Insulin-like growth factor 1 gene (CA)n repeats and a variable number of tandem repeats of the insulin gene in Brazilian children born small for gestational age.

OBJECTIVE: To investigate the influence of (CA)n repeats in the insulin-like growth factor 1 gene and a variable number of tandem repeats of the insulin gene on birth size in children who are small or adequate-sized for gestational age and to correlate these polymorphisms with serum insulin-like growth factor 1 levels and insulin sensitivity in children who are small for gestational age, with and without catch-up growth. PATIENTS AND METHODS: We evaluated 439 infants: 297 that were adequate-sized for gestational age and 142 that were small for gestational age (66 with and 76 without catch-up). The number of (CA)n repeat in the insulin-like growth factor 1 gene and a variable number of tandem repeats in the insulin gene were analyzed using GENESCAN software and polymerase chain reaction followed by enzymatic digestion, respectively. Clinical and laboratory data were obtained from all patients. RESULTS: The height, body mass index, paternal height, target height and insulin-like growth factor 1 serum levels were higher in children who were small for gestational age with catch-up. There was no difference in the allelic and genotypic distributions of both polymorphisms between the adequate-sized and small infants or among small infants with and without catch-up. Similarly, the polymorphisms were not associated with clinical or laboratory variables. CONCLUSION: Polymorphisms of the (CA)n repeats of the insulin-like growth factor 1 gene and a variable number of tandem repeats of the insulin gene, separately or in combination, did not influence pre- or postnatal growth, insulin-like growth factor 1 serum levels or insulin resistance.

Insulin-like growth factor 1 gene (CA)n repeats and a variable number of tandem repeats of the insulin gene in Brazilian children born small for gestational age

OBJECTIVE: To investigate the influence of (CA)n repeats in the insulin-like growth factor 1 gene and a variable number of tandem repeats of the insulin gene on birth size in children who are small or adequate-sized for gestational age and to correlate these polymorphisms with serum insulin-like growth factor 1 levels and insulin sensitivity in children who are small for gestational age, with and without catch-up growth. PATIENTS AND METHODS: We evaluated 439 infants: 297 that were adequate-sized for gestational age and 142 that were small for gestational age (66 with and 76 without catch-up). The number of (CA)n repeat in the insulin-like growth factor 1 gene and a variable number of tandem repeats in the insulin gene were analyzed using GENESCAN software and polymerase chain reaction followed by enzymatic digestion, respectively. Clinical and laboratory data were obtained from all patients. RESULTS: The height, body mass index, paternal height, target height and insulin-like growth factor 1 serum levels were higher in children who were small for gestational age with catch-up. There was no difference in the allelic and genotypic distributions of both polymorphisms between the adequate-sized and small infants or among small infants with and without catch-up. Similarly, the polymorphisms were not associated with clinical or laboratory variables. CONCLUSION: Polymorphisms of the (CA)n repeats of the insulin-like growth factor 1 gene and a variable number of tandem repeats of the insulin gene, separately or in combination, did not influence pre- or postnatal growth, insulin-like growth factor 1 serum levels or insulin resistance. .

Quality of life and predictive factors in patients undergoing assisted reproduction techniques.

OBJECTIVES: To evaluate the quality of life (QOL) of a cohort of women undergoing assisted reproduction techniques (ART), to compare two QOL questionnaires [Short Form 36 (SF36) and FertiQoL], and to identify the predictive factors related to QOL. STUDY DESIGN: Women who received infertility medication from a hospital pharmacist during a one-year period were included in this study. Two standardized validated questionnaires - FertiQoL and SF36 - were used. Multivariate analyses were used to assess predictive factors for QOL. RESULTS: Sixty-one women participated in this study. Median QOL scores ranged from 58 to 100. Comparisons between the two questionnaires revealed lower QOL scores when using FertiQoL. Most correlations between the questionnaires were positive, and significant for the majority of SF36 mental dimensions. The major predictors of QOL were: accompanied to the pharmacist's visit by partner, nationality, ART (in vitro fertilization or artificial insemination), employment status (employed or unemployed), tobacco consumption, age, number of cycles, infertility factor and treatment results (pregnancy, no pregnancy or treatment cancellation). CONCLUSIONS: FertiQoL examines dimensions such as partner and social relationships. As such, it is recommended that FertiQoL should be used together with a short version of SF36 to investigate QOL among patients undergoing ART.

Prospective study of urinary tract infection surveillance after kidney transplantation.

BACKGROUND: Urinary tract infection (UTI) remains one of the main complications after kidney transplantation and it has serious consequences. METHODS: Fifty-two patients with kidney transplantation were evaluated for UTI at 3-145 days (mean 40.0 days) after surgery.. Forty-two received a graft from a live donor and 10 from a deceased donor. There were 22 female and 30 male patients, aged 11-47 years. Microscopic examinations, leukocyte esterase stick, and urinary culture were performed every third day and weekly after hospitalization. A positive culture was consider when patients presented bacterial counts up to 105 counts. RESULTS: UTI developed in 19/52 (37%) patients at 3-75 days (mean 19.5 days after transplantation. Recurrent infection was observed in 7/52 (13.4%) patients at days 17-65. UTI was more frequent in patients who received deceased grafts compared with live grafts (7/10, 70% vs. 12/42, 28%; p < 0.007). Female patients were more susceptible than male (11/22, 50% vs. 8/22, 36.35%; p < 0.042). Five-year survival rate was 94.5% (49/52 patients). Kidney Graft exit update is 47/52 (90.2%), and there were no significant differences between graft rejection and UTI (p = 0.2518). Isolated bacteria were Escherichia coli (31.5%), Candida albicans (21.0%) and Enterococcus spp. (10.5%), followed by Pseudomonas aeruginosa, Klebsiella pneumoniae, Morganella morganii, Enterobacter cloacae and Micrococcus spp. Secondary infections were produced by (7/19, 36.8%). Enterococcus spp. (57%), E. coli (28%) and Micrococcus spp. (14.2%). Antibiotic resistance was 22% for ciprofloxacin and 33% for ampicillin. Therapeutic alternatives were aztreonam, trimethoprim-sulfamethoxazole, netilmicin and fosfomycin. CONCLUSIONS: Surveillance of UTI for the first 3 months is a good option for improving quality of life of kidney transplantation patients and the exit of graft function especially for female patients and those receiving deceased grafts. Antibiograms provided a good therapeutic alternative to patients who presented with UTIs after receiving a kidney allograft.

Polymorphisms identified in the upstream core polyadenylation signal of IGF1 gene exon 6 do not cause pre- and postnatal growth impairment.

BACKGROUND: Few children born small for gestational age (SGA) with IGF1 mutations have been reported. One of these patients presented a mutation at 3' untranslated region (UTR) at exon 6, probably affecting the polyadenylation process. OBJECTIVE: The objective of the study was to sequence the IGF1 gene of children born SGA. PATIENTS AND METHODS: IGF1 (exons 1-6) was directly sequenced in 53 SGA children without catch-up growth. Allelic variant frequency of the identified IGF1 polymorphisms was assessed in a total of 145 SGA children and in 180 controls born with adequate weight and length and adult height sd score greater than -2. RESULTS: No mutations were identified in the IGF1 coding regions in SGA children. In contrast, six allelic variants were identified in the upstream core polyadenylation signal located in IGF1 3' UTR at exon 6. The frequency of the different allelic variants was similar in SGA children and controls. It is noteworthy that the same allelic variant, previously described as causing severe IGF1 deficiency, was also observed in homozygous (n = 4) and heterozygous state (n = 6) in normal height controls, corresponding to 4% of studied alleles. The three most frequently identified allelic variants of IGF1 3' UTR showed no effect on height sd score of adult controls as well as on birth characteristics in SGA children. CONCLUSION: The polymorphisms identified in the upstream core polyadenylation signal at IGF1 exon 6 do not cause IGF1 deficiency as well as pre- and postnatal growth impairment, in contrast to previously reported data.

Exploración de la función coclear en niños mediante emisiones otoacústicas / Examination of cochlear function in children with otoacoustic emissions

Introducción. Este estudio fue realizado con el fin de conocer la prevalencia de las emisiones otoacústicas espontáneas y provocadas por sonidos transitorios en la población pediátrica de alto riesgo. Material y métodos. Se examinaron 44 niños con edad promedio de 3.7 años, en quienes se comprobó que tenían audición normal y que estaban libres de infecciones y disfunciones del oído medio. Resultados. Se encontró una prevalencia de 56.8 por ciento de emisiones otoacústicas espontáneas y un 73.8 por ciento de emisiones otoacústicas provocadas. Estos resultados son comparables con los encontrados por otros autores en poblaciones similares. Conclusiones. Este método diagnóstico, además de ser un procedimiento rápido comparado con los potenciales provocados auditivos de tallo cerebral y la electrococleografía, nos informa sobre la función coclear con el fin de obtener una detección temprana de alteraciones auditivas, aún las que no son permanentes, como sucede en los cambios temporales que resultan de la ototoxicidad. Además separa las lesiones colcleares de las neurológicas, o madurativas, de la vía auditiva por ser una señal preneural