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BACKGROUND: Exome sequencing in prenatal context confronts with pathogenic variants associated with phenotypes that are not detectable prenatally. MATERIALS AND METHODS: A consanguineous couple was referred at 24 weeks of gestation for prenatal genetic investigations after ultrasonography findings including decreased fetal movements, hypoplastic male external genitalia, retrognathia, prefrontal edema, anomalies of the great vessels with pulmonary atresia and dilated tortuous aorta. RESULT: Prenatal trio exome sequencing identified two homozygous likely pathogenic variants, i.e. a missense in EFEMP2 involved in cutis laxa and a nonsense in RAG1 involved in several types of severe combined immunodeficiency. DISCUSSION: The fetal ultrasonographic phenotype was partially compatible with previously reported prenatal presentations secondary to EFEMP2 biallelic variants, but prenatal presentations have never been reported for RAG1 related disorders because the RAG1 phenotype is undetectable during pregnancy. CONCLUSION: Both EFEMP2 and RAG1 variants were disclosed to the couple because the EFEMP2 variant was considered causative for the fetal ultrasonographic phenotype and the RAG1 variant was considered a finding of strong interest for genetic counselling and monitoring of future pregnancies following the American College of Medical Genetics and Genomics recommendations about the discovery of incidental findings in fetal exome sequencing in prenatal diagnosis.
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Sequenciamento do Exoma , Proteínas de Homeodomínio , Fenótipo , Humanos , Feminino , Gravidez , Sequenciamento do Exoma/métodos , Masculino , Proteínas de Homeodomínio/genética , Ultrassonografia Pré-Natal , Adulto , Mutação de Sentido Incorreto , Diagnóstico Pré-Natal/métodosRESUMO
A consanguineous couple was referred at 10 weeks of gestation (WG) for prenatal genetic investigations due to isolated cystic hygroma. Prenatal trio exome sequencing identified causative homozygous truncating variants in ASCC1 previously implicated in spinal muscular atrophy with congenital bone fractures. Prenatal manifestations in ASCC1 can usually include hydramnios, fetal hypo-/akinesia, arthrogryposis, contractures and limb deformities, hydrops fetalis and cystic hygroma. An additional truncating variant was identified in CSPP1 associated with Joubert syndrome. Presentations in CSPP1 include cerebellar and brainstem malformations with vermis hypoplasia and molar tooth sign, difficult to visualize in early gestation. A second pregnancy was marked by the recurrence of isolated increased nuchal translucency at 10 + 2 WG. Sanger prenatal diagnosis targeted on ASCC1 and CSPP1 variants showed the presence of the homozygous familial ASCC1 variant. In this case, prenatal exome sequencing analysis is subject to a partial ASCC1 phenotype and an undetectable CSPP1 phenotype at 10 weeks of gestation. As CSPP1 contribution is unclear or speculative to a potentially later in pregnancy or postnatal phenotype, it is mentioned as a variant of uncertain significance. The detection of pathogenic or likely pathogenic variants involved in severe disorders but without phenotype-genotype correlation because the pregnancy is in the early stages or due to prenatally undetectable phenotypes, will encourage the clinical community to define future practices in molecular prenatal reporting.
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Linfangioma Cístico , Gravidez , Feminino , Humanos , Linfangioma Cístico/diagnóstico por imagem , Linfangioma Cístico/genética , Diagnóstico Duplo (Psiquiatria) , Diagnóstico Pré-Natal , Feto/diagnóstico por imagem , Fenótipo , Proteínas de Transporte/genéticaRESUMO
The beginning of the conflict in Ukraine has reminded Europeans the many and diverse consequences of armed conflicts. Indeed, the ever more sophisticated conflicts have led to the diffusion of numerous chemicals whose consequences spread even after the end of the war. We present through this paper a review of the consequences on pregnancies of the major conflicts that took place since the end of World War II. MEDLINE, Web of science, and Embase were screened for articles linking perinatal death or birth defects to wartime. A total of 50 papers treating of 8 countries and 4 major and medically documented conflicts were included in the final analysis. An increase in birth defects and perinatal death during and after the end of the conflicts was reported through all the conflicts analyzed. While more data are needed to conclude, maternal fetal medicine specialists ought to be wary when dealing with exposed populations.
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Background The SARS-CoV-2 Omicron variant has a higher infection rate than previous variants but results in less severe disease. However, the effects of Omicron and vaccination on chest CT findings are difficult to evaluate. Purpose To investigate the effect of vaccination status and predominant variant on chest CT findings, diagnostic scores, and severity scores in a multicenter sample of consecutive patients referred to emergency departments for proven COVID-19. Materials and Methods This retrospective multicenter study included adults referred to 93 emergency departments with SARS-CoV-2 infection according to a reverse-transcriptase polymerase chain reaction test and known vaccination status between July 2021 and March 2022. Clinical data and structured chest CT reports, including semiquantitative diagnostic and severity scores following the French Society of Radiology-Thoracic Imaging Society guidelines, were extracted from a teleradiology database. Observations were divided into Delta-predominant, transition, and Omicron-predominant periods. Associations between scores and variant and vaccination status were investigated with χ2 tests and ordinal regressions. Multivariable analyses evaluated the influence of Omicron variant and vaccination status on the diagnostic and severity scores. Results Overall, 3876 patients were included (median age, 68 years [quartile 1 to quartile 3 range, 54-80]; 1695 women). Diagnostic and severity scores were associated with the predominant variant (Delta vs Omicron, χ2 = 112.4 and 33.7, respectively; both P < .001) and vaccination status (χ2 = 243.6 and 210.1; both P < .001) and their interaction (χ2 = 4.3 [P = .04] and 28.7 [P < .001], respectively). In multivariable analyses, Omicron variant was associated with lower odds of typical CT findings than was Delta variant (odds ratio [OR], 0.46; P < .001). Two and three vaccine doses were associated with lower odds of demonstrating typical CT findings (OR, 0.32 and 0.20, respectively; both P < .001) and of having high severity score (OR, 0.47 and 0.33, respectively; both P < .001), compared with unvaccinated patients. Conclusion Both the Omicron variant and vaccination were associated with less typical chest CT manifestations of COVID-19 and lesser extent of disease. © RSNA, 2023 Supplemental material is available for this article. See also the editorial by Yoon and Goo in this issue.
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COVID-19 , Adulto , Humanos , Feminino , Idoso , SARS-CoV-2 , Vacinação , Tomografia Computadorizada por Raios XRESUMO
OBJECTIVES: To describe injury patterns in children with multiple trauma (MT), evaluate the yield of dual-phase whole-body CT (WBCT), and quantify missed injuries detected on second reading. METHODS: Remotely analyzed WBCT performed between 2011 and 2020 in 63 emergency departments on children admitted for MT were included. Second reading occurred within 24 h. Collected data included age, sex, mechanism, Injury Severity Score (ISS), radiologists' experience, time and duration of first reading, conclusion of both readings, and dosimetry. Melvin score assessed the clinical impact of missed injuries. RESULTS: Overall, 1114 patients were included, 1982 injuries were described in 662 patients (59.4%), 452/1114 (40.6%) WBCT were negative, and 314 (28.2%) patients had MT (≥ 2 body parts injured). The most frequent injuries were pulmonary contusions (8.3%), costal fractures (6.2%), and Magerl A1 vertebral fractures (4.9%). Overall, 151 injuries were missed in 92 (8.3%) patients. Independent predictors for missed injuries were age ≤ 4 years (p = 0.03), number of injured body parts ≥ 2 (p = 0.01), and number of injuries ≥ 3 (p < 0.001). Melvin score grade 3 lesions were found in 16/92 (17.4%) patients with missed injuries (1.4% of all WBCT), where only prolonged follow-up was necessary. Thirteen active bleeding or pseudoaneurysms were detected (0.7% of injuries). CONCLUSION: Injuries were diagnosed in 59.4% of patients. Double-reading depicted additional injuries in 8.3% of patients, significantly more in children ≤ 4 years, with ≥ 3 injuries or ≥ 2 injured body parts. As 28 % of patients had MT and 1.1% had active extravasation or pseudoaneurysm, indication for WBCT should be carefully weighted. KEY POINTS: ⢠When performed as a first-line imaging evaluation, approximately 41% of WBCT for MT children were considered normal. ⢠The three most common injuries were pulmonary contusions, costal fractures, and Magerl A1 vertebral fractures, but the patterns of traumatic injuries on WBCT depended on the children's age and the trauma mechanism. ⢠The independent predictors of missed injuries were age ≤ 4 years, number of body parts involved ≥ 2, and total number of injuries ≥ 3.
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Contusões , Traumatismo Múltiplo , Fraturas das Costelas , Humanos , Criança , Pré-Escolar , Tomografia Computadorizada por Raios X/métodos , Imagem Corporal Total/métodos , Escala de Gravidade do Ferimento , Traumatismo Múltiplo/diagnóstico por imagem , Traumatismo Múltiplo/epidemiologia , Estudos RetrospectivosRESUMO
OBJECTIVES: To quantify and model normal foetal lung and liver elasticities between 24 and 39 weeks of gestation (WG) using two-dimensional shear wave elastography (2D-SWE). To assess the impact of the distance between the probe and the target organ on the estimation of elasticity values. METHODS: Measurements of normal foetal lungs and liver elasticity were prospectively repeated monthly between 24 and 39 WG in 72 foetuses using 2D-SWE. Elasticity was quantified in the proximal lung and in the region inside the hepatic portal sinus. The distance between the probe and the target organ was recorded. Trajectories representing foetal lung and liver maturation from at least 3 measurements over time were modelled. RESULTS: The average elasticity for the lung and liver was significantly different from 24 WG to 36 WG (p < 0.01). Liver elasticity increased during gestation (3.86 kPa at 24 WG versus 4.45 kPa at 39 WG). From 24 WG to 32 WG, lung elasticity gradually increased (4.12kPa at 24 WG, 4.91kPa at 28 WG, 5.03kPa at 32 WG, p < 0.002). After 32 WG, lung elasticity decreased to 4.54kPa at 36 WG and 3.94kPa at 39 WG. The dispersion of the average elasticity values was greater for the lung than for the liver (p < 0.0001). Variation in the elasticity values was less important for the liver than for the lung. The values were considered valid and repeatable except for a probe-lung distance above 8cm. CONCLUSION: Foetal lung and liver elasticities evolve differently through gestation. This could reflect the tissue maturation of both organs during gestation. TRIAL REGISTRATION: clinicaltrials.gov identifier: NCT03834805 KEY POINTS: ⢠Prenatal quantification of foetal lung elasticity using 2D shear wave elastography could be a new prenatal parameter for exploring foetal lung maturity. ⢠Liver elasticity increased progressively from 24 weeks of gestation (WG) to 39 WG, while lung elasticity increased first between 24 and 32 WG and then decreased after 32 WG. ⢠The values of elasticity are considered valid and repeatable except for a probe-lung distance above 8cm.
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Técnicas de Imagem por Elasticidade , Elasticidade , Técnicas de Imagem por Elasticidade/métodos , Feminino , Humanos , Fígado/diagnóstico por imagem , Cirrose Hepática , Pulmão/diagnóstico por imagem , GravidezRESUMO
OBJECTIVES: To evaluate and compare the diagnostic performances of a commercialized artificial intelligence (AI) algorithm for diagnosing pulmonary embolism (PE) on CT pulmonary angiogram (CTPA) with those of emergency radiologists in routine clinical practice. METHODS: This was an IRB-approved retrospective multicentric study including patients with suspected PE from September to December 2019 (i.e., during a preliminary evaluation period of an approved AI algorithm). CTPA quality and conclusions by emergency radiologists were retrieved from radiological reports. The gold standard was a retrospective review of CTPA, radiological and clinical reports, AI outputs, and patient outcomes. Diagnostic performance metrics for AI and radiologists were assessed in the entire cohort and depending on CTPA quality. RESULTS: Overall, 1202 patients were included (median age: 66.2 years). PE prevalence was 15.8% (190/1202). The AI algorithm detected 219 suspicious PEs, of which 176 were true PEs, including 19 true PEs missed by radiologists. In the cohort, the highest sensitivity and negative predictive values (NPVs) were obtained with AI (92.6% versus 90% and 98.6% versus 98.1%, respectively), while the highest specificity and positive predictive value (PPV) were found with radiologists (99.1% versus 95.8% and 95% versus 80.4%, respectively). Accuracy, specificity, and PPV were significantly higher for radiologists except in subcohorts with poor-to-average injection quality. Radiologists positively evaluated the AI algorithm to improve their diagnostic comfort (55/79 [69.6%]). CONCLUSION: Instead of replacing radiologists, AI for PE detection appears to be a safety net in emergency radiology practice due to high sensitivity and NPV, thereby increasing the self-confidence of radiologists. KEY POINTS: ⢠Both the AI algorithm and emergency radiologists showed excellent performance in diagnosing PE on CTPA (sensitivity and specificity ≥ 90%; accuracy ≥ 95%). ⢠The AI algorithm for PE detection can help increase the sensitivity and NPV of emergency radiologists in clinical practice, especially in cases of poor-to-moderate injection quality. ⢠Emergency radiologists recommended the use of AI for PE detection in satisfaction surveys to increase their confidence and comfort in their final diagnosis.
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Embolia Pulmonar , Radiologia , Idoso , Angiografia , Inteligência Artificial , Humanos , Embolia Pulmonar/diagnóstico por imagem , Estudos RetrospectivosRESUMO
OBJECTIVE: To assess the contribution and impact of fetal magnetic resonance imaging (MRI) in managing fetal gastroschisis. METHODS: We conducted an observational retrospective study of gastroschisis patients at three fetal medicine centers from 2008 to 2019. The primary endpoint was the number of cases in which the MRI provided relevant information related to gastroschisis. RESULTS: A total of 189 patients were included, and our study group included 38 patients who underwent MRI. For the eight patients with suspected gastroschisis, MRI confirmed the diagnosis. In six cases, it provided additional relevant information (spiral turn, intestine ischemia, and bowel size discrepancy). For the 17 patients with ultrasound signs of additional gastrointestinal anomalies, MRI detected one case of unidentified complex gastroschisis on sonography. For the 13 patients undergoing routine MRI, no significant information was obtained. One termination of pregnancy and one fetoscopy were performed a few days after the MRI results. There was no subsequent follow-up or additional bowel complications to support management. CONCLUSION: Although MRI did not change the management of pregnancies complicated by fetal gastroschisis, patients presenting with fetal gastroschisis with intraabdominal bowel dilatation could benefit from MRI to allow for more precise prenatal counseling to predict postnatal intestinal complications before birth.
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Gastrosquise , Feminino , Gastrosquise/diagnóstico por imagem , Humanos , Imageamento por Ressonância Magnética , Gravidez , Prognóstico , Estudos Retrospectivos , Ultrassonografia Pré-Natal/métodosRESUMO
Although using standardized reports is encouraged, most emergency radiological reports in France remain in free-text format that can be mined with natural language processing for epidemiological purposes, activity monitoring or data collection. These reports are obtained under various on-call conditions by radiologists with various backgrounds. Our aim was to investigate what influences the radiologists' written expressions. To do so, this retrospective multicentric study included 30,227 emergency radiological reports of computed tomography scans and magnetic resonance imaging involving exactly one body region, only with pathological findings, interpreted from 2019-09-01 to 2020-02-28 by 165 radiologists. After text pre-processing, one-word tokenization and use of dictionaries for stop words, polarity, sentiment and uncertainty, 11 variables depicting the structure and content of words and sentences in the reports were extracted and summarized to 3 principal components capturing 93.7% of the dataset variance. In multivariate analysis, the 1st principal component summarized the length and lexical diversity of the reports and was significantly influenced by the weekday, time slot, workload, number of examinations previously interpreted by the radiologist during the on-call period, type of examination, emergency level and radiologists' gender (P value range: < 0.0001-0.0029). The 2nd principal component summarized negative formulations, polarity and sentence length and was correlated with the number of examination previously interpreted by the radiologist, type of examination, emergency level, imaging modality and radiologists' experience (P value range: < 0.0001-0.0032). The last principal component summarized questioning, uncertainty and polarity and was correlated with the type of examination and emergency level (all P values < 0.0001). Thus, the length, structure and content of emergency radiological reports were significantly influenced by organizational, radiologist- and examination-related characteristics, highlighting the subjectivity and variability in the way radiologists express themselves during their clinical activity. These findings advocate for more homogeneous practices in radiological reporting and stress the need to consider these influential features when developing models based on natural language processing.
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Processamento de Linguagem Natural , Radiologia , Humanos , Radiologistas , Estudos Retrospectivos , Tomografia Computadorizada por Raios XRESUMO
OBJECTIVES: To evaluate the accuracy of diagnoses of COVID-19 based on chest CT as well as inter-observer agreement between teleradiologists during on-call duty and senior radiologists in suspected COVID-19 patients. MATERIALS AND METHODS: From March 13, 2020, to April 14, 2020, consecutive suspected COVID-19 adult patients who underwent both an RT-PCR test and chest CT from 15 hospitals were included in this prospective study. Chest CTs were immediately interpreted by the on-call teleradiologist and were systematically blind reviewed by a senior radiologist. Readings were categorised using a five-point scale: (1) normal; (2) non-infectious findings; (3) infectious findings but not consistent with COVID-19 infection; (4) consistent with COVID-19 infection; and (5) typical appearance of COVID-19 infection. The diagnostic accuracy of chest CT and inter-observer agreement using the kappa coefficient were evaluated over the study period. RESULTS: In total, 513 patients were enrolled, of whom 244/513 (47.6%) tested positive for RT-PCR. First readings were scored 4 or 5 in 225/244 (92%) RT-PCR+ patients, and between 1 and 3 in 201/269 (74.7%) RT-PCR- patients. The data were highly consistent (weighted kappa = 0.87) and correlated with RT-PCR (p < 0.001, AUC1st-reading = 0.89, AUC2nd-reading = 0.93). The negative predictive value for scores of 4 or 5 was 0.91-0.92, and the PPV for a score of 5 was 0.89-0.96 at the first and second readings, respectively. Diagnostic accuracy was consistent over the study period, irrespective of a variable prevalence rate. CONCLUSION: Chest CT demonstrated high diagnostic accuracy with strong inter-observer agreement between on-call teleradiologists with varying degrees of experience and senior radiologists over the study period. KEY POINTS: ⢠The accuracy of readings by on-call teleradiologists, relative to second readings by senior radiologists, demonstrated a sensitivity of 0.75-0.79, specificity of 0.92-0.97, NPV of 0.80-0.83, and PPV of 0.89-0.96, based on "typical appearance," as predictive of RT-PCR+. ⢠Inter-observer agreement between the first reading in the emergency setting and the second reading by the senior emergency teleradiologist was excellent (weighted kappa = 0.87).
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COVID-19 , Infecções por Coronavirus , Adulto , Serviço Hospitalar de Emergência , Humanos , Estudos Prospectivos , SARS-CoV-2 , Sensibilidade e EspecificidadeRESUMO
Neonaticide is defined by the deliberate killing or homicide of a child within 24 h of its birth. In this context, three fundamental questions are generally asked of the forensic pathologist: what is the cause of death of the neonate? Was the child viable (i.e., what is the gestational age of the neonate)? Finally, was the neonate stillborn or liveborn?Postmortem imaging can help answer these questions by conducting (1) a complete lesional analysis of the body and the placenta, (2) an estimation of the gestational age by measuring the lengths of the diaphyseal long bones, and (3) an analysis of the aeration of the lungs and intestines. Using the details of 18 cases, we illustrate aspects of neonaticide cases in postmortem computed tomography (PMCT), offering detailed examples of notable postmortem changes and abnormalities, especially in the analysis of the pulmonary parenchyma. This article presents a useful iconography for the radiologist confronted with this rare yet complex forensic situation.
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Patologia Legal , Recém-Nascido/fisiologia , Infanticídio , Tomografia Computadorizada por Raios X , Autopsia/instrumentação , Causas de Morte , Feminino , Idade Gestacional , Humanos , Masculino , Mudanças Depois da MorteRESUMO
The aim of this study was to identify specific unusual prenatal ultrasound (US) patterns of the adrenal gland and to propose a systematic approach for diagnosis. Six fetuses with unusual aspects of one or both adrenal glands, detected during routine prenatal US screening, were evaluated. Prenatal and postnatal management are described. A checklist of US features was created to perform a detailed analysis of adrenal lesions and guide prenatal management; this includes the time of appearance, location, growth, vascularization, structure, and presence of findings suggestive of malignancy.
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Glândulas Suprarrenais , Ultrassonografia Pré-Natal , Glândulas Suprarrenais/diagnóstico por imagem , Feminino , Humanos , Imageamento por Ressonância Magnética , Gravidez , Diagnóstico Pré-Natal , UltrassonografiaRESUMO
BACKGROUND: Ultrasound elastography has been suggested for assessing organ fibrosis. OBJECTIVE: To study the feasibility of shear-wave elastography in children with kidney disease and the correlation between elasticity and kidney fibrosis in order to reduce the indications for kidney biopsy and its complications. MATERIALS AND METHODS: Four operators measured kidney elasticity in children with kidney diseases or transplants, all of whom also had a renal biopsy. We assessed the feasibility and the intraobserver variability of the elasticity measurements for each probe used and each kidney explored. Then we tested the correlation between elasticity measurements and the presence of fibrosis. RESULTS: Overall, we analyzed 95 children and adolescents, 31 of whom had renal transplant. Measurements with the convex probe were possible in 100% of cases. Linear probe analysis was only possible for 20% of native kidneys and 50% of transplants. Intraobserver variabilities ranged from moderate to high, depending on the probe and kidney studied. Elasticity was higher with the linear probe than with the convex probe (P<0.001 for left kidney and P=0.03 for right kidney). Measurements did not differ from one kidney to another in the same child. Elasticity and fibrosis were both higher in transplant patients (P=0.02 with convex probe; P=0.01 with linear probe; P=0.04 overall). There was no correlation between elasticity and fibrosis. CONCLUSION: Of the devices used in this work, kidney elastography was more accurately analyzed with a convex probe. Our study did not identify any correlation between elasticity and kidney fibrosis.
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Técnicas de Imagem por Elasticidade , Nefropatias , Adolescente , Criança , Estudos de Viabilidade , Fibrose , Humanos , Rim/diagnóstico por imagem , Rim/patologia , Nefropatias/diagnóstico por imagem , Nefropatias/patologia , Reprodutibilidade dos TestesRESUMO
INTRO: Evidence of breath after birth is one of the main forensic issues in suspected neonaticide. Hydrostatic test (HT) and pathological examination are currently used to assess it, but they are not entirely reliable or immediately available. OBJECTIVE: To determine the performance of postmortem computed tomography (PMCT) to assess neonatal breath in suspected neonaticide, by comparing lung CT attenuation values between live birth and stillbirth cases, in correlation with HT and pathology. METHOD: Cases of suspected neonaticides who underwent a PMCT and complete forensic autopsy with an HT were retrospectively selected from the databases of four French Forensic Medicine Departments. The diagnosis of vitality (i.e., stillbirth or live birth) was based on the pathological examination and/or a combination of arguments, including HT result. Lung density on CT was measured in Hounsfield units (HU) by ROIs drawn in both pulmonary parenchymas. RESULTS: Eleven patients were included, six live birth and five stillbirth cases. The result of HT was concordant with pathological examination when available (seven cases). Mean lung densities in live birth cases (- 173 HU [- 255; - 91 CI 95%]) were significantly lower than in stillbirth cases (40 HU [28; 52 CI 95%]) (p < 0.05), with a very high degree of interobserver reproducibility (ICC = 0.998 (CI 95% 0.991-0.999; p < 0.001). CONCLUSION: PMCT and especially lung CT attenuation measurement is a reliable and easy-to-use method for assessing neonatal breath in suspected neonaticides.
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Autopsia/métodos , Gases/análise , Pulmão/diagnóstico por imagem , Pulmão/patologia , Tomografia Computadorizada por Raios X , Feminino , Medicina Legal , França/epidemiologia , Humanos , Recém-Nascido , Infanticídio , Nascido Vivo , Masculino , Reprodutibilidade dos Testes , Estudos Retrospectivos , NatimortoRESUMO
OBJECTIVE: To evaluate the complementarity between prenatal ultrasound, computed tomography, and MRI scans for fetuses with Binder phenotype. METHODS: We carried out a retrospective study from January 1, 2009, to June 30, 2018, of fetuses with Binder phenotype. Prenatal ultrasound (US) data were collected. A systematic survey of the entire skeleton was performed to look for associated abnormalities such as calcifications, brachytelephalangy, and spinal stenosis. Parents were systematically offered fetal skeletal computed tomography (CT). RESULTS: Thirteen cases were included. Two cases of perinatal respiratory distress (18%) were observed. Chondrodysplasia punctata was diagnosed from the presence of calcifications, especially of the proximal femoral epiphyses and tarsal bones, in five cases (38%) by US and in 10 cases (83%) by CT. Calcifications of the hyoid bone were detected by CT in three cases (25%) one of which had respiratory distress. Polyhydramnios was associated with the Binder phenotype in four cases (30%) one of which had respiratory distress. One single fetus had combined polyhydramnios and laryngeal calcifications, and he suffered from perinatal respiratory distress. CONCLUSION: An antenatal diagnosis of Binder phenotype is often associated with chondrodysplasia punctata. We recommend the use of fetal CT as a complement to US in this condition.
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Anormalidades Maxilofaciais/diagnóstico , Imagem Multimodal/métodos , Diagnóstico Pré-Natal/métodos , Síndrome do Desconforto Respiratório do Recém-Nascido/diagnóstico , Adulto , Feminino , Humanos , Recém-Nascido , Imageamento por Ressonância Magnética , Masculino , Anormalidades Maxilofaciais/complicações , Pessoa de Meia-Idade , Fenótipo , Valor Preditivo dos Testes , Gravidez , Prognóstico , Síndrome do Desconforto Respiratório do Recém-Nascido/etiologia , Estudos Retrospectivos , Fatores de Risco , Tomografia Computadorizada por Raios X , Ultrassonografia Pré-NatalRESUMO
Ventricular pseudoaneurysm is a rare but well-known complication after valvular endocarditis. The lesion was localised exactly where pre-operative CT scan showed lack of enhancement in the postero-lateral wall of the left ventricle. This case demonstrates how much attention must be paid to myocardial CT images and emphazises the need of close follow-up in patients with infective endocartitis.
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Falso Aneurisma/diagnóstico , Insuficiência da Valva Aórtica/cirurgia , Valva Aórtica/cirurgia , Endocardite Bacteriana/complicações , Aneurisma Cardíaco/diagnóstico , Implante de Prótese de Valva Cardíaca/efeitos adversos , Tomografia Computadorizada por Raios X/métodos , Falso Aneurisma/etiologia , Falso Aneurisma/cirurgia , Valva Aórtica/diagnóstico por imagem , Insuficiência da Valva Aórtica/diagnóstico , Criança , Ecocardiografia Transesofagiana , Endocardite Bacteriana/diagnóstico , Aneurisma Cardíaco/etiologia , Aneurisma Cardíaco/cirurgia , Ventrículos do Coração , Humanos , Masculino , ReoperaçãoRESUMO
To reduce the morbidity and mortality risk for the donor in living donor liver transplantation (LDLT), we previously identified 20% left portal vein (LPV) stenosis as an effective preconditioning method to induce cell proliferation in the contralateral lobe without downstream ipsilateral atrophy. In this study, we report the pathways involved in the first hours after preconditioning and investigate the changes in liver volume and function. Fourteen pigs were used this study. Five pigs were used to study the genetic, cellular and molecular mechanisms set up in the early hours following the establishment of our preconditioning. The remaining nine pigs were equally divided into three groups: sham-operated animals, 20% LPV stenosis, and 100% LPV stenosis. Volumetric scanning and 99 mTc-Mebrofenin hepatobiliary scintigraphy were performed before preconditioning and 14 days after to study morphological and functional changes in the liver. We demonstrated that liver regeneration triggered by 20% LPV stenosis in the contralateral lobe involves TNF-α, IL-6, and inducible nitric oxide synthase 2 by means of STAT3 and hepatocyte growth factor. We confirmed that our preconditioning was responsible for an increase in the total liver volume. Finally, we demonstrated that this volumetric gain was associated with an increase in hepatic functional capacity. NEW & NOTEWORTHY We describe a new preconditioning method for major hepatectomy that is applicable to hepatectomy for donation. We identified 20% left portal vein stenosis as effective preconditioning that is capable of inducing cell proliferation in the contralateral lobe without the downstream ipsilateral atrophy. In this study, we report the pathways involved in the first hours following preconditioning, and we confirm that 20% left portal vein stenosis is responsible for an increase in the functional capacity and total liver volume in a porcine model.
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Hepatectomia , Precondicionamento Isquêmico/métodos , Ligadura/métodos , Transplante de Fígado/métodos , Fígado , Veia Porta/cirurgia , Complicações Pós-Operatórias , Animais , Hepatectomia/efeitos adversos , Hepatectomia/métodos , Interleucina-6/análise , Fígado/irrigação sanguínea , Fígado/metabolismo , Fígado/patologia , Regeneração Hepática/fisiologia , Doadores Vivos , Modelos Anatômicos , Modelos Animais , Tamanho do Órgão , Fragmentos de Peptídeos/análise , Complicações Pós-Operatórias/etiologia , Complicações Pós-Operatórias/prevenção & controle , Recuperação de Função Fisiológica/fisiologia , Fator de Transcrição STAT3/análise , Suínos , Fator de Necrose Tumoral alfa/análiseRESUMO
BACKGROUND: Contrast-enhanced MRI is often used for diagnosis and follow-up of children with inflammatory bowel disease. OBJECTIVE: To compare the accuracy of diffusion-weighted MRI (DWI) to contrast-enhanced MRI in children with known or suspected inflammatory bowel disease. MATERIALS AND METHODS: This retrospective, consecutive study included 55 children. We used ileo-colonoscopy and histology as the reference standard from the terminal ileum to the rectum, and contrast-enhanced MRI as the reference standard proximal to the terminal ileum. DWI and contrast-enhanced MRI sequences were independently reviewed and compared per patient and per segment to these reference standards and to the follow-up for each child. RESULTS: We obtained endoscopic data for 340/385 colonic and ileal segments (88%). The rate of agreement per segment between DWI and endoscopy was 64%, and the rate of agreement between contrast-enhanced MRI and endoscopy was 59%. Per patient, sensitivity and specificity of bowel wall abnormalities as compared to the endoscopy were 87% and 100% for DWI, and 70% and 100% for contrast-enhanced MRI, respectively. Positive and negative predictive values were, respectively, 100% and 57% for DWI, and 96% and 41% for contrast-enhanced MRI. The sensitivity, specificity, positive predictive value, negative predictive value and accuracy of DWI compare to contrast-enhanced MRI in the segments proximal to the terminal ileum were 90%, 98%, 90%, 98% and 96%, respectively. CONCLUSION: The diagnostic performance of DWI is competitive to that of contrast-enhanced MRI in children with known or suspected inflammatory bowel disease.