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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]

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]

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]

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]

A case of an affected girl with spondylo-meta-epiphyseal dysplasia (SMED) is reported. The disease was detected at birth as a congenital dysplasia with generalized lesions. At 10 months of age, abnormal calcifications appeared in both wrists. The patient evolved with severe growth retardation and multiple neurological and respiratory complications, followed by death at 21 months of age. [ABSTRACT FROM AUTHOR]

In this work, we report spontaneous chromosomal breakpoints and fragile site expression induced by 5-fluorodeoxyuridine (FdUrd) and FdUrd plus caffeine in a family with Bloom's syndrome (BS) and 2 healthy donors. Standard and G-banded metaphases from each individual and each treatment were analyzed. Among the 59 common fragile sites (c-fra) identified in this work, only the frequency of 5q31 was significantly increased in the BS family with respect to healthy donors ( P < 0.005). A remarkable coincidence between the breakpoints involved in spontaneous chromosome aberrations and induced c-fra was found in BS homozygote patients. The importance of the interaction between fragile sites and chromosome rearrangements in cancer is discussed. [ABSTRACT FROM AUTHOR]