Fatty acids, vitamins and cholesterol content, and sensory properties of cheese made with milk from sheep fed rapeseed oilcake.

The aim of the present study was to evaluate the influence of rapeseed oilcake used for feeding sheep on the content of fatty acids (FA), tocopherols, retinoids, and cholesterol of milk and cheese, and on the sensory properties of cheese. Indoor animal feeding (in winter) is the highest cost of production for cheesemakers, and the inclusion of locally produced rapeseed oilcake in the concentrate feed formulation can reduce the cost of cheese production, as long as the quality of the cheese is not altered. The experiment was carried out in March (mid lactation) with 72 Latxa sheep from an experimental farm located in the Basque Country (northern Spain). Two homogeneous groups of animals (n = 36) were set to receive each a different diet based on commercial or rapeseed concentrate, respectively, and forage (Festuca hay). Animal production parameters were individually recorded for each feeding group, whereas bulk milk from each group was used for cheesemaking trials. The rapeseed concentrate had higher amounts of unsaturated FA (mainly C18:1 cis isomers, C18:2 cis-9,cis-12 and C18:3 cis-9,cis-12,cis-15) and tocopherols than the commercial concentrate. The inclusion of rapeseed oilcake in the diet of dairy sheep did not compromise animal production parameters or milk gross composition. Bulk milk and cheese from sheep fed rapeseed concentrate showed higher content of unsaturated FA and tocopherols than those from sheep fed commercial concentrate. No differences were observed in the content of retinoid in milk and cheese between feeding groups, whereas the cholesterol content was slightly lower in cheese made with milk from sheep fed rapeseed concentrate. Thus, milk and cheese from sheep fed rapeseed concentrate had a healthier lipid profile. In addition, the inclusion of rapeseed oilcake in the diet of sheep did not change the typical sensory attributes of Protected Denomination of Origin Idiazabal cheese. Therefore, rapeseed concentrate could be a good local resource for feeding sheep to improve the nutritional quality of dairy products and to provide higher returns to farms.

Deficiencia de hormona de crecimiento (GH) en la edad pediátrica / Growth hormone (GH) deficiency in the pediatric age

La deficiencia de hormona de crecimiento (DGH) provoca manifestaciones clínicas distintas, según su etiología y la etapa del desarrollo, pero siempre existe un denominador común: Las otras manifestaciones clínica dependerán d ela etiología (genética, adquirida o idiopática), de la intensidad de la deficienica y de si es la única hormona hipofisaria afectada o existe afectación de otras hormonas hipofisarias. Los avances de los últimos años han ampliado el conocimiento de sus bases moleculares y han caracterizado mejor las formas adquiridas. Sin embargo, la mayor parte de DGH no tienen una causa conocida y son catalogadas como idiopáticas. Mientras que los criterios clínicos y moleculares del diagnóstico de DGH están bien establecidos, los criterios hormonales continúan siendo un rompecabezas a esar de los esfuerzos realizados para armonizar las técnicas bioquímicas de análisis de GH y de IGF-1. Los diagnósticos basados en los estímulos secretores de GH han demostrado ser la escasa utilidad clínica para predecir la respueta terapéutica a la GH (AU)

Growth hormone (GH) deficiency manifests differently according to the individual´s developmental stage. During the paediatric period, one of the msot prominent clincial features is chronic skeletal growth retardation. Clinical signs also depend on the cause (genetic, acquired or idiopathic), deficiency intensity and whether GH is the only pituitary-affected hormone or is combined with that of other pituitary hormones. Growing knowledge of the genetic basis of GH deficiency continues to provide us with useful information to further characterise to provide us with useful information to further characterise mutation types and mechanisms for prevously-described and new candidate genes. Despite these advances, a high proportion of GH deficiencies with no recognisable acquired basis continue to be labelled as idiopathic. The hormonal diagnoses continue to be a conundrum despite efforts to harmonise biochemical assays for GH and IGF-1 analysis, and the diagnosis based on the so-called GH secretion stimulation tests with prove to be of limited usefulness for predicting response to GH therapy (AU)

Height gain at adult-height age in 184 short patients treated with growth hormone from prepubertal age to near adult-height age is not related to GH secretory status at GH therapy onset.

BACKGROUND: GH release after stimuli classifies short children as severe idiopathic isolated GH deficiency (IIGHD), mild IIGHD, dissociated GH release (DGHR) and normal GH release (NGHR) and anthropometric birth data as adequate for gestational age (AGA) or small for gestational age (SGA). GH release after stimuli classifies AGA patients as IIGHD or as idiopathic short stature (ISS). AIM: To compare height gain induced by GH therapy (31.8 ± 3.5 µg/kg/day, 7.7 ± 1.6 years) started at prepubertal age and stopped at near adult-height age. METHODS: A retrospective longitudinal multicenter study including 184 short patients classified as severe IIGHD n = 25, mild IIGHD n = 75, DGHR n = 55 and NGHR n = 29; or as IIGHD n = 78, ISS n = 57 and SGA n = 49. Height gain was evaluated throughout GH therapy and at adult-height age. RESULTS: Height-SDS gain at adult-height age was similar among severe IIGHD (1.8 ± 0.8 SDS), mild IIGHD (1.6 ± 0.6 SDS), DGHR (1.7 ± 0.7 SDS) and NGHR (1.6 ± 0.7 SDS), or among IIGHD (1.7 ± 0.7 SDS), ISS (1.7 ± 0.6 SDS) and SGA (1.6 ± 0.8 SD). CONCLUSION: GH-release stimuli are of little help for deciding on GH therapy in the clinical management of prepubertal children with IIGHD, ISS or SGA.

Evaluation of sensory quality of calf chops: a new methodological approach.

A new method to evaluate the sensory quality of calf chops was developed by discussion with experts. Resulting method comprised four parameters: quality related to odor, texture, flavor and persistence. For each parameter, the sensory characteristics perceived are marked and, by using decision trees, corresponding quality is directly scored, so making the assessment more objective. Global sensory quality is calculated by weighting these four partial qualities. Due to sensory characteristic collection, the method also provides an exhaustive description of each sample. To check the appropriateness of the method, 127 calf chop samples were evaluated by a panel specifically trained to apply it. Results confirmed the suitability of the method to describe the samples and differentiate among them according to their quality level. This innovative approach can be very useful for quality control and also to study the effects of different factors on meat sensory quality.

Contribution of human growth hormone-releasing hormone receptor (GHRHR) gene sequence variation to isolated severe growth hormone deficiency (ISGHD) and normal adult height.

OBJECTIVE: Molecular causes of isolated severe growth hormone deficiency (ISGHD) in several genes have been established. The aim of this study was to analyse the contribution of growth hormone-releasing hormone receptor (GHRHR) gene sequence variation to GH deficiency in a series of prepubertal ISGHD patients and to normal adult height. DESIGN, SUBJECTS AND MEASUREMENTS: A systematic GHRHR gene sequence analysis was performed in 69 ISGHD patients and 60 normal adult height controls (NAHC). Four GHRHR single-nucleotide polymorphisms (SNPs) were genotyped in 248 additional NAHC. An analysis was performed on individual SNPs and combined genotype associations with diagnosis in ISGHD patients and with height-SDS in NAHC. RESULTS: Twenty-one SNPs were found. P3, P13, P15 and P20 had not been previously described. Patients and controls shared 12 SNPs (P1, P2, P4-P11, P16 and P21). Significantly different frequencies of the heterozygous genotype and alternate allele were detected in P9 (exon 4, rs4988498) and P12 (intron 6, rs35609199); P9 heterozygous genotype frequencies were similar in patients and the shortest control group (heights between -2 and -1 SDS) and significantly different in controls (heights between -1 and +2 SDS). GHRHR P9 together with 4 GH1 SNP genotypes contributed to 6·2% of height-SDS variation in the entire 308 NAHC. CONCLUSIONS: This study established the GHRHR gene sequence variation map in ISGHD patients and NAHC. No evidence of GHRHR mutation contribution to ISGHD was found in this population, although P9 and P12 SNP frequencies were significantly different between ISGHD and NAHC. Thus, the gene sequence may contribute to normal adult height, as demonstrated in NAHC.

SRD5A2 gene mutations and polymorphisms in Spanish 46,XY patients with a disorder of sex differentiation.

One hundred and forty-six index patients with 46,XY DSD in whom gonads were confirmed as testes were consecutively studied for a molecular diagnosis during the period 2002-2010. AR gene was analysed in all patients as the first candidate gene, yielding a mutation in 42.5% of cases and SRD5A2 gene was analysed as the second candidate gene, resulting in the characterization of 10 different mutations (p.Y91D, p.G115D, p.Q126R, p.R171S, p.Y188CfsX9, p.N193S, p.A207D, p.F219SfsX60, p.R227Q and p.R246W) in nine index patients (6.2% of the total number of 46,XY DSD patients). One of the mutations (p.Y188CfsX9) has never been reported. In addition, we genotyped SRD5A2 gene p.V89L and c.281+15T>C polymorphisms in 46,XY DSD and in 156 normal adult males and found that patients with SRD5A2 mutations or without a known molecular diagnosis presented a higher frequency of homozygous p.L89, homozygous TT and combined CCTT genotypes compared with controls. This result suggests that 46,XY DSD patient phenotypes may be influenced by SRD5A2 polymorphism genotypes. SRD5A2 gene mutations may not be as infrequent as previously considered in 46,XY DSD patients with variable degrees of external genitalia virilization at birth and normal T production and appears to be the second aetiology in our series.

Growth hormone secretory status evaluated by growth hormone peak after two pharmacological growth hormone release stimuli did not significantly influence the two-year catch-up growth induced by growth hormone therapy in 318 prepubertal short children with idiopathic growth retardation.

BACKGROUND/AIMS: In prepubertal short children with idiopathic growth retardation, growth hormone (GH) peak after GH release stimuli classifies patients as growth hormone- deficient (GHD) or non-GHD. This study compared a 2-year growth response to GH therapy in 318 prepubertal short children. METHODS: Patients were classified as: severe GHD (GH peaks <5 ng/ml after 2 stimuli; n = 54), mild GHD (GH peaks <10 ng/ml, but one or two between 5 and 10 ng/ml; n = 140), dissociated GH release (GH peak ≥ 10 ng/ml after 1 stimulus and <10 ng/ml after the other; n = 89), and normal GH release (GH peaks ≥ 10 ng/ml after 2 stimuli; n = 35). RESULTS: Two-year height gain did not differ statistically among the 4 groups: 1.39 ± 0.51 SD, 16.4 ± 2.3 cm; 1.23 ± 0.56 SD, 15.8 ± 2.1 cm; 1.18 ± 0.53 SD, 15.3 ± 2.0 cm, and 1.14 ± 0.53 SD, 15.4 ± 2.0 cm, respectively, as was also the case for bone age gain: 2.5 ± 0.6, 2.4 ± 0.7, 2.6 ± 0.7 and 2.3 ± 0.5 years, respectively. CONCLUSIONS: Our results suggest that GH release stimuli are of little help for deciding on GH therapy in the clinical management of prepubertal short children with idiopathic growth retardation, while well-defined anthropometric and biochemical criteria may be useful.

Effects of seasonal changes in feeding management under part-time grazing on the evolution of the composition and coagulation properties of raw milk from ewes.

Ewe raw milk composition, rennet coagulation parameters, and curd texture were monitored throughout the milk production season in 11 commercial flocks reared under a part-time grazing system. Milking season lasted from February to July. During that period, the diet of the animals shifted from indoor feeding, consisting of concentrate and forage, to an outdoor grazing diet. Lean dry matter, fat, protein, calcium, and magnesium contents increased throughout the milking season, as did rennet coagulation time, curd firmness, and curd resistance to compression. However, lean dry matter, protein content, and curd resistance to compression stabilized when sheep started to graze. Principal component analysis correlated curd resistance to compression and proteins, whereas curd firmness was highly correlated with fat content and minerals. Discriminant analysis distributed milk samples according to the feeding management. Curd firmness, fat, and magnesium turned out to be discriminant variables. Those variables reflected the evolution of the composition and coagulation parameters when fresh pasture prevailed over other feeds in the diet of the flocks. The present study shows that seasonal changes associated with feeding management influence milk technological quality and that milk of good processing quality can be obtained under part-time grazing.

Retinol-binding protein 4 levels in obese children and adolescents with glucose intolerance.

BACKGROUND: Retinol-binding protein 4 (RBP4) is known to be involved in obesity-associated insulin resistance. AIMS: To study the relationships between the degree of adiposity, insulin resistance indices, plasma lipids, inflammatory parameters, glucose intolerance (GI) status and plasma RBP4 levels in obese children and adolescents. PATIENTS AND METHODS: Prospective study comprising 199 obese patients (95 boys) aged 8-16 years (11.8 +/- 1.9). Fifty-three subjects (23 boys) of similar mean age, 11.3 +/- 2.1 years, served as controls. BMI, waist and hip circumferences, plasma lipids, and inflammatory parameters were measured and patients underwent an oral glucose tolerance test. Plasma RBP4 levels were determined by nephelometry. RESULTS: Plasma RBP4 levels (pg/ml) in obese patients with GI (n = 15) were higher (45.0 +/- 14.1) compared with those of obese patients without GI (35.9 +/- 11.7, p = 0.02; n = 184) and controls (31.5 +/- 12.3, p = 0.04) in a generalized linear model adjusted for age, sex, BMI and pubertal status. A negative correlation was found between the skeletal muscle insulin resistance index and RBP4; positive correlations were found between the RBP4 and BMI Z-score (r = 0.213, p < 0.001), waist circumferences (r = 0.135, p < 0.05), plasma triglycerides (r = 0.187, p = 0.005) and apolipoprotein B (0.187, p = 0.007). CONCLUSIONS: Our results suggest a direct relationship between circulating insulin and RBP4 levels, which indicates that this protein might contribute to the development of muscle insulin resistance.

Novel (60%) and recurrent (40%) androgen receptor gene mutations in a series of 59 patients with a 46,XY disorder of sex development.

BACKGROUND: Androgen receptor (AR) gene mutations are the most frequent cause of 46,XY disorders of sex development (DSD) and are associated with a variety of phenotypes, ranging from phenotypic women [complete androgen insensitivity syndrome (CAIS)] to milder degrees of undervirilization (partial form or PAIS) or men with only infertility (mild form or MAIS). OBJECTIVE: The aim of the study was to characterize the contribution of the AR gene to the molecular cause of 46,XY DSD in a series of Spanish patients. SETTING: We studied a series of 133 index patients with 46,XY DSD in whom gonads were differentiated as testes, with phenotypes including varying degrees of undervirilization, and in whom the AR gene was the first candidate for a molecular analysis. METHODS: The AR gene was sequenced (exons 1 to 8 with intronic flanking regions) in all patients and in family members of 61% of AR-mutated gene patients. RESULTS: AR gene mutations were found in 59 individuals (44.4% of index patients), of whom 46 (78%) were CAIS and 13 (22%) PAIS. Fifty-seven different mutations were found: 21.0% located in exon 1, 15.8% in exons 2 and 3, 57.9% in exons 4-8, and 5.3% intronic. Twenty-three mutations (40.4%) had been previously described and 34 (59.6%) were novel. CONCLUSIONS: AR gene mutation is the most frequent cause of 46,XY DSD, with a clearly higher frequency in the complete phenotype. Mutations spread along the whole coding sequence, including exon 1. This series shows that 60% of mutations detected during the period 2002-2009 were novel.

Ezetimibe as monotherapy in the treatment of hypercholesterolemia in children and adolescents.

BACKGROUND: A prospective study was conducted to evaluate low-density lipoprotein-cholesterol (LDL-C) lowering efficacy and tolerability of ezetimibe as monotherapy in children and adolescents with polygenic hypercholesterolemia (PH) or familial hypercholesterolemia (FH). METHODS AND RESULTS: Children with PH (n=6) or FH (n=11) aged 5-15 years were consecutively enrolled to receive ezetimibe as monotherapy at 10 mg/day for 11.3 +/- 7.3 and 15.9 +/- 10.1 months, respectively. Plasma biochemical and lipid profiles were assessed before and after treatment. Ezetimibe significantly lowered total cholesterol (TC) and LDL-C in patients with PH and FH: TC from 260.5 +/- 12.4 to 180.0 +/- 21.6 mg/dl (p = 0.02) and from 315.3 +/- 41.8 to 233.3 +/- 36.8 mg/dl (p = 0.003), respectively, and LDL-C from 177.1 +/- 17.7 to 102.6 +/- 16.7 mg/dl (p = 0.02) and from 243.0 +/- 41.8 to 170.0 +/- 29.8 mg/dl (p = 0.003), respectively. However, high-density lipoprotein-cholesterol (HDL-C) only decreased significantly (from 58.1 +/- 10.0 to 49.3 +/- 9.1 mg/dl) (p < 0.01) in patients with FH and remained unaltered in patients with PH. Triglyceride levels remained unchanged in both groups. Biochemical profile (hemogram, transaminases, creatinine, calcium, phosphorus and liposoluble vitamins A and E) remained unchanged; no adverse effects were observed. CONCLUSIONS: Our data show that ezetimibe as monotherapy significantly lowered TC and LDL-C in children with PH and FH.

The exon 3-deleted/full-length growth hormone receptor polymorphism did not influence growth response to growth hormone therapy over two years in prepubertal short children born at term with adequate weight and length for gestational age.

CONTEXT: Consensus is lacking as to whether the exon 3-deleted (d3)/full-length (fl) GH receptor (GHR) polymorphism is associated with responsiveness to GH therapy. OBJECTIVE: Our objective was to evaluate, in short, prepubertal, appropriate-for-gestational age (AGA) patients, 2-yr growth response to GH therapy (31.7+/-3.5 microg/kg.d) according to exon 3-deleted/full-length GHR genotypes. DESIGN: We conducted a retrospective study. PATIENTS: We studied 106 short AGA children, 58 boys and 48 girls, 7.8+/-2.3 yr, (d3/d3 n=18, d3/fl n=42, and fl/fl n=46). The GH response to two provocative stimuli were under 10 ng/ml in 65 and one or both over 10 ng/ml in 41 patients. MAIN OUTCOME MEASURES: Patients were followed by a single clinical team and remained prepubertal during the study. The exon 3-deleted/full-length GHR genotypes were determined and analyzed in the same hospital. RESULTS: Growth velocity significantly (P<0.0001) increased during the first and second years of therapy, as did height sd score (SDS). These increases were similar in each exon 3-deleted/full-length GHR genotype. Total 2-yr height gain (SDS) did not differ statistically among genotypes: 15.5+/-2.2 cm and 1.2+/-0.5 SDS in d3/d3, 15.9+/-2.0 cm and 1.3+/-0.4 SDS in d3/fl, and 15.4+/-2.1 cm and 1.1+/-0.3 SDS in fl/fl. No significant differences among the three genotypes were found in both sexes or in patients with different GH peak response to provocative stimuli for these parameters. An analysis of previously published studies was also performed. CONCLUSIONS: These results confirm in AGA patients those previously found by us and others in small-for-gestational-age patients and suggest that neither sex nor GH peaks after provocative stimuli might influence significantly the responsiveness to GH therapy according to the exon 3-deleted/full-length GHR genotypes.

Inserción velamentosa de cordón umbilical. Rotura intraparto / Velamentous insertion of umbilical cord. Intrapartum rupture

La inserción velamentosa de cordón es aquella situación en la que los vasos umbilicales se separan en las membranas a cierta distancia del margen placentario, que alcanzan rodeados sólo por un pliegue del amnios. Su desgarro o rotura suponen una urgencia obstétrica. Ante la sospecha diagnóstica se debe realizar una extracción fetal inmediata. Presentamos un caso de rotura intraparto de vasos umbilicales en una inserción velamentosa de cordón, con buen resultado perinatal (AU)

Umbilical cord insertion in the placenta is considered normal if it occurs inside the placental tissue. When this insertion is just in the edge (marginal) or beyond (velamentous), the umbilical cord is connected to the placenta only through its blood vessels, coated by the amniotic membrane, without the protection of Wharton's gelatin. Because of this lack of protection, the umbilical vessels may tear before or during delivery, provoking an obstetric emergency. We present a case of velamentous insertion of umbilical vessels and rupture during delivery with a favorable perinatal outcome (AU)

Aplasia cutis congénita y feto papiráceo en embarazo gemelar monocoriónico / Aplasia cutis congenita with fetus papyraceus in a monochorionic twin pregnancy

Presentamos un caso clínico de aplasia cutis congénita en un recién nacido de un embarazo gemelar monocoriónico con feto papiráceo a las 14 semanas. Una revisión de la bibliografía parece soportar la hipótesis de que la existencia del feto papiráceo pueda ser la causa de esta patología en el neonato, consecuencia del “síndrome de embolización gemelar”

We report a case of aplasia cutis congenita in one twin of a monochorionic twin pregnancy with fetus papyraceus at 14 weeks. A review of the literature seems to support the hypothesis that the fetus papyraceus could be the cause of this entity in the neonate as a consequence of “twin embolization syndrome”

Carcinoma mamario infiltrante tras mastectomía subcutánea / Infiltrating breast cancer alter subcutaneous mastectomy

Aunque la mastectomía subcutánea es una técnica quirúrgica que pretende eliminar todo el tejido mamario macroscópico, conservando el complejo areola-pezón, suele quedar tejido glandular residual en la zona retroareolar, cola de mama y colgajos cutáneos. Por consiguiente, existe la posibilidad de desarrollar carcinoma mamario en este tejido residual. Describimos un caso de carcinoma mamario infiltrante en una paciente en la que previamente se le había realizado una mastectomía subcutánea por presentar un carcinoma intraductal extenso tipo comedo en el seno de un fibroadenoma, que sobrepasaba la cápsula de éste

Although subcutaneous mastectomy aims to remove the entire macroscopic breast gland while conserving the nipple-areola complex, some residual glandular tissue usually remains in the nipple, subareolar region, axillary tail and skin flaps. Consequently, there is a risk of developing breast cancer in the residual tissue. We describe the case of a patient with infiltrating breast cancer who had previously undergone subcutaneous mastectomy for an extensive comedo-type intraductal carcinoma within a fibroadenoma that spread through the fibroadenoma capsule

Tumor phyllodes maligno con estroma liposarcomatoso / Malignant phyllodes tumour with liposarcomatous stroma

No disponible

Brining time effect on physicochemical and microbiological parameters in Idiazábal cheese.

Physicochemical and microbiological parameters were compared for three brining times (12, 24 and 36 h) for fresh, young, semihard and hard Idiazabal cheese. Longer brining time produced higher salt, dry matter and salt-moisture ratio and lower water activity values for all types of cheese according to ripening time, while non-significant changes were observed for pH. In fresh cheese (1-15 days ripening), non-significant differences for microbiological counts in relation to brining time were observed, except for moulds. In young and hard cheeses, Lactobacillus and Leuconostoc showed lower counts with longer brining times. In contrast, Micrococaceae, yeast and moulds were stimulated by higher salt content in matured cheeses. In addition. this work has proved that there are lower water activity values and lower microbiological counts in longer-matured Idiazabal cheeses. For the different brining and ripening times, positive correlations were observed among most of the microbial groups studied, but a different behavior was established for Enterococcus, Clostridium tyrobutyricum, yeast and moulds.

Diagnosis and treatment in utero of goiter with hypothyroidism caused by iodide overload.

A fetal goiter was detected by ultrasonography in a woman receiving potassium iodide. After this medication was discontinued at 29 weeks, a fetal hypothyroidism was confirmed by cordocentesis, and two doses of levothyroxine were administered by amniocentesis. At 34 weeks repeated cordocentesis showed fetal euthyroidism and ultrasonography shrinkage of the goiter. Growth and development normal at 1 year.

[Adult height, pattern of growth and pubertal development in patients with congenital adrenal hyperplasia, salt losing form]. / Talla adulta, patrón de crecimiento y desarrollo puberal en pacientes con hiperplasia suprarrenal congénita, forma perdedora de sal.

BACKGROUND: The height growth pattern in 24 patients with the salt-wasting from of congenital adrenal hyperplasia was retrospectively evaluated from the neonatal period to attainment of adult height. PATIENTS AND METHODS: All patients were on mineralcorticoid therapy and received hydrocortisone (mg/m2 body surface and day. Mean +/- SD): 34.53 +/- 8.2 during the first year of life, 22.83 +/- 4.1 from then to the puberty onset and 21.83 +/- 3.6 during puberty. Height was measured every 3-4 months and compared with that of the normal age- and sex-matched controls. RESULTS: Height differences with respect to reference population (M +/- SD) were: +0.38 +/- 0.82 in the neonatal period; -2.21 +/- 1.1 at one year of age; -0.76 +/- 1.25 at three years of age; -0.45 +/- 0.99 at the onset of puberty and -1.34 +/- 0.79 at attainment of adult height. Adult height differed significantly (p < 0.01) from control values and in girls from those of their mothers (p < 0.05). Hyperandrogenism, evaluated through urinary 17-ketosteroids, testosterone, delta 4 androstenedione and DA-S, was not documented during prepuberty and puberty. CONCLUSIONS: Our patients showed a lower growth rate than those of the control population during the two periods of higher growth potentiality: the first year of life and puberty, and this results in adult height impairment.

[Evaluation of the efficacy of chelation therapy with deferoxamine in patients with thalassemia major]. / Valoración de la eficacia del tratamiento quelante con desferrioxamina en pacientes afectados de talasemia maior.

BACKGROUND: The current treatment of thalassaemia maior (TM) is based on a hypertransfusion regimen, with deferoxamine (DFO) chelation therapy to minimize the consequences of iron overload. To evaluate the long-term efficacy of chelation therapy, a group of 9 patients treated for a period of 9 years was studied. METHODS: The mean age of patients at the beginning of chelation therapy was 7 years. The age range at the moment of the study was 11 to 21 years. Pre-transfusion haemoglobin values were maintained above 10 gr/dl. DFO was administered by 10-hour sub-cutaneous infusion, 5 or 6 days a week at a dose of 40 mg/kg. Different iron overload parameters were considered, with special attention to cardiac function, growth and endocrinologic development. Signs of DFO toxicity were also studied. RESULTS: The final mean iron elimination rate was 72.6%. One patient died from cardiac haemosiderosis. Eight of the 9 patients showed significant growth impairment and 7, who have attained puberal or post-puberal age, suffer from one or more endocrinologic disorders (6 hypogonadism, 2 diabetes mellitus, 2 hypothyroidism and 1 hypoparathyroidism). The only toxic effect observed was transient crystalline opacity in 2 patients. CONCLUSIONS: Despite the early initiation of chelation therapy, TM patients receiving hypertransfusion regimen showed iron overload, with myocardiopathy, growth retardation and several endocrinologic disorders, mainly secondary hypogonadism, glucose metabolism disfunction and primary hypothyroidism.