RESUMO
Foram avaliados 21 pacientes braquicefálicos, com idade inferior a 10 anos, provenientes da Disciplina de Neurocirurgia da Universidade Federal de São Paulo Escola Paulista de Medicina (UNIFESP-EPM), no período de 1994 a 1998, e submetido a avaliação pré-operatória com tomografia computadorizada helicoidal de crânio reconstrução tridimensional (TC3D), realizadas no Laboratório Fleury. A idade d pacientes foi considerada no momento do exame radiológico. Treze pacientes eram d sexo feminino, e oito do masculino. O paciente mais jovem tinha 14 dias de vida e mais velho dez anos. Doze pacientes eram portadores da síndrome de Crouzon, cinco d síndrome de Apert, um apresentava a síndrome de Jackson-Weiss, e três era braquicefalias isoladas. A base do crânio destes pacientes foi comparada com um grupo controle, estudado com TC3D, e provenientes do museu de Craniologia da Disciplina de Anatomia da UNIFESP-EPM. Nesses 63 crânios, foram estudadas sete distâncias e seis ângulos. Para compararmos as diferentes medidas nos dois grupos, usamos o teste de Mann-Whitney, e para compararmos as diferenças dentro do mesmo grupo, nas diferentes faixas etárias, usamos o teste de Kruskal-Wallis, complementado quando necessário, pelo teste de comparações múltiplas. Pudemos verificar que nos pacientes com braquicefalia, a distância interorbitária é muito grande ao nascimento, sugerindo um quadro de hipertelorismo. Com o passar da idade esta distância progressivamente se estabiliza igualando-se ao grupo normal. A distância násio-sela aumentou nos dois grupos, de maneira mais acentuada no grupo normal. O crescimento da fossa anterior do crânio nos portadores de braquicefalia, verificado através das distâncias sela-frontal e esfenofrontal, não demonstrou um crescimento significativo, determinando uma fossa anterior curta. A distância bipterional foi significantemente maior no grupo de braquicéfalos, desde o nascimento, demonstrando um fator compensatório ainda intra-útero. Os resultados das medidas das distâncias pteriorbitária direita e esquerda também foram significantes, demonstrando que nos portadores desta malformação, os ptérios estão anteriorizados. O inverso acontece com a distância ptérigo-básio, também diminuída no grupo afetado, demonstrando uma posteriorização desta estrutura. Com estes resultados pudemos concluir que a asa do esfenóide aderida aos processos pterigóides, atuam como duas lavancas, uma de cada lado, modulando o crescimento do ...(au)
Assuntos
Hipotireoidismo , Biologia Molecular , Proteínas de Ligação a Tiroxina/deficiênciaRESUMO
We examined the results of the Northwest Regional Screening Program from May 1975 to June 1991 to determine the prevalence of inherited thyroxine-binding globulin (TBG) deficiency and its effect on thyroid hormone concentrations in infants. Serum thyroxine (T4), triiodothyronine resin uptake (T3RU), and thyrotropin values were requested of physicians caring for all infants with a single filter paper T4 level < 38.6 nmol/L (3 micrograms/dl) or a T4 level < 3rd percentile on two filter paper tests (at birth and 2 to 6 weeks of age). From 1,367,724 infants screened in five states, TBG deficiency, an X-linked disorder, was identified in 317 infants (285 boys). For the entire screening program the calculated frequency of TBG deficiency was 1:4315 infants (1:2400 for boys). In Oregon, where 95% of infants have two screening tests performed, the calculated frequency was somewhat higher (1:3080 infants; 1712 boys) and is probably more accurate. The mean serum T4 concentration for TBG-deficient boys was 41.9 nmol/L (3.26 micrograms/dl); 31% had values < 25.7 nmol/L (2.0 micrograms/dl). The mean serum T4 concentration for TBG-deficient girls was 60.2 nmol/L (4.68 micrograms/dl), with none < 2.0 micrograms/dl. The mean T3RU value was 0.472 in TBG-deficient boys, and 0.412 in TBG-deficient girls; the T3RU value was > 0.55 in 24% of TBG-deficient boys but was > 0.55 in only one girl. Free serum T4 levels were normal in all 56 TBG-deficient infants studied, and TBG levels were low in all 20 infants studied. Inherited TBG deficiency is common in boys in the Northwest, with a frequency of 1:1700 and a male/female ratio of 8.9:1. Boys with TBG deficiency have mild, moderate, or severe alterations in total T4 and T3RU values, but severe deficiency is rare in girls.
Assuntos
Triagem Neonatal , Proteínas de Ligação a Tiroxina/deficiência , Feminino , Humanos , Lactente , Recém-Nascido , Masculino , Noroeste dos Estados Unidos/epidemiologia , Oregon/epidemiologia , Prevalência , Fatores Sexuais , Tireotropina/sangue , Tiroxina/sangue , Proteínas de Ligação a Tiroxina/análise , Tri-Iodotironina/sangueRESUMO
During 3 years 1632 newborns from Gorgas Army hospital had their cord blood screened for congenital hypothyroidism by determining serum thyroxine levels (T4). Fifty-five had serum levels below 7 mcg/dl and 80% of them went into a confirmatory evaluation for hypothyroidism. Three of those (1.8/1000 live birth) had a familiar deficiency of thyroid binding globulin (TBG). All of them were male newborns born at 38 weeks of gestation. The average T4 from the umbilical cord was 2.4 +/- 1.3 mcg/dl. This value was significantly lower than the values from those with an initial T4 below 7 mcg/dl who did not have TBG deficiency. The prevalence of TBG deficiency in this study was about 10 times higher than the prevalence reported by other authors for both the general population and the male population.
Assuntos
Proteínas de Ligação a Tiroxina/deficiência , Feminino , Humanos , Hipotireoidismo/sangue , Hipotireoidismo/epidemiologia , Hipotireoidismo/etiologia , Recém-Nascido , Masculino , Triagem Neonatal , Projetos Piloto , Prevalência , Tiroxina/sangueAssuntos
Anormalidades Múltiplas/sangue , Hérnia Umbilical/complicações , Macroglossia/complicações , Proteínas de Ligação a Tiroxina/deficiência , Anormalidades Múltiplas/complicações , Anormalidades Múltiplas/diagnóstico , Diagnóstico Diferencial , Humanos , Hipotireoidismo/diagnóstico , Lactente , Masculino , SíndromeRESUMO
Pilot programs for screening of newborn infants for congenital hypothyroidism began in North America in 1972. To date, the five oldest programs (Quebec, Pittsburgh, Toronto, Oregon Regional, and New England Regional) have screened 1,046,362 infants. A total of 277 infants with congenital hypothyroidism have been detected and seven have been missed, resulting in a total of 284 affected infants in the screened population and an overall incidence of one in 3,684 live births. Of the affected infants, 246 were determined to have primary hypothyroidism, an incidence of one in 4,254 births. Ten infants with secondary-tertiary hypothyroidism were detected in Quebec, Oregon, and Toronto, an incidence of one in 68,200 births. Of all the infants with primary hypothyroidism who were adequately studied, 63% were determined to have aplastic or hypoplastic glands, 14% normal or enlarged glands, and 23% ectopic thyroid tissue. The estimated minimum incidence of infants with TBG deficiency is one in 8,913 births. Only 8 of the 277 detected infants were suspected clinically to have congenital hypothyroidism prior to the time of confirmation of the diagnosis at 4 to 8 weeks of age. The cost of screening varied from $0.70 to $1.60 per infant, depending on which costs were included in the estimate. Preliminary evidence from Quebec suggests that infants treated in the program have normal developmental testing scores at 18 months of age.