RESUMO
OBJECTIVES: In fetuses with isolated left-sided congenital diaphragmatic hernia (LCDH), prenatal detection of severe pulmonary hypoplasia is important, as fetal therapy can improve survival. Cases with mild or moderate lung hypoplasia still carry a considerable risk of mortality and morbidity, but there has been less interest in the accurate prediction of outcome in these cases. In this study of fetuses with mild or moderate isolated LCDH, we aimed to investigate: (1) the association between intrapulmonary artery (IPA) Doppler findings and mortality at discharge; (2) whether adding IPA Doppler findings improves the prediction of mortality based on lung size and liver herniation; and (3) the association between IPA Doppler findings and early neonatal morbidity. METHODS: This was a retrospective study of all consecutive fetuses assessed at the BCNatal and UZ Leuven hospitals between 2008 and 2020 with a prenatal diagnosis of isolated, non-severe LCDH, defined as observed-to-expected lung-to-head ratio (o/e-LHR) > 25%, that were managed expectantly during pregnancy followed by standardized neonatal management. An additional inclusion criterion was the availability of IPA Doppler measurements. The primary outcome was the association between IPA Doppler findings and mortality at discharge. Other predictors included o/e-LHR, liver herniation and gestational age at birth. Secondary outcomes were the association between IPA Doppler findings and the presence of pulmonary hypertension (PHT), need for supplemental oxygen at discharge and need for extracorporeal membrane oxygenation. IPA pulsatility index (PI) values were converted into Z-scores. Logistic regression analysis was performed to investigate the associations between predictor variables and outcome, and the best model was chosen based on the Nagelkerke R2 . RESULTS: Observations for 70 non-severe LCDH cases were available. Fifty-four (77%) fetuses survived until discharge. On logistic regression analysis, higher IPA-PI was associated with an increased risk of mortality (odds ratio (OR), 3.96 (95% CI, 1.62-9.70)), independently of o/e-LHR (OR, 0.87 (95% CI, 0.79-0.97)). An IPA-PI Z-score cut-off of 1.8 predicted mortality with a detection rate of 69% and specificity of 93%. Adding IPA-PI to o/e-LHR improved significantly the model's performance (Nagelkerke R2 , 46% for o/e-LHR + IPA-PI vs 28% for o/e-LHR (P < 0.002)), with a detection rate of 81% at a 10% false-positive rate. IPA-PI was associated with PHT (OR, 2.20 (95% CI, 1.01-4.59)) and need for oxygen supplementation at discharge (OR, 1.90 (95% CI, 1.10-3.40)), independently of lung size. CONCLUSIONS: In fetuses with mild or moderate LCDH, IPA-PI was associated with mortality and morbidity, independently of lung size. A model combining o/e-LHR with IPA-PI identified up to four in five cases that eventually died, despite being considered to have non-severe pulmonary hypoplasia. © 2021 International Society of Ultrasound in Obstetrics and Gynecology.
Assuntos
Doenças Fetais/mortalidade , Hérnias Diafragmáticas Congênitas/mortalidade , Artéria Pulmonar/diagnóstico por imagem , Ultrassonografia Doppler/estatística & dados numéricos , Ultrassonografia Pré-Natal/estatística & dados numéricos , Oxigenação por Membrana Extracorpórea/estatística & dados numéricos , Feminino , Doenças Fetais/diagnóstico por imagem , Feto/diagnóstico por imagem , Feto/embriologia , Feto/patologia , Cabeça/diagnóstico por imagem , Cabeça/embriologia , Cabeça/patologia , Hérnias Diafragmáticas Congênitas/diagnóstico por imagem , Hérnias Diafragmáticas Congênitas/embriologia , Humanos , Hipertensão Pulmonar/congênito , Hipertensão Pulmonar/diagnóstico por imagem , Hipertensão Pulmonar/embriologia , Recém-Nascido , Modelos Logísticos , Pulmão/diagnóstico por imagem , Pulmão/embriologia , Pulmão/patologia , Morbidade , Razão de Chances , Valor Preditivo dos Testes , Gravidez , Artéria Pulmonar/embriologia , Fluxo Pulsátil , Estudos RetrospectivosRESUMO
OBJECTIVE: To evaluate the neonatal outcome of fetuses with isolated right-sided congenital diaphragmatic hernia (iRCDH) based on prenatal severity indicators and antenatal management. METHODS: This was a retrospective review of prospectively collected data on consecutive cases diagnosed with iRCDH before 30 weeks' gestation in four fetal therapy centers, between January 2008 and December 2018. Data on prenatal severity assessment, antenatal management and perinatal outcome were retrieved. Univariate and multivariate logistic regression analysis were used to identify predictors of survival at discharge and early neonatal morbidity. RESULTS: Of 265 patients assessed during the study period, we excluded 40 (15%) who underwent termination of pregnancy, two cases of unexplained fetal death, two that were lost to follow-up, one for which antenatal assessment of lung hypoplasia was not available and six cases which were found to have major associated anomalies or syndromes after birth. Of the 214 fetuses with iRCDH included in the neonatal outcome analysis, 86 were managed expectantly during pregnancy and 128 underwent fetal endoscopic tracheal occlusion (FETO) with a balloon. In the expectant-management group, lung size measured by ultrasound or by magnetic resonance imaging was the only independent predictor of survival (observed-to-expected lung-to-head ratio (o/e-LHR) odds ratio (OR), 1.06 (95% CI, 1.02-1.11); P = 0.003). Until now, stratification for severe lung hypoplasia has been based on an o/e-LHR cut-off of 45%. In cases managed expectantly, the survival rate was 15% (4/27) in those with o/e-LHR ≤ 45% and 61% (36/59) for o/e-LHR > 45% (P = 0.001). However, the best o/e-LHR cut-off for the prediction of survival at discharge was 50%, with a sensitivity of 78% and specificity of 72%. In the expectantly managed group, survivors with severe pulmonary hypoplasia stayed longer in the neonatal intensive care unit than did those with mildly hypoplastic lungs. In fetuses with an o/e-LHR ≤ 45% treated with FETO, survival rate was higher than in those with similar lung size managed expectantly (49/120 (41%) vs 4/27 (15%); P = 0.014), despite higher prematurity rates (gestational age at birth: 34.4 ± 2.7 weeks vs 36.8 ± 3.0 weeks; P < 0.0001). In fetuses treated with FETO, gestational age at birth was the only predictor of survival (OR, 1.25 (95% CI, 1.04-1.50); P = 0.02). CONCLUSIONS: Antenatal measurement of lung size can predict survival in iRCDH. In fetuses with severe lung hypoplasia, FETO was associated with a significant increase in survival without an associated increase in neonatal morbidity. © 2020 International Society of Ultrasound in Obstetrics and Gynecology.
Assuntos
Oclusão com Balão/estatística & dados numéricos , Fetoscopia/estatística & dados numéricos , Hérnias Diafragmáticas Congênitas/diagnóstico por imagem , Hérnias Diafragmáticas Congênitas/embriologia , Ultrassonografia Pré-Natal/estatística & dados numéricos , Adulto , Oclusão com Balão/métodos , Feminino , Fetoscopia/métodos , Idade Gestacional , Hérnias Diafragmáticas Congênitas/cirurgia , Humanos , Recém-Nascido , Modelos Logísticos , Pulmão/diagnóstico por imagem , Pulmão/embriologia , Imageamento por Ressonância Magnética/estatística & dados numéricos , Valor Preditivo dos Testes , Gravidez , Resultado da Gravidez/epidemiologia , Estudos Prospectivos , Estudos Retrospectivos , Taxa de Sobrevida , Traqueia/embriologia , Traqueia/cirurgia , Resultado do Tratamento , Conduta Expectante/estatística & dados numéricosRESUMO
OBJECTIVES: In gastroschisis pregnancies, a) to correlate prenatal ultrasound variables with postnatal outcome and b) to determine the ideal time for setting the delivery in order to achieve the best neonatal outcome. MATERIAL AND METHODS: Retrospective review (2000-2015) of all available gastroschisis whose prenatal findings could be correlated with the neonatal outcome. Two study groups have been defined according to the complications present after birth: favorable gastrosquisis and complicated. Prenatal variables were compared by groups using McWhitney or Chi tests as needed. RESULTS: Twenty-two gastroschisis fulfilled the requirement. Twelve cases had uneventful outcomes. Ten patients experienced complications, including death in five. In the complicated group there were 15 episodes of sepsis and 17 reoperations. Any single ultrasound parameter could predict a bad follow up. In thirteen cases, delivery was forced due to sudden changes on ultrasound bowel appearance. Nine of these patients had very good neonatal outcome. CONCLUSIONS: Finishing pregnancy when sudden changes on the fetal bowel were identified was the only strategy that leaded us to diminish the complication rate in gastroschisis.
OBJETIVOS: En las gestaciones con gastrosquisis, a) valorar la presencia de algún dato ecográfico prenatal que pueda predecir la evolución postnatal de la gastrosquisis, y b) determinar el momento ideal del nacimiento de los pacientes con gastrosquisis que se relacione con una mejor evolución postnatal. MATERIAL Y METODOS: Revisión retrospectiva (2000-2015) de las gastrosquisis cuyos datos ecográficos prenatales hemos podido relacionar con las características de los pacientes y su evolución clínica posterior. Se han determinado dos grupos en función de la evolución favorable o complicada de la gastrosquisis. Todas las variables ecográficas prenatales se han comparado entre grupos según los test de McWitney o Chi cuadrado. RESULTADOS: Veintidós gastrosquisis cumplieron el requisito anterior. Doce casos tuvieron una evolución sin incidencias significativas. Diez pacientes tuvieron una evolución complicada, de los cuales cinco fueron exitus. En este grupo hubo 15 episodios de sepsis y 17 reintervenciones. Ningún parámetro ecográfico prenatal predijo con fiabilidad una evolución desfavorable. En 13 casos se finalizó la gestación porque aparecieron cambios súbitos en la ecografía. Nueve de estos pacientes evolucionaron sin ninguna complicación. CONCLUSIONES: Terminar la gestación cuando se produce un cambio súbito de la apariencia ecográfica de los intestinos fetales es la única estrategia que nos ha permitido disminuir la incidencia de complicaciones en los pacientes con gastrosquisis.
Assuntos
Doenças Fetais/diagnóstico por imagem , Gastrosquise/diagnóstico por imagem , Resultado da Gravidez , Ultrassonografia Pré-Natal/métodos , Parto Obstétrico/estatística & dados numéricos , Feminino , Seguimentos , Humanos , Recém-Nascido , Masculino , Gravidez , Reoperação/estatística & dados numéricos , Estudos Retrospectivos , Sepse/epidemiologia , Fatores de TempoRESUMO
Objetivos. En las gestaciones con gastrosquisis, a) valorar la presencia de algún dato ecográfico prenatal que pueda predecir la evolución postnatal de la gastrosquisis, y b) determinar el momento ideal del nacimiento de los pacientes con gastrosquisis que se relacione con una mejor evolución postnatal. Material y métodos. Revisión retrospectiva (2000-2015) de las gastrosquisis cuyos datos ecográficos prenatales hemos podido relacionar con las características de los pacientes y su evolución clínica posterior. Se han determinado dos grupos en función de la evolución favorable o complicada de la gastrosquisis. Todas las variables ecográficas prenatales se han comparado entre grupos según los test de McWitney o Chi cuadrado. Resultados. Veintidós gastrosquisis cumplieron el requisito anterior. Doce casos tuvieron una evolución sin incidencias significativas. Diez pacientes tuvieron una evolución complicada, de los cuales cinco fueron exitus. En este grupo hubo 15 episodios de sepsis y 17 reintervenciones. Ningún parámetro ecográfico prenatal predijo con fiabilidad una evolución desfavorable. En 13 casos se finalizó la gestación porque aparecieron cambios súbitos en la ecografía. Nueve de estos pacientes evolucionaron sin ninguna complicación. Conclusiones. Terminar la gestación cuando se produce un cambio súbito de la apariencia ecográfica de los intestinos fetales es la única estrategia que nos ha permitido disminuir la incidencia de complicaciones en los pacientes con gastrosquisis (AU)
Objectives. In gastroschisis pregnancies, a) to correlate prenatal ultrasound variables with postnatal outcome and b) to determine the ideal time for setting the delivery in order to achieve the best neonatal outcome. Material and methods. Retrospective review (2000-2015) of all available gastroschisis whose prenatal findings could be correlated with the neonatal outcome. Two study groups have been defined according to the complications present after birth: favorable gastrosquisis and complicated. Prenatal variables were compared by groups using McWhitney or Chi tests as needed. Results. Twenty-two gastroschisis fulfilled the requirement. Twelve cases had uneventful outcomes. Ten patients experienced complications, including death in five. In the complicated group there were 15 episodes of sepsis and 17 reoperations. Any single ultrasound parameter could predict a bad follow up. In thirteen cases, delivery was forced due to sudden changes on ultrasound bowel appearance. Nine of these patients had very good neonatal outcome. Conclusions. Finishing pregnancy when sudden changes on the fetal bowel were identified was the only strategy that leaded us to diminish the complication rate in gastroschisis (AU)
Assuntos
Humanos , Gastrosquise/cirurgia , Ultrassonografia Pré-Natal , Estudos Retrospectivos , Cuidado Pré-Natal/métodos , Tomada de Decisões , Reoperação/estatística & dados numéricos , Complicações Pós-Operatórias/epidemiologia , Complicações na GravidezRESUMO
CASE REPORT: A 13-year-old boy presented with right eye proptosis and lateral dystopia. A soft non-pulsatile mass was found in the superomedial orbital region. An excisional biopsy was performed, for which the histopathology reported an epithelioid haemangioendothelioma. DISCUSSION: Haemangioendothelioma is a borderline vascular lesion within the spectrum of clinically benign and malignant tumours. These can arise from soft tissue or bone. There are few reports of these tumours located in the orbit.
Assuntos
Hemangioendotelioma Epitelioide , Neoplasias Orbitárias , Adolescente , Hemangioendotelioma Epitelioide/diagnóstico , Hemangioendotelioma Epitelioide/cirurgia , Humanos , Masculino , Neoplasias Orbitárias/diagnóstico , Neoplasias Orbitárias/cirurgiaRESUMO
CASE REPORT: The case is presented of a 46-year-old male with right eye proptosis and conjunctival hyperaemia, of 18 months onset. A well-defined intraconal mass was found in the computed tomography. In magnetic resonance this was hypo-intense on T1, enhanced with gadolinium and hyperintense on T2. Excisional biopsy was performed, which was reported as a well-differentiated liposarcoma in the histopathology study. DISCUSSION: Liposarcoma is a malignant adipose tissue tumour. It is very rare in the orbit, with 5 histological types, the most common being myxoid. The treatment of choice is wide surgical excision and may be accompanied with radiotherapy. As it is an infiltrative tumour, It has a high rate of recurrence.
Assuntos
Lipossarcoma/diagnóstico por imagem , Imageamento por Ressonância Magnética , Neoplasias Orbitárias/diagnóstico por imagem , Tomografia Computadorizada por Raios X , Biópsia , Terapia Combinada , Meios de Contraste , Evisceração do Olho , Gadolínio , Humanos , Lipossarcoma/patologia , Lipossarcoma/radioterapia , Lipossarcoma/cirurgia , Masculino , Pessoa de Meia-Idade , Neoplasias Orbitárias/patologia , Neoplasias Orbitárias/radioterapia , Neoplasias Orbitárias/cirurgia , Radioterapia AdjuvanteRESUMO
INTRODUCTION: Mobius syndrome is characterized by damage in the nucleus of the sixth and seventh cranial nerves, with subsequent facial palsy and abduction limitation of the eyes. The aim of this article is to describe the ophthalmological findings of the Mobius syndrome in Mexican children. PATIENTS AND METHODS: A cross-sectional, retrospective, observational and descriptive study was conducted. A review was made of the clinical charts of patients with Mobius syndrome who were seen in the National Institute of Pediatrics in Mexico, between the years 2000 and 2010. RESULTS: A total of 64 charts were reviewed. The most important findings were eye abduction limitation (100%), facial palsy (100%), esotropia (54%), epicanthus (51.5%), entropion (22%), and history of use of abortion inducers in the mother in the first trimester of pregnancy (28%). We also found exotropia and hypertropia in some cases. CONCLUSIONS: Mobius syndrome has a wide spectrum of ophthalmological manifestations that are important to detect early in order to improve function and esthetics.
Assuntos
Oftalmopatias/etiologia , Síndrome de Möbius/complicações , Síndrome de Möbius/diagnóstico , Criança , Pré-Escolar , Estudos Transversais , Feminino , Humanos , Lactente , Masculino , Estudos RetrospectivosRESUMO
CASE REPORT: A 5-year-old male presented with bilateral poor vision, esotropia and a previous diagnosis of cataract since he was 1 year old. The physical examination revealed bilateral posterior paracentric capsule opacification, vitreous cavity with a permeable pulsatile blood filled hyaloid artery in both eyes. He was kept under observation. DISCUSSION: Persistent hyaloid artery is an uncommon faulty primary vitreous regression, often unilateral (although it may be bilateral) and sporadic, associated with microphthalmos. It may be complicated with glaucoma and phthisis bulbi. Vitrectomy plus lensectomy or simple observation are the accepted treatment options.
Assuntos
Artéria Oftálmica/anormalidades , Ambliopia/complicações , Atrofia , Catarata/etiologia , Varicela , Pré-Escolar , Esotropia/complicações , Feminino , Humanos , Masculino , Gravidez , Complicações Infecciosas na Gravidez , Epitélio Pigmentado da Retina/patologia , Baixa Visão/etiologia , Hemorragia Vítrea/prevenção & controle , Conduta ExpectanteRESUMO
The aim of this study was to investigate the possible association between interleukin (IL)-1A (+4845) and/or IL-1B (+3954) gene polymorphisms and the onset and progression of chronic periodontal disease (PD), an issue that remains controversial. The relationship between IL-1ß concentration in the gingival crevicular fluid (GCF) and disease activity was also evaluated. The study was performed on 25 individuals with no gingivitis or PD and on 25 subjects with active chronic PD. Two samples of GCF were obtained from each subject and IL-1ß was determined by enzyme-linked immunoabsorbent assay. Blood samples (10 ml) were drawn from each subject to detect polymorphisms in IL-1A (+4845) and IL-1B (+3954) by polymerase chain reaction. Mean GCF IL-1ß concentrations were higher in patients with active chronic PD compared to the control group. No significant association was found in either group between GCF IL-1ß concentration and the presence of polymorphisms in IL-1A (+4845), IL-1B (+3954) or both genotypes. No significant difference was found in either group with regard to the presence of polymorphisms in IL-1A (+4845), IL-1B (+3954) or both genotypes (p=0.556). The concentration of IL-1ß in GCF was almost 2-fold higher in patients with chronic PD than in the healthy individuals. The presence of polymorphisms in IL-1A (+4845) and/or IL-1B (+3954) genotypes is not associated with IL-1ß overproduction in GCF and is not a risk factor for chronic PD. IL-1ß is considered a suitable marker of the severity and progression of chronic PD. The presence of IL-1A (+4845) and/or IL-1B +3954 gene polymorphisms does not appear to be a risk factor for chronic PD. Therefore, the IL-1A (+4845) and/or IL-1B +3954 gene polymorphisms cannot be considered genetic markers of chronic PD. Moreover, these polymorphisms do not indicate an overproduction of IL-1ß in GCF.
Assuntos
Interleucina-1alfa/genética , Interleucina-1alfa/metabolismo , Interleucina-1beta/genética , Interleucina-1beta/metabolismo , Doenças Periodontais/genética , Doenças Periodontais/metabolismo , Polimorfismo Genético , Adulto , Doença Crônica , Feminino , Humanos , Masculino , Pessoa de Meia-Idade , Fatores de Risco , EspanhaRESUMO
Actualmente, la membrana de oxigenación extracorpórea (ECMO)constituye el último eslabón en la terapéutica del manejo del fallo respiratorio en pacientes con hernia diafragmática congénita (HDC). Presentamos nuestra experiencia. Desde enero de 2001 disponemos en UCI- neonatal de ECMO. De76 HDC, 13 (3 derechas y 10 izquierdas) han precisado ECMO (uno en dos ocasiones; en total 14 procedimientos). Criterios de inclusión: hipoxemia refractaria, índice de oxigenación > 40 y peso > de 2 kg. 5 niñas y 8 niños con edad gestacional entre 35 y 41 semanas (media:38) y peso al nacer entre 2.300 y 3.500 gramos (media 2.817). En 6casos (5 trasladados desde otros centros), el diagnóstico fue posnatal. De los 7 con diagnóstico prenatal, en 4 casos se había realizado terapiafetal mediante oclusión traqueal. Procedimiento veno-venoso en 8 y veno-arterial en 5. Rango de duración: 68-606 horas, media de 228,35. La cirugía se ha realizado antes de la ECMO en 9 casos, 2 durante y 1 después. En una ocasión (..) (AU)
At the moment the extracorporeal membrane oxygenation (ECMO)constitutes the last link in the therapeutic one of the handling of the respiratory failure in patients with Congenital Diaphragmatic Hernia (HDC).We presented our experience. From January 2001 we arrange the ECMO in neonative UCI. 76HDC, 13 (3 rights and 10 lefts) they have needed ECMO (one in two occasions; altogether 14 procedures). Criteria of inclusion: refractory hypoxaemia, oxigenaction index > 40 and weight > 2 kg. 5 girls and 8 boys with gestacional age between 35 and 41 weeks(average: 38) and weight when being born between 2,300 and 3,500grams (average 2,817). In 6 cases (5 transferred from other centers) the diagnosis was posnatal. Of the 7 with prenatal diagnosis, in 4 cases fetal therapy by means of traqueal occlusion had been made. Veno-venous in 8 and veno-arterial procedure in 5. Rank of duration: 68-606 hours, average of 228.35. The surgery has been made before the ECMO in 9 cases, 2 during and 1 later. In an occasion there was no (..) (AU)
Assuntos
Humanos , Hérnia Diafragmática/terapia , Oxigenação por Membrana Extracorpórea/métodos , Insuficiência Respiratória/terapia , Diagnóstico Pré-Natal/métodos , Hérnia Diafragmática/congênitoRESUMO
At the moment the extracorporeal membrane oxygenation (ECMO) constitutes the last link in the therapeutic one of the handling of the respiratory failure in patients with Congenital Diaphragmatic Hernia (HDC). We presented our experience. From January 2001 we arrange the ECMO in neonative UCI. 76 HDC, 13 (3 rights and 10 lefts) they have needed ECMO (one in two occasions; altogether 14 procedures). Criteria of inclusion: refractory hypoxaemia, oxigenaction index > 40 and weight > 2 kg. 5 girls and 8 boys with gestacional age between 35 and 41 weeks (average: 38) and weight when being born between 2,300 and 3,500 grams (average 2,817). In 6 cases (5 transferred from other centers) the diagnosis was posnatal. Of the 7 with prenatal diagnosis, in 4 cases fetal therapy by means of traqueal occlusion had been made. Veno-venous in 8 and veno-arterial procedure in 5. Rank of duration: 68-606 hours, average of 228.35. The surgery has been made before the ECMO in 9 cases, 2 during and 1 later. In an occasion there was no surgery. The complications have been of hemorrágico type in one patient and infectious in three cases with sudden sepsis in one. Precocious mortality has been of 6 patients and delayed the 2 (total 61%). Although this procedure has the high morbi-mortality, it is necessary to consider that is patients very badly prognosis without another alternative (with mortality of the 100%). Multicentric studies are needed to establish indicators prognoses pre and postbirthdays.
Assuntos
Oxigenação por Membrana Extracorpórea , Hérnias Diafragmáticas Congênitas , Feminino , Hérnia Diafragmática/terapia , Humanos , Recém-Nascido , MasculinoRESUMO
El síndrome de pterigión poplíteo (SPP) es una enfermedad poco frecuente de origen genético. En la mayoría de los casos el patrón de herencia es autosómico dominante, con penetrancia incompleta y expresividad variable, aunque pueden presentarse mutaciones de novo. Los defectos son típicos y generalmente afectan al área de ORL y las extremidades inferiores. El caso clínico presenta unos gemelos monocoriales con SPP y sus familiares no presentaban malformaciones similares. El estudio genético mostró una sustitución en el gen que codifica el interferón regulador del factor 6 (IRF6)(posición c.G251A) en uno de los lactantes
Popliteal pterygium syndrome (PPS) is a rare disorder of genetic origin. In most cases, it has an autosomal dominant in heritance pattern, with incomplete penetrance and variable expressivity, although de novo mutations can exist. The clinical features are typical and they generally affect the ear, nose and throat (ENT) region and the lower extremities. The case reported here involves monochorionic twins with PPS whose relatives had no similar malformations. The genetic study showed a substitution in the gene that encodes interferon regulatory factor-6 (IRF6) (at position c.G251A) in one of the infants
Assuntos
Recém-Nascido , Humanos , Fenda Labial/genética , Fissura Palatina/genética , Calcanhar/anormalidades , Úvula/anormalidades , Doenças em Gêmeos/genética , Anormalidades Múltiplas/genética , Gêmeos MonozigóticosRESUMO
Introducción: La artrogriposis múltiple congénita (AMC) es unsíndrome caracterizado por contracturas congénitas no progresivas de dos o más articulaciones. La forma clásica de AMC llamada amioplasia es siempre esporádica. En la artrogriposis neurógena, la forma más frecuente (90%), la afectación inicial se encuentra en las neuronas del asta anterior de la médula, las raíces nerviosas o el nervio periférico. Casos clínicos: Se exponen dos casos de recién nacidos que desarrollaron una clínica similar de amioplasia. El primer niño tenía contracturas articulares, atrofia de los músculos de las extremidades inferiores e incontinencia. El segundo niño presentó paraplejía fláccida con atrofia muscular y atonía muscular abdominal. Las dos madres eran consumidoras de cocaína durante el embarazo. En ambos pacientes los exámenes neurofisiológicos demostraron una denervación a diferentes niveles de la médula espinal. Discusión: Se ha postulado como causa de amioplasia congénita una necrosis de la médula espinal fetal debida a hipotensión sistémica. En adultos se han descrito casos de episodio cerebrovascular relacionados con el consumo de cocaína. Probablemente, los mecanismos están relacionados con la estimulación adrenérgica, la vasoconstricción cerebral y cambios bruscos en la presión arterial. En ambos casos las características clínicas descritas al nacer fueron debidas a denervación de la médula espinal a diferentes niveles. Los defectos encontrados en nuestros pacientes podrían estar asociados a consumo materno de cocaína durante el embarazo, que produciría vasoconstricción del pequeño lecho vascular eisquemia-infarto por alteración vascular en la médula espinal del feto
Introduction: Arthrogryposis multiplex congenita (AMC) is a term used to describe a disorder characterized by multiple, nonprogressive joint contractures at birth. The classic form of peripheral AMC, referred to as amyoplasia, is always sporadic. In neurogenic arthrogryposis, the most frequent form (90%), the initial injury would be in the anterior horm cells of the spinal cord, the nerve roots or the peripheral nerve. Case reports: We report the cases of two newborns who presented similar clinical signs of amyoplasia. One had joint contractures, muscle atrophy and incontinence. The other has flaccid paraplegia with muscle atrophy in lower limbs and abdominal muscle atony. Both mothers consumed cocaine during pregnancy. In both patients, neurophysiological examination demonstrated denervation at different levels of spinal cord. Discussion: Necrosis of the fetal spinal cord caused by systemic hypotension has been postulated as a cause of amyoplasia. The mechanism of cocaine-related cerebrovascular accidents in adults is probably related to adrenergic stimulation, cerebral vasoconstriction adna a sudden surge in blood pressure. In our two cases, the clinical findings reported at birth were due to denervation at different levels of the spinal cord. Therefore, the defects in our patients may be associated with maternal use of cocaine during pregnancy, producing small vessel vasoconstriction and vascular disruption in the fetal spinal cord
Assuntos
Masculino , Recém-Nascido , Humanos , Artrogripose/induzido quimicamente , Transtornos Relacionados ao Uso de Cocaína/diagnóstico , Medula Espinal , Cocaína/efeitos adversosRESUMO
El propósito de esta revisión es describir el papel que desempeña el polimorfismo de los genes de la IL-1 en la aparición y evolución de la enfermedad periodontal. A lo largo de ella, se observa una falta de homogeneidad en los resultados obtenidos por los diferentes autores. Incluso los estudios más recientes tienden a desestimar la relación que pudiera existir entre la presencia de polimorfismos en los genes de la IL-1 y la enfermedad periodontal. De igual manera, la presencia de estos polimorfismos parece no influir en el fracaso implantario ni en las técnicas de regeneración tisular guiada (AU)
The aim of this bibliographic review is describing the role of the polymorphism in IL-1 genes in the appearance and evolution of the periodontal disease. Through the review, its observed a lack of homogeneity in the results obtained by different authors. Despite of this, more recent articles tend to have a low opinion of the relationship that could exist between the presence of polymorphism in IL-1 genes and periodontal disease. In the same way, the presence of theses polymorphisms seems not to influence in the implant failure nor in the guided tissue regeneration techniques (AU)
Assuntos
Adulto , Humanos , Interleucina-1/sangue , Interleucina-1/genética , Doenças Periodontais/etiologia , Doenças Periodontais/genética , Doenças Periodontais/patologia , Gengivite/etiologia , Gengivite/genética , Gengivite/metabolismo , Polimorfismo Genético/genética , Doenças Periodontais/prevenção & controle , Boca/lesões , Boca/fisiologia , Gengivite/fisiopatologia , Pulpite/etiologia , Pulpite/genética , Pulpite/prevenção & controleRESUMO
El propósito de esta revisión bibliográfica es describir las acciones que protagonizan las interleuquinas, con especial interés la IL-1 en el desarrollo de la enfermedad periodontal crónica, así como su presencia en el fluido gingival crevicular (FGC). La mayoría de los estudios revisados muestran una fuerte asociación entre los niveles aumentados de esta citoquina y el estado periodontal del paciente. La IL-1 puede ser un excelente marcador para detectar la severidad y progresión de la enfermedad periodontal crónica (AU)
The aim of this bibliographic review is describing the actions played by the interleukins, especially IL-1 in development of chronic periodontal disease and its presence in gingival crevicular fluid (GCF). Most of the reviewed articles show a strong relationship between high levels of these cytokines and the periodontal status of the patient. Thus, IL-1 becomes in an excellent marker for detecting the severity and progression of chronic periodontal disease (AU)
Assuntos
Humanos , Doenças Periodontais/complicações , Doenças Periodontais/etiologia , Interleucina-1/administração & dosagem , Interleucina-1/fisiologia , Interleucina-1/uso terapêutico , Fatores de Risco , Nicotiana/efeitos adversos , Estresse Fisiológico/prevenção & controle , Higiene BucalRESUMO
No disponible
Assuntos
Masculino , Recém-Nascido , Humanos , Análise Química do Sangue , Hiperglicemia/diagnóstico , Doenças do Prematuro/diagnóstico , Reações Falso-Positivas , Recém-Nascido Prematuro , UrináliseRESUMO
The aerobic cometabolism of ortho-substituted chlorobenzoates by Pseudomonas aeruginosa strain 142 growing on glucose-supplemented medium was analyzed. The strain, which can use 2-chlorobenzoate (2-CBA) and 2,4-dichlorobenzoate (2,4-DCBA) as sole carbon and energy sources, showed high rates of 2-CBA metabolism in glucose-fed cells. In contrast, 2,4-DCBA was metabolized only after extended incubation of the full grown culture and depletion of glucose. In addition to the ortho-dehalogenation (ohb142) genes encoding the alpha and beta subunits of the oxygenase component of a 2-halobenzoate dioxygenase, strain 142 harbours a closely related ohbABCDFG gene cluster previously identified in P. aeruginosa JB2 (ohbJB2). The genes for the chlorocatechol ortho-catabolic pathway were identified and sequenced in this strain, showing a near complete identity with the clcABD operon of the pAC27 plasmid. Relative quantification of mRNA by RT-PCR shows a preferential induction of ohb142 by 2-CBA, which is abolished in glucose-grown cultures. The alternate ohbJB2 and clc genes were expressed preferentially in 2,4-DCBA grown cultures. Only ohbJB2 appears to be expressed in the presence of the carbohydrate. Detection of chlorocatechol-1,2-dioxygenase activity in 2,4-DCBA plus glucose grown cultures suggests the presence of an alternate system for the ortho-cleavage of chlorobenzoates. The recruitment of elements from two halobenzoate dioxygenase systems with different induction patterns, together with a chlorocatechol degradative pathway not repressed by carbon catabolite, may allow P. aeruginosa 142 to cometabolize haloaromatics in carbohydrate grown cultures.
Assuntos
Clorobenzoatos/metabolismo , Dioxigenases , Glucose/metabolismo , Pseudomonas aeruginosa/metabolismo , Biodegradação Ambiental , Catecol 1,2-Dioxigenase , Cromatografia Líquida de Alta Pressão , Meios de Cultura , DNA Bacteriano/genética , DNA Bacteriano/isolamento & purificação , Isoenzimas/biossíntese , Cinética , Oxigenases/biossíntese , Oxigenases/genética , Oxigenases/metabolismo , Pseudomonas aeruginosa/enzimologia , Pseudomonas aeruginosa/crescimento & desenvolvimento , Reação em Cadeia da Polimerase Via Transcriptase ReversaRESUMO
The stomachs and intestines of 9 Commerson's dolphins incidentally caught in trawl nets in central Patagonia and 23 stranded on beaches in Tierra del Fuego were surveyed for helminth parasites. A total of 267 individuals belonging to 4 species of parasites (1 nematode, 3 digeneans) were found in the dolphins from the first area: Anisakis sp. (larvae type 1 = A. simplex), Braunina cordiformis, Hadwenius sp. and Pholeter gastrophilus. In the Tierra del Fuego dolphins, 142 specimens belonging to 3 species (2 nematodes, 1 digenean, 1 cestode) were found: A. simplex, Hadwenius sp. and Strobilocephalus triangularis. Only 2 of the helminth species were shared in the 2 study areas, A. simplex and Hadwenius sp., and both were more common in central Patagonia. Among the species, A. simplex was most prevalent and abundant in both study areas. In Tierra del Fuego, adults of A. simplex appeared in only 1 host. Hadwenius sp., P. gastrophilus and S. triangularis are new host records for Commerson's dolphin. Species diversity and species richness were low in both study areas. Helminth communities were more diverse in central Patagonia (t = 1.97, df = 258, p < 0.05) and species richness was higher in central Patagonia (S = 4). No differences in diversity were observed between females and males of central Patagonia (t = 1.97, df = 139, p < 0.05) and between females of central Patagonia and Tierra del Fuego. The results may suggest some differences in habitat use, diet and sex between Commerson's dolphin populations in the 2 study areas.
Assuntos
Golfinhos/parasitologia , Helmintíase Animal/epidemiologia , Enteropatias Parasitárias/veterinária , Animais , Argentina/epidemiologia , Oceano Atlântico , Chile/epidemiologia , Dieta/veterinária , Feminino , Pesqueiros , Helmintíase Animal/parasitologia , Helmintos/classificação , Helmintos/isolamento & purificação , Enteropatias Parasitárias/epidemiologia , Enteropatias Parasitárias/parasitologia , Masculino , Prevalência , Fatores SexuaisRESUMO
OBJECTIVE: To find out what variables affect changes in arterial compliance in subjects with hypertension by measuring their pulse wave velocity (PWV). DESIGN: Cross-sectional, descriptive study. SETTING: Rural health centre. PATIENTS: 156 hypertense patients under 76, chosen by simple random sampling from those on the hypertension register. MEASUREMENTS AND INTERVENTIONS: We determined the degree of hypertension, years of evolution, systolic pressure (SBP), diastolic pressure (DBP), body mass index (BMI), glucaemia, whether lipaemia existed, diabetes or glucose intolerance, tobacco habit, age, sex and PWV (measured automatically by computer). We performed multivariate analysis by means of multiple linear regression, with PWV as the dependent variable, and age, SBP, DBP, BMI, years of evolution of hypertension, cholesterol, triglycerides and glucaemia as independent variables. RESULTS: Mean age 62.5 (SD 8.8). 28.2% male. Mean SBP 153 (SD 18.9). Mean DBP 87 (SD 10.3). Mean years of evolution 10.4 (SD 7.4). Mean BMI 31.2 (SD 4.9). Hyperglucaemia 24.4%. Mean glucaemia 111.3 (SD 29). Mean PWV 11.82 (SD 2.37). PWV was above the theoretically normal figures in 69.2% of cases. Multiple linear regression showed that the variables which affected PWV significantly were age, SBP and hyperglucaemia. CONCLUSIONS: Arterial compliance can be improved by controlling SBP, given that the other related factors cannot be changed.