RESUMEN
BACKGROUND: Toxoplasmosis is a parasitic infection caused by Toxoplasma gondii and is responsible for gestational and congenital infections worldwide. The current standard therapy is based on the administration of Spiramycin to prevent trans-placental transmission. Other therapies are being studied to reduce the rates of foetal transmission and symptomatic congenital infection. OBJECTIVES: We report our long-standing experience in maternal toxoplasmosis infection treatment using a combination of Spiramycin-Cotrimoxazole, assessing its effectiveness in preventing vertical transmission compared to the expected incidence of congenital infection. METHODS: We retrospectively collected cases of pregnant women referred to our centre for suspected toxoplasmosis infection according to Lebech criteria, treated with Spiramycin-Cotrimoxazole. RESULTS: Of 1364 women referred to our centre, postnatal follow-up of primary toxoplasmosis was available in 562 cases (73.9%). The overall vertical transmission rate was 3.4% in women treated immediately with Spiramycin-Cotrimoxazole after the diagnosis of infection. In comparison, it was 7.7% in women undergoing the same therapy but late or with poor compliance. The foetal transmission rate was 71.4% in untreated cases. All the infected newborns of mother treated adequately with Spiramycin-Cotrimoxazole were asymptomatic afterbirth, while 6/21 infected infants of the inadequate Spiramycin-Cotrimoxazole therapy group had postnatal sequelae (28.5%). The incidence of transmission after appropriate Spiramycin-Cotrimoxazole therapy was significantly lower than the expected rate reported in literature. CONCLUSIONS: A combination of Spiramycin and Cotrimoxazole is safe and effective in preventing foetal congenital toxoplasmosis and reducing sequelae in case of in-utero infection. The timing and adherence to the therapy are crucial to lowering the risk of congenital infection and neonatal morbidity.
Asunto(s)
Transmisión Vertical de Enfermedad Infecciosa , Complicaciones Parasitarias del Embarazo , Espiramicina , Centros de Atención Terciaria , Toxoplasmosis Congénita , Combinación Trimetoprim y Sulfametoxazol , Humanos , Espiramicina/uso terapéutico , Femenino , Embarazo , Toxoplasmosis Congénita/prevención & control , Toxoplasmosis Congénita/tratamiento farmacológico , Toxoplasmosis Congénita/epidemiología , Transmisión Vertical de Enfermedad Infecciosa/prevención & control , Estudios Retrospectivos , Combinación Trimetoprim y Sulfametoxazol/uso terapéutico , Recién Nacido , Complicaciones Parasitarias del Embarazo/prevención & control , Complicaciones Parasitarias del Embarazo/tratamiento farmacológico , Complicaciones Parasitarias del Embarazo/epidemiología , Adulto , Quimioterapia Combinada , Antibacterianos/uso terapéutico , Toxoplasmosis/prevención & control , Toxoplasmosis/transmisión , Toxoplasmosis/tratamiento farmacológico , Toxoplasmosis/epidemiología , Antiprotozoarios/uso terapéuticoRESUMEN
BACKGROUND: There is weak evidence on the best treatment of pregnant women with Toxoplasma gondii infection to prevent the vertical transmission to the fetus. METHODS: We conducted a 28-year retrospective study aiming to compare the efficacy of three therapeutic regimens [Spiramicyn alone (Spy) vs. Pyrimethamine-Sulfadiazine (P/S) vs. Spiramicyn with Trimethoprim-Sulfamethoxazole (Spy+TMP-SMX)] for the prevention of mother-to-fetus transmission of T. gondii infection. RESULTS: 170 women were included: 58 (34.1%) had certain congenital toxoplasmosis (CT), 61 (35.9%) a probable infection and 41 (24.1%) possible infection. In total 97 mothers (57.1%) were treated with the Spy+TMP-SMX combination, 64 mothers (37.6%) were treated with Spy only and 8 mothers (4.7%) with P/S. Infected infants were 20/170 (11.7%). However, 8.2% (8/97) of infants born to mothers treated with Spy+TMP-SMX were infected, 20% (11/55) of infants born to women treated with Spy and 12.5% (1/8) of infants born to mothers treated with P/S were infected. Logistic regression analysis demonstrated that Spy treatment alone was associated with an increased risk of CT compared to the Spy+TMP-SMX combination (OR, 2.78, 95% CI 1.04-7.41, P value 0.041). No difference was observed when the Spy+TMP-SMX was compared with the P/S combination (OR 1.59; 95% CI 0.17 - 14.58; P value 0.682). Results were confirmed when the analyses were corrected by trimester of infection and by type of maternal treatment (OR 7.72; 95% CI 3.40-17.53, P value <0.001). CONCLUSIONS: The combination of Spy+TMP-SMX may be more effective in reducing the risk of maternal-fetal transmission of Toxoplasmosis compared to Spy alone; furthermore, this combination is not inferior to P/S, the current international standard-of-care maternal treatment for the prevention of CT. A prospective trial comparing the combination Spy+TMP-SMX with P/S would be necessary to provide definitive evidence on the best regimen for pregnant women with T. gondii infection.
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Toxoplasmosis Congénita , Toxoplasmosis , Femenino , Feto , Humanos , Lactante , Madres , Embarazo , Mujeres Embarazadas , Estudios Prospectivos , Estudios Retrospectivos , Toxoplasmosis/tratamiento farmacológico , Toxoplasmosis/prevención & control , Toxoplasmosis Congénita/tratamiento farmacológico , Combinación Trimetoprim y Sulfametoxazol/uso terapéuticoRESUMEN
Most vaccinations are recommended within the 15th month of life, in order to reduce risks and to protect children from the initial stages of their lives. A vaccination training session was carried out during the birthing preparation course, aimed at increasing the attitude toward vaccination in maternal-child age. A questionnaire on vaccination awareness was administered before and after the training session and on-site flu vaccination was offered to women and their companions. The percentage of participants who consider the preparatory course a useful tool to obtain information about vaccines increases significantly from 30.34% at pre-intervention to 64.56% at post-intervention (p < 0.001). There is a significant increase in the mean number of vaccinations that the participants want their children to get. The number of participants believing that there is no relationship between vaccination and autism rose from 41.05 to 72.97% (p < 0.001). In total, 48 out of 119 (40.34%) pregnant women participating in the course and 39 companions were vaccinated for influenza. Vaccination knowledge and attitude significantly increased after a training session dedicated to vaccination as a part of the pregnant pre-birth course, whose aim can be therefore extended to the management of the health of the child, well beyond the period of pregnancy, according to the life-course approach to health.
RESUMEN
BACKGROUND: No treatment is currently approved for cytomegalovirus infection in pregnancy. Valacyclovir has been studied in symptomatic cytomegalovirus infected fetuses and seems to reduce the risk of serious sequelae. OBJECTIVES: We used off-label valacyclovir on pregnant women with primary cytomegalovirus infection to reduce the risk of fetal infection. STUDY DESIGN: We treated 12 pregnant women with 8 g/day valacyclovir after diagnosis of cytomegalovirus infection until amniocentesis. We continued treatment until delivery in case of fetal infection. We periodically performed serology and virology tests on the women from referral until delivery and monitored them for adverse effects while on treatment. All women underwent late amniocentesis. We followed up infants for 5-28 months. RESULTS: At the time of amniocentesis, we observed a transmission rate of 17 %, and at birth we observed a transmission rate of 42 %. Two women with negative amniocentesis and infected newborns had viremia reactivation after valacyclovir discontinuation. We observed no symptomatic infections at birth and one isolated sensory-neural hearing loss at follow-up. CONCLUSIONS: This is the first series of antiviral treatment in women with a diagnosis of cytomegalovirus infection before amniocentesis. Valacyclovir may control cytomegalovirus infection while it is administered and reduce transmission at amniocentesis. Late transmission after treatment discontinuation is a risk. We advocate the need for a controlled trial of valacyclovir therapy starting from diagnosis of maternal infection until delivery, regardless of prenatal diagnosis of infection.
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Antivirales/administración & dosificación , Infecciones por Citomegalovirus/prevención & control , Transmisión Vertical de Enfermedad Infecciosa/prevención & control , Complicaciones Infecciosas del Embarazo/tratamiento farmacológico , Complicaciones Infecciosas del Embarazo/virología , Valaciclovir/administración & dosificación , Anticuerpos Antivirales/sangre , Antivirales/uso terapéutico , Preescolar , Infecciones por Citomegalovirus/tratamiento farmacológico , Infecciones por Citomegalovirus/transmisión , Femenino , Edad Gestacional , Humanos , Lactante , Embarazo , Atención Prenatal/métodos , Valaciclovir/uso terapéuticoRESUMEN
Thyroid carcinoma is the first cancer found in general population and the second diagnosed during pregnancy following the breast one. Diagnostic and therapeutic approaches to thyroid malignancy in pregnant women pose several and serious issues to the physicians. Even if there is no consensus about the surgical treatment of thyroid carcinomas during pregnancy, a large number of women undergo surgery over the world. The best surgical and anesthesiological treatment should be chosen after reaching a consensus between surgeons, anesthesiologists, obstetrics, and the patients. From 2000 to 2016, 18 pregnant patients underwent thyroidectomy under local anesthesia (cervical plexus block) combined with conscious sedation using benzodiazepines and opiates with ultrashort duration of action. Our 15-year experience on the thyroidectomies performed using the cervical plexus block combined with conscious sedation confirms that this combined technique offers a safe chance to defeat cancer also during pregnancy. Application of hypnosis could be an interesting alternative approach to pharmacological sedation in patients who would avoid intravenous drugs.
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Neoplasias de la Tiroides/cirugía , Tiroidectomía/métodos , Adulto , Biopsia con Aguja Fina , Sedación Consciente , Femenino , Humanos , Bloqueo Nervioso , Dimensión del Dolor , Embarazo , Segundo Trimestre del Embarazo , Factores de Riesgo , Resultado del TratamientoRESUMEN
INTRODUCTION: Megacystis is a condition of abnormal enlarged fetal bladder for gestational age, which is usually associated with urological malformations that may constitute a life-threatening condition for the baby. OBJECTIVE: The purpose of this study was to assess the prognostic and etiological criteria of fetal megacystis and to describe the neonatal outcome in a large series collected in a single tertiary center. STUDY DESIGN: A retrospective observational study was conducted between 2008 and 2012. We reviewed all consecutive cases of fetal megacystis diagnosed during routine ultrasound (US) screening. The following data were collected and analyzed: maternal age, gestational age at diagnosis, prenatal ultrasonographic details of the urinary system, extra-urinary ultrasonographic anomalies, fetal karyotype, pregnancy outcome, postnatal diagnosis, and medical/surgical follow-up. RESULTS: Of the 25 fetuses included in this study, 76% were males. The mean gestational age (GA) at diagnosis was 23.1 ± 7.5 weeks (range 12-34), among them only four (16%) were diagnosed during the first trimester. Associated urological malformations were detected in 92% (n = 23) of the cases, while other malformations were detected in 36% (n = 9). Oligohydramnios or anyhydramnios were observed in 52% (n = 13) of the cases. Twelve (48%) fetuses were considered as having poor prognosis for renal function. Vesicocentesis with or without vesico-amniotic infusion were performed in 28% (n = 7) of the cases. Pregnancy outcome was surprisingly good, with only one case of prenatal death and survival rate of 96% (n = 24) of liveborn babies. Posterior urethral valve (PUV) (n = 9, 36%) was the most common etiology of the fetal megacystis, followed by persistent urogenital sinus (n = 2, 8%), Prune belly syndrome (n = 2, 8%) and bilateral vescico-ureteral reflux (VUR) (n = 2, 8%). Surgical or endoscopic procedures were performed in 75% (n = 18) of the cases. Six (24%) newborns presented with moderate/severe respiratory distress that requested invasive assisted ventilation. Three cases (n = 3, 12%) of perinatal death were observed due to severe impaired renal function. After a median follow-up of 29 months renal function was good in 79% (n = 19) of the cases. CONCLUSIONS: Fetal megacystis may underline a wide range of associated pathologies with the highest prevalence of urinary malformation. Optimal counseling of the involved parents requires a multidisciplinary approach to allow the best management during the pregnancy and the perinatal period. Despite the high risk of renal failure, lung hypoplasia, and severe associated anomalies, the outcome of fetuses with megacystis could be improved thanks to an appropriate perinatal diagnosis and neonatal management.
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Duodeno/anomalías , Enfermedades Fetales/diagnóstico por imagen , Centros de Atención Terciaria , Ultrasonografía Prenatal , Vejiga Urinaria/anomalías , Duodeno/diagnóstico por imagen , Femenino , Enfermedades Fetales/etiología , Enfermedades Fetales/terapia , Humanos , Recién Nacido , Masculino , Embarazo , Pronóstico , Estudios Retrospectivos , Vejiga Urinaria/diagnóstico por imagenRESUMEN
Introduction Prenatal detection of isolated ascites is a rare finding on ultrasound, usually suggestive of an underlying pathology that may negatively impact on the pregnancy and neonatal outcome. The purpose of the present study was to evaluate the outcome of primary isolated ascites in relation to gestational age (GA) at diagnosis. Materials and Methods Data were prospectively collected for fetuses with ascites that have been followed in our center of prenatal diagnosis and therapy from 2004 to 2014. Patients have been divided in group I when ascites was detected before the 24th week of GA and group II if it was noticed later. Prenatal workup included detailed ultrasound, maternal blood group and presence of antibodies, maternal infection screening, fetal karyotyping, and if needed fetal paracentesis. Postnatal data included GA at birth, mode of delivery, weight at birth, neonatal and surgical outcome. Results During the study period, 51 fetuses were included. Among them, 28 in group I and 23 in group II. An associated anomaly was prenatally identified in 84% of the fetuses. Prenatal demise occurred only in patients belonging to group I for an overall incidence of 10%. An associated disease was confirmed after birth in 61% of cases in group I and in 74% in group II (p = ns). There was a higher incidence of gastrointestinal pathology in group II than in group I (47 vs. 10%, p = 0.004); with a significant prevalence of meconium peritonitis (32 vs. 4%, p = 0.016). Nine patients (17.6%) died after birth, all in group I, because of major systemic malformations. Overall, the postnatal outcome was good in 63% (n = 32) of the cases, and more than half of them belonged to group II (p = 0.003). Conclusion A wide range of etiologies have been found to be associated with isolated fetal ascites. A systematic diagnostic workup and multidisciplinary prenatal counseling can improve the accuracy of prenatal identification of associated pathologies. The early detection of fetal ascites, before the 24th week of GA, is associated with a significant risk of perinatal death; otherwise, a late diagnosis of fetal ascites is associated with an increased risk of gastrointestinal diseases, especially with meconium peritonitis.
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Ascitis/diagnóstico por imagen , Ascitis/etiología , Ultrasonografía Prenatal , Ascitis/mortalidad , Diagnóstico Precoz , Femenino , Estudios de Seguimiento , Edad Gestacional , Humanos , Recién Nacido , Masculino , Evaluación de Resultado en la Atención de Salud , Embarazo , Estudios Prospectivos , Centros de Atención TerciariaRESUMEN
Introduction The aim of the study was to investigate perinatal outcome of fetuses with hyperechogenic bowel (HB) in relation to gestational age at diagnosis. Materials and Methods This is a retrospective observational study of fetal HB cases from 2002 to 2012. Patients were divided into three groups according to trimester at diagnosis. For each group, data from fetal ultrasound examination, fetal medicine investigations, intrapartum cares, and neonatal outcome were obtained. Results A diagnosis of HB was made in 279 fetuses among them 17 (6%) during the first trimester, 186 (67%) during the second trimester, and 75 (27%) during the third trimester. A significant prevalence of maternal comorbidities was noticed in group 1 (12%: p = 0.02). A chromosomal defect was identified in 13% of the fetuses without difference among the three groups. HB was associated with prenatal infection in 11.5% (n = 32) of the cases, with an equal distribution between groups 2 and 3. Intrauterine growth retardation was noticed in 23% (n = 64) of the cases with a slightly high prevalence in groups 1 (35%). HB was the only ultrasonographic intestinal soft marker in 80% (n = 223) of the fetuses, two-third of them were detected during the first and the second trimesters (p = 0.001). However, HB was associated with bowel dilation in 33% of the cases diagnosed during the third trimester (p = 001). Ultrasonographic extraintestinal anomalies were identified in 30% of the fetuses with a higher prevalence in group 1 (59%). HB resolved spontaneously in 55 (19.7%) cases-without difference among the three groups. In group 1 we recorded a significant prevalence of intrauterine demise (23.5%, p = 0.004). Two hundred twenty-seven (81.3%) pregnancies resulted in live-born neonates; among them gastrointestinal anomalies were noticed in 12.5% with a significant prevalence in group 3 (36%) compared with 6 and 5.4% in groups 1 and 2, respectively (p = 0.001). Extraintestinal anomalies were confirmed in 27% of the cases, whereas postnatal mortality rate was of 7% without differences between the three groups. Conclusion Detection of HB during the first trimester is associated with an increased risk for maternal comorbidities, intrauterine growth retardation, and adverse pregnancy outcome. Moreover, if HB is detected during the second trimester, it is associated with a favorable prognosis. Otherwise, HB detected during the third trimester is associated with a significant risk of gastrointestinal anomaly.
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Intestino Ecogénico/diagnóstico por imagen , Intestino Ecogénico/etiología , Edad Gestacional , Ultrasonografía Prenatal , Intestino Ecogénico/terapia , Femenino , Humanos , Recién Nacido , Masculino , Embarazo , Complicaciones del Embarazo/etiología , Resultado del Embarazo , Trimestres del Embarazo , Estudios Retrospectivos , Resultado del TratamientoRESUMEN
The ultrasonographic detection of renal anomalies may modify obstetric management and facilitate pediatric care of the newborn. We performed prenatal differential diagnosis of an isolated unilateral cystic renal mass (71 × 74 × 82 mm) in a pregnant woman at 26 weeks of gestation. No other abnormalities were detected by ultrasonography, except for polyhydramnios. Repeated percutaneous cyst aspirations were required because of the increasing risk of vital organ damage. Postnatal nephroureterectomy was performed. Anatomopathologic analysis led to the diagnosis of segmental renal dysplasia, which could not be included in any of the four groups of Potter's classification of cystic renal dysplasia.
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Riñón/anomalías , Adulto , Femenino , Edad Gestacional , Humanos , Recién Nacido , Riñón/diagnóstico por imagen , Riñón/cirugía , Enfermedades Renales Quísticas/congénito , Enfermedades Renales Quísticas/diagnóstico por imagen , Enfermedades Renales Quísticas/terapia , Masculino , Nefrectomía , Embarazo , Succión , Ultrasonografía Prenatal , Uréter/cirugíaRESUMEN
Congenital chylous ascites (CCA) is a rare disease that results from maldevelopment of the intra-abdominal lymphatic system. Few cases have been described and no gold standard treatment has been defined so far. Octreotide, a somatostatin analogue, has been used for the treatment of CCA, but always after a failed conservative approach with fasting, total parenteral nutrition (TPN) or medium chain triglyceride (MCT) feeds. We report the case of a newborn with CCA treated by fasting, TPN and octreotide for a period of 15 days until the abdominal distension was successfully reduced at which point treatment was switched to an MCT formula. On day 25 the patient was breastfed and was discharged on day 33. No recurrence of chylous ascites was noted. Our experience highlights the successful treatment with TPN and octreotide as the first step for the conservative approach of CCA in a newborn, reducing the length of treatment and hospitalisation.
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Ascitis Quilosa/congénito , Fármacos Gastrointestinales/uso terapéutico , Enfermedades del Recién Nacido/terapia , Octreótido/uso terapéutico , Nutrición Parenteral Total , Ascitis Quilosa/diagnóstico , Ascitis Quilosa/tratamiento farmacológico , Ascitis Quilosa/terapia , Femenino , Humanos , Recién Nacido , Enfermedades del Recién Nacido/diagnóstico , Enfermedades del Recién Nacido/tratamiento farmacológico , Nutrición Parenteral Total/métodosRESUMEN
OBJECTIVE: The purpose of this study is to define the role of foetal magnetic resonance imaging (MRI) in evaluating cerebral ischaemic-haemorrhagic lesions and the extension of parenchymal injuries. STUDY DESIGN: From September 2006 to September 2010, 271 foetal MRI have been performed on cases referred to us for ultrasound suspect of brain abnormalities or cytomegalovirus infection and Toxoplasma serum conversion. Foetal MRI was performed with a 1.5-T magnet system without mother sedation. RESULTS: Foetal MRI detected ischaemic-haemorrhagic lesions in 14 of 271 foetuses, consisting of 5% incidence. MRI confirmed the diagnosis in three of 14 cases with ultrasonography (US) suspect of ischaemic-haemorrhagic lesions associated with ventriculomegaly. In one of 14 cases with US findings of cerebellar haemorrhage, MRI confirmed the diagnosis and provided additional information regarding the parenchymal ischaemic injury. In eight of 14 cases with US suspect of ventriculomegaly (3), corpus callosum agenesis (2), hypoplasia of cerebellar vermis (1), holoprosencephaly (1) and spina bifida (1), MRI detected ischaemic and haemorrhagic lesions unidentified at US examination. In two of 14 foetuses with US suspect of intracerebral space-occupying lesion, MRI modified the diagnosis to extra-axial haematoma associated with dural sinus malformation. Results were compared with post-mortem findings or afterbirth imaging follow-up. CONCLUSIONS: Foetal MRI is an additional imaging modality in the diagnosis of cerebral ischemic-haemorrhagic lesions, and it is useful in providing further information on the extension of the parenchymal injury and associated abnormalities, thus improving delivery management.
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Isquemia Encefálica/embriología , Hemorragia Cerebral/embriología , Enfermedades Fetales/diagnóstico , Imagen por Resonancia Magnética , Diagnóstico Prenatal/métodos , Anomalías Múltiples , Adulto , Agenesia del Cuerpo Calloso/diagnóstico , Isquemia Encefálica/diagnóstico , Isquemia Encefálica/patología , Enfermedades Cerebelosas/diagnóstico , Cerebelo/anomalías , Hemorragia Cerebral/diagnóstico , Hemorragia Cerebral/patología , Infecciones por Citomegalovirus/diagnóstico , Anomalías del Ojo/diagnóstico , Femenino , Enfermedades Fetales/patología , Edad Gestacional , Holoprosencefalia/diagnóstico , Humanos , Enfermedades Renales Quísticas/diagnóstico , Embarazo , Retina/anomalías , Disrafia Espinal/diagnósticoRESUMEN
OBJECTIVE: To show the validity of prenatal invasive surgical intervention when a fetal ovarian cyst is diagnosed, compared to a wait and see attitude, in order to avoid possible prenatal and postnatal complications. PATIENTS: Fourteen cases of intra-abdominal cysts monitored in our center between April 2005 and November 2010. All cases were first diagnosed in the third trimester, and were monitored for the remainder of the pregnancy and after delivery (2 months-3 years postnatally). SURGICAL INTERVENTION: Upon maternal and fetal cutaneous anesthesia performed trans-amniotically, the cystic fluid (mean contents 43.85 cc, DS 46.27) was extracted for cytological, biochemical, and hormonal examination. RESULTS: Thirteen cases of intra-abdominal cysts (92.8%) were fetal ovarian cysts. Ninety-two percent of pregnancies bearing such a condition were successfully concluded (nâ=â12). Sixty-nine percent concluded in vaginal delivery (nâ=â9). None experienced maternal and/or fetal complications. Every drained cyst had an estradiol concentration higher than 10,000 pg/ml. CONCLUSIONS: The aspiration of ovarian cysts exceeding a 40 mm diameter, performed as early as possible, allows a good longitudinal treatment of this fetal affection, thus avoiding torsion, tissue necrosis, and invasive postnatal surgery, as well as giving hope of future gestational capability to the fetus/newborn.
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Terapias Fetales/métodos , Quistes Ováricos/cirugía , Enfermedades del Ovario/cirugía , Adulto , Femenino , Humanos , Quistes Ováricos/diagnóstico por imagen , Enfermedades del Ovario/diagnóstico por imagen , Embarazo , Reproducibilidad de los Resultados , Ultrasonografía PrenatalRESUMEN
Matthew-Wood, Spear, PDAC or MCOPS9 syndrome are alternative names used to refer to combinations of microphthalmia/anophthalmia, malformative cardiac defects, pulmonary dysgenesis, and diaphragmatic hernia. Recently, mutations in STRA6, encoding a membrane receptor for vitamin A-bearing plasma retinol binding protein, have been identified in such patients. We performed STRA6 molecular analysis in three fetuses and one child diagnosed with Matthew-Wood syndrome and in three siblings where two adult living brothers are affected with combinations of clinical anophthalmia, tetralogy of Fallot, and mental retardation. Among these patients, six novel mutations were identified, bringing the current total of known STRA6 mutations to seventeen. We extensively reviewed clinical data pertaining to all twenty-one reported patients with STRA6 mutations (the seven of this report and fourteen described elsewhere) and discuss additional features that may be part of the syndrome. The clinical spectrum associated with STRA6 deficiency is even more variable than initially described.
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Anomalías Múltiples/genética , Anoftalmos/complicaciones , Anoftalmos/genética , Proteínas de la Membrana/genética , Mutación/genética , Adulto , Secuencia de Aminoácidos , Resultado Fatal , Femenino , Humanos , Lactante , Masculino , Proteínas de la Membrana/química , Datos de Secuencia Molecular , Fenotipo , Alineación de Secuencia , SíndromeRESUMEN
BACKGROUND: The detection of prenatal ventriculomegaly raises anxiety about possible neurological sequelae. A few studies have investigated possible neurodevelopmental sequelae in the first years after birth but no systematic assessment has been performed at school age. AIMS: The aim of this study was to assess minor neurological signs, perceptual and visual function in a cohort of children with isolated mild antenatal ventricular dilatation examined at school age. STUDY DESIGN: Seventeen children with evidence of mild antenatal ventriculomegaly in the second and third trimester of pregnancy were included in the study. OUTCOME MEASURES: Children were assessed at school age (range 5 years 3 months-11 years, 11 months) using a structured neurological examination for minor neurological signs and age specific tests assessing perceptual motor abilities (Developmental Test of Visual-Motor Integration; Movement Assessment Battery for Children). RESULTS: Only one of the 17 children had abnormal results. The remaining 16 had normal results on all the tests, irrespective of the magnitude and the symmetry of the dilatation or of its evolution on neonatal scan. CONCLUSIONS: Our results suggest that children who had mild isolated prenatal ventricular dilatation are unlikely to develop even minor motor or perceptual difficulties at school age.
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Ventrículos Cardíacos/anomalías , Desempeño Psicomotor , Agudeza Visual , Niño , Cognición , HumanosRESUMEN
OBJECTIVE: The aim of this study was to assess visual function in 13 infants with evidence of prenatal post haemorrhagic ventricular dilatation. DESIGN: Infants were assessed at 5, 12 and 24 months using a battery of tests specifically designed to assess various aspects of visual function in infancy. Visual findings were correlated with several variables, including extent of the lesion and presence of epilepsy. RESULTS AND CONCLUSIONS: Abnormalities of visual function were frequent (over 60%) in our cohort at age 2 years, ranging from isolated abnormal ocular movements to severe abnormalities of all the aspects of visual function assessed. The most severe and persistent abnormalities of visual function were found in infants with grade IV intraventricular haemorrhage and shunted hydrocephalus who also had epilepsy in the first year.
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Hemorragia Cerebral/complicaciones , Trastornos de la Visión/etiología , Hemorragia Cerebral/diagnóstico por imagen , Hemorragia Cerebral/embriología , Ventrículos Cerebrales/diagnóstico por imagen , Ventrículos Cerebrales/patología , Dilatación Patológica/complicaciones , Dilatación Patológica/diagnóstico por imagen , Dilatación Patológica/embriología , Epilepsia/complicaciones , Movimientos Oculares , Femenino , Estudios de Seguimiento , Humanos , Lactante , Masculino , Trastornos de la Motilidad Ocular/embriología , Trastornos de la Motilidad Ocular/etiología , Ultrasonografía Prenatal , Trastornos de la Visión/embriología , Trastornos de la Visión/fisiopatología , Agudeza Visual , Campos VisualesRESUMEN
OBJECTIVE: To analyse animal-related injury features treated in an emergency department. METHODS: Inspection of all reports concerning animal-related injuries treated in the emergency department in 1998-1999, researched through non-codified diagnosis. RESULTS: A total of 988 patients (1.66% of annual emergency department visits) were treated in the emergency department for animal-related injuries. Prevalence of the causing agent was as follows: insects 53.1% (74.9% not identified), mammals 30.9%, marine fauna 7.4%, arachnids 7.1%, reptiles 0.51%, birds 0.51% and intestinal parasites 0.4%. Sex prevalence was also noted: male 59.6%. Age most affected was III-IV decades. Month prevalence: August, except for arachnids, cats and reptiles. Mammals cause a number of lesions higher than any other group from November to May, while insect-related lesions are prevalent from June to October. In dog-related injuries, the upper right extremity prevails over the left (63%, P<0.001). Bites included 28.7% of all cases; cats caused only bite lesions in 50% of cases, and dogs in 95%. Allergic reactions were observed in 18.6% of patients with insect and marine fauna injuries. Vespids show the highest allergic reaction/injury ratio (44%). Hospital admittance was 2.7% of all animal-related injury visits (7.9 cases/100 000 residents). CONCLUSIONS: Insects are the prevalent injuring animals but most are not identified; thus, dogs account for most injuries among identified animals (25.2% of total cases). Insects cause most hospitalizations because of allergic and infective complications (erysipelas). Mammalian and bird injuries being excluded, the diagnosis of 'animal lesion' was defined 'probable' in 11.7%; in some cases, a dermatologist's consultation is required. In serious allergic reactions, adrenaline is rarely used.
Asunto(s)
Mordeduras y Picaduras/epidemiología , Servicio de Urgencia en Hospital/estadística & datos numéricos , Adolescente , Adulto , Distribución por Edad , Anciano , Anciano de 80 o más Años , Animales , Mordeduras y Picaduras/complicaciones , Niño , Preescolar , Femenino , Humanos , Hipersensibilidad/epidemiología , Hipersensibilidad/etiología , Lactante , Recién Nacido , Italia/epidemiología , Masculino , Persona de Mediana Edad , Prevalencia , Medición de Riesgo , Factores de Riesgo , Estaciones del Año , Distribución por Sexo , Revisión de Utilización de RecursosRESUMEN
OBJECTIVE: To evaluate the efficacy of transabdominal amnioinfusion on feto-neonatal and maternal morbidity and feto-neonatal mortality. METHODS: We studied 71 patients with preterm premature rupture of membranes (pPROM) at <26 weeks of gestational age. Thirty-four patients were managed expectantly and 37 underwent serial transabdominal amnioinfusion with saline every 7 days in case of persistent oligohydramnios. RESULTS: Latency period pPROM delivery, week of delivery (26.0 vs. 22.4, p<0.001), neonatal weight (922 vs. 602, p<0.01) and the percentage of intrauterine fetal survival were higher in treated than in control groups (64.8 vs. 32.3%, p<0.01). In amnioinfusion-treated patients, we did not note a higher rate of complications from infection during both pregnancy and puerperium. In the amnioinfusion group, fluid loss within 6 h after infusion is the main variable in predicting pulmonary hypoplasia and neonatal survival. CONCLUSIONS: Our data suggest that amnioinfusion seems to be a low fetal and maternal risk technique that modifies the natural history of pPROM, improving fetal intrauterine stay and survival.
Asunto(s)
Amnios/efectos de los fármacos , Rotura Prematura de Membranas Fetales/tratamiento farmacológico , Edad Gestacional , Oligohidramnios/tratamiento farmacológico , Adulto , Amnios/diagnóstico por imagen , Amnios/microbiología , Distribución de Chi-Cuadrado , Femenino , Rotura Prematura de Membranas Fetales/diagnóstico por imagen , Rotura Prematura de Membranas Fetales/microbiología , Humanos , Recién Nacido , Infusiones Parenterales/métodos , Masculino , Oligohidramnios/diagnóstico por imagen , Oligohidramnios/microbiología , Embarazo , Estudios Prospectivos , Cloruro de Sodio/administración & dosificación , Cloruro de Sodio/uso terapéutico , Estadísticas no Paramétricas , Análisis de Supervivencia , UltrasonografíaRESUMEN
We report the cases of 2 pregnant patients, suffering from toxoplasmosis, who developed an erythematous, maculopapular rash during spiramycin therapy that disappeared with discontinuation of the drug. The 2 patients underwent a tolerance induction protocol with spiramycin and were able to continue therapy with this drug until the end of their pregnancies, with no side-effects.