset of toilet-training was postponed by 13 months between the First Zürich Longitudinal Study (320 children born between 1954 and 1956) and the Second Zürich Longitudinal Study (309 children born between 1974 and 1984). Bladder control, both day and night, was not affected, but bowel control was delayed by 16 months, due not to a lack of training, but to the abandonment of maternal control.

Diagnostic and prognostic value of cerebral 31P magnetic resonance spectroscopy in neonates with perinatal asphyxia.

The impact of depressed neonatal cerebral oxidative phosphorylation for diagnosing the severity of perinatal asphyxia was estimated by correlating the concentrations of phosphocreatine (PCr) and ATP as determined by magnetic resonance spectroscopy with the degree of hypoxic-ischemic encephalopathy (HIE) in 23 asphyxiated term neonates. Ten healthy age-matched neonates served as controls. In patients, the mean concentrations +/- SD of PCr and ATP were 0.

An orally active ETA/ETB receptor antagonist ameliorates proteinuria and glomerular lesions in rats with proliferative nephritis.

The proliferation of mesangial cells and the extracellular matrix expansion constitute the most outstanding morphological aspects of the majority of progressive glomerular diseases. In vitro, endothelin-1 (ET-1) is mitogenic for mesangial cells and induces matrix protein synthesis. We studied the possible participation of ET-1 in the pathogenesis of renal damage in a normotensive model of proliferative nephritis.

Glomerular up-regulation of EIIIA and V120 fibronectin isoforms in proliferative immune complex nephritis.

Fibronectin: (FNs) comprise a family of adhesive glycoproteins that are prominent components of mesangial extracellular matrix and accumulate during glomerular injury. By alternative splicing of an unique mRNA precursor, various FN isoforms can be originated. In rat, three regions of the molecule are involved: EIIIA, EIIIB and V.

Effects and interactions of endothelin-1 and angiotensin II on matrix protein expression and synthesis and mesangial cell growth.

Mesangial cell growth and accumulation of extracellular matrix proteins constitute key features of progressive glomerular injury. Endothelin-1 (ET-1) and angiotensin II (Ang II), two potent vasoconstrictor agents, evoke a number of similar responses in mesangial cells. In rat mesangial cells, we compared ET-1 and Ang II effects on matrix protein production and cell proliferation as well as the potential interaction between the two hormones.

ACE inhibition reduces proteinuria, glomerular lesions and extracellular matrix production in a normotensive rat model of immune complex nephritis.

We studied the effect of the angiotensin converting enzyme (ACE) inhibitor, quinapril, on the clinical and morphological lesions of a normotensive model of immune complex nephritis. Untreated rats developed massive nephrotic syndrome, intense cell proliferation and glomerular and tubulointerstitial lesions. In the renal cortex of nephritic rats there was a significant increase in gene expression of TGF-beta 1, fibronectin and collagens, and ACE activity.

Prediction of adult skinfolds and body mass from infancy through adolescence.

In this paper age-to-age correlations for the body mass index and for skinfolds are evaluated for a sample of normal children studied from birth to adulthood. While correlations over larger age spans are modest, they become appreciable from childhood to adolescence and from adolescence to adulthood. Correlations are consistently higher for boys compared to girls, and only for the former does the body mass index correlate better than skinfolds.

[School and child health].

A roundtable discussion involving 2 educators and 4 pediatricians with widely varying experience sounded out the negative (pathogenic) and positive (healthy) influences to which a child is exposed in school and which decisively shape his/her physical, mental and psychic development. Concrete case reports and a systematic compilation of harmful factors show that this institution poses major threats to children's health of which pediatricians should be aware. An important cause of childhood suffering is the discrepancy between the uniform and inflexible institutional structures and the variability of children's needs conditioned by biology and social origin.