RESUMEN
The study was designed to investigate the effect of dexamethasone (DEX) on the latency period to delivery in a murine model of preterm labor. To this purpose, pregnant mice were randomly assigned in groups: the control group received water for injection (n=20), the preterm labor group was injected with lipopolysaccharide (LPS) (n=22), while the glucocorticoids group was administered DEX either 1h before (n=17) or after (n=7) lipopolysaccharide. In a first set of experiments animals were monitored to record perinatal outcomes. In another set of experiments, the remaining animals were sacrificed eight h after interventions. Fetuses were homogenized to measure tumor necrosis alpha in supernatants. Maternal splenocytes were isolated and stimulated for cytokine production. Serum of mice was incubated with donor cells from healthy pregnant and non-pregnant animals to induce apoptosis. LPS induced preterm labor but treatment or pretreatment with DEX delayed parturition exerting a favorable impact on survival of delivered fetuses. DEX inverted the increase of fetoplacental tumor necrosis alpha levels. Serum of LPS-stimulated mice induced apoptosis of splenocytes of either pregnant or non-pregnant healthy mice; this was reversed after incubation of splenocytes with serum coming from DEX pre-treated mice. The presented findings suggest that DEX administered either as pre-treatment or treatment prolonged gestation and promoted neonatal survival in a sterile murine model of preterm labor. These favorable outcomes were closely linked to alterations in both immune and apoptotic responses of animals.
Asunto(s)
Apoptosis/efectos de los fármacos , Dexametasona/farmacología , Factores Inmunológicos/farmacología , Trabajo de Parto Prematuro/inmunología , Trabajo de Parto Prematuro/patología , Animales , Citocinas/biosíntesis , Femenino , Masculino , Ratones , Trabajo de Parto Prematuro/metabolismo , Embarazo , Bazo/citología , Bazo/efectos de los fármacos , Bazo/metabolismo , Factores de TiempoRESUMEN
Current knowledge on the participation of angiopoietin-2 (Ang-2) in the inflammatory process and on the importance of bacterial endotoxins (LPS) in the induction of preterm delivery (PTD) led us to investigate the role of Ang-2/LPS interplay in the pathogenesis of PTD. At a first stage, Ang-2 was measured at the end of the first trimester of pregnancy in the serum of 50 women who delivered prematurely; of 88 women well-matched for age and parity who delivered full-term; and of 20 non-pregnant healthy women. Ang-2 was greater in pregnant than in non-pregnant women. The time until delivery was shorter among those with Ang-2 greater than 4 ng/ml (odds ratio for delivery until week 34; p: 0.040). To further investigate the role of Ang-2 for PTD, an experimental model of PTD induced by the intraperitoneal injection of LPS in mice was used. Ang-2 was administered intraperitoneally before LPS on day 14 of pregnancy. When Ang-2 was administered before the LPS diluent, all mice delivered full-term. However, administration of Ang-2 prior LPS accelerated further the time until delivery. Sacrifice experiments showed that the effect of Ang-2 was accompanied by decrease of the penetration of Evans Blue in the embryos and by increase of its penetration in maternal tissues. In parallel, the concentration of tumour necrosis factor-alpha in the maternal circulation, in fetal tissues and in the placentas was significantly decreased. Results indicate that Ang-2 accelerated the phenomena of PTD induced by LPS. This is related with deprivation of fetal perfusion.
Asunto(s)
Angiopoyetina 2/sangre , Angiopoyetina 2/farmacología , Nacimiento Prematuro/sangre , Nacimiento Prematuro/inducido químicamente , Animales , Femenino , Edad Gestacional , Humanos , Lipopolisacáridos/efectos adversos , Masculino , Ratones , Ratones Endogámicos C57BL , Placenta/efectos de los fármacos , Placenta/metabolismo , Embarazo , Primer Trimestre del Embarazo/efectos de los fármacos , Primer Trimestre del Embarazo/metabolismo , Estudios Prospectivos , Factor de Necrosis Tumoral alfa/metabolismoRESUMEN
AIMS: To establish reference ranges for fetal volume (FV) measured by three-dimensional ultrasound (3D-US) at 11-14 weeks of gestation and to examine the possible association of FV with maternal/pregnancy characteristics and biochemical parameters. METHODS: Prospective observational study on 240 fetuses at 11-14 weeks. FV was measured by 3D-US using Virtual Organ Computer-Aided Analysis. Pearson correlation coefficient (cc) and regression analysis were used. RESULTS: FV increased exponentially with crown rump length and was unrelated to maternal weight (cc=-0.137, P=0.071), age (cc=0.009, P=0.899), parity (0.76), smoking status (t-test, P=0.149) and mode of conception (t-test, P=0.8). Z-scores (z) of FV was not associated with z-mean uterine artery pulsatility index (cc=-0.026, P=0.733), log10 multiples of the median (MoM) free beta human chorionic gonadotrophin (cc=0.002, P=0.982), delta value (d) of nuchal translucency (cc=0.072, P=0.331) and d-fetal heart rate (cc=0.009, P=0.902), z-FV was significantly positively correlated with log10 MoM pregnancy associated plasma protein-A (PAPP-A; regression coefficient=1.420976, R2=0.0957, P<0.0001). CONCLUSIONS: FV is strongly related to PAPP-A even after adjustment for crown rump length with a mechanism unrelated to placental perfusion. FV is independent of the vast majority of first trimester parameters; hence, it is a promising marker of early fetal growth.
Asunto(s)
Desarrollo Fetal/fisiología , Primer Trimestre del Embarazo/fisiología , Ultrasonografía Prenatal , Adulto , Biomarcadores/sangre , Gonadotropina Coriónica Humana de Subunidad beta/sangre , Estudios Transversales , Femenino , Edad Gestacional , Frecuencia Cardíaca Fetal , Humanos , Interpretación de Imagen Asistida por Computador , Imagenología Tridimensional , Medida de Translucencia Nucal , Embarazo , Primer Trimestre del Embarazo/sangre , Proteína Plasmática A Asociada al Embarazo/metabolismo , Estudios Prospectivos , Flujo Pulsátil , Valores de Referencia , Análisis de Regresión , Ultrasonografía Prenatal/métodos , Arteria Uterina/fisiologíaRESUMEN
The limited predictive value of semen analysis in achieving natural conception or in IVF outcome confirms the need for sperm function tests to determine optimal management. We reviewed HZA and SPA predictive power in IVF outcome, with statistical significance of diagnostic power of the assays. HZA was readily efficient in predicting IVF outcome, while evident inconsistency among the studies analysed framed the SPA's role in male fertility evaluation. Considerable variation was noted in the diagnostic accuracy values of SPA with wide sensitivity (52-100%), specificity (0-100%), and PPV (18-100%) and NPV (0-100%) together with fluctuation and notable differentiation in methodology and cutoff values employed by each group. HZA methodology was overall consistent with minor variation in cutoff values and oocyte source, while data analysis reported strong correlation between HZA results with IVF outcome, high sensitivity (75-100%), good specificity (57-100%), and high PPV (79-100%) and NPV (68-100%). HZA correlated well with IVF outcome and demonstrated better sensitivity/specificity and positive/negative predictive power. Males with normal or slightly abnormal semen profiles could benefit by this intervention and could be evaluated prior to referral to assisted reproduction. HZA should be used in a sequential fashion with semen analysis and potentially other bioassays in an IVF setting.
Asunto(s)
Fertilización In Vitro , Análisis de Semen/métodos , Interacciones Espermatozoide-Óvulo , Femenino , Humanos , Masculino , Valor Predictivo de las Pruebas , Embarazo , Interacciones Espermatozoide-Óvulo/fisiología , Resultado del Tratamiento , Zona Pelúcida/fisiologíaRESUMEN
Through a non-randomized clinical trial, we examined the theoretical benefit of the coadministration of low molecular weight heparin (LMWH) and prednisolone on pregnancy outcomes in women with previously failed IVF/ICSI cycles. Fifteen women constituted the study group, and were compared with 19 women receiving LMWH alone and another 18 women with no drugs. Our finding that the combination of the two drugs produced positive differences in terms of embryo quality, pregnancy and live birth rates points to the necessity for adequately powered randomized trials.
Asunto(s)
Anticoagulantes/farmacología , Ectogénesis , Enoxaparina/farmacología , Fármacos para la Fertilidad Femenina/farmacología , Fertilización In Vitro , Glucocorticoides/farmacología , Prednisolona/farmacología , Aborto Espontáneo/prevención & control , Administración Intravaginal , Administración Oral , Adulto , Anticoagulantes/administración & dosificación , Terminación Anticipada de los Ensayos Clínicos , Enoxaparina/administración & dosificación , Femenino , Fármacos para la Fertilidad Femenina/administración & dosificación , Glucocorticoides/administración & dosificación , Grecia/epidemiología , Humanos , Infertilidad Femenina/terapia , Nacimiento Vivo , Proyectos Piloto , Prednisolona/administración & dosificación , Embarazo , Mantenimiento del Embarazo/efectos de los fármacos , Índice de Embarazo , Inyecciones de Esperma IntracitoplasmáticasRESUMEN
OBJECTIVE: Investigate changes in the cellular component of maternal immune system in a murine preterm delivery (PTD) model. METHODS: C57BL/6 J mice were mated and on day 14.5 after plugging either whole blood was harvested or Escherichia coli lipopolysaccharide (LPS) was intraperitoneally injected. PTD resulted within 24 h. Ten to twelve hours after LPS injection (initiation of labor), whole blood was harvested. Annexin-V, CD3, CD4, CD8, CD80 and CD86 were counted after running through flow cytometer with gating for mononuclear cells. Control group consisted of non-pregnant mice. RESULTS: Rate of apoptosis of monocytes and lymphocytes and expression of CD80(+) and CD86(+) was increased in non-pregnant mice after LPS injection (p = 0.009, p = 0.002, p < 0.001 and p = 0.005, respectively), but remained unaltered in pregnant mice. Expression of CD3(+)/4(+) and CD3(+)/8(+) on lymphocytes was increased after LPS injection in both pregnant (p = 0.001, p = 0.011, respectively) and non-pregnant mice (p = 0.008, p < 0.001, respectively). CONCLUSIONS: Cellular component of maternal non-specific immune system is remain suppressed in pregnant mice, whereas specific immune responses of pregnant mice to infection are similar to these of non-pregnant mice.
Asunto(s)
Linfocitos/inmunología , Monocitos/inmunología , Trabajo de Parto Prematuro/inmunología , Animales , Apoptosis/inmunología , Femenino , Sistema Inmunológico/inmunología , Lipopolisacáridos/inmunología , Recuento de Linfocitos , Ratones , Ratones Endogámicos C57BL , Modelos Animales , EmbarazoRESUMEN
OBJECTIVE: To study the association of fß-hCG and PAPP-A measured at 11-14 weeks of gestation with delta crown-rump-length (dCRL), delta fetal heart rate (dFHR) and delta nuchal translucency (dNT). To calculate adjusted MoM taking into consideration these associations. METHODS: Retrospective cross-sectional study on 5,536 singleton euploid pregnancies participating in a first trimester screening program for chromosomal abnormalities by nuchal translucency and maternal serum biochemistry. Adjusted MoM were calculated for fß-hCG and PAPP-A and compared to the observed MoM (calculated by the Fetal Medicine Foundation screening algorithm). RESULTS: fß-hCG correlates positively with dCRL and negatively with dNT, whereas PAPP-A shows a positive correlation with dNT and a negative one with dCRL and dFHR. After adjustment for the ultrasound parameters, the median MoM values for fß-hCG and PAPP-A changed from 1.02 and 0.92 observed MoM to 0.98 and 0.99 adjusted MoM respectively. The difference between the observed and adjusted MoM was statistically significant (p < 0.001). Delta CRL increases with gestation and this effect manifests mainly after CRL of 62 mm. CONCLUSIONS: Adjustment for dCRL, dFHR and dNT improves the calculation of MoM for fß-hCG and PAPP-A. CRL measurement overestimates fetal size at the end of the screening period 11-14 weeks.
Asunto(s)
Gonadotropina Coriónica Humana de Subunidad beta/sangre , Frecuencia Cardíaca Fetal , Medida de Translucencia Nucal , Proteína Plasmática A Asociada al Embarazo/metabolismo , Embarazo/sangre , Adolescente , Adulto , Estudios Transversales , Femenino , Humanos , Primer Trimestre del Embarazo , Estudios Retrospectivos , Adulto JovenRESUMEN
OBJECTIVE: The present study was designed to assess the utility of Doppler velocimetry in the setting of non-reassuring cardiotocography tracings. METHODS: Two hundred fifty six women with term singleton pregnancies were enrolled in a controlled trial. Patients received either routine cardiotocograpic (CTG) monitoring, or CTG with the addition of Doppler velocimetry in cases of non-reassuring CTG tracings. The results were analyzed according to protocol. RESULTS: In the CTG+Doppler group, there was a trend toward lower risk of neonatal metabolic acidosis than in the CTG group, although the incidence was rare. The CTG+Doppler group had significantly lower rates of cesarean section for fetal distress, and improved neonatal outcomes. CONCLUSIONS: We conclude that intrapartum fetal Doppler velocimetry, when combined with CTG, increases the clinicians' ability to accurately identify fetal hypoxia, and decreases the rate of Cesarean section.
Asunto(s)
Cardiotocografía , Cesárea/estadística & datos numéricos , Ultrasonografía Doppler , Ultrasonografía Prenatal , Femenino , Grecia , Humanos , Recién Nacido , Arteria Cerebral Media/fisiología , Embarazo , Estudios Prospectivos , Reología , Arterias Umbilicales/fisiologíaRESUMEN
OBJECTIVE: To identify maternal/pregnancy characteristics, first trimester ultrasound parameters and biochemical indices which are significant independent predictors of small-for-gestational age (SGA) and large-for-gestational age (LGA) neonates. DESIGN: Retrospective cross-sectional study. SETTING: Two fetal Medicine Units. POPULATION: 4 702 singleton pregnancies presenting for screening for chromosomal abnormalities by nuchal translucency and maternal serum biochemistry at 11-14 weeks. METHODS: Reference ranges for birthweight applied to our population were constructed by the Royston and Wright method. Multiple logistic regression was applied to develop first trimester prediction models for SGA and LGA. MAIN OUTCOME MEASURES: Birth of SGA or LGA neonate. RESULTS: Maternal height, parity, smoking, assisted conception, delta crown-rump length, delta nuchal translucency, free beta human chorionic gonadotrophin and pregnancy-associated plasma protein-A were significant independent predictors of SGA. Maternal weight and height, smoking, delta crown-rump length and delta nuchal translucency were significant independent predictors of LGA. Models for SGA (AUC=0.7296, CI: 0.69-0.76, p<0.0001) and LGA (AUC=0.6901, CI: 0.65-0.72, p<0.0001) were derived, applicable to routine obstetric population at low risk for these conditions. For 20% screen positive rate the modeling achieves sensitivities of about 55% for SGA and 48% for LGA neonates. CONCLUSION: Prediction for birthweight deviations is feasible using data available at the routine 11-14 weeks' examination. Delta CRL and delta nuchal translucency were significant independent predictors for both SGA and LGA.
Asunto(s)
Gonadotropina Coriónica Humana de Subunidad beta/sangre , Macrosomía Fetal/diagnóstico , Recién Nacido Pequeño para la Edad Gestacional , Primer Trimestre del Embarazo , Diagnóstico Prenatal/métodos , Adolescente , Adulto , Estudios Transversales , Femenino , Macrosomía Fetal/sangre , Macrosomía Fetal/diagnóstico por imagen , Humanos , Recién Nacido , Modelos Logísticos , Persona de Mediana Edad , Modelos Biológicos , Medida de Translucencia Nucal , Embarazo , Primer Trimestre del Embarazo/sangre , Proteína Plasmática A Asociada al Embarazo/metabolismo , Estudios Retrospectivos , Medición de Riesgo , Sensibilidad y Especificidad , Ultrasonografía Prenatal , Adulto JovenRESUMEN
OBJECTIVE: To report the case of a couple with infertility and two unsuccessful previous attempts of ovarian stimulation for in vitro fertilization (IVF), whose nonclassic congenital adrenal hyperplasia (NC-CAH) due to 21-hydroxylase deficiency (21-OHD) was diagnosed and verified by molecular studies. DESIGN: Case report. SETTING: Outpatient practice and academic hospital. PATIENT(S): A woman with hyperandrogenism, luteal phase deficiency, and polycystic ovaries, and a man with oligospermia, a high rate of abnormal forms of spermatozoa (>95%), decreased sperm motility, and normal testicular volume. INTERVENTION(S): Ultrasonography, semen analysis, endocrinologic assays, corticosteroids. MAIN OUTCOME MEASURE(S): Increased basal and adrenocorticotropic hormone (ACTH) stimulated 17α-hydroxyprogesterone (17-OHP) values were detected in both partners. CYP21A2 genotyping revealed compound heterozygosity in both wife and husband (wife: p.P30L/p.P453S; husband: p.P453S /p.V281L). RESULT(S): Hydrocortisone, 30 mg/day orally, was administered to both wife and husband. Forty days later, a pregnancy was detected. The prospective mother continued to receive hydrocortisone (25 mg/day) adjusted according to her hormone status. After a full-term uneventful pregnancy, a completely normal female was born. The baby had NC-CAH (genotype p.P30L/p.V281L). CONCLUSION(S): Nonclassic congenital adrenal hyperplasia, a potential cause of infertility in couples, can be successfully treated with corticosteroids.
Asunto(s)
Hiperplasia Suprarrenal Congénita/diagnóstico , Glucocorticoides/uso terapéutico , Infertilidad Femenina/diagnóstico , Infertilidad Masculina/diagnóstico , Hiperplasia Suprarrenal Congénita/tratamiento farmacológico , Hiperplasia Suprarrenal Congénita/genética , Adulto , Femenino , Humanos , Infertilidad Femenina/tratamiento farmacológico , Infertilidad Femenina/genética , Infertilidad Masculina/tratamiento farmacológico , Infertilidad Masculina/genética , Masculino , EmbarazoRESUMEN
AIM: Selected cytokines, associated with Th1 and Th2 immune response and inflammation, were studied in order to evaluate the relation between their release into maternal and neonatal circulation, during labour, and after birth, in comparison with those in adults. MATERIALS AND METHODS: Cytokine concentrations were determined by very sensitive immunoassays, in maternal serum (MS), umbilical cord (UC), neonatal serum, the 1st (1N) and 5th (5N) day postpartum and in adult controls. RESULTS: Both IL-2 and IL-4 cytokine concentrations in UC were markedly elevated, compared to adult and MS ones. IL-2 decreased significantly in 5N, while IL-4 remained unchanged. IFN-gamma UC values were significantly lower than those in adults and MS, increasing significantly in 5N. Neonatal serum sIL-2R and sIL-4R were markedly higher than those in adults and MS. IL-1beta, IL-6, sIL-6R, sTNFRI and sTNFRII concentrations in MS and all with TNF-alpha in neonatal serum were significantly higher than in adults. IFN-gamma, IL-1beta, IL-6, TNF-alpha, IL-2R, IL-4R concentrations in MS, 1N and 5N were dependent on the mode of delivery. CONCLUSION: The results of this comparative study are indicative for a meaningful role for the studied cytokines and their receptors in: i) the development of neonatal immune system, ii) the regulation of immune response during labour and early life, and iii) the initiation of the processes of labour.
Asunto(s)
Citocinas/sangre , Sistema Inmunológico/crecimiento & desarrollo , Inmunidad Materno-Adquirida , Recién Nacido/inmunología , Trabajo de Parto/inmunología , Nacimiento a Término/inmunología , Adulto , Femenino , Sangre Fetal/química , Sangre Fetal/metabolismo , Humanos , Recién Nacido/sangre , Trabajo de Parto/sangre , Masculino , Embarazo , Nacimiento a Término/sangre , Adulto JovenRESUMEN
Congenital adrenal hyperplasia (CAH) due to deficiency of the enzyme 21-hydroxylase (21-OH) is distinguished in classical (C-CAH) and non-classical form (NC-CAH), and it is also one of the most common autosomal recessive inherited disorders in humans. The prevalence of C-CAH is between 1:10,000 and 1:15,000 among the live neonates of North America and Europe while the NC-CAH occurs in approximately 0.2% of the general white population. The highest incidence of CAH (1:282 and 1:2141, respectively) has been evaluated in Yupik Eskimos in Alaska and in the populations of the island La Reunion (France), while the lower was detected in New Zealand newborns (0.3%). Nowadays, it has been established that except for the adrenal cortex in CAH cases, the adrenal medulla was also affected. In human 21-OH deficient adrenal gland it has been discovered that not only the chromaffin cells formed extensive neurites, expanding between adrenocortical cells, but also that the adrenal androgens promote outgrowth, whereas glucocorticoids preserve neuroendocrine cells. It seems that normal cortisol secretion by the adrenal cortex is necessary for adrenomedullary organogenesis. The synthesis of 21-OH is controlled by the active CYP21A2 gene located at a distance of 30 kb from a highly homologous pseudogene designated CYP21A1P.
Asunto(s)
Hiperplasia Suprarrenal Congénita , Hiperplasia Suprarrenal Congénita/diagnóstico , Hiperplasia Suprarrenal Congénita/epidemiología , Hiperplasia Suprarrenal Congénita/etiología , Hiperplasia Suprarrenal Congénita/genética , Algoritmos , Técnicas de Diagnóstico Endocrino , Asesoramiento Genético/métodos , Genética de Población/tendencias , Genotipo , Humanos , Incidencia , Diagnóstico Prenatal/métodos , Esteroide 21-Hidroxilasa/genéticaRESUMEN
OBJECTIVE: The study aimed to estimate the incidence of increased nuchal translucency in the first trimester ultrasound scan results (cut-off limit 2.5 mm) and to evaluate the predictive value of increased nuchal translucency as a screening test for the detection of fetal chromosomal abnormalities. METHODS: We used the ultrasound scan results of nuchal translucency evaluation and the results of chromosomal analysis of the invasive prenatal control performed as a result of increased nuchal translucency. RESULTS: We collected 2183 nuchal translucency ultrasound scans in which we detected 21 embryos with a pathologic value (0.96%). We collected the data of 168 cases of invasive prenatal control due to increased nuchal translucency from which 122 cases were found. A total of 122 cases of pregnant women undergone an invasive prenatal diagnostic method due to increased nuchal translucency, of which 11 fetuses were found with trisomy 21 (Down syndrome) (9%), 3 fetuses with trisomy 13 (Patau syndrome) (2.45%), 3 fetuses with monosomy 45XO (Turner syndrome) (2.45%) and 1 fetus with translocation (0.8%). CONCLUSIONS: The positive predictive value of the increased fetal nuchal translucency as a screening test for the detection of fetal chromosomal abnormalities based on the results of the chromosomal-genetic analysis of the invasive prenatal diagnostic procedures is 14.8%.
Asunto(s)
Aberraciones Cromosómicas , Enfermedades Fetales/diagnóstico por imagen , Enfermedades Fetales/genética , Medida de Translucencia Nucal/métodos , Adolescente , Adulto , Amniocentesis/estadística & datos numéricos , Análisis Citogenético/métodos , Análisis Citogenético/estadística & datos numéricos , Síndrome de Down/diagnóstico , Síndrome de Down/genética , Femenino , Disgenesia Gonadal/diagnóstico , Disgenesia Gonadal/genética , Humanos , Edad Materna , Persona de Mediana Edad , Medida de Translucencia Nucal/estadística & datos numéricos , Valor Predictivo de las Pruebas , Embarazo , Primer Trimestre del Embarazo/fisiología , Adulto JovenRESUMEN
Congenital adrenal hyperplasia (CAH) due to deficiency of the enzyme 21-hydroxylase (21-OH), is distinguished in its classical and nonclassical form and is one of the most common autosomal recessive inherited diseases in humans. The classical form appears between 1:5000 and 1:15000 among the live neonates of North America and Europe, whereas the nonclassical form occurs in approximately 0.2% of the general white populations. Three alleles are associated with the 21-OH locus and can be combined in various ways to individuals who are either unaffected, heterozygote carriers, or affected with the classical or nonclassical disease. Variable signs and symptoms of hyperandrogenism are common to both types of the disorder. In women with CAH, hyperandrogenism may be present, extending from virilization of external genitalia and salt-wasting in classical (C)-CAH cases, to menstrual irregularity, obesity, short stature, infertility or subfertility and skin disorders such as hirsutism, in nonclassical (NC)-CAH cases. These clinical characteristics of NC-CAH cases do not differ unmarkedly from those shown in patients with polycystic ovary syndrome, idiopathic hirsutism, or hyperinsulinemia. The significant advances in molecular biology and gene analysis over the past 2 decades have led to the development of novel sensitive methods of DNA analysis and study, including polymerase chain reaction and Southern blot analysis. Thus it has been revealed that the 21-OH gene (CYP21A2) and its nonfunctional pseudogene (CYP21A1P) are located on chromosome 6 (6p21.3), sharing a high homology of about 98%. Inactivating mutations occur as complete gene deletions, large gene conversions and pseudogene-derived mutations.
Asunto(s)
Hiperplasia Suprarrenal Congénita/epidemiología , Hiperplasia Suprarrenal Congénita/genética , Esteroide 21-Hidroxilasa/genética , Femenino , HumanosRESUMEN
UNLABELLED: The study was aimed to find out the prevalence of non-classical congenital adrenal hyperplasia (NC-CAH) due to 21-hydroxylase deficiency (21-OHdef) among Greek women with hirsutism and polycystic ovary syndrome (PCOS) and to compare the results of ACTH stimulated 17-hydroxyprogesterone 60 min (17-OHP60) values, with human leukocyte antigens (HLA) phenotypes, in any patient diagnosed as having NC-CAH. One hundred and seven women with hirsutism and PCOS were included in the study. All were presented at the Reproductive Endocrinology Outpatient Clinic with hirsutism and PCOS. After ACTH stimulation test, 10 women were diagnosed as having NC-CAH because of high 17-OHP60 values >or=36 nmol/l, and 97 as having PCOS. Ten (10.3%) of the 97 women presented hormonal findings compatible with adrenal hyper-response due to ACTH testing, because of hyperstimulated 17-OHP60 values >or=21 nmol/l and <32 nmol/l. The HLA typing of 10 patients with NC-CAH revealed the phenotypes B14, DR1, B35, B7 and B44 which present positively genetic linkage disequilibrium with 21-OHdef, as reported in the literature. IN CONCLUSION: In Greek women with hirsutism and PCOS we have found that: a. The prevalence of NC-CAH among these women is relatively high and reaches at 10%. b. The HLA phenotypes B(14), DR(1), B(35), B(7) and B44 were found in high frequency in these NC-CAH patients. c. Adrenal NC-CAH due to 21-OHdef as well as adrenal hyperactivity, revealed after ACTH testing, constitutes an important reason of hirsutism and PCOS in these Greek women and both reach a rate of 20%.
Asunto(s)
Hiperplasia Suprarrenal Congénita/epidemiología , Hirsutismo/epidemiología , Síndrome del Ovario Poliquístico/epidemiología , Esteroide 21-Hidroxilasa/genética , Adolescente , Hiperplasia Suprarrenal Congénita/complicaciones , Hiperplasia Suprarrenal Congénita/genética , Adulto , Índice de Masa Corporal , Niño , Femenino , Grecia , Hirsutismo/complicaciones , Prueba de Histocompatibilidad , Humanos , Síndrome del Ovario Poliquístico/complicaciones , PrevalenciaRESUMEN
Autoimmune hemolytic anemia is a rare disorder. A 34-year old woman presented with thrombophlebitis after her first delivery, during puerperium. A high titer of cold agglutinins was found. Lymphomas, systemic lupus erythematosus, and tumors were excluded. She conceived again. Due to the anemia she had frequent blood transfusions and she delivered at 38 weeks of gestation.
Asunto(s)
Anemia Hemolítica Autoinmune/diagnóstico , Autoanticuerpos/sangre , Complicaciones Hematológicas del Embarazo/diagnóstico , Tromboflebitis/etiología , Adulto , Anemia Hemolítica Autoinmune/sangre , Anemia Hemolítica Autoinmune/complicaciones , Anemia Hemolítica Autoinmune/terapia , Crioglobulinas/metabolismo , Transfusión de Eritrocitos , Femenino , Humanos , Periodo Posparto , Embarazo , Complicaciones Hematológicas del Embarazo/sangre , Complicaciones Hematológicas del Embarazo/terapiaRESUMEN
The uterus is an extremely rare location for a primary or metastatic melanoma. We describe the ultrasonographic appearance of a malignant melanoma of the uterus presenting clinically as a large mass in a 78-year-old woman. Transabdominal sonography revealed a solid uterine mass measuring 13 x 11.5 x 8.5 cm with inhomogeneous echotexture and bright internal echoes. The tumor showed a diffuse spread inside the uterine corpus, and the endometrium was not demonstrated ultrasonographically.
Asunto(s)
Melanoma/diagnóstico por imagen , Neoplasias Uterinas/diagnóstico por imagen , Anciano , Femenino , Humanos , UltrasonografíaRESUMEN
OBJECTIVE: To investigate the efficacy and safety of intrapartum fetal pulse oximetry, as a predictor of metabolic acidosis at birth of fetuses with intrauterine growth retardation (IUGR). STUDY DESIGN: We studied 18 IUGR fetuses (group I) and a control group of 30 appropriate for gestational age (AGA) fetuses (group II) during labor. Both groups had abnormal fetal heart rate tracings and were monitored simultaneously throughout labor with cardiotocography and fetal pulse oximetry. Apgar scores, pH and base excess of fetal blood obtained from the umbilical artery after delivery were compared in both groups. SETTING: The Fetal Surveillance Unit of the 2nd Department of Obstetrics and Gynecology, Aretaieion Hospital, Medical School, Athens University. RESULTS: In IUGR fetuses, when their oxygen saturation value (FSPO2) was less than 34%, cord artery pH was 7.10 +/- 0.04, base excess -13 +/- -1 mmol/l and Apgar scores < or =5 at the 5th min, and when FSPO2 was over 35%, artery pH was 7.29 +/- 0.08, base excess -8 +/- -2 mmol/l and Apgar scores > or =7 at the 5th minute. In cases of drops of FSPO2)below 30% for more than 2 min, labor was completed operatively and cord pH was 7.00 +/- 0.04, base excess -15 +/- -2 mmol/l and Apgar scores < or =5 at the 5th minute. In AGA fetuses, when FSPO2 was over 30%, artery pH was over 7.20, base excess <-11 mmol/l and Apgar scores > or =9 at the 5th minute; in contrast, when FSPO2 was <30% for 2 min, a cesarean section was performed and cord pH was < or =7.02, base excess > or =-13 mmol/l and Apgar scores < or =4 at the 5th minute. CONCLUSIONS: In IUGR fetuses, FSPO2 values less than 34% represent an acidotic status, while values of > or =35% are well tolerated. Fetal pulse oximetry proved reliable, according to umbilical cord blood measurements and Apgar scores, reducing cesarean deliveries in cases of nonreassuring cardiotocographic patterns in IUGR fetuses.