RESUMEN
Congenital brain tumors are rare and, whether diagnosed prenatally or postnatally, the most frequent type is teratoma. Prenatal diagnosis relies on sonography and magnetic resonance imaging, and is usually achieved during the second or third trimester. We report a case of an intracranial tumor diagnosed in the early second trimester. The diagnosis had been suspected at first-trimester routine sonography, which showed a compressive intracranial mass with mild vascularization. Because of the poor prognosis, termination of pregnancy was discussed with the parents and was carried out at 14 weeks of gestation. Postmortem examination provided a diagnosis of right frontal immature teratoma.
Asunto(s)
Neoplasias Encefálicas/diagnóstico por imagen , Enfermedades Fetales/diagnóstico por imagen , Hidrocefalia/diagnóstico por imagen , Teratoma/diagnóstico por imagen , Aborto Eugénico , Adulto , Neoplasias Encefálicas/congénito , Diagnóstico Precoz , Femenino , Humanos , Embarazo , Segundo Trimestre del Embarazo , Teratoma/congénito , Ultrasonografía PrenatalRESUMEN
A neuroblastoma that develops in the sympathetic nodes can infiltrate the intervertebral foramina and invade the spinal canal, leading to spinal cord and nerve root compression and neurological impairment. Dumbbell neuroblastomas are now considered to be unresectable tumors and preoperative chemotherapy is recommended. We report the prenatal diagnosis of a dumbbell neuroblastoma successfully managed through premature delivery followed by immediate chemotherapy. We suggest that delivering prematurely in such cases is only of benefit if chemotherapy can be administered under favorable conditions. Chemotherapy should proceed immediately after delivery in order to reduce the size of the tumoral mass and its effects on the spine.
Asunto(s)
Enfermedades Fetales/diagnóstico , Neuroblastoma/diagnóstico , Compresión de la Médula Espinal/etiología , Neoplasias de la Médula Espinal/diagnóstico , Aborto Inducido/métodos , Adulto , Protocolos de Quimioterapia Combinada Antineoplásica/administración & dosificación , Cesárea , Ciclofosfamida/administración & dosificación , Femenino , Enfermedades Fetales/tratamiento farmacológico , Enfermedades Fetales/cirugía , Humanos , Recién Nacido , Metilprednisolona/administración & dosificación , Neuroblastoma/tratamiento farmacológico , Neuroblastoma/cirugía , Embarazo , Diagnóstico Prenatal/métodos , Neoplasias de la Médula Espinal/tratamiento farmacológico , Neoplasias de la Médula Espinal/cirugía , Vincristina/administración & dosificaciónRESUMEN
Type II lissencephaly (type II LIS) is a group of autosomal recessive congenital muscular dystrophies (CMD) associated with defects in alpha-DG O-glycosylation, which comprises Walker-Warburg syndrome, Fukuyama cerebral and muscular dystrophy, or muscle-eye-brain disease. The most severe forms of these diseases often have a fetal presentation and lead to a pregnancy termination. We report here the first molecular study on fetal type II LIS in a series of 47 fetuses from 41 unrelated families. Sequencing of the different genes known to be involved in alpha-DG O-glycosylation allowed the molecular diagnosis in 22 families: involvement of POMT1 was demonstrated in 32% of cases, whereas POMGNT1 and POMT2 were incriminated in 15% and in 7% of cases, respectively. We found 30 different mutations in these three genes, 25 were described herein for the first time, 15 in POMT1, and five in POMT2 and POMGNT1. Despite sequencing of FKRP, FCMD, and LARGE, no definitive molecular diagnosis could be made for the other half of our cases. Preliminary results concerning genotype-phenotype correlations show that the choice of the first gene sequenced should depend on the clinical severity of the type II LIS; POMT1 and POMT2 for severest clinical picture and POMGNT1 for milder disease. The other genes, FKRP, FCMD, and LARGE, seem not to be implicated in the fetal form of CMD.
Asunto(s)
Regulación de la Expresión Génica , Distrofias Musculares/embriología , Distrofias Musculares/genética , Alelos , Distroglicanos/metabolismo , Femenino , Genotipo , Edad Gestacional , Humanos , Masculino , Manosiltransferasas/genética , Repeticiones de Microsatélite , Modelos Genéticos , Mutación , Fenotipo , Polimorfismo de Nucleótido SimpleAsunto(s)
Acrocefalosindactilia/complicaciones , Acrocefalosindactilia/genética , Proteínas Tirosina Quinasas Receptoras/genética , Receptores de Factores de Crecimiento de Fibroblastos/genética , Columna Vertebral/anomalías , Tráquea/anomalías , Humanos , Mutación , Diagnóstico Prenatal , Receptor Tipo 2 de Factor de Crecimiento de FibroblastosRESUMEN
BACKGROUND: We sought to determine the benefits of using alkalinized lidocaine 40 mg to fill the cuff of a tracheal tube (ETT) in combination with water-soluble gel lubrication to prevent post-intubation sore throat. METHODS: The work included an in vitro study of the diffusion of alkalinized lidocaine solution through the low-pressure, high-volume cuff of an ETT. We also performed a randomized controlled study (n=20 patients in each group) that included a group who received an alkalinized lidocaine-filled ETT cuff with lubrication of the tube using water-soluble gel (Group G), and two control groups who received an alkalinized lidocaine-filled cuff with ETT lubrication with water (Group W) or an air-filled cuff with ETT lubrication with water (Group C). RESULTS: Water-soluble gel lubrication (Group G) produced a lower incidence of sore throat during the 24-h post-extubation period than lubrication with water alone in the cuffs filled with alkalinized lidocaine (Group W), and compared with the air control group. The ability of lidocaine to pass through the cuff of an ETT when water-soluble gel and/or water alone was used as a lubricant was similar, as determined by lidocaine plasma concentrations (C(max) 45 ng x ml(-1)). Cough and restlessness before tracheal extubation were decreased in patients with the alkalinized lidocaine-filled cuffs compared with the air-filled cuffs. After extubation, nausea, vomiting, dysphonia and hoarseness were greater for patients with air-filled cuffs compared with the lidocaine-filled cuffs. No significant difference between the groups was recorded in arterial blood pressure and heart rate. In vitro data suggest that the lower the NaHCO(3) injection volume, the greater the release of lidocaine across a low-pressure, high-volume cuff. CONCLUSIONS: These data show benefits of using an alkalinized lidocaine-filled ETT cuff in combination with water-soluble gel lubrication in preventing post-intubation sore throat.
Asunto(s)
Anestésicos Locales/administración & dosificación , Intubación Intratraqueal/efectos adversos , Lidocaína/administración & dosificación , Faringitis/prevención & control , Complicaciones Posoperatorias/prevención & control , Adulto , Periodo de Recuperación de la Anestesia , Anestesia General , Anestésicos Locales/sangre , Anestésicos Locales/química , Femenino , Geles , Humanos , Concentración de Iones de Hidrógeno , Lidocaína/sangre , Lidocaína/química , Lubrificación , Masculino , Persona de Mediana Edad , Faringitis/etiología , Bicarbonato de Sodio , SolubilidadRESUMEN
OBJECTIVE: To describe the prenatal management and outcome of a series of 66 fetuses with supraventricular tachycardia (SVT). MATERIAL AND METHODS: The perinatal data of 66 fetuses with SVT were retrospectively studied from January 1990 to December 2000. Junctional tachycardia was found in 50 fetuses and atrial flutter was found in 16 fetuses. Two groups were studied depending on the absence (n=40) or the presence of hydrops (n=26) at the time of the diagnosis. All fetuses but one were treated prenatally via the mother. Anti-arrhythmic drugs used were: digoxin, sotalol, flecainide or amiodarone. RESULTS: Group of fetuses with no hydrops: digoxin was used in 32 cases and allowed 26 fetuses to be converted to sinus rhythm (80%). One intra uterine death (IUD) occurred in this group. Hydropic fetuses group: nine fetuses were converted to sinus rhythm using either flecainide (n=7) or amiodarone (n=2) as first line therapy, whilst digoxin alone or in association with sotalol failed to restore sinus rhythm in all cases. After first line therapy, SVT persisted in 10 fetuses. Nine fetuses received amiodarone alone or in association with digoxin as second line therapy, five of whom were converted to sinus rhythm. Among the 18 alive neonates treated by amiodarone in utero, three presented elevated thyroid stimulating hormone at day 3-4 and required thyroid hormonal substitution therapy for 2-6 months with normal outcome.
Asunto(s)
Antiarrítmicos/uso terapéutico , Enfermedades Fetales/tratamiento farmacológico , Atención Prenatal/métodos , Taquicardia Supraventricular/tratamiento farmacológico , Amiodarona/uso terapéutico , Aleteo Atrial/tratamiento farmacológico , Protocolos Clínicos , Digoxina/uso terapéutico , Ecocardiografía , Femenino , Enfermedades Fetales/diagnóstico , Flecainida/uso terapéutico , Edad Gestacional , Frecuencia Cardíaca Fetal , Humanos , Hidropesía Fetal/etiología , Recién Nacido , Embarazo , Resultado del Embarazo , Estudios Retrospectivos , Sotalol/uso terapéutico , Taquicardia Ectópica de Unión/tratamiento farmacológico , Taquicardia Supraventricular/complicaciones , Taquicardia Supraventricular/diagnóstico , Resultado del Tratamiento , Ultrasonografía PrenatalRESUMEN
OBJECTIVE: Craniosynostosis is defined as the premature closure of the calvarial sutures. The prevalence of this heterogeneous condition is 1 in 2000 and approximately 100 different forms have been described with an established genetic transmission in half of them. Prenatal diagnosis of craniosynostosis relies mainly on identification of associated anomalies and molecular analysis of fetal DNA, which is only feasible in some syndromic forms and in well-documented families. The objective of this study was to investigate the value of prenatal ultrasound examination of cranial sutures in fetuses at risk for craniosynostosis. METHODS: Forty fetuses at risk for craniosynostosis on the basis of either a family history (Group 1, n = 16) or skull deformity suspected on a first-level fetal ultrasound examination (Group 2, n = 24) were retrospectively investigated. Craniosynostosis was suspected on the basis of skull deformities when present, however the diagnosis was only made in cases where there was a loss of hypoechogenicity of the normal sutures. All infants had both clinical and radiological investigations performed postnatally. RESULTS: In Group 1, serial ultrasound examination from 12 weeks' gestation onwards led to accurate prenatal diagnosis in all 16 cases. Dysmorphism and skull deformity preceded closure of the sutures by 4 to 16 weeks. In Group 2, prenatal diagnosis was correct in 23/24 cases. There were no false-negative results in either group. CONCLUSIONS: This series questions further the uncertain genetic determinism of craniosynostosis and seems to rule out the hypothesis of a deformation sequence following primary closure of the cranial sutures. It also suggests that ultrasound examination is useful to demonstrate closure of the sutures in the third trimester of pregnancy in most affected cases.
Asunto(s)
Craneosinostosis/diagnóstico por imagen , Ultrasonografía Prenatal/métodos , Craneosinostosis/genética , Femenino , Humanos , Linaje , Embarazo , Trimestres del Embarazo , Recurrencia , Estudios Retrospectivos , Factores de RiesgoRESUMEN
BACKGROUND: The mechanism behind indomethacin-induced cerebral vasoconstriction is incompletely understood. We tested the hypothesis that the mixed endothelin-1 receptor antagonist bosentan would modify or prevent indomethacin-induced reduction of CBF in the anaesthetized pig. Furthermore, we investigated the effect of bosentan on resting CBF and CMRO2. METHODS: Twelve pigs were randomized in two groups of six, and received either bosentan and indomethacin (group 1), or placebo and indomethacin (group 2). Anaesthesia was induced with ketamine and midazolam and maintained with fentanyl, nitrous oxide and pancuronium. Baseline measurements of CBF and CMRO2 were performed before intravenous bolus injection of bosentan (10 mg/kg) or placebo (0.9% NaCl). The second CBF and CMRO2 measurement was performed 30 min after administration of bosentan/placebo. A 40-min infusion of indomethacin (0.05 mg/kg/min) was administered and the third CBF and CMRO2 measurement was performed 80 min after administration of bosentan/placebo. Independently, pharmacokinetic data of bosentan were generated in four pigs. RESULTS: In group 1, baseline CBF was 55 +/- 7 ml/100 cm3/min. Administration of bosentan i.v. did not change CBF significantly. Indomethacin decreased CBF to 41 +/- 5 ml/100 cm3/min (P < 0.002). In group 2, baseline CBF was 54 +/- 10 ml/100 cm3/min. Placebo did not change CBF while indomethacin decreased CBF significantly to 41 +/- 5 ml/100 cm3/min (P < 0.002). No significant changes in CMRO2 were observed. In group 2, a significant increase in MABP was observed after administration of indomethacin. No change in MABP was observed in the bosentan-treated animals. Total plasma concentrations of bosentan at the time of the first and the second PET measurement were 3.9 and 1.4 microg/ml, respectively. The corresponding values for the pharmacologically active metabolite Ro 48-5033 were 1.2 and 0.4 microg/ml. CONCLUSION: These findings indicate that endothelin receptor stimulation is not involved in indomethacin-induced cerebral vasoconstriction or maintenance of cerebrovascular tone in the anaesthetized pig. However, our results suggest that the increase in MABP is mediated through endothelin receptors.