"Natural history" des frühkindlichen Wachstums

Early human growth is characterized by wide intra-individual variability in body size. In terms of height, one third of children cross the one-percentile and another third, the two-percentile threshold during the first 2 years of life. The intra-individual variability in weight and head circumference is even greater. This instability of early growth is due partly to the change from the conditions of prenatal to postnatal life and partly to the adaptation of the infant's organism to the genetic endowment from the parents (expressed in parental height). The clinical significance (reliability, validity) of anthropometric measurements is discussed.     

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. This finding and the normal ocular findings in the insertion carrier father show that haplotype insufficiency can cause the Rieger eye malformation.     

Penile incarceration with metal rings

Contribution of a case report of penial incarceration following placement of three thick metal rings and its resolution. Literature review.     

Longitudinal monthly body measurements from 1 to 12 months of age: a study by practitioners for practitioners

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. In 92% of the subjects, growth velocity was at least once outside the reference range (3rd–97th percentile). For weight increments, the corresponding proportion was 87%. Conclusions The data indicate that current standards for the 1st year of life for the Zurich area might no longer be appropriate and need to be updated. The currently used velocity percentiles based on 3-monthly measurements are not suitable to assess individual height and weight increments calculated from monthly measurements. Received: 9 June 1997 / Accepted in revised form: 21 November 1997     

Contribution of growth phases to adult size

Based on the data of the First Zurich Longitudinal Growth Study we investigate how interindividual differences in adult size arise in the variables leg height, sitting height and standing height, arm length, biiliac width and bihumeral width. Specifically, we are also interested in the question of whether across sexes and variables the same growth phases and the same parameters are predictive for achieving a certain adult size. A rather complex pattern emerges, demonstrating that regulation of growth is not the same for boys and girls and moreover is not the same for the six anthropometric variables studied. Prepubertal growth is characterized by its intensity (average velocity) and by its duration. Whereas duration has by itself no appreciable influence on adult size, prepubertal intensity determines adult size to a high degree across all variables and both sexes. The intensity of prepubertal growth determines adult size to a larger degree for boys than for girls. For a given size at the end of the prepubertal period, a small duration enhances the chance of obtaining a large adult size. Compared with prepubertal growth, the amount of variance of adult size explained is small for pubertal parameters, and - with respect to linear measures - significant for girls only. A small duration of prepubertal growth is in the following mainly compensated by a stronger pubertal spurt (PS), to a varying degree across variables. The overall picture which emerges indicates that sitting height - and to a lesser extent bihumeral width - develop in a more irregular fashion than the variables biiliac width and leg height.     

Validation of Musculoskeletal Ultrasound in the Assessment of Experimental Gout Synovitis

The objective of this study was to validate musculoskeletal ultrasound (US) in a rabbit model of acute gout. Acute gout was induced by intra-articular injection of monosodium urate (MSU) crystals in 10 rabbits; the 3 controls received vehicle. Rabbit knees were assessed by B-mode and power Doppler (PD) US 24 and 72?h after injections. After 72?h, all rabbits were euthanized. US discriminated between the MSU-injected and control groups with respect to the different inflammatory findings at both at 24 and 72?h and for MSU crystal-related findings after 24?h of injection. US synovial thickening, intra-synovial power Doppler signal and global joint distension significantly correlated with the synovial global histopathological score (r?=?0.47, p?=?0.0188), tissue vascularization measured by CD31 immunohistochemical-positive staining (r?=?0.46, p?=?0.0172) and tissue levels of interleukin-1β (r?=?0.53, p?=?0.0078), respectively. US is a valid method for assessment of synovial inflammation in experimental gouty arthritis in rabbits.     

Fibrin generated in the synovial fluid activates intimal cells from their apical surface: a sequential morphological study in antigen-induced arthritis

OBJECTIVE: Fibrin deposits adhered to the synovial surface are typical of rheumatoid joints. Since fibrin appears to have a role in arthritis perpetuation our aim was to investigate how these deposits are formed and the consequences of their adhesion to the tissue. METHODS: The appearance of fibrin aggregates either free in the synovial fluid or attached to the membrane was studied in rabbits with antigen-induced arthritis by histological techniques at different time points from challenge. In the fixed synovial membranes areas of fibrin-bound synovium were evaluated by qualitative variables to obtain a sequential profile of morphological changes. RESULTS: Fibrin aggregates appeared from the initial stages of the disease in the synovial effusion. Later on, they were localized on the synovial surface and progressive changes were noted at the fibrin-tissue interface, ending with the invasion of the aggregates by synovial cells and their incorporation into the tissue. CONCLUSION: Fibrin aggregates generated inside the joint cavity may constitute a source of activation and acquisition of invasiveness of the synovial fibroblasts, a process to explore within the perpetuating mechanisms of rheumatoid arthritis.     

Growth processes leading to a large or small adult size

Background: The way in which a large size in anthropometric variables is achieved is a longstanding problem, since the pubertal spurt shows statistically and clinically little association with adult size (mostly studied for height). By analysing longitudinal growth of groups of subjects with a large or a small adult size separately for height, leg and sitting height, and bihumeral and biiliac width, we studied this problem in some detail. Of interest are growth patterns specific for these variables and for boys or girls.

Methods: The data consist of 120 boys and 112 girls followed longitudinally from 4 weeks until adulthood. Statistically, structural average velocity curves were computed for each variable and each subgroup separately for comparison. This velocity curve represents the average intensity and the average tempo of growth. Since the area under the velocity curve is adult size, differences in the growth process can be visualized.

Results: Both sexes show similar patterns in reaching a small or large adult size. The different variables, however, show marked differences. Only for legs is the pubertal spurt delayed for the large groups (with additional gains in prepubertal years). For sitting height and biiliac width, a slightly elevated velocity all along development (after 2 years) leads to a larger size and for bihumeral width the size of the pubertal peak is decisive.

Conclusions: The steering of growth to a certain target size is qualitatively similar for boys and girls, but quite different for different anthropometric variables. This leads to questions about endocrinological control for various parts of the body and differential bone growth in development.

Hintergrund: Die Art, in der anthropometrische Variable die Erwachsenengröße erreichen, ist ein seit langer Zeit bestehendes Problem, da der puberale Spurt statistisch und klinisch nur geringe Assoziationen zur Erwachsenengröße zeigt (am häufigsten untersucht für die Körperhöhe). Wir untersuchten dieses Problem detailliert durch die Analyse des longitudinalen Wachstums von Probandengruppen mit großer oder geringer Erwachsenengröße jeweils für Körperhöhe, Beinlänge, Sitzhöhe sowie Ellbogenbreite und Beckenbreite. Dabei waren die Wachstumsmuster speziell für diese Variablen für Jungen und Mädchen von Interesse. Methodik: Die Daten stammen von 120 Jungen und 112 Mädchen, die von der vierten Lebenswoche bis zum Erwachsenenalter longitudinal untersucht wurden. Statistisch wurden die strukturellen mittleren Kurven der Wachstumsgeschwindigkeit für jede Variable und zum Vergleich getrennt für jede Untergruppe berechnet. Diese Geschwindigkeitskurven stellen die mittlere Intensität und das mittlere Tempo des Wachstums dar. Da die Fläche unter der Geschwindigkeitskurve die adulte Größe darstellt, können auf diese Weise Unterschiede im Wachstumsprozess verdeutlicht werden. Ergebnisse: Beide Geschlechter zeigen ähnliche Muster hinsichtlich des Erreichens einer geringen oder großen Erwachsenengröße. Die einzelnen Variablen weisen jedoch erhebliche Unterschiede auf. Nur bei der Beinlänge ist der puberale Wachstumsspurt in der Gruppe mit großer Endgröße verzögert (mit einem zusätzlichen Zuwachs in den präpuberalen Jahren). Bei der Sitzhöhe und der Beckenbreite führt eine geringfügig gesteigerte Geschwindigkeit während der gesamten Entwicklung (nach dem zweiten Lebensjahr) zu einer größeren Erwachsenengröße und bei der Ellbogenbreite ist die Höhe des puberalen Wachstumsgipfels ausschlaggebend. Schlussfolgerungen: Die Steuerung des Wachstums hin zu einer bestimmten Zielgröße ist für Jungen und Mädchen qualitativ ähnlich, dagegen ziemlich unterschiedlich für verschiedene anthropometrische Variable. Daraus ergeben sich Fragen bezüglich der endokrinologischen Steuerung des Wachstums verschiedener Körperteile und eines unterschiedlichen Knochenwachstums während der Entwicklung.

Arrière plan: Considérant qu'il y a peu d'association statistique et clinique entre la poussée pubertaire et le format adulte (surtout étudié pour la stature), la façon dont de grandes valeurs des dimensions anthropométriques sont atteintes, demeure un problème irrésolu. C'est à cela que s'attache ce travail, en procédant par l'analyse de la croissance longitudinale d'un groupe de sujets de format corporel adulte soit petit soit grand, pour lesquels sont considérées séparément, les dimensions de la stature, de la jambe, de la taille-assis, de la largeur bihumérale et de la largeur biiliaque. En particulier, s'est-on intéressé aux modalités spécifiques de croissance de ces variables chez les garçons et chez les filles. Méthodes: Les données portent sur 120 garçons et 112 filles suivis longitudinalement de l'âge de quatre semaines jusqu'à l'état adulte. Des courbes statistiques de vélocitéstructurale moyenne ont été établies pour comparaison dans chaque sous-groupe séparément et pour chaque variable. Cette courbe de vélocité représente l'intensité moyenne et le tempo moyen de la croissance. L'aire située au-dessous de la courbe étant la taille adulte, des différences dans le processus de croissance peuvent ainsi être observées. Résultats: Les deux sexes montrent des modalités similaires dans l'atteinte de la taille adulte, qu'elle soit petite ou grande. Les diverses variables montrent cependant des différences marquées. La poussée pubertaire n'est retardée que pour les jambes, dans le groupe de grand format (avec des gains additionnels pendant la période prépubertaire). Pour la taille-assis et la largeur biiliaque, une vélocité modérément élevée pendant l'ensemble du développement (après deux ans) conduit à une taille plus grande; pour la largeur bihumérale, on observe que l'importance du pic pubertaire est décisive. Conclusions: le déroulement de la croissance jusqu'à atteindre une dimension projetée est qualitativement semblable pour les garçons et pour les filles, mais très différent suivant les variables anthropométriques concernées. Ceci conduit à s'interroger sur le contrôle endocrinologique de diverses parties du corps, ainsi que sur la croissance osseuse différentielle pendant le développement.