J M Wit

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..Feeding disturbances in infants with IGF1 and IGF1R mutations suggest a role of IGF-1 signaling in regulatory brain centers...

..IGFD can also have a digenic or oligogenic origin. The diagnostic yield of genetic testing in children with a height <-2.5 SDS and a serum IGF-1 <-2 appears sufficient to perform genetic tests for known candidate genes...

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..Children with GHR defects, and presumably STAT5B and homozygous IGF1 defects, can be treated with rhlGF-I. Children with IGF1R defects and mild or heterozygous IGF1 defects respond to GH treatment...

..The intervention aims to establish long-term weight reduction and stabilization, reduction of obesity-related health consequences and improvement of self-image by change of lifestyle and learning cognitive behavioral techniques...

..This resulted in guidelines for referral. In this study we evaluate the referral pattern of short stature in primary health care using these guidelines, comparing it with cut-off values mentioned by the WHO...

..However, the effectiveness of slowed growth as a tool for identifying children with CD is unknown. Our aim is to study the diagnostic efficiency of several growth criteria used to detect CD children...

..The aim of our study was to clarify the motives of adolescents and their parents when choosing to participate in a growth-enhancing trial combining growth hormone and puberty-delaying hormone treatment...

..Most studies report stunting in children born very preterm and/or small for gestational age. In this article we study the growth pattern of these children and aim to identify factors associated with postnatal catch-up growth...

..In the present paper we evaluate the diagnostic work-up in secondary health care according to existing consensus guidelines and study the frequency of underlying medical disorders...

..Adenomatous polyposis coli (Apc) is a key controller of beta-catenin turnover by down-regulating intracellular levels of beta-catenin...

..More data on long-term safety have to be collected before the combination of GH and GnRHa in children with idiopathic short stature should be considered for clinical use outside clinical trials...

..In case of a low predicted adult height at the onset of puberty, addition of a GnRH analogue can be considered. Although GH therapy appears safe, long-term monitoring is recommended...

..ISS is the diagnostic group that remains after excluding known conditions in short children...

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..If no obvious candidate gene can be determined, a whole genome approach can be taken to check for deletions, duplications and/or uniparental disomies...

..Finally, the paracrine-autocrine SHOX-BNP pathway and the related CNP-NPR2 pathway are also involved in growth, as very many other growth factors and their receptors and mediators...

..The type 1 IGF-I receptor (IGF1R) mediates the biological functions of IGF-I. Binding of IGF-I to the IGF1R results in autophosphorylation of the intracellular beta-subunit and activation of intracellular signaling...

..This resulted in a considerable gain in predicted adult height, without demonstrable side effects. Final height results will provide the definite answer on the effectiveness of this combined treatment...

..This process may contribute to the beneficial effects of estrogen on bone mass accrual, possibly by intracrinology...

..To examine the effect of intrauterine and neonatal growth, prematurity and personal and environmental risk factors on intelligence in adulthood in survivors of the early neonatal intensive care era...

..Findings from studies in humans on this topic are highly contradictory due to a number of methodological flaws, and renal function after glucocorticoid exposure has never been assessed...

..In this paper we describe the structural and functional characteristics of the putative truncated IGF-I protein...

..The individualized approach of the NIDCAP was thought to further increase HRQoL...

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..In January 1997 we introduced a protocol for the treatment with GH of children with impaired growth after unfractionated total body irradiation (TBI). This study is an evaluation of that protocol...

..Homozygous IGF1 deletions or mutations lead to severe short stature, deafness, microcephaly, and mental retardation. Heterozygosity for an IGF-I defect may modestly decrease height and head circumference...

..To assess the long-term effect of prepubertal high-dose GH treatment on growth in children with idiopathic short stature (ISS)...

..There may be a role for nongenomic signaling in body weight gain, tibial length and growth plate width but genomic signaling prevails...

..To investigate in a randomised controlled trial the effect of basic elements of developmental care (incubator covers and positioning aids) on growth and neurodevelopment in infants born at < 32 weeks...

..In conclusion, in The Netherlands the age at onset of puberty or menarche has stabilized since 1980. Height, weight, and body mass index have a strong influence on the chance of menarche...

..Although several correlations between these endocrine alterations and auxological parameters were detected, it is questionable whether the endocrine changes are the driving force behind catch-up growth...

..Acid-labile subunit (ALS) deficiency due to homozygous inactivation of the ALS gene (IGFALS) is associated with moderate short stature, and in few cases pubertal delay. The clinical expression of heterozygosity is unknown...

..In short children, a low IGF-I and normal GH secretion may be associated with various monogenic causes, but their prevalence is unknown. We aimed at testing GH1, GHR, STAT5B, IGF1, and IGFALS in children with GH insensitivity. Subjects and..

..To establish evidence-based guidelines for growth monitoring on a population basis. Study..

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..The sensitivity of the cut-off lines for hypochondroplasia is fair...

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..Renal tubular acidosis (RTA) is a rare cause of growth failure, therefore it is uncertain whether routine screening with blood gas analysis of short infants and children is cost-effective...

..The various possibilities are discussed and placed in a flowchart...

..0 IU/m2) determines the growth response on high-dose GH treatment. Peripheral markers do not seem to play a role in growth prediction of children with ISS...

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..In this review, we describe the growth of (very) preterm infants or (very) low-birth-weight infants from birth until adulthood...

..To investigate the influence of perinatal risk factors, especially hypotension, on neuromotor status at term in surviving preterm infants born before 32 weeks of gestation...

..We investigated whether this syndrome is related to alterations in plasma insulin-like growth factors (IGFs), IGF-binding proteins (IGFBPs), acid-labile subunit (ALS) and serum IGFBP-3 proteolysis...

..CONCLUSIONS: High dose GH treatment before puberty accelerates bone age and induces an earlier onset of puberty. This may limit the potential therapeutic benefit of this regimen in ISS...

..Growth monitoring is almost universally performed, but few data are available on which referral criteria and diagnostic work-up are used worldwide for children with short stature...

..We conclude that, besides gonadal and thyroid dysfunction, impaired growth and hyperparathyroidism often occur after Bu/Cy conditioning for SCT and that growth impairment may be the result of insufficient GH secretion...

..This study shows that the TAPQOL is a reliable and valid parent's perception of HRQoL in preschool children. More research is needed to evaluate the psychometric performance of the TAPQOL in different clinical populations...

..Looking for a duplication of the 15qter region is still worth consideration in patients with tall stature and features of Sotos syndrome without an NSD1 alteration, especially when there is craniosynostosis or marked speech delay...

..To evaluate the efficacy of oral dehydroepiandrosterone sulfate (DHEAS) treatment for atrichia pubis in female adolescents...

..Our data suggest that intracrinology in the rat growth plate can occur and may be a major source of local sex steroid delivery...

..The exon-3 deleted GH receptor (GHR(d3)) polymorphism is associated with an increased growth response to recombinant human GH (rhGH) therapy in some, but not all, studies in GH-deficient (GHD) and non-GHD children with short stature...

..In addition, we infer that effectual GHRH input controls the GH cell mass and the orderliness of the secretory process...

..To study the effect of irradiation on the longitudinal growth and the expression of parathyroid hormone-related peptide (PTHrP) and Indian hedgehog (IHh) in tibial growth plates of rats...

..To determine the impact of preterm birth on health status (HS) development at the ages of 5 and 10 years in a cohort of children born before term...

..In this study we wanted to further investigate the role of Gsk3β in cartilage maintenance...

..To help in this selection process, we developed flowcharts, based on the recently described patients, that can be used as guidelines in the diagnostic process of patients with severe short stature of unknown origin...

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..To determine the accuracy and precision of 2 height-prediction methods in Marfan syndrome and to assess the growth-reductive effect and side effects of sex hormone treatment...

..Remarkably, IGF-I deficiency is relatively well tolerated during the subsequent four decades of adulthood. IGF-I haploinsufficiency results in subtle inhibition of intrauterine and postnatal growth...

..However, their findings were inconsistent. To quantitatively assess the overall association between birth weight and circulating cortisol level, we aimed to perform a meta-analysis of the published literature...

..33 mg/kg/week is 5-7 cm. GH is efficacious in short stature due to chronic renal failure and Prader-Willi syndrome. In other conditions insufficient data are available. There are few side-effects...

..To assess social lifestyle, risk-taking behavior, and psychopathology in young adults born very preterm or with a very low birthweight...

..With the recent development of knockout models for both estrogen receptors, attempts are being made to unravel the local actions of estrogen in order to characterize further their roles in the regulation of longitudinal growth...

..To evaluate growth from diagnosis until final height (FH) in 21-hydroxylase deficiency patients...

..To provide growth and sexual maturation reference data for Moroccan children living in The Netherlands and to compare them with the reference data of children of Dutch origin...

..Finally, the implications of a genetic defect in the GH-IGF-I axis for the patient and the therapeutic options will be discussed...

..The combination of clinical and biochemical features and an appropriate skeletal survey can often lead to the correct diagnosis and/or guide the subsequent molecular analysis...

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..This study was undertaken to investigate paediatric clinicians' views on and use of quality of life (QoL) assessment in clinical practice...

..Important options are UPD7 and the FGFR3, SHOX, GH1 and GHR genes. Furthermore, analysis of the IGF and IGF1R genes should be considered. We propose a flow chart for molecular analysis in short stature...

..Furthermore, our data indicate that the absence of growth-plate closure in the rat cannot be explained by disappearance of ER alpha expression during sexual maturation per se...

..8 cm). We conclude that a GH dosage of 27 IU (9 mg)/m(2) x wk to prepubertal children with ISS leads to a mean FH gain of approximately 7 cm, whereas regimens starting on lower dosages are less efficacious...

..Secondly, to investigate whether these cellular parameters can predict the growth response to GH treatment in children with ISS...

..Use of corticosteroids in puberty resulted in lower adult height...

..Children born small for gestational age or with neurological abnormalities at 2 y of age had higher syndrome scale scores, mainly for anxious/depressed and/or withdrawn behaviour...

..CONCLUSION: For studies on adult height at various ages and in various generations, these equations can be used to reduce experimental noise...

..The activity of 3 beta-hydroxysteroid-dehydrogenase was slightly increased. The serial analysis of plasma androgens provides more insight in the natural history of 17-ketosteroid reductase...

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..The incidence of submicroscopic deletions is unknown, as is the effect of GH therapy in this condition...

..To determine whether intrauterine growth restriction (IUGR) is a predisposing factor for high blood pressure (BP) in 19-year-olds who were born (very) preterm...

..This study provides the first insight into the biological function of SHOX as regulator of cellular proliferation and viability and relates these cellular events to the phenotypic consequences of SHOX deficiency...

..The phenotype in relation to the genotype of the different disorders will be reviewed in this chapter...

..Few data are available about the efficacy of treatment with GH in combination with a GnRH analog (GnRHa) in adolescence...

..RESULTS: Arm span-for-height standard deviation score (SDS) and hand length SDS were significantly higher in NSD1+/- patients. CONCLUSION: Arm span for height and hand length are discriminating parameters between NSD1+/- and NSD1+/+...

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..Therefore, in patients with severe short stature, signs of GH insensitivity, and a normal GHR, analysis of the STAT5b gene is recommended...

..We investigated which approach would result in the greatest specificity and sensitivity...

..Recombinant human GH was approved by the United States Food and Drug Administration in 2003 for the treatment of idiopathic short stature (ISS). However, to date, the safety of GH in this patient population has not been rigorously studied...

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..Attempts to reduce the CVD risk in this specific population should focus on weight reduction in young adulthood rather than on optimizing the early growth pattern...

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