Your browser doesn't support javascript.
loading
Mostrar: 20 | 50 | 100
Resultados 1 - 20 de 28
Filtrar
1.
Obstet Gynecol ; 131(3): 529-533, 2018 03.
Artículo en Inglés | MEDLINE | ID: mdl-29420398

RESUMEN

BACKGROUND: The sliding sign (the relative motion between the abdominal and uterine wall as assessed by ultrasonography) may help identify severe intra-abdominal adhesions before repeat cesarean delivery. METHODS: We conducted a prospective observational study of scheduled repeat cesarean deliveries. Using transabdominal ultrasonography, while the parturient breathed deeply, the ultrasonographer recorded a video clip in a sagittal plane lateral to the umbilicus. These clips were assessed for the presence (sliding-positive) or absence (sliding-negative) of relative movement between the maternal abdominal and uterine wall. Surgeons blinded to ultrasonography results graded the severity of intraperitoneal adhesions intraoperatively. Study outcomes were the accuracy of the preoperative sliding sign for prediction of severe adhesions and its association with surgical times and bleeding. EXPERIENCE: We recruited 370 women. A negative sliding sign was associated with severe adhesions (sensitivity 56%, 95% CI 35-76; specificity 95%, 95% CI 93-97). A similar accuracy (sensitivity 64%, 95% CI 43-82; specificity 94%, 95% CI 92-97) was achieved by combining the sliding sign with a history of adhesions in the previous surgery. In multivariable models, a negative sliding sign was significantly correlated with a longer interval from skin incision to delivery and increased risk for bleeding. CONCLUSION: A negative sliding sign predicts severe intra-abdominal adhesions encountered during repeat cesarean delivery, longer time to delivery, and a higher chance of bleeding.


Asunto(s)
Abdomen/diagnóstico por imagen , Cesárea Repetida , Complicaciones Posoperatorias/diagnóstico por imagen , Adherencias Tisulares/diagnóstico por imagen , Ultrasonografía Prenatal , Adulto , Femenino , Humanos , Complicaciones Posoperatorias/etiología , Embarazo , Estudios Prospectivos , Factores de Riesgo , Sensibilidad y Especificidad , Método Simple Ciego , Adherencias Tisulares/etiología
2.
Gynecol Obstet Invest ; 83(1): 57-64, 2018.
Artículo en Inglés | MEDLINE | ID: mdl-28715801

RESUMEN

AIM: In this study, we evaluate the associations between fetal urinary production rate (FUPR), measured by ultrasound, and adverse neonatal outcome in women with preterm premature rupture of membranes (PPROM). METHODS: We conducted a prospective pilot cohort of singleton pregnancies complicated by PPROM occurring at gestational week 24 or later managed until spontaneous labor (after 48 h of admission), chorioamnionitis, or induction by protocol at 35 + 0 weeks. FUPR was evaluated by 2D sonography at admission (corrected for gestational age). The main neonatal outcome measures were chorioamnionitis, placental inflammatory grading, first neonatal creatinine value, first neonatal dextrose value, length of neonatal intensive care unit (NICU) stay, necrotizing enterocolitis (NEC), intraventricular hemorrhage (IVH) (grades I-IV), blood transfusions, reduced neonatal urine production rate (<4 mL/kg/h), and early neonatal sepsis. Samples of maternal (at admission) and umbilical cord blood were analyzed for interleukin-6 (IL-6) level. RESULTS: The study included 38 women. Low FUPR was associated with clinical chorioamnionitis, longer NICU hospitalization (p = 0.01), higher rates of NEC or IVH (p = 0.008), and blood transfusion (p = 0.004). CONCLUSIONS: A finding of FUPR on in utero ultrasound examination in pregnancies complicated by PPROM may be indicative of adverse neonatal outcome.


Asunto(s)
Rotura Prematura de Membranas Fetales/orina , Feto/fisiopatología , Enfermedades del Recién Nacido/etiología , Adulto , Hemorragia Cerebral/etiología , Corioamnionitis/etiología , Enterocolitis Necrotizante/etiología , Femenino , Sangre Fetal , Rotura Prematura de Membranas Fetales/fisiopatología , Edad Gestacional , Humanos , Recién Nacido , Recien Nacido Prematuro , Interleucina-6/sangre , Proyectos Piloto , Embarazo , Resultado del Embarazo , Estudios Prospectivos
3.
Isr Med Assoc J ; 19(10): 604-609, 2017 Oct.
Artículo en Inglés | MEDLINE | ID: mdl-29103236

RESUMEN

BACKGROUND: Two types of growth curves are commonly used to diagnose fetal growth disorders: neonatal birth weight (BW) and sonographic estimated fetal weight (EFW). The debate as to which growth curve to use is universal. OBJECTIVES: To establish sonographic EFW growth curves for the Israeli population and to assess whether the use of the BW growth curves currently adapted in Israel leads to under-diagnosis of intrauterine growth disorders. METHODS: Biometric data collected during a 6 year period was analyzed to establish sonographic EFW growth curves between 15-42 weeks of gestation for the Israeli population. Growth curves were compared to previously published sonographic EFW growth curves. A comparison with the Israeli BW growth curves was performed to assess the possibility of under-diagnosis of intrauterine growth disorders. RESULTS: Out of 42,778 sonographic EFW studies, 31,559 met the inclusion criteria. The sonographic EFW growth curves from the current study resembled the EFW curves previously published. The comparison of the current sonographic EFW and BW growth curves revealed under-diagnosis of intrauterine growth disorders during the preterm period. Four percent of the fetuses assessed between 26-34 weeks would have been suspected of being growth restricted; 2.8 percent of the fetuses assessed between 30-36 weeks would have been suspected of having macrosomia, based on the BW growth curves. CONCLUSIONS: New Israeli sonographic EFW growth curves resemble previously published sonographic EFW curves. Using BW growth curves may lead to the under-diagnosis of growth disorders. We recommend adopting sonographic EFW growth to diagnose intrauterine growth disorders.


Asunto(s)
Peso al Nacer , Desarrollo Fetal , Retardo del Crecimiento Fetal , Peso Fetal , Ultrasonografía Prenatal , Adulto , Biometría/métodos , Femenino , Retardo del Crecimiento Fetal/diagnóstico , Retardo del Crecimiento Fetal/epidemiología , Edad Gestacional , Humanos , Recién Nacido , Israel , Masculino , Embarazo , Reproducibilidad de los Resultados , Estudios Retrospectivos , Ultrasonografía Prenatal/métodos , Ultrasonografía Prenatal/estadística & datos numéricos
4.
Gynecol Endocrinol ; 33(10): 797-800, 2017 Oct.
Artículo en Inglés | MEDLINE | ID: mdl-28454495

RESUMEN

Use of hormone contraceptives (HC) is very popular in the reproductive age and, therefore, evaluation of ovarian reserve would be a useful tool to accurately evaluate the reproductive potential in HC users. We conducted a retrospective cohort study of 41 HC users compared to 57 non-HC users undergoing IVF-preimplantation genetic diagnosis (PGD) aiming to evaluate the effect of HC on the levels of anti-Mullerian hormone (AMH), small (2-5 mm), large (6-10 mm) and total antral follicle count (AFC) and the ability of these markers to predict IVF outcome. Significant differences in large AFC (p = 0.04) and ovarian volume (p < 0.0001) were seen, however, there were no significant differences in small and total AFC or in serum AMH and FSH levels. Oocyte number significantly correlated with AMH and total AFC in HC users (p < 0.001) while in non-HC users these correlations were weaker. In HC users, the significant predictors of achieving <6 and >18 oocytes were AFC (ROC-AUC; 0.958, p = 0.001 and 0.883, p = 0.001) and AMH (ROC-AUC-0.858, p = 0.01 and 0.878, p = 0.001), respectively. The predictive values were less significant in non-HC users. These findings are important in women treated for PGD, in ovum donors and for assessing the fertility prognosis in women using HC and wishing to postpone pregnancy.


Asunto(s)
Hormona Antimülleriana/sangre , Conducta Anticonceptiva/estadística & datos numéricos , Anticonceptivos/uso terapéutico , Fertilización In Vitro , Folículo Ovárico/citología , Reserva Ovárica , Diagnóstico Preimplantación , Adulto , Recuento de Células , Femenino , Fertilización In Vitro/estadística & datos numéricos , Humanos , Valor Predictivo de las Pruebas , Embarazo , Diagnóstico Preimplantación/estadística & datos numéricos , Estudios Retrospectivos , Adulto Joven
6.
Neurology ; 86(21): 2016-24, 2016 05 24.
Artículo en Inglés | MEDLINE | ID: mdl-27164683

RESUMEN

OBJECTIVE: To identify the genetic basis of a recessive syndrome characterized by prenatal hyperechogenic brain foci, congenital microcephaly, hypothalamic midbrain dysplasia, epilepsy, and profound global developmental disability. METHODS: Identification of the responsible gene by whole exome sequencing and homozygosity mapping. RESULTS: Ten patients from 4 consanguineous Palestinian families manifested in utero with hyperechogenic brain foci, microcephaly, and intrauterine growth retardation. Postnatally, patients had progressive severe microcephaly, neonatal seizures, and virtually no developmental milestones. Brain imaging revealed dysplastic elongated masses in the midbrain-hypothalamus-optic tract area. Whole exome sequencing of one affected child revealed only PCDH12 c.2515C>T, p.R839X, to be homozygous in the proband and to cosegregate with the condition in her family. The allele frequency of PCDH12 p.R839X is <0.00001 worldwide. Genotyping PCDH12 p.R839X in 3 other families with affected children yielded perfect cosegregation with the phenotype (probability by chance is 2.0 × 10(-12)). Homozygosity mapping revealed that PCDH12 p.R839X lies in the largest homozygous region (11.7 MB) shared by all affected patients. The mutation reduces transcript expression by 84% (p < 2.4 × 10(-13)). PCDH12 is a vascular endothelial protocadherin that promotes cellular adhesion. Endothelial adhesion disruptions due to mutations in OCLN or JAM3 also cause congenital microcephaly, intracranial calcifications, and profound psychomotor disability. CONCLUSIONS: Loss of function of PCDH12 leads to recessive congenital microcephaly with profound developmental disability. The phenotype resembles Aicardi-Goutières syndrome and in utero infections. In cases with similar manifestations but no evidence of infection, our results suggest consideration of an additional, albeit rare, cause of congenital microcephaly.


Asunto(s)
Encéfalo/diagnóstico por imagen , Cadherinas/genética , Microcefalia/diagnóstico por imagen , Microcefalia/genética , Mutación , Encéfalo/crecimiento & desarrollo , Consanguinidad , Análisis Mutacional de ADN , Discapacidades del Desarrollo/diagnóstico por imagen , Discapacidades del Desarrollo/genética , Diagnóstico Diferencial , Femenino , Retardo del Crecimiento Fetal/diagnóstico por imagen , Retardo del Crecimiento Fetal/genética , Humanos , Lactante , Recién Nacido , Linaje , Fenotipo , Embarazo , Complicaciones Infecciosas del Embarazo/diagnóstico por imagen , Diagnóstico Prenatal , Protocadherinas , Síndrome , Enfermedades Uterinas/diagnóstico por imagen
7.
Eur J Hum Genet ; 24(7): 968-75, 2016 07.
Artículo en Inglés | MEDLINE | ID: mdl-26577044

RESUMEN

Non-invasive prenatal testing is increasingly available worldwide and stakeholder viewpoints are essential to guide implementation. Here we compare the preferences of women and health professionals from nine different countries towards attributes of non-invasive and invasive prenatal tests for Down syndrome. A discrete choice experiment was used to obtain participants' stated preference for prenatal tests that varied according to four attributes: accuracy, time of test, risk of miscarriage, and type of information. Pregnant women and health professionals were recruited from Canada, Denmark, Iceland, Israel, Italy, the Netherlands, Portugal, Singapore, and the United Kingdom. A total of 2666 women's and 1245 health professionals' questionnaires were included in the analysis. Differences in preferences were seen between women and health professionals within and between countries. Overall, women placed greater emphasis on test safety and comprehensive information than health professionals, who emphasised accuracy and early testing. Differences between women's and health professionals' preferences are marked between countries. Varied approaches to implementation and service delivery are therefore needed and individual countries should develop guidelines appropriate for their own social and screening contexts.


Asunto(s)
Síndrome de Down/diagnóstico , Conocimientos, Actitudes y Práctica en Salud , Personal de Salud/psicología , Mujeres Embarazadas/psicología , Diagnóstico Prenatal/psicología , Canadá , Síndrome de Down/genética , Unión Europea , Femenino , Pruebas Genéticas/ética , Humanos , Israel , Masculino , Embarazo , Singapur
8.
Am J Med Genet A ; 167A(1): 80-5, 2015 Jan.
Artículo en Inglés | MEDLINE | ID: mdl-25338954

RESUMEN

The aim of this study was to characterize the fetal phenotype of a cohort of individuals with confirmed diagnoses of Prader-Willi syndrome (PWS), a severe multi-system genetic disorder, diagnosed by a specific methylation test. We interviewed mothers of 106 individuals with PWS to obtain information about the pregnancy of their affected child. For 47 pregnancies of children younger than 10 years, we also reviewed the obstetric ultrasound and detailed obstetric history from medical records. We compared the PWS pregnancies with those of the sibling closest in age and with the general population. McNemars, Chi-square and Fisher exact tests were used for statistical analyses. Decreased fetal movements, small for gestational age (SGA), asymmetrical intrauterine growth (increased head/abdomen circumferences ratio) and polyhydramnios were found in 88%, 65%, 43%, and 34%, respectively (P < 0.001 vs. siblings and P < 0.0001 vs. the general population for all measurements). No severe morphological abnormalities were found. A combination of 2, 3, and 4 abnormalities was found in 27%, 29%, and 24% of pregnancies, respectively. Fourteen out of 15 umbilical artery Doppler studies were within the normal range (93%). The rare combination of asymmetrical intrauterine growth and polyhydramnios was found in 34% of PWS pregnancies (P < 0.0001 vs. the general population). Prenatal genetic screening for PWS by methylation testing is indicated when any combination of polyhydramnios, SGA or asymmetric intrauterine growth, with normal Doppler studies is present, particularly when asymmetrical intrauterine growth and polyhydramnios coexist.


Asunto(s)
Síndrome de Prader-Willi/diagnóstico , Diagnóstico Prenatal , Adolescente , Adulto , Niño , Preescolar , Femenino , Humanos , Embarazo , Adulto Joven
10.
Int J Gynaecol Obstet ; 121(2): 132-6, 2013 May.
Artículo en Inglés | MEDLINE | ID: mdl-23474018

RESUMEN

OBJECTIVE: To examine attitudes toward and use of complementary and alternative medicine (CAM) by obstetricians during pregnancy and childbirth. METHODS: Between 2010 and 2011, obstetricians from 7 medical centers (n=170) in Israel completed questionnaires examining the use and recommendation of CAM treatments during pregnancy and childbirth. Attitudes were examined via the CAM Health Belief Questionnaire (CHBQ). RESULTS: Over half of the participants (58.8%) reported using at least 1 CAM treatment, and nearly two-thirds had recommended or would recommend CAM to pregnant patients. By contrast, use of CAM during childbirth was recommended by only 26% of respondents. The total CHBQ score was moderately high (mean ± SD, 40.4 ± 7.30; possible range, 7.0-70.0), indicating an overall positive attitude toward CAM. Female board-certified specialists answered more favorably regarding attitudes toward CAM (P=0.004). The structural validity of the CHBQ was examined using varimax rotation factor analysis, which produced a 3-factor solution explaining 63.1% of the variance. CONCLUSIONS: Most obstetricians exhibited positive attitudes toward CAM and recommended its use during pregnancy, but did not support CAM use during childbirth. This discrepancy might be partly due to the involvement of Israeli obstetricians in predominantly high-risk cases of childbirth requiring intervention.


Asunto(s)
Actitud del Personal de Salud , Terapias Complementarias , Parto Obstétrico/métodos , Obstetricia/estadística & datos numéricos , Adulto , Análisis Factorial , Femenino , Encuestas de Atención de la Salud , Humanos , Israel , Masculino , Persona de Mediana Edad , Embarazo , Embarazo de Alto Riesgo , Factores Sexuales , Encuestas y Cuestionarios , Adulto Joven
11.
Arch Gynecol Obstet ; 288(1): 33-9, 2013 Jul.
Artículo en Inglés | MEDLINE | ID: mdl-23389248

RESUMEN

OBJECTIVE: Varix of the fetal intra-abdominal umbilical vein (VFIUV) has been reported to be associated with an increased risk of adverse perinatal outcome and especially with intra-uterine fetal demise (IUFD). Induction of preterm birth, as early as 32-34 weeks gestation has been suggested to minimize this risk. We aimed to evaluate our center experience with the antenatal diagnosis of VFIUV and review the relevant literature. METHODS: This is a retrospective case series of all cases (between 2004 and 2009) where the sonographic antenatal diagnosis of VFIUV was registered at any gestational age (GA). Ultrasound, maternal and newborn electronic medical records were used. Descriptive statistics were employed as appropriated and correlation coefficient (r) calculated. RESULTS: We identified 24 women with fetuses, with isolated VFIUV (excluding one lost-to-follow-up). GA at diagnosis was 30.5 ± 4.4 weeks; 13 (56.5 %) cases were diagnosed <32 weeks. The mean VFIUV diameter was 13 ± 2.9 (range 9-20) mm and turbulent flow was reported in 7 cases (30.4 %). GA at birth was 37 ± 2.5 weeks. The small for gestational age rate was 4 % (1/23), while no case of IUFD occurred. The group induction of labor rate was 65.2 %, while 43 % (10/23) due to the diagnosis of VFIUV alone: 17 % (4/23) preterm and 26 % (6/23) at term. The cesarean rate was 17 % (4/23) and NICU admission was required for five neonates (21.7 %). The preterm induction of birth was related to a significantly increased risk for cesarean and neonatal morbidity (p = 0.015; p = 0.029, respectively). The mode of delivery was not associated with the GA at diagnosis, size/type of flow of VFIUV (r = 0.101; r = 0.727; r = 0.671, respectively) overall (r) = 0.4. All fetuses were live-born with normal follow-up at 2-60 months. CONCLUSION: Isolated VFIUV has a favorable perinatal outcome at term, unrelated to the structural and flow characteristics of VFIUV. We show that follow-up for growth abnormalities with no preterm induction of birth is a safe maternal and neonatal approach.


Asunto(s)
Enfermedades Fetales/diagnóstico por imagen , Venas Umbilicales/anomalías , Várices/diagnóstico por imagen , Adulto , Peso al Nacer , Cesárea , Femenino , Edad Gestacional , Humanos , Cuidado Intensivo Neonatal , Trabajo de Parto Inducido , Nacimiento Vivo , Embarazo , Nacimiento Prematuro/etiología , Estudios Retrospectivos , Nacimiento a Término , Ultrasonografía , Várices/complicaciones , Adulto Joven
12.
J Ultrasound Med ; 32(3): 541-4, 2013 Mar.
Artículo en Inglés | MEDLINE | ID: mdl-23443196

RESUMEN

The purpose of this series was to report on the observation of an anomalous course of the umbilical artery. Ten cases in a 25-month period are reported. An omega-shaped variant, coined the "omega sign," of one of two umbilical arteries or of a single umbilical artery was observed. In 2 cases, there were two umbilical arteries, one of them with the anomalous vessel. In 8 cases, the vessel was a single umbilical artery. In 1 case with a single umbilical artery and pericardial effusion, aneuploidy was found on amniocentesis. A second case was associated with multiple anomalies. A third case was associated with hypoplastic left heart syndrome. Seven cases with the omega sign as an isolated finding, with or without a single umbilical artery, had favorable outcomes. An omega-shaped variant of the umbilical artery is likely to be more common in cases of a single umbilical artery than in cases with two umbilical arteries. It is probably a normal variant when unassociated with additional sonographically detectable structural anomalies.


Asunto(s)
Anomalías Múltiples/diagnóstico por imagen , Anomalías Múltiples/embriología , Resultado del Embarazo , Ultrasonografía Prenatal/métodos , Arterias Umbilicales/anomalías , Arterias Umbilicales/diagnóstico por imagen , Femenino , Humanos , Masculino , Embarazo , Reproducibilidad de los Resultados , Sensibilidad y Especificidad
13.
Eur J Obstet Gynecol Reprod Biol ; 168(1): 49-53, 2013 May.
Artículo en Inglés | MEDLINE | ID: mdl-23312476

RESUMEN

OBJECTIVE: Dehydroepiandrosterone (DHEA) supplementation for poor responders may improve ovarian response and IVF treatment outcome. This study aimed to determine the mechanism of action of DHEA, and specifically, the stage of folliculogenesis influenced by DHEA. STUDY DESIGN: This is a prospective, self-controlled study of poor responders to IVF treatment, comparing day 3 biochemical (anti-Mullerian hormone (AMH), inhibin B and FSH) and ultrasound (antral follicle count (AFC)) ovarian reserve markers and IVF treatment outcome before and after DHEA supplementation of at least 3 months duration. RESULTS: Thirty-two women were included. Following DHEA, there was a significant increase in AFC (P=0.0003) without significant changes in the baseline biochemical parameters AMH, inhibin B, or FSH. The enhanced response comprised increased peak estradiol levels (P=0.0005), number of follicles >15 mm, oocytes, MII oocytes and embryos (P=0.004, P=0.00001, P=0.0004 and P=0.0006, respectively) and oocytes number/total FSH dose (P=0.0009). The proportion of cancelled cycles due to very poor response decreased significantly (P=0.02). CONCLUSIONS: DHEA does not appear to exert influence via recruitment of pre-antral or very small antral follicles (no change in AMH and inhibin B) but rather by rescue from atresia of small antral follicles (increased AFC).


Asunto(s)
Deshidroepiandrosterona/uso terapéutico , Folículo Ovárico/efectos de los fármacos , Inducción de la Ovulación/métodos , Adulto , Hormona Antimülleriana/sangre , Femenino , Fertilización In Vitro , Hormona Folículo Estimulante/sangre , Humanos , Inhibinas/sangre , Folículo Ovárico/diagnóstico por imagen , Estudios Prospectivos , Ultrasonografía
15.
Hum Reprod ; 25(10): 2629-36, 2010 Oct.
Artículo en Inglés | MEDLINE | ID: mdl-20713414

RESUMEN

BACKGROUND: PGD for fragile X syndrome (FRAX) is inefficient, probably owing to fewer oocytes, poor embryo quality and difficulties in genetic analysis. We investigated IVF-PGD in FRAX mutation carriers compared with controls, looking at the effects of oocyte and embryo number/quality on live birth outcome. METHODS: We performed IVF-PGD in 27 patients with the FRAX mutation and 33 controls with other genetic diseases. Genetic testing was by multiplex PCR. RESULTS: Seventy-nine and 108 IVF-PGD cycles were started in FRAX mutation carriers and controls, respectively. Twenty-two patients had a premutation (CGG repeat number 60-200) and five had a full mutation (300-2000 CGG repeats). FRAX patients required higher doses of gonadotrophins (6788 ± 2379 versus 4360 ± 2330, P< 0.001) but had lower peak serum estradiol levels (8166 ± 5880 versus 10 211 ± 4673, P = 0.03) and fewer oocytes retrieved (9.8 ± 6 versus 14 ± 8, P = 0.01). The cancellation rate (unsatisfactory ovarian response) was higher in the FRAX group than in the control group (13 versus 1%, P < 0.001). When embryos were transferred, ongoing pregnancy/live birth rates per transfer were similar (29 versus 36%, P = 0.54). CONCLUSIONS: Ovarian dysfunction in FRAX carriers is more prevalent and profound than previously appreciated, with a high cancelation rate and reduced efficiency of PGD. The main determinant for successful PGD for FRAX is ovarian dysfunction. When embryo transfer is possible, the results are comparable to PGD for other monogenic diseases.


Asunto(s)
Síndrome del Cromosoma X Frágil/diagnóstico , Síndrome del Cromosoma X Frágil/genética , Ovario , Diagnóstico Preimplantación/métodos , Adulto , Gonadotropina Coriónica/uso terapéutico , Estudios de Cohortes , Estradiol/sangre , Femenino , Fármacos para la Fertilidad Femenina/uso terapéutico , Fertilización In Vitro/métodos , Humanos , Recién Nacido , Nacimiento Vivo/genética , Masculino , Mutación , Recuperación del Oocito , Inducción de la Ovulación/métodos , Embarazo , Índice de Embarazo , Sensibilidad y Especificidad
16.
Eur J Hum Genet ; 18(10): 1100-6, 2010 Oct.
Artículo en Inglés | MEDLINE | ID: mdl-20512159

RESUMEN

Warburg Micro Syndrome is a rare, autosomal recessive syndrome characterized by microcephaly, microphthalmia, microcornia, congenital cataracts, optic atrophy, cortical dysplasia, in particular corpus callosum hypoplasia, severe mental retardation, spastic diplegia, and hypogonadism. We have found five new mutations in the RAB3GAP1 gene in seven patients with suspected Micro Syndrome from families with Turkish, Palestinian, Danish, and Guatemalan backgrounds. A thorough clinical investigation of the patients has allowed the delineation of symptoms that are consistently present in the patients and may aid the differential diagnosis of Micro Syndrome for patients in the future. All patients had postnatal microcephaly, micropthalmia, microcornia, bilateral congenital cataracts, short palpebral fissures, optic atrophy, severe mental retardation, and congenital hypotonia with subsequent spasticity. Only one patient had microcephaly at birth, highlighting the fact that congenital microcephaly is not a consistent feature of Micro syndrome. Analysis of the brain magnetic resonance imagings (MRIs) revealed a consistent pattern of polymicrogyria in the frontal and parietal lobes, wide sylvian fissures, a thin hypoplastic corpus callosum, and increased subdural spaces. All patients were homozygous for the mutations detected and all mutations were predicted to result in a truncated RAB3GAP1 protein. The analysis of nine polymorphic markers flanking the RAB3GAP1 gene showed that the mutation c.1410C>A (p.Tyr470X), for which a Danish patient was homozygous, occurred on a haplotype that is shared by the unrelated heterozygous parents of the patient. This suggests a possible founder effect for this mutation in the Danish population.


Asunto(s)
Encéfalo/patología , Mutación , Proteínas de Unión al GTP rab3/genética , Anomalías Múltiples/genética , Anomalías Múltiples/patología , Árabes , Encéfalo/anomalías , Encéfalo/fisiopatología , Catarata/congénito , Catarata/genética , Catarata/patología , Cromosomas Humanos Par 2/genética , Córnea/anomalías , Córnea/patología , Dinamarca , Efecto Fundador , Marcadores Genéticos , Predisposición Genética a la Enfermedad , Guatemala , Humanos , Hipogonadismo/genética , Hipogonadismo/patología , Discapacidad Intelectual/genética , Discapacidad Intelectual/patología , Imagen por Resonancia Magnética , Microcefalia/genética , Microcefalia/patología , Atrofia Óptica/genética , Atrofia Óptica/patología , Turquía
17.
Med Decis Making ; 30(4): 518-22, 2010.
Artículo en Inglés | MEDLINE | ID: mdl-20228283

RESUMEN

BACKGROUND: The authors investigated whether obstetricians make different decisions about a medical test case depending on the characteristics of background cases that preceded the test case. METHODS: Five hypothetical cases were sent to 1247 obstetricians. The outcome of interest was the proportion of physicians who elect to perform a cesarean on a borderline test case, presented with 4 background cases. Participants were randomly assigned to 1 of 3 conditions: 1) pathological background, in which the test case was preceded by abnormal cases, typically requiring cesarean; 2) physiological background, where the test case was preceded by relatively uncomplicated cases, often suggesting a less invasive treatment; and 3) control, where the test case appeared first. RESULTS: A significantly higher proportion of respondents chose a cesarean when the test case was preceded by physiological cases (75.4%) than when it was preceded by pathological cases (52.2%). This tendency was observed among those actively and not actively involved in obstetrics and in physicians with different levels of training. CONCLUSIONS: A patient's chances of undergoing cesarean section can be influenced by the immediately prior experience of the physician. This study with hypothetical vignettes found that background cases can influence physicians' decisions. The test case was apparently perceived as more grave when it followed uncomplicated cases as compared to when it was preceded by abnormal cases. Such inconsistencies in decision making are unlikely to be fully resolved by expertise, as suggested by the lack of differences between physicians with different training levels. An understanding of such effects may contribute to more informed consideration of unappreciated influences in making decisions.


Asunto(s)
Toma de Decisiones , Parto Obstétrico , Médicos/psicología , Humanos , Encuestas y Cuestionarios
18.
Horm Res ; 72(3): 153-9, 2009.
Artículo en Inglés | MEDLINE | ID: mdl-19729946

RESUMEN

BACKGROUND/AIMS: To investigate the etiology of hypogonadism in women with Prader-Willi Syndrome (PWS). METHODS: Ten women aged 23 +/- 5.5 years with PWS and 10 age- and BMI-matched controls were included. Blood samples were drawn and abdominal ultrasounds were performed on days 2-4 of spontaneous cycles or at random from amenorrheic women. Anti-Mullerian hormone (AMH), inhibin B (INB), gonadotropins, sex steroids, TSH, prolactin, ovarian volume and antral follicle count (AFC) in PWS women were compared with results from controls and the reference ranges. RESULTS: Compared to controls, PWS women had lower INB (mean +/- SD = 17.6 +/- 12.8 pg/ml vs. 110.6 +/- 54.5; p = 0.0002) and AMH levels (1.18 +/- 0.86 ng/ml vs. 3.53 +/- 2.42; p = 0.01). INB levels were exceptionally low in all PWS women, but individual AMH levels overlapped with the levels in the controls. Ovarian volume (mean +/- SD = 3.7 +/- 2.3 ml vs. 30.5 +/- 28.8; p = 0.03) and AFC (6.4 +/- 6.9 vs. 14.0 +/- 8.2; p = 0.01) were lower in the PWS group compared to the controls. Three PWS patients had abnormally high follicle-stimulating hormone levels, while only 1 had hypogonadotropic hypogonadism. CONCLUSIONS: Our results suggest a unique follicular stage-specific insult in women with PWS. Thus, primary ovarian dysfunction is a major component of hypogonadism in PWS.


Asunto(s)
Hipogonadismo/etiología , Enfermedades del Ovario/complicaciones , Síndrome de Prader-Willi/fisiopatología , Adolescente , Adulto , Andrógenos/sangre , Hormona Antimülleriana/sangre , Femenino , Hormona Folículo Estimulante/sangre , Humanos , Hipotálamo/fisiopatología , Inhibinas/sangre , Ovario/diagnóstico por imagen , Hipófisis/fisiopatología , Estudios Prospectivos , Ultrasonografía , Útero/diagnóstico por imagen
19.
J Urol ; 182(4 Suppl): 1845-8, 2009 Oct.
Artículo en Inglés | MEDLINE | ID: mdl-19692031

RESUMEN

PURPOSE: We evaluated whether improved renal function after pyeloplasty for prenatal ureteropelvic junction obstruction persisted through puberty. MATERIALS AND METHODS: A total of 441 males and 137 females with a prenatal diagnosis of hydronephrosis that led to the postnatal diagnosis of ureteropelvic junction obstruction were followed at our department from 1989 to 2008. Of the patients we reviewed the records of 49 who underwent surgery between 1989 and 1992, and completed puberty. Hydronephrosis was on the right side in 18 children (36.7%) and on the left side in 31 (63.3%). According to Society for Fetal Urology classification at first presentation postnatal hydronephrosis was grades 2 to 4 in 18 (36.7%), 23 (46.9%) and 8 children (16.3%), respectively. Initially relative renal function was more than 40% in 18 children (36.7%), between 30% and 40% in 24 (49%), and less than 30% in 7 (14.3%). Preoperatively mean +/- SEM relative renal function was 36.6% +/- 7.8% in all reviewed patients. RESULTS: Improvement in hydronephrosis was confirmed in all patients. This remained stable during and after puberty in all except 2 patients, who required endopyelotomy 8 and 10 years following pyeloplasty, respectively, due to deterioration in hydronephrosis without a decrease in relative renal function. They showed improvement in the washout curve pattern after the procedure. Pyeloplasty led to increased relative renal function in the short term from 36.7% +/- 1.2% before surgery to 41.2% +/- 0.91% in all patients (p <0.001). It remained stable at 43.2% +/- 0.75% after puberty in all reviewed patients. CONCLUSIONS: To our knowledge our data show for the first time that successful pyeloplasty after the prenatal diagnosis of ureteropelvic junction obstruction is associated with improved renal function throughout puberty.


Asunto(s)
Hidronefrosis/cirugía , Pelvis Renal , Riñón/fisiología , Obstrucción Ureteral/cirugía , Adolescente , Niño , Femenino , Humanos , Hidronefrosis/diagnóstico por imagen , Hidronefrosis/etiología , Lactante , Pruebas de Función Renal , Masculino , Ultrasonografía Prenatal , Obstrucción Ureteral/complicaciones
20.
J Pediatr Urol ; 4(3): 188-91, 2008 Jun.
Artículo en Inglés | MEDLINE | ID: mdl-18631923

RESUMEN

AIM: We have retrospectively evaluated our 17 years of experience with antenatal diagnosis of hydronephrosis that led to postnatal diagnosis of megaureter, and tried to determine criteria for surgery. PATIENTS AND METHODS: Seventy-nine children (64 boys and 15 girls) with antenatal diagnosis of hydronephrosis that led to postnatal diagnosis of megaureter were followed conservatively over a period of 18 years (1988-2006). Right ureterohydronephrosis was seen in 23 children, left in 30 and 26 had bilateral ureterohydronephrosis comprising a total of 105 renal units (RU). According to SFU (Society for Fetal Urology) classification, 8 RU were grade 1, 57 grade 2, 29 grade 3 and 11 grade 4 postnatal hydronephrosis. Mean ureteral diameter was 1.2 cm. Relative renal function was in 82 RU more than 40%, in 18 RU 30-40% and in 5 RU less than 30%. Functional deterioration of the hydronephrotic kidney of more than 5%, worsening of hydronephrosis (SFU upgrade) and a persistent obstructive curve on radionuclide scans were the main indications for surgery. RESULTS: Twenty-five (31%) children required surgical correction. Mean age at surgery was 14.3 months (range 3-60). Univariate analysis revealed that gender and side of obstruction are not significant predictive factors for surgery SFU grade 3-4 of postnatal hydronephrosis, Relative renal function less than 30% and ureteral diameter more than 1.33 cm were significant independent risk factors leading to reimplantation. CONCLUSIONS: Only 30% of children with antenatal diagnosis of megaureter required surgical correction. Renal function less than 30%, grades 3 and 4 hydronephrosis, and ureteric diameter more than 1.33 cm are statistically significant and independent predictive factors for surgery.


Asunto(s)
Ultrasonografía Prenatal/métodos , Uréter/anomalías , Ureterocele/diagnóstico , Preescolar , Diagnóstico Diferencial , Progresión de la Enfermedad , Femenino , Humanos , Hidronefrosis/diagnóstico , Hidronefrosis/etiología , Lactante , Recién Nacido , Riñón/diagnóstico por imagen , Masculino , Embarazo , Pronóstico , Cintigrafía , Uréter/diagnóstico por imagen , Ureterocele/complicaciones , Ureterocele/congénito
SELECCIÓN DE REFERENCIAS
DETALLE DE LA BÚSQUEDA
...