RESUMEN
Pregnancy in ATP women is not unusual. The problem of this association concerns the possibility of disease transmission to the fetus due to the crossing of maternal antiplatelet antibodies through the placenta. Maternal risk factors predictive of neonatal thrombocytopenia, can be identified as follows: severe thrombocytopenia, previous splenectomy, high titre of PA-IgG and/or SPB-IgG. In 63 pregnancies in ATP patients, we have evaluated whether the above maternal risk factors, considered in the third trimester, can provide useful criteria for the prediction of neonatal thrombocytopenia. In the third trimester, the distribution of maternal risk factors was as follows: 0 in 7 cases, 1 in 27 cases, 2 in 15 cases, 3 in 12 cases, 4 in 2 cases. From a statistical evaluation, the neonatal platelet values and the maternal risk factors seem inversely correlated (r -0.437; p = 0.0005). In particular, neonatal and maternal platelet count correlated positively (r = 0.249; p = 0.025); moreover, neonatal platelet count correlated negatively with Splenectomy (r = -0.209; p = 0.05), PA-IgG (r = -0.401; p < 0.0005) and SPB-IgG (r = -0.338; p < 0.005). We tried to apply a multiple regression model for all the above parameters which appears statistically significant (p = 0.001); the variability was about 30%. This regression model could be validated if applied to a larger number of cases, and it could represent an alternative to the invasive methods used for the diagnosis of neonatal thrombocytopenia.
Asunto(s)
Complicaciones Hematológicas del Embarazo , Púrpura Trombocitopénica Idiopática/complicaciones , Trombocitopenia/congénito , Adolescente , Adulto , Femenino , Humanos , Recién Nacido , Embarazo , Factores de RiesgoRESUMEN
We have followed up 63 pregnancies in women with autoimmune thrombocytopenic purpura (ATP). Of these, 15 were previously splenectomized. The characteristics of the sample can be summed up as follows: average age 27 years (17-41); platelets at the beginning of pregnancy, mean 129.5 x 10(9)/l (range 16-488); platelets at delivery, mean 133 x 10(9)/l (range 8-477); PA-IgG at delivery, mean 320 ng IgG/10(7) platelets (range 10-1000); SPB-IgG at delivery, mean 262 ng IgG/10(7) platelets (range 10-1000). There were 30 spontaneous deliveries and 33 cesarean sections. Forty-two newborns had a platelet count within the normal range while nine had a platelet count less than or equal to 150 x 10(9)/l, while six had less than or equal to 100 x 10(9)/l and a further six less than or equal to 50 x 10(9)/l. The aim of this study is the evaluation of maternal risk and of possible feto-neonatal thrombocytopenia at birth. In this regard, the following parameters were considered: previous maternal splenectomy; the platelet count at the beginning of pregnancy; the platelet count and the titres of PA-IgG and SPB-IgG at delivery. Preliminary statistical evaluation of these parameters enabled us to identify a risk score. From this it was possible to obtain an optimum management of the final stage of pregnancy regarding the therapeutic approach and the timing of delivery.
Asunto(s)
Enfermedades Fetales/sangre , Complicaciones Hematológicas del Embarazo/sangre , Púrpura Trombocitopénica Idiopática/sangre , Cesárea , Femenino , Hemorragia/sangre , Hemorragia/etiología , Humanos , Recién Nacido , Recuento de Plaquetas , Embarazo , Complicaciones Hematológicas del Embarazo/inmunología , Púrpura Trombocitopénica Idiopática/complicaciones , Púrpura Trombocitopénica Idiopática/inmunología , Factores de Riesgo , Bazo/inmunología , EsplenectomíaRESUMEN
A series of genetic, developmental and environmental variables have been analyzed in a prospective sample of full-term newborn babies, compatible with their mothers in the major blood group systems, in order to attempt an evaluation of the effect of these variables on serum bilirubin level during the first few days of life. Three genetic factors (PGM1, ACP1 and ADA) and three non-genetic variables (rise of bilirubin level during the first day of life, a mother with a history of previous abortion, and use of alcoholic beverages by the mother) have a significant predictive value for the separation of newborns with clinically relevant jaundice from other infants.
Asunto(s)
Ictericia Neonatal/genética , Fosfatasa Ácida/genética , Adenosina Desaminasa/genética , Adenilato Quinasa/genética , Antígenos de Grupos Sanguíneos/genética , Variación Genética , Humanos , Recién Nacido , Polimorfismo Genético , Estudios Prospectivos , Análisis de Regresión , Factores de RiesgoRESUMEN
458 unrelated healthy women at various gestational ages were examined for serum heat-stable alkaline phosphatase (HSALP) activity. The sample was subdivided into four groups according to the compatibility mating type in the ABO and Rh systems: double compatible, ABO incompatible, Rh incompatible and double incompatible. The results confirm the exponential growth of serum placental isoenzyme as a function of gestational age and show that the moment of appearance of the placental isoenzyme is six weeks earlier in double incompatible matings.
Asunto(s)
Sistema del Grupo Sanguíneo ABO , Incompatibilidad de Grupos Sanguíneos/enzimología , Isoenzimas/sangre , Complicaciones del Embarazo/enzimología , Sistema del Grupo Sanguíneo Rh-Hr , Adulto , Fosfatasa Alcalina/sangre , Femenino , Proteínas Ligadas a GPI , Edad Gestacional , Humanos , Masculino , Placenta/enzimología , EmbarazoRESUMEN
Erythrocyte acid phosphatase (ACP1) is a polymorphic enzyme found in many tissues and acts in vivo as a flavin-mononucleotide phosphatase. We have recently observed a relation between this enzyme and length of gestation. The present study shows that the pattern of appearance of serum haptoglobin during the neonatal period is associated with ACP1 phenotype suggesting some important function of this polymorphic enzyme in human development.
Asunto(s)
Fosfatasa Ácida/genética , Haptoglobinas/análisis , Recién Nacido , Fosfatasa Ácida/sangre , Adenosina Desaminasa/genética , Peso al Nacer , Eritrocitos/enzimología , Femenino , Edad Gestacional , Humanos , Masculino , Fenotipo , Polimorfismo GenéticoRESUMEN
Wheezing in children is characterized by at least two major syndromes: "wheezing associated with respiratory infections" and "atopic asthma." The distinction between these two forms is not easy as similarities exist between them. The purpose of this study was to try to differentiate between them. We determined the phenotype of adenosine deaminase (ADA) in 291 children ages 1 mo to 15 yr who had been affected by attacks of wheezing recently requiring clinical attention. The results demonstrated that the frequency of 2-1 ADA phenotype was significantly reduced in wheezers compared to control subjects. Among wheezers, the 2-1 ADA phenotype was normally represented under 5 yr of age but was particularly rare among asthmatic children 5 to 15 yr old. Thus ADA phenotypes may represent a genetic basis for some of the heterogeneity of the asthma syndromes in children.
Asunto(s)
Adenosina Desaminasa/genética , Asma/genética , Nucleósido Desaminasas/genética , Adolescente , Factores de Edad , Asma/diagnóstico , Niño , Preescolar , Femenino , Humanos , Lactante , Masculino , Fenotipo , Ruidos Respiratorios/clasificación , Infecciones del Sistema Respiratorio/diagnósticoRESUMEN
A study of survival time of zygotes in utero and the relationship with parental phenotype of a series of genetic polymorphisms was carried out in 41 couples with habitual abortion. Variability of intrauterine survival time was found to be much higher between families than within families suggesting that several genetic entities contribute to the condition clinically defined as habitual abortion. Significant differences of survival time were found in relation to the length of the paternal Y chromosome and to the maternal phenotypes of PGM1 and Ss. These observations are in line with previous data suggesting intrauterine selection in these polymorphisms. Further studies of the timing of intrauterine death in relation to 'normal' genetic polymorphisms may help to clarify the aetiology of spontaneous fetal loss.
Asunto(s)
Aborto Habitual/genética , Muerte Fetal/genética , Femenino , Edad Gestacional , Antígenos HLA/análisis , Humanos , Isoenzimas/análisis , EmbarazoRESUMEN
A discriminant analysis was performed on a set of maternal and neonatal variables to predict at birth the serum bilirubin levels during the neonatal period in infants incompatible with their mothers in the ABO system. The results suggest that the rational and simultaneous utilization of clinical and laboratory parameters allows, a few hours after delivery, a useful classification of these infants in low or high risk for hyperbilirubinemia.
Asunto(s)
Sistema del Grupo Sanguíneo ABO , Incompatibilidad de Grupos Sanguíneos/complicaciones , Ictericia Neonatal/diagnóstico , Fosfatasa Alcalina/genética , Bilirrubina/sangre , Peso al Nacer , Población Negra , Prueba de Coombs , Femenino , Edad Gestacional , Humanos , Recién Nacido , Ictericia Neonatal/etiología , Masculino , Placenta/enzimología , Embarazo , Riesgo , Estadística como Asunto , Población BlancaRESUMEN
In ABO incompatible infants, a strong association between Coombs test positivity and hyperbilirubinaemia in the first few days of life has been recorded in all samples studied. A remarkable variability between ethnic groups and between different series of infants from the same group has been also observed. A discriminant analysis carried out on several maternal and neonatal variables in two samples of ABO incompatible infants has shown that the Coombs test is the most important predictor of jaundice. Gestational age and birth weight in white and birth weight in black infants gave also important and independent contributions as discriminating variables. Among ABO incompatible black infants the incidence of hyperbilirubinaemia was higher than among ABO incompatible white infants. Discriminant analysis suggests the genetic and environmental factors which predispose to jaundice the ABO incompatible black infants may act mainly through immunological and developmental mechanisms accounted for by Coombs test, gestational length and birth weight.
Asunto(s)
Sistema del Grupo Sanguíneo ABO , Incompatibilidad de Grupos Sanguíneos/complicaciones , Ictericia Neonatal/sangre , Peso al Nacer , Población Negra , Incompatibilidad de Grupos Sanguíneos/diagnóstico , Incompatibilidad de Grupos Sanguíneos/epidemiología , Connecticut , Prueba de Coombs , Europa (Continente) , Femenino , Edad Gestacional , Humanos , Recién Nacido , Ictericia Neonatal/epidemiología , Ictericia Neonatal/etiología , Intercambio Materno-Fetal , Embarazo , Población BlancaRESUMEN
It is well known that subjects homozygous for a rare silent allele of ADA may experience a severe combined immunodeficiency. By analogy we have investigated the possible relationship of normal ADA polymorphism with some situations, such as reproductive defects and fetomaternal interactions, in which immunological mechanisms may play an important role. A total of 572 consecutive newborns, 93 consecutive low birthweight infants, 46 couples with unexplained habitual abortion, and 24 couples with unexplained sterility were studied. The proportion of ADA 2-1 phenotype was reduced in couples with reproductive defects. In the sample of consecutive newborns the proportion of ABO incompatible babies was higher among ADA 2-1 than among ADA 1 types. ADA 2-1 phenotype was also associated with a reduction in the variability of gestational length. These associations were much more marked among male than among female babies. The proportion of ADA 2-1 was significantly lower in low birthweight infants than in the consecutively studied infants and normal adults. The present data suggest that biochemical variability resulting from the normal ADA polymorphism may be, at least in part, responsible for the variability of some immunological functions and related physiological variables and pathological conditions. They also provide evidence in favour of a selective advantage of ADA heterozygotes.
Asunto(s)
Adenosina Desaminasa/genética , Nucleósido Desaminasas/genética , Sistema del Grupo Sanguíneo ABO/genética , Aborto Habitual/genética , Femenino , Humanos , Recién Nacido de Bajo Peso , Recién Nacido , Infertilidad/genética , Masculino , Fenotipo , Polimorfismo Genético , EmbarazoAsunto(s)
Aborto Habitual/genética , Antígenos HLA/genética , Infertilidad/genética , Femenino , Humanos , Masculino , Fenotipo , EmbarazoRESUMEN
Secondary sex ratio (SR) in man is influenced by various genetic and environmental factors. It has been observed that SR in subjects of blood group B compatible with their mothers is higher than in other subjects. The analysis of 676 newborns of the Rome population and 1,684 newborns of the New Haven (Connecticut) population have confirmed a higher SR in B group subjects compatible with their mothers. The data also indicate that placental alkaline phosphatase is another genetic factor influencing SR in man and that there is a strong interaction among ABO phenotype, fetomaternal ABO compatible status and PAP phenotype concerning their effects on SR.
Asunto(s)
Sistema del Grupo Sanguíneo ABO , Fosfatasa Alcalina/genética , Placenta/enzimología , Razón de Masculinidad , Connecticut , Femenino , Humanos , Recién Nacido , Masculino , Embarazo , Ciudad de RomaRESUMEN
Nine genetic polymorphic systems (ACP1, PGM1, ADA, AK, G-6-PD, Hp, ABO, Rh, MN), were studied in a series of 138 subjects affected by JOD. Differences between diabetic patients and controls were observed in the distribution of phenotypes of the red cell acid phosphatase (ACP1), and the ABO and MN blood groups.
Asunto(s)
Fosfatasa Ácida/genética , Antígenos de Grupos Sanguíneos , Diabetes Mellitus Tipo 1/genética , Eritrocitos/enzimología , Polimorfismo Genético , Fosfatasa Ácida/sangre , Niño , Preescolar , Femenino , Frecuencia de los Genes , Humanos , Lactante , Masculino , Fenotipo , Factores SexualesRESUMEN
The present study reports an analysis of genetic differentiation among 14 Sardinian villages located mainly in the center of the island. Chi-square tests show significant genetic heterogeneity among villages, and analyses by F- and R- statistics indicate an essentially random pattern of differentiation for all alleles. Using the kinship methods of Morton, a matrix, R, with elements rij describing the correlations between the gene frequencies of villages i and j is obtained. Use of Malécot's formula relating the rij to the geographic distances between villages shows a rapid decline of kinship with increasing distance but reveals essentially no relationship for distances over 40 km. Rotation of a two-dimensional reduction of the kinship matrix to maximum congruence with the geographic distances indicates that about 25% of the genetic distances can be accounted for by the geographic location of the villages. Isolation due in part to cultural factors, genetic drift, and special local or regional patterns of villages associations appear to be involved in the pattern of genetic variation.