RESUMO
In rats, adrenal medullary synthesis of epinephrine is impaired by ACTH deficiency and is not improved by replacement doses of glucocorticoid. We have evaluated plasma epinephrine and norepinephrine concentrations in 43 children, 8-15 yr old. These children were divided into 5 groups, with 6-10 per group: normals; children with isolated GH deficiency; hypopituitary children deficient in both GH and TSH; hypopituitary children deficient in GH, TSH, and ACTH; and short children without known organic disease. The deficiencies of ACTH and TSH were being treated with replacement doses of cortisol and T4. Plasma catecholamines were measured in the supine position at rest every other hour from 0800-1600 h, and after exercise in the standing position at 1000 h. Plasma norepinephrine levels, both at rest and after exercise, were normal in all four groups of short children. Resting and postexercise plasma epinephrine levels were reduced to 10-20% of normal in the hypocorticotropic hypopituitary patients, and were normal in the other three groups of short children.
Assuntos
Hormônio Adrenocorticotrópico/deficiência , Epinefrina/deficiência , Hipopituitarismo/metabolismo , Tecido Adiposo/metabolismo , Adolescente , Fatores Etários , Metabolismo Basal , Criança , Epinefrina/sangue , Ácidos Graxos não Esterificados/sangue , Feminino , Hormônio do Crescimento/deficiência , Humanos , Masculino , Norepinefrina/sangue , Tireotropina/deficiênciaRESUMO
Subacute necrotizing encephalopathy (SNE) or Leigh's disease is associated with various defects in oxidative phosphorylation (OXPHOS). However, the relationships between these OXPHOS defects and nuclear DNA or mitochondrial DNA (mtDNA) mutations is still unclear. We evaluated three SNE pedigrees (two singleton cases and a pedigree) biochemically for OXPHOS abnormalities and genetically for four mtDNA point mutations. There was a complex I defect in all three pedigrees that was associated with a complex III defect in two individuals. An mtDNA mutation in the ATPase, subunit 6 gene (np 8993) was present in one SNE pedigree. This mutation was maternally inherited, heteroplasmic, produced marked clinical and biochemical heterogeneity between pedigree members, and varied along the maternal lineage at levels ranging from 0% to > 95% of the total mtDNAs. These mtDNA mutations were not present in the other two pedigrees. These observations emphasize the importance of screening for OXPHOS defects and mtDNA mutations in SNE cases.
Assuntos
Adenosina Trifosfatases/genética , Doença de Leigh/genética , Mutação , Fosforilação Oxidativa , Southern Blotting , DNA Mitocondrial/análise , Feminino , Humanos , Lactente , Doença de Leigh/enzimologia , Músculos/enzimologia , Linhagem , Reação em Cadeia da PolimeraseRESUMO
OBJECTIVE: To determine the impact of prenatal diagnosis on the birth prevalence of neural tube defects (NTDs) in Atlanta during 1990 through 1991. METHODS: Live-born and stillborn infants with NTDs who were at least 20 weeks' gestation were ascertained by the Metropolitan Atlanta Congenital Defects Program (MACDP), a population-based birth defects registry. Prenatally diagnosed NTD-affected pregnancies were ascertained from the four perinatal centers and the three genetic laboratories operating in Atlanta during 1990 through 1991. Fetal death certificates were also reviewed for potential cases. RESULTS: During 1990 through 1991, MACDP ascertained 59 NTD cases, for a birth prevalence of 0.77/1000 live births. During this period, an additional 28 NTD-affected pregnancies were detected prenatally and terminated before 20 weeks' gestation. The adjusted NTD rate during 1990 through 1991, which includes prenatally diagnosed cases, was 1.13/1000 live births. CONCLUSIONS: Prenatal diagnosis is making a substantial impact on the birth prevalence of NTDs in Atlanta. However, since NTD rates in Atlanta were 2 to 2.5 per 1000 live births in 1970, prenatal diagnosis and termination of pregnancy does not completely account for the declining rate of NTDs.
Assuntos
Defeitos do Tubo Neural/diagnóstico , Defeitos do Tubo Neural/epidemiologia , Diagnóstico Pré-Natal , Aborto Induzido , Feminino , Georgia , Humanos , Vigilância da População , Gravidez , PrevalênciaRESUMO
A liveborn girl with 46,XX/47,XX+4 mosaicism is reported for the first time. The diagnosis of true mosaicism was established initially in the assay of cultured amniotic fluid cells, although fetal blood obtained by percutaneous umbilical blood sampling showed a 46,XX chromosome constitution. The liveborn infant had manifestations previously reported in dup(4p) and dup(4q) syndromes. Cells in cord and arterial blood samples also were 46,XX, but cultures of placenta and bilateral forearm skin biopsies showed 46,XX/47,XX,+4 mosaicism. This case illustrates the disadvantage of chromosome analysis from blood alone when tissue-specific mosaicism is present.
Assuntos
Cromossomos Humanos Par 4 , Mosaicismo/genética , Trissomia , Amniocentese , Feminino , Humanos , Lactente , Cariotipagem , GravidezRESUMO
We ascertained +i(12p) mosaicism during third trimester in a case of polyhydramnios and diaphragmatic hernia. Primary cultures of amniocytes had colonies with +i(12p), colonies without +i(12p), and mixed colonies with 46/47,+i(12p). The likely explanation was instability and loss of i(12p) during somatic divisions of amniocytes. Fetal blood in third trimester retained +i(12p) in 13% of cells. A review of mosaicism in published cases indicates that factors influencing the presence of +i(12p) include tissue type and in vitro and in vivo age. In blood, amniocyte, and probably bone marrow cultures, +i(12p) is less stable than in fibroblast-like cultures derived from skin and other tissues. Young cultures at early passage are more likely to have +i(12p) than old cultures. Cultures from young (especially fetal) donors are more likely to retain +i(12p) than cultures from adult donors. These rules will be important in determining appropriate tissues for diagnosis and interpretation of mosaicism in this disorder.
Assuntos
Aberrações Cromossômicas/genética , Cromossomos Humanos Par 12 , Linfócitos/patologia , Mosaicismo , Ultrassonografia Pré-Natal , Adulto , Líquido Amniótico , Células Cultivadas , Aberrações Cromossômicas/diagnóstico por imagem , Transtornos Cromossômicos , Feminino , Humanos , Linfócitos/metabolismo , Gravidez , Terceiro Trimestre da Gravidez , SíndromeRESUMO
A fetus with an open, noncystic myelomeningocele was detected at the 22nd week of gestation in a woman monitored for advanced maternal age. The lesion could not be demonstrated on amniography. In 13% of published reports amniography failed to detect significant spina bifida lesions. This false-negative rate seems related to the noncystic nature of some neural tube defects at midgestation.
Assuntos
Diagnóstico Pré-Natal , Espinha Bífida Oculta/diagnóstico , Líquido Amniótico/metabolismo , Diagnóstico Diferencial , Reações Falso-Negativas , Feminino , Fetoscopia , Humanos , Gravidez , alfa-Fetoproteínas/metabolismoRESUMO
Very little data are available from population-based studies on congenital hypothyroidism (CH) epidemiology and patterns of associated birth defects. By linking data from two population-based registries, we describe the epidemiology of CH and associated defects in Atlanta from 1979-1992. Cases included all infants with CH born from 1979-1992 to mothers residing in the metropolitan Atlanta area at the time of birth. We ascertained CH cases by reviewing newborn screening records and records of the Metropolitan Atlanta Congenital Defects Program (MACDP), a population-based registry of all serious birth defects diagnosed during a child's first year of life. We linked CH cases with MACDP records to ascertain the presence of serious birth defects among infants with CH. Of 97 infants identified with CH through newborn screening and/or MACDP (1:5,000 live births), 87 had primary CH and 10 had secondary. The rate of primary CH was higher among non-hispanic whites than among blacks (1:4,400 vs. 1:10,000) and among females compared with males (1:4,000 vs. 1:7,700). Among infants with primary CH, 77 had isolated CH, 3 had Down syndrome, and 7 had unrelated major structural defects. Based on Atlanta population rates of Down syndrome and major structural anomalies, we infer i) infants with Down syndrome have a 35-fold increased risk for primary CH compared with infants in the general population (P < .0001); ii) infants with primary CH have a 2.2-fold increased risk for major structural anomalies (P < .05). Because this is the first population study of CH in the United States in which data from two population-based registries were linked, the epidemiologic patterns and associated defects are more representative than those found in studies based on newborn screening records only.
Assuntos
Hipotireoidismo Congênito , Adulto , Anormalidades Congênitas/epidemiologia , Feminino , Georgia/epidemiologia , Humanos , Hipotireoidismo/complicações , Hipotireoidismo/epidemiologia , Recém-Nascido , Masculino , Idade Materna , Triagem Neonatal , PrevalênciaRESUMO
Chromosome 15 (15q11-q13) abnormalities cause two distinct conditions, Angelman syndrome (AS) and Prader-Willi syndrome (PWS). We present the first case of a child with a balanced 15;15 translocation and AS in whom molecular studies were crucial in confirming a diagnosis. DNA polymorphisms demonstrated paternal uniparental disomy for chromosome 15, consistent with the diagnosis of AS. The molecular studies also showed the patient to be homozygous at all loci for which the father was heterozygous, suggesting that the structural rearrangement was an isochromosome 15q and not a Robertsonian translocation.
Assuntos
Síndrome de Angelman/genética , Cromossomos Humanos Par 15 , Translocação Genética , Síndrome de Angelman/diagnóstico , Pré-Escolar , DNA/genética , Marcadores Genéticos , Homozigoto , Humanos , Masculino , FenótipoRESUMO
We report on a live-born infant with mosaicism of tetraploidy and trisomy 8 who had craniofacial abnormalities, cardiac and genitourinary defects, agenesis of the corpus callosum, and anomalies of limbs. The infant died at age 14 weeks. Molecular studies were done on peripheral blood lymphocytes and cultured amniocytes to determine the origin of the cytogenetic abnormalities. On the basis of the results, we describe a possible mechanism to explain these abnormalities. To our knowledge, this infant represents the first reported case of mosaic trisomy 8 with a tetraploid cell line.
Assuntos
Anormalidades Múltiplas/genética , Cromossomos Humanos Par 8 , Mosaicismo , Poliploidia , Adulto , Face/anormalidades , Feminino , Humanos , Lactente , Masculino , TrissomiaRESUMO
Spondyloepiphyseal dysplasia tarda is an inherited skeletal dysplasia involving the spine and epiphyses of long bones with onset in childhood, giving rise to disproportionate short stature and degenerative spine and hip disease. Associated ocular disease is not commonly recognized. We report a patient with spondyloepiphyseal dysplasia tarda and a unique pattern of corneal opacities. Bilateral, irregularly shaped, nodular, deeply posterior opacities confined to the peripheral cornea were noted in this patient. A central stromal granularity was also seen. Minimal visual loss was associated with these findings. An X-linked inheritance pattern is presumed but could not be confirmed.
Assuntos
Opacidade da Córnea/etiologia , Osteocondrodisplasias/complicações , Idoso , Opacidade da Córnea/patologia , Substância Própria/patologia , Humanos , Masculino , Osteocondrodisplasias/diagnóstico por imagem , Radiografia , Coluna Vertebral/diagnóstico por imagem , Acuidade VisualRESUMO
Children with phenylketonuria (PKU) are treated with semi-synthetic diets restricted in phenylalanine. Low or phenylalanine-free formulae provide the majority of protein and energy in the diet while phenylalanine requirements are met by low-protein natural foods. Because of the restriction of natural protein sources in this diet, the study assessed the zinc and copper nutriture of treated children with PKU and correlated linear growth with zinc status. The plasma zinc of the PKU population was 66.6 +/- 3.3 micrograms/dl (mean +/- SEM). The hair zinc was 70.2 +/- 11.5 micrograms/g (mean +/- SEM). The mean plasma and hair zinc of the PKU population were significantly different (p less than 0.05) when compared to normal values of 84.2 +/- 2.9 micrograms/dl and 130.7 +/- 8.3 micrograms/g (mean +/- SEM), respectively. The dietary zinc intake of 10 PKU patients was 8.56 +/- 2.68 mg/day (mean +/- SD). No significant differences (p less than 0.123) were found when the mean zinc intake was compared with recommended dietary allowances for age of 10 mg/day. No significant correlations were found when plasma and hair zinc were plotted with height percentiles. Plasma copper of the PKU subjects (87.6 +/- 6.6 micrograms/dl, mean +/- SEM) was significantly less than that of normal young children (121.5 +/- 3.1 micrograms/dl, mean +/- SEM) despite a copper intake a 1.45 +/- 0.35 mg/day (mean +/- SD).
Assuntos
Cobre/metabolismo , Alimentos Formulados/normas , Fenilcetonúrias/metabolismo , Zinco/metabolismo , Criança , Pré-Escolar , Cobre/administração & dosagem , Feminino , Cabelo/metabolismo , Humanos , Lactente , Masculino , Necessidades Nutricionais , Fenilalanina/administração & dosagem , Fenilcetonúrias/dietoterapia , Zinco/administração & dosagemRESUMO
OBJECTIVES: The main objectives were to describe the epidemiology of primary congenital hypothyroidism (CH) in Georgia during the past 20 years and specifically to determine whether there was a significant increase in CH prevalence proximal to the Savannah River Site (SRS), a nuclear plant. METHODS: Data were derived from the Georgia Newborn Screening Program. Frequencies were determined for race, sex, birth weight and birth month. Seasonality effects were investigated and the prevalence was determined and mapped by health district. RESULTS: The majority of the CH cases were female, white and of average birth weight. The sex ratio varied by race/ethnicity. There was not a statistically significant increase in the prevalence in the eastern districts that were in close proximity to the SRS. CONCLUSIONS: Although there were differences in the prevalence between health districts, we found no increased prevalence of CH in those health districts proximal to the SRS.
Assuntos
Hipotireoidismo Congênito , Exposição Ambiental , Feminino , Georgia/epidemiologia , Humanos , Hipotireoidismo/epidemiologia , Recém-Nascido , Masculino , Centrais Elétricas , Prevalência , Poluentes RadioativosRESUMO
The effect of protein distribution on nitrogen balance and the plasma aminogram was studied in a 34-month-old male child with propionic acidemia. Protein provided 4.8% of energy of which high biological value protein was given either as a bolus or evenly distributed in three meals per day. Analysis of nitrogen balance including estimated sweat nitrogen losses revealed no major difference between the two diets. No marked differences in the fasting plasma concentrations of essential amino acids were noted with protein distribution. A generalized increase in concentration of all nonessential amino acids except taurine and ornithine was noted when protein was evenly distributed throughout the day. The ratio of nonessential to essential amino acids was higher after even protein distribution than when protein was given as a bolus. The data suggests that a low protein diet (206 mg nitrogen/kg/day) with adequate energy intake used in managing this child with propionic acidemia provided adequate amounts of total nitrogen and essential amino acids for normal growth regardless of protein distribution.
Assuntos
Erros Inatos do Metabolismo dos Aminoácidos/dietoterapia , Aminoácidos/sangue , Proteínas Alimentares/administração & dosagem , Nitrogênio/metabolismo , Propionatos/sangue , Erros Inatos do Metabolismo dos Aminoácidos/sangue , Erros Inatos do Metabolismo dos Aminoácidos/metabolismo , Pré-Escolar , Humanos , MasculinoRESUMO
In a population-based screen of 617,913 infants, primary congenital hypothyroidism (CH) was confirmed in 100 children. 32 of the 100 infants with CH had an additional defect or complication. In the group with CH the rates of congenital heart disease, non-cardiac malformations, respiratory distress syndrome, and death were higher than in the general population of the same age. Black infants were less likely than whites to have CH, but were at twice the risk of additional impairment. Infants with CH who had an additional complication were screened (12.7 vs 4.8 days) and treated (32.4 vs 19.7 days) significantly later than those infants with isolated CH. Congenital malformations and neonatal complications should not be reasons for deferring screening for CH.
Assuntos
Hipotireoidismo Congênito , Anormalidades Congênitas/diagnóstico , Anormalidades Congênitas/terapia , Humanos , Hipotireoidismo/complicações , Hipotireoidismo/terapia , Lactente , Recém-Nascido , Risco , Tireotropina/sangue , Tiroxina/sangue , Fatores de TempoRESUMO
To determine the neurobehavioral consequences of alcohol use during different periods in gestation, we compared the behavior of 103 neonates born to women who: drank a mean of 12 ounces of absolute alcohol per week throughout pregnancy; drank a mean of 14 ounces of absolute alcohol and were otherwise comparable to the first group but stopped drinking in the second trimester, and never drank at all during pregnancy. Low socioeconomic status, predominantly black women applying for prenatal care at a large inner city hospital were recruited in the second trimester of pregnancy, and those reporting alcohol use were advised to stop drinking. Neurobehavioral evaluation with the Brazelton Neonatal Behavioral Assessment Scale was conducted at 3 days postnatal age. As a group, infants exposed to alcohol at any time during gestation were found to have significant alterations in reflexive behavior, less mature motor behavior, and an increased activity level in comparison to unexposed infants. Infants whose mothers stopped drinking in the second trimester were superior to those whose mothers continued to drink throughout pregnancy in observed state control, need for stimulation, motor tone, tremulousness, and asymmetries in reflexive behavior. These results indicate that characteristic damage does occur to the central nervous system of a fetus exposed to alcohol throughout pregnancy, and that exposure during only the early part of pregnancy also seems to have measurable effects. Multivariate analysis indicated that neither amount of alcohol used per week nor cigarette use contributed significantly to these effects on infant behavior.
Assuntos
Alcoolismo , Transtornos do Espectro Alcoólico Fetal/diagnóstico , Complicações na Gravidez , Nível de Alerta , Feminino , Humanos , Recém-Nascido , Relações Interpessoais , Abuso de Maconha , Testes Neuropsicológicos , Gravidez , Reflexo Anormal , FumarRESUMO
Although neonatal withdrawal syndrome is often noted in infants of narcotics addicts, ethanol withdrawal has been reported only among neonates with fetal alcohol syndrome. To examine the possibility that ethanol withdrawal occurs more widely and to identify its characteristics, the behavior of eight neonates born to women who drank a mean of 21 ounces of absolute alcohol per week during gestation was compared with that of two contrast groups: 15 infants whose mothers drank an equivalent amount but stopped in the second trimester, and 29 infants whose mothers never drank. None of the 52 infants had fetal alcohol syndrome, and all were in good health. Neurobehavioral evaluation 3 days postnatally compared the groups for the occurrence of characteristic signs of withdrawal from central nervous system depressants. Whereas there was no difference in the frequency of withdrawal symptoms among infants of mothers who never drank (mean 1.4) or of mothers who stopped drinking (mean 1.8), infants of mothers who continued to drink (mean 4.7) had significantly more tremors, hypertonia, restlessness, excessive mouthing movements, unconsolable crying, and reflex abnormalities. By interfering with state control and interactive behaviors, withdrawal could affect mother-infant bonding as well as the conditions that foster cognitive and social development.
Assuntos
Etanol/efeitos adversos , Doenças do Recém-Nascido/induzido quimicamente , Recém-Nascido , Síndrome de Abstinência a Substâncias/etiologia , Consumo de Bebidas Alcoólicas , Cannabis , Feminino , Transtornos do Espectro Alcoólico Fetal/etiologia , Humanos , Masculino , GravidezRESUMO
Recent research on the effects of alcohol use during pregnancy indicate that discontinuing alcohol use mid-pregnancy can prevent or minimize many of the adverse consequences usually observed in the children of women who consume alcohol throughout pregnancy. Few studies have examined the contributions of maternal dose level independent of the duration of drinking during pregnancy. In this study the effects of prenatal dose (volume of maternal alcohol use per week during pregnancy) and duration (exposure throughout pregnancy vs. exposure in the first and second trimesters only) on newborn physical and behavioral development were examined. Dependent measures were cluster scores on the Brazelton Neonatal Behavioral Assessment Scale (BNBAS) at three days, infant birthweight, length, and head circumference. Subjects were infants of obstetric patients at Grady Memorial Hospital in Atlanta who were participating in a study on the effects of alcohol use during pregnancy on infant outcome (n = 149). Subjects were primarily black and of low socioeconomic status. Infants of women who continued to drink throughout pregnancy differed from those of women who did not drink during pregnancy on orientation, (the ability to attend to environmental stimuli), p less than 0.05, autonomic regulation, p less than 0.0002, birthweight, p less than 0.04, length, p less than 0.01, and head circumference, p less than 0.01. Both prenatal alcohol dose, p less than 0.03, and the duration of alcohol exposure, p less than 0.03, independently affected autonomic regulation. A significant interaction was found for birthweight, p less than 0.02, with independent main effects for both dose and duration of exposure, p less than 0.01.(ABSTRACT TRUNCATED AT 250 WORDS)