RESUMEN
PURPOSE: This study aimed to describe longitudinal trends in children's moderate-to-vigorous physical activity (MVPA) and to investigate associations with individual, familial, and school characteristics. METHODS: A sample of 341 Portuguese children age 5-10 yr (173 girls) from six age cohorts was followed over 3 yr using a mixed-longitudinal design. Physical activity, body mass index (BMI), gross motor coordination, and musculoskeletal fitness were assessed annually. Information on socioeconomic status and school characteristics was collected and analyzed with mixed models. RESULTS: MVPA shows a similar declining trend in both sexes, but on average, boys exceeded the World Health Organization recommendations of 60 min·d -1 . The best model showed that boys spend, on average, more time in MVPA than girls. Children with lower BMI are less prone to the decline in MVPA, whereas higher levels of musculoskeletal fitness were associated with lower declines in MVPA. Of all school characteristics, only playground dimension was related to MVPA decreasing trajectories. CONCLUSIONS: MVPA systematically declines from 5 to 10 yr of age in both boys and girls, but boys remained more active than girls across the age range. The best predictors of MVPA decline are sex, BMI, musculoskeletal fitness, and school playground dimension.
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Ejercicio Físico , Instituciones Académicas , Humanos , Niño , Masculino , Femenino , Preescolar , Índice de Masa CorporalRESUMEN
Studies have shown important associations between low birth weight (BW), a variety of morbidities, and reduced motor performance. Using a twin sample, this study aimed to verify (a) the magnitude of the association between BW and neuromotor performance (NMP); (b) if the NMP of twins is within the normal range; and (c) if monozygotic (MZ) and dizygotic (DZ) twins' intra-pair similarities in NMP are of equal magnitude. We sampled 191 twins (78 MZ; 113 DZ distinguished through their DNA), aged 8.9 ± 3.1 years with an average BW of 2246.3 ± 485.4 g; gestational characteristics and sports practices were also assessed. The Zurich Neuromotor test battery, comprising five main tasks, was used; Twins NMP assessments were highly reliable (intra-rater reliability: 0.76-0.99). BW accounted for up to 11% of the total variance of NMP across the zygosity groups. Between 32.7% and 76.9% of children were below the 10th percentile for tasks requiring timing of performance (purely motor task, adaptive fine motor task, dynamic, and static balance), while less than 6.4% of children were below the 10th percentile for associated movements. MZ twins NMP intraclass correlations showed greater similarity than DZ twins in three of the five tasks, suggesting the importance of genetic factors in NMP.
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Peso al Nacer/fisiología , Destreza Motora/fisiología , Análisis y Desempeño de Tareas , Gemelos Dicigóticos , Gemelos Monocigóticos , Niño , Preescolar , Femenino , Humanos , Masculino , Equilibrio Postural/fisiologíaRESUMEN
INTRODUCTION: MRI, proton magnetic resonance spectroscopy (¹H-MRS), and diffusion tensor imaging (DTI) have been shown to be of great prognostic value in term newborns with moderate-severe hypoxic-ischemic encephalopathy (HIE). Currently, no data are available on ¹H-MRS and DTI performed in the subacute phase after hypothermic treatment. The aim of the present study was to assess their prognostic value in newborns affected by moderate-severe HIE and treated with selective brain cooling (BC). METHODS: Twenty infants treated with BC underwent conventional MRI and (1)H-MRS at a mean (SD) age of 8.3 (2.8) days; 15 also underwent DTI. Peak area ratios of metabolites and DTI variables, namely mean diffusivity (MD), axial and radial diffusivity, and fractional anisotropy (FA), were calculated. Clinical outcome was monitored until 2 years of age. RESULTS: Adverse outcome was observed in 6/20 newborns. Both ¹H-MRS and DTI variables showed higher prognostic accuracy than conventional MRI. N-acetylaspartate/creatine at a basal ganglia localisation showed 100% PPV and 93% NPV for outcome. MD showed significantly decreased values in many regions of white and gray matter, axial diffusivity showed the best predictive value (PPV and NPV) in the genu of corpus callosum (100 and 91%, respectively), and radial diffusivity was significantly decreased in fronto white matter (FWM) and fronto parietal (FP) WM. The decrement of FA showed the best AUC (0.94) in the FPWM. CONCLUSION: Selective BC in HIE neonates does not affect the early and accurate prognostic value of ¹H-MRS and DTI, which outperform conventional MRI.
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Encéfalo/metabolismo , Encéfalo/patología , Crioterapia/métodos , Imagen de Difusión Tensora/métodos , Hipoxia-Isquemia Encefálica/diagnóstico , Hipoxia-Isquemia Encefálica/terapia , Imagen por Resonancia Magnética/métodos , Biomarcadores/análisis , Femenino , Humanos , Hipoxia-Isquemia Encefálica/metabolismo , Recién Nacido , Masculino , Pronóstico , Protones , Reproducibilidad de los Resultados , Sensibilidad y Especificidad , Resultado del TratamientoRESUMEN
Blood pressure (BP) and physical activity (PA) levels are inversely associated. Since genetic factors account for the observed variation in each of these traits, it is possible that part of their association may be related to common genetic and/or environmental influences. Thus, this study was designed to estimate the genetic and environmental correlations of BP and PA phenotypes in nuclear families from Muzambinho, Brazil. Families including 236 offspring (6 to 24 years) and their 82 fathers and 122 mothers (24 to 65 years) were evaluated. BP was measured, and total PA (TPA) was assessed by an interview (commuting, occupational, leisure time, and school time PA). Quantitative genetic modeling was used to estimate maximal heritability (h²), and genetic and environmental correlations. Heritability was significant for all phenotypes (systolic BP: h² = 0.37 ± 0.10, P < 0.05; diastolic BP: h² = 0.39 ± 0.09, P < 0.05; TPA: h² = 0.24 ± 0.09, P < 0.05). Significant genetic (r g) and environmental (r e) correlations were detected between systolic and diastolic BP (r g = 0.67 ± 0.12 and r e = 0.48 ± 0.08, P < 0.05). Genetic correlations between BP and TPA were not significant, while a tendency to an environmental cross-trait correlation was found between diastolic BP and TPA (r e = -0.18 ± 0.09, P = 0.057). In conclusion, BP and PA are under genetic influences. Systolic and diastolic BP share common genes and environmental influences. Diastolic BP and TPA are probably under similar environmental influences.
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Adolescente , Adulto , Anciano , Niño , Femenino , Humanos , Masculino , Persona de Mediana Edad , Adulto Joven , Presión Sanguínea/genética , Interacción Gen-Ambiente , Predisposición Genética a la Enfermedad/genética , Hipertensión/genética , Actividad Motora/genética , Brasil , Carácter Cuantitativo HeredableRESUMEN
Blood pressure (BP) and physical activity (PA) levels are inversely associated. Since genetic factors account for the observed variation in each of these traits, it is possible that part of their association may be related to common genetic and/or environmental influences. Thus, this study was designed to estimate the genetic and environmental correlations of BP and PA phenotypes in nuclear families from Muzambinho, Brazil. Families including 236 offspring (6 to 24 years) and their 82 fathers and 122 mothers (24 to 65 years) were evaluated. BP was measured, and total PA (TPA) was assessed by an interview (commuting, occupational, leisure time, and school time PA). Quantitative genetic modeling was used to estimate maximal heritability (h²), and genetic and environmental correlations. Heritability was significant for all phenotypes (systolic BP: h² = 0.37 ± 0.10, P < 0.05; diastolic BP: h² = 0.39 ± 0.09, P < 0.05; TPA: h² = 0.24 ± 0.09, P < 0.05). Significant genetic (r g) and environmental (r e) correlations were detected between systolic and diastolic BP (r g = 0.67 ± 0.12 and r e = 0.48 ± 0.08, P < 0.05). Genetic correlations between BP and TPA were not significant, while a tendency to an environmental cross-trait correlation was found between diastolic BP and TPA (r e = -0.18 ± 0.09, P = 0.057). In conclusion, BP and PA are under genetic influences. Systolic and diastolic BP share common genes and environmental influences. Diastolic BP and TPA are probably under similar environmental influences.
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Presión Sanguínea/genética , Interacción Gen-Ambiente , Predisposición Genética a la Enfermedad/genética , Hipertensión/genética , Actividad Motora/genética , Adolescente , Adulto , Anciano , Brasil , Niño , Femenino , Humanos , Masculino , Persona de Mediana Edad , Carácter Cuantitativo Heredable , Adulto JovenAsunto(s)
Diarrea/congénito , Errores Innatos del Metabolismo/diagnóstico por imagen , Recto/diagnóstico por imagen , Ultrasonografía Prenatal , Diagnóstico Diferencial , Diarrea/diagnóstico por imagen , Dilatación Patológica/diagnóstico por imagen , Femenino , Humanos , Polihidramnios/etiología , EmbarazoRESUMEN
INTRODUCTION: The mechanisms responsible for postoperative chylothorax in Congenital Diaphragmatic Hernia (CDH) patients remain unclear. The aim of the present study was to examine the clinical features of CDH that may contribute to an association with postoperative chylothorax. MATERIAL AND METHODS: 198 neonates with CDH, in whom surgical repair of a diaphragmatic defect was performed between 1981 and 2008, were retrospectively studied. The patients were divided into 2 groups; patients with postoperative chylothorax (group I, n=11) and patients without postoperative chylothorax (group II, n=187). The clinical findings were compared between group I and group II to investigate potential predictive parameters for an association with chylothorax. Moreover, the clinical findings and treatments were evaluated in patients with chylothorax. RESULTS: 11 of the 198 infants (5.5%) developed a chylothorax. Although the incidence of a prenatal diagnosis was slightly higher in group I, no relationship with other clinical features was found which would indicate the severity of CDH or the occurrence of postoperative chylothorax. Treatment for chylothorax was drainage alone in 2 cases, total parenteral nutrition with drainage in 8 infants and additional intrathoracic OK-432 infusion in 1 patient. No patients required surgical intervention for chylothorax. No recurrences were observed in this patient series. CONCLUSIONS: It was concluded that postoperative chylothorax is not rare in infants after CDH repair. However, no statistically significant predictive parameters for chylothorax were identified, except for the presence of a prenatal diagnosis.
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Quilotórax/terapia , Quilotórax/etiología , Femenino , Hernia Diafragmática/cirugía , Hernias Diafragmáticas Congénitas , Humanos , Recién Nacido , Masculino , Estudios RetrospectivosRESUMEN
OBJECTIVE: To present antenatal sonographic findings and outcome of fetuses with hypoplasia or partial agenesis of the corpus callosum. METHODS: The database of our ultrasound laboratory was searched retrospectively for cases of hypoplasia or partial agenesis of the corpus callosum suspected at antenatal neurosonography between 1998 and 2008 and confirmed by pathology or postnatal neuroimaging. In surviving infants, clinical follow-up had been arranged to assess neurodevelopmental outcome. RESULTS: Nineteen fetuses with callosal underdevelopment were identified at a median gestational age of 22 (range, 21-33) weeks and confirmed at follow-up, including 14 with partial agenesis and five with hypoplasia. Among the 14 fetuses with partial agenesis, there were additional brain findings in 10, including two with absent cavum septi pellucidi, four with mild isolated ventriculomegaly and four with cerebellar abnormalities, two of which also had ventriculomegaly. Pregnancy was terminated electively in seven of the cases with partial agenesis and there was one neonatal death. Among the six surviving infants, neurodevelopmental outcome was appropriate for age in three at follow up, including two cases with isolated partial agenesis of the corpus callosum. Among the five fetuses with prenatally diagnosed callosal hypoplasia, additional anomalies were present in four. Two cases were terminated electively and three were alive at the time of writing, with a median age of 3 years. Among them, apparently normal neurological development was observed in only one case. CONCLUSIONS: An antenatal diagnosis of callosal underdevelopment is possible by expert sonography. There is often association with other major anomalies. However, even in fetuses with apparently isolated findings, the prognosis is uncertain.
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Anomalías Múltiples/diagnóstico por imagen , Agenesia del Cuerpo Calloso , Enfermedades Fetales/diagnóstico por imagen , Anomalías Múltiples/mortalidad , Anomalías Múltiples/patología , Cuerpo Calloso/diagnóstico por imagen , Cuerpo Calloso/patología , Femenino , Enfermedades Fetales/mortalidad , Enfermedades Fetales/patología , Estudios de Seguimiento , Edad Gestacional , Humanos , Recién Nacido , Masculino , Embarazo , Resultado del Embarazo , Diagnóstico Prenatal , Estudios Retrospectivos , UltrasonografíaRESUMEN
A boy aged 2 years and 7 months who had undergone duodeno-duodenostomy for duodenal atresia and annular pancreas in the neonatal period presented with recurrent pancreatitis. ERCP showed an incomplete pancreas divisum associated with pancreaticobiliary maljunction. At 3 years and 8 months of age, we performed a Frey procedure in combination with total excision of the extrahepatic bile duct. The main pancreatic duct was opened in the body and the head was cored out anteriorly. The pancreaticobiliary system was reconstructed with a Roux-en-Y anastomosis. The patient has been free from symptoms with excellent weight gain in the follow-up period of 20 months. The Frey procedure can be a safe and effective operation in children with chronic pancreatitis caused by complex pancreatobiliary disorders associated with duodenal atresia.
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Conductos Biliares Extrahepáticos/anomalías , Duodeno/anomalías , Atresia Intestinal/complicaciones , Páncreas/anomalías , Pancreatitis Crónica/cirugía , Preescolar , Colangiopancreatografia Retrógrada Endoscópica , Humanos , Atresia Intestinal/diagnóstico por imagen , Masculino , Pancreatitis Crónica/diagnóstico por imagen , Pancreatitis Crónica/etiologíaRESUMEN
PURPOSE: Colonic atresia and stenosis are rare causes of intestinal obstruction in the infant. Only 1.8%-15% of intestinal atresias occur in the colon. Congenital colonic stenosis is even less common than colonic atresia. Only 10 cases have been reported in Literature since 1966 and only one late-onset case has been reported in Literature until now. We describe the case of a 4-month-old baby coming to our attention because of an intestinal subocclusion due to a congenital colonic stenosis of the ascending colon. CASE REPORT: A 4-month-old baby came to our attention for persistent abdominal distension, reduction of bowl function and decaying of overall clinical conditions. A plain abdominal radiograph showed distended intestinal loops with air-fluid levels and no gas in the rectum. During the barium enema the contrast medium appeared to completely fill the lumen of the colon up to the ileo-cecal valve and Cecum appearing higher than normal. Beyond the ileo-cecal valve, the contrast medium showed an abnormal hypotonic dilatation of the small intestinal loops. Suspecting an organic intestinal obstruction, an explorative laparotomy was deemed necessary and at halfway in the ascending colon a stenosis was found. RESULTS: The post-operative course was uneventful and the patient is currently in good clinical conditions, has a normal diet and is thriving. CONCLUSION: Considering both the Literature and our own experience, it is wise to reckon the congenital colonic stenosis as a rare but possible cause of complete or partial intestinal obstruction not only in the newborn but also throughout the first year of life.
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Enfermedades del Colon/congénito , Obstrucción Intestinal/congénito , Factores de Edad , Anastomosis Quirúrgica , Enfermedades del Colon/diagnóstico por imagen , Enfermedades del Colon/cirugía , Constricción Patológica/congénito , Humanos , Lactante , Obstrucción Intestinal/diagnóstico por imagen , Obstrucción Intestinal/cirugía , Laparotomía , Masculino , Radiografía Abdominal , Resultado del TratamientoRESUMEN
OBJECTIVE: The cause of hyperintense magnetic resonance changes and reduced apparent diffusion coefficient (ADC) in specific brain regions of patients with Creutzfeldt-Jakob disease (CJD) is unknown. Our aim was to determine the neuropathologic correlates of antemortem water ADC and normalized T2-weighted changes in patients with CJD. METHOD: Ten patients with CJD and 10 sex- and age-matched healthy controls were studied by DWI and T2-weighted echoplanar MRI. At postmortem, patients with CJD were evaluated for semiquantitative assessment of gliosis and neuronal loss, spongiform changes, and abnormal PrP protein deposition in four cortical regions (occipital, parietal, and temporal cortex, and cingulate gyrus), thalamus, and striatum for a total of 60 regions of interest (ROI). RESULTS: Gliosis and neuronal loss correlated very highly with each other in the 60 ROIs. Where status spongiosus was absent, spongiform change correlated very highly with gliosis and neuronal loss in the cortex, but not in deep gray matter. Spongiform change was also significantly correlated with PrPSc load in both cortical and deep gray ROIs. In deep gray matter, ADC decreased with increasing spongiform change (R2 = 0.78; p < 0.001) and PrPSc load (R2 = 0.51; p = 0.003). In the cortex, ADC decreased with increases in all three, highly correlated, pathologic scores. CONCLUSION: Antemortem reductions in ADC values, typically found in patients with Creutzfeldt-Jakob disease (CJD), are correlated with spongiform changes seen at autopsy. This could be clearly established in the striatum and thalamus of our patients with CJD where the extent of spongiform change was not significantly correlated with gliosis or neuronal loss.
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Encéfalo/patología , Síndrome de Creutzfeldt-Jakob/patología , Imagen de Difusión por Resonancia Magnética/métodos , Adulto , Anciano , Autopsia , Ganglios Basales/patología , Ganglios Basales/fisiopatología , Encéfalo/fisiopatología , Mapeo Encefálico/métodos , Corteza Cerebral/patología , Corteza Cerebral/fisiopatología , Síndrome de Creutzfeldt-Jakob/fisiopatología , Progresión de la Enfermedad , Femenino , Gliosis/patología , Gliosis/fisiopatología , Humanos , Procesamiento de Imagen Asistido por Computador/métodos , Masculino , Persona de Mediana Edad , Degeneración Nerviosa/patología , Degeneración Nerviosa/fisiopatología , Valor Predictivo de las Pruebas , Tálamo/patología , Tálamo/fisiopatologíaRESUMEN
It is common in forensic casework to encounter situations where the suspect has set a fire to cover up or destroy possible evidence. While bloodstain pattern interpretation, chemical enhancement of blood, and recovery of deoxyribonucleic acid (DNA) from bloodstains is well documented in the literature, very little information is known about the effects of heat or fire on these types of examinations. In this study, a variety of known types of bloodstain patterns were created in a four-room structure containing typical household objects and furnishings. The structure was allowed to burn to flashover and then it was extinguished by firefighters using water. Once the structure cooled over night, the interior was examined using a bright light. The bloodstains were evaluated to see if the heat or fire had caused any changes to the patterns that would inhibit interpretation. Bloodstain patterns remained visible and intact inside the structure and on furnishings unless the surface that held the blood was totally burned away. Additionally, a variety of chemical techniques were utilized to better visualize the patterns and determine the possible presence of blood after the fire. The soot from the fire formed a physical barrier that initially interfered with chemical enhancement of blood. However, when the soot was removed using water or alcohol, the chemicals used, fluorescein, luminol, Bluestar, and Hemastix, performed adequately in most of the tests. Prior to DNA testing, the combined phenolphthalein/tetramethyl benzidine presumptive test for the presence of blood was conducted in the laboratory on samples recovered from the structure in an effort to assess the effectiveness of using this type of testing as a screening tool. Test results demonstrated that reliance on obtaining a positive presumptive result for blood before proceeding with DNA testing could result in the failure to obtain useful typing results. Finally, two DNA recovery methods (swabbing the stain plus cutting or scraping the stain) were attempted to evaluate their performance in recovering samples in an arson investigation. Recovery of DNA was more successful in some instances with the swabbing method, and in other instances with the cutting/scraping method. Therefore, it is recommended that both methods be used. For the most part, the recovered DNA seemed to be unaffected by the heat, until the temperature was 800 degrees C or greater. At this temperature, no DNA profiles were obtained.
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Manchas de Sangre , ADN/aislamiento & purificación , Incendios , Medicina Legal/métodos , Manejo de Especímenes/métodos , Bencidinas , Compuestos Cromogénicos , Fluoresceína , Colorantes Fluorescentes , Calor , Humanos , Indicadores y Reactivos , Sustancias Luminiscentes , Luminol , Fenolftaleína , Tiras ReactivasRESUMEN
INTRODUCTION: Congenital cystic lesions of the lung in children are uncommon but potentially life-threatening and warrant an urgent diagnostic work-up. Pulmonary sequestration (PS), congenital cystic adenomatoid malformation (CCAM), congenital lobar emphysema (CLE), and bronchogenic cyst (BC) are the four major congenital cystic lesions, but they share similar embryologic and clinical characteristics. The purpose of this study is to review our institutional experience with congenital cystic lung disease emphasizing on diagnosis and management. PATIENTS AND METHODS: Between January 1975 and October 2007, 109 patients have been treated, of which 57 males and 52 females, the age ranged from the birth to 13 years. 104 patients presented solitary lesions: CCAM (47), CLE (16), PS (22), BC (19). The remainders 5 patients presented two simultaneous lesions: intralobar PS and CCAM (2), CLE and CCAM (3). RESULTS: All the lesions have been treated surgically: in the first cases, only symptomatic patients underwent surgery, while in the last years, patients have systematically been submitted operated. CONCLUSIONS: A meaningful percentage of CCAM joins to PS and CLE; instead the BC are generally isolated, probably deriving by a more precocious embryogenetic defect. The treatment of these lesions is surgical: CCAM (type I-II) and CLE should be treated promptly in newborns for respiratory distress and pneumothorax; CCAM (type II) and BC generally become symptomatic gradually and expose to degenerative risk; intralobar PS generally becomes symptomatic and surgery prevents the risk of infections. Extralobar PS and the asymptomatic BC are not exempted by surgical approach whenever accidentally described as masses of uncertain nature. Asymptomatic cysts in children should be resected, to avoid later complications of the cysts, which could make operation more difficult. Conservative anatomic resections should be attempted to preserve functional lung tissue. Careful histologic examination of the resection specimen is mandatory to identify occult malignancy. In conclusion a correct embryogenetic organization and a clinical evaluation of the congenital cystic lung diseases allow a precocious and effective surgical timing.
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Quiste Broncogénico/diagnóstico , Quiste Broncogénico/cirugía , Secuestro Broncopulmonar/diagnóstico , Secuestro Broncopulmonar/cirugía , Malformación Adenomatoide Quística Congénita del Pulmón/diagnóstico , Malformación Adenomatoide Quística Congénita del Pulmón/cirugía , Quiste Broncogénico/congénito , Niño , Preescolar , Femenino , Humanos , Lactante , Recién Nacido , Masculino , Neumonectomía , Enfisema Pulmonar/congénito , Enfisema Pulmonar/diagnóstico , Enfisema Pulmonar/cirugía , Estudios Retrospectivos , Procedimientos Quirúrgicos Torácicos , Resultado del TratamientoRESUMEN
BACKGROUND: Advancements in minimally invasive surgery in newborns have allowed even the most complex neonatal procedures to be approached using these techniques. Other authors have demonstrated its efficacy in the treatment of the esophageal atresia with distal fistula. METHODS: We report our experience based on the thoracoscopic repair of esophageal atresia with distal fistula in two newborns. Birth weights were 2.800 g and 2.300 g respectively. The patients were intubated endotracheally and placed in a left prone position. Four trocars were inserted: the first one of 5 mm was positioned in the fifth intercostal space for the camera, the other two of 3 mm were positioned in the fourth intercostal space on the anterior and posterior axillary line respectively for the operative instruments. The last trocar of 3 mm was inserted in the third intercostal space on the anterior axillary line for the lung retractor. CO2 was insufflated at a pressure of 8 mm Hg and a flow of 0.5 L/min. The fistula was first isolated then ligated and cut with scissors. The proximal esophagus was opened and an anastomosis was made over a 6F or 8F nasogastric tube with interrupted 4-0 Vicryl sutures. A tube chest was placed through the lower trocar site with the tip near the anastomosis. RESULTS: These two procedures were free of neither intraoperative nor post-operative complications. Feeding by nasogastric tube was started after a mean of 4 days. Barium swallow made on day 7 demonstrated no leakage and no stenosis of the anastomosis. Total oral feeding was possible after 8 days. Mean hospitalization was 14 days. CONCLUSION: This initial report shows, as demonstrated by the experience since 1999 by other authors, that the thoracoscopic esophageal repair in the newborns is technically feasible and, thanks to a magnified vision, it allows to abtain a good isolation of the esophagus and of the tracheo-esophageal fistula respecting the anatomical structures. Moreover the advantages are in terms of exposure and esophageal length, avoiding the significant short and long-term morbidity associated with thoracotomy.
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Atresia Esofágica/cirugía , Toracoscopía/métodos , Peso al Nacer , Nutrición Enteral , Atresia Esofágica/diagnóstico por imagen , Femenino , Humanos , Recién Nacido , Tiempo de Internación , Masculino , Cuidados Posoperatorios , Radiografía Abdominal , Radiografía Torácica , Técnicas de Sutura , Suturas , Fístula Traqueoesofágica/cirugía , Resultado del TratamientoRESUMEN
OBJECTIVE: To identify criteria useful for differentiating closed from open spina bifida antenatally. PATIENTS AND METHODS: A retrospective study of cases of spina bifida diagnosed in a referral center between 1997 and 2004. RESULTS: Of 66 cases of fetal spina bifida diagnosed at a median gestational age of 21 (range, 16-34) weeks, detailed follow-up was available for 57. Of these, open defects were found in 53 (93.0%) and closed defects in four (7.0%). Closed spina bifida was associated in two cases with a posterior cystic mass with thick walls and a complex appearance, while in two cases the spinal lesion could not be clearly differentiated from an open defect, particularly at mid-gestation. Open spina bifida was always associated with typical alterations of cranial anatomy, including the so-called 'banana' and 'lemon' signs, while in closed spina bifida the cranium was unremarkable. When the data were available, levels of amniotic fluid alpha-fetoprotein were always abnormally elevated with open spina bifida and within normal limits with closed forms. CONCLUSION: In this study 7% of cases of spina bifida diagnosed in utero were closed. The differentiation between open and closed forms is best shown by the sonographic demonstration of abnormal or normal cranial anatomy.
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Enfermedades Fetales/diagnóstico , Diagnóstico Prenatal/métodos , Disrafia Espinal/diagnóstico , Ultrasonografía Prenatal/métodos , Diagnóstico Diferencial , Femenino , Edad Gestacional , Humanos , Recién Nacido , Masculino , Embarazo , Estudios Retrospectivos , Disrafia Espinal/embriologíaRESUMEN
OBJECTIVE: To assess the feasibility of the prenatal diagnosis using fetal neurosonography of brain injuries in the surviving fetus after the demise of a monochorionic cotwin. METHODS: This was a retrospective observational study in the period 1990-2004 of monochorionic twin pregnancies with a single fetal demise. A detailed sonographic evaluation of the intracranial anatomy of the surviving twin had been performed whenever possible using a multiplanar approach and from 1999, fetal magnetic resonance imaging was offered as well. Postnatal follow-up was obtained in all cases. RESULTS: In six of nine cases, abnormal neurosonographic findings were identified including intracranial hemorrhage, brain atrophy, porencephaly and periventricular echogenicities evolving into polymicrogyria. Prenatal diagnosis of brain lesions was confirmed postnatally and all affected infants who survived had severe neurological sequelae. Two fetuses had normal cerebral structures both on the prenatal neurosonogram and on postnatal imaging and were following normal developmental milestones, one at 1 and the other at 5 years of age. In one case the neurosonographic examination was suboptimal and the infant was found at birth to have a porencephalic cyst. Fetal magnetic resonance imaging was performed in two cases and confirmed the ultrasound diagnosis. CONCLUSIONS: Prenatal neurosonography is a valuable tool for the prediction of neurological outcome in fetuses surviving after the intrauterine death of a monochorionic cotwin. Although our experience is limited, we suggest that magnetic resonance imaging should also be offered.
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Encefalopatías/diagnóstico por imagen , Encefalopatías/embriología , Enfermedades en Gemelos/diagnóstico por imagen , Enfermedades en Gemelos/embriología , Ecoencefalografía , Ultrasonografía Prenatal , Desarrollo Infantil , Femenino , Muerte Fetal , Estudios de Seguimiento , Humanos , Recién Nacido , Imagen por Resonancia Magnética , Embarazo , Segundo Trimestre del Embarazo , Pronóstico , Estudios Retrospectivos , Gemelos MonocigóticosRESUMEN
OBJECTIVE: To investigate the effectiveness of a simplified approach to the evaluation of the midline structures of the fetal brain using three-dimensional (3D) ultrasound. METHODS: Sonographic examinations were performed in normal fetuses and in cases with anomalies involving the midline cerebral structures. Two-dimensional (2D) median planes were obtained by aligning the transducer with the anterior fontanelle and midline sutures by either transabdominal or transvaginal scans. Median planes were also reconstructed using 3D ultrasonography from volumes acquired from transabdominal axial planes of the fetal head (3D median planes), by either multiplanar analysis of static volumes or volume contrast imaging in the coronal plane (VCI-C). 2D and 3D median planes were compared qualitatively and quantitatively by measuring the corpus callosum and cerebellar vermis. RESULTS: 2D median planes could be visualized in 54/56 normal fetuses. 3D median planes were obtained in all, usually more easily and rapidly. There was a good correlation between 2D and 3D images. Measurements of the corpus callosum and cerebellar vermis were highly correlated, with mean variations of 6% and 14%, respectively. The abnormal group included 13 fetuses (five with partial or complete agenesis of the corpus callosum, six with posterior fossa malformations, two with a combination of these two anomalies). In all cases the diagnosis could be made by both 2D and 3D views and was always confirmed by postnatal investigation. Although 2D median views were of better quality, 3D images were always adequate for diagnosis, both in normal and abnormal fetuses. CONCLUSIONS: 3D median planes are obtained more easily than 2D ones, and allow an accurate diagnosis of normal cerebral anatomy and anomalies. The 3D approach may be valuable particularly for rapid assessment of fetal cerebral anatomy in standard examinations.