Differences between WHO Growth Standards and China Growth Standards in Assessing the Nutritional Status of Children Aged 0-36 Months Old.

Background: At present, whether to use the World Health Organization's (WHO) growth standards or native growth standards to assess the nutritional status in a given population is unclear. This study aimed to compare the differences between the WHO's growth standards and China's growth standards in assessing the nutritional status of children aged 0~36 months. Methods: We used z-scores to evaluate the nutritional status of children. The weight-for-age z-scores (WAZs), length/height-for-age z-scores (LAZ/HAZs), and weight-for-length/height z-scores (WLZ/WHZs) were calculated using the WHO's growth standards and China's growth standards. MeNemar's test was used to compare the nutritional status of children. Results: The results in this study showed that there were differences between the WHO's standards and China's standards in assessing children's nutritional status except for stunting and obesity. The prevalence of underweight assessed using China's standards was higher than when using the WHO's standards (except when 3 and 36 months old). The prevalence of wasting was significantly higher when assessed using China's standards than when using the WHO's standards from 12 to 36 months. The prevalence of overweight was higher when assessed using the WHO's standards from 3 to 8 months. Conclusions: Both the WHO's and China's growth standards are useful measures in assessing children's nutritional status but with key significant differences. Therefore, caution should be taken in selecting appropriate measures in a given population.

Sanjad-Sakati Syndrome: Oral Health Care.

OBJECTIVES: The aim of this report is to describe the orofacial manifestations and dental management of a girl with Sanjad-Sakati syndrome. CLINICAL PRESENTATION AND INTERVENTION: The facial features included microcephaly, thin lips, beaked nose, low set ears, and a retrognathic mandible. An oral examination revealed oligodontia/hypodontia, small dental arches, a high arched palate, and a deep overbite and increased overjet. Oral rehabilitation involved full coverage prosthetic crowns on the upper central incisors, stainless steel crowns on the lower molars, and removable partial prostheses to replace missing teeth. CONCLUSION: Recognition of orofacial features might help in the diagnosis of Sanjad-Sakati syndrome. Dental management of affected patients might be complicated by intellectual, neurological, and endocrine abnormalities.

Growth in HIV-infected children on long-term antiretroviral therapy.

OBJECTIVES: To describe growth in HIV-infected children on long-term antiretroviral therapy (ART) and to assess social, clinical, immunological and virological factors associated with suboptimal growth. METHODS: This observational cohort study included all HIV-infected children at an urban ART site in South Africa who were younger than 5 years at ART initiation and with more than 5 years of follow-up. Growth was assessed using weight-for-age Z-scores (WAZ), height-for-age Z-scores (HAZ) and body mass index (BMI)-for-age Z-scores (BAZ). Children were stratified according to pre-treatment anthropometry and age. Univariate and mixed linear analysis were used to determine associations between independent variables and weight and height outcomes. RESULTS: The majority of the 159 children presented with advanced clinical disease (90%) and immunosuppression (89%). Before treatment underweight, stunting and wasting were common (WAZ<-2 = 50%, HAZ<-2 = 73%, BAZ<-2 = 19%). Weight and BMI improved during the initial 12 months, while height improved over the entire 5-year period. Height at study exit was significantly worse for children with growth impairment at ART initiation (P < 0.001), and infants (<1 year) demonstrated superior improvement in terms of BMI (P = 0.04). Tuberculosis was an independent risk factor for suboptimal weight (P = 0.01) and height (P = 0.02) improvement. Weight gain was also hindered by lack of electricity (P = 0.04). Immune reconstitution and virological suppression were not associated with being underweight or stunted at study endpoint. CONCLUSIONS: Malnutrition was a major clinical concern for this cohort of HIV-infected children. Early ART initiation, tuberculosis co-infection management and nutritional interventions are crucial to ensure optimal growth in HIV-infected children.

Conservative Surgical Management of a Grade III Corneal Dermoid.

PURPOSE: To present a rare, unique, grade III corneal dermoid treated with conservative surgical management. METHODS: An 8-month-old boy was admitted to our clinic with a lesion on the central cornea of the right eye and a corneal mass in the left eye. The mass had a skin-like surface and protruded to the outside of the palpebral fissure. MRI (magnetic resonance imaging) of the orbits showed a large cyst covering most of the cornea and the absence of the anterior chamber and lens. The dermoid was excised and sent for histopathological examination. The cornea was reconstructed using the partial thickness scleral graft. RESULTS: The histopathology report confirmed the diagnosis of a grade III corneal dermoid. On examination 1 year after the surgery, the orbital and globe volumes were the same, and the intraocular pressure was normal. CONCLUSIONS: This is likely the first report of an unusual case in which a grade III corneal dermoid with an anterior staphyloma was treated by anterior segment reconstruction using an autologous partial thickness scleral graft. We believe that this technique has the advantage that it stimulates orbital and facial development and has good cosmetic results.

Revised listings for growth disorders and weight loss in children. Final rule.

This rule adopts, with one change, the rule for evaluating growth disorders in children we proposed in a notice of proposed rulemaking (NPRM) published in the Federal Register on May 22, 2013. Several body systems in the Listing of Impairments (listings) contain listings for children based on impairment of linear growth or weight loss. We are replacing those listings with new listings for low birth weight (LBW) and failure to thrive; a new listing for genitourinary impairments; and revised listings for growth failure in combination with a respiratory, cardiovascular, digestive, or immune system disorder. These revisions reflect our program experience, advances in medical knowledge, and comments we received from medical experts and the public.

Diagnostic Work-up and Follow-up in Children with Tall Stature: A Simplified Algorithm for Clinical Practice.

OBJECTIVE: No evidence-based guideline has been published about optimal referral criteria and diagnostic work-up for tall stature in children. The aim of our study was to describe auxological and clinical characteristics of a cohort of children referred for tall stature, to identify potential candidates for adult height reduction, and to use these observations for developing a simple algorithm for diagnostic work-up and follow-up in clinical practice. METHODS: Data regarding family and medical history, auxological measurements, bone age development, physical examination, additional diagnostic work-up, and final diagnosis were collected from all children referred for tall stature, irrespective of their actual height standard deviation score (HSDS). Predicted adult height (PAH) was calculated in children above 10 years. Characteristics of patients with an indication for adult height reduction were determined. RESULTS: Hundred thirty-two children (43 boys) with a mean ± SD age of 10.9±3.2 (range 0.5-16.9) years were included in the study. Fifty percent of the referred children had an HSDS ≤2.0 (n=66). Two pathological cases (1.5%) were found (HSDS 2.3 and 0.9). Tall children without pathology were diagnosed as idiopathic tall, further classified as familial tall stature (80%), constitutional advancement of growth (5%), or unexplained non-familial tall stature (15%). Of the 74 children in whom PAH was calculated, epiphysiodesis was considered in six (8%) and performed in four (5%) patients. CONCLUSION: The incidence of pathology was very low in children referred for tall stature, and few children were potential candidates for adult height reduction. We propose a simple diagnostic algorithm for clinical practice.

Spectrum of insulin-like growth factor deficiency.

There are eight known genetic causes of short stature characterized by low serum IGF-1 (IGF-1 deficiency, IGFD) and normal GH secretion. One of these (GHSR defect) is a form of secondary IGFD, although the GH peak in provocation tests can be normal. Bioinactive GH (GH1 mutations) can disturb GH secretion, but also GH binding and signaling. The remaining conditions are classified as primary IGFD (GH insensitivity). The clinical phenotype of GH receptor (GHR) defects is variable. Of the three GH signal transduction defects, a STAT5B defect is well established, but abnormalities in the MAPK pathway (such as PTPN11 mutations in Noonan syndrome) and NF-ĸB pathway (IĸBα mutation) may also cause IGFD. Homozygous IGFALS defects are relatively common, and lead to moderate growth failure, very low serum IGF-1 and even lower IGFBP-3, while a heterozygous IGFALS mutation decreases height by 1 SD. Most cases with a homozygous IGF1 defect are very short, microcephalic, and deaf, but heterozygous mutations may also lead to short stature. 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.

A baixa estatura leve está associada ao aumento da pressão arterial em adolescentes com sobrepeso / Mild stunting is associated with higher blood pressure in overweight adolescents / La baja estatura leve está asociada al aumento de la presión arterial en adolescentes con sobrepeso

FUNDAMENTO: Estudos têm demonstrado que a desnutrição pré/pós-natal leva a um maior risco de doenças não transmissíveis, como diabetes, hipertensão e obesidade na idade adulta. OBJETIVO: Determinar se os adolescentes com sobrepeso e desnutrição leve [escores-Z altura/idade (HAZ) na faixa de <-1 a > -2] têm pressão arterial mais elevada do que os indivíduos com sobrepeso e com estatura normal (HAZ > -1). MÉTODOS: Os participantes foram classificados como de baixa estatura leve ou de estatura normal, e estratificados de acordo com os percentis de massa corporal para a idade, como sobrepeso, peso normal ou abaixo do peso. As pressões arteriais sistólica (PAS) e diastólica (PAD) foram determinadas de acordo com as diretrizes e a gordura abdominal foi analisada por absorciometria de dupla emissão de raios-X. RESULTADOS: Indivíduos com baixa estatura leve e sobrepeso apresentaram valores mais elevados da PAD (p = 0,001) do que suas contrapartes de baixo peso (69,75 ± 12,03 e 54,46 ± 11,24 mmHg, respectivamente), mas semelhantes àqueles com IMC normal. Não foram encontradas diferenças nos valores de PAD em indivíduos normais, indivíduos com sobrepeso e com baixo peso entre os grupos de estatura normal. Foi encontrado um aumento na PAS (p = 0,01) entre os indivíduos com baixa estatura leve quando comparados os indivíduos com sobrepreso com suas contrapartes de baixo peso e IMC normal (114,70 ± 15,46, 97,38 ± 10,87 e 104,72 ± 12,24 mmHg, respectivamente). Embora não tenham sido observadas diferenças nas médias de PAS entre os grupos de baixa estatura leve e estatura normal, foi encontrado um intercepto significativo (p = 0,01), revelando maior PAS entre os indivíduos com baixa estatura leve. Houve correlação entre PAS e gordura abdominal (r = 0,42, ρ = 0,02) no grupo com baixa estatura leve. CONCLUSÃO: Indivíduos de baixa estatura leve com sobrepeso apresentaram maior PAS do que os de estatura normal e sobrepeso. Esses achados confirmam que a baixa estatura leve aumenta o risco futuro de hipertensão e essas alterações são evidentes em indivíduos jovens.

BACKGROUND: Studies have shown that pre/postnatal undernutrition leads to higher risk of non communicable diseases such as diabetes, hypertension and obesity in adulthood. OBJECTIVE: To determine whether overweight adolescents with mild stunting [height-for-age Z scores (HAZ) in the range <-1 to >-2] have higher blood pressure than overweight individuals with normal stature (HAZ >-1). MEHTODS: Participants were classified as mildly stunted or of normal stature, and further stratified according to body mass index-for-age percentiles as overweight, normal or underweight. Systolic (SBP) and diastolic (DPB) blood pressures were determined according to guidelines, and abdominal fat was analyzed by dual energy X-ray absorptiometry. RESULTS: Mild stunted overweight individuals showed higher DBP values (p=0.001) than their underweight counterparts (69.75 ± 12.03 and 54.46±11.24 mmHg, respectively), but similar to those of normal BMI. No differences were found in DBP values of normal, overweight and underweight individuals among the normal stature groups. An increase in SBP (p=0.01) among mild stunted individuals was found when those with overweight were compared to their underweight and normal BMI counterparts (114.70 ± 15.46, 97.38 ± 10.87 and 104.72 ± 12.24 mmHg, respectively). Although no differences were observed in the means of SBP between mild stunting and normal stature groups, a significant intercept was found (p=0.01), revealing higher SBP among stunted individuals. There was a correlation between SBP and abdominal fat (r=0.42, ρ=0.02) in the stunted group. CONCLUSION: Stunted individuals with overweight showed higher SBP than those of normal stature and overweight. These findings confirm that mild stunting increase the risk of future hypertension and alterations are evident at early age.

FUNDAMENTO: Estudios han demostrado que la desnutrición pre/post-natal lleva a un mayor riesgo de enfermedades no transmisibles, como diabetes, hipertensión y obesidad en la edad adulta. OBJETIVO: Determinar si los adolescentes con sobrepeso y desnutrición leve [escores-Z altura/edad (HAZ) en la franja de <-1 a > -2] tienen presión arterial más elevada que los individuos con sobrepeso y con estatura normal (HAZ > -1). MÉTODOS: Los participantes fueron clasificados como de baja estatura leve o de estatura normal, y estratificados de acuerdo con los percentiles de masa corporal para la edad, como sobrepeso, peso normal o abajo del peso. Las presiones arteriales sistólica (PAS) y diastólica (PAD) fueron determinadas de acuerdo con las directrices y la grasa abdominal fue analizada por absorciometría de doble emisión de rayos-X. RESULTADOS: Individuos con baja estatura leve y sobrepeso presentaron valores más elevados de la PAD (p = 0,001) que sus contrapartes de bajo peso (69,75 ± 12,03 y 54,46 ± 11,24 mmHg, respectivamente), pero semejantes a aquellos con IMC normal. No fueron encontradas diferencias en los valores de PAD en individuos normales, individuos con sobrepeso y con bajo peso entre los grupos de estatura normal. Fue encontrado un aumento en la PAS (p = 0,01) entre los individuos con baja estatura leve cuando fueron comparados los individuos con sobrepreso con sus contrapartes de bajo peso y IMC normal (114,70 ± 15,46, 97,38 ± 10,87 y 104,72 ± 12,24 mmHg, respectivamente). Aunque no hayan sido observadas diferencias en las medias de PAS entre los grupos de baja estatura leve y estatura normal, fue encontrado un intercepto significativo (p = 0,01), revelando mayor PAS entre los individuos con baja estatura leve. Hubo correlación entre PAS y grasa abdominal (r = 0,42, ρ = 0,02) en el grupo con baja estatura leve. CONCLUSIONES: Individuos de baja estatura leve con sobrepeso presentaron mayor PAS que los de estatura normal y sobrepeso. Esos hallazgos confirman que la baja estatura leve aumenta el riesgo futuro de hipertensión y esas alteraciones son evidentes en individuos jóvenes.

Mild stunting is associated with higher blood pressure in overweight adolescents.

BACKGROUND: Studies have shown that pre/postnatal undernutrition leads to higher risk of non communicable diseases such as diabetes, hypertension and obesity in adulthood. OBJECTIVE: To determine whether overweight adolescents with mild stunting [height-for-age Z scores (HAZ) in the range <-1 to ≥ -2] have higher blood pressure than overweight individuals with normal stature (HAZ ≥ -1). METHODS: Participants were classified as mildly stunted or of normal stature, and further stratified according to body mass index-for-age percentiles as overweight, normal or underweight. Systolic (SBP) and diastolic (DPB) blood pressures were determined according to guidelines, and abdominal fat was analyzed by dual energy X-ray absorptiometry. RESULTS: Mild stunted overweight individuals showed higher DBP values (p=0.001) than their underweight counterparts (69.75 ± 12.03 and 54.46 ± 11.24 mmHg, respectively), but similar to those of normal BMI. No differences were found in DBP values of normal, overweight and underweight individuals among the normal stature groups. An increase in SBP (p=0.01) among mild stunted individuals was found when those with overweight were compared to their underweight and normal BMI counterparts (114.70 ± 15.46, 97.38 ± 10.87 and 104.72 ± 12.24 mmHg, respectively). Although no differences were observed in the means of SBP between mild stunting and normal stature groups, a significant intercept was found (p=0.01), revealing higher SBP among stunted individuals. There was a correlation between SBP and abdominal fat (r=0.42, ρ=0.02) in the stunted group. CONCLUSION: Stunted individuals with overweight showed higher SBP than those of normal stature and overweight. These findings confirm that mild stunting increase the risk of future hypertension and alterations are evident at early age.

Ventricular noncompaction and absent thumbs in a newborn with tetrasomy 5q35.2-5q35.3: an association with Hunter-McAlpine syndrome?

We report on an infant with tetrasomy of 5q35.2-5q35.3, an interstitial triplication on one chromosome and normal complement on the other. The patient has some features of Hunter-McAlpine syndrome including intrauterine growth retardation (IUGR), almond-shaped eyes, epicanthal folds, and downturned mouth with thin vermillion of the upper lip. In addition, left ventricular noncompaction and absent thumbs were identified, which have never been described in Hunter-McAlpine syndrome. This chromosome abnormality is distinct from those previously reported. Within this region of tetrasomy is MSX2, a highly conserved homeobox containing gene. Increased copies of MSX2 have been previously associated with craniosynostosis. Our patient's only skeletal defect is absent thumbs, also potentially related to increased dosage of MSX2 which is important for limb formation. In addition, MSX2 is expressed in the developing heart and overexpression of this gene may disrupt the co-regulation of other cardiac genes in this region, namely CSX1.

From GHRH to IGF-1 and downstream: clinical phenotypes and biological mechanisms.

Genetic defects have been observed at almost all levels of the GHRH-IGF-1 axis. The first observations of GH-1 gene deletions date some 30 years ago. Whereas mutations in the GH-1 and GHRHR genes account for the majority of mutations detectable in patients with Isolated Growth Hormone Deficiency (IGHD) resulting in postnatal growth failure, the overall detection of genetic defects in these patients remains low with app. 10-15%. Similarly, at the lower end of the GHRH-IGF-1 axis the frequency of defects within the IGF-1 and IGF-1 receptor (IGF1R) genes might hardly approach 10% of all cases with intrauterine and postnatal growth retardation. In this article we examine the pathomechanisms involved in the genetic defects at both ends of the GHRH-IGF-1 axis and describe the clinical and biochemical phenotypes involved. Although it seems tempting to increase the detection rate by limiting genetic investigations to patients with phenotypic characteristics described, at present it seems more appropriate to follow a permissive approach for such investigations as we are probably have not envisioned the full spectrum of phenotypic variability.

Incorporating genetic potential when evaluating stature in children with cystic fibrosis.

OBJECTIVE: The 2002 Cystic Fibrosis Foundation (CFF) practice guidelines recommend adjusting for genetic potential when evaluating height status in children with CF. However, there is paucity of data to support this recommendation. We compared three methods of classifying short stature: unadjusted height percentile <10th, Himes adjusted height percentile <10th, and unadjusted height below the CFF target height lower bound. PATIENTS AND METHODS: Data from 3306 children with parental heights documented in the 1986-2005 CFF Patient Registry were analyzed. RESULTS: Mean height percentile of CF children (33rd) was lower than their parents' (mothers' 53rd, fathers' 57th), and 80% of CF children were below the average of their parental height percentiles. In children with short parents, Himes adjusted height percentile was significantly higher than unadjusted height percentile (27th vs. 8th), whereas the opposite was found in children with tall parents (Himes adjusted at 18th vs. unadjusted at 49th). Consequently, the prevalence of short stature decreased from 52% to 22% in children with short parents and increased from 8% to 34% in children with tall parents after Himes adjustment. In children with discrepant classification on short stature before and after Himes adjustment, percent predicted forced expiratory volume in one second was negatively associated with unadjusted height percentile but positively associated with Himes adjusted height percentile. In children with short parents, the CFF method underestimated the prevalence of short stature (9%) compared to the Himes method (22%). CONCLUSION: Without adjustment of genetic potential, the prevalence of short stature is underestimated and the association between height and lung function is biased.

Diagnostic approach in children with short stature.

For early detection of pathological causes of growth failure proper referral criteria are needed, as well as a thorough clinical, radiological and laboratory assessment. In this minireview we first discuss the two consensus-based and one evidence-based guidelines for referral that have been published. The evidence-based guidelines result in a sensitivity of approximately 80% at a false-positive rate of 2%. Then, relevant clues from the medical history and physical examination are reviewed, and specific investigations based on clinical suspicion listed. In the absence of abnormal clinical findings, an X-ray of the hand/wrist and a laboratory screen are usually performed. Scientific evidence for the various components of laboratory screening is scarce, but accumulated experience and theoretical considerations have led to a list of investigations that may be considered until more evidence is available.

Overgrowth syndromes: a classification.

Overgrowth syndromes are characterized by macrosomia, congenital anomalies, mental retardation and an increased risk of tumors. In this article we will analyze what we define 'classical' overgrowth.

Changing patterns of the adult growth hormone deficiency diagnosis documented in a decade-long global surveillance database.

BACKGROUND: GH therapy in adult patients with GH deficiency (GHD) was approved over 10 yr ago, and the indication has subsequently gained broad acceptance. The HypoCCS surveillance database is a suitable means to examine the evolution of diagnostic patterns since 1996. METHODS: Baseline demographics, reported cause of GHD, and diagnostic tests were available from 5893 GH-treated patients. Trends for change over time in diagnosis, GH stimulation test data, and IGF-I measurements were analyzed at 2-yr intervals by linear regression models, with entry year as the predictive variable. RESULTS: Over the decade, there was a decrease in patients enrolled with diagnoses of pituitary adenoma (50.2 to 38.6%; P < 0.001), craniopharyngioma (13.3 to 8.4%; P = 0.005) and pituitary hemorrhage (5.8 to 2.8%; P = 0.001); increases in idiopathic GHD (13.9 to 19.3%; P < 0.001), less common diagnoses (7.4 to 15.8%; P < 0.001), and undefined/unknown diagnoses (1.3 to 8.6%; P < 0.001) were observed. Use of arginine, clonidine, and L-dopa tests declined, whereas use of the GHRH-arginine test increased. Median values for peak GH from all tests except GHRH-arginine and for IGF-I SD scores increased significantly (P < 0.001). Over the decade (1996--2005), idiopathic GHD was reported for 16.7% of patients, and more than half of these had adult onset GHD. In the idiopathic adult onset group, 40.2% had isolated GHD; 18.3 and 4.4% had a stimulation test GH peak of at least 3.0 and 5.0 microg/liter, respectively. CONCLUSIONS: Significant shifts in diagnostic patterns have occurred since approval of the adult GHD indication, with a trend to less severe forms of GHD.

Isolated growth hormone deficiency: clinical entity?

Isolated GH deficiency (IGHD) is a distinct picture defined as a condition of GHD not associated with other pituitary hormone deficiencies, with or without an organic lesion. It can be drawn depending on the history, clinical picture, and age of onset of GHD. In childhood, 3 categories of IGHD can be identified: IGHD due to manifest organic alterations of the hypothalamo-hypophyseal system, genetically determined, and idiopathic. Adults with IGHD can also be grouped in those who had prior childhood IGHD, those who acquire IGHD secondary to structural lesions or trauma, and those with idiopathic IGHD. Diagnosis of IGHD in childhood requires clinical and auxological assessment, combined with biochemical tests, neuroradiological and genetic evaluation. In adults there is no single biological marker that offers the same diagnostic usefulness as the growth rate in children, therefore, both a clearly positive GH provocative test and an IGF-I level below the lower limit of normal should be present. Therapeutic response to GH replacement in IGHD is comparably favorable in both adult-onset and childhood-onset and is most likely to benefit those patients who have more severe GHD.

Adult growth hormone deficiency (GHD): an established diagnosis?

The adult GH deficiency (GHD) indication is now an established clinical therapy worldwide. However, as the number of patients being replaced with GH increases, some aspects in the management of adult GHD patients emerge which are not yet fully defined. These aspects relate primarily to the diagnosis of adult GHD which had initially been based on criteria developed for patients with typical forms of adult pituitary disease (pituitary tumor); the expanding spectrum of the adult GHD indication has disclosed the full variability of the clinical presentation of the adult GHD syndrome indicating the limitations of some existing diagnostic criteria. Other aspects affected by the expanding spectrum of the adult GHD diagnosis are the separation of adult from childhood onset patients and the assessment of long-term outcomes after GH replacement. However, such a situation is by no means surprising as also the use of GH in pediatric endocrinology has been currently improved over decades, based on accumulating clinical experience. Thus it can be anticipated that the adult GHD indication will follow a similar pattern, and more and more optimisation steps will be introduced over time as experience with GH treatment in adults accumulates.