Biotinidase deficiency: result of treatment with biotin from age 12 years.

A boy with severe symptoms of biotinidase deficiency diagnosed at the age of 12 years showed a remarkable improvement of his neurological picture and normalization of brain magnetic resonance imaging abnormalities when prescribed oral biotin.

Evolution of height and bone age in primary congenital hypothyroidism.

Thyroid hormones are fundamental for growth and bone maturity. Retarded physical and osseous development signals congenital hypothyroidism. This study assessed the evolution of height and bone age and final height after hormone replacement treatment in 25 patients with primary congenital hypothyroidism. Bone ages, measured periodically for 12 years after treatment began, were expressed as standard deviation scores (SDS) corresponding to chronologic age. Heights were expressed as SDS and related to standardized curves and genetic height. All patients experienced height recovery during the first year. Of 19 patients who reached their final height, 16 surpassed the expected mean for genetic height. Bone age accelerated progressively, with total recovery toward the third year, and remained accelerated, reaching +1.43 +/- 1.27 in relation to chronologic age 12 years after hormone replacement began. Thus, early diagnosis and adequate treatment of congenital hypothyroidism improved growth and osseous development, although progressive acceleration of bone age may have limited final height in some children.

[Sporadic primary hypothyroidism in children yesterday and today]. / Hipotiroidismo primario esporádico en la infancia ayer y hoy.

The evolution of congenital primary hypothyroidism has extremely capitalized on early L-T4 substitutive therapy, as a result of neonatal screening techniques, that allow early diagnosis. However, IQ and neurodevelopment of patients diagnosed and treated in this manner are yet quite different from those normal controls. Latest efforts to achieve precocious neonatal diagnosis have led to earlier initiation of treatments. These circumstances, in addition to the use of higher L-T4 doses (between 10 and 15 micrograms/Kg/day) have permitted to improve clinical responses, in terms of QI and neurodevelopment. Still concern remains about the potential late side effects of high L-T4 doses, that could promote conduct and behavior alterations in these patients in the coming years; in this regard, some suspicions have been shown.

[The secular trend in growth]. / Tendencia secular del crecimiento.

The secular changes in growth of the Spanish male population throughout the current century are presented. Data are adult mean height: 163.4 cm in 1910 and 174.5 cm in 1995. The increase was produced after 1950 and specially after 1965. From this last date, the increase by decade was between 2 and 2.9 cm. Lately the increase is gone on but more slowly. It was possible establish a direct relationship between height and culture and income of population. Maturation of female was studied using the menarcheal age. In 1998 it was 12.5 years. The menarcheal ag is now 0.3 years before than 15 years ago.

Essential fatty acids in phosphoglycerides of human milk. Milk from mothers of term and preterm infants.

35 milk samples from 19 women giving birth between 28 and 41 weeks of gestation were studied. The samples were collected on the 3rd, 10th and 21st postpartum days. The phosphatidylethanolamine and phosphatidylcholine fatty acids were analyzed. In this report the proportion of linoleic acid is shown to be significantly lower in colostrum from mothers giving birth prematurely in comparison to colostrum from mothers giving birth at term. No other differences were found in relation to post conception age.

[Accuracy of three methods of height prediction in a group of variant short stature children]. / Fiabilidad de tres métodos de predicción de talla adulta en un grupo de tallas bajas variantes de la normalidad.

OBJECTIVE: The objective of this study was to determine how accurately three methods of height prediction estimate adult height in a group of 27 boys and 16 girls with untreated short stature who have reached adult height. Twenty of the patients were considered to have familial short stature, 8 constitutional delay of growth and puberty, 12 a combination of both conditions and 3 idiopathic short stature. PATIENTS AND METHODS: Height predictions at various chronological ages were retrospectively compared to final adult height according to the Tanner-Whitehouse Mark I, Bayley-Pinneau and Roche-Wainer-Thisen methods. Heights were expressed as centimeters and standard deviation scores (SDS) and related to Tanner standardized curves. RESULTS: The final heights reached were significantly below the target height [-2.0 (0.5) SDS versus -1.6 (0.6), p < 0.01]. The three methods over-estimated adult height. The Bayley-Pinneau method was especially accurate in girls and in familial short stature. The Tanner and Bayley-Pinneau predictions were similar in constitutional delay of growth and puberty. The Roche method gave the greatest errors in all groups. CONCLUSIONS: 1) Thee groups of normal variant short stature patients reached an adult height in the lower normal range. 2) The three method of height prediction over-estimated final height. 3) As in some pathological conditions, the Bayley-Pinneau was the most reliable method of height prediction in children with short stature. 4) These children may be considered as a historical group to evaluate the effect of growth-promoting therapies.

[Accuracy of the methods for height prediction in patients treated for congenital primary hypothyroidism]. / Fiabilidad de los métodos de predicción de la talla adulta en pacientes con hipotiroidismo congénito primario.

OBJECTIVE: The objective of this study was to determine how accurately three methods of height prediction (the Bayley-Pinneau, Tanner-Whitehouse Mark 1 and Roche-Wainer-Thissen methods) estimate adult height in a group of 17 girls and 7 boys treated for congenital primary hypothyroidism. PATIENTS AND METHODS: The patients were diagnosed at a mean chronological age of 1.2 years. Their thyroxine treatment dose ranged between 3.1 and 8.6 micrograms/kg/day. Height predictions at various chronological ages were retrospectively compared to final adult height. The first prediction was made at a chronological age of 7.3(1.1) years, corresponding to the sixth year of treatment. Heights were expressed in centimeters and standard deviation scores (SDS) and related to Tanner standardized curves. RESULTS: The final heights reached were significantly higher than the target heights (-0.5 (0.7) SDS vs -1.1 (0.9) SDS, p < 0.01). The three methods accurately estimated adult height. Tanner and Bayley-Pinneau height predictions were similar. The Roche method over-predicted height at all chronological ages with a mean error which ranged between +2 (3.2) centimeters and +2.8 (2.1) centimeters. CONCLUSIONS: 1) The patients who were diagnosed and treated early for congenital primary hypothyroidism reach an adult height in the normal range, which is probably related to the total recovery of their retarded bone age. 2) In this pathological condition, the Bayley-Pinneau and Tanner-Whitehouse Mark 1 are the most reliable methods of height prediction.

Intoxication caused by ingestion of rape oil denatured with aniline.

One hundred seventy children, 16 months to 14 years of age, were intoxicated by the ingestion of rape oil denatured with aniline. The most frequent findings were fever, itch, adenopathy, hepatomegaly, and varied exanthems. A few weeks after the onset of the disease, more than a third of the patients experienced a syndrome similar to scleroderma. After more than nine months, three patients were found to be seriously impaired. Two girls died of measles contracted during the course of the intoxication. Prednisone caused dramatic and rapid symptomatic relief.

[Neonatal hyperthyroidism and thrombopenic purpura]. / Hipertiroidismo neonatal y púrpura trombopénica.

A seventeen year old woman developed Graves disease and did not receive any sort of treatment. During pregnancy high levels of thyroid hormones and thyrostimulant antibodies were discovered. The newborn infant showed a typical pattern of neonatal thyrotoxicosis in which the most outstanding feature was the presence of generalized purpura.

[Diabetes mellitus]. / Diabetes mellitus.

Some of the most outstanding features of Juvenile Diabetes Mellitus in adolescence are revised in this paper and have been established in a group of 38 affected children controlled in the Department in the past years. The relationship between determined epidemiologic and etiopathogenic factors, as the age in which the disease appears, the sex or the presence of concrete HLA antigens with the clinical expression, evolution and prognosis of the Diabetes Mellitus is underlined. Likewise, some problems about acceptance of the disease, fulfillment of the diet or the self-control that are usually manifested during adolescence are commented.

[Alpha-fetoprotein and neonatology: Postnatal estimation of gestational age and idiopathic respiratory distress syndrome (author's transl)]. / Alfa fetoproteína en neonatología6 valoración de la edad gestacional y en el síndrome de dificultad respiratoria idiopático

Cord serum AFP levels have been determined in 66 newborn samples, between 30 to 42 weeks of gestational age. Results showed some relation between AFP rate and newborn maturity degree, so it was possible to foresay the gestational age with some limits of error +/- 17 days in full-term newborn, and +/- 10 days in premature ones. Cuantification in the amniotic fluid of 18 high risk gestation gave normal AFP rates. AFP of thirty patients with respiratory distress was tested. An AFP increase was present in 14 of 15 cases of hyaline membrane. On the remaining 15 cases of respiratory distress only 3 gave high levels. These facts point that AFP can be used as a suitable parameter in the biochemical diagnosis of hyaline membrane.

[Treatment of juvenile rheumatoid arthritis (author's transl)]. / Tratamiento de la artritis reumatoide juvenil.

A revision of the treatment of the juvenile chronic arthritis (JCA) is made, Salicylates, still in use, require control of the salicylate level in order to obtain a higher efficiency and to prevent toxicity. New drugs appeared in the last years (by-products of propionic acid, tolmetin acid, fenclofenic...), are useful as an alternative for salicylates and with very little toxicity. Steroid therapy has to be reserved for serious systemic illness only, and slow acting drugs as antimalarials, gold and pencillamine, were only used in those cases with severe persistant activity and in cases of corticosteroid dependents. Use of the immunosuppressive therapy, is justified only in exceptional cases. Immunostimulants (transfer factor, Levamisol) are still in experimental phase. Presentation of the last five years' experience of the Pediatric Department is given. It concerns 25 cases of JCA, 5 systemic forms, 9 polyarticular and 11 forms of pauci-articular. Therapy is based on the predominant use of aspirin and on steroid therapy for the system forms. The efficiency of the treatment is not easy to evaluate regarding consideration of the unpredictable evaluation of the illness.

Comparative functional study of colostral macrophages from mothers delivering preterm and at term.

Number and function of milk macrophages (MM) from 30 healthy mothers delivering preterm (mean gestational age 33 weeks) were compared with those obtained from 92 mothers with term delivery. The average concentration of MM in colostrum did not differ in the two groups: 0.55 x 10(6)/ml (preterm) and 0.42 x 10(6)/ml (term). Preterm MM showed the same activity as term MM in all three assayed functions (phagocytosis, chemotaxis and IL-1 secretion). Phagocytic activity, and impaired migratory motility and IL-1 secretion were significantly increased both in preterm and term MM in comparison with the activity in less mature blood monocytes. Thus it appears that preterm MM are, like term MM, a fully mature tissue macrophage population and therefore we suggest that with regard to MM both preterm and term colostrum are comparable, at least in the gestational age tested.

[Effects of high-frequency ventilation on the intracranial pressure and cerebral elastance in dogs]. / Efectos de la ventilación a alta frecuencia sobre la presión intracraneal y elastancia cerebral en perros.

We have evaluated the effects of the high frequency "jet" ventilation (HFJV) in 12 healthy dogs, under normal intracranial pressure (ICP) as well as under progressive Intracranial Hypertension (ICH). With a normal ICP, no significant differences were found in the mean ICP regarding the intermittent positive pressure ventilation (IPPV). However, during ICH the HFJV not only decreases the global cerebral elastance (CE), P/V curve with smaller slope, but also places the brain in an improved dynamic condition in the sense that, at an equal ICH level, the CE is lower, CE mean ICP relation having a significant difference (p less than 0.001).

[Bone mineral density in juvenile-onset diabetes mellitus]. / Densidad mineral ósea en la diabetes mellitus infantojuvenil.

OBJECTIVE: To determine bone mineral density (BMD) at axial and appendicular sites in patients with type 1 diabetes mellitus and evaluate its relationship with metabolic control and disease duration. PATIENTS AND METHODS: BMD was measured by dual-energy X-ray absorptiometry (Hologic QDR-1000) in the lumbar spine (L1-L4) and at the distal third forearm in 246 healthy non-diabetic children and adolescents (111 boys, 135 girls, aged 2.8-20.8 years) and in 45 diabetic patients (18 boys, 27 girls, aged 5.2-19.4 years). The results were expressed as the mean and standard deviation. The differences were tested by analysis of variance or Students t-test, as appropriate. The relationship between BMD and the remaining variables was studied by simple Pearsons coefficient and partial correlation coefficient. Significance was defined as p < 0.05. RESULTS: BMD Increased progressively from infancy to adulthood In both populations. Lumbar spine and forearm BMD were significantly lower in diabetic patients than in the healthy non-diabetic children, mainly during pubertal spurt. The greatest differences were found in males and in the trabecular bone. No relationship was found between metabolic control (mean glycosylated hemoglobin, insulin requirement) and duration of diabetes and the BMD in any region studied (p > 0.05). CONCLUSIONS: Pediatric patients with type 1 diabetes mellitus appear to constitute a population at risk of osteoporosis in adult-hood. Diagnosis of osteopenia diagnosis should be established according to densitometric criteria. In this study, metabolic control parameters and duration of diabetes did not enable predetermination of diabetic patients at risk of osteoporosis in adulthood.

[Forearm bone mineral density in healthy children]. / Densidad mineral ósea del antebrazo en niños sanos.

OBJECTIVE: In order to establish the normal patterns of forearm bone mineral density (BMD), BMD in the cortical and trabecular parts of the distal forearm were studied in a normal pediatric population. PATIENTS AND METHODS: BMD was measured by dual-energy X-ray absorptiometry (HOLOGIC QDR-1000) in the distal third forearm of 246 normal children and adolescents (111 boys and 135 girls) ranging from 2.8 to 20.8 years of age. BMD was correlated by multiple regression analysis with age, weight, body mass index (BMI), sex and pubertal Tanner stage. RESULTS: Forearm BMD increased progressively with age, weight, height, BMI and maturity, with the maximal increase in all forearm bone sites occurring at the onset of puberty in girls and boys. A statistically significant correlation was found between forearm BMD and all of these variables (r = 0.65 to 0.92). Mean BMD was higher in boys than in girls in cortical, trabecular and cortical-trabecular sites of the distal forearm. Maximal differences in BMD between boys and girls occurred at 17-18 years of age, especially the trabecular-dominated (ultradistal) part of the distal forearm (0.446 vs 0.384 g/cm2). CONCLUSIONS: Forearm BMD studies permit information of both cortical and trabecular bone mineralization to be obtained at the same time. This study reports normative data for forearm BMD in a healthy pediatric population. The values obtained may be used as a reference of normality when evaluating bone density in situations where skeletal mineralization may be compromised.