Deficiencia somatotrófica en niños: características clínicas y bioquímicas según la etiología en 75 casos / Somatotrophic deficiency in children: report of 75 cases

Somatotrophic deficiency (SDMT) can be due to a deficiency of growth hormone releasing hormone(GHRH), growth hormone (GH) or insulin like growth factor I (IGF-I). Although its clinical features have been thoroughly described, the diagnosis is still controversial. Now there is an effective treatment with GH or IGF-I for these patients. AIM: To analyze the main clinical, etiological and laboratory characteristics of 75 SD patients (44 males), aged 9.4 + 4.5 years, with severe growth retardation. The diagnosis was confirmed by the lack of response to two GH stimulation tests (Clonidine, Glugagon or Insulin) and low levels of IGF-I or insulin-like growth factor binding protein- 3 (IGFBP-3). RESULTS: In 34 patients (46 percent), the cause of DSMT was considered idiopathic (DSMT-I), in 31 (41 percent) there was an organic cause (DSMT-O), most commonly caused by malformations or pituitary tumors and in 10 (13 percent), it was genetic (DSMT-G) (three patients with Laron's Syndrome, five with mutations of GH gene and 2 with probable mutations of Prop-1 and Pit-1 genes). IGF-1 levels, were significantly lower in DSMT-O and DSMT-G thanin DSMT-I (21.2 +/- 46.1, 23.4 +/-30.3 ng/mL and 50.2 +/- 48.3 ng/mL, respectively). The lowest height score corresponded to DSMT-G, compared to DSMT-O and DSMT (­5.7 +/- 0.9, -4.0 +/- 1.6 and ­4.3 +/- 1.2 DS, respectively) CONCLUSIONS: The high percentage of organic and genetic etiologies in our patients can be due to the systematic search of these diseases. DSMT-G (Laron, mutations in GH and Pit-1 genes) had the most severe growth retardation.

Y chromosome sequences in Turner's syndrome: association with virilization and gonadoblastoma.

UNLABELLED: The presence of Y chromosome fragments in patients with Turner's syndrome is known to increase the risk of gonadoblastoma and virilization. Y chromosome material is detected in up to 6% of patients with Turner's syndrome by karyotype. By DNA analysis, Y chromosome sequences have been reported in 0-60% of patients. The putative gonadoblastoma gene has been mapped to the pericentromeric region of the Y chromosome increasing the interest in studying these sequences. AIMS: 1. To determine the frequency of occult Y chromosome sequences in patients with Turner's syndrome. 2. To analyze the clinical implications of Y sequences detected by karyotype and occult Y sequences. STUDY DESIGN: Cross-sectional study of 58 patients with Turner's syndrome (30 45,X; two with structural anomalies; 26 mosaic [two of whom were 45,X/46,XY]). SRY, TSPY and DYZ3 sequences were amplified by PCR using genomic DNA from peripheral blood. RESULTS: All three Y chromosome sequences were found in one out of 56 patients whose karyotype was not suggestive of having Y chromosome material and in one patient with 45,X/46,Xr(X) karyotype. The patients with the ring chromosome and 45,X/46,XY karyotype underwent surgery and were found to have a gonadoblastoma and dysgerminoma. The four patients with Y chromosome material had non-virilized female genitalia. CONCLUSIONS: Analysis by PCR was more sensitive in detecting Y chromosome sequences than conventional karyotype. The presence of Y material was not associated with virilization. We confirmed the association of Y fragments and gonadoblastoma at an early age.

[Detectig errors in chemotherapy prescription]. / Detección de errores en la prescripción de quimioterapia.

OBJECTIVE: To analyse errors detected in the prescription of cytostatic drugs. MATERIAL AND METHODS: Prospective study (February 1st to April 15th, 2002). All medical orders containing cytostatic agents were checked and 13 variables were studied: identification, anthropometric data, diagnosis, protocol, number of cycles, cytostatic drug, length of treatment, dose, route of administration, volume of infusion and/or final concentration, infusion time, diluent, and doctor's signature. Several possible errors were identified for each variable. Information on whether it was the first cycle, prescribing service, and prescription format was also recorded. RESULTS: In all, 618 medical orders were reviewed for a total of 1178 lines of cytostatic agents and 2,171 doses. The possible number of errors was 12.101 and the total number of errors actually found was 2,706 (22,03%). Not all these errors had the same impact on patients. Errors by omission were 2,340 (87,77%). Those which nursing staff found difficult to check and/or administer stood at 281 (10,54%). Potentially serious errors numbered 60 (2.06%): wrong body area > 10%: 5; wrong body area 5-10%: 2; erroneus protocol: 2; incorrect volume: 16; wrong dosage: 23 (difference < 25%: 5; difference 10-25%: 14; difference < 10%: 4). Reductions indicated but not implemented: 9; Inappropiate diluent: 3. There were no incorrect or omitted medications. CONCLUSION: The description of such errors and their uantification is a useful method of quality asurance in order to establish appropiate corrective measures. The most common error was the omission of information and therefore this issue, along with the development of computerised prescriptions, should be addressed.

Efficacy and safety of flexible-dose oral sildenafil citrate (Viagra) in the treatment of erectile dysfunction in Brazilian and Mexican men.

A 12-week, double-blind, placebo-controlled, multicenter study evaluated the efficacy and safety of flexible-dose sildenafil citrate (Viagra) treatment (25, 50 or 100 mg) in Brazilian and Mexican men with erectile dysfunction (ED) of broad-spectrum etiology. Efficacy was assessed on the basis of responses to the 15-item International Index of Erectile Function (IIEF) questionnaire, completed at baseline and after 12 weeks of treatment. At end point, mean scores for all IIEF domains of sexual function (erectile function, orgasmic function, sexual desire, intercourse satisfaction and overall satisfaction) were significantly (P<0.0001) higher in the sildenafil group (n=109) than in the placebo group (n=105). These findings confirm the significant increases in frequency of penetration and frequency of maintained erections reported previously. Sildenafil treatment was well tolerated. The most common adverse events were headache and flushing. In conclusion, sildenafil is a well-tolerated and effective treatment for ED of broad-spectrum etiology in Latin American men.

Comparison of the efficacy and safety of sildenafil citrate (Viagra) and oral phentolamine for the treatment of erectile dysfunction.

This open-label, multi-center study from Mexico compared the efficacy and safety of oral sildenafil and phentolamine in men with erectile dysfunction. Patients received sildenafil (25-100 mg; n=123) or phentolamine (40 mg; n=119) for 8 weeks, and efficacy was assessed using the International Index of Erectile Function (IIEF) as well as two global efficacy questions. Mean scores for the erectile function domain of the IIEF were significantly higher for sildenafil (27.23 +/- 0.62; P=0.0001) than for phentolamine (19.35 +/- 0.66). Approximately twice as many men receiving sildenafil had successful attempts at sexual intercourse (88% vs 42%), improved erections (95% vs 51.1%), and improved ability to have sexual intercourse (94.4% vs 46.4%) compared with phentolamine. The most common adverse events included rhinitis, headache, tachycardia, and nausea, with a higher frequency reported in patients receiving phentolamine than sildenafil (41% vs 33%), with the exception of headache, which was reported more frequently in sildenafil users. Overall, sildenafil was more effective and appeared to be better tolerated than phentolamine for the treatment of erectile dysfunction.

Mutations in the CYP21 B gene in a Chilean population with simple virilizing congenital adrenal hyperplasia.

Steroid 21-hydroxylase deficiency (21OHD) compromises about 95% of all cases of congenital adrenal hyperplasia. We have characterized the disease-causing mutations in the steroid 21-hydroxylase genes of 19 Chilean patients (12 females and 7 males) with the simple virilizing (SV) form of 21OHD and compared them with other SV-populations. Using allele-specific polymerase chain reaction, we identified lesions in 28 chromosomes out of 38 tested (73.7%). The most frequent finding was the mutation I173N=12/38 (31.6%) similar as described in Caucasian, Asian and other Hispanic populations, where this mutation represents around 20-40% of the genetic defects in the CYP21B gene. The mutation V282L=4/38 (10.5%) and deletion (Del) or large gene conversion (LGC)=3/38 (7.9%) were also frequently detected. Only 2 alleles carried the mutation I2 splice (5.3%), this frequency is lower than that reported in Caucasian or in Mexican populations. We did not find alleles with the mutations R357W, Cluster E6, P31L and P454S in these patients. The complete genotype was determined in 11/19 patients (58%) and one allele in 6/19 patients (31.6%). In summary, about 30% of the Chilean population with SV 21OHD presented the missense mutation I173N as described in other populations. The frequency of the other lesions showed differences even between populations with similar genetic background.

Hidatidosis esplénica / Echinococcosis of the spleen

Introducción. Presentamos nuestra experiencia en el tratamiento de la enfermedad hidatídica de localización esplénica. Pacientes y métodos. Se presenta una serie de 7 casos intervenidos por hidatidosis de localización esplénica, en dos hospitales, entre los años 1977- 1997. Resultados. La esplenectomía por quiste hidatídico representa el 1,007 por ciento (7/ 768) de todas las indicaciones de esplenectomía y el 2,95 por ciento (7/237) de los casos de hidatidosis intervenidos. Todos los casos fueron tratados mediante esplenectomía reglada. Discusión. Parece observarse un aumento de la incidencia de diagnóstico de la hidatidosis de localización esplénica durante los últimos años en relación con un mayor empleo de técnicas exploratorias no invasivas (AU)

[Usefulness of the measurement of insulin-like growth factor (IGF-I) and IGF-1 binding protein-3 (IGFBP-3) for the diagnosis of growth hormone (GH) deficiency in children]. / Utilidad de la determinación del factor de crecimiento insulino-simil tipo I (IGF-I) y de su proteína ligante tipo 3 (IGFBP-3) en el diagnóstico de la deficiencia de hormona de crecimiento en niños.

BACKGROUND: The diagnosis of GH deficiency (GHD) is based upon the results of GH stimulation tests, which have several drawbacks. AIM: To evaluate the usefulness of IGF-1 and IGFBP-3 for the diagnosis of GHD in prepuberal children. MATERIAL AND METHODS: We measured IGF-I and IGFBP-3 in three group of subjects: I. GHD (n: 24), height < -2SD for age (Z score, average +/- SD: -4.2 +/- 1.2), growth velocity < p10 (3.4 +/- 1.0 cm/year) and peak GH level on two GH stimulation tests < 7 ng/ml (1.2 +/- 0.6 ng/ml); II. Short non-GHD (NGHD, n: 32), height of -2.7 +/- 0.9 SD for age, growth velocity < p 25 (3.9 +/- 1.2 cm/year), and peak GH level on two GH stimulation tests > 7 ng/ml (15.3 +/- 6.9 ng/ml), y III. Normal school children (n: 35) with normal heights (-0.17 +/- 0.12 SD) were studied as controls. RESULTS: IGF-1 and IGFBP-3 were significantly lower in GHD than in NGHD and controls (p < 0.001), and in NGHD than in C (p < 0.001). We defined the normal range of both proteins as +/- 2 SD of the mean of the control group. Using this criteria, IGF-I was low in 21/24 GHD, and in 12/32 NGHD. IGFBP-3 was low in 22/24 GHD, and in 6/32 NGHD. Only 1 GHD patient had both exams in the normal range, suggesting that he is probably NGHD. 4/32 of the NGHD and both exams below normal range, suggesting that they are probably GHD. CONCLUSIONS: IGF-1 and IGFBP-3 are important tools for the diagnosis of GHD.

GH-IGF axis during catch up growth in small for gestational age (SGA) infants.

The hormonal profile in 47 small for gestational age (SGA) term newborns during their first year of life was studied. The newborns had a mean birth weight of 2290 +/- 230 g and a length of 45.5 +/- 2.0 cm, and they were followed up every month. Serum IGF-I, IGF-II, and urinary growth hormone (u-GH) concentrations were measured at 3 days of age and every 3 months during one year. Serum IGFBP-3 levels were measured at 3 and 6 months of age. Catch up growth (CUG) was defined as an increase in length z score greater than 1 SD between birth and 6 months of age. According to this definition, 27 infants (57.4%) experienced CUG. We compared the hormonal profile of the infants who demonstrated evidence of CUG [CUG(+)] with those who did not [CUG(-)]. Serum IGF-II levels were significantly higher in CUG(+) infants compared to CUG(-) infants at 3 months of age. We did not find any differences in serum IGF-I, IGFBP-3 and urinary GH between CUG(+) and CUG(-) infants at any time during the study.

Laparoscopic cholecystectomy port seeding from a colon carcinoma.

A 79-year-old woman had a laparoscopic cholecystectomy for symptomatic gallbladder disease and 1 month later had a colectomy for what was discovered to be an obstructing cancer of the colon. She developed a port site recurrence of the colon malignancy at one of the ports used during the cholecystectomy. The tumor was unrelated to the laparoscopic procedure, and in our review of the literature, only one similar case has been to this date reported.