Opsismodysplasia: a new type of chondrodysplasia with predominant involvement of the bones of the hand and the vertebrae.

The name opsismodysplasia is proposed for a new chondrodysplasia, which was studied in three patients. Clinically, the condition is recognized at birth on the basis of shortness, short hands, and facial abnormalities with a short nose and a depressed bridge of nose. The most characteristic radiographic signs are: very retarded bone maturation; marked shortness of the bones of the hands and of the feet with concave metaphyses; and thin, lamellar vertebral bodies. The growth cartilage studied in one case showed a wide hypertrophic area containing thick connective tissue septa, irregular provisional calcification, and vascular invasion. Type I collagen was detected in the hypertrophic area by immunohistochemical and microchemical tests. The transmission of opsismodysplasia is probably autosomal recessive.

Height velocity in Argentinean girls with Turner's syndrome.

Height velocities from birth to maturity derived from 1,049 height increments measured over intervals 0.85-1.15 years were studied from a sample of 187 patients with Turner's syndrome (TS) diagnosed on the basis of karyotype. Length of follow up in each girl varied from 1.0 to 11.0 years. Cross-sectional analysis showed a relatively stable growth velocity during pubertal ages. However, longitudinal analysis of individual growth curves showed the existence of a small growth spurt in 37 out of 47 girls with available data during pubertal years. Mean peak height velocity (PHV) of this spurt was 5.7 cm/year, SD 1.34; mean age at PHV was 12.66 years, SD 1.70. Selected percentiles were calculated using the least mean squares (LMS) method. Results show that a small growth spurt in girls with TS may be more frequent than previously thought.

[Reference tables of arm circumference from birth to 12 years of age for Argentinian girls and boys]. / Tablas de referencia del perímetro del brazo desde el nacimiento hasta los doce años, para niñas y niños Argentinos.

Standards for arm circumference for Argentinian children from birth to twelve years are presented. Such tables were constructed with healthy children living in La Plata, Argentina, a city with prevalent universitary and administrative population. Two samples of children were utilized: one from a longitudinal study which included 121 girls and 129 boys, from the middle class level who were periodically measured from birth up to the 144th week; the other one derived from a cross-sectional study covering 897 girls and 892 boys aged four to twelve years. This second sample was obtained applying a probabilistic and stratified sampling method, and is representative of La Plata's population for that group of age. Approximately 70% of the children belonged to the upper and middle social class. Raw and smoothed selected centiles are presented and compared to other communities, both local and foreign.

[Osteogenesis imperfecta. Clinical, functional and multidisciplinary evaluation of 65 patients]. / Osteogénesis imperfecta. Evaluación clínica, funcional y multidisciplinaria de 65 pacientes.

INTRODUCTION: Osteogenesis Imperfecta (OI) is a genetic disease, in which the main clinical features are increased bone fragility, pathological fractures, blue sclera, dentinogenesis imperfecta and conductive or mixed hearing loss. Clinical variability is wide. Although there is no curative treatment, there are several therapeutic tools capable of improving the course of the condition and patient quality of life. PATIENTS AND METHODS: Sixty-five children seen in a Paediatric Hospital during six months in 2007 were evaluated. RESULTS: Thirty-five were type I OI, and thirty were types III-IV. Median age was 7.8 years (range 1.9-19.2); mean length of follow up was 4.7 years. The majority of children attended regular school for their corresponding age. Mean height was -1.4 sDS and -5.64 sDS in types I and III-IV respectively. Nineteen percent of patients were overweight and 11% were obese. Mean age at first orthopaedic surgery inserting telescopic rods was 6.5 years. Scoliosis was present in 44.6% of patients and was directly related to severity. Bleck's motor scale showed that 93% of patients with mild forms and 29% of severe forms had a sustainable walking ability. A wheelchair was used by 25% of patients. Family inheritance was confirmed in 65% of cases. CONCLUSIONS: Integral care using a multidisciplinary approach is required due to the complexity and clinical variability of the condition.

Tiempo requerido para la administración y evaluación del Cuestionario Prunape Pre-Pesqusia (CPPP) / Time needed for the adminsitration and evaluation of the Prunape Pre- Pesquisia (CPPP) questionnaire

Con el objetivo de evaluar el tiempo que toma la administración de Cuestionario PrunPe Pre-Pesquisa (CPPP), diseñado en Acumar para detectar en forma confiable aquellos niños con alto riesgo de no pasar la Prueba Nacional de Pesquisa (PRUNAPE), se midió en forma ciega a 98 madres con sus niños, el tiempo que lleva su llenado y evaluación de dos formas: autoadministrado (por la madre), y administrado por personal de salud. Se evaluaron dos partes: a) la administración, y b) la evaluación final (pasa / no pasa el cuestionario). El tiempo lo midieron los mismos 11 profesionales de la salud que administraron el cuestionario, con cronómetros de teléfonos celulares, y con la precisión de un segundo. Los cuestionarios son cinco, uno para cada grupo de edad: 6 a 11, 12 a 17, 18 a 29, 30 a 47, 48 a 71 meses. La mediana del tiempo total de toma del cuestionario fue de 7 minutos (´) 33segundos (ô), y 4´47ö y 12¿19ö para los percentiles 10° y 90° respectivamente. Los tiempos no fueron los mismos para los cinco formularios ni para los que pasaron o no pasaron el cuestionario. El análisis de variancia (P 0.01)mostró que las dos variables influyen significativamente en la duración de la toma: si el niño no pasa y el niño es mayor de 30 meses, el tiempo es más largo. El CPPP resulta una herramienta que se administra en poco tiempo, lo que la hace costo-efectiva para seleccionar los niños a quienes es altamente necesario administrarle la Prueba Nacional de Pesquisa en programas de tamizaje en grandes grupos de población

Tiempo requerido para la administración y evaluación del Cuestionario Prunape Pre-Pesqusia (CPPP) / Time needed for the adminsitration and evaluation of the Prunape Pre- Pesquisia (CPPP) questionnaire

Con el objetivo de evaluar el tiempo que toma la administración de Cuestionario PrunPe Pre-Pesquisa (CPPP), diseñado en Acumar para detectar en forma confiable aquellos niños con alto riesgo de no pasar la Prueba Nacional de Pesquisa (PRUNAPE), se midió en forma ciega a 98 madres con sus niños, el tiempo que lleva su llenado y evaluación de dos formas: autoadministrado (por la madre), y administrado por personal de salud. Se evaluaron dos partes: a) la administración, y b) la evaluación final (pasa / no pasa el cuestionario). El tiempo lo midieron los mismos 11 profesionales de la salud que administraron el cuestionario, con cronómetros de teléfonos celulares, y con la precisión de un segundo. Los cuestionarios son cinco, uno para cada grupo de edad: 6 a 11, 12 a 17, 18 a 29, 30 a 47, 48 a 71 meses. La mediana del tiempo total de toma del cuestionario fue de 7 minutos (´) 33segundos (“), y 4´47” y 12¨19” para los percentiles 10° y 90° respectivamente. Los tiempos no fueron los mismos para los cinco formularios ni para los que pasaron o no pasaron el cuestionario. El análisis de variancia (P 0.01)mostró que las dos variables influyen significativamente en la duración de la toma: si el niño no pasa y el niño es mayor de 30 meses, el tiempo es más largo. El CPPP resulta una herramienta que se administra en poco tiempo, lo que la hace costo-efectiva para seleccionar los niños a quienes es altamente necesario administrarle la Prueba Nacional de Pesquisa en programas de tamizaje en grandes grupos de población.

With the aim to evaluate the time to administer the PrunPe Pre-Pesquisa Questionnaire (CPPP), designed in Acumar to reliably identify those children at high risk of not passing the National Screening Test (PRUNAPE)....

Age of menarche in urban Argentinian girls.

A cross-sectional study in La Plata city, Argentina, yielded a mean age of menarche in 6494 schoolgirls, of 12.53 +/- 0.05 years, standard deviation 1.22 years, obtained by probit analysis. These values show a relatively early age of menarche in Argentinian girls as compared to other populations.

Spondylo-meta-epiphyseal dysplasia, short limbs, abnormal calcification type: a new case with severe neurological involvement.

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.

Skeletal maturity of the hand and wrist of healthy Argentinian children aged 4-12 years, assessed by the TWII method.

One previously trained observer assessed skeletal maturity in a representative sample of 388 and 387 healthy girls and boys respectively from La Plata city, a predominantly university and administrative urban centre in Argentina. The staging system used was TWII and the scores were calculated from three sources: British, Spanish and Italian standards. Our sample showed a marked advancement in bone age with regard to chronological age when using British standards and, to a lesser extent, when applying the Spanish standards. Local mean bone ages were very similar to chronological ages when the Italian scores were used. Second-degree polynomials were adjusted to log10 scores for boys and girls, in order to obtain local values for bone age (BA) transformations. The same staging system should be used in clinical work in Argentina, with the corresponding changes in BA transformatons. A marked advancement of carpal BAs with regard to RUS BAs was found, from age 5 onwards, in both sexes. Mean differences and SD of RUS-minus-carpal BA were 1.28, SD 1.08 and 1.18, SD 1.09 years for girls and boys respectively. These differences have not been described before, and require further investigation.

Validity of reported parental height in outpatient growth clinics in Buenos Aires city.

Differences between reported and properly measured parental height were evaluated in 82 mothers and 62 fathers attending either of two growth clinics in Buenos Aires city. Measured height was adjusted to its physiological decline with age. A significant trend towards overestimation of mother's and father's self stature and of mothers' report of their husband's stature was found in the private clinic (PRC). Variances of differences between reported and measured height were significantly greater in mothers attending the clinic of the public hospital (PUC), thus suggesting more inaccurate estimations in lower-class families. Ranges of differences were 5.0/-4.8 and 5.6/-5.8 cm for mothers' and fathers' self-estimations in the PRC. Figures for the PUC were 12.2/-6.7 and 5.0/-5.9 cm respectively. Ranges of differences in mothers' report of their husbands' heights were 5.1/-1.7 (PRC) and 9.4/-14.6 cm (PUC). Partial regression and correlation coefficients showed a significant trend of taller parents to be more inaccurate in their reporting. There were neither age nor sex influences on the accuracy or parental estimations. Individual variations in the errors found show the importance of measuring actual parental height for growth assessment in a clinical setting.

[Compensatory growth in children with intrauterine growth retardation of different etiologies]. / Crecimiento compensatorio en niños con retardo del crecimiento intrauterino de diferentes etiologías.

Postnatal growth of infants born with low birth-weight for gestational age was studied by measuring monthly weight, supine length, head circumference and triceps skinfold from birth to seven months. Three groups were studied: twins (group A, N 15), babies with no apparent cause of their IGR; group B, N 20) and babies born from mothers with moderate to severe toxemia during pregnancy (group C, N 9). The three groups had a similar degree of birth-weight deficit, but birth-length was significantly more reduced in group C. The three groups presented some degree of catch-up-growth, reflected by a higher-than-average growth velocity, present during the first 3-4 months only; after this age, growth rates were not different from normal average. Groups A and B had a greater catch-up-growth than group C in weight and triceps skinfold, reaching 50th percentile in three months. Incomplete catch-up of group C may be due to interference of toxemic injury on critical period of fat cell replication. The prognosis of postnatal growth of babies with IGR is strongly dependent on the degree of catch-up-growth during the first months of extrauterine life; this is, in turn, related to the etiology responsible for IGR.

Age of onset of puberty in urban Argentinian children.

A cross-sectional study in La Plata city, Argentina yielded mean ages of onset of breast and pubic hair developments in 504 girls and of genitalia development in 498 boys of 10.8, 11.0 and 11.8 years respectively. These values are close to those reported previously for various other populations.

Short-term growth at adolescence in healthy girls.

UNLABELLED: In the last decade, most investigators found that growth measured on a daily or weekly basis is a non-linear process, but its precise pattern has not yet been fully determined. Data are particularly scarce during puberty. On this basis we evaluated the daily growth in 10 healthy girls during their adolescent growth spurt with replicated height measurements over a period of 128-150 days. The technical error of measurement in each girl varied between 0.08 and 0.12 cm. A jump-preserving smoothing technique based on the technical error with a hard rejection criterion was used. Growth was defined as any increment between two consecutive smoothed values greater than 6 times the standard deviation of the difference of two consecutive smoothed values under the non-growth (stasis) assumption. Steep changes in height were conventionally defined as any 1-day increment greater than 0.3 cm. RESULTS: All girls showed stasis periods, steep changes and days with a continuous growth with a wide range of daily increments in height. The number of stasis periods in each girl varied between three and seven, lasting between 7 and 22 consecutive days. The number of steep changes in each girl ranged between one and four with a mean amplitude between 0.37 and 0.52 cm. The sum of these steep changes calculated in each girl as a percentage of total growth during the study period ranged from 15.3 to 42.9%; the remaining growth was due to continuous growth. Rhythms or cycles were not found. CONCLUSION: Short-term growth during the pubertal growth spurt in these healthy girls is an irregular and discontinuous process, composed of three types of events: stasis, steep changes and continuous growth periods with a wide individual range of daily height increments.

Normal growth velocity before diagnosis of celiac disease.

BACKGROUND: Clinical experience leads us to believe there may be patients with celiac disease who have not yet been treated, with a normal physical growth. METHODS: To evaluate height velocity of patients with confirmed celiac disease before their diagnosis and treatment, anthropometric measurements taken by the general pediatricians in charge of the primary care of the patients before they were sent to the authors' hospital were studied. Forty-two growth periods (available velocities) were measured at varying intervals (ranging from 6 to 27 months) in 23 patients aged 0.1 to 10.66 years were analyzed. RESULTS: All patients studied during the first semester of life (n = 5) showed normal growth velocity, and 6 of 10 patients showed normal growth velocity during the second semester of life. Ten of 12 patients between the ages of 1.0 and 1.99 years of age showed normal height velocity, and 7 of 9 patients aged 2.0 to 10.66 years showed normal height velocity. Normal height velocities were found not only during the first year of life, but also in children aged 1 to 8 years. CONCLUSIONS: Results should alert pediatricians and those in gastroenterology and growth clinics. In the latter case, norms for studying children who have short stature but are growing at a normal rate should not be a condition for excluding a child from screening for celiac disease.

A countrywide programme of continuing professional development in Argentina. Argentine Society of Paediatrics, Subcommittee of Continuing Paediatric Education.

The Argentinean Society of Paediatrics introduced in 1993 a continuing professional development (CPD) programme to raise standards of clinical practice. The aims of the project were to introduce a structured, distance learning programme accessible to all paediatricians in the country, but especially for those working far from centres of paediatric excellence. The programme is planned on an annual basis. It includes four activities: a written manual designed by a team of medical experts and educationalists comprising 12 topics; field work for participants; annual meetings in several locations in the country for discussion of the subjects; and an evaluation based on centrally designed multiple choice questions distributed by mail. In spite of a registration free of 90 Pounds a year, participation in the programme increased from 3357 in 1993 to 4126 in 1996, from a membership of 10 216 paediatricians in Argentina. The popularity of the programme may result from an appropriate interpretation of professional needs of paediatricians in Argentina, adequate organisational arrangements that reach all colleagues, including those working in remote areas, and a genuine motivation of paediatricians for participating in a learning process.