Search

Primary nephrogenic diabetes insipidus (NDI) is a genetic, chronic disease characterised by lack of distal renal tubule to antidiuretic hormone. The condition produces polyuria, polydipsia, and consequently, reduced caloric intake and growth failure. There is very scarce information on physical growth of affected children. The objective of the paper is to describe long-term growth of 14 patients from 11 families, studied retrospectively and followed for 3–16 years (median 11.6 years). Diagnosis was made on the basis of clinical and laboratory data and concentration test under pitressin. Patients were treated with indomethacin, thiazides, and amiloride. Weight and standing height was measured periodically at the Laboratory of Anthropometry, following standardised techniques. Information was obtained from clinical notes. The majority of children grew below the third centile of local standards, and many showed improvement of weight, height, and body mass index (BMI) over time. Mean height, weight, and BMI gain during follow-up was 1.72, 1.06, and 1.46 standard deviations (SDs), respectively. Three children who did not adhere to treatment showed growth delay. Height gain during the first 2 years of follow-up was inversely associated with height deficit at diagnosis. Further studies on growth at adolescence and in different mutations are recommended. [ABSTRACT FROM AUTHOR]

Information on prevalence and type of problems of psychomotor development (PPD) is necessary for implementation of specific care programmes at field level. With the purpose of obtaining this information, a screening test, the Prueba Nacional de Pesquisa (PRUNAPE) for PPD was implemented in three health centres in San Isidro, a city near Buenos Aires, attended by different socio-economic groups: centres A and B were located in the inner city, and C in a middle-class area. The test was administered by three previously trained paediatricians to 839 apparently healthy children aged 0–5 years. The failure rates were 24%, 19% and 16% in centres A, B and C respectively (20% in total). Out of the 170 children failing the test and referred to hospital for diagnosis and treatment, only 96 complied and went through a series of studies carried out by a previously prepared multidisciplinary team. With the exception of children who failed the Battelle test [classified as Global Developmental Delay (GDD)], final diagnoses were classified according to Diagnostic and Statistical Manual of Mental Disorders, 4th edition: GDD (60 children), pervasive developmental disorders (11), communication disorders (10), motor disorders (6, of whom 2 were with cerebral palsy), attention deficit disorders (5), attachment disorders (2), normal children (3). Co-morbidity was present in 22 affected children. Forty-three per cent of children failing the test did not attend hospital or did not complete studies because of major social and family problems, the family not living in the area, or the parents preferring to consult their own paediatrician. Health centres and children not selected in a randomised way, and a significant proportion of them not complying with the indication of hospital referral were major sources of bias, so that PPD prevalences, positive and negative predictive values should be interpreted with great caution. Further studies accounting for these sources of bias are needed to confirm the observed prevalence of PPD. Training of health personnel, at hospital and health centre level, priority settings, and operational research to evaluate effectiveness of treatments and care delivery systems at field level are necessary in Argentina for optimal use of limited healthcare resources. [ABSTRACT FROM AUTHOR]

Background: Relative macrocephaly describes a large head in relation to stature, and this indicator could be helpful in depicting syndromes with large heads and short stature, providing the existence of some relationship between both measurements in normal children. Objective: The aims of this study were (1) to evaluate the existence of a relationship between head circumference (HC), height and weight, (2) to build an instrument for evaluating it and validate its clinical utility. Subjects and methods: Relationship between HC, height and weight was explored in a national sample of 3571 healthy, well nourished boys and girls aged 0-5.99 years. Age-adjusted correlation coefficients calculated were: HC and height, 0.30; HC and weight, 0.37; and height and weight, 0.60. A growth standard of HC to height ratio was constructed using the LMS method with both sexes pooled, and selected centiles and SD scores of HC to height ratio for each age were estimated. Z-scores of HC for age, and HC to height ratio were calculated for 13 children with hypochondroplasia, and 90 with achondroplasia, both conditions associated with macrocephaly. Results: Only four children with hypochondroplasia had HC for age above 2.00 SD, whereas all of them showed SD scores above 2.00 when the HC to height ratio was evaluated. Results suggest that the prepared standard may be of clinical utility. Conclusions: A new standard is proposed, capable of pinpointing children with relative macrocephaly. [ABSTRACT FROM AUTHOR]

Renal disease is the most important long-term complication of hemolytic-uremic syndrome (HUS). A comparative study of renal function was carried out in two groups of patients. Group 1 included 19 children followed for a median of 11 years, 1960-1980, with a low-sodium diet, antihypertensive drugs, and a restricted protein intake in the end stage of renal disease. Group 2 included 26 children treated for a median of 9 years, 1988-2002, on a low-sodium diet, early restriction of protein intake according to recommendations, and angiotensin converting enzyme inhibitors (ACEi). Long-term renal function was assessed by the inverse of the plasma creatinine concentration (1/[Cr]) over time. Linear regression lines were fitted to individual values of 1/[Cr] for each child. Regression coefficients of children in group 1 were all negative, ranging from -0.031 to -0.00043; 7 were significantly different from zero, indicating a linear fall in renal function over time. In contrast, children from group 2 had 11 negative slopes (only 1 significant) and 15 positive slopes, ranging from 0.17893 to -0.3899. Fisher’s exact test showed that group 1 had significantly more children with negative slopes than group 2. This comparatively better long-term outcome of renal function in children under contemporary treatment was probably associated with early restriction of protein and use of ACEi. [ABSTRACT FROM AUTHOR]

In Argentina, there is no information on ages of attainment of developmental milestones and very few data about environmental factors that influence them. A national survey on the psychomotor development of children under 6 years of age was carried out with the help of 129 paediatricians. Logistic regression was applied to a final sample of 3573 healthy, normal children in order to estimate selected centiles (25th, 50th, 75th and 90th), together with their respective confidence intervals, of the ages of attainment of 78 developmental items belonging to the following areas: personal-social (18 items), fine motor (19), language (18) and gross motor (23). The 50th centile obtained for each of the 43 comparable items was compared with those obtained in previously standardised tests: DDST, Denver II, Bayley and Chilean scales. Neither significant nor systematic differences were found between our results and those described in the tests used for comparison. Multiple logistic regressions showed that social class, maternal education and sex (female) were associated with earlier attainment of some selected developmental items, achieved at ages later than 1 year. Selected items achieved before the first year of life were not affected by any of the independent environmental variables studied. The information is useful in helping paediatricians in their daily practice for surveillance of development, as baseline information for epidemiological studies on development in our country and for cross-cultural analysis. [ABSTRACT FROM AUTHOR]

The article celebrates the life and work of José Jordan, the Cuban paediatrician who died on June 28, 2008.

Unlabelled: In order to prepare growth references for height, weight, and head circumference for Argentine children with Achondroplasia, 228 children (114 boys) aged 0-18 years attending the Growth Clinic at Hospital Garrahan were measured between 1992 and 2009. Centiles were calculated by LMS, a method for summarizing growth data which adjusts for skewness. Curves for centiles are obtained using the formula: [Formula: see text], where Z (α) is the normal equivalent deviate for tail area α; C100α is the weight or height centile corresponding to Z (α), t is age in years, and L(t) is (skewness)(t), M(t) is median, S (t) is coefficient variation and C(100α) (t) indicates the corresponding values of each curve at age t. Boys and girls centiles for height were similar to USA references in infancy and childhood but lower than that references at adolescence. Final height was 1.7 and 5.1 cm below USA achondroplasia references in girls and boys, respectively. Head circumference centiles were, at all ages, lower than USA references in both genders. Countries need national references for clinical growth assessment of their local population. Likewise, specific local growth references for children with some genetic conditions (such us achondroplasia) are valuable tools for detecting additional conditions affecting growth, for estimating final height and for evaluating the impact of growth-promoting treatments.Conclusion: references presented here can also be used in other countries with similar ethnographics characteristics. [ABSTRACT FROM AUTHOR]

Background: Daily changes in height have been found to be a non-linear process. Its exact pattern is still controversial. In previous studies on 34 healthy children aged 0.32–12.99 years, we found that growth is a tri-phasic process: stasis, steep changes (or saltation) and continuous growth. There is very little information in the literature about daily changes in head circumference. Aim: The present study analysed growth in head circumference and supine length in eight healthy infants. Subject and methods: Supine length and head circumference was measured five times a week during 151 days. Mean intra-observer technical error of measurement (TEM) for head circumference and supine length were 0.10 and 0.15 cm, respectively; smoothing techniques used were based on the TEM with a hard rejection criterion. Results: The three types of events previously found in supine length are also present in head circumference. The number of steep changes was greater in supine length than in head circumference. Conclusion: Growth is a discontinuous and irregular process, present not only in long bones but also in skull bones. Although long-term growth curves of head circumference and supine length are different, when measured on a daily basis findings suggest that skull and long bones have a common pattern; the physiological basis needs future research. [ABSTRACT FROM AUTHOR]

Acute lower respiratory infection due to adenovirus is an important cause of chronic lung disease (CLD) in infants. The objectives of this paper is to describe growth in the height and weight of children with post-viral chronic lung disease (PVCLD) and to relate it with associated variables (invasive mechanical ventilation, chronic hypercapnia, oxygen therapy at home and steroid treatment). Ninety-nine patients with diagnosis of PVCLD with one or more years of follow-up were included in the study. The median duration of follow-up was 3.10 years. The median age at onset of the disease was 0.50 years. According to the growth in height, there were 48 children with normal growth (Type A) and 50 with slow growth (Type B) followed by catch-up growth ( N=45) or normal growth velocity ( N=5); only one patient showed persistent slow growth. Chronic hypercapnia was a risk factor significantly associated to slow growth, with odds ratio, OR: 5.03; and 95% confidence interval, CI: 1.83/13.83. Patients with higher weight for height at the end of the slow-growth period showed greater gains in height during the following period ( r=0.46). Growth in children with PVCLD is heterogeneous but, in the majority of individual cases, it can be considered satisfactory. Chronic hypercapnia was associated with slow growth. [ABSTRACT FROM AUTHOR]

Since the onset of our liver transplantation program in 1992, 362 transplants were performed in 338 children. A risk score for predicting mortality was designed and implemented over time. The description of a method utilized to design the risk score, changes in mortality rate over 12 yr and the analysis of factors that might have influenced these changes are presented and discussed in this paper. Patients and methods: Cox regression analysis was applied to a retrospective sample of 110 patients with liver cirrhosis, transplanted between 1992 and 2000. A risk score was prepared using β coefficients of the two significant variables related to survival time: age (1.08, p=0.02) and bilirubin levels (0.93, p=0.03), and two groups were identified: low- and high-risk score. The score was applied in two consecutive samples: 2000–2002 and 2002–2004. Results: In the first sample (1992–2000), we found 69 and 41 as low- and high-risk patients, with a median survival time of 93.13 and 2.93 months (p=0.0001). In the 2000–2002 sample, a median survival time of 41.7 and 2.33 months (p=0.03) was found for low- and high-risk groups, respectively. In the third sample (2002–2004), there was a remarkable decrease in mortality in the high-risk group (n=29) and the score did not discriminate between high- and low-risk groups (p=0.35). Conclusion: A scoring system to identify risk levels in liver transplantation patients is an operative and powerful tool during a given period of time but it has to be updated as risk factors will vary following the team's learning curve. [ABSTRACT FROM AUTHOR]

Background : There is agreement amongst most investigators now on the fact that growth, when measured over short periods, is an irregular and non-linear process. However, many aspects related to this process still remain controversial, for example, the continuity or discontinuity of the daily changes and the degree of existence of age differences in growth patterns. Aim : In this study we analyse and compare growth in height based on daily measurements in three samples of healthy children: Eight infants (I), 16 schoolchildren (S) and 10 adolescent girls during their pubertal growth spurt (A). Subjects and methods : Standing height or supine length were measured five times a week during 128 days, with Harpenden instruments and standardized techniques. A jump-preserving smoothing technique, based on the technical error of measurement (TEM) with a hard rejection criterion was used to analyse our data. TEM varied between 0.08 and 0.20  cm. Results : Three types of events were found: (1) stasis (changes in smoothed values indistinguishable from zero over 7 or more consecutive days), (2) steep changes (any daily increment greater than 0.3  cm over 1  day), and (3) continuous growth (small, and continued increments over time). The three types were present in all infants, adolescents and schoolchildren, with the exception of four schoolchildren who did not show steep changes. In the three samples, steep changes accounted for 32.7% ( r   =  15.3–54.5%) of the total growth during the study period. Mean numbers of 1-day steep changes were 4.4, 1.4 and 2.1 for samples I, S and A, respectively. Mean numbers of stasis periods were 3.0, 2.9 and 4.3 for samples I, S and A, respectively. The longest stasis period observed was 28 consecutive days in one infant and one school child. Mean number of steep changes per child was significantly greater in infants. Conclusion : Our findings support the concept of growth as a non-linear and irregular process with three phenomena: Stasis, steep changes and continuous growth present in all ages, including infancy, school age and adolescence. [ABSTRACT FROM AUTHOR]

Hypochondroplasia (HCH) is a skeletal dysplasia characterized by short stature with disproportionately short arms and legs. Anthopometrics and skeletal features are very similar to achondroplasia but milder. Seventy per cent of affected individuals are heterozygous for a mutation of the FGFR3 gene. Differences in some anthropometric measurements in affected patients with and without N540K mutation were analysed. Diagnosis of the disease was made on the presence of previously standardized criteria: short stature, short limbs and three or more X-ray features. Genomic DNA was extracted from peripheral blood leukocytes by standard procedures. PCR amplification of exons 10, 13 and 15 of FGFR3 was performed. Twenty-six patients were studied (median age was 7.31, range 0.27–20.0 years). Sitting height, body proportions and head circumference (HC) were statistically different in the mutated group. Receiver Operating Characteristic (ROC) analysis was carried out in order to estimate the discriminating power of different cut-off points of HC for recognizing patients with and without the mutation. A figure of 1.86 SD for HC was found to have a sensitivity of 73.3% and specificity of 100% for detecting HCH patients with the mutation. All of them had a HC greater than 1.86?SD. These results contribute to a better characterization of the clinical–molecular relationships in HCH. Résumé. L’hypochondroplasie (HCH) est une dysplasie squelettique caractérisée par une courte stature et des bras et jambes proportionnellement trop courts. L’anthropométrie et les traits squelettiques sont très semblables à l’achondroplasie, mais plus atténués. Soixante dix pour cent des individus affectés sont hétérozygotes pour la mutation du gène FGFR3. On analyse les différences de quelques mensurations anthropométriques chez des patients selon qu’ils présentent ou non la mutation N540K. Le diagnostic de l’affection a été effectué sur la base de critères standards?: stature courte, membres courts et trois traits radiographiques ou plus. L’ADN génomique a été extrait de leucocytes du sang périphérique par des procédures standard. On a effectué l’amplification PCR des exons 10, 13 et 15 de FGFR3. Vingt six patients ont été étudiés (âge médian 7,31, variant 0,27 à 20 ans). La taille assis, les proportions corporelles et la circonférence de la tête (CT) sont significativement différents dans le groupe mutant. Une analyse « Receiver Operating Characteristic » (ROC) a été effectuée afin d’estimer le pouvoir discriminateur de différents point de coupure de CT pour reconnaître les patients avec ou sans la mutation. Le point 1,86 ET pour CT présente une sensibilité de 73,3 % et une spécificité de 100% pour détecter les patients avec la mutation, tous ayant une CT plus élevée que 1,86 ET. Ces résultats contribuent a mieux caractériser les relations clinico-moléculaires dans l’HCH. Zusammenfassung. Hypochondroplasie (HCH) ist eine Skelettdysplasie, die durch Kleinwuchs mit disproportioniert kurzen Armen und Beinen charakterisiert ist. Anthropometrische und knöcherne Merkmale ähneln sehr denen der Achondroplasie, sind aber milder ausgeprägt. 70 Prozent der betroffenen Individuen sind heterozygot für eine Mutation im FGFR3-Gen. Unterschiede bei einigen anthropometrischen Messungen betroffener Patienten mit und ohne N540K-Mutation wurden analysiert. Die Krankheitsdiagnose wurde gestellt, wenn folgende vorher standardisierte Kriterien erfüllt waren: Kleinwuchs, kurze Beine und drei oder mehr radiologische Merkmale. Genomische DNS wurde durch Standardverfahren aus peripheren Blutleukozyten extrahiert. PCR-Amplifikation der Exons 10,13 und 15 des FGFR3-Gens wurde vorgenommen. 26 Patienten wurden untersucht (Medianalter 7,31, Spannweite 0,27-20 Jahre). Sitzhöhe, Körperproportionen und Kopfumfang unterschieden sich statistisch signifikant in der Mutationsgruppe. Receiver operating characteristic (ROC)-Analysen wurden durchgeführt, um die Trennschärfe verschiedener Grenzwerte für Kopfumfänge zu schätzen, um Patienten mit und ohne die Mutation zu erkennen. Bei einem Wert von 1,86 Standardabweichungen fanden sich eine Sensitivität von 73,3% und eine Spezifität von 100% für die Erkennung von Hypochondroplasie-Patienten mit der Mutation. Von diesen hatten alle Kopfumfänge oberhalb 1,86 Standardabweichungen. Diese Ergebnisse tragen zu einer besseren Charakterisierung der klinisch-molekularen Beziehung bei der Hypochondroplasie bei. Resumen. La hipocondroplasia (HCH) es una displasia ósea que se caracteriza por una baja estatura con brazos y piernas desproporcionadamente cortos. Las características antropométricas y esqueléticas son muy similares a las de la acondroplasia, pero más moderadas. El setenta por ciento de los individuos afectados son heterozigotos para una mutación del gen FGFR3. Se analizaron las diferencias en varias medidas antropométricas en pacientes afectados con y sin la mutación N540K. El diagnóstico de la enfermedad se realizó mediante criterios previamente estandarizados: baja estatura, piernas cortas y tres o más características radiológicas (rayos X). Se extrajo ADN genómico a partir de leucocitos sanguíneos periféricos mediante procedimientos estándar. Se realizó una amplificación por PCR de los exones 10, 13 y 15 del gen FGFR3. Se estudiaron 26 pacientes (edad mediana 7,31; rango comprendido entre 0,27 y 20,0 años). La talla sentado, las proporciones corporales y el perímetro cefálico (PC) fueron significativamente diferentes en el grupo mutado. Se realizó un análisis de la característica operativa del receptor (análisis ROC) para estimar el poder discriminante de los diferentes puntos de corte del PC en el reconocimiento de pacientes con y sin la mutación. Se comprobó que un punto de corte de 1,86 SD para el PC tenía una sensibilidad del 73,3% y una especificidad del 100% para la detección de pacientes HCH con la mutación. Todos ellos tenían un PC mayor de 1,86 SD. Estos resultados contribuyen a una mejor caracterización de las relaciones clínico-moleculares en la HCH. [ABSTRACT FROM AUTHOR]