RESUMO
PURPOSE: We correlate severe bowel damage in gastroschisis to the rare intrauterine event of narrowing of the abdominal wall around the protruding intestines. We describe this "closing gastroschisis" as a distinct entity. Prenatal ultrasound findings as gastric or bowel dilation were compared to the postnatal findings in order to find markers for an early in utero diagnosis of closing gastroschisis. Early diagnosis could prompt timely delivery to save the compromised bowel and avoid short gut syndrome. MATERIALS AND METHODS: We documented the pre- and postnatal course of our patients with gastroschisis from 2007 to 2009.â Closing gastroschisis was suspected antenatally and confirmed postnatally. We identified 5 out of 18 patients showing closure of the abdominal wall with varying degrees of bowel damage. Prenatal ultrasound findings were correlated to the postnatally confirmed extent of intestinal damage. RESULTS: We could not find consistent ultrasound markers for prenatal diagnosis of closing gastroschisis. In prenatal ultrasound three patients presented significant gastric dilation and then experienced severe courses postnatally due to segmental gut necrosis. One of these three died and the other two developed short gut syndrome. In one case progressive intraabdominal loop dilation with simultaneous shrinking of the extraabdominal loops occurred corresponding to closing gastroschisis with segmental midgut necrosis. CONCLUSION: Closing gastroschisis must be seen as a special form of gastroschisis. Extended intestinal damage is often life-threatening. In longitudinal observation dynamics of fetal ultrasound findings can lead to the diagnosis of closing gastroschisis. Progressive intraabdominal loop dilation is always highly suspicious and must lead to close follow-up and timely delivery.
Assuntos
Parede Abdominal/diagnóstico por imagem , Gastrosquise/diagnóstico por imagem , Gastrosquise/mortalidade , Intestinos/diagnóstico por imagem , Ultrassonografia Pré-Natal , Parede Abdominal/embriologia , Feminino , Seguimentos , Dilatação Gástrica/diagnóstico por imagem , Dilatação Gástrica/embriologia , Dilatação Gástrica/mortalidade , Gastrosquise/classificação , Gastrosquise/embriologia , Humanos , Lactente , Recém-Nascido , Atresia Intestinal/diagnóstico por imagem , Atresia Intestinal/embriologia , Atresia Intestinal/mortalidade , Atresia Intestinal/patologia , Intestinos/irrigação sanguínea , Intestinos/embriologia , Isquemia/diagnóstico por imagem , Isquemia/embriologia , Isquemia/mortalidade , Masculino , Necrose , Gravidez , Taxa de SobrevidaRESUMO
OBJECTIVE: The role of ischemia in collateral vessel development (arteriogenesis) is a contentious issue that cannot be addressed using mammalian models. To investigate this, we developed models of arteriogenesis using the zebrafish embryo, which gains sufficient oxygenation via diffusion to prevent ischemia in response to arterial occlusion. METHODS AND RESULTS: We studied gridlock mutant embryos that suffer a permanently occluded aorta and show that these restore aortic blood flow by collateral vessels. We phenocopied gridlock mutants by laser-induced proximal aortic occlusion in transgenic Fli1:eGFP/GATA1:dsRED embryos. Serial imaging showed these restore aortic blood flow via collateral vessels by recruitment of preexisting endothelium in a manner similar to gridlocks. Collateral aortic blood flow in gridlock mutants was dependent on both nitric oxide and myeloid cells. Confocal microscopy of transgenic gridlock/Fli1:eGFP mutants demonstrated no aberrant angiogenic response to the aortic occlusion. qPCR of HIF1alpha expression confirmed the absence of hypoxia in this model system. CONCLUSIONS: We conclude that NO and myeloid cell-dependent collateral vessel development is an evolutionarily ancient response to arterial occlusion and is able to proceed in the absence of ischemia.
Assuntos
Doenças da Aorta/fisiopatologia , Arteriopatias Oclusivas/fisiopatologia , Artérias/crescimento & desenvolvimento , Circulação Colateral , Isquemia/fisiopatologia , Neovascularização Fisiológica , Peixe-Zebra/embriologia , Animais , Animais Geneticamente Modificados , Doenças da Aorta/embriologia , Doenças da Aorta/genética , Doenças da Aorta/metabolismo , Arteriopatias Oclusivas/embriologia , Arteriopatias Oclusivas/genética , Arteriopatias Oclusivas/metabolismo , Artérias/embriologia , Artérias/metabolismo , Fatores de Transcrição Hélice-Alça-Hélice Básicos/genética , Fatores de Transcrição Hélice-Alça-Hélice Básicos/metabolismo , Hipóxia Celular , Modelos Animais de Doenças , Subunidade alfa do Fator 1 Induzível por Hipóxia/genética , Subunidade alfa do Fator 1 Induzível por Hipóxia/metabolismo , Isquemia/embriologia , Isquemia/genética , Isquemia/metabolismo , Microscopia Confocal , Mutação , Células Mieloides/metabolismo , Óxido Nítrico/metabolismo , Óxido Nítrico Sintase/metabolismo , Proteína Proto-Oncogênica c-fli-1/genética , Proteína Proto-Oncogênica c-fli-1/metabolismo , RNA Mensageiro/metabolismo , Fatores de Tempo , Peixe-Zebra/genética , Peixe-Zebra/metabolismo , Proteínas de Peixe-Zebra/genética , Proteínas de Peixe-Zebra/metabolismoRESUMO
The results of clinical and biochemical studies of 93 full-term neonatal infants with perinatal hypoxia-induced ischemic nervous system lesion are presented. Perinatal ischemia in the newborns has been found to cause an increase in the serum content of nitric oxide, more significant and stable in severe encephalopathy. The level of nitric oxide remained significantly elevated in the natural development of the disease in children with persistent neurological symptoms; its normalization was observed by the third month of life when the clinical syndromes regressed. The authors proposed to use the blood level of nitric oxide as a marker of acute cerebral ischemia and as an additional criterion for predicting the nervous and mental development of children with prior neonatal ischemia.
Assuntos
Encefalopatias/diagnóstico , Encéfalo/irrigação sanguínea , Hipóxia Fetal/sangue , Hipóxia Encefálica/diagnóstico , Isquemia/sangue , Nitritos/sangue , Biomarcadores/sangue , Encéfalo/embriologia , Encéfalo/crescimento & desenvolvimento , Encefalopatias/congênito , Encefalopatias/fisiopatologia , Desenvolvimento Infantil , Hipóxia Fetal/fisiopatologia , Humanos , Hipóxia Encefálica/congênito , Hipóxia Encefálica/fisiopatologia , Lactente , Recém-Nascido , Isquemia/embriologia , Isquemia/fisiopatologia , Valor Preditivo dos Testes , Prognóstico , Índice de Gravidade de DoençaAssuntos
Arritmias Cardíacas/diagnóstico , Isquemia/diagnóstico , Diagnóstico Pré-Natal , Taquicardia Supraventricular/diagnóstico , Adulto , Arritmias Cardíacas/embriologia , Arritmias Cardíacas/fisiopatologia , Eletroencefalografia , Evolução Fatal , Feminino , Idade Gestacional , Humanos , Recém-Nascido , Isquemia/embriologia , Isquemia/fisiopatologia , Gravidez , Taquicardia Supraventricular/embriologia , Taquicardia Supraventricular/fisiopatologia , Tomografia Computadorizada por Raios X , Ultrassonografia Pré-NatalRESUMO
OBJECTIVE: To discover the different underlying conditions in 2 fetuses suffering from temporary bowel ischaemia. METHODS: Abnormal bowel findings were detected using antenatal sonography. RESULTS: The abnormal bowel findings disappeared postnatally. Transient ischaemia of the fetal bowel due to different causes has been advocated antenatally to explain the abnormal findings. When a normal blood supply to the bowel has been restored, either in utero or after birth, the abnormal findings disappear. CONCLUSIONS: Whenever gut dilatation is detected in a fetus at risk of bowel ischaemia the possibility of a transient functional finding must be considered.
Assuntos
Intestinos/embriologia , Isquemia/embriologia , Isquemia/fisiopatologia , Recuperação de Função Fisiológica , Embrião de Mamíferos/irrigação sanguínea , Feminino , Humanos , Recém-Nascido , Isquemia/diagnóstico , Imageamento por Ressonância Magnética , Diagnóstico Pré-Natal , Ultrassonografia Pré-NatalRESUMO
OBJECTIVES: The purpose of our study was to examine the physiologic changes caused by 10 minutes of umbilical cord occlusion in fetal sheep and to determine the correlation between fetal acidemia or cerebral ischemia and hippocampal neuronal damage. STUDY DESIGN: Thirteen fetal sheep were instrumented and catheterized. Carotid artery blood flow (CaF), fetal mean arterial blood pressure (FMABP), pH, PCO (2), base excess, oxygen saturation (SatO(2)), and PO (2) were monitored throughout the occlusion study. Brain sections were examined for the hippocampal neuronal damage. RESULTS: Our data showed severe ischemia (CaF: 10 +/- 7 mL/min; FMABP: 29 +/- 8 mm Hg) and acidemia (pH: 7.0 +/- 0.05; base excess: -9.9 +/- 2.4 mEq/L) at the end of occlusion. The neuronal damage score had significant correlations with ischemia and also with reperfusion, but not with the acidemic or hypoxic parameters. CONCLUSION: We demonstrated that the degree of hippocampal damage was correlated with the degree of ischemia and reperfusion.
Assuntos
Arteriopatias Oclusivas/embriologia , Hipocampo/embriologia , Cordão Umbilical/irrigação sanguínea , Ácidos/sangue , Animais , Arteriopatias Oclusivas/complicações , Embrião de Mamíferos/patologia , Embrião de Mamíferos/fisiopatologia , Sangue Fetal , Doenças Fetais/patologia , Doenças Fetais/fisiopatologia , Hemodinâmica , Isquemia/embriologia , Isquemia/etiologia , Neurônios/patologia , Traumatismo por Reperfusão/embriologia , Ovinos/embriologiaRESUMO
We describe, to our knowledge, the first case of a pulmonary malformation called acinar dysplasia occurring at a surviving fetus after selective embryo reduction in a bichorionic pregnancy. The chronological and histological observations suggest that this anomaly may be linked with a feticide achieved at 13 week's gestation. Literature review concerning selective embryo reduction shows rare cases of vascular connections in bichorionic pregnancies especially during the first half of gestation, that can explain in part the apparition of survivor's anomalies.
Assuntos
Doenças em Gêmeos/etiologia , Isquemia/congênito , Pulmão/anormalidades , Pulmão/irrigação sanguínea , Redução de Gravidez Multifetal/efeitos adversos , Gêmeos , Adulto , Doenças em Gêmeos/diagnóstico , Doenças em Gêmeos/embriologia , Feminino , Fertilização in vitro , Aconselhamento Genético , Idade Gestacional , Humanos , Recém-Nascido , Infertilidade Feminina/terapia , Isquemia/diagnóstico , Isquemia/embriologia , Gravidez , Primeiro Trimestre da Gravidez , Sobreviventes , Ultrassonografia Pré-NatalRESUMO
Three distinct, maternal-independent routes (e.g. intraamniotic, intraperitoneal and intracerebral), for [1-13C]glucose utilization by fetal brain and liver tissues, were examined by multinuclear magnetic resonance (NMR) spectroscopy before and after vascular occlusion of the maternal-fetal blood flow. Labeled lactate was the major glycolytic product by all routes, but in addition labeled TCA cycle products were also generated. Fractional 13C enrichment in both glucose and lactate were always higher in the ischemic state compared to controls using either one of the three routes studied. After intraperitoneal injection total glucose in the fetal brain was decreased by 85% after 20 min reperfusion following 20 min ischemia, but was elevated up to 170% after 60 min. [1-13C]glucose increased continuously by up to 370% after 60 min. Total glucose in the fetal liver remained unchanged while [1-13C]glucose increased up to 380%. Total lactate level in brain was 50-80% above the control apart from a transient increase (140%) notable after 40 min reperfusion. The kinetics of [3-13C]lactate followed a similar time course. At the same time when lactate was transiently increased in fetal brain, total lactate as well as 13C-labeled lactate showed a transient decrease in liver after 40 min. While the ways of mobilization of energy substrates for maintaining adequate metabolic activity in the fetal brain remain still unclear, the present 13C NMR studies suggest that both liver glucose and lactate can contribute to brain metabolism particularly under ischemic stress.
Assuntos
Encéfalo/embriologia , Feto/metabolismo , Glucose/metabolismo , Isquemia/metabolismo , Fígado/embriologia , Trifosfato de Adenosina/metabolismo , Âmnio , Animais , Encéfalo/metabolismo , Isótopos de Carbono , Ciclo do Ácido Cítrico , Feminino , Feto/irrigação sanguínea , Feto/embriologia , Glucose/administração & dosagem , Hidrogênio , Injeções , Injeções Intraperitoneais , Isquemia/embriologia , Isótopos , Ácido Láctico/análise , Fígado/irrigação sanguínea , Fígado/metabolismo , Espectroscopia de Ressonância Magnética , Peritônio/embriologia , Isótopos de Fósforo , Gravidez , Ratos , Ratos WistarRESUMO
Möbius sequence consists of a congenital bilateral facial nerve palsy and external ophthalmoplegia often associated with malformations of the limbs and orofacial structures. The pathogenesis of the sequence is a subject of debate. However, a new hypothesis proposes that Möbius sequence results from an interruption of embryonic blood supply (subclavian artery supply disruption sequence). Here we present an infant with bilateral facial nerve palsy (VII), external ophthalmoplegia (IV, VI), paresis of cranial nerves V, IX, X, XI, and XII, absence of the pectoralis major muscle (Poland anomaly), terminal transverse limb defects, and absence of the right diaphragm. Also, he was found to have discrete foci of brainstem calcifications in the region of the dorsal respiratory group on both CT scan and the histologic sections with microscopic evidence of diffuse brainstem "injury." The anomalies and histopathology noted in this infant imply that vascular insufficiency prior to the sixth week of gestation involving the proximal sixth intersegmental artery may result in the manifestations presented in this report and lend further support for the existence of a subclavian artery supply disruption sequence.
Assuntos
Anormalidades Múltiplas/embriologia , Tronco Encefálico/anormalidades , Ectromelia/embriologia , Embrião de Mamíferos/irrigação sanguínea , Paralisia Facial/embriologia , Artéria Subclávia/anormalidades , Tronco Encefálico/irrigação sanguínea , Calcinose/embriologia , Doenças dos Nervos Cranianos/embriologia , Humanos , Recém-Nascido , Isquemia/embriologia , Isquemia/etiologia , Masculino , Oftalmoplegia/embriologia , Síndrome de Poland/embriologia , Insuficiência Respiratória/embriologia , Sindactilia/embriologia , SíndromeRESUMO
A hypothesis is presented to explain the pathogenesis of the Poland, Klippel-Feil, and Möbius anomalies, isolated absence of the pectoralis major with breast hypoplasia, isolated terminal transverse limb defects, and the Sprengel anomaly. We propose that these conditions are the result of an interruption of the early embryonic blood supply in the subclavian arteries, the vertebral arteries and/or their branches, and hypothesize that the occlusions occur at specific locations in these vessels during or around the sixth week of embryologic development and produce predictable patterns of defects. The term subclavian artery supply disruption sequence (SASDS) is suggested for the group of birth defects represented by the above conditions. Possible causes for interruption of embryonic blood supply are discussed.
Assuntos
Nervos Cranianos/anormalidades , Síndrome de Klippel-Feil/embriologia , Síndrome de Poland/embriologia , Artéria Subclávia/anormalidades , Sindactilia/embriologia , Nervos Cranianos/embriologia , Humanos , Isquemia/embriologia , Isquemia/etiologia , Modelos Biológicos , Escápula/anormalidades , Escápula/embriologia , Artéria Subclávia/embriologiaRESUMO
Gastroschisis was investigated experimentally as well as clinically. An experimental model developed in the chick embryo demonstrated that the characteristic picture of gastroschisis evolved only if the herniated bowel was exposed to urine components in the allantoic fluid. Remarkable similarities were revealed on comparing changes in human amniotic fluid composition (from 30th week) with changes in chicken allantoic fluid composition (from 15th day of incubation). These changes correlate with progressive fibrotic coating of the exposed bowel loops leading to the characteristic picture of gastroschisis. No fibrous coating was found in human foetuses with a gestational age under 30 weeks, while investigation of these foetuses did confirm that gastroschisis itself occurs at an early developmental stage (6th-8th week). No primary structural defects were found in the nervous system of the bowel wall neither in the experimental gastroschisis model nor in the human cases investigated. The postoperative delay in intestinal motility affecting some gastroschisis patients was found to be secondary to multifocal ischaemic damage of the bowel wall.
Assuntos
Músculos Abdominais/anormalidades , Músculos Abdominais/embriologia , Animais , Embrião de Galinha , Feminino , Motilidade Gastrointestinal , Idade Gestacional , Humanos , Atresia Intestinal/embriologia , Intestinos/irrigação sanguínea , Intestinos/inervação , Isquemia/embriologia , GravidezRESUMO
Malformations of the intestinal tube were studied in 220 infants and in 15 human embryos. Comparison with data in the literature allowed that atresias, stenoses and duplications of the gastrointestinal tract result from some primary morphogenetic disturbance in early gestation more often than from a failure of recanalization, interference with blood supply in fetal life, or from enteritis or peritonitis. This is based on the association of these defects with chromosomal abnormalities (trisomies, partial monosomies, etc); association with malformations which cannot be explained by secondary lesions; the finding of oesophageal stenosis in 6 week-old embryo prior to the stage of epithelial proliferation; the lack of vascular disturbance in cases of the "apple-peel" syndrome and persistence of intramural ganglia in affected segments of bowel.