Search results for " Diaphragmatic"
showing 10 items of 19 documents
Autosomal recessive variations of TBX6 , from congenital scoliosis to spondylocostal dysostosis
2017
International audience; Proximal 16p11.2 microdeletions are recurrent microdeletions with an overall prevalence of 0.03%. In patients with segmentation defects of the vertebra (SDV), a burden of this microdeletion was observed with TBX6 as a candidate gene for SDV. In a published cohort of patients with congenital scoliosis (CS), TBX6 haploinsufficiency was compound heterozygous with a common haplotype. Besides, a single three-generation family with spondylocostal dysostosis (SCD) was reported with a heterozygous stop-loss of TBX6. These observations questioned both on the inheritance mode and on the variable expressivity associated with TBX6-associated SDV. Based on a national recruitment …
Prenatal sonographic chest and lung measurements for predicting severe pulmonary hypoplasia.
1999
Pulmonary hypoplasia was diagnosed sonographically in 32 fetuses from 20 to 33 weeks of gestation. In addition to standard biometry, transverse thoracic diameter (TTD), sagittal thoracic diameter (TSD), thoracic circumference (TC) and lung diameter (LD) were measured in all cases and compared with known nomograms. The fetuses were divided into five groups according to the main sonographic findings: group 1—skeletal dysplasia; group 2—renal agenesis; group 3—diaphragmatic hernia; group 4—hydrothorax; and group 5—others. Severe pulmonary hypoplasia (PH) was diagnosed prenatally in all cases on the basis of LD measurements. In 17 (53.1 per cent) out of 32 cases TTD was below the 5th percentile…
Assessment of various factors influencing esophageal pressure measurement
1980
Die intraluminale Manometrie wird zunehmend fur die Diagnose osophagealer Motilitatsstorungen eingesetzt. Die klinische Validitat der Methode hangt jedoch entscheidend von einer exakten Standardisierung der Methodik, des Untersuchungsablaufes und der Kenntnis der Einflusgrosen auf das Mesergebnis ab. Im ersten Teil dieser Studie wurde der Einflus verschiedener methodischer Faktoren auf das Ergebnis der Osophagusdruckmessung in Modellversuchen, bei 44 gesunden Probanden und bei 74 Patienten mit axialer Hiatushernie mit einem elektromagnetischen Mikrotransducer untersucht. Signifikante Unterschiede der Meswerte fanden sich in Abhangigkeit von der Sensorposition im oberen Osophagussphinkter (p…
A maChine and deep Learning Approach to predict pulmoNary hyperteNsIon in newbornS with congenital diaphragmatic Hernia (CLANNISH): Protocol for a re…
2021
Introduction Outcome predictions of patients with congenital diaphragmatic hernia (CDH) still have some limitations in the prenatal estimate of postnatal pulmonary hypertension (PH). We propose applying Machine Learning (ML), and Deep Learning (DL) approaches to fetuses and newborns with CDH to develop forecasting models in prenatal epoch, based on the integrated analysis of clinical data, to provide neonatal PH as the first outcome and, possibly: favorable response to fetal endoscopic tracheal occlusion (FETO), need for Extracorporeal Membrane Oxygenation (ECMO), survival to ECMO, and death. Moreover, we plan to produce a (semi)automatic fetus lung segmentation system in Magnetic Resonanc…
Double traumatic diaphragmatic injury: A case report.
2019
Highlights • Diaphragmatic injuries are rare complications from trauma. • Bilateral diaphragmatic injuries are extremely rare and just a few cases are reported. • Sometimes the diagnosis is delayed or even missed. • Both primary repair or mesh repair are safe and feasible. • The use of a polypropylene mesh with titanized surface has not been attempted before.
New insights in respiratory impedance in young children after repair of congenital diaphragmatic hernia: a cross-sectional study
2019
Abstract Lung function impairment is common in Congenital Diaphragmatic Hernia (CDH) survivors. The aim of this study was to evaluate, in children who underwent CDH surgical repair, mid and long-term consequences on respiratory impedance, investigating the impact of CDH on both resistance and reactance parameters, as well as bronchodilator response. Forced Oscillation Technique (FOT) parameters were collected from 12 patients (2–11 years). Resistance and reactance values at 8 Hz (Rrs8, Xrs8) and the area under the reactance curve (AX) were measured pre and post-salbutamol. Quantitative variables were compared using Mann-Whitney U test. Differences of categorical variables were evaluated usi…
Is laterality of congenital diaphragmatic hernia a reliable prognostic factor? French national cohort study.
2020
International audience; Objectives: The objective of this study was to assess whether the laterality of congenital diaphragmatic hernia (CDH) was a prognostic factor for neonatal survival.Methods : This was a cohort study using the French national database of the Reference Center for Diaphragmatic Hernias. The principal endpoint was survival after hospitalization in intensive care.We made a comparative study between right CDH and left CDH by univariate and multivariate analysis. Terminations and stillbirths were excluded from analyses of neonatal outcomes.Results: A total of 506 CDH were included with 67 (13%) right CDH and 439 left CDH (87%). Rate of survival was 49% for right CDH and 74% …
Right diaphragmatic injury and lacerated liver during a penetrating abdominal trauma: case report and brief literature review
2014
Introduction: Diaphragmatic injuries are rare consequences of thoracoabdominal trauma and they often occur in association with multiorgan injuries. The diaphragm is a difficult anatomical structure to study with common imaging instruments due to its physiological movement. Thus, diaphragmatic injuries can often be misunderstood and diagnosed only during surgical procedures. Diagnostic delay results in a high rate of mortality. Methods: We report the management of a clinical case of a 45-old man who came to our observation with a stab wound in the right upper abdomen. The type or length of the knife used as it was extracted from the victim after the fight. CT imaging demonstrated a right hem…
Evaluation of esophageal motility and reflux in children treated for congenital diaphragmatic hernia with the use of combined multichannel intralumin…
2011
Abstract Background Gastroesophageal reflux (GER) is frequently observed in children treated for congenital diaphragmatic hernia (CDH) at birth, as well as esophageal dysmotility, that has been hypothesized to be caused by innervatory anomalies. The aim of this study is to evaluate GER and dysmotility in young patients with CDH using pH-multichannel intraluminal impedance. Methods Thirty children (17 boys and 13 girls) who underwent repair for CDH between 2002 and 2007 with a median age of 5.2 years (range, 3-10 years) were included in the study. All patients were operated on with a subcostal laparotomy incision and had a left-sided diaphragmatic defect. The defect repair required an artifi…
Successful tracheal occlusion using ultrathin fetoscopic equipment combined with real-time three-dimensional ultrasound.
2008
<i>Objective:</i> The most common complication of intrauterine tracheal balloon occlusion is the preterm premature rupture of membranes (PPROM) which increases the rate of neonatal morbidity and mortality. Ultrathin fetoscopy may be a method of reducing the risk of PPROM. <i>Materials and Methods:</i> The operation was performed at the 27th week of gestation after sedation and relaxation of a fetus with bilateral congenital diaphragmatic hernia and with the liver lifted upwards into the thorax. An ultrathin sheath with a 1.2-mm fetoscope was used under real-time 3-D ultrasound guidance. The patient delivered in the 38th week of gestation and did not display PPROM aft…