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. .

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.

[The frequency of pharmacological pain relief in university neonatal intensive care units]. / Freqüência do emprego de analgésicos em unidades de terapia intensiva neonatal universitárias.

OBJECTIVE: To evaluate the use of drugs to relieve procedural pain of newborn infants hospitalized in Neonatal Intensive Care Units (NICU) of university hospitals. METHODS: A prospective cohort study of all newborn infants hospitalized in four NICU during October 2001. The following data were collected: demographic data of patients; clinical morbidity; number of potentially painful procedures and frequency of analgesic administration. Multiple linear regression analysis was performed to study the factors associated with the use of analgesia in this cohort of patients with SPSS 8.0. RESULTS: Ninety-one newborn infants were admitted to the NICU during the study period (1,025 patient-days). Only 25% of the 1,025 patient-days received any systemic analgesia. No specific drug was administered to relieve acute pain during any of the following painful procedures: arterial, venous, capillary and lumbar punctures and tracheal intubation. For chest tube insertion, 100% of newborn infants received specific analgesia. For the insertion of central catheters, 8% of the newborn infants received analgesia. Only nine of the 17 newborn infants that underwent surgical procedures received any dose of analgesics during the postoperative period. Regarding patients who received analgesia, the drug of choice was fentanyl in 93%. The presence of mechanical ventilation increased 6.9 times the chance of the newborn receiving analgesia and the presence of a chest tube increased this chance by 5.0 times. CONCLUSION: It is necessary to train health professionals in order to shorten the lag between scientific knowledge regarding newborn pain and clinical practice.

Freqüência do emprego de analgésicos em unidades de terapia intensiva neonatal universitárias / The frequency of pharmacological pain relief in university neonatal intensive care units

OBJETIVO: Verificar a freqüência com que são empregados analgésicos para o alívio da dor desencadeada por procedimentos invasivos em recém-nascidos internados em UTI universitárias e verificar o perfil de uso de medicamentos para o alívio da dor. MÉTODOS: Coorte prospectiva, avaliada entre 1° e 31 de outubro de 2001, de todos os recém-nascidos internados em quatro UTI. Dados coletados: características gerais das unidades; dados demográficos dos recém-nascidos; morbidade clínica e freqüência do emprego de analgésicos. Realizaram-se a análise estatística descritiva e a regressão linear múltipla por meio do SPSS 8.0, para analisar os fatores associados ao uso de analgésicos nesta coorte. RESULTADOS: No período, foram internados 91 recém-nascidos (1.025 pacientes-dia). Apenas 25 por cento dos 1.025 pacientes-dia receberam alguma dose de analgésico por via sistêmica. Não foi administrada nenhuma medicação específica para o alívio da dor aguda durante os seguintes eventos dolorosos: intubações traqueais, punções arteriais, venosas, capilares e lombares. Na inserção de dreno de tórax, 100 por cento dos recém-nascidos receberam analgesia específica e, para a passagem de cateteres centrais, apenas 8 por cento. De 17 recém-nascidos submetidos a procedimentos cirúrgicos, somente nove receberam analgésicos no pós-operatório. O medicamento mais utilizado foi o fentanil (93 por cento). A presença de ventilação mecânica elevou em 6,9 vezes, e a de dreno de tórax em cinco vezes a chance do recém-nascido receber alguma dose de analgésico. CONCLUSÃO: Há necessidade de melhorar a formação dos profissionais de saúde para diminuir a distância entre os conhecimentos científicos existentes a respeito da dor no recém-nascido e a prática clínica.

Atividade eritrocitária da superóxido dismutase e o uso de oxigênio em prematuros com doença de membranas hialinas / Erythrocyte activity of the superoxide dismutase and oxygen premature infant with hyaline membrane disease

Objetivos: O desenvolvimento da lesão pulmonar no período neonatal é multifatorial e ocorre quando há desequilíbrio entre os níveis de espécies reativas tóxicas de O2 e as defesas antioxidantes. Recém-nascidos prematuros comumente estão sob elevado estresse oxidativo, pois são expostos a altas concentrações de O2, têm baixas defesas antioxidantes e provavelmente não apresentam habilidade em induzir aumento da atividade antioxidante enzimática, diante das situações de hiperóxia. O objetivo deste estudo foi, então, verificar a atividade eritrocitária da superóxido dismutase (SOD) em prematuros de acordo com a presença ou não de DMH na primeira semana de vida. Métodos: 33 prematuros foram recrutados aleatoriamente e acompanhados prospectivamente durante sua primeira semana de vida na Unidade Neonatal. 15 recém-nascidos desenvolveram DMH. A idade gestacional foi de 32±2 semanas e o peso de nascimento foi de 1228,9±371,4 gramas. Avaliou-se a atividade da SOD no eritrócito em amostras sangüíneas colhidas com 24 horas, 48 horas e 7 dias de vida (método da xantina-xantina oxidase). Resultados: Observamos que a atividade eritrocitária da SOD nos prematuros com DMH foi estatisticamente inferior à dos prematuros sem DMH com 48 horas de vida (0,67±0,25U/mg Hb - com DMH x 0,99±0,30U/mg Hb - sem DMH, p=0,008). Conclusões: A atividade eritrocitária da SOD foi menor em prematuros com DMH após 24 horas de vida.