RESUMO
OBJECTIVES: Acute kidney injury (AKI) is a severe complication of prematurity, with currently unknown consequences for renal function in childhood. The objective of this study was to search for signs of reduced nephron number in children aged 3-10 years who had been born preterm with neonatal AKI and compare this group to control children. METHODS: IRENEO was a prospective, controlled study conducted in 2013 in Nantes University Hospital. Children who were born at less than 33 weeks gestational age (GA) and included in the LIFT cohort were eligible for entry. Twenty-five children with AKI (AKI-C) and 49 no-AKI children were matched on a propensity score of neonatal AKI and age. AKI was defined as a serum creatinine level higher than critical values: 1.6 mg/dl (GA 24-27 weeks), 1.1 mg/dl (28-29) and 1 mg/dl (GA 30-32). Renal function was evaluated during childhood. RESULTS: Mean age of the children at the time of the study was 6.6 years. No difference in microalbuminuria, estimated glomerular filtration rate (GFR) or pulse wave velocity was observed between the two groups. Renal volume was lower in the AKI-C group (57 vs. 68; p = 0.04). In the entire cohort, 10.8 % had a microalbuminuria, and 23 % had a diminished GFR (median 79 ml/min/1.73 m2). The GFR was lower in children with very low birth weight of <1000 g (99 vs. 107 ml/min/1.73 m2; p = 0.04). CONCLUSION: In children born preterm, neonatal AKI does not seem to influence renal function. However, independent ofAKI, a large proportion of very preterm infants, especially those with very low birth weight, presented with signs of nephron reduction, thus requiring follow-up with a nephrologist.
Assuntos
Injúria Renal Aguda/congênito , Injúria Renal Aguda/terapia , Doença Aguda , Injúria Renal Aguda/patologia , Estudos de Casos e Controles , Criança , Pré-Escolar , Creatinina/sangue , Feminino , Idade Gestacional , Taxa de Filtração Glomerular , Humanos , Recém-Nascido Prematuro , Recém-Nascido de muito Baixo Peso , Testes de Função Renal , Masculino , Néfrons/patologia , Pontuação de Propensão , Estudos Prospectivos , Resultado do TratamentoRESUMO
Patients with a submicroscopic deletion at 1q43q44 present with intellectual disability (ID), microcephaly, craniofacial anomalies, seizures, limb anomalies, and corpus callosum abnormalities. However, the precise relationship between most of deleted genes and the clinical features in these patients still remains unclear. We studied 11 unrelated patients with 1q44 microdeletion. We showed that the deletions occurred de novo in all patients for whom both parents' DNA was available (10/11). All patients presented with moderate to severe ID, seizures and non-specific craniofacial anomalies. By oligoarray-based comparative genomic hybridization (aCGH) covering the 1q44 region at a high resolution, we obtained a critical deleted region containing two coding genes-HNRNPU and FAM36A-and one non-coding gene-NCRNA00201. All three genes were expressed in different normal human tissues, including in human brain, with highest expression levels in the cerebellum. Mutational screening of the HNRNPU and FAM36A genes in 191 patients with unexplained isolated ID did not reveal any deleterious mutations while the NCRNA00201 non-coding gene was not analyzed. Nine of the 11 patients did not present with microcephaly or corpus callosum abnormalities and carried a small deletion containing HNRNPU, FAM36A, and NCRNA00201 but not AKT3 and ZNF238, two centromeric genes. These results suggest that HNRNPU, FAM36A, and NCRNA00201 are not major genes for microcephaly and corpus callosum abnormalities but are good candidates for ID and seizures.
Assuntos
Deleção Cromossômica , Cromossomos Humanos Par 1 , Ribonucleoproteínas Nucleares Heterogêneas Grupo U/genética , Deficiência Intelectual/genética , RNA não Traduzido/genética , Convulsões/genética , Pré-Escolar , Hibridização Genômica Comparativa , Fácies , Feminino , Perfilação da Expressão Gênica , Humanos , Lactente , Cariotipagem , Masculino , MutaçãoRESUMO
PURPOSE: To evaluate the accuracy of ultrasonography and magnetic resonance imaging (MRI) in the diagnosis of placenta accreta and to define the most relevant specific ultrasound and MRI features that may predict placental invasion. MATERIAL AND METHODS: This study was approved by the institutional review board of the French College of Obstetricians and Gynecologists. We retrospectively reviewed the medical records of all patients referred for suspected placenta accreta to two university hospitals from 01/2001 to 05/2012. Our study population included 42 pregnant women who had been investigated by both ultrasonography and MRI. Ultrasound images and MRI were blindly reassessed for each case by 2 raters in order to score features that predict abnormal placental invasion. RESULTS: Sensitivity in the diagnosis of placenta accreta was 100% with ultrasound and 76.9% for MRI (Pâ=â0.03). Specificity was 37.5% with ultrasonography and 50% for MRI (Pâ=â0.6). The features of greatest sensitivity on ultrasonography were intraplacental lacunae and loss of the normal retroplacental clear space. Increased vascularization in the uterine serosa-bladder wall interface and vascularization perpendicular to the uterine wall had the best positive predictive value (92%). At MRI, uterine bulging had the best positive predictive value (85%) and its combination with the presence of dark intraplacental bands on T2-weighted images improved the predictive value to 90%. CONCLUSION: Ultrasound imaging is the mainstay of screening for placenta accreta. MRI appears to be complementary to ultrasonography, especially when there are few ultrasound signs.
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Imageamento por Ressonância Magnética , Placenta Acreta/diagnóstico por imagem , Ultrassonografia Pré-Natal , Adulto , Feminino , Humanos , Placenta/irrigação sanguínea , Placenta/diagnóstico por imagem , Placenta/patologia , Placenta Acreta/patologia , Gravidez , Sensibilidade e Especificidade , Bexiga Urinária/diagnóstico por imagem , Útero/diagnóstico por imagemRESUMO
MRI is a useful tool to complement US for imaging of the fetal posterior fossa (PF). In France, the discovery of a PF malformation in the fetus frequently leads to termination of pregnancy (80% in a personal series). However, despite improved accuracy in the diagnosis of PF abnormalities, prognosis remains uncertain. The first objective of this review is to document the normal MRI landmarks of the developing fetal PF. Because of their thinness, the visibility of the cerebellar fissures is dramatically delayed on MRI compared to macroscopic data. An important landmark is identification of the primary fissure of the vermis, normally seen at around 25-26 weeks' gestation (WG) on the sagittal slice, separating the larger posterior lobe from the anterior lobe (volume ratio around 2:1). The prepyramidal and secondary fissures are usually only identifiable after 32 WG and the hemispheric fissures are difficult to see until the end of pregnancy. Considering the signal changes, high signal on T2-weighted (T2-W) sequences is seen from 25 WG in the posterior part of the brain stem (tegmentum and ascending sensory tracts) related to myelination. The low signal intensities seen within the cerebellum on T2-W images correspond to high cellularity of grey matter (deep nuclei), as there is no myelination within the white matter before 38 WG. The second objective is to highlight the signs highly predictive of a poor neurological prognosis. Lack of pontine curvature or vermian agenesis without a PF cyst (small volume of PF) is greatly associated with poor neurological status. The third objective is to propose a diagnostic strategy in difficult cases where prognosis is important, e.g. the Dandy Walker continuum. Analysis of the cerebellum is often impossible if a PF cyst is present (whatever its nature) as the mass effect usually blurs the foliation and even impairs evaluation of the normal ratio between the posterior and anterior lobes of the vermis. Isolated cerebellar hypoplasias raise the question of prognosis and genetic counselling. Such uncertainties require an amniocentesis and a careful search for other anomalies (cerebral and extracerebral). Unilateral abnormalities of a cerebellar hemisphere can be associated with good neurological status if they are isolated. The final objective is to discuss other rare PF fetal abnormalities, such as vascular malformations and tumours.
Assuntos
Fossa Craniana Posterior/anormalidades , Fossa Craniana Posterior/patologia , Imageamento por Ressonância Magnética/métodos , Fossa Craniana Posterior/embriologia , Feminino , Doenças Fetais/diagnóstico , Idade Gestacional , Humanos , Gravidez , PrognósticoRESUMO
UNLABELLED: Tetraplegia developed abruptly in an 11-y-old with pneumococcal meningitis. Magnetic resonance imaging showed multiple hyperintensities at the brainstem-spinal cord junction. Serological tests were positive for Mycoplasma pneumoniae (microparticle agglutination and specific IgMs). Erythromycin and dexamethasone were started promptly, and 10 d later the patient was discharged with normal neurological function. CONCLUSION: Tetraplegia during the course of pneumococcal meningitis in an 11-y-old girl disappeared after treatment with ceftriaxone, erythromycin and dexamethasone.
Assuntos
Meningites Bacterianas/microbiologia , Infecções Pneumocócicas/microbiologia , Pneumonia por Mycoplasma/microbiologia , Medula Espinal/fisiopatologia , Antibacterianos/uso terapêutico , Anti-Inflamatórios/uso terapêutico , Encéfalo/patologia , Criança , Dexametasona/uso terapêutico , Eritromicina/uso terapêutico , Feminino , Febre/diagnóstico , Febre/fisiopatologia , Humanos , Imageamento por Ressonância Magnética , Meningites Bacterianas/tratamento farmacológico , Meningites Bacterianas/fisiopatologia , Mycoplasma pneumoniae/isolamento & purificação , Infecções Pneumocócicas/tratamento farmacológico , Pneumonia por Mycoplasma/tratamento farmacológico , Streptococcus pneumoniae/isolamento & purificação , Resultado do TratamentoRESUMO
Brachmann-de Lange syndrome is a congenital disease characterized by severe mental retardation, pre- and postnatal symmetric growth delay, limb defects, visceral anomalies, hirsutism, and a typical face. The authors describe the prenatal sonographic pattern of Brachmann-de Lange syndrome suspected at 20 weeks of gestation, with severe intrauterine growth retardation, facial dysmorphism, cardiac abnormality, and micromelia without the typical defects of the upper limbs. Fetal karyotyping was normal. The diagnosis of a 'minor' form of Brachmann-de Lange syndrome was confirmed at 28 weeks of gestation by using three-dimensional sonography in order to assess precisely the facial dysmorphism and by performing a three-dimensional computed tomography of the upper limbs in order to identify the subtle abnormalities of the radial head and of the first metacarpal bone.
Assuntos
Síndrome de Cornélia de Lange/diagnóstico por imagem , Doenças Fetais/diagnóstico por imagem , Imageamento Tridimensional/métodos , Diagnóstico Pré-Natal/métodos , Adulto , Feminino , Humanos , Lactente , Masculino , Gravidez , Tomografia Computadorizada por Raios X/métodos , UltrassonografiaRESUMO
OBJECTIVE: To determine the MRI patterns of the gastrointestinal (GI) tract in normal fetuses and some GI tract abnormalities. MATERIALS AND METHODS: A retrospective (1996-1998) and prospective (1999-2000) study of 48 fetal abdominal MRI scans was performed between 23 and 38 weeks of gestation. T1-weighted (T1-W) fast gradient-echo (Flash 2D) and T2-weighted (T2-W) HASTE sequences were obtained on a 1.5-T unit, in frontal and sagittal planes, after maternal premedication. Fresh meconium was also studied. RESULTS: Normal patterns (40 cases): the rectum was seen in all cases and exhibited meconium-like high signal on T1-W images and low signal on T2-W images. It was close to the bladder whatever the fetal gender with its cul-de-sac being at least 10 mm below the bladder neck. The large bowel had a same signal; the distal colon was demonstrated more frequently than the proximal colon. The small bowel was transiently hyperintense on TI-W images early in gestation and then hyperintense on T2-W images. Normal measurements were obtained. GI tract abnormalities (eight cases): cysts close to normal bowel ( n=2), atresias ( n=5; microcolon, dilated small bowel with abnormal signal, one with a meconium cyst) and a cloacal malformation with midgut malrotation ( n=1; abnormal liquid signal in the rectum separated from the bladder wall and colon located on the left side). CONCLUSIONS: MRI provided complete visualisation of the fetal GI tract, showed specific signal intensities, identified the level of an obstruction, detected a microcolon, and demonstrated communication between urinary and GI tracts. It shows great potential.