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Sample records for left congenital diaphragmatic

  1. Right versus left congenital diaphragmatic hernia - What's the difference?

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    Burgos, Carmen Mesas; Frenckner, Björn; Luco, Matias; Harting, Matthew T; Lally, Pamela A; Lally, Kevin P

    2017-10-12

    Right-sided congenital diaphragmatic hernias (CDH) and bigger defect sizes have been associated with poorer outcomes. The aim of this study was to evaluate right- and left-sided CDH in terms of size, survival, associated anomalies, and morbidity. We used information from a multicenter, multinational database including patients with CDH born between 2007 and 2015. All infants with data on defect side were included for this analysis. We compared differences in outcomes between right- and left-sided CDH. Further analysis on the association between side, size of the defect, and outcome was performed. A total of 3754 cases of CDH were entered in the registry between January 2007 and September 2015, with an overall survival of 71%. Of those, 598 (16%) were right-sided and 3156 left-sided, with a survival rate of 67% and 72%, respectively. Right-sided CDH had a larger proportion of C and D defects (pCDH, not the side itself, accounts for the reported poorer survival in right-sided CDH. Level I for a prognosis study - This is a high-quality, prospective cohort study with 99% of patients followed to the study end point (death or discharge). Copyright © 2017 Elsevier Inc. All rights reserved.

  2. Stomach in Contact with the Bladder: A Sonographic Sign of Left Congenital Diaphragmatic Hernia.

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    Aiello, Horacio; Meller, César; Vázquez, Lucía; Otaño, Lucas

    2016-01-01

    The evaluation of the characteristics of the fetal stomach should be part of every routine prenatal ultrasound after 11 weeks. A position that has not been previously described in the literature is the stomach in contact with the bladder. We describe 6 cases with the ultrasonographic finding of the stomach in contact with the bladder, all of them in fetuses with left-sided congenital diaphragmatic hernia. Even though the reasons for this striking position of the stomach are not clear, our series highlights the fact that the visualization of the stomach in contact with the bladder may be a specific sonographic marker of congenital diaphragmatic hernia. © 2015 S. Karger AG, Basel.

  3. Fetal Stomach Position Predicts Neonatal Outcomes in Isolated Left-Sided Congenital Diaphragmatic Hernia.

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    Basta, Amaya M; Lusk, Leslie A; Keller, Roberta L; Filly, Roy A

    2016-01-01

    We sought to determine the relationship between the degree of stomach herniation by antenatal sonography and neonatal outcomes in fetuses with isolated left-sided congenital diaphragmatic hernia (CDH). We retrospectively reviewed neonatal medical records and antenatal sonography of fetuses with isolated left CDH cared for at a single institution (2000-2012). Fetal stomach position was classified on sonography as follows: intra-abdominal, anterior left chest, mid-to-posterior left chest, or retrocardiac (right chest). Ninety fetuses were included with 70% surviving to neonatal discharge. Stomach position was intra-abdominal in 14% (n = 13), anterior left chest in 19% (n = 17), mid-to-posterior left chest in 41% (n = 37), and retrocardiac in 26% (n = 23). Increasingly abnormal stomach position was linearly associated with an increased odds of death (OR 4.8, 95% CI 2.1-10.9), extracorporeal membrane oxygenation (ECMO; OR 5.6, 95% CI 1.9-16.7), nonprimary diaphragmatic repair (OR 2.7, 95% CI 1.4-5.5), prolonged mechanical ventilation (OR 5.9, 95% CI 2.3-15.6), and prolonged respiratory support (OR 4.0, 95% CI 1.6-9.9). All fetuses with intra-abdominal stomach position survived without substantial respiratory morbidity or need for ECMO. Fetal stomach position is strongly associated with neonatal outcomes in isolated left CDH. This objective tool may allow for accurate prognostication in a variety of clinical settings. © 2015 S. Karger AG, Basel.

  4. Stomach position versus liver-to-thoracic volume ratio in left-sided congenital diaphragmatic hernia.

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    Cordier, Anne-Gaël; Cannie, Mieke M; Guilbaud, Lucie; De Laveaucoupet, Jocelyne; Martinovic, Jéléna; Nowakowska, Dorota; Milejska-Lewandowska, Malgorzata; Rodó, Carlota; Viaris de Lesegno, Benjamin; Votino, Carmela; Senat, Marie-Victoire; Jani, Jacques C; Benachi, Alexandra

    2015-01-01

    To describe a new grading method for stomach position (SP) in fetuses with left-sided congenital diaphragmatic hernia (L-CDH) using ultrasound and to correlate SP to liver position and to liver-to-thoracic cavity volume ratio (LiTR) using magnetic resonance imaging. SP were graded at the level of the 4-chamber view as following: grade 1-to-4 for stomach not visualised, visualised anteriorly at the apex of the heart, stomach showing abdominal structures anteriorly and stomach with its larger part posterior to the level of the atrial-ventricular heart valves, respectively. The LiTR was calculated and correlated to SP using the Mann-Whitney U test. Seventy-four fetuses were included. Median LiTR for grade 1 SP was 0% and was not different from median LiTR for grade 2 SP (0%, p=NS). Median LiTR for grade 3 SP was 14.9% and was significantly higher than for grade 2 SP (p<0.001). Similarly, median LiTR for grade 4 SP was 20.7% and was significantly higher than for grade 3 SP (p<0.05). When SP was grade 1 or 2, liver was intra-abdominal in 21 (84%) out of 25 fetuses while it was always intrathoracic for SP 3 or 4. In L-CDH, SP as described represents a simple indirect measurement of intrathoracic position and quantification of liver.

  5. Improved Outcomes in Management of Hypoplastic Left Heart Syndrome Associated with Congenital Diaphragmatic Hernia: an Algorithmic Approach.

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    Balduf, Kaitlin; Kumar, T K Susheel; Boston, Umar; Sathanandam, Shyam; Lee, Marc V; Jancelewicz, Tim; Knott-Craig, Christopher J

    2018-02-12

    Hypoplastic left heart syndrome (HLHS) is the second most common congenital heart disease associated with congenital diaphragmatic hernia (CDH). The reported survival of neonates with CDH and HLHS is only 1-5%. We review our experience with CDH and HLHS and compare our outcomes to published literature. Retrospective review of all neonates with CDH and HLHS at our institution over a 10 year period was performed. The morphology of cardiac and diaphragm defects, clinical course, treatment strategies and outcomes were reviewed and an algorithmic approach is proposed. Five patients with CDH and HLHS were treated between 2006-2016. All had mitral stenosis with aortic stenosis (MS/AS). Four patients had a left-sided Bochdalek diaphragmatic hernia and one had a large bilateral Morgagni hernia. Two (2/4) of the Bochdalek hernias were associated with significant pulmonary hypoplasia and required patch closure of the CDH; both were palliated with percutaneous ductal stents and both died. Three patients underwent primary Norwood operation followed by repair of less severe CDH defect. All three patients are currently well and have survived bidirectional Glenn anastomosis; one is well following Fontan operation. Successful palliation of neonates with HLHS and associated CDH is possible in the current era. Outcome is determined primarily by the severity of the CDH and the degree of associated pulmonary hypoplasia. An algorithmic team approach is helpful in management of this difficult group of patients. Copyright © 2018. Published by Elsevier Inc.

  6. Congenital diaphragmatic eventration in a stillborn foal.

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    Jackson, Carney; Collyer, Petra Borchers; Loynachan, Alan

    2006-07-01

    A stillborn full term foal was presented at necropsy. The dilated duodenum and the dorsal and ventral left colon and cecum extended into the thoracic cavity and were encased by a thin transparent membrane originating from the diaphragm. The congenital condition was diagnosed as a developmental anomaly with diaphragmatic eventration. To the authors' knowledge, this is the first report of diaphragmatic eventration in a Thoroughbred stillborn foal.

  7. Right sided congenital diaphragmatic hernia: A rare case report

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    Amit Narkhed, Shrikhande DY, Prasant Nigwekar, Santosh Yadav, Haresh Kasodariya

    2014-01-01

    Full Text Available A diaphragmatic hernia is defined as a communication between abdominal and thoracic cavity with or without abdominal contents in the thorax. The true incidence of Congenital diaphragmatic hernia is 1 in 5000 live births while right side diaphragmatic hernia (15% is rare comparing to left side diaphragmatic hernia (85% because liver plugs the opening. Congenital diaphragmatic hernia typically refers to Bochdalek form, other forms are rarer. Despite advances in neonatal intensive care, congenital diaphragmatic hernia is associated with high mortality and morbidity. The posterolateral right congenital DH is a rare diaphragmatic defect. Females are twice affected than that of males. The symptoms are non characteristic and patients with this disease maybe without symptoms for a long period. The main tool for diagnosis of congenital DH is radiography. Surgical correction is required.

  8. Diminished Cardiac Performance and Left Ventricular Dimensions in Neonates with Congenital Diaphragmatic Hernia.

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    Altit, Gabriel; Bhombal, Shazia; Van Meurs, Krisa; Tacy, Theresa A

    2018-03-09

    Newborns with congenital diaphragmatic hernia (CDH) have varying degrees of pulmonary hypoplasia and pulmonary hypertension (PH), and there is limited evidence that cardiac dysfunction is present. We sought to study early neonatal biventricular function and performance in these patients by reviewing early post-natal echocardiography (ECHO) measurements and comparing them to normal term newborns. Retrospective case-control study reviewing clinical and ECHO data on term newborns with CDH and normal controls born between 2009 and 2016. Patients were excluded if major anomalies, genetic syndromes, or no ECHO available. PH was assessed by ductal shunting and tricuspid regurgitant jet velocity. Speckle-tracking echocardiography was used to assess myocardial deformation using velocity vector imaging. Forty-four patients with CDH and 18 age-matched controls were analyzed. Pulmonary pressures were significantly higher in the CDH cohort (systolic pulmonary arterial pressure to systolic blood pressure of 103 ± 13 vs. 78 ± 29%, p = 0.0001). CDH patients had decreased RV fractional area change (FAC - 28.6 ± 11.1 vs. 36.2 ± 9.6%, p = 0.02), tricuspid annular plane of systolic excursion (TAPSE-5.6 ± 1.6 vs. 8.6 ± 1.6 mm, p = 0.0001), and RV outflow tract stroke distance (8.6 ± 2.7 vs. 14.0 ± 4.5 cm, p = 0.0001) compared with controls. The left ventricular (LV) ejection fraction was similar in both groups, but CDH patients had a decreased LV end-diastolic volume by Simpson's rule (2.7 ± 1.0 vs. 5.0 ± 1.8 mL, p = 0.0001) and LVOT stroke distance (9.7 ± 3.4 vs. 12.6 ± 3.6 cm, p = 0.004). Biventricular global longitudinal strain (GLS) was markedly decreased in the CDH population compared to controls (RV-GLS: - 9.0 ± 5.3 vs. - 19.5 ± 1.4%, p = 0.0001; LV GLS: - 13.2 ± 5.8 vs. - 20.8 ± 3.5%, p = 0.0001). CDH newborns have evidence of biventricular dysfunction

  9. Intrathoracic Testicular Ectopia in Congenital Diaphragmatic Hernia

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    Mehran Hiradfar

    2006-10-01

    Full Text Available Congenital diaphragmatic hernia (CDH is a defect in the diaphragm through which intra-abdominal and retroperitoneal organs may pass. However, the presence of the testis in the thoracic cavity is rare. Here, we describe a case of left-sided Bochdalek CDH with herniation of the left testis through the defect into the thorax, which was managed successfully by primary orchiopexy.

  10. Stomach position in prediction of survival in left-sided congenital diaphragmatic hernia with or without fetoscopic endoluminal tracheal occlusion.

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    Cordier, A-G; Jani, J C; Cannie, M M; Rodó, C; Fabietti, I; Persico, N; Saada, J; Carreras, E; Senat, M-V; Benachi, A

    2015-08-01

    To investigate the value of fetal stomach position in predicting postnatal outcome in left-sided congenital diaphragmatic hernia (CDH) with and without fetoscopic endoluminal tracheal occlusion (FETO). This was a retrospective review of CDH cases that were expectantly managed or treated with FETO, assessed from May 2008 to October 2013, in which we graded, on a scale of 1-4, stomach position on the four-chamber view of the heart with respect to thoracic structures. Logistic regression analysis was used to investigate the effect of management center (Paris, Brussels, Barcelona, Milan), stomach grading, observed-to-expected lung area-to-head circumference ratio (O/E-LHR), gestational age at delivery, birth weight in expectantly managed CDH, gestational ages at FETO and at removal and period of tracheal occlusion, on postnatal survival in CDH cases treated with FETO. We identified 67 expectantly managed CDH cases and 47 CDH cases that were treated with FETO. In expectantly managed CDH, stomach position and O/E-LHR predicted postnatal survival independently. In CDH treated with FETO, stomach position and gestational age at delivery predicted postnatal survival independently. In left-sided CDH with or without FETO, stomach position is predictive of postnatal survival. Copyright © 2014 ISUOG. Published by John Wiley & Sons Ltd.

  11. Right Congenital Diaphragmatic Hernias: Is There a Correlation between Prenatal Lung Volume and Postnatal Survival, as in Isolated Left Diaphragmatic Hernias?

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    Victoria, Teresa; Danzer, Enrico; Oliver, Edward R; Edgar, J Christopher; Iyoob, Suzanne; Partridge, Emily A; Johnson, Ann M; Peranteau, William H; Coleman, Beverly G; Flake, Alan W; Johnson, Mark P; Hedrick, Holly H; Adzick, N Scott

    2018-01-01

    Whereas left-sided congenital diaphragmatic hernias (L-CDH) have been extensively studied and their prognostic parameters delineated, right-sided hernias (R-CDH) have not. Published results remain inconclusive. The aim of this study is to evaluate if proven prognostic indicators of postnatal survival in the fetus with L-CDH apply to the fetus with R-CDH. Retrospective single-center study of R-CDH fetuses with available prenatal studies assessed for fetal lung volume by means of ultrasound-measured observed versus expected (O/E) lung area to head circumference (LHR) and magnetic resonance-calculated O/E total lung volume (TLV) in a 12-year time period. Percentage of herniated liver volume and postnatal use of extracorporeal membrane oxygenation (ECMO) were also evaluated. In a cohort of 24 patients, O/E LHR, O/E TLV, percentage of herniated liver, and postnatal use of ECMO are not prognostic indicators of survival in the fetus with R-CDH. Cut-off values of O/E LHR of ≤45 or O/E TLV ≤25, known to select a population of severe cases for the L-CDH fetus, do not appear to extrapolate to the R-CDH fetus, as survival in both R-CDH groups is 60%. The findings in this study suggest that L- and R-CDH appear to behave differently, and that factors that make L-CDH fatal (low O/E TLV and O/E LHR, high-volume herniated liver) may not apply to the fetus with R-CDH. © 2017 S. Karger AG, Basel.

  12. Imaging of congenital diaphragmatic hernias

    International Nuclear Information System (INIS)

    Taylor, George A.; Estroff, Judy A.; Atalabi, Omolola M.

    2009-01-01

    Congenital diaphragmatic hernias are complex and life-threatening lesions that are not just anatomic defects of the diaphragm, but represent a complex set of physiologic derangements of the lung, the pulmonary vasculature, and related structures. Imaging plays an increasingly important role in the care of these infants. Prenatal sonography and MRI have allowed early and accurate identification of the defect and associated anomalies. These tools have also been the key to defining the degree of pulmonary hypoplasia and to predicting neonatal survival and need for aggressive respiratory rescue strategies. In the postnatal period, conventional radiography supplemented by cross-sectional imaging in selected cases can be very useful in sorting out the differential diagnosis of intrathoracic masses, in the detection of associated anomalies, and in the management of complications. Understanding the pathogenesis of diaphragmatic defects, the underlying physiologic disturbances, and the strengths and limitations of current imaging protocols is essential to the effective and accurate management of these complex patients. (orig.)

  13. Imaging of congenital diaphragmatic hernias

    Energy Technology Data Exchange (ETDEWEB)

    Taylor, George A.; Estroff, Judy A. [Harvard Medical School, Department of Radiology, Children' s Hospital Boston, Boston, MA (United States); Atalabi, Omolola M. [Harvard Medical School, Department of Radiology, Children' s Hospital Boston, Boston, MA (United States); The College of Medicine/University College Hospital, Ibadan (Nigeria)

    2009-01-15

    Congenital diaphragmatic hernias are complex and life-threatening lesions that are not just anatomic defects of the diaphragm, but represent a complex set of physiologic derangements of the lung, the pulmonary vasculature, and related structures. Imaging plays an increasingly important role in the care of these infants. Prenatal sonography and MRI have allowed early and accurate identification of the defect and associated anomalies. These tools have also been the key to defining the degree of pulmonary hypoplasia and to predicting neonatal survival and need for aggressive respiratory rescue strategies. In the postnatal period, conventional radiography supplemented by cross-sectional imaging in selected cases can be very useful in sorting out the differential diagnosis of intrathoracic masses, in the detection of associated anomalies, and in the management of complications. Understanding the pathogenesis of diaphragmatic defects, the underlying physiologic disturbances, and the strengths and limitations of current imaging protocols is essential to the effective and accurate management of these complex patients. (orig.)

  14. [A case of strangulated congenital diaphragmatic hernia with necrosis and rupture of the colon and herniation into a left hemithorax in an adult (author's transl)].

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    Sarris, M; Georgoulis, J; Gatos, M; Dariotis, A

    This is a case report of a successful repair of congenital diaphragmatic hernia in a 48 years old male that contained the transverse colon which was strangulated and ruptured in the left thoracic cavity. It was approached in two stages. First through a laparotomy the proximal part of the transverse colon was divided. The side going to the hernial sac was sutured and the proximal stump was anastomosed to the descending colon. In a second stage, two days later, through a felt thoracotomy the strangulated and ruptured colon was resected and the distal stump of the transverse colon was sutured and the hernia repaired.

  15. Congenital diaphragmatic hernia: Misdiagnosis in adolescence

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    Kadian Yogender

    2009-01-01

    Full Text Available We report 3 cases of congenital diaphragmatic hernia (CDH in the second decade of life which were misdiagnosed on initial presentation. The first case had an iatrogenic gastric injury because of intercostal tube drainage for suspected pleural effusion. The second case was treated for pulmonary tuberculosis for 6 months before being diagnosed as a case of CDH. The third case presented as acute chest pain on the left side. It was treated accordingly for 1 month and was diagnosed as a CDH on a CT scan of the chest when seen by a surgeon.

  16. Congenital diaphragmatic hernia in identical twins

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    Mustafa T Gurbaz

    2012-01-01

    Full Text Available Congenital diaphragmatic hernia (CDH, Bochdalek type is rarely seen in both members of identical twins. Herein, we report a 37 weeks′ twins with CDH along with a brief review of the literature. Both the neonates survived.

  17. Fetal stomach and gallbladder in contact with the bladder wall is a common ultrasound sign of stomach-down left congenital diaphragmatic hernia.

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    Morgan, Tara A; Basta, Amaya; Filly, Roy A

    2017-01-01

    The aim of this study was to identify sonographic (US) findings that can assist in prenatal diagnosis of stomach-down left congenital diaphragmatic hernia (CDH), specifically related to positioning of the abdominal contents including the stomach, bladder, and gallbladder. All US examinations with a postnatally confirmed diagnosis of stomach-down left CDH over a 13-year period were retrospectively reviewed for abnormal position of the abdominal contents, including whether the fetal stomach was in contact with the urinary bladder. Normal fetuses that underwent comprehensive US surveys were similarly evaluated for comparison in a 2:1 ratio. Twenty-two fetuses with stomach-down left CDH were identified in a cohort of 278 fetuses with left CDH. In 15/22 (68.2%) cases of stomach-down left CDH, the bladder and stomach walls were in contact. Contact of the fetal gallbladder with the fetal bladder wall was also observed and was present even more commonly (17/22 cases [77.3%]). There was no case of either the stomach or gallbladder in contact with the bladder wall in the normal fetal cohort (n = 44). Recognition of the fetal stomach and/or gallbladder in contact with the bladder wall can help in the detection of stomach-down left CDH. © 2016 Wiley Periodicals, Inc. J Clin Ultrasound 45:8-13, 2017. © 2016 Wiley Periodicals, Inc.

  18. Congenital asymptomatic diaphragmatic hernias in adults: a case series.

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    Bianchi, Enrica; Mancini, Paola; De Vito, Stefania; Pompili, Elena; Taurone, Samanta; Guerrisi, Isabella; Guerrisi, Antonino; D'Andrea, Vito; Cantisani, Vito; Artico, Marco

    2013-05-13

    Congenital diaphragmatic hernia is a major malformation occasionally found in newborns and babies. Congenital diaphragmatic hernia is defined by the presence of an orifice in the diaphragm, more often to the left and posterolateral, that permits the herniation of abdominal contents into the thorax. The aim of this case series is to provide information on the presentation, diagnosis and outcome of three patients with late-presenting congenital diaphragmatic hernias. The diagnosis of congenital diaphragmatic hernia is based on clinical investigation and is confirmed by plain X-ray films and computed tomography scans. In the present report three cases of asymptomatic abdominal viscera herniation within the thorax are described. The first case concerns herniation of some loops of the large intestine into the left hemi-thorax in a 75-year-old Caucasian Italian woman. The second case concerns a rare type of herniation in the right side of the thorax of the right kidney with a part of the liver parenchyma in a 57-year-old Caucasian Italian woman. The third case concerns herniation of the stomach and bowel into the left side of the chest with compression of the left lung in a 32-year-old Caucasian Italian man. This type of hernia may appear later in life, because of concomitant respiratory or gastrointestinal disease, or it may be an incidental finding in asymptomatic adults, such as in the three cases featured here. Patients who present with late diaphragmatic hernias complain of a wide variety of symptoms, and diagnosis may be difficult. Additional investigation and research appear necessary to better explain the development and progression of this type of disease.

  19. Prognostic factors of congenital diaphragmatic hernia accompanied by cardiovascular malformation.

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    Takahashi, Shigehiro; Sago, Haruhiko; Kanamori, Yutaka; Hayakawa, Masahiro; Okuyama, Hiroomi; Inamura, Noboru; Fujino, Yuji; Usui, Noriaki; Taguchi, Tomoaki

    2013-08-01

    Congenital diaphragmatic hernia is associated with cardiovascular malformation. Many prognostic factors have been identified for isolated congenital diaphragmatic hernia; however, reports of concurrent congenital diaphragmatic hernia and cardiovascular malformation in infants are limited. This study evaluated congenital diaphragmatic hernia associated with cardiovascular malformation in infants. Factors associated with prognosis for patients were also identified. This retrospective cohort study was based on a Japanese survey of congenital diaphragmatic hernia patients between 2006 and 2010. Frequency and outcome of cardiovascular malformation among infants with congenital diaphragmatic hernia were examined. Severity of congenital diaphragmatic hernia and cardiovascular malformation were compared as predictors of mortality and morbidity. Cardiovascular malformation was identified in 76 (12.3%) of 614 infants with congenital diaphragmatic hernia. Mild cardiovascular malformation was detected in 19 (33.9%) and severe cardiovascular malformation in 37 (66.1%). Their overall survival rate at discharge was 46.4%, and the survival rate without morbidity was 23.2%. Mortality and morbidity at discharge were more strongly associated with severity of cardiovascular malformation (adjusted OR 7.69, 95%CI 1.96-30.27; adjusted OR 7.93, 95%CI 1.76-35.79, respectively) than with severity of congenital diaphragmatic hernia. The prognosis for infants with both congenital diaphragmatic hernia and cardiovascular malformation remains poor. Severity of cardiovascular malformation is a more important predictive factor for mortality and morbidity than severity of congenital diaphragmatic hernia. © 2013 The Authors. Pediatrics International © 2013 Japan Pediatric Society.

  20. Newborn male presented with congenital diaphragmatic hernia and choledochal cyst: A case report

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    Daniel Krebs

    2015-05-01

    Full Text Available Infants with congenital diaphragmatic hernia (CDH have an increased incidence of associated malformations, ranging from 10% to 50% higher than the general population [1–5]. Choedochal cysts, congenital cystic dilations of the biliary tree, are anomalies that have not yet been described in association with CDH. We describe a patient with a left congenital diaphragmatic hernia who was later diagnosed with a choledochal cyst.

  1. In need of a patch UP: Recurrent congenital diaphragmatic hernia presenting with a large pleural effusion

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    Farhana Shariff

    2014-10-01

    Full Text Available We report a case of recurrent congenital diaphragmatic hernia (CDH presenting with a large unilateral pleural effusion. A 12-year old boy who had a left sided CDH repaired in the neonatal period, presented with fever, lethargy, and non-productive cough. Chest radiograph demonstrated a loculated pleural effusion. Computed tomography scan revealed recurrent herniation of abdominal contents. To our knowledge, this is the first reported case of a recurrent congenital diaphragmatic hernia presenting with large pleural effusion.

  2. Three-dimensional assessment of umbilical vein deviation angle for prediction of liver herniation in left-sided congenital diaphragmatic hernia.

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    Volpe, N; Mazzone, E; Muto, B; Suprani, A; Fanelli, T; Kaihura, C T; Dall'Asta, A; Pedrazzi, G; Del Rossi, C; Silini, E M; Magnani, C; Volpe, P; Ghi, T; Frusca, T

    2018-02-01

    To introduce a new sonographic marker of intrathoracic liver herniation in fetuses with left-sided congenital diaphragmatic hernia (CDH). In a consecutive series of fetuses with isolated CDH, an ultrasound volume of the fetal abdomen was acquired. On this volume, offline calculation of the angle formed by the midline of the abdomen (joining the center of the vertebral body to the abdominal insertion of the umbilical cord) and a second line joining the center of the vertebral body to the intra-abdominal convexity of the umbilical vein was carried out to give the umbilical vein deviation angle (UVDA). The UVDA was measured in a group of normal fetuses selected as controls. At follow-up, the presence of liver herniation was investigated in all cases of CDH. UVDA values were compared between the CDH group and controls, and between CDH 'liver-up' vs 'liver-down' cases. A receiver-operating characteristics (ROC) curve was constructed to identify a cut-off value of the UVDA with the highest accuracy in predicting liver herniation in the CDH group. Between 2009 and 2015, 22 cases of left-sided CDH were included in the study group, of which nine cases had liver herniation. Eighty-eight normal fetuses were recruited as controls. The UVDA was significantly higher in the cases vs controls (15.25 ± 7.91° vs 7.68 ± 1.55°; P CDH fetuses with liver-up vs liver-down (21.77 ± 8.79° vs 10.75 ± 2.10°; P CDH, umbilical vein bowing may be quantified by measuring the UVDA using three-dimensional ultrasound. This sonographic marker seems to be an accurate predictor of liver herniation in left-sided CDH. Copyright © 2017 ISUOG. Published by John Wiley & Sons Ltd. Copyright © 2017 ISUOG. Published by John Wiley & Sons Ltd.

  3. Thoraco-abdominal asymmetry and asynchrony in congenital diaphragmatic hernia.

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    Laviola, Marianna; Zanini, Andrea; Priori, Rita; Macchini, Francesco; Leva, Ernesto; Torricelli, Maurizio; Ceruti, Clara; Aliverti, Andrea

    2015-09-01

    Congenital diaphragmatic hernia (CDH) consists of an incomplete formation of the diaphragm and the subsequent herniation of abdominal bowels. Diaphragmatic defect can be repaired by primary closure or placing a patch. Respiratory follow up usually focuses on spirometric and clinical evaluation. The aim of the study was to assess thoraco-abdominal volumes in CDH patients and to verify whether the action of the diaphragm on the chest wall is altered leading to an asymmetric and asynchronous expansion of the different thoracoabdominal compartments. Total and compartmental chest wall volumes and asynchronies were measured by Opto-Electronic Plethysmography in 14 CDH patients (7 M/7F, age 5 ± 2 years, 12 left side operated) and in 9 age matched healthy subjects during quiet spontaneous breathing in supine position. Patients were divided in two groups: five patients with suture (group S) and nine patients with diaphragmatic patch (group P). Pulmonary function was assessed by spirometry and spirometric parameters were expressed as Z-score. In group P abdominal contribution to tidal volume was lower than healthy controls and group S. Unlike controls, in both CDH groups the right side of pulmonary rib cage moved inward with a correspondent left side expansion during inspiration. In group S, thoraco-abdominal asynchronies were higher than in group P and controls, especially in the right side. Five patients belonging to group P had a spirometric obstructive pattern. In overall CDH patients a reduced action of the treated (left) hemi-diaphragm is evident. In patients treated by primary suture, a compensatory action of the right side allows to reach a normal total diaphragmatic displacement and a proper contribution of the whole diaphragm to tidal volume. In patients treated by diaphragmatic patch, instead, thoraco-abdominal asynchronies are prevented. © 2014 Wiley Periodicals, Inc.

  4. Congenital diaphragmatic hernia-associated pulmonary hypertension.

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    Harting, Matthew T

    2017-06-01

    Congenital diaphragmatic hernia (CDH) is a complex entity wherein a diaphragmatic defect allows intrathoracic herniation of intra-abdominal contents and both pulmonary parenchymal and vascular development are stifled. Pulmonary pathology and pathophysiology, including pulmonary hypoplasia and pulmonary hypertension, are hallmarks of CDH and are associated with disease severity. Pulmonary hypertension (PH) is sustained, supranormal pulmonary arterial pressure, and among patients with CDH (CDH-PH), is driven by hypoplastic pulmonary vasculature, including alterations at the molecular, cellular, and tissue levels, along with pathophysiologic pulmonary vasoreactivity. This review addresses the basic mechanisms, altered anatomy, definition, diagnosis, and management of CDH-PH. Further, emerging therapies targeting CDH-PH and PH are explored. Published by Elsevier Inc.

  5. Epidemiology of congenital diaphragmatic hernia in Europe

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    McGivern, Mark R.; Best, Kate E.; Rankin, Judith

    2015-01-01

    reported among 12 155 491 registered births. Of 3131 singleton cases, 353 (10.4%) were associated with a chromosomal anomaly, genetic syndrome or microdeletion, 784 (28.2%) were associated with other major structural anomalies. The male to female ratio of CDH cases overall was 1:0.69. Total prevalence......INTRODUCTION: Published prevalence rates of congenital diaphragmatic hernia (CDH) vary. This study aims to describe the epidemiology of CDH using data from high-quality, population-based registers belonging to the European Surveillance of Congenital Anomalies (EUROCAT). METHODS: Cases of CDH...... for isolated cases (ie, CDH cases that did not occur with any other congenital anomaly). There was significant variation in total and isolated CDH prevalence between registers. The proportion of cases that survived to 1 week was 69.3% (1392 cases) for total CDH cases and 72.7% (1107) for isolated cases...

  6. Congenital diaphragmatic hernia with gastrointestinal symptomatology

    International Nuclear Information System (INIS)

    Siroka, M.; Bilicky, J.; Hernesniemi, B.

    2014-01-01

    The authors report a case of 6-week-old baby boy with congenital diaphragmatic hernia(CDH). He presented with nonspecific gastrointestinal symptoms. CDH is commonly manifested by nonspecific respiratory problems. The symptoms of CDH in older infants are atypical and misleading. Children may have only gastrointestinal problems even the acute abdomen. In our case, the ultrasound examination of abdomen did not detect the exact cause of vomiting and intolerance of oral intake, but the explanation has brought classic chest X-ray. (author)

  7. Genetic causes of congenital diaphragmatic hernia

    Science.gov (United States)

    Wynn, Julia; Yu, Lan; Chung, Wendy K.

    2014-01-01

    Congenital diaphragmatic hernia (CDH) is a moderately prevalent birth defect that, despite advances in neonatal care, is still a significant cause of infant death, and surviving patients have significant morbidity. The goal of ongoing research to elucidate the genetic causes of CDH is to develop better treatment and ultimately prevention. CDH is a complex developmental defect that is etiologically heterogeneous. This review summarizes the recurrent genetic causes of CDH including aneuploidies, chromosome copy number variants, and single gene mutations. It also discusses strategies for genetic evaluation and genetic counseling in an era of rapidly evolving technologies in clinical genetic diagnostics. PMID:25447988

  8. Late-presenting congenital diaphragmatic hernia

    Directory of Open Access Journals (Sweden)

    Raashid Hamid

    2014-01-01

    Full Text Available Background: This study was undertaken to highlight the clinical profile, misdiagnosis, surgical treatment,and prognosis of late-presenting congenital diaphragmatic hernia (CDH cases in a tertiary level hospital. Patients and Methods: This retrospective study included all the babies and children >1 month of age with CDH who were admitted in our Hospital (Sher-i-Kashmir Institute of Medical Sciences, Srinagar, Kashmir, India during the period between January 2008 and December 2013. Babies with age <1 month were excluded from the study. Data regarding clinical profile, operative records, and follow-up was reviewed and analysed statistically. Results: A total of 20 patients were included in this study. The clinical picture ranged from respiratory distress (13 patients to non-specific gastrointestinal complaints (5 patients. In two patients, CDH was misdiagnosed as pneumothorax and had got chest tube inserted in other hospitals before referral to this tertiary care centre. In 14 patients chest, X-ray revealed the diagnosis of CDH and in remaining five patients (including the two patients with misdiagnosis further investigations were undertaken to establish the diagnosis. Age ranged from 45 days to 17 years with an average age of 58.9 months. There were 12 male and 8 female patients. In all the 20 patients, surgical procedures were undertaken with the retrieval of herniated contents from the thoracic cavity and repair of the diaphragmatic defect. There was no mortality in our series. All the 20 patients were followed-up for a period ranging from 6 months to 5 years (median 3.1 years. Conclusions: Late-presenting CDH can have diverse clinical presentation. Late diagnosis and misdiagnosis can result in significant morbidity and potential mortality if these cases are not managed properly at an appropriate stage. Outcome is favourable if these patients are expeditiously identified and surgically repaired.

  9. Congenital diaphragmatic hernia in neonate: A retrospective study about 28 observations

    Directory of Open Access Journals (Sweden)

    Rachid Khemakhem

    2012-01-01

    Full Text Available Objective: Our purpose was to review our experience with congenital diaphragmatic hernia emphasizing diagnosis, management, and outcome. Study Design: We conducted a retrospective review of all cases of babies with congenital diaphragmatic hernia diagnosed and treated in our centre from 1998 to 2010. Results: There were 28 congenital diaphragmatic hernia cases, 13 girls and 15 boys with a mean weight birth of 3 kg. Three patients (10, 6% of cases died within a few hours after admission. In the remaining cases, surgery was performed after a stabilization period of 2 days. The diaphragmatic defect was sitting in the posterolateral left in 23 cases and right in 2 cases. Its dimensions were on average 4,5 cm, tow cases of agenesis of the cupola were seen and required the placement of gortex prosthesis. The remaining cases are treated by direct closure of defect. Postoperative course was marked by an early death in context of respiratory distress in six cases and later with sepsis in tow cases. The outcome was favourable in 17 cases (60, 7%, despite the occurrence of sepsis in four cases and evisceration in two cases. Conclusions: Congenital diaphragmatic hernia remains a serious disease with high mortality and morbidity despite advances in prenatal diagnosis and neonatal resuscitation.

  10. Congenital Diaphragmatic Hernia with Familial Occurrence in a Taiwanese Pedigree

    Directory of Open Access Journals (Sweden)

    Dah-Ching Ding

    2005-10-01

    Full Text Available Congenital diaphragmatic hernia (CDH is a developmental defect that accounts for 8% of all major congenital anomalies and is associated with a high mortality rate despite optimal postnatal treatment. Its etiology is uncertain. We report a case of familial CDH in a Taiwanese family. We believe autosomal recessive inheritance is the possible genetic etiology of CDH in this family.

  11. An Unusual Complication of Congenital Diaphragmatic Hernia.

    Science.gov (United States)

    Tan, E Tian; Sloan, Keren; Lakhoo, Kokila

    2017-01-01

    A term newborn was referred to our unit with a postnatal diagnosis of a right-sided congenital diaphragmatic hernia (CDH). She was managed with high-frequency oscillatory ventilation, inotropic support, and nitric oxide, with planned surgical repair when she was medically optimized. On day 6 of life, there was an acute deterioration causing difficulty maintaining adequate ventilation and the infant requiring increasing analgesia and paralysis, especially during abdominal examination. A repeat X-ray showed distended bowel loops in the right hemithorax when compared with previous films raising suspicion of bowel obstruction. The infant proceeded to emergency laparotomy in the neonatal intensive care unit. She was found to have a right-sided Bochdalek (posterolateral) defect. The entire small bowel was within the thoracic cavity and appeared dusky secondary to obstruction caused by compression of a herniated right liver lobe against the hernia defect. Bowel perfusion improved after reduction and a BioDesign patch was used to repair the defect. The infant went on to have a straightforward recovery and was transferred to her local hospital for ongoing care on day 17. Bowel obstruction is an uncommon complication in the perinatal period in infants with CDH. A high index of suspicion for bowel compromise is needed in neonates who deteriorate acutely after a period of stabilization. Imaging should be obtained as soon as possible and early surgical intervention may be life-saving.

  12. [Congenital diaphragmatic hernia: respiratory and vascular outcomes].

    Science.gov (United States)

    Pennaforte, T; Rakza, T; Sfeir, R; Aubry, E; Bonnevalle, M; Fayoux, P; Deschildre, A; Thumerelle, C; de Lagausie, P; Benachi, A; Storme, L

    2012-02-01

    Congenital diaphragmatic hernia (CDH) is a life-threatening anomaly associated with a variable degree of pulmonary hypoplasia (PH) and persistent pulmonary hypertension (PPH). Despite remarkable advances in neonatal resuscitation and intensive care, and new postnatal treatment strategies, the rates of mortality and morbidity in the newborn with CDH remain high as the result of severe respiratory failure secondary to PH and PPH. Later, lung function assessments show obstructive and restrictive impairments due to altered lung structure and lung damage due to prolonged ventilatory support. The long-term consequences of pulmonary hypertension are unknown. Other problems include chronic pulmonary aspiration caused by gastro-oesophageal reflux and respiratory manifestations of allergy such as asthma or rhinitis. Finally, failure to thrive may be caused by increased caloric requirements due to pulmonary morbidity. Follow-up studies that systematically assess long-term sequelae are needed. Based on such studies, a more focused approach for routine multidisciplinary follow-up programs could be established. It is the goal of the French Collaborative Network to promote exchange of knowledge, future research and development of treatment protocols. Copyright © 2012. Published by Elsevier Masson SAS.

  13. Congenital Diaphragmatic Hernia with Delayed Presentation

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    Alireza Malekzadegan

    2016-01-01

    Full Text Available Congenital diaphragmatic hernia (CDH is caused due to abnormal formation of the muscular parts of diaphragm. The incidence of CDH in common births ranges from 1/25000 to 1/30000. Pulmonary hypoplasia and pulmonary hypertension are factors that associate with the increase of mortality and morbidity due to CDH. We presented a 68-year-old Iranian woman with abdominal pain and tenderness in right upper quadrant who was diagnosed as having CDH. The disease was detected using chest X-ray and chest and abdomen sonography and confirmed with chest and abdomen CT scan with and without oral contrast. A defect was revealed in posterolateral right diaphragm with omentum and transverse colon herniated through it. Right posterolateral thoracotomy was performed to cure the disease. CT and CXR were the two useful methods in diagnosis of CDH in this patient, although CDH detection prior to surgery is too challenging because of rare cases and different types of CDH. In order to improve clinical cares in adult CDH patients, investigating more cases and long term follow-up are recommended.

  14. The case for early use of rapid whole genome sequencing in management of critically ill infants: Late diagnosis of Coffin-Siris syndrome in an infant with left congenital diaphragmatic hernia, congenital heart disease and recurrent infections.

    Science.gov (United States)

    Sweeney, Nathaly M; Nahas, Shareef A; Chowdhury, Shimul; Del Campo, Miguel; Jones, Marilyn C; Dimmock, David P; Kingsmore, Stephen F; Investigators, Rcigm

    2018-03-16

    Congenital diaphragmatic hernia (CDH) results from incomplete formation of the diaphragm leading to herniation of abdominal organs into the thoracic cavity. CDH is associated with pulmonary hypoplasia, congenital heart disease and pulmonary hypertension. Genetically, it is associated with aneuploidies, chromosomal copy number variants, and single gene mutations. CDH is the most expensive non-cardiac congenital defect: Management frequently requires implementation of Extracorporeal Membrane Oxygenation (ECMO), which increases management expenditures 2.4 - 3.5-fold. The cost of management of CDH has been estimated to exceed $250 million per year. Despite in hospital survival of 80-90%, current management is imperfect, as a great proportion of surviving children have long-term functional deficits. We report the case of a premature infant prenatally diagnosed with CDH and congenital heart disease, who had a protracted and complicated course in the intensive care unit with multiple surgical interventions, including post-cardiac surgery ECMO, gastrostomy tube placement with Nissen fundoplication, tracheostomy for respiratory failure, recurrent infections and developmental delay. Rapid whole genome sequencing (rWGS) identified a de novo, likely pathogenic, c.3096_3100delCAAAG (p.Lys1033Argfs*32) variant in ARID1B, providing a diagnosis of Coffin-Siris syndrome. Her parents elected palliative care and she died later that day. Had rWGS been performed as a neonate, eight months of suffering and futile healthcare utilization may have been avoided. Cold Spring Harbor Laboratory Press.

  15. Congenital diaphragmatic hernia: A 4-year experience in a single ...

    African Journals Online (AJOL)

    Abstract. Background: This study aimed to evaluate congenital diaphragmatic hernia (CDH) patients in our department during a 4-year period. Patients and Methods: A retrospective study of 10 cases of CDH patients managed in the Neonatology and Pediatric Surgery Units of Goztepe Teaching Hospital from 2000 to 2004.

  16. Congenital Diaphragmatic Hernia and Occupational Therapy: A Case Report

    Science.gov (United States)

    Bates, Angela C.

    2011-01-01

    This case report describes occupational therapy (OT) intervention in an outpatient setting and outcomes for a child diagnosed with congenital diaphragmatic hernia (CDH) from 4 to 28 months of age. There is little information on therapy intervention and outcomes of children who have survived. The patient is a white male, born at 35 weeks gestation…

  17. Genetic Factors in the Etiology of Congenital Diaphragmatic Hernia

    NARCIS (Netherlands)

    M. Klaassens (Merel)

    2007-01-01

    textabstractCongenital Diaphragmatic Hernia (CDH) is a relatively common birth defect in which a defect in diaphragm formation is associated with lung hypoplasia and pulmonary hypertension. CDH has a significant mortality of 50-80%, depending on the presence of associated anomalies and on the

  18. Late-presenting congenital diaphragmatic hernia | Hamid | African ...

    African Journals Online (AJOL)

    Background: This study was undertaken to highlight the clinical profile, misdiagnosis, surgical treatment,and prognosis of late-presenting congenital diaphragmatic hernia (CDH) cases in a tertiary level hospital. Patients and Methods: This retrospective study included all the babies and children >1 month of age with CDH ...

  19. Lung eicosanoids in perinatal rats with congenital diaphragmatic hernia

    NARCIS (Netherlands)

    H. IJsselstijn (Hanneke); F.J. Zijlstra (Freek); J.P.M. van Dijk; J.C. de Jongste (Johan); D. Tibboel (Dick)

    1997-01-01

    textabstractAbnormal levels of pulmonary eicosanoids have been reported in infants with persistent pulmonary hypertension (PPH) and congenital diaphragmatic hernia (CDH). We hypothesized that a dysbalance of vasoconstrictive and vasodilatory eicosanoids is involved in PPH in CDH patients. The levels

  20. Late presentation of congenital diaphragmatic hernia: Case report

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    Radović Saša V.

    2015-01-01

    Full Text Available Introduction. Congenital diaphragmatic hernia (CDH is a defect of the diaphragm with the penetration of organs of the abdominal cavity into thorax. Localization and size of the defect of the diaphragm condition the time and range of clinical manifestation. The most common is unilateral, without hernia sac, located on the left side, through posterolateral opening of the diaphragm and with clinical manifestation during the neonatal period. Smaller subgroup consists of patients with presentation outside the neonatal period with anatomic defect on the right side as is the case with our patient. Case Outline. Female infant aged seven months was hospitalized because of repeated episodes of shortness of breath and cough, with lack of progress in body weight. The discomforts had been present for the previous two months with an inadequate response to bronchodilator and antibiotic therapy used. After clinical, radiographic, ultrasound and computed tomography treatment, the right-sided diaphragmatic hernia was diagnosed, so surgical treatment followed. The defect of the diaphragm with hernia sac, through which the right lobe of the liver with visible line of entrapment, in the form of “hourglass”, is pushed into thoracic cavity, was intraoperatively identified. The reposition of the right lobe of the liver in the abdominal cavity along with reconstruction of the diaphragm using interrupted mattress sutures was performed. Conclusion. The late manifestation of CDH should be suspected in cases of inexplicable acute or chronic respiratory or gastrointestinal symptoms with pathological radiography of the thorax. Accurate diagnosis and timely minimally invasive surgical intervention ensure an excellent prognosis.

  1. Right congenital diaphragmatic hernia associated with abnormality ...

    African Journals Online (AJOL)

    The right colon, appendix, terminal ilium, and three accessories right liver lobes were also dragged into the right thoracic cavity. After reducing the hernia, the diaphragmatic defect was primarily repaired with non-absorbable suture. The redundant transvers colon which had been compromised was resected and primary ...

  2. Congenital Diaphragmatic Hernia: The Side of Diaphragmatic Defect and Associated Nondiaphragmatic Malformations.

    Science.gov (United States)

    Grizelj, Ruža; Bojanić, Katarina; Vuković, Jurica; Weingarten, Toby N; Schroeder, Darrell R; Sprung, Juraj

    2017-07-01

    Background  Congenital diaphragmatic hernia (CDH) has different clinical presentations depending on whether it is right sided (R-CDH) or left sided (L-CDH). Some have suggested that L-CDH and R-CDH may represent different syndromic phenotypes. This theory would be indirectly supported if different nondiaphragmatic anomalies were associated with laterality. We assessed whether CDH laterality is associated with specific types of nondiaphragmatic anomalies. Methods  Cases of CDH were retrospectively identified from five centers, and associated congenital anomalies, prenatal diagnosis, demographics, birth characteristics, and side of the CDH were analyzed. CDH characteristics were summarized according to the absence (isolated) or presence (complex) of nondiaphragmatic malformations. Results  Among 228 neonates with CDH, 140 (61%) had isolated CDH and 88 (39%) had complex CDH. Complex CDH was significantly associated with being small for gestational age (odds ratio [95% confidence interval, CI]: 8.3 [1.9-35.7]; p  = 0.005) and having L-CDH (odds ratio [95% CI]: 3.6 [1.5-8.9]; p  = 0.005). The overall proportion with anomalies differed by side (42% for L-CDH, 23% for R-CDH; p  = 0.02), but the rates of anomalies in specific organ systems did not differ. Conclusion  The rate of associated nondiaphragmatic anomalies by specific organ system did not differ between L-CDH and R-CDH, which suggests that they represent the same phenotypic entity. Thieme Medical Publishers 333 Seventh Avenue, New York, NY 10001, USA.

  3. Iatrogenic gastric perforation in a misdiagnosed case of late presenting congenital diaphragmatic hernia: Report of an avoidable complication

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    Pradeep Kajal

    Full Text Available Introduction: Congenital diaphragmatic hernia (CDH is a defect in diaphragm which usually presents with severe respiratory distress in neonatal period. Presentation of case: We present a case of congenital diaphragmatic hernia presenting at an age of 2.5 years in a male child. It was misdiagnosed as a case of pyothorax for which chest tube was attempted on left side resulting in iatrogenic gastric perforation. The patient was managed by early and prompt surgery. Discussion: Late presentation is usually rare with vast array of respiratory and gastrointestinal symptoms. It often leads to clinical and radiological misdiagnosis. Conclusion: Surgical intervention in misdiagnosed cases can lead to catastrophic iatrogenic complications. Keywords: Case report, Congenital diaphragmatic hernia, Pyothorax, Chest tube, Iatrogenic gastric perforation

  4. VACTERL Association Complicated with Right-sided Congenital Diaphragmatic Hernia

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    Ray Hung Chen

    2016-08-01

    Full Text Available We describe a neonate with VACTERL association and right-sided congenital diaphragmatic hernia (CDH. Such coexistence is rare. The lack of symptoms during the early neonatal period, the absence of bowel loops herniated into the right thoracic cavity, and an unfinished surgery led to clinical and radiological diagnostic difficulties. Respiratory distress occurred when the patient was 2 months old. Chest radiology plain film revealed typical findings of right-sided CDH. The diagnosis was confirmed after surgical exploration.

  5. Late presentation of congenital diaphragmatic hernia (CDH: A rare case report

    Directory of Open Access Journals (Sweden)

    Narrotam A. Patel

    2014-09-01

    Full Text Available Reporting a rare case of a 17-year-old lady with late presentation of congenital diaphragmatic hernia. She presented with vague abdominal pain and postprandial vomiting. She underwent a diagnostic upper GI scopy with no significant findings. Chest X-ray and barium study for stomach were performed. Then CT scan was performed and showed herniation of bowel loops, mesentery and spleen into the left thoracic cavity through a large defect in the posterolateral aspect of the left hemidiaphgram. After the patient was operated, content reduced and defect was repaired. Thus CDH in adolescence is rare and a high index of suspicion is required.

  6. A fatal case of complicated congenital peritoneopericardial diaphragmatic hernia in a Holstein calf

    Science.gov (United States)

    Hicks, Keltie A.; Britton, Ann P.

    2013-01-01

    Congenital peritoneopericardial diaphragmatic hernia is a rare condition most commonly reported in cats and dogs. A 6-week-old Holstein heifer calf with a congenital peritoneopericardial diaphragmatic hernia complicated by a perforated abomasal ulcer is described. The clinical signs and pathological findings are compared with those reported in other species. PMID:24155464

  7. A fatal case of complicated congenital peritoneopericardial diaphragmatic hernia in a Holstein calf

    OpenAIRE

    Hicks, Keltie A.; Britton, Ann P.

    2013-01-01

    Congenital peritoneopericardial diaphragmatic hernia is a rare condition most commonly reported in cats and dogs. A 6-week-old Holstein heifer calf with a congenital peritoneopericardial diaphragmatic hernia complicated by a perforated abomasal ulcer is described. The clinical signs and pathological findings are compared with those reported in other species.

  8. Experience with the Management of Congenital Diaphragmatic ...

    African Journals Online (AJOL)

    Those who did not undergo surgery had lower Apgar scores and higher incidence of associated congenital malformations than the patients who underwent surgical repairs. The differences in the mean of 5 minute Apgar scores among the three groups were not statistically significant (p> 0.05). Age at surgery was higher in ...

  9. Use of composite polyester/collagen mesh in the repair of recurrent congenital diaphragmatic hernias

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    Lin C. Wang

    2015-09-01

    Full Text Available Case 1 is an 18 year-old woman with a third recurrence of a left congenital diaphragmatic hernia (CDH. She had previously undergone a primary repair of a recurrence via laparotomy and an additional repair of a second recurrence with PTFE mesh via a thoracotomy. Following her third recurrence she underwent successful laparoscopic repair utilizing composite polyester/collagen (Parietex™ Composite, Covidien, Sofradim, France mesh. Six years following surgery, she has carried a pregnancy to term and has not recurred. Case 2 is a 5 month-old infant who presented with a recurrent right-sided CDH. She initially underwent primary repair via thoracotomy along with a right pneumonectomy at an outside institution. She presented with incarceration of her liver, hepatic venous thrombosis, mediastinal shift, and respiratory distress. She underwent successful repair with composite mesh through a right thoracoabdominal incision. At 8 months post-operatively, she has no evidence of recurrence in spite of the expected mediastinal deviation to the right and right thoracic volume loss as a result of being status post right pneumonectomy. Recurrences occur in a significant number of patients following repair of congenital diaphragmatic hernia, particularly cases in which a mesh implant are utilized. Historically, PTFE has been the product of choice for a diaphragmatic implant by pediatric surgeons. However, this product does not incorporate into surrounding tissues which theoretically places patients at risk for recurrence. Polyester/collagen composite mesh has been used for decades in adults undergoing complex groin and ventral hernia repairs with excellent results. However, its use for congenital diaphragmatic hernias has not been previously described. We present the successful utilization of this product in two cases which were at extremely high risk for future recurrence. Additional investigations should be done and long term follow up regarding application of

  10. Kif7 expression is decreased in the diaphragmatic and pulmonary mesenchyme of nitrofen-induced congenital diaphragmatic hernia.

    Science.gov (United States)

    Takahashi, Toshiaki; Friedmacher, Florian; Takahashi, Hiromizu; Hofmann, Alejandro Daniel; Puri, Prem

    2015-06-01

    Developmental mutations that inhibit diaphragmatic and pulmonary mesenchyme formation have been shown to cause congenital diaphragmatic hernia (CDH) and pulmonary hypoplasia (PH). Kinesin family member 7 (Kif7) plays a crucial role in diaphragmatic and pulmonary morphogenesis by controlling proliferation of mesenchymal cells. Loss of Kif7 has been reported to result in diaphragmatic defects and PH. We hypothesized that diaphragmatic and pulmonary Kif7 expression is decreased in the nitrofen-induced CDH model. Timed-pregnant rats were exposed to either nitrofen or vehicle on gestational day 9 (D9). Fetal diaphragms and lungs were microdissected on D13, D15, and D18, and divided into control and nitrofen-exposed specimens. Gene expression levels of Kif7 were analyzed by qPCR. Immunohistochemical staining was performed to evaluate Kif7 protein expression. Relative mRNA expression of Kif7 was significantly reduced in pleuroperitoneal folds (D13), developing diaphragms and lungs (D15), and fully muscularized diaphragms and differentiated lungs (D18) of nitrofen-exposed fetuses compared to controls. Immunoreactivity/immunofluorescence of Kif7 was markedly decreased in diaphragmatic and pulmonary mesenchyme of nitrofen-exposed fetuses on D13, D15, and D18 compared to controls. Decreased Kif7 expression during diaphragmatic development may interfere with mesenchymal cell proliferation, leading to defective pleuroperitoneal folds, and resulting in diaphragmatic defects and associated PH in the nitrofen-induced CDH model. Copyright © 2015 Elsevier Inc. All rights reserved.

  11. Congenital diaphragmatic hernia with gastric perforation in a newborn female

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    Gowrishankar

    2007-01-01

    Full Text Available Most neonates with congenital diaphragmatic hernia (CDH present with CDH symptoms within the first 24 h of life. However, the presentation may be delayed in 10-20% of the cases. The presenting symptoms are nonspecific and are usually gastrointestinal in nature. We report a case of a 9 day-old neonate presenting with abdominal distention. The investigation was suggestive of CDH with the possibility of perforation which was confirmed by emergency laparotomy. A review of literature revealed one similar case report. This case highlights the risk of bowel incarceration in delayed cases presenting with gastrointestinal symptoms.

  12. Congenital diaphragmatic hernia and complete tracheal rings: Repair on ECMO

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    Sasha J. Tharakan

    2015-12-01

    Full Text Available A term newborn female presented with prenatally diagnosed congenital diaphragmatic hernia and postnatally diagnosed complete tracheal rings and tracheal stenosis. Initially, the spells associated with tracheal stenosis were misdiagnosed as pulmonary hypertension. Bronchoscopy showed a critically narrowed airway, and veno-arterial ECMO stabilized the baby for further workup. The endotracheal tube was removed while on ECMO to avoid further injury to the airway. Staged CDH repair followed by slide tracheoplasty were performed on ECMO. The multidisciplinary approach included neonatology, general surgery, otolaryngology, cardiac surgery and anesthesiology.

  13. Delayed Iatrogenic Diaphragmatic Hernia after Left Lower Lobectomy.

    Science.gov (United States)

    Hong, Tae Hee; Choi, Yong Soo

    2017-12-01

    A 66-year-old patient undergoing regular follow-up at Samsung Medical Center after left lower lobectomy visited the emergency department around 9 months postoperatively because of nausea and vomiting after routine esophagogastroduodenoscopy at a local clinic. Abdominal computed tomography showed the stomach herniating into the left thoracic cavity. We explored the pleural cavity via video-assisted thoracic surgery (VATS). Adhesiolysis around the herniated stomach and laparotomic reduction under video assistance were successfully performed. The diaphragmatic defect was repaired via VATS. The postoperative course was uneventful, and he was discharged with resolved digestive tract symptoms.

  14. Diaphragmatic defect in trisomy 13

    International Nuclear Information System (INIS)

    Reinbold, W.D.; Reinwein, H.; Back, E.

    1986-01-01

    Congenital diaphragmatic defect is often combined with other malformations that are severe or fatal. The rare finding of a congenital diaphragmatic defect in a newborn with trisomy 13 is reported. The newborn died within 2 days. Postmortem examination showed typical malformations due to trisomy 13 besides a diaphragmatic defect of left retrosternal position. Karyotype revealed a 13/14 translocation of trisomy 13. (orig.) [de

  15. Congenital diaphragmatic hernia with concurrent aplasia of the pericardium in a foal.

    Science.gov (United States)

    Tăbăran, Alexandru-Flaviu; Nagy, Andras Laszlo; Cătoi, Cornel; Morar, Iancu; Tăbăran, Alexandra; Mihaiu, Marian; Bolfa, Pompei

    2015-12-30

    In veterinary medicine congenital abnormalities of the diaphragm and pericardium are rare, idiopathic malformations, being reported mainly in dogs. This report documents an unusual case of developmental defects in a foal consisting of diaphragmatic hernia concurrent with pericardial aplasia. Following a normal delivery, a full term, female Friesian stillborn foal with the placenta was presented for necropsy. External morphological examination indicated a normally developed foal. At necropsy, a large oval defect (approximately 20 × 15 cm in size) was observed in the left-dorsal side of the diaphragm (left lumbocostal triangle). This defect allowed the intestinal loops, spleen and partially the liver to translocate into the thorax. The loops of the left ascending colon, including the pelvic flexure and partially the small intestine covered the cranial and dorsal posterior parts of the heart due to the complete absence of the left pericardium. The remaining pericardium presented as a white, semi-transparent strip, partially covering the right side of the heart. The left lung and the main bronchus were severely hypoplastic to approximately one-fifth the size of their right homologue. The intermediate part of the liver, containing mainly the enlarged quadrate lobe was translocated in the thorax, severely enlarged and showed marked fibrosis. Histologically in the herniated lobes we diagnosed hepatic chronic passive congestion, telangiectasia and medial hypertrophy of blood vessels. Concomitant malformation involving diaphragmatic hernia and pericardial aplasia in horses have not been previously reported. Moreover, this is the first case describing pericardial aplasia in horse.

  16. Congenital diaphragmatic hernia in Smith-Magenis syndrome: a possible locus at chromosome 17p11.2.

    Science.gov (United States)

    Sanford, E F; Bermudez-Wagner, K; Jeng, L J B; Rauen, K A; Slavotinek, Anne M

    2011-11-01

    We report on a 7-month-old girl with Smith-Magenis syndrome (SMS) due to a 4.76-Mb deletion of 17p12-17p11.2 detected by array comparative genomic hybridization. She was also affected with a left-sided congenital diaphragmatic hernia (CDH) and cardiac anomalies including an atypical atrioventricular canal defect and a cleft mitral valve. To our knowledge, this is the first reported case of a patient with both SMS and CDH. There are numerous chromosomal regions in which duplications, deletions, inversions, or translocations have been associated with CDH, but none have previously been reported at or close to 17p11.2. We discuss candidate genes for the diaphragmatic defect in this patient. Our case demonstrates that it is important to consider the possibility of SMS in non-isolated cases of diaphragmatic hernia. Copyright © 2011 Wiley Periodicals, Inc.

  17. Long-term pulmonary sequelae in children with congenital diaphragmatic hernia.

    NARCIS (Netherlands)

    H. IJsselstijn (Hanneke); W.C.J. Hop (Wim); D. Tibboel (Dick); J. Molenaar (Jan); J.C. de Jongste (Johan)

    1997-01-01

    textabstractNeonates with congenital diaphragmatic hernia (CDH) often suffer from respiratory insufficiency due to lung hypoplasia and pulmonary hypertension. Artificial ventilation is frequently required, and this leads to a high incidence of bronchopulmonary dysplasia.

  18. A Dive into the Wondrous World of Congenital Diaphragmatic Hernia : An international multicenter clinical approach

    NARCIS (Netherlands)

    K.G. Snoek (Kitty)

    2016-01-01

    markdownabstractThe research described in this thesis addressed several aspects of the management of congenital diaphragmatic hernia (CDH) after the introduction of a standardized neonatal treatment protocol. Most studies involved multicentre collaborative efforts of members of the CDH EURO

  19. Preoperative cardiorespiratory trends in infants with congenital diaphragmatic hernia.

    Science.gov (United States)

    Moffitt, S T; Schulze, K F; Sahni, R; Wung, J T; Myers, M M; Stolar, C J

    1995-04-01

    The objective of this study was to determine the cardiovascular and pulmonary adaptations of infants with congenital diaphragmatic hernia (CDH) from birth until delayed surgery through the use of continuous monitoring. Continuous cardiovascular (HR, heart rate variability [HR-SD], BP, blood pressure variability [BP-SD], and oxygen saturation) and ventilatory (minute volume, airway pressure, and effective compliance) measurements were made on-line, using a computerized whole-body plethysmograph-incubator (Vital-trends, VT1000), in nine ventilated infants with CDH. Data collection commenced at birth and continued until surgery. Minute mean values for each variable were recorded. Hourly means were computed from the minute means, averaged across infants each hour over the first 50 hours of life, and regressed against postnatal age. Results showed a significant increase in BP (P newborn infants. Deviation from these idealized patterns may identify an infant who is not responding satisfactorily to the given therapy and who may require alternative treatment modalities.

  20. Congenital peritoneopericardial diaphragmatic hernia in a terrier dog

    Directory of Open Access Journals (Sweden)

    Reza Kheirandish

    2014-06-01

    Full Text Available A one-month-old male terrier dog was referred in shock status with a history of anorexia, tachypnea, abdominal distention and progressive weight loss. Auscultation of right side of the lungs found enhanced respiratory noises. The thorough auscultation of the opposite side of the chest revealed the presence of typical intestinal sounds. Cardiac auscultation revealed muffled heart sounds and a diminished palpable precordial cardiac impulse was evident. The radiograph showed the presence of gas within the bowel in abrupt contrast to the adjacent structures of soft tissue opacity. Conservative treatment was failed and the animal died. At necropsy, cranial displacement of abdominal viscera into the pericardial sac was seen. A definitive diagnosis of peritoneopericardial diaphragmatic hernia was made. Although congenital pericardial diseases are rare in dogs, awareness of the clinical manifestation of these kinds of defects combined with early use of available imaging modalities can yield a preoperative diagnosis.

  1. Delayed left traumatic diaphragmatic hernia repaired by laparoscopic surgery.

    Science.gov (United States)

    Asakage, N

    2011-11-01

    A 77-year-old man injured himself when he fell heavily on the left side of his chest. He had massive subcutaneous emphysema, bleeding, and left hemopneumothorax. He also fractured his seventh through tenth ribs; a fragment of the ninth rib was displaced into the thoracic cavity. The severity of the damage and the patient's pain was assessed using the Abbreviated Injury Scale 1990 (1998 update) as level 3. He was treated with conservative therapy and discharged on the 16 days after the injury. However, the following day, he had acute upper abdominal pain, his blood pressure dropped to 40 s, and he was readmitted. A chest CT showed the transverse colon was prolapsed in the thoracic cavity. The patient was diagnosed as having a delayed traumatic diapharagmatic hernia. A laparoscopic repair was performed. The rupture was classified as a IIIb-type diaphragmatic injury according to the Japanese Association for the Surgery of Trauma's classification system. It is believed that a fragment of a fractured rib that had been displaced in the thoracic cavity ruptured the diaphragm sharply. Since traumatic diapharagmatic hernia rarely occurs, it is relatively difficult to diagnose at the first examination. This condition has a high mortality rate because of the associated injuries. Surgery is the only treatment, but it should only be considered after a second examination. Herein, I report my experience with a case of delayed diaphragmatic hernia repaired by laparoscopic surgery. © 2011 Japan Society for Endoscopic Surgery, Asia Endosurgery Task Force and Blackwell Publishing Asia Pty Ltd.

  2. Fetoscopic tracheal occlusion for severe congenital diaphragmatic hernia: retrospective study

    Directory of Open Access Journals (Sweden)

    Angélica de Fátima de Assunção Braga

    Full Text Available Abstract Background and objectives: The temporary fetal tracheal occlusion performed by fetoscopy accelerates lung development and reduces neonatal mortality. The aim of this paper is to present an anesthetic experience in pregnant women, whose fetuses have diaphragmatic hernia, undergoing fetoscopic tracheal occlusion (FETO. Method: Retrospective, descriptive study, approved by the Institutional Ethics Committee. Data were obtained from medical and anesthetic records. Results: FETO was performed in 28 pregnant women. Demographic characteristics: age 29.8 ± 6.5; weight 68.64 ± 12.26; ASA I and II. Obstetric: IG 26.1 ± 1.10 weeks (in FETO; 32.86 ± 1.58 (reversal of occlusion; 34.96 ± 2.78 (delivery. Delivery: cesarean section, vaginal delivery. Fetal data: Weight (g in the occlusion and delivery times, respectively (1045.82 ± 222.2 and 2294 ± 553; RPC in FETO and reversal of occlusion: 0.7 ± 0.15 and 1.32 ± 0.34, respectively. Preoperative maternal anesthesia included ranitidine and metoclopramide, nifedipine (VO and indomethacin (rectal. Preanesthetic medication with midazolam IV. Anesthetic techniques: combination of 0.5% hyperbaric bupivacaine (5-10 mg and sufentanil; continuous epidural predominantly with 0.5% bupivacaine associated with sufentanil, fentanyl, or morphine; general. In 8 cases, there was need to complement via catheter, with 5 submitted to PC and 3 to BC. Thirteen patients required intraoperative sedation; ephedrine was used in 15 patients. Fetal anesthesia: fentanyl 10-20 mg.kg-1 and pancuronium 0.1-0.2 mg.kg-1 (IM. Neonatal survival rate was 60.7%. Conclusion: FETO is a minimally invasive technique for severe congenital diaphragmatic hernia repair. Combined blockade associated with sedation and fetal anesthesia proved safe and effective for tracheal occlusion.

  3. Late return of function after intrathoracic torsion of the spleen in congenital diaphragmatic hernia

    DEFF Research Database (Denmark)

    Thorup, Jørgen Mogens; Pedersen, P V

    1986-01-01

    A case of late presentation of a left posterolateral diaphragmatic hernia in a four-year-old boy is reported. Shortly after incidental diagnosis of the diaphragmatic hernia, he was admitted with acute abdominal symptoms and laparotomy was performed. The stomach, small intestine, part of the colon...

  4. Absorbable versus nonabsorbable mesh repair of congenital diaphragmatic hernias in a growing animal model.

    Science.gov (United States)

    Gonzalez, Rodrigo; Hill, Sarah J; Mattar, Samer G; Lin, Edward; Ramshaw, Bruce J; Smith, C Daniel; Wulkan, Mark L

    2011-06-01

    The repair of large congenital diaphragmatic hernia frequently results in patch disruption and recurrence as patients grow in size. Absorbable meshes allow for ingrowth of endogenous tissue as they are degraded, providing a more natural and durable repair. The aim of this study was to compare the characteristics of the new diaphragmatic tissue between an absorbable biologic mesh and a nonabsorbable mesh for repairing diaphragmatic hernia in a growing animal model. The left hemi-diaphragm of twenty 2-month-old Yucatan pigs was nearly completely resected. Small intestinal submucosa (SIS; Cook Biotech, Lafayette, IN) and expanded polytetrafluoroethylene (ePTFE; W.L. Gore & Associates, Flagstaff, AZ) were randomly assigned to cover the defect in 10 animals each, and were survived for 6 months. During necropsy, newly formed diaphragmatic tissue was evaluated and compared between the two groups. At necropsy, the animals had tripled their weight. Patch disruption and herniation occurred in 3 animals in the ePTFE group and none in the SIS group. The SIS mesh had better integration to the chest wall (2.8 ± 0.2 versus 1.3 ± 0.3), more muscle growth within the newly formed diaphragmatic tissue (1.9 ± 0.2 versus 0.4 ± 0.2), and less fibrotic tissue (2.1 ± 0.5 versus 3.4 ± 0.4) than ePTFE. There was no difference between SIS and ePTFE in terms of adhesion scores to the lung (2 ± 0.4 versus 2.4 ± 0.4) and liver (1.8 ± 0.3 versus 2.2 ± 0.5). SIS allows for tissue ingrowth from surrounding tissue as it degrades, providing a more durable repair with 30% less incidence of herniation in a porcine model. As the diaphragm grows, SIS resulted in a more natural repair of the defect with more tissue growth, better tissue integration, and a comparable adhesion formation to ePTFE.

  5. Congenital diaphragmatic hernia as a part of Nance-Horan syndrome?

    Science.gov (United States)

    Kammoun, Molka; Brady, Paul; De Catte, Luc; Deprest, Jan; Devriendt, Koenraad; Vermeesch, Joris Robert

    2018-03-01

    Nance-Horan syndrome is a rare X-linked developmental disorder characterized by bilateral congenital cataract, dental anomalies, facial dysmorphism, and intellectual disability. Here, we identify a patient with Nance-Horan syndrome caused by a new nonsense NHS variant. In addition, the patient presented congenital diaphragmatic hernia. NHS gene expression in murine fetal diaphragm was demonstrated, suggesting a possible involvement of NHS in diaphragm development. Congenital diaphragmatic hernia could result from NHS loss of function in pleuroperitoneal fold or in somites-derived muscle progenitor cells leading to an impairment of their cells migration.

  6. Clinical and laboratory diagnosis of congenital Zika virus syndrome and diaphragmatic unilateral palsy: case report

    Directory of Open Access Journals (Sweden)

    Alex Sandro Rolland Souza

    Full Text Available Abstract Introduction: several birth defects associated to congenital Zika virus infection have been reported, although the clinical features have not been fully characterized. Description: this is the first case report on unilateral diaphragmatic paralysis diagnosed on a neonate with congenital Zika confirmed by the examination of the amniotic fluid through polymerase chain reaction (ZIKV RT-PCR and the examination of cerebrospinal fluid by serological test (IgM ZIKV-ELISA after birth. The main manifestations detected by intrauterine ultrasound were: microcephaly, ventriculomegaly, intracranial calcifications, enlarged cisterna magna, increased amniotic fluid index and fetal akinesia syndrome. The newborn had acute respiratory failure in the first hours of life, requiring mechanical ventila-tion. The X- ray of the chest showed unilateral diaphragmatic paralysis and cardiomegaly. Discussion: diaphragmatic palsy in congenital Zika has not been previously reported, the etiopathogenic mechanisms of this event in congenital Zika virus needs to be elucidated.

  7. Epidemiology of congenital diaphragmatic hernia in Europe : a register-based study

    NARCIS (Netherlands)

    McGivern, Mark R.; Best, Kate E.; Rankin, Judith; Wellesley, Diana; Greenlees, Ruth; Addor, Marie-Claude; Arriola, Larraitz; de Walle, Hermien; Barisic, Ingeborg; Beres, Judit; Bianchi, Fabrizio; Calzolari, Elisa; Doray, Berenice; Draper, Elizabeth S.; Garne, Ester; Gatt, Miriam; Haeusler, Martin; Khoshnood, Babak; Klungsoyr, Kari; Latos-Bielenska, Anna; O'Mahony, Mary; Braz, Paula; McDonnell, Bob; Mullaney, Carmel; Nelen, Vera; Queisser-Luft, Anette; Randrianaivo, Hanitra; Rissmann, Anke; Rounding, Catherine; Sipek, Antonin; Thompson, Rosie; Tucker, David; Wertelecki, Wladimir; Martos, Carmen

    Introduction Published prevalence rates of congenital diaphragmatic hernia (CDH) vary. This study aims to describe the epidemiology of CDH using data from high-quality, population-based registers belonging to the European Surveillance of Congenital Anomalies (EUROCAT). Methods Cases of CDH delivered

  8. The Cellular Origin of Congenital Diaphragmatic Hernia and Potential Translational Approaches

    NARCIS (Netherlands)

    H.M. Kool (Heleen)

    2018-01-01

    markdownabstractCongenital diaphragmatic hernia (CDH) is a life-threatening congenital disease which occurs approximately 1:2500 life births. CDH is characterized by a defect in the diaphragm, pulmonary hypoplasia and pulmonary hypertension (PH). The PH associated with CDH is the cause of long

  9. Surgical management of the newborn with congenital diaphragmatic hernia.

    Science.gov (United States)

    Tsao, Kuojen; Lally, Kevin P

    2011-01-01

    Despite advances in the surgical treatment and medical management over the last 20 years, neonates with congenital diaphragmatic hernia (CDH) remain one of the most challenging patient groups for all clinicians. Treatment strategies have shifted from emergent surgical repair and maximum ventilatory support to delayed repair and preoperative hemodynamic stabilization with lung-sparing ventilation strategies and extracorporeal membrane oxygenation. Subsequently, overall survival has improved to as high as 80% in some centers. However, specific treatment criteria are vague and highly variable amongst centers. This lack of consensus of these treatment modalities remains elusive due to the heterogeneity in disease severity as well as heterogeneity in patient care amongst centers. As a result of the rare incidence of disease and limited experience of individual centers, the evidence for CDH is typically reported as a homogenous disease largely supported by case series and networked-based studies. To better evaluate the data and compare treatment strategies, a classification and stratification of disease and centers is needed. Copyright © 2010 S. Karger AG, Basel.

  10. Lung eicosanoids in perinatal rats with congenital diaphragmatic hernia

    Directory of Open Access Journals (Sweden)

    H. Ijsselstijn

    1997-01-01

    Full Text Available Abnormal levels of pulmonary eicosanoids have been reported in infants with persistent pulmonary hypertension (PPH and congenital diaphragmatic hernia (CDH. We hypothesized that a dysbalance of vasoconstrictive and vasodilatory eicosanoids is involved in PPH in CDH patients. The levels of several eicosanoids in lung homogenates and in bronchoalveolar lavage fluid of controls and rats with CDH were measured after caesarean section or spontaneous birth. In controls the concentration of the stable metabolite of prostacyclin (6-keto-PGF1α, thromboxane A2 (TxB2, prostaglandin E2 (PGE2, and leukotriene B4 (LTB4 decreased after spontaneous birth. CDH pups showed respiratory insufficiency directly after birth. Their lungs had higher levels of 6- keto-PGF1α, reflecting the pulmonary vasodilator prostacyclin (PGI2, than those of controls. We conclude that in CDH abnormal lung eicosanoid levels are present perinatally. The elevated levels of 6-keto-PGF1α in CDH may reflect a compensation mechanism for increased vascular resistance.

  11. Sepsis risk factors in infants with congenital diaphragmatic hernia.

    Science.gov (United States)

    Levy, Michaël; Le Sache, Nolwenn; Mokhtari, Mostafa; Fagherazzi, Guy; Cuzon, Gaelle; Bueno, Benjamin; Fouquet, Virginie; Benachi, Alexandra; Eleni Dit Trolli, Sergio; Tissieres, Pierre

    2017-12-01

    Congenital diaphragmatic hernia (CDH) is a rare congenital anomaly and remains among the most challenging ICU-managed disease. Beside severe pulmonary hypertension, lung hypoplasia and major abdominal surgery, infective complications remain major determinants of outcome. However, the specific incidence of sepsis as well as associated risk factors is unknown. This prospective, 4-year observational study took place in the pediatric intensive care and neonatal medicine department of the Paris South University Hospitals (Le Kremlin-Bicêtre, France), CDH national referral center and involved 62 neonates with CDH. During their ICU stay, 28 patients (45%) developed 38 sepsis episodes. Ventilator-associated pneumonia (VAP: 23/38; 31.9 VAP per 1000 days of mechanical ventilation) and central line-associated blood stream infections (CLABSI: 5/38; 5.5 per 1000 line days) were the most frequently encountered infections. Multivariate analysis showed that gestational age at birth and intra-thoracic position of liver were significantly associated with the occurrence of sepsis. Infected patients had longer duration of mechanical and noninvasive ventilation (16.2 and 5.8 days, respectively), longer delay to first feeding (1.2 days) and a longer length of stay in ICU (23 days), but there was no difference in mortality. Healthcare-associated infections, and more specifically VAP, are the main infective threat in children with CDH. Sepsis has a significant impact on the duration of ventilator support and ICU length of stay but does not impact mortality. Low gestational age and intra-thoracic localization of the liver are two independent risk factors associated with sepsis.

  12. Bilious emesis as presenting symptom of congenital diaphragmatic hernia in an 8-month-old

    Directory of Open Access Journals (Sweden)

    Daphney Clermont

    2017-12-01

    Full Text Available Although congenital diaphragmatic hernia (CDH primarily presents in either the prenatal or neonatal period, late presentation has a reported incidence of 2.5–25%. This case report describes an 8-month-old-male who presented to the emergency department with dehydration and a 24-h history of bilious emesis. Work-up led to the diagnosis of a left-sided Bochdalek CDH. He subsequently underwent laparoscopic diaphragmatic hernia repair with reduction of near-total length of incarcerated bowel. The patient had an uneventful recovery. Babies born with CDH are typically unstable at birth, and even with repair, the mortality rate remains high. However, in the case of delayed CDH diagnosis where there are no perinatal issues, surgical repair has very high success rates, provided that there are no complications regarding the delay. If there is not a high index of suspicion based on the patient's history and exam, delayed diagnosis and intervention with late CDH presentations can lead to complications which could otherwise be minimized. The purpose of this case report is to raise awareness and contribute to the growing knowledge about delayed CDH presentation among physicians and surgeons to facilitate early diagnosis and care of a morbid yet manageable condition.

  13. Radiological diagnosis of congenital diaphragmatic hernia in 17th century Korean mummy.

    Directory of Open Access Journals (Sweden)

    Yi-Suk Kim

    Full Text Available Congenital diaphragmatic hernia (CDH is a birth defect of the diaphragm resulting in pulmonary sequelae that threaten the lives of infants. In computed tomography (CT images of a 17th century middle-aged male mummy (the Andong mummy, we observed that the abdominal contents had protruded into the right thoracic cavity through the diaphragmatic defect, accompanied by a mediastinal shift to the left. On autopsy, the defect in the right posterolateral aspect of the diaphragm was reconfirmed, as was the herniation of the abdominal organs. The herniated contents included the right lobe of the liver, the pyloric part of the stomach, a part of the greater omentum, and the right colic flexure connecting the superior part of the ascending colon and the right part of the transverse colon. Taking our CT and autopsy results together, this case was diagnosed as the Bochdalek-type CDH. Herein we make the first ever report of a CT-assisted diagnosis of a pre-modern historical case of CDH. Our results show the promising utility of this modality in investigations of mummified human remains archaeologically obtained.

  14. Congenital diaphragmatic hernia (CDH) etiology as revealed by pathway genetics.

    Science.gov (United States)

    Kantarci, Sibel; Donahoe, Patricia K

    2007-05-15

    Congenital diaphragmatic hernia (CDH) is a common birth defect with high mortality and morbidity. Two hundred seventy CDH patients were ascertained, carefully phenotyped, and classified as isolated (diaphragm defects alone) or complex (with additional anomalies) cases. We established different strategies to reveal CDH-critical chromosome loci and genes in humans. Candidate genes for sequencing analyses were selected from CDH animal models, genetic intervals of recurrent chromosomal aberration in humans, such as 15q26.1-q26.2 or 1q41-q42.12, as well as genes in the retinoic acid and related pathways and those known to be involved in embryonic lung development. For instance, FOG2, GATA4, and COUP-TFII are all needed for both normal diaphragm and lung development and are likely all in the same genetic and molecular pathway. Linkage analysis was applied first in a large inbred family and then in four multiplex families with Donnai-Barrow syndrome (DBS) associated with CDH. 10K SNP chip and microsatellite markers revealed a DBS locus on chromosome 2q23.3-q31.1. We applied array-based comparative genomic hybridization (aCGH) techniques to over 30, mostly complex, CDH patients and found a de novo microdeletion in a patient with Fryns syndrome related to CDH. Fluorescence in situ hybridization (FISH) and multiplex ligation-dependent probe amplification (MLPA) techniques allowed us to further define the deletion interval. Our aim is to identify genetic intervals and, in those, to prioritize genes that might reveal molecular pathways, mutations in any step of which, might contribute to the same phenotype. More important, the elucidation of pathways may ultimately provide clues to treatment strategies. (c) 2007 Wiley-Liss, Inc.

  15. Prenatal interventions for congenital diaphragmatic hernia for improving outcomes.

    Science.gov (United States)

    Grivell, Rosalie M; Andersen, Chad; Dodd, Jodie M

    2015-11-27

    Congenital diaphragmatic hernia (CDH), is an uncommon but severe condition in which there is a developmental defect in the fetal diaphragm, resulting in liver and bowel migrating to the chest cavity and impairing lung development and function for the neonate. This condition can be diagnosed during pregnancy and as such, is potentially amenable to in-utero prenatal intervention. Neonatal surgical repair is possible, but even with early surgical repair and improving neonatal management, neonatal morbidity and mortality is high. Prenatal interventions described to date have included maternal antenatal corticosteroid administration and fetal tracheal occlusion, with both methods aiming to improve lung growth and maturity. However surgical procedures have potential maternal complications, as the uterus and amniotic sac are breached in order to gain access to the fetus. To compare the effects of prenatal versus postnatal interventions for CDH on perinatal mortality and morbidity, longer-term infant outcomes and maternal morbidity, and to compare the effects of different prenatal interventions with each other. We searched the Cochrane Pregnancy and Childbirth Group's Trials Register (31 August 2015) and reference lists of retrieved studies. All published (including those published in abstract form), unpublished, and ongoing randomised controlled trials comparing prenatal and postnatal interventions for fetuses with CDH. Quasi-RCTs were eligible for inclusion but none were identified. Trials using a cross-over design are not eligible for inclusion. Two review authors evaluated trials for inclusion and methodological quality without consideration of their results according to the stated eligibility criteria and extracted data independently. Data were checked for accuracy. We identified 11 studies for potential inclusion. Of those, we included three studies involving 97 women. Two additional studies are ongoing.Two trials examined in-utero fetal tracheal occlusion with

  16. Prenatal prediction of neonatal morbidity in survivors with congenital diaphragmatic hernia: a multicenter study.

    NARCIS (Netherlands)

    Jani, J.C.; Benachi, A.; Nicolaides, K.H.; Allegaert, K.; Gratacos, E.; Mazkereth, R.; Matis, J.; Tibboel, D.; Heyst, A.F.J. van; Storme, L.; Rousseau, V.; Greenough, A.; Deprest, J.A.; Eggink, A.J.

    2009-01-01

    OBJECTIVES: To investigate the value of the observed to expected fetal lung area to head circumference ratio (o/e LHR) and liver position in the prediction of neonatal morbidity in survivors with congenital diaphragmatic hernia (CDH). METHODS: Neonatal morbidity was recorded in 100 consecutive cases

  17. Congenital Diaphragmatic Hernia in a Case of Patau Syndrome: A Rare Association

    Science.gov (United States)

    A, Jain; P, Kumar; A, Jindal; Yk, Sarin

    2015-01-01

    Congenital diaphragmatic hernia (CDH) occurs in 5-10% associated with chromosomal abnormalities like, Pallister Killian syndrome, Trisomy 18, and certain deletions.. Association of CDH with trisomy 13 (Patau syndromes) is very rare. Here, we report such an unusual association, where surgical repair was done, but eventually the case succumbed as a result of multiple fatal co-morbidities. PMID:26034714

  18. Psychological outcome and quality of life in children born with congenital diaphragmatic hernia

    NARCIS (Netherlands)

    Peetsold, M.; Huisman, J.; Hofman, V.E.; Heij, H.A.; Raat, H.; Gemke, R.J.B.J.

    2009-01-01

    OBJECTIVE: To assess psychological and social functioning as well as health-related quality of life and its early determinants in children born with congenital diaphragmatic hernia (CDH). DESIGN: Cross-sectional follow-up study. SETTING: Outpatient clinic of a tertiary care hospital. PARTICIPANTS:

  19. Inhalation of nitric oxide as a treatment of pulmonary hypertension in congenital diaphragmatic hernia

    DEFF Research Database (Denmark)

    Henneberg, Steen Winther; Jepsen, S; Andersen, P K

    1995-01-01

    Congenital diaphragmatic hernia (CDH) still has a mortality risk of around 40%. The concomitant pulmonary hypoplasia and the persistent pulmonary hypertension are of major prognostic importance. The use of a selective pulmonary vasodilator may revert this vicious circle that is fatal to many...

  20. Standardized postnatal management of infants with congenital diaphragmatic hernia in Europe: the CDH EURO Consortium consensus.

    NARCIS (Netherlands)

    Reiss, I.; Schaible, T.; Hout, L. van den; Capolupo, I.; Allegaert, K.; Heyst, A.F.J. van; Gorett Silva, M.; Greenough, A.; Tibboel, D.

    2010-01-01

    Congenital diaphragmatic hernia (CDH) is associated with high mortality and morbidity. To date, there are no standardized protocols for the treatment of infants with this anomaly. However, protocols based on the literature and expert opinion might improve outcome. This paper is a consensus statement

  1. A Black Hole? Epidemiological and molecular biological studies on the etiology of Congenital Diaphragmatic Hernia

    NARCIS (Netherlands)

    L.W.J.E. Beurkens (Leonardus)

    2010-01-01

    textabstractCongenital Diaphragmatic Hernia (CDH) is a severe birth defect that affects approximately 1 in 3,000 newborns. The etiology of CDH is largely unknown. The clinical presentation is variable, but is usually characterized by cardiopulmonary distress caused by underdevelopment of the lungs

  2. Expression of hypoxia-inducible factors, regulators, and target genes in congenital diaphragmatic hernia patients

    NARCIS (Netherlands)

    I.W.J.M. van der Horst; P. Rajatapiti (Prapapan); P. van der Voorn (Paul); F.H. van Nederveen (Francien); D. Tibboel (Dick); R.J. Rottier (Robbert); I.K.M. Reiss (Irwin); R.R. de Krijger (Ronald)

    2011-01-01

    textabstractCongenital diaphragmatic hernia (CDH) is associated with lung hypoplasia and pulmonary hypertension and has high morbidity and mortality rates. The cause and pathophysiology of CDH are not fully understood. However, impaired angiogenesis appears to play an important role in the

  3. Standardized postnatal management of infants with congenital diaphragmatic hernia in Europe: The CDH EURO consortium consensus

    NARCIS (Netherlands)

    I.K.M. Reiss (Irwin); T. Schaible (Thomas); L. de Jongste-van den Hout (Lieke); I. Capolupo (Irma); K.M. Allegaert (Karel); A.F.J. van Heijst (Arno); M. Gorett Silva; A. Greenough; D. Tibboel (Dick)

    2010-01-01

    textabstractCongenital diaphragmatic hernia (CDH) is associated with high mortality and morbidity. To date, there are no standardized protocols for the treatment of infants with this anomaly. However, protocols based on the literature and expert opinion might improve outcome. This paper is a

  4. Congenital Diaphragmatic Hernia in a Case of Patau Syndrome: A Rare Association

    OpenAIRE

    A, Jain; P, Kumar; A, Jindal; Yk, Sarin

    2015-01-01

    Congenital DiaphragmaticHernia (CDH) occurs in 5-10% associated with chromosomal abnormalities like, Pallister Killian syndrome, Trisomy 18, and certain deletions. Association of CDH with trisomy 13 (Patau syndromes) is very rare. Here, we report such an unusual association, where surgical repair was done, but eventually the case succumbed as a result of multiple fatal co-morbidities.

  5. Congenital diaphragmatic hernia in a case of patau syndrome: a rare association.

    Science.gov (United States)

    A, Jain; P, Kumar; A, Jindal; Yk, Sarin

    2015-01-01

    Congenital diaphragmatic hernia (CDH) occurs in 5-10% associated with chromosomal abnormalities like, Pallister Killian syndrome, Trisomy 18, and certain deletions.. Association of CDH with trisomy 13 (Patau syndromes) is very rare. Here, we report such an unusual association, where surgical repair was done, but eventually the case succumbed as a result of multiple fatal co-morbidities.

  6. Congenital Diaphragmatic Hernia: Long-term Risk of Gastroesophageal Reflux Disease

    NARCIS (Netherlands)

    Peetsold, Marieke G.; Kneepkens, C. M. F. Frank; Heij, Hugo A.; Ijsselstijn, Hanneke; Tibboel, Dick; Gemke, Reinoud J. B. J.

    2010-01-01

    Objectives: Gastroesophageal reflux disease (GERD) is a well-recognized consequence of congenital diaphragmatic hernia (CDH). Results of studies examining predictive factors for early and late GERD are inconclusive. The aim of this study was to assess the incidence of early ( <2 years) and late GERD

  7. Pulmonary surfactant protein A, B, and C mRNA and protein expression in the nitrofen-induced congenital diaphragmatic hernia rat model

    NARCIS (Netherlands)

    van Tuyl, Minke; Blommaart, Piet jan E.; Keijzer, Richard; Wert, Susan E.; Ruijter, Jan M.; Lamers, Wouter H.; Tibboel, Dick

    2003-01-01

    Neonates with congenital diaphragmatic hernia (CDH) suffer from a diaphragmatic defect, lung hypoplasia, and pulmonary hypertension, with poor lung function forming the major clinical challenge. Despite prenatal diagnosis and advanced postnatal treatment strategies, the mortality rate of CDH is

  8. Pulmonary Vascular Defects in Congenital Diaphragmatic Hernia : the quest for early factors and intervention : Pulmonale vasculaire defecten in congenitale hernia diafragmatica : de zoektocht naar vroege factoren en interventie

    NARCIS (Netherlands)

    D.S. Mous (Daphne)

    2017-01-01

    markdownabstractCongenital diaphragmatic hernia (CDH) is a severe anomaly characterized by a diaphragmatic defect, lung hypoplasia and pulmonary hypertension. The associated pulmonary abnormalities are responsible for the high morbidity and mortality among patients with this disease. Vasodilator

  9. Early neonatal echocardiographic findings in an experimental rabbit model of congenital diaphragmatic hernia

    Directory of Open Access Journals (Sweden)

    P.H. Manso

    2015-03-01

    Full Text Available This study aimed to demonstrate that congenital diaphragmatic hernia (CDH results in vascular abnormalities that are directly associated with the severity of pulmonary hypoplasia and hypertension. These events increase right ventricle (RV afterload and may adversely affect disease management and patient survival. Our objective was to investigate cardiac function, specifically right ventricular changes, immediately after birth and relate them to myocardial histological findings in a CDH model. Pregnant New Zealand rabbits underwent the surgical procedure at 25 days of gestation (n=14. CDH was created in one fetus per horn (n=16, and the other fetuses were used as controls (n=20. At term (30 days, fetuses were removed, immediately dried and weighed before undergoing four-parameter echocardiography. The lungs and the heart were removed, weighed, and histologically analyzed. CDH animals had smaller total lung weight (P<0.005, left lung weight (P<0.005, and lung-to-body ratio (P<0.005. Echocardiography revealed a smaller left-to-right ventricle ratio (LV/RV, P<0.005 and larger diastolic right ventricle size (DRVS, P<0.007. Histologic analysis revealed a larger number of myocytes undergoing mitotic division (186 vs 132, P<0.05 in CDH hearts. Immediate RV dilation of CDH hearts is related to myocyte mitosis increase. This information may aid the design of future strategies to address pulmonary hypertension in CDH.

  10. Management of Postoperative Pulmonary Hypertension by Inhaled Nitric Oxide in a Newborn with Congenital Diaphragmatic Hernia

    International Nuclear Information System (INIS)

    Fettah, N. D.; Dilli, D.; Beken, S.; Zenciroglu, A.; Okumus, N.; Cavusoglu, H.; Ozgur, S.

    2014-01-01

    Postero-lateral congenital diaphragmatic hernia (CDH) is a life threatening anomaly characterized by diaphragmatic defect and intrathoracic herniation of abdominal viscera. In patients with CDH, the lungs are hypoplastic and persistent pulmonary hypertension develops in most cases. Although, inhaled nitric oxide (iNO) results in a reduction in pulmonary hypertension with improvement in oxygenation, its benefit in the patients with CDH remains controversial. In this report, the authors present successful management of postoperative pulmonary hypertension by iNO in a newborn with CDH. (author)

  11. Enhanced expression of vascular endothelial growth factor in lungs of newborn infants with congenital diaphragmatic hernia and pulmonary hypertension

    NARCIS (Netherlands)

    S.M.K. Shehata; W.J. Mooi (Wolter); T. Okazaki (Tadaharu); I. El-Banna; H.S. Sharma (Hari); D. Tibboel (Dick)

    1999-01-01

    textabstractBACKGROUND: Pulmonary hypoplasia accompanied by pulmonary hypertension resistant to treatment is an important feature of congenital diaphragmatic hernia (CDH). The pathogenesis of the pulmonary vascular abnormalities in CDH remains to be elucidated at the

  12. Spatial and temporal expression of glucocorticoid, retinoid, and thyroid hormone receptors is not altered in lungs of congenital diaphragmatic hernia

    NARCIS (Netherlands)

    Rajatapiti, Prapapan; Keijzer, Richard; Blommaart, Pietjan E.; Lamers, Wouter H.; de Krijger, Ronald R.; Visser, Theo J.; Tibboel, Dick; Rottier, Robbert

    2006-01-01

    The degree of associated pulmonary hypoplasia and persistent pulmonary hypertension are major determination factors for survival in congenital diaphragmatic hernia (CDH) patients. Glucocorticoids, thyroid hormone, and vitamin A have been shown to be involved in human lung development. To determine

  13. VEGF receptor expression decreases during lung development in congenital diaphragmatic hernia induced by nitrofen

    Energy Technology Data Exchange (ETDEWEB)

    Sbragia, L. [Divisão de Cirurgia Pediátrica, Departamento de Cirurgia e Anatomia, Faculdade de Medicina de Ribeirão Preto, Universidade de São Paulo, Ribeirão Preto, SP, Brasil, Divisão de Cirurgia Pediátrica, Departamento de Cirurgia e Anatomia, Faculdade de Medicina de Ribeirão Preto, Universidade de São Paulo, Ribeirão Preto, SP (Brazil); Nassr, A.C.C. [Departamento de Hidrobiologia do Centro de Ciências Biológicas e da Saúde, Universidade Federal de São Carlos, São Carlos, SP, Brasil, Departamento de Hidrobiologia do Centro de Ciências Biológicas e da Saúde, Universidade Federal de São Carlos, São Carlos, SP (Brazil); Gonçalves, F.L.L. [Divisão de Cirurgia Pediátrica, Departamento de Cirurgia e Anatomia, Faculdade de Medicina de Ribeirão Preto, Universidade de São Paulo, Ribeirão Preto, SP, Brasil, Divisão de Cirurgia Pediátrica, Departamento de Cirurgia e Anatomia, Faculdade de Medicina de Ribeirão Preto, Universidade de São Paulo, Ribeirão Preto, SP (Brazil); Schmidt, A.F. [Pediatrics House Office, Cincinnati Children' s Hospital Medical Center, Cincinnati, OH, USA, Pediatrics House Office, Cincinnati Children' s Hospital Medical Center, Cincinnati, OH (United States); Zuliani, C.C. [Departamento de Clínica Médica, Faculdade de Ciências Médicas, Universidade Estadual de Campinas, Campinas, SP, Brasil, Departamento de Clínica Médica, Faculdade de Ciências Médicas, Universidade Estadual de Campinas, Campinas, SP (Brazil); Garcia, P.V. [Departamento de Histologia e Embriologia, Instituto de Biologia, Universidade Estadual de Campinas, UNICAMP, Campinas, SP, Brasil, Departamento de Histologia e Embriologia, Instituto de Biologia, Universidade Estadual de Campinas, UNICAMP, Campinas, SP (Brazil); Gallindo, R.M. [Divisão de Cirurgia Pediátrica, Departamento de Cirurgia e Anatomia, Faculdade de Medicina de Ribeirão Preto, Universidade de São Paulo, Ribeirão Preto, SP, Brasil, Divisão de Cirurgia Pediátrica, Departamento de Cirurgia e Anatomia, Faculdade de Medicina de Ribeirão Preto, Universidade de São Paulo, Ribeirão Preto, SP (Brazil); Pereira, L.A.V. [Departamento de Histologia e Embriologia, Instituto de Biologia, Universidade Estadual de Campinas, UNICAMP, Campinas, SP, Brasil, Departamento de Histologia e Embriologia, Instituto de Biologia, Universidade Estadual de Campinas, UNICAMP, Campinas, SP (Brazil)

    2014-02-17

    Changes in vascular endothelial growth factor (VEGF) in pulmonary vessels have been described in congenital diaphragmatic hernia (CDH) and may contribute to the development of pulmonary hypoplasia and hypertension; however, how the expression of VEGF receptors changes during fetal lung development in CDH is not understood. The aim of this study was to compare morphological evolution with expression of VEGF receptors, VEGFR1 (Flt-1) and VEGFR2 (Flk-1), in pseudoglandular, canalicular, and saccular stages of lung development in normal rat fetuses and in fetuses with CDH. Pregnant rats were divided into four groups (n=20 fetuses each) of four different gestational days (GD) 18.5, 19.5, 20.5, 21.5: external control (EC), exposed to olive oil (OO), exposed to 100 mg nitrofen, by gavage, without CDH (N-), and exposed to nitrofen with CDH (CDH) on GD 9.5 (term=22 days). The morphological variables studied were: body weight (BW), total lung weight (TLW), left lung weight, TLW/BW ratio, total lung volume, and left lung volume. The histometric variables studied were: left lung parenchymal area density and left lung parenchymal volume. VEGFR1 and VEGFR2 expression were determined by Western blotting. The data were analyzed using analysis of variance with the Tukey-Kramer post hoc test. CDH frequency was 37% (80/216). All the morphological and histometric variables were reduced in the N- and CDH groups compared with the controls, and reductions were more pronounced in the CDH group (P<0.05) and more evident on GD 20.5 and GD 21.5. Similar results were observed for VEGFR1 and VEGFR2 expression. We conclude that N- and CDH fetuses showed primary pulmonary hypoplasia, with a decrease in VEGFR1 and VEGFR2 expression.

  14. VEGF receptor expression decreases during lung development in congenital diaphragmatic hernia induced by nitrofen

    International Nuclear Information System (INIS)

    Sbragia, L.; Nassr, A.C.C.; Gonçalves, F.L.L.; Schmidt, A.F.; Zuliani, C.C.; Garcia, P.V.; Gallindo, R.M.; Pereira, L.A.V.

    2014-01-01

    Changes in vascular endothelial growth factor (VEGF) in pulmonary vessels have been described in congenital diaphragmatic hernia (CDH) and may contribute to the development of pulmonary hypoplasia and hypertension; however, how the expression of VEGF receptors changes during fetal lung development in CDH is not understood. The aim of this study was to compare morphological evolution with expression of VEGF receptors, VEGFR1 (Flt-1) and VEGFR2 (Flk-1), in pseudoglandular, canalicular, and saccular stages of lung development in normal rat fetuses and in fetuses with CDH. Pregnant rats were divided into four groups (n=20 fetuses each) of four different gestational days (GD) 18.5, 19.5, 20.5, 21.5: external control (EC), exposed to olive oil (OO), exposed to 100 mg nitrofen, by gavage, without CDH (N-), and exposed to nitrofen with CDH (CDH) on GD 9.5 (term=22 days). The morphological variables studied were: body weight (BW), total lung weight (TLW), left lung weight, TLW/BW ratio, total lung volume, and left lung volume. The histometric variables studied were: left lung parenchymal area density and left lung parenchymal volume. VEGFR1 and VEGFR2 expression were determined by Western blotting. The data were analyzed using analysis of variance with the Tukey-Kramer post hoc test. CDH frequency was 37% (80/216). All the morphological and histometric variables were reduced in the N- and CDH groups compared with the controls, and reductions were more pronounced in the CDH group (P<0.05) and more evident on GD 20.5 and GD 21.5. Similar results were observed for VEGFR1 and VEGFR2 expression. We conclude that N- and CDH fetuses showed primary pulmonary hypoplasia, with a decrease in VEGFR1 and VEGFR2 expression

  15. VEGF receptor expression decreases during lung development in congenital diaphragmatic hernia induced by nitrofen

    Directory of Open Access Journals (Sweden)

    L. Sbragia

    2014-02-01

    Full Text Available Changes in vascular endothelial growth factor (VEGF in pulmonary vessels have been described in congenital diaphragmatic hernia (CDH and may contribute to the development of pulmonary hypoplasia and hypertension; however, how the expression of VEGF receptors changes during fetal lung development in CDH is not understood. The aim of this study was to compare morphological evolution with expression of VEGF receptors, VEGFR1 (Flt-1 and VEGFR2 (Flk-1, in pseudoglandular, canalicular, and saccular stages of lung development in normal rat fetuses and in fetuses with CDH. Pregnant rats were divided into four groups (n=20 fetuses each of four different gestational days (GD 18.5, 19.5, 20.5, 21.5: external control (EC, exposed to olive oil (OO, exposed to 100 mg nitrofen, by gavage, without CDH (N-, and exposed to nitrofen with CDH (CDH on GD 9.5 (term=22 days. The morphological variables studied were: body weight (BW, total lung weight (TLW, left lung weight, TLW/BW ratio, total lung volume, and left lung volume. The histometric variables studied were: left lung parenchymal area density and left lung parenchymal volume. VEGFR1 and VEGFR2 expression were determined by Western blotting. The data were analyzed using analysis of variance with the Tukey-Kramer post hoc test. CDH frequency was 37% (80/216. All the morphological and histometric variables were reduced in the N- and CDH groups compared with the controls, and reductions were more pronounced in the CDH group (P<0.05 and more evident on GD 20.5 and GD 21.5. Similar results were observed for VEGFR1 and VEGFR2 expression. We conclude that N- and CDH fetuses showed primary pulmonary hypoplasia, with a decrease in VEGFR1 and VEGFR2 expression.

  16. Coexistence of congenital diaphragmatic hernia and abdominal wall closure defect with chromosomal abnormality: two case reports.

    Science.gov (United States)

    Inoue, Seiichiro; Odaka, Akio; Muta, Yuki; Beck, Yoshifumi; Sobajima, Hisanori; Tamura, Masanori

    2016-01-22

    We reported two rare cases of congenital diaphragmatic hernia with abdominal wall closure defect, which were not associated with septum transversum diaphragmatic defects or Fryns syndrome. Case 1: a Japanese baby boy was delivered at 37 weeks' gestation by urgent cesarean section because of the diagnosis of severe fetal distress. Congenital diaphragmatic hernia with omphalocele was prenatally diagnosed with fetal ultrasound. A ruptured omphalocele was confirmed at delivery. A silo was established on the day of his birth; direct closure of his diaphragmatic defect and abdominal wall closure was performed on the fifth day after his birth. Trisomy 13 was confirmed by genetic examination. His postoperative course was uneventful and he was discharged 5 months postnatally with home oxygen therapy. He was readmitted because of heart failure and died at 6 months. Case 2: a Japanese baby boy, who was prenatally diagnosed with gastroschisis, was delivered at 35 weeks' gestation by urgent cesarean section because of the diagnosis of fetal distress. Silo construction using a wound retractor was performed on the day of his birth and direct abdominal closure was performed on the tenth day after his birth. Trisomy 21 was confirmed by genetic examination. Treatment for his respiratory distress was continued after surgery. A retrosternal hernia was revealed at 6 months and direct closure of retrosternal diaphragm with the resection of hernia sac was performed. His postoperative course was uneventful and he was discharged with home oxygen therapy. Attention should be paid to chromosomal abnormality in cases in which the coexistence of congenital diaphragmatic hernia and abdominal wall closure defect are observed.

  17. Standardization of pulmonary ventilation technique using volume-controlled ventilators in rats with congenital diaphragmatic hernia

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    Rodrigo Melo Gallindo

    Full Text Available OBJECTIVE: To standardize a technique for ventilating rat fetuses with Congenital Diaphragmatic Hernia (CDH using a volume-controlled ventilator. METHODS: Pregnant rats were divided into the following groups: a control (C; b exposed to nitrofen with CDH (CDH; and c exposed to nitrofen without CDH (N-. Fetuses of the three groups were randomly divided into the subgroups ventilated (V and non-ventilated (N-V. Fetuses were collected on day 21.5 of gestation, weighed and ventilated for 30 minutes using a volume-controlled ventilator. Then the lungs were collected for histological study. We evaluated: body weight (BW, total lung weight (TLW, left lung weight (LLW, ratios TLW / BW and LLW / BW, morphological histology of the airways and causes of failures of ventilation. RESULTS: BW, TLW, LLW, TLW / BW and LLW / BW were higher in C compared with N- (p 0.05. The morphology of the pulmonary airways showed hypoplasia in groups N- and CDH, with no difference between V and N-V (p <0.05. The C and N- groups could be successfully ventilated using a tidal volume of 75 ìl, but the failure of ventilation in the CDH group decreased only when ventilated with 50 ìl. CONCLUSION: Volume ventilation is possible in rats with CDH for a short period and does not alter fetal or lung morphology.

  18. Radiographic findings in late-presenting congenital diaphragmatic hernia: helpful imaging findings

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    Muzzafar, Sofia; Swischuk, Leonard E.; Jadhav, Siddharth P. [University of Texas Medical Branch, Department of Pediatric Radiology, Galveston, TX (United States)

    2012-03-15

    Imaging findings in delayed presentation of congenital diaphragmatic hernia can be confusing and misleading, resulting in a delay in diagnosis. To evaluate the often puzzling plain film findings of late-presenting CDH in an effort to determine whether any of the findings could be helpful in arriving at an early diagnosis. We reviewed and documented the plain film findings and clinical data in eight patients seen during the last 20 years with late-presenting CDH. IRB exempt status was obtained in this study. There were five boys and three girls. The age range was 4 months to 12 years with a mean of 2.4 years. Five children presented with acute respiratory problems while three presented with acute abdominal pain. Two children presented with both respiratory and abdominal findings and one also presented with hematemesis. Two children had radiographic findings that were not difficult to analyze while the remaining six had findings that posed initial diagnostic problems. Although not common, late-presenting CDH can result in confusing plain film radiographic findings and a delay in diagnosis. We found that the most important finding in analyzing these radiographs is in evaluating the location and position of the gastric bubble with the more common left-side hernias. (orig.)

  19. Late-presenting congenital diaphragmatic hernia in children: a literature review

    Energy Technology Data Exchange (ETDEWEB)

    Baglaj, Maciej [Wroclaw Medical University, Department of Pediatric Surgery, Wroclaw (Poland); Dorobisz, Urszula [Wroclaw Medical University, Department of Radiology, Wroclaw (Poland)

    2005-05-01

    This is a review of 122 articles published until December 2003 that describe 349 children with late-presenting postero-lateral congenital diaphragmatic hernia (CDH). Data regarding pre-operative diagnostic work-up were adequately reported in 177 patients with left CDH and in 41 with a right-sided defect. Chest radiography was the only diagnostic study in 92 (51.9%) children from the former group and in 17 (43.9%) from the latter group. In other patients, diagnostic work-up encompassed various combinations of two or more imaging modalities. Apart from chest radiography, contrast study of the upper gastrointestinal tract was the most frequently performed imaging modality. In 88 (25.2%) children, initial radiographic features of CDH were misinterpreted. Pneumothorax and pleural effusion were the most common initial findings. Analysis of the hernial content in this group of patients has shown that herniation of the stomach, spleen or omentum should be regarded as risk factors for misdiagnosis of left CDH, whereas for right CDH, the risk factor is the presence of liver in the chest. Late-presenting CDH may pose a significant diagnostic problem because of the great variability of radiographic appearance. Chest radiography following passage of a nasogastric tube and contrast studies of the gastrointestinal tract seem to be the most useful investigations for the diagnosis of left CDH. For patients with right CDH, owing to the high probability of liver herniation, a chest radiograph with liver scintigraphy or CT seems to be the best diagnostic option. (orig.)

  20. Congenital diaphragmatic hernia in 22q11.2 deletion syndrome.

    Science.gov (United States)

    Unolt, Marta; DiCairano, Lauren; Schlechtweg, Kathryn; Barry, Jessica; Howell, Lori; Kasperski, Stefanie; Nance, Michael; Adzick, N Scott; Zackai, Elaine H; McDonald-McGinn, Donna M

    2017-01-01

    We report the important association of congenital diaphragmatic hernia (CDH) and 22q11.2 deletion syndrome (22q11.2DS). The prevalence of CDH in our cohort of patients with 22q11.2DS is 0.8% (10/1246), which is greater than in the general population (0.025%). This observation suggests that 22q11.2DS should be considered when a child or fetus presents with CDH, in particular when other clinical findings associated with the 22q11.2DS are present, such as congenital cardiac defects. Furthermore, this finding may lead to the identification of an additional locus for diaphragmatic hernia in the general population. © 2016 Wiley Periodicals, Inc. © 2016 Wiley Periodicals, Inc.

  1. LATE PRESENTATION OF CONGENITAL DIAPHRAGMATIC HERNIA IN ADULTS: “OUR EXPERIENCE”

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    Tejeswi S

    2015-07-01

    Full Text Available Congenital D iaphragmatic H ernia (CDH usually presents with respiratory distress in the neonatal period. Late onset CDH is less common and is associated with a wide range of clinical symptoms. The authors report two cases with late presentation of congenit al diaphragmatic hernia. Two previously healthy patients presented to the hospital with vague gastrointestinal and cardio respiratory symptoms and were investigated with chest radiographs and computed tomographic scans of thorax which suggested the diagnos is of Diaphragmatic Hernia. Contents of the hernia (viz. spleen and bowel loops in the first case and omentum in the other case were reduced and mesh repair was done. Post - operative recovery was uneventful. These cases throw light on the diagnostic challe nges of this disease due to its diverse clinical presentation, the importance of prompt diagnosis and intervention. Early correct diagnosis and treatment are associated with an excellent clinical outcome.

  2. Late versus early surgical correction for congenital diaphragmatic hernia in newborn infants.

    Science.gov (United States)

    Moyer, V; Moya, F; Tibboel, R; Losty, P; Nagaya, M; Lally, K P

    2002-01-01

    Congenital diaphragmatic hernia, although rare (1 per 2-4,000 births), is associated with high mortality and cost. Opinion regarding the timing of surgical repair has gradually shifted from emergent repair to a policy of stabilization using a variety of ventilatory strategies prior to operation. Whether delayed surgery is beneficial remains controversial. To summarize the available data regarding whether surgical repair in the first 24 hours after birth rather than later than 24 hours of age improves survival to hospital discharge in infants with congenital diaphragmatic hernia who are symptomatic at or immediately after birth. Search of MEDLINE (1966-2002), EMBASE (1978-2002) and the Cochrane databases using the terms "congenital diaphragmatic hernia" and "surg*"; citations search, and contact with experts in the field to locate other published and unpublished studies. Studies were eligible for inclusion if they were randomized or quasi-randomized trials that addressed infants with CDH who were symptomatic at or shortly after birth, comparing early (24 hours) surgical intervention, and evaluated mortality as the primary outcome. Data were collected regarding study methods and outcomes including mortality, need for ECMO and duration of ventilation, both from the study reports and from personal communication with investigators. Analysis was performed in accordance with the standards of the Cochrane Neonatal Review Group. Two trials met the pre-specified inclusion criteria for this review. Both were small trials (total n<90) and neither showed any significant difference between groups in mortality. Meta-analysis was not performed because of significant clinical heterogeneity between the trials. There is no clear evidence which favors delayed (when stabilized) as compared with immediate (within 24 hours of birth) timing of surgical repair of congenital diaphragmatic hernia, but a substantial advantage to either one cannot be ruled out. A large, multicenter randomized

  3. Prematurity and fetal lung response after tracheal occlusion in fetuses with severe congenital diaphragmatic hernia.

    Science.gov (United States)

    Sananes, Nicolas; Rodo, Carlota; Peiro, Jose Luis; Britto, Ingrid Schwach Werneck; Sangi-Haghpeykar, Haleh; Favre, Romain; Joal, Arnaud; Gaudineau, Adrien; Silva, Marcos Marques da; Tannuri, Uenis; Zugaib, Marcelo; Carreras, Elena; Ruano, Rodrigo

    2016-09-01

    To evaluate the independent association of fetal pulmonary response and prematurity to postnatal outcomes after fetal tracheal occlusion for congenital diaphragmatic hernia. Fetal pulmonary response, prematurity (prematurity (prematurity was not statistically associated with mortality after controlling for fetal pulmonary response (aOR 0.52, 95% CI 0.12-2.30, p=0.367). Fetal pulmonary response after FETO is the most important factor associated with survival, independently from the gestational age at delivery.

  4. Importance of MRI lung to liver signal ratio as a prognosticator for congenital diaphragmatic hernia

    International Nuclear Information System (INIS)

    Watanabe, Yukio; Sasakura, Chihaya; Sakaihara, Mitsuo

    2005-01-01

    Congenital diaphragmatic hernia (CDH) is a developmental defect of the diaphragm with herniation of abdominal viscera into the thorax. Factors such as ultrasound Lung to Thorax ratio (L-T ratio) have been reported as prognosticators for congenital diaphragmatic hernia. The present study investigated the usefulness of each factor as a prognosticator. Over a 7.5-year period from 1998, 13 fetuses diagnosed with congenital diaphragmatic hernia at another hospital underwent thorough testing and were delivered at our hospital; they then underwent surgery in the pediatric surgery department of our hospital. The following prognostic factors were analyzed: gestational age at detection, ultrasound L-T ratio, MRI lung to liver ratio, hepatic protrusion into the thoracic cavity and gender. Ten patients are alive, while three patients died after birth. Survival rates and p-values for each factor were as follows. Gestational age at detection: before gestational week 24, 3/3 (100%), after gestational week 25, 6/10 (60%), p=0.37. L to T ratio: 0.2≤, 5/6 (83%), <0.2, 3/6 (50%), p=0.37. MRI lung to liver ratio: 2.0≤, 8/8 (100%), <0.2, 1/5 (10%), p<0.005. Hepatic protrusion into the thoracic cavity: 4/7 (57%), no hepatic protrusion, 6/7 (85%), p=0.37. Gender: male, 3/6 (50%), and female, 6/7 (86%), p=0.16. Significant differences existed only for MRI lung to liver ratio. These results suggest that MRI lung to liver ratio represents the most useful prognosticator for congenital diaphragmatic hernia. (author)

  5. Characteristics of Infants With Congenital Diaphragmatic Hernia Who Need Follow-Up of Pulmonary Hypertension.

    Science.gov (United States)

    Kraemer, Ulrike S; Leeuwen, Lisette; Krasemann, Thomas B; Wijnen, René M H; Tibboel, Dick; IJsselstijn, Hanneke

    2018-02-06

    Pulmonary hypertension is one of the main causes of mortality and morbidity in patients with congenital diaphragmatic hernia. Currently, it is unknown whether pulmonary hypertension persists or recurs during the first year of life. Prospective longitudinal follow-up study. Tertiary university hospital. Fifty-two congenital diaphragmatic hernia patients admitted between 2010 and 2014. None. Pulmonary hypertension was measured using echocardiography and electrocardiography at 6 and 12 months old. Characteristics of patients with persistent pulmonary hypertension were compared with those of patients without persistent pulmonary hypertension. At follow-up, pulmonary hypertension persisted in four patients: at 6 months old, in three patients (patients A-C), and at 12 months old, in two patients (patients C and D). Patients with persistent pulmonary hypertension had a longer duration of mechanical ventilation (median 77 d [interquartile range, 49-181 d] vs median 8 d [interquartile range, 5-15 d]; p = 0.002) and hospital stay (median 331 d [interquartile range, 198-407 d) vs median 33 d (interquartile range, 16-59 d]; p = 0.003) than patients without persistent pulmonary hypertension. The proportion of patients with persistent pulmonary hypertension (n = 4) treated with inhaled nitric oxide (100% vs 31%; p = 0.01), sildenafil (100% vs 15%; p = 0.001), and bosentan (100% vs 6%; p pulmonary hypertension (n = 48). At 6 months, all patients with persistent pulmonary hypertension were tube-fed and treated with supplemental oxygen and sildenafil. Less than 10% of congenital diaphragmatic hernia patients had persistent pulmonary hypertension at ages 6 and/or 12 months. Follow-up for pulmonary hypertension should be reserved for congenital diaphragmatic hernia patients with echocardiographic signs of persistent pulmonary hypertension at hospital discharge and/or those treated with medication for pulmonary hypertension at hospital discharge.

  6. Total Intravenous Anesthesia for Repair of Congenital Diaphragmatic Hernia: A Case Report

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    Hung-Te Hsu

    2004-09-01

    Full Text Available Congenital diaphragmatic hernia is a cardiopulmonary anomaly that causes severe respiratory disorder. Traditionally, inhalational anesthetics with mechanical hyperventilation, opioids, and muscle relaxants are used in anesthesia for repair surgery. In this case, we used total intravenous anesthesia combined with high-frequency oscillatory ventilation and inhaled nitric oxide for surgical repair of the diaphragm. After surgery, the patient recovered well and was discharged from hospital 1 month later.

  7. Acute gastric volvulus and congenital diaphragmatic hernia, case report and review

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    Laura Pérez-Egido

    2015-01-01

    Full Text Available Congenital diaphragmatic hernia (CDH is the result of the incomplete fusion and closure of the pleuroperitoneal canal during the fetal development. CDH is usually diagnosed prenatally but, if undiagnosed, the clinical presentation ranges from asymptomatic children to serious respiratory or gastrointestinal symptoms. Acute gastric volvulus associated with CDH is a rare surgical emergency in children. We report two cases of acute gastric volvulus associated with CDH and review the literature.

  8. Surgical repair of a congenital pericardial diaphragmatic hernia

    International Nuclear Information System (INIS)

    Wright, R.P.; Wright, R.; Scott, R.

    1987-01-01

    Objective: To describe the surgical repair and pre- and postoperative management of a peritoneopericardial diaphragmatic hernia (PPDH) in a pregnant dog. Case summary: A pregnant dog was presented for vomiting, lethargy, and pale mucous membranes. Pulsus paradoxus was noted on physical examination. The dog was diagnosed with a PPDH via thoracic radiographs, abdominal ultrasound, and a n echocardiogram. The hernia was surgically repaired and the dog received supportive medical care until the puppies were old enough to be delivered via cesarean section. The mother and all puppies survived. New or unique information provided: This is the first report that describes the surgical repair and postoperative management of a PPDH in a pregnant dog

  9. Congenital diaphragmatic hernia: focus on abnormal muscle formation.

    Science.gov (United States)

    Alaggio, R; Midrio, P; Sgrò, A; Piovan, G; Guzzardo, V; Donato, R; Sorci, G; Lago, P; Gamba, P G

    2015-03-01

    CDH is a major birth defect, characterized by high mortality. How the initial defective mesenchymal substructures affects muscle malformation is unclear. Defects of genes involved in diaphragmatic development, such as friend-of-GATA2 (Fog2), may play an important role in its pathogenesis. We investigated the expression of Fog2 and proteins of myogenesis in a series of CDH and in diaphragms at different fetal ages, in order to clarify the role of muscular components during diaphragmatic development in cases with CDH. Specimen were obtained from seven diaphragms of CDH cases undergoing surgery, 3 entire diaphragms from non repaired CDH, 5 control diaphragms at different gestational ages (16, 17, 22, 32, and 40g.w.), and 3 biopsy samples of normal voluntary muscle. The thickness of diaphragms at the edge of the defect in CDH and in developing diaphragms was measured. All samples were processed for HE staining and immunohistochemistry. Immunohistochemical expression of MyoD, Myf4, Pax7, Mib1 and Fog2 was evaluated. Mean thickness at the edge of the defect was 4.14mm. Contralateral hemi-diaphragm in 3 autopsies and in controls at 32 and 40weeks measured 2.25mm; histology showed a higher density of desmin-positive muscular cells at the edge of defect. CDH displayed scattered Myf4-positive cells (range 0%-10%, mean 2.4%), numerous Pax7-positive cells (range 0%-24%, mean 12.1%) and less than 1% Mib1-positive cells. Controls showed a reduction of positive cell with the progression of gestational age for Myf4 (30% at 16 weeks, 20% at 17 weeks, 5% at 22 weeks, 1% at 32 and 40 weeks), Pax7 (85% at 16 weeks and 17 weeks, 35% at 22 weeks, 11% at 32 weeks) and Mib1 (20% at 16 weeks, 8% at 17 weeks, 7% at 22weeks, 2% at 32 weeks). Fog-2 was diffusely positive in mesenchymal, mesothelial and muscular cells, in diaphragms from 16 to 22 weeks, decreasing to 20% of positive muscular cells in 32-week diaphragm. In CDH only mesothelial and mesenchymal cells were positive. Stem cell

  10. Challenges in the management of early versus late presenting congenital diaphragmatic hernia in a poor resource setting

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    Abubakar Auwal

    2011-01-01

    Full Text Available Background: Despite the advances in management, congenital diaphragmatic hernia (CDH has continued to pose a significant challenge to paediatric surgeons. This is amplified in a setting like ours where there is a dearth of facilities to cope with the problem of CDH. This study was undertaken to highlight the peculiarities of the management of CDH in a poor resource setting. Methods: All confirmed cases of CDH were prospectively documented from 2003 till date. Results: Seven children were treated from 2003 till date. The diaphragmatic defect was on the left side in six (83.8% and on the right side in one (17.7%. All the patients had primary closure of the defect without patch via an abdominal approach. The three patients presenting at birth died while the remaining four patients survived. Conclusion: With inadequate neonatal intensive care facilities, the severe early presenting CDH has a dismal prognosis. In contrast, the late presenting CDH poses more diagnostic challenges; but once identified and appropriate treatment instituted, it has an excellent prognosis. We recommend that physicians should include CDH in the differential diagnosis of patients with birth asphyxia and in patients with chronic respiratory symptoms with failure to thrive.

  11. BMP4 and LGL1 are Down Regulated in an Ovine Model of Congenital Diaphragmatic Hernia

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    Heather eEmmerton-Coughlin

    2014-11-01

    Full Text Available Background/Purpose: The molecular pathophysiology of lung hypoplasia in congenital diaphragmatic hernia (CDH remains poorly understood. The Wnt signaling pathway and downstream targets, such as bone morphogenetic proteins (BMP 4 and other factors such as late gestation lung protein 1 (LGL1, are essential to normal lung development. Nitrofen-induced hypoplastic CDH rodent lungs demonstrate down regulation of the Wnt pathway including BMP4 and reduced LGL1 expression. The aim of the current study was to examine the molecular pathophysiology associated with a surgically induced CDH in an ovine model. Methods: Left thoracotomy was performed at 80 days in 14 fetal sheep; CDH was created in 7 experimental animals. Lungs were harvested at 136 days (term=145d. Lung weight and mean terminal bronchiole density (MTBD were measured to determine the degree of pulmonary hypoplasia. Quantitative real time PCR was undertaken to analyze Wnt2, Wnt7b, BMP4 and LGL1 mRNA expression. Results: Total lung weight was decreased while MTBD was increased in the CDH group (p<0.05, confirming pulmonary hypoplasia. BMP4 and LGL1 mRNA was significantly reduced in CDH lungs (p<0.05. Wnt2 mRNA was decreased, although not significantly (p<0.06. Conclusions: For the first time, down regulation of BMP4 and Lgl1 are reported in an ovine CDH model. In contrast to other animal models, these changes are persistent to near term. These findings suggest that mechanical compression from herniated viscera may play a more important role in causing pulmonary hypoplasia in CDH, rather than a primary defect in lung organogenesis.

  12. Distal 4p microdeletion in a case of Wolf-Hirschhorn syndrome with congenital diaphragmatic hernia.

    Science.gov (United States)

    Casaccia, Germana; Mobili, Luisa; Braguglia, Annabella; Santoro, Francesco; Bagolan, Pietro

    2006-03-01

    Wolf-Hirschhorn syndrome (WHS) is a well-known genetic condition characterized by typical facial anomalies, midline defects, skeletal anomalies, prenatal and postnatal growth retardation, hypotonia, mental retardation, and seizures. Affected patients with a microdeletion on distal 4p present a milder phenotype that lacks congenital malformations. WHS is rarely associated with congenital diaphragmatic hernia (CDH), and only 8 cases are reported in the literature. In almost all cases of CDH and WHS a large deletion of the short arm of chromosome 4 is present. A microdeletion of 2.6 Mb on distal 4p associated with CDH and multiple congenital malformations (i.e., cleft palate) is reported for the first time. Such a microdeletion should prompt a molecular study for WHS when in a fetus/newborn with CDH the association with cleft lip/palate and typical facial appearance (flat facial profile, hypertelorism) is found. Copyright 2006 Wiley-Liss, Inc.

  13. New Insights into Congenital Diaphragmatic Hernia – A Surgeon’s Introduction to CDH Animal Models

    Science.gov (United States)

    Chiu, Priscilla Pui Lam

    2014-01-01

    In recent decades, new research into the developmental defects and pathophysiological basis of congenital diaphragmatic hernia (CDH) has revealed opportunities for the development of innovative therapies. Importantly, the use of animal models to represent this anomaly in the laboratory has resulted in the discovery of many important genetic, epigenetic, and other molecular contributors to this condition. In this review, the most commonly used and newly devised animal models of CDH are presented to familiarize the reader with the latest innovations in the basic sciences. PMID:24809040

  14. Congenital diaphragmatic hernia, Meckel′s diverticulum and malrotation in a 3-month-old infant

    Directory of Open Access Journals (Sweden)

    Laxman Basani

    2016-01-01

    Full Text Available Congenital diaphragmatic hernia (CDH is a common developmental anomaly that usually presents in the neonatal period. It is known to be associated with cardiac, renal, genital and chromosomal anomalies. Late presentation of CDH (beyond 1-month of age is seen in 13% of the cases. Malrotation is reported in 42% of CDH cases. We report a case of a 3-month-old infant with concurrent CDH, Meckel′s diverticulum and malrotation. This is the first case report of such an association in an infant.

  15. New insights into congenital diaphragmatic hernia (CDH- a surgeon’s introduction to CDH animal models.

    Directory of Open Access Journals (Sweden)

    Priscilla Pui Lam Chiu

    2014-04-01

    Full Text Available In recent decades, new research into the developmental defects and pathophysiological basis of congenital diaphragmatic hernia has revealed opportunities for the development of innovative therapies. Importantly, the use of animal models to represent this anomaly in the laboratory has resulted in the discovery of many important genetic, epigenetic and other molecular contributors to this condition. In this review, the most commonly used and newly devised animal models of CDH are presented to familiarize the reader with the latest innovations in the basic sciences.

  16. New Insights into Congenital Diaphragmatic Hernia - A Surgeon's Introduction to CDH Animal Models.

    Science.gov (United States)

    Chiu, Priscilla Pui Lam

    2014-01-01

    In recent decades, new research into the developmental defects and pathophysiological basis of congenital diaphragmatic hernia (CDH) has revealed opportunities for the development of innovative therapies. Importantly, the use of animal models to represent this anomaly in the laboratory has resulted in the discovery of many important genetic, epigenetic, and other molecular contributors to this condition. In this review, the most commonly used and newly devised animal models of CDH are presented to familiarize the reader with the latest innovations in the basic sciences.

  17. Inhalation of nitric oxide as a treatment of pulmonary hypertension in congenital diaphragmatic hernia

    DEFF Research Database (Denmark)

    Henneberg, S W; Jepsen, S; Andersen, P K

    1995-01-01

    Congenital diaphragmatic hernia (CDH) still has a mortality risk of around 40%. The concomitant pulmonary hypoplasia and the persistent pulmonary hypertension are of major prognostic importance. The use of a selective pulmonary vasodilator may revert this vicious circle that is fatal to many...... children. Inhalation of nitric oxide (NO) has been suggested as a rational treatment of this condition. The authors report three cases of high-risk infants with CDH where NO was used successfully. It is concluded that hypoxemia in CDH can be treated successfully with NO inhalation when conventional...

  18. Neonatal diabetes mellitus and congenital diaphragmatic hernia: coincidence or concurrent etiology?

    Directory of Open Access Journals (Sweden)

    Topiol Emmanuelle S

    2012-07-01

    Full Text Available Abstract Neonatal diabetes mellitus (NDM is a rare metabolic disorder, affecting approximately 1 in 500,000 live births. The management of NDM is challenging, as the benefits of controlling hyperglycemia must be balanced with the risks of iatrogenic hypoglycemia. NDM occurs in both permanent and transient forms, which have been genetically and phenotypically well characterized. Herein, we present the previously unreported combination of transient NDM (TNDM and congenital diaphragmatic hernia (CDH. In addition to reviewing the management and genetics of NDM we discuss the potential for overlapping genetic or embryologic abnormalities to explain the concurrence of CDH and NDM.

  19. Thoracoscopic repair of renal ectopia associated with congenital diaphragmatic hernia: Report of two cases

    Directory of Open Access Journals (Sweden)

    R.S. Kamble

    2015-12-01

    Full Text Available Renal ectopia is a rare anomaly which may occur due to an abnormal ascent of the kidney. It is usually asymptomatic and does not require treatment. Intrathoracic renal ectopia with concomitant congenital diaphragmatic hernia (CDH is extremely rare. All symptomatic CDH cases must be treated with open or thoracoscopic repair. During plication of the diaphragm, care must be taken to avoid renal injury. Following, we present two rare variants of CDH with concomitant renal ectopia managed thoracoscopically. Post-operative recovery was uneventful. Doppler ultrasound study performed one month after surgery confirmed normal vascularity of the kidneys and the absence of urinary outflow obstruction.

  20. Ultrasound and MR images of prenatally diagnosed bilateral congenital diaphragmatic hernia, a rare variation of CDH.

    Science.gov (United States)

    Hiasa, Kana Ishibashi; Fujita, Yasuyuki; Fukushima, Kotaro; Nagata, Kouji; Taguchi, Tomoaki; Wake, Norio

    2012-01-01

    The patient referred to our hospital at 29 weeks. The detailed ultrasound study demonstrated the stomach behind the heart, the slight deviation of the heart, and the vascular connection between the right chest organ and inferior vena cava. Bilateral congenital diaphragmatic hernia was suggested and confirmed by magnetic resonance imaging. A baby was delivered at 37 weeks and immediately placed on high-frequency oscillation ventilation. Although a surgical correction of the bilateral hernia under extracorporeal membrane oxygenation was completed, he expired at 14 h of age. Copyright © 2012 Elsevier Inc. All rights reserved.

  1. Long-term maturation of congenital diaphragmatic hernia treatment results: toward development of a severity-specific treatment algorithm.

    Science.gov (United States)

    Kays, David W; Islam, Saleem; Larson, Shawn D; Perkins, Joy; Talbert, James L

    2013-10-01

    To assess the impact of varying approaches to congenital diaphragmatic hernia (CDH) repair timing on survival and need for ECMO when controlled for anatomic and physiologic disease severity in a large consecutive series of patients with CDH. Our publication of 60 consecutive patients with CDH in 1999 showed that survival was significantly improved by limiting lung inflation pressures and eliminating hyperventilation. We retrospectively reviewed 268 consecutive patients with CDH, combining 208 new patients with the 60 previously reported. Management and ventilator strategy were highly consistent throughout. Varying approaches to surgical timing were applied as the series matured. Patients with anatomically less severe left liver-down CDH had significantly increased need for ECMO if repaired in the first 48 hours, whereas patients with more severe left liver-up CDH survived at a higher rate when repair was performed before ECMO. Overall survival of 268 patients was 78%. Survival was 88% for those without lethal associated anomalies. Of these, 99% of left liver-down CDH survived, 91% of right CDH survived, and 76% of left liver-up CDH survived. This study shows that patients with anatomically less severe CDH benefit from delayed surgery whereas patients with anatomically more severe CDH may benefit from a more aggressive surgical approach. These findings show that patients respond differently across the CDH anatomic severity spectrum and lay the foundation for the development of risk-specific treatment protocols for patients with CDH.

  2. [Rupture of the left diaphragmatic cupola with pericardiac rupture complicated by heart luxation. Apropos of 2 new cases].

    Science.gov (United States)

    Giraud, C; Hoff, J; Bruel, A; Peltier, J P

    1983-10-01

    Pericardiac rupture associated with a rupture of the left diaphragmatic cupola is a seldom possibility. This possibility is principally observed during important thoracic and abdominal traumatism. Heart luxation through the pericardiac break is a complication which can involve brutal death, stay unknown or be an operative discovery. Two new cases of left diaphragmatic cupola rupture are related. The authors analyse ways of this pericardiac luxation, definite diagnostic components and the therapeutic methods. Prognosis stays serious because of the importance of the associated lesions.

  3. Down-regulation of N-deacetylase-N-sulfotransferase-1 signaling in the developing diaphragmatic vasculature of nitrofen-induced congenital diaphragmatic hernia.

    Science.gov (United States)

    Takahashi, Toshiaki; Friedmacher, Florian; Zimmer, Julia; Puri, Prem

    2017-06-01

    Congenital diaphragmatic hernia (CDH) has been attributed to various developmental abnormalities of the underlying tissue components. N-deacetylase-N-sulfotransferase-1 (Ndst1) is a strongly expressed biosynthetic enzyme in endothelial cells, which has recently been identified as an important factor during diaphragmatic vascularization. Loss of endothelial Ndst1 has been demonstrated to cause angiogenic defects in the developing diaphragm and disrupt normal diaphragmatic development. Furthermore, deficiency of Ndst1 diminishes the expression of slit homolog 3 (Slit3), a known CDH-related gene that has been associated with reduced vascular density and muscle defects in the diaphragm of Slit3 -/- mice. We hypothesized that expression of Ndst1 and Slit3 is decreased in the diaphragmatic vasculature of fetal rats with nitrofen-induced CDH. Time-mated rats received either nitrofen or vehicle on gestational day 9 (D9). Fetal diaphragms were microdissected on D13, D15 and D18, and divided into control and nitrofen-exposed specimens. Gene expression levels of Ndst1 and Slit3 were assessed using qRT-PCR. Immunofluorescence-double-staining for Ndst1 and Slit3 was performed to evaluate protein expression and localization. Relative mRNA expression of Ndst1 and Slit3 was significantly decreased in pleuroperitoneal folds (D13), developing diaphragms (D15) and fully muscularized diaphragms (D18) of nitrofen-exposed fetuses compared to controls. Confocal-laser-scanning-microscopy revealed markedly diminished Ndst1 and Slit3 expression in endothelial cells within the diaphragmatic vasculature on D13, D15 and D18 compared to controls. Down-regulation of Ndst1 signaling in the developing diaphragm may impair endothelial cell migration and angiogenesis, thus leading to defective diaphragmatic vascular development and CDH. Ib. Copyright © 2017 Elsevier Inc. All rights reserved.

  4. Congenital diaphragmatic hernia: neonatal outcomes following referral to a paediatric surgical centre.

    LENUS (Irish Health Repository)

    Chukwu, J

    2012-02-01

    Congenital diaphragmatic hernia (CDH) is a rare malformation observed in approximately 1 in 3000 live births. Estimates of postnatal survival range from 50 to 70% despite advances in neonatal care. Antenatal diagnosis is associated with termination of pregnancy in 25-50% pregnancy internationally which may not be reflective of the Irish population. We aimed to evaluate the mortality of infants with CDH who survived to admission in a tertiary referral paediatric hospital between 1996 and 2007. The Hospital In-Patient Enquiry system was used to determine the number of neonatal referrals for CDH to OLHSC between 1996 and 2007. Mortality, sex distribution, length of patient stay and the number of cases per year were examined. 141 neonates with CDH were over 12 years with approximately 12 referrals per annum of which 82 (58%) were male and 59 (42%) female. The average length of stay in the hospital was 33 (range 0-364) days. Overall 71% of the patients survived to discharge. In the first epoch (1996-2001) survival was 63% compared with 78% in the later epoch (2002-7). The overall survival for neonates with CDH presenting to OLCHC during the 12 year-period was 71% although this improved to 78% in recent epoch. Further study of associated congenital anomalies, number of terminations of pregnancy, complexity of the diaphragmatic defect and degree of pulmonary hypertension are required to compare this population with other international centres.

  5. Evaluation of lung function changes before and after surfactant application during artificial ventilation in newborn rats with congenital diaphragmatic hernia

    NARCIS (Netherlands)

    E.C. Scheffers; H. IJsselstijn (Hanneke); R. Tenbrinck (Robert); B.F. Lachmann (Burkhard); J.C. de Jongste (Johan); J.C. Molenaar; D. Tibboel (Dick)

    1994-01-01

    textabstractPatients with congenital diaphragmatic hernia (CDH) have unilateral or bilateral hypoplasia of the lungs including delayed maturation of the terminal air sacs. Because these lungs are highly susceptible to barotrauma and oxygen toxicity, even in full-term newborns, continued research

  6. The long-term follow-up of patients with a congenital diaphragmatic hernia: a broad spectrum of morbidity

    NARCIS (Netherlands)

    Peetsold, M.G.; Heij, H.A.; Kneepkens, C.M.F.; Nagelkerke, A.F.; Huisman, J.; Gemke, R.J.B.J.

    2009-01-01

    Congenital diaphragmatic hernia (CDH) is a life-threatening anomaly with a mortality rate of approximately 40-50%, depending on case selection. It has been suggested that new therapeutic modalities such as nitric oxide (NO), high frequency oxygenation (HFO) and extracorporal membrane oxygenation

  7. Genome-wide oligonucleotide-based array comparative genome hybridization analysis of non-isolated congenital diaphragmatic hernia

    NARCIS (Netherlands)

    D.A. Scott; M. Klaassens; A.M. Holder (Ashley); K.P. Lally (Kevin); C.J. Fernandes (Caraciolo); R-J.H. Galjaard (Robert-Jan); D. Tibboel (Dick); J.E.M.M. de Klein (Annelies); B. Lee (Brendan)

    2007-01-01

    textabstractNon-isolated congenital diaphragmatic hernia (CDH+) is a severe birth defect that is often caused by de novo chromosomal anomalies. In this report, we use genome-wide oligonucleotide-based array comparative genome hybridization (aCGH) followed by rapid real-time quantitative PCR analysis

  8. Standardized Postnatal Management of Infants with Congenital Diaphragmatic Hernia in Europe: The CDH EURO Consortium Consensus - 2015 Update

    NARCIS (Netherlands)

    Snoek, K.G.; Reiss, I.K.; Greenough, A.; Capolupo, I.; Urlesberger, B.; Wessel, L.; Storme, L.; Deprest, J.; Schaible, T.; Heijst, A. van; Tibboel, D.; Scharbatke, H.E.; et al.,

    2016-01-01

    In 2010, the congenital diaphragmatic hernia (CDH) EURO Consortium published a standardized neonatal treatment protocol. Five years later, the number of participating centers has been raised from 13 to 22. In this article the relevant literature is updated, and consensus has been reached between the

  9. Spontaneous prematurity in fetuses with congenital diaphragmatic hernia: a retrospective cohort study about prenatal predictive factors.

    Science.gov (United States)

    Barbosa, Bruna Maria Lopes; Rodrigues, Agatha S; Carvalho, Mario Henrique Burlacchini; Bittar, Roberto Eduardo; Francisco, Rossana Pulcineli Vieira; Bernardes, Lisandra Stein

    2018-01-12

    To evaluate possible predictive factors of spontaneous prematurity in fetuses with congenital diaphragmatic hernia (CDH). A retrospective cohort study was performed. Inclusion criteria were presence of CDH; absence of fetoscopy; absence of karyotype abnormality; maximum of one major malformation associated with diaphragmatic hernia; ultrasound monitoring at the Obstetrics Clinic of Clinicas Hospital at the University of São Paulo School of Medicine, from January 2001 to October 2014. The data were obtained through the electronic records and ultrasound system of our fetal medicine service. The following variables were analyzed: maternal age, primiparity, associated maternal diseases, smoking, previous spontaneous preterm birth, fetal malformation associated with hernia, polyhydramnios, fetal growth restriction, presence of intrathoracic liver, invasive procedures performed, side of hernia and observed-to- expected lung to head ratio (o/e LHR). On individual analysis, variables were assessed using the Chi-square test and the Mann-Whitney test. A multiple logistic regression model was applied to select variables independently influencing the prediction of preterm delivery. A ROC curve was constructed with the significant variable, identifying the values with best sensitivity and specificity to be suggested for use in clinical practice. Eighty fetuses were evaluated, of which, 21 (26.25%) were premature. O/e LHR was the only factor associated with prematurity (p = 0.020). The ROC curve showed 93% sensitivity with 48.4% specificity for the cutoff of 40%. O/e LHR was the only predictor of prematurity in this sample.

  10. Calcitonin gene-related peptide expression is altered in pulmonary neuroendocrine cells in developing lungs of rats with congenital diaphragmatic hernia

    NARCIS (Netherlands)

    H. IJsselstijn (Hanneke); N. Hung; J.C. de Jongste (Johan); D. Tibboel (Dick); E. Cutz

    1998-01-01

    textabstractCongenital diaphragmatic hernia (CDH) is associated with high neonatal mortality from lung hypoplasia and persistent pulmonary hypertension. Pulmonary neuroendocrine cells (PNEC) produce calcitonin gene-related peptide (CGRP), a potent vasodilator. We

  11. Antenatal predictors of outcome in prenatally diagnosed congenital diaphragmatic hernia (CDH).

    Science.gov (United States)

    Oluyomi-Obi, Titilayo; Kuret, Verena; Puligandla, Pramod; Lodha, Abhay; Lee-Robertson, Helen; Lee, Kovid; Somerset, David; Johnson, Joann; Ryan, Greg

    2017-05-01

    Pulmonary hypoplasia is the main cause of mortality in isolated congenital diaphragmatic hernia (CDH) and its prediction is paramount when counseling parents. We sought to identify antenatal parameters that predicted neonatal mortality in CDH. Search was conducted in MEDLINE, EMBASE, Cochrane Database of Systematic reviews, PubMed, Scopus, and Web of Science on the ability of lung-to-head ratio (LHR), observed-to-expected LHR (o/e LHR), total fetal lung volume (TFLV), o/e TFLV, percentage predicted lung volume (PPLV) and degree of liver herniation to predict neonatal morbidity and mortality in fetuses with CDH. Primary outcome was perinatal survival and secondary was the use of extracorporeal membrane oxygenation (ECMO). Until April 2016, 1067 articles were found, of which 22 were included in our meta-analysis. This showed that the odds of survival with LHR CDH. Level II Type of study: Systematic review and meta-analysis. Copyright © 2016 Elsevier Inc. All rights reserved.

  12. Congenital diaphragmatic hernia: A 4-year experience in a single centre

    Directory of Open Access Journals (Sweden)

    Ozdogan Tutku

    2010-01-01

    Full Text Available Background: This study aimed to evaluate congenital diaphragmatic hernia (CDH patients in our department during a 4-year period. Patients and Methods: A retrospective study of 10 cases of CDH patients managed in the Neonatology and Pediatric Surgery Units of Goztepe Teaching Hospital from 2000 to 2004. Results: The mean birth weight of the patients was 2,600 g and the mean gestational age was 37.6 weeks. The mean admission time for the patients was 10.4 h. The mortality rate was 50%, comprising two deaths before operation and one during operation. The surviving infants followed for 1 year are free of any symptoms and complications. Conclusion: Conventional ventilation is an other treatment modality, especially in order to gain time before surgical operation for newborns with CDH.

  13. Conversion to central cannulation following azygous vein cannulation in right congenital diaphragmatic hernia

    Directory of Open Access Journals (Sweden)

    Nina Nosavan

    2018-02-01

    Full Text Available Right-sided congenital diaphragmatic hernia (R-CDH can be associated with variations in anatomy that make extracorporeal membrane oxygenation (ECMO cannulation challenging. We report a case of azygous vein cannulation in a R-CDH patient requiring ECMO. The venous cannula passed directly from the right internal jugular vein into the azygous vein and failed to provide adequate venous return. Cannula repositioning was unsuccessful which led to an urgent planned conversion to central cannulation with a successful outcome. The risk of azygous vein cannulation is increased in patients with R-CDH due to the anatomic distortions that are unique to this subset. Azygous vein cannulation should be considered when inadequate venous return on the ECMO circuit occurs, especially in a R-CDH patient. Central cannulation should be available if the venous cannula cannot be repositioned into the superior vena cava (SVC.

  14. Fetal magnetic resonance imaging. Diagnostics in congenital diaphragmatic hernia; Fetale Magnetresonanztomographie. Diagnostik bei kongenitaler Zwerchfellhernie

    Energy Technology Data Exchange (ETDEWEB)

    Kilian, A.K.; Buesing, K.A.; Neff, K.W. [Fakultaet fuer Klinische Medizin der Universitaet Heidelberg, Institut fuer Klinische Radiologie, Universitaetsklinikum Mannheim (Germany); Schaible, T. [Fakultaet fuer Klinische Medizin der Universitaet Heidelberg, Kinderklinik, Universitaetsklinikum Mannheim (Germany)

    2006-02-15

    Ultrasonography is the primary imaging modality for the evaluation of fetal or maternal anomalies. This method is safe, relatively inexpensive, easily accessible, and allows real-time imaging. Continuous technical improvements in ultrasonography in the last 10-15 years have led to improved diagnostic accuracy for fetal malformations. In cases of complex anomalies magnetic resonance imaging (MRI) can provide additional information. MRI has evolved as a valuable diagnostic method for evaluating fetal pathology. Particularly with regard to similarity of liver and lung parenchyma in ultrasonography, diagnosis of congenital diaphragmatic hernia (CDH) can be difficult. Beside morphological aspects, e.g., herniation of abdominal contents into the chest, small amounts of compressed lung can be visualized on MRI. The feasibility of using volumetric measurement on MRI may be helpful to predict high-risk fetuses and facilitate decisions to assure adequate prenatal and postnatal management to improve postnatal outcome. (orig.) [German] Der Ultraschall dient in der Schwangerschaft routinemaessig als Screeningmethode fuer fetale und maternale Anomalien, da dieser als sicher fuer Kind und Mutter, guenstig, allseits verfuegbar gilt und die Moeglichkeit einer Real-time-Darstellung bietet. Insbesondere aufgrund der Weiterentwicklung in den letzten 10-15 Jahren verfuegt der Ultraschall ueber eine hohe Aussagekraft bzgl. fetaler Fehlbildungen. In einzelnen Faellen, z. B. bei komplexen Fehlbildungen, kann die Magnetresonanztomographie (MRT) suffiziente Zusatzinformationen liefern. Aus diesem Grund hat sich die fetale MRT zur Diagnostik fetaler Fehlbildungen bewaehrt. Die Diagnose einer kongenitalen Zwerchfellhernie (congenital diaphragmatic hernia, CDH) kann im Ultraschall gerade durch sonographische Aehnlichkeit von Leber und Lunge erschwert sein. Im Falle einer CDH bietet die MRT neben der reinen Morphologie, u. a. der Ausdehnung der nach intrathorakal hernierten Abdominalorgane, die

  15. Nihilism in the 1990s: the true mortality of congenital diaphragmatic hernia.

    Science.gov (United States)

    Stege, Gerben; Fenton, Alan; Jaffray, Bruce

    2003-09-01

    Reported survival in congenital diaphragmatic hernia (CDH) fails to allow for case selection bias. This study reports the incidence of CDH in a geographically defined population over 11 years and assesses the effect of new therapies (high-frequency oscillatory ventilation, extracorporeal membrane oxygenation, inhaled nitric oxide, and delayed surgery) on survival when case selection is avoided. A retrospective review of cases from a regional case registry, the Northern Region Congenital Anomaly Survey, was conducted. A total of 185 cases were identified. Mortality was 62% and did not vary significantly during the study period. Mortality was unaffected by the introduction of new therapies. There was a significant inverse correlation between the rate of elective termination and survival of live borns. The presence of an additional anomaly increased mortality to 79%. The mortality of CDH when complete case ascertainment is achieved is unaffected by new therapies. The survival rate is principally determined by the rate of antenatal termination and the incidence of associated anomalies. Reports of improved survival of CDH should be interpreted with caution, as variations in outcome are more likely to be explained by case selection artifact.

  16. Vitamin A deficiency (VAD), teratogenic, and surgical models of congenital diaphragmatic hernia (CDH).

    Science.gov (United States)

    Kling, David E; Schnitzer, Jay J

    2007-05-15

    Congenital diaphragmatic hernia (CDH) is a congenital malformation that occurs with a frequency of 0.08 to 0.45 per 1,000 births. Children with CDH are born with the abdominal contents herniated through the diaphragm and exhibit an associated pulmonary hypoplasia which is frequently accompanied by severe morbidity and mortality. Although the etiology of CDH is largely unknown, considerable progress has been made in understanding its molecular mechanisms through the usage of genetic, teratogenic, and surgical models. The following review focuses on the teratogenic and surgical models of CDH and the possible molecular mechanisms of nitrofen (a diphenyl ether, formerly used as an herbicide) in both induction of CDH and pulmonary hypoplasia. In addition, the mechanisms of other compounds including several anti-inflammatory agents that have been linked to CDH will be discussed. Furthermore, this review will also explore the importance of vitamin A in lung and diaphragm development and the possible mechanisms of teratogen interference in vitamin A homeostasis. Continued exploration of these models will bring forth a clearer understanding of CDH and its molecular underpinnings, which will ultimately facilitate development of therapeutic strategies. (c) 2007 Wiley-Liss, Inc.

  17. Expression of hepatic lipid droplets is decreased in the nitrofen model of congenital diaphragmatic hernia.

    Science.gov (United States)

    Takahashi, Hiromizu; Kutasy, Balazs; Friedmacher, Florian; Takahashi, Toshiaki; Puri, Prem

    2016-02-01

    Prenatal mortality in newborn infants with congenital diaphragmatic hernia (CDH) has been attributed to increased amounts of liver hernia ion through the diaphragmatic defect. Antenatal studies in human and rodent fetus with CDH further demonstrated a contribution of the developing liver in the pathogenesis of CDH. The abnormal hepatic growth in experimental animal models, therefore, indicates a disruption of normal liver development in CDH. However, the underlying structural, histological and functional changes in the liver of animals with CDH remain unclear. We design this study to test the hypothesis that the morphological and cellular liver development is altered in the nitrogen-induced CDH model. Pregnant rats were exposed to either olive oil or nitrofen on day 9 of gestation (D9). Livers and chest were harvested on D21 and divided into two groups: control (n = 8), nitrofen with CDH (CDH, n = 8). Haematoxylin-eosin (Straub et al. Histopathology 68:617-631, 2013) staining was performed to evaluate underlying morphological changes. Apoptosis was checked by using TUNEL staining and apoptotic cell number was counted on 16-16 slides in 25 fields by two independent viewers. Hepatic lipid droplet expressions were evaluated by hepatic adipose differentiation-related protein (ARDP) expression. Compared to controls markedly increased hypertrophy was seen in CDH group. Significantly increased apoptotic cell numbers were detected in CDH group compared to controls (5.1 ± 1.5 vs 2.1 ± 0.6) (p CDH group compared to controls. Immunohistochemistry showed markedly decreased hepatic ADRP immunoreactivity in CDH fetuses compared to controls. Our findings provide strong evidence of hepatic hypertrophy and increased cell apoptosis in the liver of nitrofen-induced CDH. These morphological changes may affect liver lipid droplet expression function.

  18. Polyhydramnios with bidirectional fetal ductus arteriosus flow in a fetus with congenital diaphragmatic hernia: case report.

    Science.gov (United States)

    Aguilera, Marijo; Ramin, Kirk; Nyholm, Jessica; Gidvani, Monisha; Jacobs, Katherine; Sivanandam, Shanthi

    2011-06-01

    The etiology of polyhydramnios may be attributed to either increased production of amniotic fluid (fetal polyuria or high-output cardiac failure) or decreased fetal swallowing (obstruction or neurological impairment). Although idiopathic polyhydramnios occurs in nearly half of all cases, it is often associated with fetal abnormalities. Fetal ductus arteriosus flow is normally from right to left. We report a case of antenatally detected bidirectional fetal ductus arteriosus flow diagnosed concomitantly with polyhydramnios. Amnioreduction was performed due to severe maternal symptoms, which resulted in correction of the fetal ductus arteriosus flow. Postnatal diagnosis of a Morgagni diaphragmatic hernia indicates that our sonographic findings collectively may have been a diagnostic clue. © Thieme Medical Publishers.

  19. Prosthetic patches for congenital diaphragmatic hernia repair: Surgisis vs Gore-Tex.

    Science.gov (United States)

    Grethel, Erich J; Cortes, Raul A; Wagner, Amy J; Clifton, Matthew S; Lee, Hanmin; Farmer, Diana L; Harrison, Michael R; Keller, Roberta L; Nobuhara, Kerilyn K

    2006-01-01

    The sequelae of congenital diaphragmatic hernia (CDH) continue well beyond the perinatal period. Up to 50% of these patients have subsequent recurrent herniation or small bowel obstruction (SBO). A recent trend has been toward the use of bioactive prosthetic materials. We reviewed different patch closure techniques used for CDH repair at our institution and their association with these sequelae. A retrospective review was performed of 152 records for patients with CDH. Newborns that underwent patch repair for CDH and survived for at least 30 days were included in the analysis. Primary outcomes evaluated were recurrent herniation and SBO. Two types of prostheses were examined, Gore-Tex, an artificial material, and Surgisis, a bioactive material. Twelve (44%) of 27 patients who had Surgisis repair had recurrent herniation. Seventeen (38%) of 45 patients who had a Gore-Tex repair had recurrent herniation. Two additional patients in each group presented with SBO. No significant difference in recurrent herniation rates was observed (P > .5). The time to recurrence was similar in both groups (log-rank, P = .75), with most recurrences (92% Surgisis, 76% Gore-Tex) occurring in the first year. The rates of recurrent herniation and SBO after neonatal prosthetic patch repair of CDH were similar regardless of the prosthetic material used (Surgisis or Gore-Tex).

  20. Enteric nervous system and esophageal-gastrointestinal motility in experimental congenital diaphragmatic hernia.

    Science.gov (United States)

    Pederiva, Federica; Martinez, Leopoldo; Tovar, J A

    2014-04-01

    Gastroesophageal reflux and intestinal distension have been described in survivors of congenital diaphragmatic hernia (CDH). Deficient enteric innervation demonstrated in experimental models is a likely explanation for these symptoms. This study aimed at further characterizing these anomalies and examining esophageal and intestinal motility in this condition. Pregnant rats received either nitrofen or vehicle on E9.5. Sections of E15, E18, and E21 esophagus and small bowel were stained for protein gene product 9.5, nicotinamide adenine dinucleotide phosphate (NADPH) diaphorase (NADPHd), and acetylcholinesterase (AChE). The proportion of neural tissue/muscle surface was measured and the NADPHd- and AChE-positive motor endplates (MEPs) were counted. E18 and E21 stomachs were stained for AChE, the ganglia were counted and measured. The peristalsis of the esophagus and small bowel was video recorded. The relative neural/muscle surface and the number of NADPHd- and AChE-positive MEPs were decreased on E15 and E18 in the esophagus and small bowel of embryos with CDH, but they tended to improve on E21. The number and the mean surface of stomach ganglia were smaller in E18 and E21 fetuses with CDH. Peristaltic movements were decreased in the esophagus and small bowel of animals with CDH. Deficient enteric innervation impaired gastrointestinal motility in experimental CDH. This could explain some long-term morbidity in the human condition. Georg Thieme Verlag KG Stuttgart · New York.

  1. Making meaning of pumping for mothers of infants with congenital diaphragmatic hernia.

    Science.gov (United States)

    Froh, Elizabeth B; Deatrick, Janet A; Curley, Martha A Q; Spatz, Diane L

    2015-01-01

    To describe the process of initiation and maintenance of milk supply and potential transition to direct breastfeeding among mother/infant dyads with infants with congenital diaphragmatic hernia (CDH). A Level-III neonatal intensive care unit. Eleven mother/infant dyads with infants with CDH. Prospective, longitudinal qualitative descriptive design. Semistructured interviews were conducted over the course of the NICU stay. Conventional content analysis was used. Human milk oral care emerged from the interview data as a strong facilitating factor to encouraging mothers to continue pumping during hospitalization. Four main themes emerged regarding the importance and value of human milk oral care for the mothers in relation to pumping and maintenance of milk supply: (a) It motivates me; (b) I'm a part of my baby getting better; (c) We do it together, and (d) We're getting somewhere. The findings of this study reflect the importance and value of human milk oral care as a driving factor to motivate mothers to maintain milk supply during the critical time when the infant with CDH is not able to take in enteral nutrition and throughout the hospital stay. © 2015 AWHONN, the Association of Women's Health, Obstetric and Neonatal Nurses.

  2. Conditional deletion of WT1 in the septum transversum mesenchyme causes congenital diaphragmatic hernia in mice.

    Science.gov (United States)

    Carmona, Rita; Cañete, Ana; Cano, Elena; Ariza, Laura; Rojas, Anabel; Muñoz-Chápuli, Ramon

    2016-09-19

    Congenital diaphragmatic hernia (CDH) is a severe birth defect. Wt1-null mouse embryos develop CDH but the mechanisms regulated by WT1 are unknown. We have generated a murine model with conditional deletion of WT1 in the lateral plate mesoderm, using the G2 enhancer of the Gata4 gene as a driver. 80% of G2-Gata4(Cre);Wt1(fl/fl) embryos developed typical Bochdalek-type CDH. We show that the posthepatic mesenchymal plate coelomic epithelium gives rise to a mesenchyme that populates the pleuroperitoneal folds isolating the pleural cavities before the migration of the somitic myoblasts. This process fails when Wt1 is deleted from this area. Mutant embryos show Raldh2 downregulation in the lateral mesoderm, but not in the intermediate mesoderm. The mutant phenotype was partially rescued by retinoic acid treatment of the pregnant females. Replacement of intermediate by lateral mesoderm recapitulates the evolutionary origin of the diaphragm in mammals. CDH might thus be viewed as an evolutionary atavism.

  3. Abnormalities in pulmonary function in infants with high-risk congenital diaphragmatic hernia.

    Science.gov (United States)

    Rygl, Michal; Rounova, Petra; Sulc, Jan; Slaby, Krystof; Stranak, Zbynek; Pycha, Karel; Svobodova, Tamara; Pohunek, Petr; Skaba, Richard

    2015-09-01

    The aim of the study was to analyze lung growth and abnormality of infant pulmonary function tests (IPFT) in congenital diaphragmatic hernia (CDH) survivors younger than three years of age with respect to unfavorable prognostic factors. Thirty high-risk CDH survivors at the age of 1.32±0.54 years, body weight 9.76±1.25 kg were examined using IPFT: tidal breathing analysis, baby resistance/compliance, whole baby body plethysmography and rapid thoraco-abdominal compression. Gore-Tex patch was used in 13% of patients (GORE group). Pulmonary hypertension was diagnosed and managed in 13% (iNO group). Standard protocols and appropriate reference values were used and obtained data were statistically analysed. High incidence of peripheral airway obstruction (70%), increased value of functional residual capacity (FRCp) 191.3±24.5 mL (126.5±36.9 % predicted; P GORE group (165.7±51.9 versus 120.4±31.2, P Gore-Tex patch, pulmonary hypertension) correlate with more severe alteration of pulmonary function in infants.

  4. Perturbations in Endothelial Dysfunction-Associated Pathways in the Nitrofen-Induced Congenital Diaphragmatic Hernia Model.

    Science.gov (United States)

    Zhaorigetu, Siqin; Bair, Henry; Lu, Jonathan; Jin, Di; Olson, Scott D; Harting, Matthew T

    2018-01-01

    Although it is well known that nitrofen induces congenital diaphragmatic hernia (CDH), including CDH-associated lung hypoplasia and pulmonary hypertension (PH) in rodents, the mechanism of pathogenesis remains largely unclear. It has been reported that pulmonary artery (PA) endothelial cell (EC) dysfunction contributes to the development of PH in CDH. Thus, we hypothesized that there is significant alteration of endothelial dysfunction-associated proteins in nitrofen-induced CDH PAs. Pregnant SD rats received either nitrofen or olive oil on gestational day 9.5. The newborn rats were sacrificed and divided into a CDH (n = 81) and a control (n = 23) group. After PA isolation, the expression of PA endothelial dysfunction-associated proteins was assessed on Western blot and immunostaining. We demonstrate that the expression of C-reactive protein and endothelin-1 and its receptors, ETA and ETB, were significantly increased in the CDH PAs. Levels of phosphorylated myosin light chain were significantly elevated, but those of phosphorylated endothelial nitric oxide synthase, caveolin-1, and mechanistic target of rapamycin were significantly decreased in the CDH PAs. In this work, we elucidate alterations in the expression of endothelial dysfunction-associated proteins specific to nitrofen-induced CDH rodent PAs, thereby advancing our understanding of the critical role of endothelial dysfunction-associated pathways in the pathogenesis of nitrofen-induced CDH. © 2017 S. Karger AG, Basel.

  5. Standardized postnatal management of infants with congenital diaphragmatic hernia in Europe: the CDH EURO Consortium consensus.

    Science.gov (United States)

    Reiss, I; Schaible, T; van den Hout, L; Capolupo, I; Allegaert, K; van Heijst, A; Gorett Silva, M; Greenough, A; Tibboel, D

    2010-01-01

    Congenital diaphragmatic hernia (CDH) is associated with high mortality and morbidity. To date, there are no standardized protocols for the treatment of infants with this anomaly. However, protocols based on the literature and expert opinion might improve outcome. This paper is a consensus statement from the CDH EURO Consortium prepared with the aim of achieving standardized postnatal treatment in European countries. During a consensus meeting between high-volume centers with expertise in the treatment of CDH in Europe (CDH EURO Consortium), the most recent literature on CDH was discussed. Thereafter, 5 experts graded the studies according to the Scottish Intercollegiate Guidelines Network (SIGN) Criteria. Differences in opinion were discussed until full consensus was reached. The final consensus statement, therefore, represents the opinion of all consortium members. Multicenter randomized controlled trials on CDH are lacking. Use of a standardized protocol, however, may contribute to more valid comparisons of patient data in multicenter studies and identification of areas for further research. Copyright © 2010 S. Karger AG, Basel.

  6. Molecular pathogenesis of congenital diaphragmatic hernia revealed by exome sequencing, developmental data, and bioinformatics

    Science.gov (United States)

    Longoni, Mauro; High, Frances A.; Russell, Meaghan K.; Kashani, Alireza; Tracy, Adam A.; Coletti, Caroline M.; Hila, Regis; Shamia, Ahmed; Wells, Julie; Ackerman, Kate G.; Wilson, Jay M.; Bult, Carol J.; Lee, Charles; Lage, Kasper; Pober, Barbara R.; Donahoe, Patricia K.

    2014-01-01

    Congenital diaphragmatic hernia (CDH) is a common and severe birth defect. Despite its clinical significance, the genetic and developmental pathways underlying this disorder are incompletely understood. In this study, we report a catalog of variants detected by a whole exome sequencing study on 275 individuals with CDH. Predicted pathogenic variants in genes previously identified in either humans or mice with diaphragm defects are enriched in our CDH cohort compared with 120 size-matched random gene sets. This enrichment was absent in control populations. Variants in these critical genes can be found in up to 30.9% of individuals with CDH. In addition, we filtered variants by using genes derived from regions of recurrent copy number variations in CDH, expression profiles of the developing diaphragm, protein interaction networks expanded from the known CDH-causing genes, and prioritized genes with ultrarare and highly disruptive variants, in 11.3% of CDH patients. These strategies have identified several high priority genes and developmental pathways that likely contribute to the CDH phenotype. These data are valuable for comparison of candidate genes generated from whole exome sequencing of other CDH cohorts or multiplex kindreds and provide ideal candidates for further functional studies. Furthermore, we propose that these genes and pathways will enhance our understanding of the heterogeneous molecular etiology of CDH. PMID:25107291

  7. Thoracoscopic repair of neonatal congenital diaphragmatic hernia (CDH): outcomes after a systematic quality improvement process.

    Science.gov (United States)

    Jancelewicz, Tim; Langer, Jacob C; Chiang, Monping; Bonnard, Arnaud; Zamakhshary, Mohammed; Chiu, Priscilla P

    2013-02-01

    Higher recurrence rates have been reported for thoracoscopic repair (TR) of neonatal congenital diaphragmatic hernia (CDH) compared to open repair. Our centre initiated changes in surgical management following a quality review in order to improve outcome. A retrospective review of TR patients from 2000 to 2011 at a single institution was performed. A review was done in 2007, and changes were implemented to decrease recurrence rates. These included use of pledgets, an extracorporeal corner stitch, liberal prosthetic patch use, lower insufflation pressures, and TR was limited to two experienced surgeons. Outcome data before and after this quality improvement process were compared. Non-TR patients from the same time period served as controls. Data are quoted as median (range) and non-parametric tests used to compare. P<0.05 was regarded as significant. There were 23 neonatal TR patients with median follow-up of 3.6 (range 0.4-7) years. Median age at repair was 2 (range 0-21) days. There were 5 patch repairs (22%), all after 2008. There were 9 recurrences (39%) at a median time of 162 days after TR, compared to 13 (10%) recurrences in the control cohort. For primary TR, there was a trend towards a decreased recurrence rate from 50% prior to 2008 to 25% after 2008 (P=0.26). Systematic quality review was modestly effective in decreasing the recurrence rate for neonatal TR, but further outcome data are required. Copyright © 2013 Elsevier Inc. All rights reserved.

  8. Immunohistochemical Distribution of Surfactant Apoprotein-A in Congenital Diaphragmatic Hernia-II

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    Koushi Asabe

    2003-10-01

    Full Text Available Morphometric analyses of the immunohistochemical expression of surfactant apoprotein A (SP-A were carried out on the bronchioles of human congenital diaphragmatic hernia (CDH neonates and then compared with those in a gestational and postnatal age-matched control group. There was no difference in SP-A expression between lung specimens of the control group and unaffected lungs in the CDH group. However, compared with both these lungs, the ipsilateral lungs of the CDH group showed a significant increase in SP-A expression, namely, the number of SP-A-positive cells per bronchiole, the number of SP-A-positive cells per unit perimeter of bronchiole, and the number of SP-A-positive cells per unit bronchiolar surface area. These results suggest that in lungs of CDH cases, especially ipsilateral lungs, there is a possible delay in the functional maturation or development of SP-A synthesis by the bronchiole, and this retardation may play a role in the postnatal respiratory insufficiency observed in CDH patients.

  9. Altered Pulmonary Artery Endothelial - Smooth Muscle Cell Interactions in Experimental Congenital Diaphragmatic Hernia

    Science.gov (United States)

    Acker, Shannon N.; Seedorf, Gregory J.; Abman, Steven H.; Nozik-Grayck, Eva; Kuhn, Katherine; Partrick, David A.; Gien, Jason

    2014-01-01

    Background Pulmonary hypertension (PH) secondary to vascular remodeling contributes to poor outcomes in congenital diaphragmatic hernia (CDH), however mechanisms responsible are unknown. We hypothesized that pulmonary artery endothelial cell (PAEC) dysfunction contributes to smooth muscle cell (SMC) hyperplasia in experimental CDH. Methods PAEC and SMC were isolated from fetal sheep with experimental CDH and controls. SMC growth was assessed alone and with SOD plus catalase and during co-culture with control or CDH PAEC with and without ET-1 siRNA transfection. ET-1 protein was measured in PAEC and PASMC lysates and supernatant. ROS production was measured in normal and CDH PAECs with and without ET-1 siRNA. PAEC growth and tube formation were measured with SOD plus catalase. Results CDH SMC growth was decreased and and increased with co-culture with CDH PAEC more than control PAEC. Treatment of CDH PAEC with SOD plus catalase or ET-1 siRNA prevented the increase in SMC growth seen with co-culture. ET-1 protein was increased in CDH PAEC and SMC. ROS production was increased in CDH PAEC and decreased with ET-1 SiRNA. SOD plus catalase restored CDH PAEC growth and tube formation. Conclusions PAEC dysfunction in experimental CDH increases SMC proliferation via ET-1 induced ROS production by PAEC. PMID:25580737

  10. An uncommon case of late-onset congenital diaphragmatic hernia with bloody stool

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    Keisuke Jimbo

    2016-10-01

    Full Text Available Late-onset congenital diaphragmatic hernia (CDH is an uncommon subset of CDH and distinct from neonatal CDH with respect to presenting symptoms, diagnosis, management, and prognosis. In particular, CDH diagnosed after 30 days of age (late-onset CDH is uncommon and has an atypical presentation and a more favorable prognosis. In the present report, an infantile late-onset CDH case that presented with bloody stool and had a severe clinical course is described. In previous reports, no late-onset CDH case developed bloody stool. After diagnosis with image inspections, emergency surgery was performed. At operation, via the hernia orifice, the jejunum was seen to have prolapsed into the thoracic cavity with focally significant intestinal and mesenteric congestion, but no intestinal necrosis. In general, other disorders such as intussusception may be considered in the differential diagnosis of acute abdomen with bloody stool in patients of this age. However, in such late-onset CDH cases, immediate differentiation from other causes of acute abdomen that present with bloody stool is life-saving.

  11. Tracheomegaly: a complication of fetal endoscopic tracheal occlusion in the treatment of congenital diaphragmatic hernia

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    McHugh, Kieran; Afaq, Asim; Roebuck, Derek J. [Great Ormond Street Hospital for Children, Radiology Department, London (United Kingdom); Broderick, Nigel [Nottingham University Hospitals, Radiology Department, Nottingham (United Kingdom); Gabra, Hany O.; Elliott, Martin J. [Great Ormond Street Hospital for Children, Department of Cardiothoracic Surgery, London (United Kingdom)

    2010-05-15

    Fetal endoscopic tracheal occlusion (FETO) is a promising treatment for severe congenital diaphragmatic hernia, a condition that carries significant morbidity and mortality. It is hypothesised that balloon occlusion of the fetal trachea leads to an improvement in lung growth and development. The major documented complications of FETO to date are related to preterm delivery. To report a series of five infants who developed tracheomegaly following FETO. Review of all children referred with tracheomegaly to the paediatric intensive care and tracheal service at two referral centres. Five neonates presented with features of respiratory distress shortly after birth and were subsequently found to have marked tracheomegaly. Two neonates had tracheomalacia in addition. There are no previous reports in the literature describing tracheomalacia, or more specifically, tracheomegaly, as a consequence of FETO. We propose that the particularly compliant fetal airway is at risk of mechanical damage from in utero balloon occlusion. This observation of a new problem in this cohort suggests a thorough evaluation of the trachea should be performed in children who have had FETO in utero. It may be that balloon occlusion of the trachea earlier in utero (before 26 weeks' gestation) predisposes to this condition. (orig.)

  12. Incidence and factors associated with sensorineural and conductive hearing loss among survivors of congenital diaphragmatic hernia.

    Science.gov (United States)

    Partridge, Emily A; Bridge, Christina; Donaher, Joseph G; Herkert, Lisa M; Grill, Elena; Danzer, Enrico; Gerdes, Marsha; Hoffman, Casey H; D'Agostino, Jo Ann; Bernbaum, Judy C; Rintoul, Natalie E; Peranteau, William H; Flake, Alan W; Adzick, N Scott; Hedrick, Holly L

    2014-06-01

    The reported incidence of sensorineural hearing loss (SNHL) in long-term survivors of congenital diaphragmatic hernia varies widely in the literature. Conductive hearing loss (CHL) is also known to occur in CDH patients, but has been less widely studied. We sought to characterize the incidence and risk factors associated with SNHL and CHL in a large cohort of CDH patients who underwent standardized treatment and follow-up at a single institution. We retrospectively reviewed charts of all CDH patients in our pulmonary hypoplasia program from January 2004 through December 2012. Categorical variables were analyzed by Fisher's exact test and continuous variables by Mann-Whitney t-test (p≤0.05). A total of 112 patients met study inclusion criteria, with 3 (2.7%) patients diagnosed with SNHL and 38 (34.0%) diagnosed with CHL. SNHL was significantly associated with requirement for ECMO (p=0.0130), prolonged course of hospitalization (p=0.0011), duration of mechanical ventilation (p=0.0046), requirement for tracheostomy (p=0.0013), and duration of loop diuretic (p=0.0005) and aminoglycoside therapy (p=0.0003). We have identified hearing anomalies in over 30% of long-term CDH survivors. These findings illustrate the need for routine serial audiologic evaluations throughout childhood for all survivors of CDH and stress the importance of targeted interventions to optimize long-term developmental outcomes pertaining to speech and language. Copyright © 2014 Elsevier Inc. All rights reserved.

  13. Congenital diaphragmatic eventration as a cause of anterior mediastinal mass in the children: imaging modalities and literature review

    International Nuclear Information System (INIS)

    Eren, Suat; Ceviz, Naci; Alper, Fatih

    2004-01-01

    Congenital eventration of the diaphragm, as a cause of mediastinal mass, is an unusual condition and it may be unilateral or bilateral. Although this entity is frequently asymptomatic and firstly detected on the chest radiography, it may be difficult to distinguish a partial eventration from the other diaphragmatic lesions or mediastinal pathologies on the chest radiographs. US may present valuable information about diaphragm integrity with eventration content or the other diaphragmatic pathologies. Although the other imaging modalities such as fluoroscopy, computed tomography, and MR imaging may be performed as adjunct techniques in cases of the diagnosis still in doubt, they are frequently unnecessary after US. Our goal is to present imaging features and management of this entity together with a literature review

  14. Evaluation of Neonatal Lung Volume Growth by Pulmonary Magnetic Resonance Imaging in Patients with Congenital Diaphragmatic Hernia.

    Science.gov (United States)

    Schopper, Melissa A; Walkup, Laura L; Tkach, Jean A; Higano, Nara S; Lim, Foong Yen; Haberman, Beth; Woods, Jason C; Kingma, Paul S

    2017-09-01

    To evaluate postnatal lung volume in infants with congenital diaphragmatic hernia (CDH) and determine if a compensatory increase in lung volume occurs during the postnatal period. Using a novel pulmonary magnetic resonance imaging method for imaging neonatal lungs, the postnatal lung volumes in infants with CDH were determined and compared with prenatal lung volumes obtained via late gestation magnetic resonance imaging. Infants with left-sided CDH (2 mild, 9 moderate, and 1 severe) were evaluated. The total lung volume increased in all infants, with the contralateral lung increasing faster than the ipsilateral lung (mean ± SD: 4.9 ± 3.0 mL/week vs 3.4 ± 2.1 mL/week, P = .005). In contrast to prenatal studies, the volume of lungs of infants with more severe CDH grew faster than the lungs of infants with more mild CDH (Spearman's ρ=-0.086, P = .01). Although the contralateral lung volume grew faster in both mild and moderate groups, the majority of total lung volume growth in moderate CDH came from increased volume of the ipsilateral lung (42% of total lung volume increase in the moderate group vs 32% of total lung volume increase in the mild group, P = .09). Analysis of multiple clinical variables suggests that increased weight gain was associated with increased compensatory ipsilateral lung volume growth (ρ = 0.57, P = .05). These results suggest a potential for postnatal catch-up growth in infants with pulmonary hypoplasia and suggest that weight gain may increase the volume growth of the more severely affected lung. Copyright © 2017 Elsevier Inc. All rights reserved.

  15. Prevention of pulmonary hypoplasia and pulmonary vascular remodeling by antenatal simvastatin treatment in nitrofen-induced congenital diaphragmatic hernia

    Science.gov (United States)

    Makanga, Martine; Maruyama, Hidekazu; Dewachter, Celine; Da Costa, Agnès Mendes; Hupkens, Emeline; de Medina, Geoffrey; Naeije, Robert

    2015-01-01

    Congenital diaphragmatic hernia (CDH) has a high mortality rate mainly due to lung hypoplasia and persistent pulmonary hypertension of the newborn (PPHN). Simvastatin has been shown to prevent the development of pulmonary hypertension (PH) in experimental models of PH. We, therefore, hypothesized that antenatal simvastatin would attenuate PPHN in nitrofen-induced CDH in rats. The efficacy of antenatal simvastatin was compared with antenatal sildenafil, which has already been shown to improve pathological features of PPHN in nitrofen-induced CDH. On embryonic day (E) 9.5, nitrofen or vehicle was administered to pregnant Sprague-Dawley rats. On E11, nitrofen-treated rats were randomly assigned to antenatal simvastatin (20 mg·kg−1·day−1 orally), antenatal sildenafil (100 mg·kg−1·day−1 orally), or placebo administration from E11 to E21. On E21, fetuses were delivered by cesarean section, killed, and checked for left-sided CDH. Lung tissue was then harvested for further pathobiological evaluation. In nitrofen-induced CDH, simvastatin failed to reduce the incidence of nitrofen-induced CDH in the offspring and to increase the body weight, but improved the lung-to-body weight ratio and lung parenchyma structure. Antenatal simvastatin restored the pulmonary vessel density and external diameter, and reduced the pulmonary arteriolar remodeling compared with nitrofen-induced CDH. This was associated with decreased lung expression of endothelin precursor, endothelin type A and B receptors, endothelial and inducible nitric oxide synthase, together with restored lung activation of apoptotic processes mainly in the epithelium. Antenatal simvastatin presented similar effects as antenatal therapy with sildenafil on nitrofen-induced CDH. Antenatal simvastatin improves pathological features of lung hypoplasia and PPHN in experimental nitrofen-induced CDH. PMID:25617377

  16. Congenital cranial ventral abdominal hernia, peritoneopericardial diaphragmatic hernia and sternal cleft in a 4-year-old multiparous pregnant queen

    Directory of Open Access Journals (Sweden)

    Camille Bismuth

    2017-12-01

    Full Text Available Case summary Cranial ventral midline hernias, most often congenital, can be associated with other congenital abnormalities, such as sternal, diaphragmatic or cardiac malformations. A 4-year-old multiparous queen with a substernal hernia was admitted for evaluation of a mammary mass. During CT examination, a bifid sternum, the abdominal hernia containing the intestines, spleen, omentum, three fetuses, a mammary mass and an incidental peritoneopericardial diaphragmatic hernia were identified. Surgery consisted of a standard ovariohysterectomy and repair of the peritoneopericardial hernia. Primary closure of the abdominal hernia was attempted but deemed impossible even after the ovariohysterectomy, splenectomy and a partial omentectomy. An external abdominal oblique muscle flap was used to close with no tension on the cranial part of the hernia. One month postoperatively, the queen had no respiratory abnormalities and the herniorrhaphy was fully healed. Relevance and novel information This case is the first description of a 4-year-old multiparous pregnant queen with complex congenital malformations and surgical correction of a peritoneopericardial hernia and a 6 × 8 cmsubsternal hernia with an external abdominal oblique muscle flap. Life-threatening sequelae associated with large abdominal hernias can be attributed to space-occupying effects known as loss of domain and compartment syndrome, which is why a muscle flap was used in this case. The sternal cleft was not repaired because of the size of the cleft and the age of the cat.

  17. Outcomes after muscle flap vs prosthetic patch repair for large congenital diaphragmatic hernias.

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    Nasr, Ahmed; Struijs, Marie-Chantal; Ein, Sigmund H; Langer, Jacob C; Chiu, Priscilla P L

    2010-01-01

    Repair of large congenital diaphragmatic hernia (CDH) defects still pose a significant challenge, as the defects cannot be repaired primarily. Two techniques have been widely used: autologous anterior abdominal wall muscle flap and prosthetic patch. The latter has been used more often. Our goal was to compare the short-term and long-term outcomes of these 2 approaches. This is a retrospective review of all neonates undergoing CDH repair at our institution from 1969 to 2006. Of 188 children undergoing surgery for CDH, primary repair could not be accomplished in 51 infants (27%). Nineteen had muscle flap repair, and 32 had prosthetic patch repair (Gore-Tex [W.L. Gore and Associates, Flagstaff, AZ], n = 15; Marlex [Bard Inc, Cranston, NJ], n = 9; Surgisis [Cook, Bloomington, IN], n = 5; SILASTIC [Dow Corning, Midland, MI], n = 3). There was no significant difference in gestational age or birth weight between groups. Three patients developed an abdominal wall defect at the muscle flap donor site, but none required surgical intervention. Chest wall deformities were found in 9 patients, 3 after a muscle flap and 6 after a prosthetic patch (P = .7). Postoperative bowel obstruction occurred in 3 muscle flap patients and 1 patch patient (P = .2). There were 10 recurrences among survivors: 2 after a muscle flap and 8 after a prosthetic patch (P = .3) There were 2 deaths among the muscle flap patients (10%), and 3 deaths among the prosthetic patch repair patients (9%) (P = .1). Results were confirmed after controlling for age and comorbidities between both groups in a multivariate logistic regression. These results suggest that autologous anterior abdominal wall muscle flap and prosthetic patch repairs provide similar short-term and long-term outcomes. Copyright 2010 Elsevier Inc. All rights reserved.

  18. Health-related quality of life and its determinants in children with a congenital diaphragmatic hernia

    Science.gov (United States)

    2013-01-01

    Background The development of new therapeutics has led to progress in the early management of congenital diaphragmatic hernia (CDH) in pediatric intensive care units (PICU). Little is known about the impact on the quality of life (QoL) of children and their family. The aim of this study was to assess the impact of CDH treated according to the most recent concepts and methods outlined above on child survivors’ QoL and their parents’ QoL. Patients and methods This study incorporated a cross-sectional design performed in two PICU (Marseille, France). Families of CDH survivors born between 1999 and 2008 were eligible. The following data were recorded: socio-demographics, antenatal history and delivery, initial hospitalization history. Self-reported data were collected by mail, including current clinical problems of the children (13-symptom list), children’s QoL (Kidscreen-27 questionnaire), and parents’ QoL (Short-Form 36 questionnaire). Children’s QoL score was compared with controls and QoL of survivors of childhood leukemia. Parent’s QoL was compared with controls. Non-parametric statistics were employed. Results Forty-two families agreed to participate and questionnaires were completed by 32 of them. Twenty-one children had a current clinical problems related to CDH. All the QoL scores of CHD survivors were significantly lower compared with controls. The physical well-being dimension was significantly higher for CHD survivors compared with survivors of childhood leukemia. Gastro-esophageal reflux at discharge, antenatal diagnosis, length of stay in the PICU, and neuropsychological and respiratory issues significantly impacted QoL scores of children. The parents of CHD survivors had significantly poorer score in emotional role dimension compared with controls. Conclusion The impact of CDH on QoL seems to be important and must be understood by clinicians who treat these children and their parents. PMID:23786966

  19. Neurotrophins expression is decreased in lungs of human infants with congenital diaphragmatic hernia

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    O'Hanlon LD

    2014-02-01

    Full Text Available Lynn D O'Hanlon, Sherry M Mabry, Ikechukwu I EkekezieChildren's Mercy Hospitals/University of Missouri-Kansas City School of Medicine, Department of Pediatrics, Section of Neonatal-Perinatal Medicine, Kansas City, MO, USAObjectives: To evaluate neurotrophin (NT (nerve growth factor [NGF], NT-3, and brain-derived neurotrophic factor [BDNF] expression in autopsy lung tissues of human congenital diaphragmatic hernia (CDH infants versus that of infants that expired with: 1 "normal" lungs (controls; 2 chronic lung disease (CLD; and 3 pulmonary hypertension (PPHN.Hypothesis: NT expression will be significantly altered in CDH lung tissue compared with normal lung tissue and other neonatal lung diseases.Study design: Immunohistochemical studies for NT proteins NGF, BDNF, and NT-3 were applied to human autopsy neonatal lung tissue samples.Subject selection: The samples included a control group of 18 samples ranging from 23-week gestational age to term, a CDH group of 15 samples, a PPHN group of six samples, and a CLD group of 12 samples.Methodology: The tissue samples were studied, and four representative slide fields of alveoli/saccules and four of bronchioles were recorded from each sample. These slide fields were then graded (from 0 to 3 by three blinded observers for intensity of staining.Results: BDNF, NGF, and NT-3 immunostaining intensity scores were significantly decreased in the CDH lung tissue (n=15 compared with normal neonatal lung tissue (n=18 (P<0.001. The other neonatal pulmonary diseases that were studied, CLD and PPHN, were much less likely to be affected and were much more variable in their neurotrophin expression.Conclusion: NT expression is decreased in CDH lungs. The decreased expression of NT in CDH lung tissue may suggest they contribute to the abnormality in this condition.Keywords: nerve growth factor, NGF, brain-derived neurotrophic factor, BDNF, neurotrophin-3, NT-3, chronic lung disease, persistent pulmonary hypertension, lung

  20. De novo copy number variants are associated with congenital diaphragmatic hernia

    Science.gov (United States)

    Yu, Lan; Wynn, Julia; Ma, Lijiang; Guha, Saurav; Mychaliska, George B.; Crombleholme, Timothy M.; Azarow, Kenneth S.; Lim, Foong Yen; Chung, Dai H.; Potoka, Douglas; Warner, Brad W.; Bucher, Brian; LeDuc, Charles A.; Costa, Katherine; Stolar, Charles; Aspelund, Gudrun; Arkovitz, Marc; Chung, Wendy K.

    2013-01-01

    Background Congenital diaphragmatic hernia (CDH) is a common birth defect with significant morbidity and mortality. Although the etiology of CDH remains poorly understood, studies from animal models and patients with CDH suggest that genetic factors play an important role in the development of CDH. Chromosomal anomalies have been reported in CDH. Methods In this study, the authors investigate the frequency of chromosomal anomalies and copy number variants in 256 parent-child trios of CDH using clinical conventional cytogenetic and microarray analysis. The authors also selected a set of CDH related training genes to prioritize the genes in those segmental aneuploidies and identified the genes and gene sets that may contribute to the etiology of CDH. Results The authors identified chromosomal anomalies in 16 patients (6.3 %) of the series including 3 aneuploidies, 2 unbalanced translocation, and 11 patients with de novo CNVs ranging in size from 95 kb to 104.6 Mb. The authors prioritized the genes in the CNV segments and identified KCNA2, LMNA, CACNA1S, MYOG, HLX, LBR, AGT, GATA4, SOX7, HYLS1, FOXC1, FOXF2, PDGFA, FGF6, COL4A1, COL4A2, HOMER2, BNC1, BID, and TBX1 as genes that may be involved in diaphragm development. Gene enrichment analysis identified the most relevant gene ontology (GO) categories as those involved in tissue development (p=4.4×10−11) or regulation of multicellular organismal processes (p=2.8×10−10) and “receptor binding” (p = 8.7×10−14) and “DNA binding transcription factor activity” (p= 4.4×10−10). Conclusions Our findings support the role of chromosomal anomalies in CDH and provide a set of candidate genes including FOXC1, FOXF2, PDGFA, FGF6, COL4A1, COL4A2, SOX7,BNC1, BID, and TBX1 for further analysis in CDH. PMID:23054247

  1. Predictors of prognosis in neonates with congenital diaphragmatic hernia: experience of 12 years

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    Catarina Granjo Morais

    2017-01-01

    Full Text Available Introduction: Congenital diaphragmatic hernia (CDH is a severe malformation, displaying relevant mortality and morbidity rates in newborns.Aim: To characterize clinically and demographically all neonatal cases of CDH admitted to a level III Neonatal Intensive Care Unit during a 12-year period and to evaluate the predictive value of baseline characteristics on mortality and morbidity at discharge.Methods: Maternal/infant clinical and electronic records were ret-rospectively reviewed. All neonates with posterolateral CDH admitted between January 2003 and December 2014 were included.Results: Fifty-three newborns were included. Overall mortality during hospitalization was 22/53 (41.5%. Clinical characteristics associated with mortality were the presence of intrathoracic liver (p = 0.005, intrathoracic stomach (p = 0.015, elevated arterial pCO2 or lower pH values at admission (respectively, p = 0.001 and p < 0.001, pre-ductal oxygen saturation < 85% at admission (p = 0.012 and surgical repair with prosthetic patch (p = 0.041. Morbidity at discharge was reported in 7 (22.6% survivors. Stomach herniation and sepsis were associated with higher morbidity (respectively, p = 0.012 and p = 0.029. In a logistic regression, patch repair was the only variable with predictive value for death during hospitalization, with an odds ratio (OR of 15 (95% CI 0.98-228.9, and intrathoracic stomach was a predictor of morbidity at discharge (OR = 15.7, 95% CI 1.4-174.2.Conclusion: Structural characteristics, namely defect size and presence of intrathoracic stomach, remain the primary determinants of neonatal prognosis in CDH. Although post-natal approaches have progressively proven their value in increasing survival and improving management of high-risk cases, future researches should continue focusing on the definition of foetal anatomical markers of severity and prenatal treatment of CDH.

  2. Downregulated Elastin Microfibril Interfacer 1 Expression in the Pulmonary Vasculature of Experimental Congenital Diaphragmatic Hernia.

    Science.gov (United States)

    Zimmer, Julia; Takahashi, Toshiaki; Hofmann, Alejandro D; Puri, Prem

    2018-02-01

     Pulmonary hypertension (PH) is a severe complication of congenital diaphragmatic hernia (CDH). Transforming growth factor-β (TGFβ) signaling is suggested to be involved in PH development by regulating embryonic angiogenesis, cell proliferation, and cell differentiation. Altered TGFβ signaling has been demonstrated in experimental CDH lungs. Elastin microfibril interfacer 1 (Emilin-1) is an extracellular matrix glycoprotein expressed in endothelial and vascular smooth muscle cells and known to regulate TGFβ processing and arterial diameter. We designed this study to investigate the pulmonary vascular expression of Emilin-1 in nitrofen-induced CDH rats.  Following ethical approval (REC913b, REC1103), time-pregnant Sprague Dawley rats received nitrofen or vehicle on gestational day 9 (D9). Fetuses were sacrificed on D21 and divided into CDH group and control group. Quantitative real-time polymerase chain reaction ( n  = 11 each group), Western blot analysis, and confocal microscopy were used to determine the gene and protein expression of Emilin-1.  Relative Emilin-1 messenger RNA (ribonucleic acid) levels were significantly downregulated in CDH lung tissue compared with controls (CDH: 0.043 ± 0.003; control: 0.067 ± 0.004; p  CDH lungs. Confocal microscopy demonstrated a markedly diminished expression of Emilin-1 in the CDH pulmonary vasculature compared with controls.  To our knowledge, this study demonstrates for the first time a decreased Emilin-1 gene and protein expression in the pulmonary vasculature of nitrofen-induced CDH. Emilin-1 deficiency through its interaction with TGFß may result in abnormal vascular remodeling resulting in PH in this model. Georg Thieme Verlag KG Stuttgart · New York.

  3. Comparison between late-presenting and isolated neonatal congenital diaphragmatic hernias

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    Christos Plataras

    2011-01-01

    Full Text Available Purpose: Late-presenting posterolateral congenital diaphragmatic hernias (CDH are anatomically similar to isolated neonatal CDH but are diagnosed and treated after the first month of life. We aim to characterise the clinical manifestations and short-term postoperative course of this entity and compare it with isolated CDH of the neonatal period. Materials and Methods: In the 30-year period from 1980 to 2010, 116 children with CDH were treated at the Aghia Sophia Children′s Hospital, Athens, Greece. Twenty-three (19% of these children were late-presenting cases, being diagnosed between the ages of 1 month and 4 years. Ninety-three were neonatal cases, of whom 22 (24% were excluded due to severe associated anomalies, leaving 71 cases of isolated neonatal CDH. We compared these two groups of patients with regard to preoperative symptoms, postoperative hospital stay, time to complete feeding, overall complication rate, and reoperation rate. Results: Isolated neonatal cases presented more often with acute respiratory symptoms (n=25; P= 0.016 and failure to thrive (n= 38; P= 0.03. Late-presenting cases presented more often with chronic respiratory symptoms (n=14;P= 0.0044 or gastrointestinal symptoms (n=12; P= 0.006. Thirty-five cases with minor or serious complications were reported in the neonatal group, whereas only five complications were observed in the late-presenting group (P= 0.028. We did not record any recurrences or reoperations in the late-presenting group, but we had two recurrences and three reoperations in the neonatal group. Time to full feeds and postoperative hospital stay was shorter in the late-presenting group. Conclusions: Our data demonstrate differences between the two groups in preoperative symptoms and short-term postoperative complications and short-term outcome. Late-presenting cases of CDH had a greater number of chronic symptoms preoperatively, more favorable postoperative outcomes, and less recurrences and reoperations.

  4. Risk of Readmission for Wheezing during Infancy in Children with Congenital Diaphragmatic Hernia.

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    Gregoire Benoist

    Full Text Available Congenital diaphragmatic hernia (CDH is associated with a high incidence of respiratory problems, even after initial hospital discharge. These problems are likely to lead to re-hospitalization during infancy, although actual frequency of readmissions is unknown.We aimed to determine the rate of hospitalization for wheezing in infants with CDH between the time of initial discharge and 24 months of age, and to identify factors associated with readmission.Data about infants with CDH born in three French reference tertiary centers between January 2009 and March 2013 who were alive at hospital discharge, were extracted from a prospective national database.Ninety-two children were identified, and 86 were included in the analysis. In total, 116 wheezing episodes requiring a doctor's visit occurred in 50 infants (58% before 24 months of age. Twenty-two children (26% were readmitted at least once for wheezing exacerbations. RSV was present in 6 of 15 (40% of children with available nasal samples at first readmission, and 1 of 5 (20% at second readmission. Thoracic herniation of the liver, low gestational age, longer initial hospitalization, need for oxygen therapy at home, and eczema were all significantly associated with readmission for wheezing exacerbations. Fifty-three infants (62% received palivizumab prophylaxis, but there was no association with the overall rate of readmission for wheezing exacerbations or RSV-related hospitalization.The rate of readmission for wheezing among infants with CDH is high, and significantly influenced by several prenatal and neonatal factors. Palivizumab prophylaxis was not associated with the rate of readmission.

  5. The CDH Study Group and advances in the clinical care of the patient with congenital diaphragmatic hernia.

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    Doyle, Nora M; Lally, Kevin P

    2004-06-01

    Congenital diaphragmatic hernia (CDH) occurs in 1 of every 2000 to 4000 births and accounts for 8% of all major congenital anomalies. Recurrence risk for a subsequent pregnancy is estimated at 2%. The mortality rate for CDH when diagnosed antenatally, varies with fetal age and with the presence or absence of hydramnios and degree of pulmonary hypoplasia. The prognosis has improved dramatically in recent years, primarily due to advances in neonatal and surgical interventions. Neonatal survival rates with an antenatal diagnosis now exceed 80% in some centers. Treatment for infants with CDH reflects other pediatric surgical problems in that a majority of the clinical research that shapes treatment is retrospective in nature. Because CDH is a relatively rare disease, using a compilation of cases, such as the CDH database provides, greatly aids our understanding of this disease process. Moreover, the application of a quality assessment scale provides the practitioner with a knowledge base to critically evaluate the published retrospective data.

  6. Targeted array comparative genomic hybridisation (array CGH) identifies genomic imbalances associated with isolated congenital diaphragmatic hernia (CDH).

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    Srisupundit, Kasemsri; Brady, Paul D; Devriendt, Koenraad; Fryns, Jean-Pierre; Cruz-Martinez, Rogelio; Gratacos, Eduard; Deprest, Jan A; Vermeesch, Joris R

    2010-12-01

    Congenital diaphragmatic hernia (CDH) is a congenital birth defect affecting around 1/3000 births. We propose that a significant number of isolated CDH cases have an underlying genetic cause, and that a subset of these result from copy number variations (CNVs) identifiable by array CGH. We have designed a custom array targeted at genes and genomic loci associated with CDH. A total of 79 isolated CDH patients were screened using this targeted array. In three patients, we detected genomic imbalances associated with the observed diaphragmatic hernia; a deletion of 8p22-p23.3, 14.2 Mb in size, a 340 kb duplication of Xq13.1 including the ephrin-B1 gene (EFNB1), and mosaicism for trisomy 2. Using this approach, we detected genomic imbalances associated with CDH in 3/79 (4%) isolated CDH patients. Our findings further implicate 8p deletions as being associated with CDH. The duplication of EFNB1 further highlights this gene as a potential candidate involved in diaphragm development. Mosaicism for trisomy 2 is a rare event and unlikely to be a common cause of CDH. Further investigations of isolated CDH patients by array CGH will continue to identify novel submicroscopic loci and refine genomic regions associated with CDH. Copyright © 2010 John Wiley & Sons, Ltd.

  7. Prenatal detection and outcome of congenital diaphragmatic hernia (CDH) associated with deletion of chromosome 15q26: two patients and review of the literature.

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    Klaassens, M; Galjaard, R J H; Scott, D A; Brüggenwirth, H T; van Opstal, D; Fox, M V; Higgins, R R; Cohen-Overbeek, T E; Schoonderwaldt, E M; Lee, B; Tibboel, D; de Klein, A

    2007-09-15

    Congenital diaphragmatic hernia (CDH) is a severe birth defect characterized by a defect in the diaphragm with pulmonary hypoplasia and postnatal pulmonary hypertension. Approximately 50% of CDH cases are associated with other non-pulmonary congenital anomalies (so called non-isolated CDH) and in 5-10% of cases there is a chromosomal etiology. The majority of CDH cases are detected prenatally. In some cases prenatal chromosome analysis reveals a causative chromosomal anomaly, most often aneuploidy. Deletion of 15q26 is the most frequently described structural chromosomal aberration in patients with non-isolated CDH. In this paper we report on two patients with a deletion of 15q26 and phenotypes similar to other patients with CDH caused by 15q26 deletions. This phenotype consists of intra-uterine growth retardation, left-sided CDH, cardiac anomalies and characteristic facial features, similar to those seen in Fryns syndrome. We propose that when this combination of birth defects is identified, either pre- or postnatally, further investigations to confirm or exclude a deletion of 15q26 are indicated, since the diagnosis of this deletion will have major consequences for the prognosis and, therefore, can affect decision making. (c) 2007 Wiley-Liss, Inc.

  8. Congenital diaphragmatic hernia and chromosome 15q26: Determination of a candidate region by use of fluorescent in situ hybridization and array-based comparative genomic hybridization

    NARCIS (Netherlands)

    M. Klaassens (Merel); M.F. van Dooren (Marieke); H.J.F.M.M. Eussen (Bert); H. Douben (Hannie); A. Dekker (Anita); C. Lee (Charles); P.K. Donahoe; R-J.H. Galjaard (Robert-Jan); N.N.T. Goemaere (Natascha); R.R. de Krijger (Ronald); C.H. Wouters (Cokkie); J. Wauters (Jan); B.A. Oostra (Ben); D. Tibboel (Dick); J.E.M.M. de Klein (Annelies)

    2005-01-01

    textabstractCongenital diaphragmatic hernia (CDH) has an incidence of 1 in 3,000 births and a high mortality rate (33%-58%). Multifactorial inheritance, teratogenic agents, and genetic abnormalities have all been suggested as possible etiologic factors. To define candidate regions for CDH, we

  9. Congenital diaphragmatic hernia and chromosome 15q26: determination of a candidate region by use of fluorescent in situ hybridization and array-based comparative genomic hybridization

    NARCIS (Netherlands)

    M. Klaassens (Merel); C. Wouters (Cokkie); M.F. van Dooren (Marieke); H.J.F.M.M. Eussen (Bert); H. Douben (Hannie); J.E.M.M. de Klein (Annelies); A.T. den Dekker (Alexander); C. Lee; P.K. Donahoe; D. Tibboel (Dick); R-J.H. Galjaard (Robert-Jan); N.N.T. Goemaere (Natascha); B.A. Oostra (Ben); R.R. de Krijger (Ronald); J. Wauters (Jan)

    2005-01-01

    textabstractCongenital diaphragmatic hernia (CDH) has an incidence of 1 in 3,000 births and a high mortality rate (33%-58%). Multifactorial inheritance, teratogenic agents, and genetic abnormalities have all been suggested as possible etiologic factors. To define candidate

  10. Outcomes in the physiologically most severe congenital diaphragmatic hernia (CDH) patients: Whom should we treat?

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    Kays, David W; Islam, Saleem; Perkins, Joy M; Larson, Shawn D; Taylor, Janice A; Talbert, James L

    2015-06-01

    Centers that care for newborns with congenital diaphragmatic hernia (CDH) may impose selection criteria for offering or limiting aggressive support in those patients most severely affected. The purpose of this study was to analyze outcomes in newborns with highly severe CDH uniformly treated for survival. We reviewed 172 consecutive inborn patients without associated lethal anomalies treated at a single institution with a dedicated CDH program. Survival, respiratory outcome, and time to discharge in the most severe 10% (or fewer) of patients based on the physiologic measures of 5-minute Apgar, CDH Study Group (CDHSG) predicted survival, need for ECMO in the first 6 hours, and need for ECMO in the first 3 hours of life were studied. We also identified patients with best PaCO2 greater than 100 and best pH less than 7.0. A multivariate model (AUC-0.92) predicting mortality was also used to define the most severe 10%. Of 172 consecutive inborn patients, 18 had a 5-minute Apgar of 3 or less, and 11 survived (61%), 10 had a 5-minute Apgar of 2 or less, and 6 survived (60%), and 6 had a 5-minute Apgar of 1 or less, and 4 survived (67%). Seventeen had a CDHSG predicted survival less than 25%, and 9 survived (53%). Thirteen of 172 required ECMO for rescue in the first 6 hours of life, and 9 survived (69%), including 7 in the first 3 hours, and 5 survived (71%). Despite focused resuscitation in the delivery room and high levels of ventilatory support, 22 patients had a best PCO2 greater than 100 and best pH less than 7.0 for 1 hour or longer. Twelve of these 22 survived to discharge (55%). Of 17 defined by multivariate predictive modeling as the most severe, 8 survived (47%) with zero of the 3 ECMO ineligible prematures surviving. Of the 16 (10%) most severe ECMO-eligible patients, 10 of 16 survived (63%). All survivors were discharged home on no ventilatory support greater than nasal cannula oxygen. In newborn CDH patients without lethal associated anomalies, accepted

  11. Outcomes in the Physiologically Most Severe Congenital Diaphragmatic (CDH) Patients: Whom Should We Treat?

    Science.gov (United States)

    Kays, David W; Islam, Saleem; Perkins, Joy M.; Larson, Shawn D; Taylor, Janice A.; Talbert, James L

    2015-01-01

    Purpose Centers that care for newborns with Congenital Diaphragmatic Hernia (CDH) may impose selection criteria for offering or limiting aggressive support in those patients most severely affected. The purpose of this study was to analyze outcomes in newborns with highly severe CDH uniformly treated for survival. Methods We reviewed 172 consecutive inborn patients without associated lethal anomalies treated at a single institution with a dedicated CDH program. Survival, respiratory outcome, and time to discharge in the most severe 10% (or fewer) of patients based on the physiologic measures of 5-minute Apgar, CDH Study Group (CDHSG) predicted survival, need for ECMO in the first 6 hours, and need for ECMO in the first 3 hours of life were studied. We also identified patients with best PaCO2 greater than 100 and best pH less than 7.0. A multivariate model (AUC-0.92) predicting mortality was also used to define the most severe 10%. Results Of 172 consecutive inborn patients, 18 had a 5-minute Apgar of 3 or less, and 11 survived (61%), 10 had a 5-minute Apgar of 2 or less, and 6 survived (60%), and 6 had a 5-minute Apgar of 1 or less, and 4 survived (67%). Seventeen had a CDHSG predicted survival less than 25%, and 9 survived (53%). Thirteen of 172 required ECMO for rescue in the first 6 hours of life, and 9 survived (69%), including 7 in the first 3 hours, and 5 survived (71%). Despite focused resuscitation in the delivery room and high levels of ventilatory support, 22 patients had a best PCO2 greater than 100 and best pH less than 7.0 for 1 hour or longer. Twelve of these 22 survived to discharge (55%). Of 17 defined by multivariate predictive model as the most severe, 8 survived (47%) with zero of the 3 ECMO ineligible prematures surviving. Of the 16 (10%) most severe ECMO-eligible patients, 10 of 16 survived (63%). All survivors were discharged home on no ventilatory support greater than nasal cannula oxygen. Conclusion In newborn CDH patients without lethal

  12. The Surgical Correction of Congenital Deformities: The Treatment of Diaphragmatic Hernia, Esophageal Atresia and Small Bowel Atresia.

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    Wessel, Lucas M; Fuchs, Jörg; Rolle, Udo

    2015-05-15

    More than half of all congenital deformities can be detected in utero. The initial surgical correction is of paramount importance for the achievement of good long-term results with low surgical morbidity and mortality. Selective literature review and expert opinion. Congenital deformities are rare, and no controlled trials have been performed to determine their optimal treatment. In this article, we present the prenatal assessment, treatment, and long-term results of selected types of congenital deformity. Congenital diaphragmatic hernia (CDH) affects one in 3500 live-born infants, while esophageal atresia affects one in 3000 and small-bowel atresia one in 5000 to 10,000. If a congenital deformity is detected and its prognosis can be reliably inferred from a prenatal assessment, the child should be delivered at a specialized center (level 1 perinatal center). The associated survival rates are 60-80% after treatment for CDH and well over 90% after treatment for esophageal or small-bowel atresia. Despite improvements in surgical correction over the years, complications and comorbidities still affect 20-40% of the treated children. These are not limited to surgical complications in the narrow sense, such as recurrence, postoperative adhesions and obstruction, stenoses, strictures, and recurrent fistulae, but also include pulmonary problems (chronic lung disease, obstructive and restrictive pulmonary dysfunction), gastrointestinal problems (dysphagia, gastro-esophageal reflux, impaired intestinal motility), and failure to thrive. Moreover, the affected children can develop emotional and behavioral disturbances. Minimally invasive surgery in experienced hands yields results as good as those of conventional surgery, as long as proper selection criteria are observed. Congenital deformities should be treated in recognized centers with highly experienced interdisciplinary teams. As no randomized trials of surgery for congenital deformities are available, longitudinal

  13. Tension gastrothorax: acute life-threatening manifestation of late onset congenital diaphragmatic hernia (CDH) in children.

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    Næss, Pål Aksel; Wiborg, Joachim; Kjellevold, Kristin; Gaarder, Christine

    2015-06-24

    Tension gastrothorax in children is a life-threatening condition and presents dramatically with acute and severe respiratory distress. It develops when an intra-thoracic stomach herniated through a diaphragmatic defect is massively distended by trapped air and/or fluid causing mediastinal displacement. Tension gastrothorax is often misinterpreted as tension pneumothorax and managed as such leading to increased morbidity and mortality. We present a child with tension gastrothorax and a literature review of this phenomenon.Immediate clinical and radiographic evaluation should lead to accurate diagnosis followed by emergency decompression of the stomach before laparotomy with reduction of herniated viscera and repair of the diaphragmatic defect.

  14. Diaphragmatic left ventricular aneurysm. Clinical features, surgical treatment, and long-term follow-up in 22 patients.

    Science.gov (United States)

    Codini, M A; Ruggie, N T; Goldin, M D; Messer, J V; Najafi, H

    1982-04-01

    Although the formation of a left ventricular aneurysm (LVA) is a common and well-recognized complication of myocardial infarction (MI), diaphragmatic LVA is a rare clinical entity. Of 354 consecutive patients who underwent LVA resection, we describe the clinical features and surgical results of 22 patients (6%) with diaphragmatic LVA. All patients had a history of MI. The principal clinical indication for surgery was heart failure in nine patients, angina pectoris in ten patients, and recurrent ventricular tachycardia unresponsive to medical therapy in three patients. A ventricular septal defect was present in two patients, and moderate to severe mitral regurgitation was present in four patients. Three of the four surgical deaths (operative mortality, 18%) occurred in patients with mitral regurgitation or with ventricular septal defect. Eleven patients are alive at a mean follow-up of 40 months. Six of them are asymptomatic and two have angina at a higher level of physical activity than before surgery. Notable differences exist in the clinical presentation and surgical findings between patients with diaphragmatic and anterior LVA.

  15. Findings from aCGH in patients with congenital diaphragmatic hernia (CDH): a possible locus for Fryns syndrome.

    Science.gov (United States)

    Kantarci, S; Casavant, D; Prada, C; Russell, M; Byrne, J; Haug, L Wilkins; Jennings, R; Manning, S; Boyd, T K; Fryns, J P; Holmes, L B; Donahoe, P K; Lee, C; Kimonis, V; Pober, B R

    2006-01-01

    Congenital diaphragmatic hernia (CDH) is a common and often devastating birth defect that can occur in isolation or as part of a malformation complex. Considerable progress is being made in the identification of genetic causes of CDH. We applied array-based comparative genomic hybridization (aCGH) of approximately 1Mb resolution to 29 CDH patients with prior normal karyotypes who had been recruited into our multi-site study. One patient, clinically diagnosed with Fryns syndrome, demonstrated a de novo 5Mb deletion at chromosome region 1q41-q42.12 that was confirmed by FISH. Given prior reports of CDH in association with cytogenetic abnormalities in this region, we propose that this represents a locus for Fryns syndrome, a Fryns syndrome phenocopy, or CDH. (c) 2005 Wiley-Liss, Inc.

  16. Extracorporeal Membrane Oxygenation Cannula Malposition in the Azygos Vein in a Neonate with Right-Sided Congenital Diaphragmatic Hernia

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    Seung Jun Choi

    2016-05-01

    Full Text Available Malposition of the extracorporeal membrane oxygenation (ECMO venous cannula in the azygos vein is not frequently reported. We hereby present such a case, which occurred in a neonate with right-sided congenital diaphragmatic hernia. Despite ECMO application, neither adequate flow nor sufficient oxygenation was achieved. On the cross-table lateral chest radiograph, the cannula tip was identified posterior to the heart silhouette, which implied malposition of the cannula in the azygos vein. After repositioning the cannula, the target flow and oxygenation were successfully achieved. When sufficient venous flow is not achieved, as in our case, clinicians should be alerted so they can identify the cannula tip location on lateral chest radiograph and confirm whether malposition in the azygos vein is the cause of the ineffective ECMO.

  17. Ultrasound, Echocardiography, MRI, and Genetic Analysis of a Fetus with Congenital Diaphragmatic Hernia and Partial 11q Trisomy

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    Yolanda Fernández-Perea

    2017-01-01

    Full Text Available Congenital diaphragmatic hernia (CDH is a serious birth defect with a significant mortality and morbidity. The current and constant progress in ultrasound techniques has led to the improvement of the prenatal diagnosis of this malformation. CDH is a developmental defect whose etiology is heterogeneous and takes place when the pleuroperitoneal folds and septum transversum fail to converge and fuse. Survival depends on the extent of pulmonary hypoplasia and the disease may be potentially worsened by the presence of added congenital defects. 40% of CDH cases are associated with at least one additional anomaly. The ultrasound diagnosis is established with essential signs: loss of uniform echogenicity of lungs and marked mediastinal shift. We report the case of a fetus with isolated CDH diagnosed at 21 weeks of gestation by ultrasound and confirmed by RMI, whose genetic analysis of amniotic fluid cells identified a de novo partial trisomy of the long arm of chromosome 11. Different genetic causes have been associated with CDH. Moreover, it is expectable that the use of new techniques for prenatal diagnosis will reveal novel CNVs associated with CDH and will help us to estimate the recurrence risk for this defect as well as for other associated anomalies.

  18. Copy number detection in discordant monozygotic twins of Congenital Diaphragmatic Hernia (CDH) and Esophageal Atresia (EA) cohorts.

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    Veenma, Danielle; Brosens, Erwin; de Jong, Elisabeth; van de Ven, Cees; Meeussen, Connie; Cohen-Overbeek, Titia; Boter, Marjan; Eussen, Hubertus; Douben, Hannie; Tibboel, Dick; de Klein, Annelies

    2012-03-01

    The occurrence of phenotypic differences between monozygotic (MZ) twins is commonly attributed to environmental factors, assuming that MZ twins have a complete identical genetic make-up. Yet, recently several lines of evidence showed that both genetic and epigenetic factors could have a role in phenotypic discordance after all. A high occurrence of copy number variation (CNV) differences was observed within MZ twin pairs discordant for Parkinson's disease, thereby stressing on the importance of post-zygotic mutations as disease-predisposing events. In this study, the prevalence of discrepant CNVs was analyzed in discordant MZ twins of the Esophageal Atresia (EA) and Congenital Diaphragmatic Hernia (CDH) cohort in the Netherlands. Blood-derived DNA from 11 pairs (7 EA and 4 CDH) was screened using high-resolution SNP arrays. Results showed an identical copy number profile in each twin pair. Mosaic chromosome gain or losses could not be detected either with a detection threshold of 20%. Some of the germ-line structural events demonstrated in five out of eleven twin pairs could function as a susceptible genetic background. For example, the 177-Kb loss of chromosome 10q26 in CDH pair-3 harbors the TCF7L2 gene (Tcf4 protein), which is implicated in the regulation of muscle fiber type development and maturation. In conclusion, discrepant CNVs are not a common cause of twin discordancy in these investigated congenital anomaly cohorts.

  19. Chylothorax associated with a congenital peritoneopericardial diaphragmatic hernia in a dog.

    Science.gov (United States)

    Schmiedt, Chad Weber; Washabaugh, Kate F; Rao, Deepa B; Stepien, Rebecca L

    2009-01-01

    A 2-year-old dog was presented with a 3-month history of increasing respiratory effort and rate, inappetence, and lethargy. Chest radiographs demonstrated significant pleural effusion, which was consistent with chyle on biochemical and cytological evaluations. Further diagnostic evaluation, including a thoracic computed tomographic scan, revealed a peritoneopericardial diaphragmatic hernia (PPDH) resulting in a large, fat-attenuating mass within the pericardium. The dog was taken to surgery for repair of the PPDH, pericardectomy, and cisterna chyli ablation. Rapid and permanent resolution of the chylothorax occurred postoperatively. This is the first reported case of chylothorax secondary to PPDH.

  20. Hérnia Diafragmática Congênita: Relato de Caso/ Congenital Diaphragmatic Hernia: Case Report

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    Lucas Tavares dos Santos

    2013-03-01

    Full Text Available Introdução: A hérnia diafragmática congênita é a falha do fechamento embrionário do músculo diafragmático, resultando em um defeito de continuidade. Esta patologia pode ocorrer pela passagem de estruturas do abdome através de um defeito no diafragma, ou haver herniação parcial do estômago através do hiato esofágico, paralisia frênica com deslocamento do conteúdo abdominal para cima, mas sem herniação, e, eventração do diafragma. Casuística: Foi relatado um caso de hérnia diafragmática congênita, hérnia de Bochdalek, em um recém – nascido do sexo feminino, que nos ultra-sonografias da gestante apresentavam sem alterações. O diagnóstico da patologia foi feito apenas após a realização de raios-X de tórax e abdome para confirmar a posição do cateterismo umbilical venoso. Discussão/Conclusão: A apresentação clínica da hérnia de diafragmática congênita inclui desconforto respiratório moderado a grave com repercussão sistêmica. O diagnóstico, em cerca de 80% dos casos, é feito por ultrassom pré-natal. O tratamento proposto foi intubação endotraqueal com ventilação mecânica e programação para correção cirúrgica da hérnia. Após correção cirúrgica da patologia, a paciente permaneceu na unidade de terapia intensiva neonatal por 21 dias para acompanhamento de pós – operatório e intercorrências na evolução. Introduction: Congenital diaphragmatic hernia is the failure of embryonic closure of the diaphragm, resulting in a lack of continuity. This condition can occur by passing structures of the abdomen through a defect in the diaphragm, or be part herniation of the stomach through the esophageal hiatus, phrenic paralysis with displacement of abdominal contents up but no herniation, and eventration of the diaphragm. Case Report: We report a case congenital diaphragmatic hernia, such as Bochdalek hernia, in a new - born female that in ultrasounds of pregnant women showed without change

  1. Are all pulmonary hypoplasias the same? A comparison of pulmonary outcomes in neonates with congenital diaphragmatic hernia, omphalocele and congenital lung malformation.

    Science.gov (United States)

    Akinkuotu, Adesola C; Sheikh, Fariha; Cass, Darrell L; Zamora, Irving J; Lee, Timothy C; Cassady, Christopher I; Mehollin-Ray, Amy R; Williams, Jennifer L; Ruano, Rodrigo; Welty, Stephen E; Olutoye, Oluyinka O

    2015-01-01

    Patients with congenital diaphragmatic hernias (CDH), omphaloceles, and congenital lung malformations (CLM) may have pulmonary hypoplasia and experience respiratory insufficiency. We hypothesize that given equivalent lung volumes, the degree of respiratory insufficiency will be comparable regardless of the etiology. Records of all fetuses with CDH, omphalocele, and CLM between January 2000 and June 2013 were reviewed. MRI-based observed-to-expected total fetal lung volumes (O/E-TFLV) were calculated. An analysis of outcomes in patients with O/E-TFLV between 40% and 60%, the most inclusive range, was performed. 285 patients were evaluated (161, CDH; 24, omphalocele; 100, CLM). Fetuses with CDH had the smallest mean O/E-TFLV. CDH patients were intubated for longer and had a higher incidence of pulmonary hypertension. Fifty-six patients with the three diagnoses had an O/E-TFLV of 40%-60%. The need for ECMO, supplemental oxygen at 30days of life, and 6-month mortality were similar among groups. CDH patients had a significantly longer duration of intubation and higher incidence of pulmonary hypertension than the other two diagnoses. Given equivalent lung volumes (40%-60% of expected), CDH patients require more pulmonary support initially than omphalocele and CLM patients. In addition to lung volumes, disease-specific factors, such as pulmonary hypertension in CDH, also contribute to pulmonary morbidity and overall outcome. Copyright © 2015 Elsevier Inc. All rights reserved.

  2. Hernia diagfragmática congénita derecha en el Hospital Universitario de Santander Right congenital diaphragmatic hernia at the Hospital Universitario de Santander

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    Julio César Mantilla

    2010-08-01

    Full Text Available Introducción: La hernia diafragmática del lado derecho es una variable poco frecuente de los defectos congénitos diafragmáticos que permiten el paso del contenido abdominal a la cavidad torácica, causando graves trastornos en el desarrollo pulmonar fetal. Objetivo: Describir las características patológicas encontradas en la autopsia perinatal de un paciente con Hernia diafragmática congénita derecha en el Hospital Universitario de Santander. Caso clínico: Neonato de 35 semanas de gestación con diagnóstico prenatal de Hernia Diafragmática Congénita, quien fallece minutos después de su nacimiento debido a insuficiencia respiratoria aguda. En los hallazgos de autopsia se encuentra ausencia de la mayor parte del hemidiafragma derecho, herniación del contenido abdominal al tórax y una severa hipoplasia pulmonar. Conclusion: La Hernia diafragmática congénita del lado derecho se asocia con alta mortalidad neonatal y los hallazgos encontrados en el presente caso se correlacionan con los graves defectos estructurales pulmonares que se describen en otros casos reportados en la literatura. Salud UIS 2010; 42: 133-138Introduction: The congenital diaphragmatic hernia of the right side is the least common type of the congenital diaphragmatic defects which allows the passage of abdominal contents to the thoracic cavity, causing serious disorders on lung development. Objective: To describe the pathological features found in perinatal autopsy of a patient with Congenital Diaphragmatic Hernia of the right side at the Hospital Universitario de Santander. Case report: 35 weeks gestation neonate with prenatal diagnosis of congenital diaphragmatic hernia, who died due to acute respiratory failure. In the autopsy be found a severe pulmonary hypoplasia and in the microscopic examination, the pulmonary alveoli collapsed. Conclusion: The congenital diaphragmatic hernia of the right side is associated with high neonatal mortality and the findings in

  3. Descriptive Analysis of Right and Left-sided Traumatic Diaphragmatic Injuries; Case Series from a Single Institution

    Science.gov (United States)

    Al-Thani, Hassan; Jabbour, Gaby; El-Menyar, Ayman; Abdelrahman, Husham; Peralta, Ruben; Zarour, Ahmad

    2018-01-01

    Objective: To investigate the presentation, management and outcomes of left and right-sided traumatic diaphragmatic injury (TDI) in a single level I trauma center. Methods: This cross-sectional study was conducted during a 7-year period from 2008 to 2015 in a level I trauma center in Qatar. We included all the patients who presented with TDIs during the study period. Data included demographics, mechanism of injury, associated injuries, initial vitals, emergency department disposition, length of ICU and hospital stay, ventilator days, management, and outcomes. The variables were analyzed and compared for patients with left (LTDI) and right (RTDI). Results: A total of 52 TDI cases (79% LTDI and 21% RTDI) were identified with a mean age of 31±11. LTDI patients were more likely to have higher Injury severity scores (p=0.50) and greater AAST organ injury scoring (p=0.661 for all) than RTDI patients. Surgical repair was performed for 85% LTDI vs. 73% RTDI (p=0.342). Recurrent DIs was reported only in LTDI (5.1% vs. 0.0%; p=0.911). Twelve patients died (9 LTDI and 3 RTDI), of them 5 had associated head injury. Conclusion: This single-institution study confirms that LTDI are more commonly diagnosed than RTDI. Exploratory laparotomy is the most frequent procedure considered for the management of diaphragmatic injuries in the emergency settings. To improve outcomes in patients presenting with TDI, large prospective multicenter studies are needed to standardize the TDI management protocols including the diagnostic workup, timing of surgical intervention, and the most appropriate approach of treatment.  PMID:29379805

  4. Multiple congenital defects in a newborn foal

    Directory of Open Access Journals (Sweden)

    J.F. Silva

    2014-12-01

    Full Text Available A case of multiple congenital defects in a newborn foal is reported. The animal showed hypoplasia of the left pelvic limb bones, uterus unicornis, congenital diaphragmatic hernia, and unilateral renal and ureteral agenesis. This report includes the macroscopic and microscopic lesions observed in the case.

  5. Phospholipid profile of amniotic fluid in ovine model of congenital diaphragmatic hernia (CDH): the effect of fetal tracheal occlusion.

    Science.gov (United States)

    Mimmi, Maria Chiara; Ballico, Maurizio; Amoroso, Francesco; Calcaterra, Valeria; Marotta, Mario; Peiro, Jose Luis; Pelizzo, Gloria

    2015-03-06

    Fetal endoscopic tracheal occlusion has been proposed as a prenatal intervention to ameliorate congenital diaphragmatic hernia (CDH) prognosis. Tracheal occlusion (TO) prevents pulmonary fluid egress, leading to tissue expansion, reversal of lung hypoplasia, and potential maturation. Fetal lung maturity strongly correlates with amniotic fluid (AF) phospholipidic composition. In this preliminary study, we characterized the AF phospholipidic profile in CDH-induced, TO-treated, and healthy fetal lambs to define the prenatal treatment benefits of TO on lung maturity. CDH induction was performed at 70 days of gestation, TO was carried out at 102 days of gestation, and caesarean section was carried out at 136 days of gestation. AF samples, taken at 102-136 days of gestation, were evaluated using mass spectrometry. The analysis focused on phosphatidylcholines (PCs) and sphingomyelins (SMs). The most abundant phosphatidylcholine species retrieved in healthy AF was POPC [PC(18:1/16:0)], while the level of DPPC [PC(16:0/16:0)] was extremely low at both gestational ages. CDH induction caused a decrease in POPC and many other PCs. A substantial return of some PCs, in particular POPC, PC(34:2) and PC(18:0/16:0), to a more physiological level was prompted by TO. SMs were unaltered. The AF phospholipidic profile could provide prenatal prognostic markers of CDH and possible indices of lung maturation after fetal treatment.

  6. Standardized Postnatal Management of Infants with Congenital Diaphragmatic Hernia in Europe: The CDH EURO Consortium Consensus - 2015 Update.

    Science.gov (United States)

    Snoek, Kitty G; Reiss, Irwin K M; Greenough, Anne; Capolupo, Irma; Urlesberger, Berndt; Wessel, Lucas; Storme, Laurent; Deprest, Jan; Schaible, Thomas; van Heijst, Arno; Tibboel, Dick

    2016-01-01

    In 2010, the congenital diaphragmatic hernia (CDH) EURO Consortium published a standardized neonatal treatment protocol. Five years later, the number of participating centers has been raised from 13 to 22. In this article the relevant literature is updated, and consensus has been reached between the members of the CDH EURO Consortium. Key updated recommendations are: (1) planned delivery after a gestational age of 39 weeks in a high-volume tertiary center; (2) neuromuscular blocking agents to be avoided during initial treatment in the delivery room; (3) adapt treatment to reach a preductal saturation of between 80 and 95% and postductal saturation >70%; (4) target PaCO2 to be between 50 and 70 mm Hg; (5) conventional mechanical ventilation to be the optimal initial ventilation strategy, and (6) intravenous sildenafil to be considered in CDH patients with severe pulmonary hypertension. This article represents the current opinion of all consortium members in Europe for the optimal neonatal treatment of CDH. © 2016 The Author(s) Published by S. Karger AG, Basel.

  7. Nutritional outcomes in survivors of congenital diaphragmatic hernia (CDH)-factors associated with growth at one year.

    Science.gov (United States)

    Bairdain, Sigrid; Khan, Faraz A; Fisher, Jeremy; Zurakowski, David; Ariagno, Katelyn; Cauley, Ryan P; Zalieckas, Jill; Wilson, Jay M; Jaksic, Tom; Mehta, Nilesh M

    2015-01-01

    Malnutrition is prevalent among congenital diaphragmatic hernia (CDH) survivors. We aimed to describe the nutritional status and factors that impact growth over the 12-months following discharge from the pediatric intensive care unit (PICU) in this cohort. CDH survivors, who were discharged from the PICU from 2000 to 2010 with follow-up of at least 12months, were included. Nutritional intake, anthropometric, and clinical variables were recorded. Multivariable linear regression was used to determine factors associated with weight-for-age Z-scores (WAZ) at 12months. Data from 110 infants, 67% male, 50% patch repair, were analyzed. Median (IQR) WAZ for the cohort was -1.4 (-2.4 to -0.3) at PICU discharge and -0.4 (-1.3 to 0.2) at 12-months. The percentage of infants with significant malnutrition (WAZCDH survivors had a significantly improved nutritional status in the 12-months after PICU discharge. Patch repair, lower BW, and inadequate protein intake were significant predictors of lower WAZ at 12-months. A minimum protein intake in the PICU of 2.3g/kg/day was essential to ensure optimal growth in this cohort. Copyright © 2015 Elsevier Inc. All rights reserved.

  8. Pulmonary artery endothelial cell dysfunction and decreased populations of highly proliferative endothelial cells in experimental congenital diaphragmatic hernia

    Science.gov (United States)

    Seedorf, Gregory J.; Abman, Steven H.; Nozik-Grayck, Eva; Partrick, David A.; Gien, Jason

    2013-01-01

    Decreased lung vascular growth and pulmonary hypertension contribute to poor outcomes in congenital diaphragmatic hernia (CDH). Mechanisms that impair angiogenesis in CDH are poorly understood. We hypothesize that decreased vessel growth in CDH is caused by pulmonary artery endothelial cell (PAEC) dysfunction with loss of a highly proliferative population of PAECs (HP-PAEC). PAECs were harvested from near-term fetal sheep that underwent surgical disruption of the diaphragm at 60–70 days gestational age. Highly proliferative potential was measured via single cell assay. PAEC function was assessed by assays of growth and tube formation and response to known proangiogenic stimuli, vascular endothelial growth factor (VEGF), and nitric oxide (NO). Western blot analysis was used to measure content of angiogenic proteins, and superoxide production was assessed. By single cell assay, the proportion of HP-PAEC with growth of >1,000 cells was markedly reduced in the CDH PAEC, from 29% (controls) to 1% (CDH) (P CDH PAEC growth and tube formation were decreased by 31% (P = 0.012) and 54% (P CDH PAEC growth and tube formation. VEGF and VEGF-R2 proteins were increased in CDH PAEC; however, eNOS and extracellular superoxide dismutase proteins were decreased by 29 and 88%, respectively. We conclude that surgically induced CDH in fetal sheep causes endothelial dysfunction and marked reduction of the HP-PAEC population. We speculate that this CDH PAEC phenotype contributes to impaired vascular growth in CDH. PMID:24124189

  9. Long-term nutritional morbidity for congenital diaphragmatic hernia survivors: Failure to thrive extends well into childhood and adolescence.

    Science.gov (United States)

    Haliburton, Beth; Mouzaki, Marialena; Chiang, Monping; Scaini, Vikki; Marcon, Margaret; Moraes, Theo J; Chiu, Priscilla P

    2015-05-01

    Failure to thrive (FTT) is well documented among congenital diaphragmatic hernia (CDH) survivors ≤3years of age, but its etiology, severity, and persistence beyond this age require further elucidation. We conducted a single-center, retrospective study assessing anthropometrics, measured energy expenditure, and feeding tube (FT) use of 5-17 year olds in our multidisciplinary CDH clinic since January 2001. We stratified clinic visits based on age A: 5.0-6.9, B: 7.0-9.9, C: 10.0-14.9, and D: 15-17.9years. One hundred sixteen patients with 376 outpatient visits were reviewed. Anthropometric z-scores were below zero and did not vary across age cohorts. FTT and growth stunting each occurred in 14% of clinic visits. FTs inserted during infancy occurred in 25% of patients, and 60% remained by age 7years. In cohort A, those with FTs were lighter and shorter than those without (pFailure to thrive continues in long-term CDH survivors, FTs may not improve incidence of FTT. Increased energy expenditure may play a role. Copyright © 2015 Elsevier Inc. All rights reserved.

  10. Fetal Outcomes of Prenatally Diagnosed Congenital Diaphragmatic Hernia: Nine Years of Clinical Experience in a Canadian Tertiary Hospital.

    Science.gov (United States)

    Oh, Tracey; Chan, Stephanie; Kieffer, Stephanie; Delisle, Marie-France

    2016-01-01

    To summarize the clinical outcome of congenital diaphragmatic hernia (CDH) identified on prenatal ultrasound. We reviewed prenatally detected cases of CDH diagnosed between July 2000 and September 2009 at a single tertiary-care facility. Ninety-one cases were identified. Sixty-nine cases had complete medical records including karyotype. Of these, 40 were isolated defects and 29 cases had additional congenital or chromosome anomalies. An abnormal karyotype was present in 17.4% overall, affecting 2.5% of cases of isolated CDH (1/40) and 37.9% of cases of non-isolated CDH (11/29). The rate of termination of pregnancy in cases of isolated CDH diagnosed prior to 24 weeks was 33.3% (10/30), and in cases of non-isolated CDH it was 73.9% (17/23). The survival rate of the 44 liveborn infants was 66.7% (24/36) for those with isolated CDH and 37.5% (3/8) for those with non-isolated CDH. The decision to terminate the pregnancy was made in 73.9% of fetuses with prenatally diagnosed karyotype or additional anatomical abnormalities, in contrast to 37.5% of prenatally diagnosed isolated CDH. The outcomes of pregnancies that continue after identification of CDH are in keeping with previous reports, with an overall survival rate of 61.4%. The presence of additional anatomical anomalies was the only predictor of mortality among liveborn infants. Copyright © 2016 Society of Obstetricians and Gynaecologists of Canada. Published by Elsevier Inc. All rights reserved.

  11. Semi-automatic lung segmentation of DCE-MRI data sets of 2-year old children after congenital diaphragmatic hernia repair: Initial results.

    Science.gov (United States)

    Zöllner, Frank G; Daab, Markus; Weidner, Meike; Sommer, Verena; Zahn, Katrin; Schaible, Thomas; Weisser, Gerald; Schoenberg, Stefan O; Neff, K Wolfgang; Schad, Lothar R

    2015-12-01

    In congenital diaphragmatic hernia (CDH), lung hypoplasia and secondary pulmonary hypertension are the major causes of death and severe disability. Based on new therapeutic strategies survival rates could be improved to up to 80%. However, after surgical repair of CDH, long-term follow-up of these pediatric patients is necessary. In this, dynamic contrast enhanced magnetic resonance imaging (DCE-MRI) provides insights into the pulmonary microcirculation and might become a tool within the routine follow-up program of CDH patients. However, whole lung segmentation from DCE-MRI scans is tedious and automated procedures are warranted. Therefore, in this study, an approach to semi-automated lung segmentation is presented. Segmentation of the lung is obtained by calculating the cross correlation and the area under curve between all voxels in the data set and a reference region-of-interest (ROI), here the arterial input function (AIF). By applying an upper and lower threshold to the obtained maps and intersecting these, a final segmentation is reached. This approach was tested on twelve DCE-MRI data sets of 2-year old children after CDH repair. Segmentation accuracy was evaluated by comparing obtained automatic segmentations to manual delineations using the Dice overlap measure. Optimal thresholds for the cross correlation were 0.5/0.95 and 0.1/0.5 for the area under curve, respectively. The ipsilateral (left) lung showed reduced segmentation accuracy compared to the contralateral (right) lung. Average processing time was about 1.4s per data set. Average Dice score was 0.7±0.1 for the whole lung. In conclusion, initial results are promising. By our approach, whole lung segmentation is possible and a rapid evaluation of whole lung perfusion becomes possible. This might allow for a more detailed analysis of lung hypoplasia of children after CDH. Copyright © 2015 Elsevier Inc. All rights reserved.

  12. Imaging diagnosis--positive contrast peritoneographic features of true diaphragmatic hernia.

    Science.gov (United States)

    Choi, Jihye; Kim, Hyunwook; Kim, Mieun; Yoon, Junghee

    2009-01-01

    A true diaphragmatic hernia is a congenital diaphragmatic malformation that can appear identical to a peritoneopericardial diaphragmatic hernia (PPDH). True diaphragmatic hernias are rare in dogs. Herein we describe the use of positive contrast peritoneography for diagnosis of a true diaphragmatic hernia in two dogs.

  13. Congenital pleuroperitoneal hernia presenting as gastrothorax in five cavalier King Charles spaniel dogs.

    Science.gov (United States)

    Rossanese, M; Pivetta, M; Pereira, N; Burrow, R

    2018-04-30

    Five cavalier King Charles spaniels were examined for acute onset of respiratory distress. Thoracic radiographs demonstrated diaphragmatic hernia and tension gastrothorax, visible as a distended stomach occupying the left caudal thoracic cavity. Exploratory midline coeliotomy confirmed congenital pleuroperitoneal diaphragmatic hernia with herniation and dilatation of the stomach. The hernia configuration was consistent in all cases, with a defect affecting the left diaphragmatic crus. Congenital pleuroperitoneal diaphragmatic hernia is a rare condition caused by a defect in the dorsolateral diaphragm. Defects of the left crus of the diaphragm could result in the herniation of the stomach into the thoracic cavity with possible subsequent tension gastrothorax. Cavalier King Charles spaniels may have a predisposition to this condition. Tension gastrothorax is an acute life-threatening consequence of gastric herniation through a diaphragmatic defect that must be promptly recognised and surgically treated. © 2018 British Small Animal Veterinary Association.

  14. Simplified technique for minimally invasive repair of congenital diaphragmatic hernia using hollow-needle snare and transthoracic traction stitches.

    Science.gov (United States)

    Al-Jazaeri, Ayman

    2012-01-01

    Minimally invasive (MI) congenital diaphragmatic hernia (CDH) repair can be challenging. Placing rib-anchoring stitches without creating skin incisions and closing wider defects are some of the difficulties. In Bochdaleck hernia repair, maintaining visceral reduction and minimizing pneumothorax use are additional obstacles. We describe the use of hollow-needle snares (HNS) and transthoracic traction stitches (TTS) to overcome these challenges. Hollow-needle snares is assembled by passing a prolene stitch through a hollow needle creating a retractable snare, which is used to extract the placed anchoring stitches by passing it over the ribs but through the same stitch's skin entrance site. In Bochdaleck hernia, the early placement of TTS using HNS can facilitate visceral reduction, patch lay down, and tension-free closure of possible residual V-shaped defects. Between July 2009 and April 2011, we performed 10 consecutive MI CDH repairs for 9 patients, including 7 Bochdaleck and 3 Morgagni hernias. The median age was 8 days (range, 3-172 days), and the mean operative time was 148.5 ± 37.8 minutes for Bochdaleck hernia repairs. For Morgagni hernia, the median age was 18.3 months (range, 10.5-37 months), and the mean operative time was 100 ± 26.5 minutes. All cases were completed without conversion. One patient had a hernia recurrence and was repaired similarly, whereas the others had uneventful recovery at a median follow-up of 5.8 months (range, 1.1-23.7 months). Hollow-needle snare and TTS are simple and available tools that can facilitate MI repair of CDH. This initial experience demonstrates the technique's effectiveness and its excellent cosmetic outcomes. Copyright © 2012 Elsevier Inc. All rights reserved.

  15. Health-related quality of life in children and adolescents with congenital diaphragmatic hernia: a cross-sectional study.

    Science.gov (United States)

    Bojanić, Katarina; Grizelj, Ruža; Vuković, Jurica; Omerza, Lana; Grubić, Marina; Ćaleta, Tomislav; Weingarten, Toby N; Schroeder, Darrell R; Sprung, Juraj

    2018-03-14

    Patients with congenital diaphragmatic hernia (CDH) have a high residual morbidity rate. We compared self-reported health-related quality of life (HRQoL) between patients with CDH and healthy children. Forty-five patients with CDH who were born from January 1, 1990, through February 15, 2015, were matched to healthy, age-matched control participants at a 1:2 ratio. The health records of the study participants were reviewed to determine comorbid conditions, and HRQoL was assessed by both the participants and their parents with the Pediatric Quality of Life Inventory (PedsQL). The HRQoL scores of the patients with CDH and the control participants were compared by using analysis of variance to adjust for age group and sex. Among patients with CDH, analysis of variance was used to compare HRQoL scores across groups defined according to their characteristics at initial hospitalization, postdischarge events, and comorbid conditions. Compared with control participants, patients with CDH had lower mean PedsQL scores, as reported by the parent and child, for the physical and psychosocial domains (P CDH, low HRQoL was associated with chronic respiratory issues. Patients with CDH had lower HRQoL compared with healthy participants. Parent-reported HRQoL tended to be higher than child-reported HRQoL. Results were also inconsistent for the risk factors associated with HRQoL obtained by using child- and parent-reported scores. Therefore, when interpreting HRQoL in CDH survivors, a proxy report should not be considered a substitute for a child's self-report.

  16. Congenital diaphragmatic hernia (CDH) mortality without surgical repair? A plea to clarify surgical ineligibility.

    Science.gov (United States)

    Wilson, Marnie Goodwin; Beres, Alana; Baird, Robert; Laberge, Jean-Martin; Skarsgard, Erik D; Puligandla, Pramod S

    2013-05-01

    Little is known about liveborn CDH patients who die without surgery. We audited a national CDH cohort to determine whether these patients were different from patients who received CDH repair. A national CDH database was analyzed (2005-2009). After excluding infants with severe physiologic instability and genetic/congenital malformations, a potential surgical candidate (PSC) subgroup was identified. PSCs were compared to the operative group (OG) and the operative non-survivor (ONS) subgroup. Standard statistical analyses were performed. Of 275 liveborns, 35 (13%) died without surgery. The PSC subgroup (n=11) had a median survival of 10 days (range: 3-18). Ten of 11 PSC infants were treated in ECMO centers, with 4 receiving ECMO. No differences in BW, GA, and rates of minor malformation were observed between PSC and OG patients. While neonatal illness severity (SNAP-II) predicted overall mortality, SNAP-II scores were similar between PSC and ONS groups (34 vs. 29; p=0.431). Furthermore, greater than 80% of infants with SNAP-II scores between 30 and 39 survived in the OG cohort. Our analysis demonstrated that PSCs were similar to infants offered surgery based on illness severity and the presence of congenital malformations. We suggest that criteria for surgical ineligibility be developed to standardize the selection of surgical candidates. Copyright © 2013 Elsevier Inc. All rights reserved.

  17. Congenital Absence of Left Circumflex Artery Detected by Computed Tomography Coronary Angiography: A Case Report

    Directory of Open Access Journals (Sweden)

    Keerati Hongsakul

    2012-01-01

    Full Text Available The congenital absence of the left circumflex artery (LCx is a very rare congenital anomaly of coronary arteries, but it is benign. Currently, the best modality for the diagnosis of coronary anomalies is computed tomography coronary angiography (CTCA. We report a case of congenitally absent LCx with an atypical chest pain.

  18. CHARACTERISTICS OF CONGENITAL DIAPHRAGMATIC HERNIA AND ITS RELATIONSHIP TO PROGNOSIS WITH SPECIAL MENTION ON SHORT-TERM COMPLICATIONS- A RETROSPECTIVE STUDY FROM A NEUROSURGICAL PERSPECTIVE

    Directory of Open Access Journals (Sweden)

    Anand Prabhavathy Raghavan

    2017-10-01

    Full Text Available BACKGROUND CNS anomalies coexist in up to 10% of non-syndrome CDH cases. Hence, the diagnosis, treatment and prognosis of CHD is of interest to paediatric neurosurgeons. Congenital diaphragmatic hernia (hereby referred to as CDH is a relatively rare anomaly with a prevalence of 1 in 3000 livebirths. CDH present with varying characteristics (side, contents, presence of sac, morgagnian hernia, which in turn influence its outcome. Study details the characteristics of CDH, their impact on outcome, as well as shortterm complications of CDH in general. MATERIALS AND METHODS Retrospective study- Descriptive, based on case records. Study subjects were all inpatients admitted with CDH during the study period in Paediatric Surgery Department, SAT Hospital, Trivandrum. No definite sampling method has been adopted for the study. Consecutive cases of CDH have been recruited. Statistical analysis is done by Chi-square test, proportion and percentage analysis. Data were analysed using computer software, Statistical Package for Social Sciences (SPSS version 10. RESULTS Cases which contained stomach as a content (18/56 or 32.14% had a poor survival (8/18 or 44.44% and this result was found to be statistically significant (P value 0.033. Sac was seen in 15 (26.7% cases and the survival was poor in these cases (7/15 or 46.7%, P value 0.096. None of the cases had any CNS anomalies. Outcome was bad for right-sided hernias. Short-term complications other than postoperative death were few. CONCLUSION Presence of sac as well as stomach as a content of sac in CDH leads to poor survival. None of the cases had coexisting CNS anomalies, which may not be statistically significant. It may be due to the greater number of stillbirths in foetuses associated with CNS anomalies (which were not included in our study group during the given study period. Mortality of right-sided hernias exceeded that of left-sided defects, which is against the commonly held belief (our study is

  19. Feasibility and safety of intact cord resuscitation in newborn infants with congenital diaphragmatic hernia (CDH).

    Science.gov (United States)

    Lefebvre, Caroline; Rakza, Thameur; Weslinck, Nathalie; Vaast, Pascal; Houfflin-Debarge, Véronique; Mur, Sébastien; Storme, Laurent

    2017-11-01

    Starting resuscitation before clamping the umbilical cord at birth may progressively increase pulmonary blood flow while umbilical venous blood flow is still contributing to maintenance of oxygenation and left ventricle preload. To evaluate the feasibility, safety, and effects of intact cord resuscitation (ICR) on cardiorespiratory adaptation at birth in newborn infants with CDH. Prospective, observational, single-center pilot study. Physiologic variables and outcomes were collected prospectively in 40 consecutive newborn infants with an antenatal diagnosis of isolated CDH. Infants were managed with immediate cord clamping (ICC group) from 1/2012 to 5/2014 or the cord was clamped after initiation of resuscitation maneuvers (ICR group) from 6/2014 to 4/2016 (20 in each group). Ante- and postnatal markers of CDH severity were similar between groups. Resuscitation before cord clamping was possible for all infants in the ICR group. No increase in maternal or neonatal adverse events was observed during the period of ICR. The pH was higher and the plasma lactate concentration was significantly lower at one hour after birth in the ICR than in the ICC group (pH=7.17±0.1 vs 7.08±0.2; lactate=3.6±2.3 vs 6.6±4.3mmol/l, pCDH. The procedure may support the cardiorespiratory transition at birth in infants with CDH. Copyright © 2017 Elsevier B.V. All rights reserved.

  20. Comparison between the incidence of right and left sided congenital torticollis

    International Nuclear Information System (INIS)

    Aslam, S.; Bashir, M.S.; Hussain, S.I.

    2013-01-01

    Congenital torticollis is an intriguing condition of unknown origin, characterized by unilateral shortening and tightness of the sternocleidomastoid muscle. Patients usually present with head tilt, facial asymmetry and plagiocephaly. A sternomastoid mass or tumor may or may not be clinically apparent. Untreated, cervical function and facial cosmesis may be severely compromised. Objective: My study is aimed at establishing a comparison between the incidence of right versus left sided congenital torticollis. Method: This observational study included 30 patients of congenital torticollis that completed the questionnaire. The data was collected from patients coming to the Physiotherapy and Orthopedic departments of Children Hospital, Lahore. Results: Results showed that right side was involved in 19 (63.3%) patients and left side was involved in 11 (36.7%) patients. Out of 30 patients, 14 (46.7%) were male, of which 8 had right sided congenital torticollis and 6 had left sided congenital torticollis, and 16 (53.3%) were female, of which right sided congenital torticollis and 5 had left sided congenital torticollis. Conclusion: Hence it is concluded that incidence of right sided congenital torticollis is more common than left sided congenital torticollis. The incidence of con-genital torticollis is higher in females than in males. (author)

  1. Left-sided congenital heart lesions in mosaic Turner syndrome.

    Science.gov (United States)

    Bouayed Abdelmoula, Nouha; Abdelmoula, Balkiss; Smaoui, Walid; Trabelsi, Imen; Louati, Rim; Aloulou, Samir; Aloulou, Wafa; Abid, Fatma; Kammoun, Senda; Trigui, Khaled; Bedoui, Olfa; Denguir, Hichem; Mallek, Souad; Ben Aziza, Mustapha; Dammak, Jamila; Kaabi, Oldez; Abdellaoui, Nawel; Turki, Fatma; Kaabi, Asma; Kamoun, Wafa; Jabeur, Jihen; Ltaif, Wided; Chaker, Kays; Fourati, Haytham; M'rabet, Samir; Ben Ameur, Hedi; Gouia, Naourez; Mhiri, Mohamed Nabil; Rebai, Tarek

    2018-04-01

    In the era of the diseasomes and interactome networks, linking genetics with phenotypic traits in Turner syndrome should be studied thoroughly. As a part of this stratagem, mosaicism of both X and Y chromosome which is a common finding in TS and an evaluation of congenital heart diseases in the different situations of mosaic TS types, can be helpful in the identification of disturbed sex chromosomes, genes and signaling pathway actors. Here we report the case of a mosaic TS associated to four left-sided CHD, including BAV, COA, aortic aneurysms and dissections at an early age. The mosaicism included two cell lines, well-defined at the cytogenetic and molecular levels: a cell line which is monosomic for Xp and Xq genes (45,X) and another which is trisomic for pseudoautosomal genes that are present on the X and Y chromosomes and escape X inactivation: 45,X[8]/46,X,idic(Y)(pter→q11.2::q11.2→pter)[42]. This case generates two hypotheses about the contribution of genes linked to the sex chromosomes and the signaling pathways involving these genes, in left-sided heart diseases. The first hypothesis suggests the interaction between X chromosome and autosomal genes or loci of aortic development, possibly dose-dependent, and which could be in the framework of TGF-β-SMAD signaling pathways. The second implies that left-sided congenital heart lesions involve sex chromosomes loci. The reduced dosage of X chromosome gene(s), escaping X inactivation during development, contributes to this type of CHD. Regarding our case, these X chromosome genes may have homologues at the Y chromosome, but the process of inactivation of the centromeres of the isodicentric Y spreads to the concerned Y chromosome genes. Therefore, this case emerges as an invitation to consider the mosaics of Turner syndrome and to study their phenotypes in correlation with their genotypes to discover the underlying developmental and genetic mechanisms, especially the ones related to sex chromosomes.

  2. Diaphragmatic hernia repair - congenital

    Science.gov (United States)

    ... how well the lungs are working. A light sensor (called a pulse oximeter) is taped to baby's ... with their lungs after birth, may have lung disease after they leave the hospital. They may need ...

  3. Prenatal MR imaging of congenital diaphragmatic hernias: association of MR fetal lung volume with the need for postnatal prosthetic patch repair

    Energy Technology Data Exchange (ETDEWEB)

    Hagelstein, Claudia; Weidner, Meike; Schoenberg, Stefan O.; Buesing, Karen A.; Neff, K.W. [University of Heidelberg, Institute of Clinical Radiology and Nuclear Medicine, University Medical Center Mannheim, Mannheim (Germany); Zahn, Katrin [University of Heidelberg, Department of Pediatric Surgery, University Medical Center Mannheim, Mannheim (Germany); Weiss, Christel [University of Heidelberg, Department of Medical Statistics and Biomathematics, University Medical Center Mannheim, Mannheim (Germany); Schaible, Thomas [University of Heidelberg, Department of Pediatrics, University Medical Center Mannheim, Mannheim (Germany)

    2015-01-15

    To assess whether the need for postnatal prosthetic patch repair of the diaphragmatic defect in neonates with a congenital diaphragmatic hernia (CDH) is associated with the antenatal measured observed-to-expected magnetic resonance fetal lung volume (o/e MR-FLV). The o/e MR-FLV was calculated in 247 fetuses with isolated CDH. Logistic regression analysis was used to assess the prognostic value of the individual o/e MR-FLV for association with the need for postnatal patch repair. Seventy-seven percent (77 %) of patients with a CDH (190/247) required prosthetic patch repair and the defect was closed primarily in 23 % (57/247). Patients requiring a patch had a significantly lower o/e MR-FLV (27.7 ± 10.2 %) than patients with primary repair (40.8 ± 13.8 %, p < 0.001, AUC = 0.786). With an o/e MR-FLV of 20 %, 92 % of the patients required patch repair, compared to only 24 % with an o/e MR-FLV of 60 %. The need for a prosthetic patch was further influenced by the fetal liver position (herniation/no herniation) as determined by magnetic resonance imaging (MRI; p < 0.001). Fetal liver position, in addition to the o/e MR-FLV, improves prognostic accuracy (AUC = 0.827). Logistic regression analysis based on the o/e MR-FLV is useful for prenatal estimation of the prosthetic patch requirement in patients with a CDH. In addition to the o/e MR-FLV, the position of the liver as determined by fetal MRI helps improve prognostic accuracy. (orig.)

  4. The VICI-trial: high frequency oscillation versus conventional mechanical ventilation in newborns with congenital diaphragmatic hernia: an international multicentre randomized controlled trial.

    Science.gov (United States)

    van den Hout, Lieke; Tibboel, Dick; Vijfhuize, Sanne; te Beest, Harma; Hop, Wim; Reiss, Irwin

    2011-11-02

    Congenital diaphragmatic hernia (CDH) is a severe congenital anomaly of the diaphragm resulting in pulmonary hypoplasia and pulmonary hypertension. It is associated with a high risk of mortality and pulmonary morbidity. Previous retrospective studies have reported high frequency oscillatory ventilation (HFO) to reduce pulmonary morbidity in infants with CDH, while others indicated HFO to be associated with worse outcome. We therefore aimed to develop a randomized controlled trial to compare initial ventilatory treatment with high-frequency oscillation and conventional ventilation in infants with CDH. This trial is designed as a multicentre trial in which 400 infants (200 in each arm) will be included. Primary outcome measures are BPD, described as oxygen dependency by day 28 according to the definition of Jobe and Bancalari, and/or mortality by day 28. All liveborn infants with CDH born at a gestational age of over 34 weeks and no other severe congenital anomalies are eligible for inclusion. Parental informed consent is asked antenatally and the allocated ventilation mode starts within two hours after birth. Laboratory samples of blood, urine and tracheal aspirate are taken at the first day of life, day 3, day 7, day 14 and day 28 to evaluate laboratory markers for ventilator-induced lung injury and pulmonary hypertension. To date, randomized clinical trials are lacking in the field of CDH. The VICI-trial, as the first randomized clinical trial in the field of CDH, may provide further insight in ventilation strategies in CDH patient. This may hopefully prevent mortality and morbidity. Netherlands Trial Register (NTR): NTR1310.

  5. The VICI-trial: high frequency oscillation versus conventional mechanical ventilation in newborns with congenital diaphragmatic hernia: an international multicentre randomized controlled trial

    Directory of Open Access Journals (Sweden)

    van den Hout Lieke

    2011-11-01

    Full Text Available Abstract Background Congenital diaphragmatic hernia (CDH is a severe congenital anomaly of the diaphragm resulting in pulmonary hypoplasia and pulmonary hypertension. It is associated with a high risk of mortality and pulmonary morbidity. Previous retrospective studies have reported high frequency oscillatory ventilation (HFO to reduce pulmonary morbidity in infants with CDH, while others indicated HFO to be associated with worse outcome. We therefore aimed to develop a randomized controlled trial to compare initial ventilatory treatment with high-frequency oscillation and conventional ventilation in infants with CDH. Methods/design This trial is designed as a multicentre trial in which 400 infants (200 in each arm will be included. Primary outcome measures are BPD, described as oxygen dependency by day 28 according to the definition of Jobe and Bancalari, and/or mortality by day 28. All liveborn infants with CDH born at a gestational age of over 34 weeks and no other severe congenital anomalies are eligible for inclusion. Parental informed consent is asked antenatally and the allocated ventilation mode starts within two hours after birth. Laboratory samples of blood, urine and tracheal aspirate are taken at the first day of life, day 3, day 7, day 14 and day 28 to evaluate laboratory markers for ventilator-induced lung injury and pulmonary hypertension. Discussion To date, randomized clinical trials are lacking in the field of CDH. The VICI-trial, as the first randomized clinical trial in the field of CDH, may provide further insight in ventilation strategies in CDH patient. This may hopefully prevent mortality and morbidity. Trial registration Netherlands Trial Register (NTR: NTR1310

  6. Elevation of the diaphragmatic cupola

    International Nuclear Information System (INIS)

    Semenov, V.M.; Talesnik, M.R.

    1988-01-01

    Altogether 45 patients with elevation of the diaphragmatic cupola were examined. A high frequency of erroneous initial interpretation of examination results was noted in inflammatory and tumorous lesions and congenital conditions. Routine and contrast methods (pneumoperitoneum, bronchography, pleurography and fistulography) were used. Disease-related methods of X-ray investigation were proposed. A variety of causes of diaphragm elevation was indicated

  7. Oropharyngeal teratoma in association with a diaphragmatic hernia

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    Amal Al-Naimi

    2018-03-01

    Full Text Available Pediatric germ cell tumors (GCT rarely occur in the head and neck region and they are rarely associated with congenital anomalies. A 17 month old girl presented with a history of cough and change in voice for one month. Her chest x-ray and cross sectional imaging was suggestive of a mediastinal mass, right diaphragmatic hernia, and rib abnormality. Serologic and biomarkers were all negative for tumors. Surgical resection occurred with clear margins revealing a mass arising from the left hypopharnx via a pedunculated stalk. Histopathology was consistent with a mature teratoma including significant amounts of parathyroid tissue. She remains tumor free at 18 months follow up. To the best of our knowledge our patient is the third case in which a diaphragmatic hernia was reported in association with hypopharyngeal teratoma and our patient is the first to survive; this provides an opportunity to counsel families when this association is encountered.

  8. Reorganization of the Cerebro-Cerebellar Network of Language Production in Patients with Congenital Left-Hemispheric Brain Lesions

    Science.gov (United States)

    Lidzba, K.; Wilke, M.; Staudt, M.; Krageloh-Mann, I.; Grodd, W.

    2008-01-01

    Patients with congenital lesions of the left cerebral hemisphere may reorganize language functions into the right hemisphere. In these patients, language production is represented homotopically to the left-hemispheric language areas. We studied cerebellar activation in five patients with congenital lesions of the left cerebral hemisphere to assess…

  9. Changes in the Expression of Vascular Endothelial Growth Factor after Fetal Tracheal Occlusion in an Experimental Model of Congenital Diaphragmatic Hernia

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    E. Sanz-López

    2013-01-01

    Full Text Available Introduction. Vascular endothelial growth factor (VEGF, an angiogenic factor secreted by type II pneumocytes, could play a role in congenital diaphragmatic hernia (CDH pathogenesis. Animal studies suggest that VEGF accelerates lung growth. Aim. To quantify VEGF on fetal lungs in a nitrofen rat model for CDH and to analyze the effect of tracheal occlusion (TO in VEGF in fetal lung rats after nitrofen and in control rats not exposed to nitrofen. Methods. Pregnant rats received nitrofen on day 9.5 of gestation. Fetuses were divided into 2 groups: those that underwent TO on day 20 and those that did not. On day 21, fetuses were delivered, and the lungs were dissected for subsequent VEGF quantification. Results. CDH was detected in 43% of the fetuses that received nitrofen. Fetuses with CDH showed significantly reduced lung weight/fetal weight ratio and lower VEGF levels than the remainder. A higher VEGF value was observed after TO. Conclusions. VEGF protein was significantly lower in fetuses with CDH. TO induced a significant increase in VEGF compared to the fetuses that did not undergo TO. Although not statistically significant, we observed higher VEGF levels in fetuses with CDH and TO compared to fetuses with CDH and no further intervention.

  10. Fetal MR lung volumetry in congenital diaphragmatic hernia (CDH): prediction of clinical outcome and the need for extracorporeal membrane oxygenation (ECMO).

    Science.gov (United States)

    Kilian, A K; Büsing, K-A; Schuetz, E-M; Schaible, T; Neff, K W

    2009-09-01

    Despite the ultrasound (US) based lung-to-head ratio (LHR) and first results of fetal lung volume (FLV) determination in magnetic resonance imaging (MRI), there is no reliable prenatal parameter for the clinical course and outcome of fetuses with congenital diaphragmatic hernia (CDH), in particular for the need of extracorporeal membrane oxygenation (ECMO). MR FLV measurement was evaluated in 36 fetuses with CDH using T2-weighted half-Fourier acquisition single-shot turbo spin echo (HASTE) imaging. FLV and liver herniation, respectively, were correlated with survival and the need for ECMO therapy. A total of 18 healthy fetuses served as controls. MR FLV measurement was applied to predict survival and the need for neonatal ECMO therapy and to assess liver herniation as a prognostic parameter. On MRI there was a highly significant correlation of the FLV and patients' survival (p=0.0001) and ECMO requirement, respectively (p=0.0029). Compared to normal controls mean FLV in infants who died was 10% (9.4+/-5.8 ml) and 32% in surviving infants (25+/-9.7 ml). Liver herniation significantly decreased lung volume and negatively impacted clinical outcome (pCDH patients. MR FLV measurements are also valuable to identify patients who may benefit from ECMO therapy. Upward liver herniation is the most important additional prognostic parameter.

  11. Apparent truth about congenital diaphragmatic hernia: a population-based database is needed to establish benchmarking for clinical outcomes for CDH.

    Science.gov (United States)

    2004-05-01

    The authors hypothesize that recent single or multiinstitution-based reports of improved survival of congenital diaphragmatic hernia (CDH) patients are biased by patient selection, practice, and referral patterns. Here the authors report a population-based analysis of the clinical outcomes of CDH in the province of Ontario for 1996. A retrospective analysis of cross-sectional data from the Bureau of Vital Statistics of Ontario and all 5 pediatric surgical institutions in Ontario for 1996 was performed. Twenty-four CDH-associated deaths were registered in Canada in 1996. Fourteen of 24 occurred in Ontario (58.3%). Of 30 institutionally identified CDH in Ontario, 8 patients died (26.7%). CDH-associated infant mortality rate was 6.6 of 100,000 live births in Canada compared with 10 of 100,000 live births for Ontario (Relative risk, 1.4; confidence interval, 0.5, 3.7; P >.01). Neonatal death (CDH-associated deaths, however, were not accounted by the institutional-based reporting. In addition, institutional-based survival rates for CDH varied from 62.5% to 100%. Our results indicate the existing bias associated with institution-based reporting and database of CDH. The "hidden mortality" associated with CDH is still present. A population-based database is needed to establish the benchmarking for management of CDH.

  12. Delayed Presentation of Right-Sided Congenital Diaphargmatic ...

    African Journals Online (AJOL)

    Congenital diaphragmatic hernia (CDH) commonly occurs on the left and the patients usually present during neonatal period with respiratory distress. Rarely, the condition may occur on the right and the presentation may be delayed. This is a report of a patient with a right sided CDH who presented at three months but the ...

  13. Late-presenting right congenital diaphragmatic hernia with severe hypotrophy of the right lobe of the liver

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    E.A. De Marco

    2015-01-01

    Conclusions: Evidence of this phenomenon represents an absolute novelty in the extant scientific literature. Even if rare, we suggest to suspect the presence of CDH in fetus with disparity in right and left liver lobe at prenatal ultrasound.

  14. High temporal versus high spatial resolution in MR quantitative pulmonary perfusion imaging of two-year old children after congenital diaphragmatic hernia repair

    International Nuclear Information System (INIS)

    Weidner, M.; Hagelstein, C.; Schoenberg, S.O.; Neff, K.W.; Zoellner, F.G.; Schad, L.R.; Zahn, K.; Schaible, T.

    2014-01-01

    Congenital diaphragmatic hernia (CDH) leads to lung hypoplasia. Using dynamic contrast-enhanced (DCE) MR imaging, lung perfusion can be quantified. As MR perfusion values depend on temporal resolution, we compared two protocols to investigate whether ipsilateral lung perfusion is impaired after CDH, whether there are protocol-dependent differences, and which protocol is preferred. DCE-MRI was performed in 36 2-year old children after CDH on a 3 T MRI system; protocol A (n = 18) based on a high spatial (3.0 s; voxel: 1.25 mm 3 ) and protocol B (n = 18) on a high temporal resolution (1.5 s; voxel: 2 mm 3 ). Pulmonary blood flow (PBF), pulmonary blood volume (PBV), mean transit time (MTT), and peak-contrast-to-noise-ratio (PCNR) were quantified. PBF was reduced ipsilaterally, with ipsilateral PBF of 45 ± 26 ml/100 ml/min to contralateral PBF of 63 ± 28 ml/100 ml/min (p = 0.0016) for protocol A; and for protocol B, side differences were equivalent (ipsilateral PBF = 62 ± 24 vs. contralateral PBF = 85 ± 30 ml/100 ml/min; p = 0.0034). PCNR was higher for protocol B (30 ± 18 vs. 20 ± 9; p = 0.0294). Protocol B showed higher values of PBF in comparison to protocol A (p always <0.05). Ipsilateral lung perfusion is reduced in 2-year old children following CDH repair. Higher temporal resolution and increased voxel size show a gain in PCNR and lead to higher perfusion values. Protocol B is therefore preferred. (orig.)

  15. High temporal versus high spatial resolution in MR quantitative pulmonary perfusion imaging of two-year old children after congenital diaphragmatic hernia repair

    Energy Technology Data Exchange (ETDEWEB)

    Weidner, M.; Hagelstein, C.; Schoenberg, S.O.; Neff, K.W. [University Medical Center Mannheim, Medical Faculty Mannheim, Heidelberg University, Institute of Clinical Radiology and Nuclear Medicine, Mannheim (Germany); Zoellner, F.G.; Schad, L.R. [Heidelberg University, Computer Assisted Clinical Medicine, Medical Faculty Mannheim, Mannheim (Germany); Zahn, K. [University Medical Center Mannheim, Medical Faculty Mannheim, University of Heidelberg, Department of Pediatric Surgery, Mannheim (Germany); Schaible, T. [University Medical Center Mannheim, Medical Faculty Mannheim, Heidelberg University, Department of Pediatrics, Mannheim (Germany)

    2014-10-15

    Congenital diaphragmatic hernia (CDH) leads to lung hypoplasia. Using dynamic contrast-enhanced (DCE) MR imaging, lung perfusion can be quantified. As MR perfusion values depend on temporal resolution, we compared two protocols to investigate whether ipsilateral lung perfusion is impaired after CDH, whether there are protocol-dependent differences, and which protocol is preferred. DCE-MRI was performed in 36 2-year old children after CDH on a 3 T MRI system; protocol A (n = 18) based on a high spatial (3.0 s; voxel: 1.25 mm{sup 3}) and protocol B (n = 18) on a high temporal resolution (1.5 s; voxel: 2 mm{sup 3}). Pulmonary blood flow (PBF), pulmonary blood volume (PBV), mean transit time (MTT), and peak-contrast-to-noise-ratio (PCNR) were quantified. PBF was reduced ipsilaterally, with ipsilateral PBF of 45 ± 26 ml/100 ml/min to contralateral PBF of 63 ± 28 ml/100 ml/min (p = 0.0016) for protocol A; and for protocol B, side differences were equivalent (ipsilateral PBF = 62 ± 24 vs. contralateral PBF = 85 ± 30 ml/100 ml/min; p = 0.0034). PCNR was higher for protocol B (30 ± 18 vs. 20 ± 9; p = 0.0294). Protocol B showed higher values of PBF in comparison to protocol A (p always <0.05). Ipsilateral lung perfusion is reduced in 2-year old children following CDH repair. Higher temporal resolution and increased voxel size show a gain in PCNR and lead to higher perfusion values. Protocol B is therefore preferred. (orig.)

  16. Antenatal Maternally-Administered Phosphodiesterase Type 5 Inhibitors Normalize eNOS Expression in the Fetal Lamb Model of Congenital Diaphragmatic Hernia

    Science.gov (United States)

    Shue, Eveline H; Schecter, Samuel C.; Gong, Wenhui; Etemadi, Mozziyar; Johengen, Michael; Iqbal, Corey; Derderian, S. Christopher; Oishi, Peter; Fineman, Jeffrey R.; Miniati, Doug

    2013-01-01

    Purpose Pulmonary hypertension (pHTN), a main determinant of survival in congenital diaphragmatic hernia (CDH), results from in utero vascular remodeling. Phosphodiesterase type 5 (PDE5) inhibitors have never been used antenatally to treat pHTN. The purpose of this study is to determine if antenatal PDE5 inhibitors can prevent pHTN in the fetal lamb model of CDH. Methods CDH were created in pregnant ewes. Postoperatively, pregnant ewes received oral placebo or tadalafil, a PDE5 inhibitor, until delivery. Near term gestation, lambs underwent resuscitations, and lung tissue was snap frozen for protein analysis. Results Mean cGMP levels were 0.53±0.11 in placebo-treated fetal lambs and 1.73±0.21 in tadalafil-treated fetal lambs (p=0.002). Normalized expression of eNOS was 82±12% in Normal-Placebo, 61±5% in CDH-Placebo, 116±6% in Normal-Tadalafil, and 86±8% in CDH-Tadalafil lambs. Normalized expression of β-sGC was 105±15% in Normal-Placebo, 82±3% in CDH-Placebo, 158±16% in Normal-Tadalafil, and 86±8% in CDH-Tadalafil lambs. Endothelial NOS and β-sGC were significantly decreased in CDH (p = 0.0007 and 0.01 for eNOS and β-sGC, respectively), and tadalafil significantly increased eNOS expression (p = 0.0002). Conclusions PDE5 inhibitors can cross the placental barrier. β-sGC and eNOS are downregulated in fetal lambs with CDH. Antenatal PDE5 inhibitors normalize eNOS and may prevent in utero vascular remodeling in CDH. PMID:24439578

  17. Prenatal microRNA miR-200b Therapy Improves Nitrofen-induced Pulmonary Hypoplasia Associated With Congenital Diaphragmatic Hernia.

    Science.gov (United States)

    Khoshgoo, Naghmeh; Kholdebarin, Ramin; Pereira-Terra, Patricia; Mahood, Thomas H; Falk, Landon; Day, Chelsea A; Iwasiow, Barbara M; Zhu, Fuqin; Mulhall, Drew; Fraser, Carly; Correia-Pinto, Jorge; Keijzer, Richard

    2017-11-13

    We aimed to evaluate the use of miR-200b as a prenatal transplacental therapy in the nitrofen rat model of abnormal lung development and congenital diaphragmatic hernia (CDH). Pulmonary hypoplasia (PH) and pulmonary hypertension determine mortality and morbidity in CDH babies. There is no safe medical prenatal treatment available. We previously discovered that higher miR-200b is associated with better survival in CDH babies. Here, we investigate the role of miR-200b in the nitrofen rat model of PH and CDH and evaluate its use as an in vivo prenatal therapy. We profiled miR-200b expression during nitrofen-induced PH using RT-qPCR and in situ hybridization in the nitrofen rat model of PH and CDH. The effects of nitrofen on downstream miR-200b targets were studied in bronchial lung epithelial cells using a SMAD luciferase assay, Western blotting and Immunohistochemistry. We evaluated miR-200b as a lung growth promoting therapy ex vivo and in vivo using lung explant culture and transplacental prenatal therapy in the nitrofen rat model. We show that late lung hypoplasia in CDH is associated with (compensatory) upregulation of miR-200b in less hypoplastic lungs. Increasing miR-200b abundance with mimics early after nitrofen treatment decreases SMAD-driven TGF-β signaling and rescues lung hypoplasia both in vitro and in vivo. Also, prenatal miR-200b therapy decreases the observed incidence of CDH. Our data indicate that miR-200b improves PH and decreases the incidence of CDH. Future studies will further exploit this newly discovered prenatal therapy for lung hypoplasia and CDH.

  18. Posterolateral diaphragmatic hernia with small-bowel incarceration ...

    African Journals Online (AJOL)

    Bochdalek hernia (BH), a closing defect of the peripheral posterior aspect of the diaphragm, is the most common of the congenital diaphragmatic hernias and is usually diagnosed in neonates. Symptomatic presentation of a right-sided diaphragmatic hernia in an adult is unusual. Owing to their rarity and varied presentation, ...

  19. Laparoscopic repair of Morgagni diaphragmatic hernia in infants ...

    African Journals Online (AJOL)

    Congenital retrosternal diaphragmatic hernia is rare in children. Morgagni hernias account for 1–6% of all surgically corrected diaphragmatic hernias [1,2]. Numer- ous approaches ... abdominal wall through the middle of the posterior edge of the defect using a .... Chest infection with Down's syndrome. Chest radiograph. 50.

  20. Efficacy of lung volume optimization maneuver monitored by optoelectronic pletismography in the management of congenital diaphragmatic hernia

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    G. Lista

    2017-01-01

    We report a case of left CDH with severe lung hypoplasia, managed applying open lung strategy in HFOV (pre-surgery period and in Assist-Control with Volume Guarantee (post-surgery period, guided by SpO2 changes, TcPO2 and TcPCO2 monitoring. Opto-electronic plethysmography was used to measure end-expiratory chest wall volume changes (ΔEEcw related to lung volume variations occurring during pressure changes. OEP confirmed the efficacy of using SpO2 and transcutaneous gas monitoring during this recruitment maneuver.

  1. Early left-hemispheric dysfunction of face processing in congenital prosopagnosia: an MEG study.

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    Christian Dobel

    Full Text Available BACKGROUND: Congenital prosopagnosia is a severe face perception impairment which is not acquired by a brain lesion and is presumably present from birth. It manifests mostly by an inability to recognise familiar persons. Electrophysiological research has demonstrated the relevance to face processing of a negative deflection peaking around 170 ms, labelled accordingly as N170 in the electroencephalogram (EEG and M170 in magnetoencephalography (MEG. The M170 was shown to be sensitive to the inversion of faces and to familiarity--two factors that are assumed to be crucial for congenital prosopagnosia. In order to locate the cognitive dysfunction and its neural correlates, we investigated the time course of neural activity in response to these manipulations. METHODOLOGY: Seven individuals with congenital prosopagnosia and seven matched controls participated in the experiment. To explore brain activity with high accuracy in time, we recorded evoked magnetic fields (275 channel whole head MEG while participants were looking at faces differing in familiarity (famous vs. unknown and orientation (upright vs. inverted. The underlying neural sources were estimated by means of the least square minimum-norm-estimation (L2-MNE approach. PRINCIPAL FINDINGS: The behavioural data corroborate earlier findings on impaired configural processing in congenital prosopagnosia. For the M170, the overall results replicated earlier findings, with larger occipito-temporal brain responses to inverted than upright faces, and more right- than left-hemispheric activity. Compared to controls, participants with congenital prosopagnosia displayed a general decrease in brain activity, primarily over left occipitotemporal areas. This attenuation did not interact with familiarity or orientation. CONCLUSIONS: The study substantiates the finding of an early involvement of the left hemisphere in symptoms of prosopagnosia. This might be related to an efficient and overused featural

  2. Prenatal diagnosis and perinatal outcome of 38 cases with congenital diaphragmatic hernia: 8-year experience of a tertiary Brazilian center Diagnóstico pré-natal e evolução perinatal de 38 casos de hérnia diafragmática congênita: 8 anos de experiência de um serviço terciário brasileiro

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    Rodrigo Ruano

    2006-06-01

    Full Text Available PURPOSE: To evaluate the perinatal results for neonates with congenital diaphragmatic hernia diagnosed prenatally. METHOD: We reviewed data from 38 cases of congenital diaphragmatic hernia diagnosed prenatally from January 1995 to December 2003 in the Fetal Medicine Unit of the Department of Obstetrics and Gynecology, São Paulo University Medical School. The main data analyzed were gestational age at diagnosis, fetal karyotyping, side of diaphragmatic defect, presence of associated structural malformations, hepatic herniation, and severe mediastinal shift. Perinatal outcomes were obtained by reviewing hospital documents or by directly calling the patients' immediate relatives. RESULTS: Mean gestational age at diagnosis was 29 weeks (range, 16-37 weeks.Thirty (79% cases had a left diaphragmatic defect and 8 (21% had a right lesion. Associated structural malformations were observed in 21 (55% cases, in which 12 fetuses had a normal karyotype and 9 had chromosomal abnormalities. Isolated congenital diaphragmatic hernia was confirmed in 17 (45% cases. The overall perinatal mortality rate was 92%. Rates of fetal deaths, early neonatal deaths, late neonatal deaths, and survival were 42%, 50%, 0%, and 8%, respectively, in cases with associated structural malformations but normal karyotyping; 56%, 44%, 0%, and 0% for cases with chromosomal abnormalities; and, 0%, 76%, 12%, and 12% in cases with isolated congenital diaphragmatic hernia. The neonatal mortality rate was 89% in cases with isolated congenital diaphragmatic hernia. CONCLUSION: Perinatal mortality was very high in prenatally diagnosed cases of congenital diaphragmatic hernia. Earlier perinatal deaths are associated with the presence of other structural defects or chromosomal abnormalities. In cases of isolated congenital diaphragmatic hernia, mortality is related to the presence of herniated liver, right-sided lesion, and major mediastinal shift.OBJETIVO: Avaliar os resultados neonatais dos

  3. Roentgen diagnosis in diaphragmatic trauma

    International Nuclear Information System (INIS)

    Reinbold, W.D.; Dinkel, E.; Kroepelin, T.; Kirchner, R.

    1987-01-01

    The diagnostic value of roentgenology in 85 patients who had to undergo surgery because of diaphragmatic rupture at the university of Freiburg from 1973 to 1985 is reviewed. The ratio of left- to right-sided diaphragmatic rupture is 62 to 23. Preoperatively the following diagnostic procedures are used: Chest film examination in 82, plain film of the abdomen 64, contrast radiographs of the gastrointestinal tract in 21, ultrasonography in 37, computed tomography in 8 and angiography in 9 patients. Sensitivity and specifity of these diagnostic methods depend on an intrathoracic prolaps of abdominal structures and on the existence of concomitant injuries. The combination of all these procedures improves the diagnostic accuracy. In 11 patients a diaphragmatic rupture is only detected by surgery. (orig.) [de

  4. Functional residual capacity (FRC) and lung clearance index (LCI) in mechanically ventilated infants: application in the newborn with congenital diaphragmatic hernia (CDH).

    Science.gov (United States)

    Landolfo, Francesca; Savignoni, Ferdinando; Capolupo, Irma; Columbo, Claudia; Calzolari, Flaminia; Giliberti, Paola; Chukhlantseva, Natalia; Bagolan, Pietro; Dotta, Andrea

    2013-07-01

    Functional residual capacity (FRC) and lung clearance index (LCI) are sensitive parameters for early detection of airway disease in infancy. The closed helium dilution method has been applied to assess lung volume and ventilation inhomogeneity (VI) in spontaneously breathing infants. The aims of this study were as follows: (1) to assess applicability of the helium gas dilution technique in mechanically ventilated infants with high-risk congenital diaphragmatic hernia (CDH) and to evaluate changes in breathing patterns, lung volume, and VI during the first days of life before and after surgery, and (2) to analyze the possible correlation between changes in lung volume, cerebral hemodynamics, and oxygenation before and after surgical correction of CDH through near-infrared spectroscopy (NIRS) monitoring. Lung function tests were performed by multibreath washout traces with an ultrasonic flowmeter and helium gas dilution technique. For all babies, three acceptable FRC and LCI measurements were collected for each test (mean and SD of three measurements were calculated) before surgery (T0), 24 h after surgery (T1) during mechanical ventilation, and within 24 h after extubation in spontaneous breathing (T2). Cerebral and splanchnic hemodynamics were continuously monitored by NIRS during mechanical ventilation to evaluate relationships between changes in lung volume and capillary-venous oxyhemoglobin saturation in tissues. Fraction of inspired oxygen delivered was adjusted to keep oxygen saturation between 90% and 95%. Thirteen CDH infants were studied; median GA = 38 weeks (range 35-41) and median BW = 3000 g (range 1850-3670). FRC and LCI significantly improved after extubation when compared with pre-surgical values. No differences were found in tidal volume (Vt) and NIRS monitoring before and after surgery and after extubation. Neither LCI nor FRC was correlated with NIRS values. Helium gas dilution technique is an applicable and reliable technique to measure lung

  5. Risk factors for the recurrence of the congenital diaphragmatic hernia-report from the long-term follow-up study of Japanese CDH study group.

    Science.gov (United States)

    Nagata, Kouji; Usui, Noriaki; Terui, Keita; Takayasu, Hajime; Goishi, Keiji; Hayakawa, Masahiro; Tazuke, Yuko; Yokoi, Akiko; Okuyama, Hiroomi; Taguchi, Tomoaki

    2015-02-01

    Few follow-up studies focused on the recurrence regarding the postoperative course of congenital diaphragmatic hernia (CDH) survivors. The aim of this study was to report on risk factor for CDH patients who had the recurrence during the follow-up. A multicenter retrospective survey was conducted on neonates diagnosed to have CDH between January 2006 and December 2010. Follow-up survey was conducted between September 2013 and October 2013 (ethical approval: No. 25-222). Nine institutions agreed to participate in this survey. Out of 228, 182 (79.8%) patients were alive and 180 patients were included in this study. Two patients were excluded because the defect had not repaired at the primary operation. The patients were divided into the recurrence group (n=21) and the nonrecurrence group (n=159). Postnatal and postoperative variables were compared between these two groups. Baseline variables which showed significance in univariate analysis were entered into multiple logistic regression analysis for analyzing the recurrence. A value of pCDH neonates had the recurrence during the course of the follow-up. Five (2.8%) patients had the recurrence before primary discharge and 16 (8.9%) patients had the recurrence after discharge. Univariate analysis showed that liver herniation (crude odds ratio [OR], 7.4; 95% confidence interval [CI], 2.73-23.68), defect size C and D, proposed by the CDH Study Group (crude OR, 7.09; 95% CI, 2.73-19.99) and patch repair (crude OR, 5.00; 95% CI, 1.91-14.70) were risk factors. Multivariate logistic regression analysis showed liver herniation (adjusted OR, 3.96; 95% CI, 1.01-16.92) was the risk factor for the recurrence. A wide spectrum of the disease severity and the rarity of the disease mask the risk of the recurrence for CDH patients. This study showed the only factor to predict the recurrence was the liver herniation. These data will be helpful for providing information for the long-term follow-up of the CDH patients. Georg Thieme Verlag

  6. Unusual congenital pulmonary anomaly with presumed left lung hypoplasia in a young dog.

    Science.gov (United States)

    Lee, C M; Kim, J H; Kang, M H; Eom, K D; Park, H M

    2014-05-01

    A seven-month-old, entire, male miniature schnauzer dog was referred with acute vomiting, inappetence and depression primarily as a result of a gastric foreign body (pine cones). During investigations, thoracic radiographs revealed increased volume of the right lung lobes, deviated cardiomediastinal structures and elevation of the heart from the sternum. Thoracic computed tomography revealed left cranial lung lobe hypoplasia and extension of the right cranial lung parenchyma across the midline to the left hemithorax. Branches of the right pulmonary vessels and bronchi also crossed the midline and extended to the left caudal lung lobe. These findings suggested that the right and left lungs were fused. In humans this finding is consistent with horseshoe lung, which is an uncommon congenital malformation. To the authors' knowledge, this case represents the first report of such a pulmonary anomaly in a dog. © 2014 British Small Animal Veterinary Association.

  7. Two congenital coronary abnormalities affecting heart function: anomalous origin of the left coronary artery from the pulmonary artery and congenital left main coronary artery atresia.

    Science.gov (United States)

    Xiao, Yanyan; Jin, Mei; Han, Ling; Ding, Wenhong; Zheng, Jianyong; Sun, Chufan; Lyu, Zhenyu

    2014-01-01

    The anomalous origin of the left coronary artery (LCA) from the pulmonary artery (ALCAPA) and congenital left main coronary artery atresia (CLMCA-A) are two kinds of very rare coronary heart diseases which affect heart function profoundly. This study aimed to retrospectively illustrate the clinical features and therapy experience of ALCAPA and CLMCA-A patients. From April 1984 to July 2012, in Beijing Anzhen Hospital, 23 patients were diagnosed with ALCAPA and 4 patients with CLMCA-A. We summarized the clinical data of the 27 cases and retrospectively analyzed the clinical manifestation, diagnosis, and treatments of these two kinds of congenital coronary abnormalities. The 23 patients (13 males and 10 females, aged ranging from 2.5 months to 65 years) identified with ALCAPA were classified into infantile type (age of onset younger than 12 months, 16 cases) and adult type (age of onset older than 12 months, 7 cases). Four patients were diagnosed with CLMCA-A (three males and one female, aged ranging from 3 months to 2 years). The main clinical manifestations of infantile-type ALCAPA and CLMCA-A include repeated respiratory tract infection, heart failure, dyspnea, feeding intolerance, diaphoresis, and failure to thrive. And these two congenital coronary abnormalities might be misdiagnosed as endocardial fibroelastosis, dilated cardiomyopathy, and acute myocardial infarction. As for the adult-type ALCAPA, cardiac murmurs and discomfort of the precordial area are the most common presentations and might be misdiagnosed as coronary heart disease, myocarditis, or patent ductus arteriosus. In ECG examination: Infantile-type ALCAPA and CLMCA-A showed abnormal Q waves with T wave inversion in leads I, avL, and V4-V6, especially in lead avL. However, ECG of adult-type ALCAPA lacked distinct features. In chest radiography: pulmonary congestion and cardiomegaly were the most common findings in infantile-type ALCAPA and CLMCA-A, while pulmonary artery segment dilation was more

  8. A growing animal model for neonatal repair of large diaphragmatic defects to evaluate patch function and outcome

    Science.gov (United States)

    Joyeux, Luc; Pranpanus, Savitree; Van der Merwe, Johannes; Verbeken, Eric; De Vleeschauwer, Stephanie; Gayan-Ramirez, Ghislaine; Deprest, Jan

    2017-01-01

    Objectives We aimed to develop a more representative model for neonatal congenital diaphragmatic hernia repair in a large animal model, by creating a large defect in a fast-growing pup, using functional pulmonary and diaphragmatic read outs. Background Grafts are increasingly used to repair congenital diaphragmatic hernia with the risk of local complications. Growing animal models have been used to test novel materials. Methods 6-week-old rabbits underwent fiberoptic intubation, left subcostal laparotomy and hemi-diaphragmatic excision (either nearly complete (n = 13) or 3*3cm (n = 9)) and primary closure (Gore-Tex patch). Survival was further increased by moving to laryngeal mask airway ventilation (n = 15). Sham operated animals were used as controls (n = 6). Survivors (90 days) underwent chest X-Ray (scoliosis), measurements of maximum transdiaphragmatic pressure and breathing pattern (tidal volume, Pdi). Rates of herniation, lung histology and right hemi-diaphragmatic fiber cross-sectional area was measured. Results Rabbits surviving 90 days doubled their weight. Only one (8%) with a complete defect survived to 90 days. In the 3*3cm defect group all survived to 48 hours, however seven (78%) died later (16–49 days) from respiratory failure secondary to tracheal stricture formation. Use of a laryngeal mask airway doubled 90-day survival, one pup displaying herniation (17%). Cobb angel measurements, breathing pattern, and lung histology were comparable to sham. Under exertion, sham animals increased their maximum transdiaphragmatic pressure 134% compared to a 71% increase in patched animals (p<0.05). Patched animals had a compensatory increase in their right hemi-diaphragmatic fiber cross-sectional area (p<0.0001). Conclusions A primarily patched 3*3cm defect in growing rabbits, under laryngeal mask airway ventilation, enables adequate survival with normal lung function and reduced maximum transdiaphragmatic pressure compared to controls. PMID:28358826

  9. A growing animal model for neonatal repair of large diaphragmatic defects to evaluate patch function and outcome.

    Directory of Open Access Journals (Sweden)

    Mary Patrice Eastwood

    Full Text Available We aimed to develop a more representative model for neonatal congenital diaphragmatic hernia repair in a large animal model, by creating a large defect in a fast-growing pup, using functional pulmonary and diaphragmatic read outs.Grafts are increasingly used to repair congenital diaphragmatic hernia with the risk of local complications. Growing animal models have been used to test novel materials.6-week-old rabbits underwent fiberoptic intubation, left subcostal laparotomy and hemi-diaphragmatic excision (either nearly complete (n = 13 or 3*3cm (n = 9 and primary closure (Gore-Tex patch. Survival was further increased by moving to laryngeal mask airway ventilation (n = 15. Sham operated animals were used as controls (n = 6. Survivors (90 days underwent chest X-Ray (scoliosis, measurements of maximum transdiaphragmatic pressure and breathing pattern (tidal volume, Pdi. Rates of herniation, lung histology and right hemi-diaphragmatic fiber cross-sectional area was measured.Rabbits surviving 90 days doubled their weight. Only one (8% with a complete defect survived to 90 days. In the 3*3cm defect group all survived to 48 hours, however seven (78% died later (16-49 days from respiratory failure secondary to tracheal stricture formation. Use of a laryngeal mask airway doubled 90-day survival, one pup displaying herniation (17%. Cobb angel measurements, breathing pattern, and lung histology were comparable to sham. Under exertion, sham animals increased their maximum transdiaphragmatic pressure 134% compared to a 71% increase in patched animals (p<0.05. Patched animals had a compensatory increase in their right hemi-diaphragmatic fiber cross-sectional area (p<0.0001.A primarily patched 3*3cm defect in growing rabbits, under laryngeal mask airway ventilation, enables adequate survival with normal lung function and reduced maximum transdiaphragmatic pressure compared to controls.

  10. Early neonatal death and congenital left coronary abnormalities: ostial atresia, stenosis and anomalous aortic origin.

    Science.gov (United States)

    Laux, Daniela; Bessières, Bettina; Houyel, Lucile; Bonnière, Maryse; Magny, Jean-François; Bajolle, Fanny; Boudjemline, Younes; Bonnet, Damien

    2013-04-01

    Congenital left coronary artery abnormalities such as ostial stenosis or atresia are extremely rare. Diagnosis in the neonate has not been reported. To describe five neonates with left coronary artery orifice abnormalities and discuss pathophysiology, diagnosis and treatment options, with a focus on the importance of autopsy in unexpected neonatal death. Retrospective assessment of medical files of neonates with left coronary abnormalities seen during a 12-year period (2000-2012). Three neonates with anatomical (n=2) and functional (n=1) left coronary stenosis and two neonates with ostial atresia were identified. The three infants with coronary stenosis died within minutes to days after birth because of cardiac failure refractory to intensive care treatment; at autopsy, left coronary ostial stenosis (n=2) and high take-off with acute angle origin and tangential vertical course (n=1) were diagnosed. The fourth neonate was in cardiac failure due to critical aortic stenosis; left coronary ostial atresia was diagnosed during an emergency catheter procedure and the infant died after aortic valve dilatation. The fifth infant had a cardiac arrest on the third day of life; she was diagnosed with left coronary ostial atresia by coronary angiography and died during attempted revascularization surgery at 2 weeks of life. Congenital coronary ostial abnormalities can lead to severe heart failure and unexpected neonatal death. Systematic examination of the coronary arteries should be part of any neonatal autopsy. Coronary angiography remains the diagnostic method of choice despite advances in non-invasive imaging. Revascularization surgery seems indicated in symptomatic children based on small patient series. Copyright © 2013. Published by Elsevier Masson SAS.

  11. Morphology of congenital portosystemic shunts involving the left colic vein in dogs and cats.

    Science.gov (United States)

    White, R N; Parry, A T

    2016-05-01

    To describe the anatomy of congenital portosystemic shunts involving the left colic vein in dogs and cats. Retrospective review of a consecutive series of dogs and cats managed for congenital portosystemic shunts. For inclusion a shunt involving the left colic vein with recorded intraoperative mesenteric portovenography or computed tomography angiography along with direct gross surgical observations at the time of surgery was required. Six dogs and three cats met the inclusion criteria. All cases had a shunt which involved a distended left colic vein. The final communication with a systemic vein was variable; in seven cases (five dogs, two cats) it was via the caudal vena cava, in one cat it was via the common iliac vein and in the remaining dog it was via the internal iliac vein. In addition, two cats showed caudal vena cava duplication. The morphology of this shunt type appeared to be a result of an abnormal communication between either the left colic vein or the cranial rectal vein and a pelvic systemic vein (caudal vena cava, common iliac vein or internal iliac vein). This information may help with surgical planning in cases undergoing shunt closure surgery. © 2016 British Small Animal Veterinary Association.

  12. Regional differences in right versus left congenital heart disease diagnoses in neonates in the United States.

    Science.gov (United States)

    Nelson, Jennifer S; Strassle, Paula D

    2018-03-01

    Differences in the prevalence of left and right congenital heart defects (CHD) across the United States are unclear. This study evaluated the overall prevalence and the distribution of right versus left CHD across US regions and divisions in neonates. Newborns born from 2000 to 2014 diagnosed with CHD were identified using the National Inpatient Sample. Heart defects were stratified into right, left, and "neither" subtypes. The risk of right and left heart diagnoses between US Census regions and divisions was compared using multivariable binomial regression, adjusting for infant, and hospital characteristics. Two hundred forty thousand four hundred fifty-five newborns were included and 38,185 (15.9%) were classifiable as having either right or left subtypes. Between 2000 and 2014, the prevalence of right defects increased from 1.65 to 2.88 cases/1,000 live born infants (p right heart defect diagnosis compared to the West. When stratified by division, New England states had a significantly higher prevalence of right defects compared to the Pacific (RD adj .09, 95% CI .06, 0.11). No differences in the prevalence of left defects were seen. The prevalence of CHD diagnoses at birth in the US has increased, and regional differences in the prevalence of right defects appear to exist. © 2017 Wiley Periodicals, Inc.

  13. Lesion characteristics driving right-hemispheric language reorganization in congenital left-hemispheric brain damage.

    Science.gov (United States)

    Lidzba, Karen; de Haan, Bianca; Wilke, Marko; Krägeloh-Mann, Ingeborg; Staudt, Martin

    2017-10-01

    Pre- or perinatally acquired ("congenital") left-hemispheric brain lesions can be compensated for by reorganizing language into homotopic brain regions in the right hemisphere. Language comprehension may be hemispherically dissociated from language production. We investigated the lesion characteristics driving inter-hemispheric reorganization of language comprehension and language production in 19 patients (7-32years; eight females) with congenital left-hemispheric brain lesions (periventricular lesions [n=11] and middle cerebral artery infarctions [n=8]) by fMRI. 16/17 patients demonstrated reorganized language production, while 7/19 patients had reorganized language comprehension. Lesions to the insular cortex and the temporo-parietal junction (predominantly supramarginal gyrus) were significantly more common in patients in whom both, language production and comprehension were reorganized. These areas belong to the dorsal stream of the language network, participating in the auditory-motor integration of language. Our data suggest that the integrity of this stream might be crucial for a normal left-lateralized language development. Copyright © 2017. Published by Elsevier Inc.

  14. Imaging findings in fetal diaphragmatic abnormalities

    Energy Technology Data Exchange (ETDEWEB)

    Alamo, Leonor; Gudinchet, Francois [University Hospital Center of Lausanne, Unit of Radiopediatrics, Department of Radiology, Lausanne (Switzerland); Meuli, Reto [University Hospital Center of Lausanne, Department of Radiology, Lausanne (Switzerland)

    2015-12-15

    Imaging plays a key role in the detection of a diaphragmatic pathology in utero. US is the screening method, but MRI is increasingly performed. Congenital diaphragmatic hernia is by far the most often diagnosed diaphragmatic pathology, but unilateral or bilateral eventration or paralysis can also be identified. Extralobar pulmonary sequestration can be located in the diaphragm and, exceptionally, diaphragmatic tumors or secondary infiltration of the diaphragm from tumors originating from an adjacent organ have been observed in utero. Congenital abnormalities of the diaphragm impair normal lung development. Prenatal imaging provides a detailed anatomical evaluation of the fetus and allows volumetric lung measurements. The comparison of these data with those from normal fetuses at the same gestational age provides information about the severity of pulmonary hypoplasia and improves predictions about the fetus's outcome. This information can help doctors and families to make decisions about management during pregnancy and after birth. We describe a wide spectrum of congenital pathologies of the diaphragm and analyze their embryological basis. Moreover, we describe their prenatal imaging findings with emphasis on MR studies, discuss their differential diagnosis and evaluate the limits of imaging methods in predicting postnatal outcome. (orig.)

  15. A case of congenital left brachium agenesis (amelia, brachiomelia monobrachium) in Sahel goat ecotype.

    Science.gov (United States)

    Samuel, Michael O; Adamu, Simon S; Ogiji, Emmanuel E; Bello, Danlami F; Allagh, John S; Ate, Iorhemba U; Rabol, Jude S

    2015-01-01

    This rare case of amelia in a doe-goat was observed in Tarka local government area, Benue State, middle belt region of Nigeria. The congenital deformity consisted of complete agenesis of the affected fore limb; the defect is commonly unilaterally manifested. The present congenitally impaired goat was approximately one and a half years old, and was a second kiddling of a normal multiparous dam. The left fore limb was grossly vestigial in development, while the homologous right hoof was splayed; the hind limbs were anatomically normal. Radiographs revealed morphological aberrations in intergumentary, skeletal, vascular, nervous systems and musculature of the affected limb. Sahel goat is alien to this developmental syndrome and this is to the best of our knowledge--the first case report of left sided brachial agenesia, (amelia) in a doe-goat of this breed. By season of occurrence, the hypothesis of interplay between genetics, climate and environment at large in the pathogenesis of this hereditary anomaly is raised and supported by the abundance of phytoteratogens in alternative diets in the dry seasons. The condition is compatible with life but may contribute to reproductive and economic loss in farms.

  16. Laparoscopic diaphragmatic hernioplasty in a dog

    Directory of Open Access Journals (Sweden)

    João Pedro Scussel Feranti Feranti

    2016-04-01

    Full Text Available A diaphragmatic hernia is characterized by the passage of the abdominal viscera into the thoracic cavity, which may be congenital or acquired. Its treatment is achieved by surgical correction. When there is no tissue or in cases of herniation with a chronic disease, the use biological or synthetic implants is recommended. The objective of this study was to report a technique of laparoscopic diaphragmatic hernia repair using bovine pericardium preserved in a canine, using three portal accesses. Due to the large diaphragmatic defect, reduction with the aid of a network of preserved bovine pericardium in formaldehyde 4% was chosen. The mesh was sutured to the transversus abdominus muscle in two layers. The first layer was sutured using simple continuous pattern, and the second one using simple interrupted sutures. The patient collapsed and died 24hours postoperatively. However, the purposed technique was feasible.

  17. Fatores prognósticos e sobrevida em recém-nascidos com hérnia diafragmática congênita Prognostic factors and survival in neonates with congenital diaphragmatic hernia

    Directory of Open Access Journals (Sweden)

    Luis R. Longo dos Santos

    2003-02-01

    Full Text Available Objetivo:analisar a importância de fatores prognósticos para sobrevida, no período neonatal, de pacientes com hérnia diafragmática congênita (HDC tratados no Hospital das Clínicas da FMUSP e comparar os resultados com os da literatura. Com isso, permitir a atualização do aconselhamento familiar e orientar mudanças de conduta em nosso serviço. Método: estudo retrospectivo de 27 casos consecutivos de recém-nascidos com HDC, admitidos no serviço de cirurgia pediátrica do Instituto da Criança do HCFMUSP entre abril de 1991 e janeiro de 2002, e comparação estatística com dados de meta-análise da literatura. Resultados: dos 27 pacientes, 12 nasceram na instituição, e 15 foram transferidos após o nascimento. Doze (44% tiveram diagnóstico pré-natal, e 85% (23/27 eram nascidos de termo. A maioria apresentou desconforto respiratório precoce e necessitou intubação em sala de parto. Seis crianças (22% reuniam critérios para indicação de ECMO. Vinte pacientes (74% foram submetidos à correção cirúrgica, e sete (26% evoluíram a óbito sem conseguir estabilização clínica mínima para a cirurgia (cinco destes apresentavam critérios para indicação de ECMO. A mortalidade pós-operatória foi de 25% (5/20. A sobrevida global no período neonatal foi de 56% (15/27. A sobrevida dos nascidos em nosso hospital foi de 33% (4/12, e dos casos externos foi de 73% (11/15. Desconforto respiratório grave, indicação precoce de ventilação mecânica e hipoxemia grave (pO2 pós-ductal Objective: to evaluate the prognostic factors importance to survival in neonatal period of newborns with congenital diaphragmatic hernia treated at Hospital das Clínicas, School of Medicine of Universidade de São Paulo, and to compare the outcome with data published in medical literature. So that the results of this study might allow updating family counseling and guiding changes in clinical management of our department. Methods: retrospective study

  18. Array comparative genomic hybridization in patients with congenital diaphragmatic hernia: mapping of four CDH-critical regions and sequencing of candidate genes at 15q26.1-15q26.2.

    Science.gov (United States)

    Slavotinek, Anne M; Moshrefi, Ali; Davis, Randy; Leeth, Elizabeth; Schaeffer, G Bradley; Burchard, González Esteban; Shaw, Gary M; James, Bristow; Ptacek, Louis; Pennacchio, Len A

    2006-09-01

    Congenital diaphragmatic hernia (CDH) is a common birth defect with a high mortality and morbidity. There have been few studies that have assessed copy number changes in CDH. We present array comparative genomic hybridization data for 29 CDH patients to identify and map chromosome aberrations in this disease. Three patients with 15q26.1-15q26.2 deletions had heterogeneous breakpoints that overlapped with the critical 4 Mb region previously delineated for CDH, confirming 15q26.1-15q26.2 as a critical region for CDH. The three other most compelling CDH-critical regions for genomic deletions based on these data and a literature review are located at chromosomes 8p23.1, 4p16.3-4pter, and 1q41-1q42.1. Based on these recurrent deletions at 15q26.1-15q26.2, we hypothesized that loss-of-function mutations in a gene or genes from this region could cause CDH and sequenced six candidate genes from this region in more than 100 patients with CDH. For three of these genes (CHD2, ARRDC4, and RGMA), we identified missense changes and that were not identified in normal controls; however, none of these alterations appeared unambiguously causal with CDH. These data suggest that CDH caused by chromosome deletions at 15q26.2 may arise because of a contiguous gene deletion syndrome or may have a multifactorial etiology. In addition, there is evidence for substantial genetic heterogeneity in CDH and diaphragmatic hernias can be non-penetrant in patients who have deletions involving CDH-critical regions.

  19. A case of hypoplasia of left lung with very rare associations with congenital absence of left pulmonary artery and right-sided aortic arch

    Directory of Open Access Journals (Sweden)

    Trilok Chand

    2017-01-01

    Full Text Available The absence of one of the pulmonary artery with associated hypoplasia of lung and great vessel abnormality is a rare finding. The incidence of this rare congenital abnormality is around 1 in 200,000 live birth. The absence of the left side pulmonary artery is again uncommon, and associated cardiac malformations are usually tetralogy of fallot or septal defects rather than an aortic arch defect. Our case is a unique case in It’s associated congenital anomalies. He was presented with recurrent pneumothorax and hemoptysis, and on thorough workup, he was diagnosed to have an absence of left pulmonary artery with hypoplasia of the left lung and associated right-sided aortic arch. The patient’s family has declined the surgical option, and he was managed conservatively and kept in close follow-up.

  20. Left-sided appendicitis in a patient with congenital gastrointestinal malrotation: a case report

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    Welte Frank J

    2007-09-01

    Full Text Available Abstract Background While appendicitis is the most common abdominal disease requiring surgical intervention seen in the emergency room setting, intestinal malrotation is relatively uncommon. When patients with asymptomatic undiagnosed gastrointestinal malrotation clinically present with abdominal pain, accurate diagnosis and definitive therapy may be delayed, possibly increasing the risk of morbidity and mortality. We present a case where CT was crucial diagnostically and helpful for pre-surgical planning in a patient presenting with an acute abdomen superimposed on complete congenital gastrointestinal malrotation. Case presentation A 46-year-old previously healthy male with four days of primarily left-sided abdominal pain, low-grade fevers, nausea and anorexia presented to the Emergency Department. His medical history was significant for poorly controlled diabetes and dyslipidemia. His white blood count at that time was elevated. Initial abdominal plain films suggested small bowel obstruction. A CT scan of the abdomen and pelvis was performed with oral and IV contrast to exclude diverticulitis, revealing acute appendicitis superimposed on congenital intestinal malrotation. Following consultation with the surgical team for surgical planning, the patient went on to laparoscopic appendectomy and did well postoperatively. Conclusion Atypical presentations of acute abdominal conditions superimposed on asymptomatic gastrointestinal malrotation can result in delays in delivery of definitive therapy and potentially increase morbidity and mortality if not diagnosed in a timely manner. Appropriate imaging can be helpful in hastening diagnosis and guiding intervention.

  1. Congenital Left Circumflex Coronary Artery Atresia Detected by 64-Slice Computed Tomography: A Case Report

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    Chen-Yuan Liu

    2007-06-01

    Full Text Available A variety of coronary artery disorders, including intramyocardial coronary segments and coronary artery anomalies, can result in sudden cardiac death, especially in young adults. The detection of structural coronary artery abnormalities is important in the management of patients at risk of sudden cardiac death. Coronary artery anomalies occur in about 1% of the population. Congenital absence of left circumflex coronary artery (LCX is a very rare vascular anomaly, and few cases have been reported in the literature, with a frequency of only 0.003% in all patients who underwent coronary angiography. Although coronary catheterization is the gold standard for the evaluation of coronary arterial patency disease, noninvasive computed tomography (CT is considered the diagnostic method of choice for the detection and evaluation of coronary artery anomaly. Herein, we report the case of a 17-year-old girl who presented with exertional dyspnea and chest pain and who was studied at our emergency department with the final diagnosis of LCX atresia detected by 64-slice CT. She may be the first case of congenital LCX atresia proved by multislice CT.

  2. Abordagem ventilatória protetora no tratamento da hérnia diafragmática congênita Gentle ventilatory approach for the treatment of congenital diaphragmatic hernia

    Directory of Open Access Journals (Sweden)

    Felipe de Souza Rossi

    2008-12-01

    Full Text Available OBJETIVO: Descrever a evolução de recém-nascidos com diagnóstico de hérnia diafragmática congênita admitidos na Unidade de Terapia Intensiva Neonatal de um hospital privado de nível terciário, no qual aplicou-se uma estratégia ventilatória protetora. MÉTODOS: Coorte histórica com análise de prontuários de pacientes portadores de hérnia diafragmática congênita, admitidos de junho de 2001 a julho de 2006. Avaliaram-se dados referentes ao recém-nascido (índices prognósticos antenatais, peso ao nascimento, idade gestacional, sexo, dados da reanimação e estabililização pré-operatória, cuidados pós-operatórios e taxa de sobrevida. RESULTADOS: Oito neonatos tiveram diagnóstico de hérnia diafragmática congênita. O peso variou entre 2,38 e 3,45kg e a idade gestacional, entre 36 e 39 semanas; cinco deles eram do sexo masculino. Todos foram intubados em sala de parto até o final do primeiro minuto de vida. A correção cirúrgica ocorreu entre o segundo e o sexto dias de vida e, em quatro pacientes, houve necessidade do uso de patch. Uma estratégia ventilatória protetora foi utilizada em seis neonatos, com dados gasométricos visando PaO2 pré-ductal normal e tolerando-se hipercapnia (PaCO2 50 a 60mmHg. A extubação ocorreu entre o primeiro e o 12ºdias do pós-operatório, com exceção de um paciente. Seis recém-nascidos receberam alta, em média, com 30 dias de vida (19 a 55 dias. A sobrevida foi de 75%. CONCLUSÕES: A sistematização do cuidado de pacientes com hérnia diafragmática congênita pode garantir, em nosso meio, uma sobrevida comparável aos principais centros mundiais que lidam com a doença.OBJECTIVE: To describe the clinical evolution of newborns with congenital diaphragmatic hernia admitted to neoretal Intensive Care Unit of a tertiary private hospital and treated with a gentle ventilatory approach. METHODS: Analysis of charts of patients born between June 2001 and July 2006. The following data

  3. Preferential streaming of the ductus venosus toward the right atrium is associated with a worse outcome despite a higher rate of invasive procedures in human fetuses with left diaphragmatic hernia.

    Science.gov (United States)

    Stressig, R; Fimmers, R; Schaible, T; Degenhardt, J; Axt-Fliedner, R; Gembruch, U; Kohl, T

    2013-12-01

    Preferential streaming of the ductus venosus (DV) toward the right atrium has been observed in fetuses with left diaphragmatic hernia (LDH). The purpose of this retrospective study was to compare survival rates to discharge between a group with preferential streaming of the DV toward the right heart and a group in which this abnormal flow pattern was not present. We retrospectively searched our patient records for fetuses with LDH in whom liver position, DV streaming and postnatal outcome information was available. 55 cases were found and divided into two groups: Group I fetuses exhibited abnormal DV streaming toward the right side of the heart; group II fetuses did not. Various prognostic and outcome parameters were compared. 62 % of group I fetuses and 88 % of group II fetuses survived to discharge (p = 0.032). Fetoscopic tracheal balloon occlusion (FETO) was performed in 66 % of group I fetuses and 23 % of group II fetuses (p = 0.003). Postnatal ECMO therapy was performed in 55 % of group I fetuses and 23 % of group II infants (p = 0.025). Moderate to severe chronic lung disease in survivors was observed in 56 % of the survivors of group I and 9 % of the survivors of group II (p = 0.002). Preferential streaming of the DV toward the right heart in human fetuses with left-sided diaphragmatic hernia was associated with a poorer postnatal outcome despite a higher rate of invasive pre- and postnatal procedures compared to fetuses without this flow abnormality. Specifically, abnormal DV streaming was found to be an independent predictor for FETO. © Georg Thieme Verlag KG Stuttgart · New York.

  4. Bochdalek's diaphragmatic hernia

    International Nuclear Information System (INIS)

    Kuckein, D.

    1984-01-01

    Bochdalek's diaphragmatic hernia (hernia through trigonum lumbocostale of diaphragm) may be demonstrated unequivocally via computerised tomography. An additional scan in prone position is recommended. In this way, not only the relationship of the hernia to the diaphragm can be shown but also the diaphragmatic gap (trigonum lumbocostale). In some cases sagittal image reconstruction is helpful to identify the hernia. (orig.) [de

  5. Persistent Left Superior Vena Cava Associated with Hemiazygos Vein Draining in It and Absence of Left Brachiocephalic Vein, in a Patient with Congenital Heart Defect

    Directory of Open Access Journals (Sweden)

    Opincariu Diana

    2016-09-01

    Full Text Available Persistent left superior vena cava is an anomalous vein that derives from a malfunction of obliteration of the left common cardinal vein during intrauterine life. The diagnosis can be suggested by a dilated coronary sinus as seen in echocardiography, or other imagistic methods. Due to the lack of hemodynamic impairment, and consequently with few or no symptoms, this vascular anomaly is frequently discovered incidentally. In this brief report we present the case of a 35-year-old male known with a complex congenital cardiovascular malformation that included atrial septum defect, persistent left superior vena cava and anomalous right pulmonary vein drainage in the PLSVC, diagnosed with sinoatrial block that required pacemaker implantation. Due to the patient’s medical history, investigations to decide the best approach needed for pacemaker implantation were performed, including a thoracic CT that incidentally found additional anomalies — the hemiazygos vein draining in PLSVC and the lack of the left brachiocephalic vein.

  6. Region of interest-based versus whole-lung segmentation-based approach for MR lung perfusion quantification in 2-year-old children after congenital diaphragmatic hernia repair

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    Weis, M.; Sommer, V.; Hagelstein, C.; Schoenberg, S.O.; Neff, K.W. [Heidelberg University, Institute of Clinical Radiology and Nuclear Medicine, University Medical Center Mannheim, Medical Faculty Mannheim, Mannheim (Germany); Zoellner, F.G. [Heidelberg University, Computer Assisted Clinical Medicine, Medical Faculty Mannheim, Mannheim (Germany); Zahn, K. [University of Heidelberg, Department of Paediatric Surgery, University Medical Center Mannheim, Medical Faculty Mannheim, Mannheim (Germany); Schaible, T. [Heidelberg University, Department of Paediatrics, University Medical Center Mannheim, Medical Faculty Mannheim, Mannheim (Germany)

    2016-12-15

    With a region of interest (ROI)-based approach 2-year-old children after congenital diaphragmatic hernia (CDH) show reduced MR lung perfusion values on the ipsilateral side compared to the contralateral. This study evaluates whether results can be reproduced by segmentation of whole-lung and whether there are differences between the ROI-based and whole-lung measurements. Using dynamic contrast-enhanced (DCE) MRI, pulmonary blood flow (PBF), pulmonary blood volume (PBV) and mean transit time (MTT) were quantified in 30 children after CDH repair. Quantification results of an ROI-based (six cylindrical ROIs generated of five adjacent slices per lung-side) and a whole-lung segmentation approach were compared. In both approaches PBF and PBV were significantly reduced on the ipsilateral side (p always <0.0001). In ipsilateral lungs, PBF of the ROI-based and the whole-lung segmentation-based approach was equal (p=0.50). In contralateral lungs, the ROI-based approach significantly overestimated PBF in comparison to the whole-lung segmentation approach by approximately 9.5 % (p=0.0013). MR lung perfusion in 2-year-old children after CDH is significantly reduced ipsilaterally. In the contralateral lung, the ROI-based approach significantly overestimates perfusion, which can be explained by exclusion of the most ventral parts of the lung. Therefore whole-lung segmentation should be preferred. (orig.)

  7. Diaphragmatic hernia in the Coffin-Siris syndrome.

    Science.gov (United States)

    Delvaux, V; Moerman, P; Fryns, J P

    1998-01-01

    At 32 weeks of gestation, delivery of a female fetus was induced because of severe malformations seen on ultrasonogram: congenital diaphragmatic hernia and cerebellar hypoplasia. The diagnosis of Coffin-Siris syndrome was based on the physical examination: coarse face with low-set ears, low nuchal hairline, scalp hypotrichosis and hypoplasia of the nails of fingers and toes with absence of the right fifth fingernail. Autopsy confirmed the prenatally diagnosed major associated abnormalities: hypoplasia of the cerebellum and congenital diaphragmatic hernia. Various clinical entities are included in the differential diagnosis.

  8. O valor da ultra-sonografia e da ressonância magnética fetal na avaliação das hérnias diafragmáticas The value of fetal ultrasonography and magnetic resonance imaging in the assessment of diaphragmatic hernias

    Directory of Open Access Journals (Sweden)

    Bruno Amim

    2008-02-01

    diaphragmatic hernia were assessed by means of magnetic resonance imaging on a 1.5 tesla equipment, following the standard protocol. Two radiologists evaluated the images and the findings were defined by consensus. RESULTS: Twelve fetuses had left diaphragmatic hernia and two, right diaphragmatic hernia. Ultrasonography showed the fetal liver inside the thorax of five fetuses (three with left diaphragmatic hernia, and two with right diaphragmatic hernia and magnetic resonance imaging in eight fetuses (six with left diaphragmatic hernia, and two with right diaphragmatic hernia. Stomach and small bowel loop herniation was observed in all of the fetuses with left diaphragmatic hernia (n = 12 at both magnetic resonance imaging and ultrasonography. Eight fetuses (seven with left diaphragmatic hernia and one with right diaphragmatic hernia survived after surgical treatment. CONCLUSION: Ultrasonography and magnetic resonance imaging are complementary imaging methods in the evaluation of congenital diaphragmatic hernia. Magnetic resonance imaging is a helpful diagnostic method complementary to ultrasonography for evaluation of the fetal liver positioning, considering its relevance as a prognostic factor in cases of congenital diaphragmatic hernia.

  9. A comparison of the characteristics and precision of needle driving for right-handed pediatric surgeons between right and left driving using a model of infant laparoscopic diaphragmatic hernia repair.

    Science.gov (United States)

    Ikee, Takamasa; Onishi, Shun; Mukai, Motoi; Kawano, Takafumi; Sugita, Koshiro; Moriguchi, Tomoe; Yamada, Koji; Yamada, Waka; Masuya, Ryuta; Machigashira, Seiro; Nakame, Kazuhiko; Kaji, Tatsuru; Ieiri, Satoshi

    2017-10-01

    We compared the characteristics and precision of right and left needle driving for right-handed pediatric surgeons using a laparoscopic diaphragmatic repair model. Eighteen right-handed pediatric surgeons performed three needle driving maneuvers using both hands. We evaluated the required time and conducted an image analysis. The total path length, velocity, and acceleration of the needle driving were also evaluated. Obtained results show the findings for the required time (s, Rt 310.78 ± 148.93 vs. Lt 308.61 ± 122.53, p = 0.93), sum of needle driving balances (mm, Rt 5.23 ± 2.44 vs. Lt 5.05 ± 3.17, p = 0.83), the gap of the needle driving interval (Rt 1.2 ± 0.93 vs. Lt 2.17 ± 1.67, p = 0.04), total path length (mm, Rt 594.03 ± 205.29 vs. Lt 1641.07 ± 670.68, p handed pediatric surgeons, left needle driving showed almost same quality of right needle driving as regarding the precision. But left needle driving also showed too fast but not economical movement unfortunately, implying rough and risky forceps manipulation. Non-dominant hand training is necessary to avoid organ injury.

  10. Delayed Presentation of Traumatic Diaphragmatic Hernia: The Evaluation of Surgical Treatment Results

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    Ali Sadrizadeh

    2015-06-01

    Full Text Available Introduction: Diaphragmatic hernia could be caused by congenital disorders, blunt trauma or penetrating injuries. The diagnosis of traumatic diaphragmatic hernia is normally neglected during the first presentation leading to late complications and considerably increased mortality and morbidity among the patients. Materials and Methods: In this retrospective, descriptive study, we reviewed the medical records of patients presented with traumatic diaphragmatic hernia who had undergone surgical operations between 1982-2015 in Ghaem Hospital and Omid Hospital affiliated to Mashhad University of Medical Sciences, Iran. The studied variables included age, gender, clinical symptoms, location of hernia, involved organs, type of imaging modalities, surgical techniques, length of hospital stay, mortality rate and surgical complications. Results: In this study, 38 patients were diagnosed with traumatic diaphragmatic hernia consisting of 28 men and 10 women. In total, 79% and 21% of the patients suffered from penetrating trauma and blunt trauma, respectively. In addition, left-sided, right-sided and bilateral hernias were present in 33%, 4% and 1% of the patients, respectively. The most frequently herniated organ was the stomach, and the most common clinical symptoms were abdominal pain (84% and dyspnea (53%. Initially, chest radiographs were performed on all the patients, and thoracotomy was performed to repair diaphragmatic tears in all the cases (100%. In this study, 3 patients had previously undergone Hartmann’s operation for gangrenous herniated colon, and devolvulation of gastric volvulus had also been performed on 3 patients. The main post-operative complications were reported to be pneumonia and respiratory insufficiency (2 cases, and the mean length of hospital stay was 6 days (5-8 days which was longer (1-2 months in patients with gangrenous bowel (3 patients. Furthermore, no mortality was reported during the course of hospitalization in these

  11. Right upper limb bud triplication and polythelia, left sided hemihypertrophy and congenital hip dislocation, facial dysmorphism, congenital heart disease, and scoliosis: disorganisation-like spectrum or patterning gene defect?

    Science.gov (United States)

    Sabry, M A; al-Saleh, Q; al-Saw'an, R; al-Awadi, S A; Farag, T I

    1995-07-01

    A Somali female baby with right upper limb triplication, polythelia, left sided hemihypertrophy, congenital hip dislocation, facial dysmorphism, congenital heart disease, and scoliosis is described. It seems that the above described pattern of anomalies has not been reported before. The possible developmental genetic mechanism responsible for this phenotype is briefly discussed.

  12. Conventional mesh repair of a giant iatrogenic bilateral diaphragmatic hernia with an enterothorax

    Directory of Open Access Journals (Sweden)

    Lingohr P

    2014-02-01

    Full Text Available Philipp Lingohr,1 Thomas Galetin,2 Boris Vestweber,2 Hanno Matthaei,1 Jörg C Kalff,1 Karl-Heinz Vestweber2 1Department of Surgery, University of Bonn, Bonn, Germany; 2Department of Surgery, Klinikum Leverkusen, Leverkusen, Germany Purpose: Diaphragmatic hernias (DHs are divided into congenital and acquired hernias, most of which are congenital. Among acquired DHs, up to 80% are left-sided, only a few iatrogenic DHs have been reported, and bilateral hernias are extremely rare. For diagnostic reasons, many DHs are overlooked by ultrasonography or X-ray and are only recognized at a later stage when complications occur. Methods: In 2009, we performed three partial diaphragm replacements in our clinic for repairing DHs using a PERMACOL™ implant. Results: As all patients had uneventful postoperative courses and the clinical outcomes were very good, we present one special case of a 65-year-old male with a giant iatrogenic bilateral DH with an enterothorax. Conclusion: We see a good indication for diaphragm replacements by using a PERMACOL™ implant for fixing especially DHs with huge hernial gaps and in cases with fragile tissue. Keywords: bilateral diaphragmatic hernia, enterothorax, conventional hernia repair, PERMACOL™, biological implant, diaphragm replacement, mesh repair

  13. Diaphragmatic crural eventration

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    Sivakumar K

    2008-01-01

    Full Text Available Aim: We evaluated patients with gastric volvulus secondary to diaphragmatic pathology. Materials and Methods: Eight patients (5 males and 3 females presented to the author in a tertiary care center during 1997-2006 were analyzed in terms of age, sex, symptomatology, diagnosis and predisposing factors. Observations: Six had an acute presentation and rest had chronic symptomatology. The two patients who had total gangrene stomach died postoperatively and one patient died preoperatively due to aspiration. All the cases presented with acute symptoms had diaphragmatic pathology, and out of these, three cases had the specific entity, which is named as diaphragmatic crural eventration. Conclusions: Diaphragmatic crural eventration is characterized by the defective development of the right crus of diaphragm, and this is embryologically significant as the right crus and ligaments of the stomach develop from dorsal mesoesophagus and mesogastrium. The author recommends a closer look for this defect of diaphragm while operating a case of gastric volvulus.

  14. Iatrogenic diaphragmatic hernia in infants: Potentially catastrophic when overlooked

    Directory of Open Access Journals (Sweden)

    Yousef El-Gohary

    2014-11-01

    Full Text Available Acquired diaphragmatic hernias are a rare occurrence. They can result from blunt, penetrating or inadvertent iatrogenic injury. When overlooked they can potentially be catastrophic. We report a case of iatrogenic diaphragmatic hernia in a six-month old infant presenting with acute respiratory distress as a result of strangulated bowel herniating into the left hemithorax caused from a traumatic chest tube insertion in the neonatal period.

  15. Blunt traumatic diaphragmatic rupture

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    Antonio Carlos Nogueira

    2011-09-01

    Full Text Available Traumatic injury of the diaphragm ranges from 0.6 to 1.2% and rise up to 5%among patients who were victims of blunt trauma and underwent laparotomy.Clinical suspicion associated with radiological assessment contributes to earlydiagnosis. Isolated diaphragmatic injury has a good prognosis. Generallyworse outcomes are associated with other trauma injuries. Bilateral andright diaphragmatic lesions have worse prognosis. Multi detector computed tomography (MDCT scan of the chest and abdomen provides better diagnosticaccuracy using the possibility of image multiplanar reconstruction. Surgicalrepair via laparotomy and/ or thoracotomy in the acute phase of the injury hasa better outcome and avoids chronic complications of diaphragmatic hernia.The authors present the case of a young male patient, victim of blunt abdominaltrauma due to motor vehicle accident with rupture of the diaphragm, spleenand kidney injuries. The diagnosis was made by computed tomography of thethorax and abdomen and was confirmed during laparotomy.

  16. outcome of delayed diagnosis in traumatic diaphragmatic injuries

    African Journals Online (AJOL)

    SECRET-NEURO

    The fundus of the stomach was herniated into the left hemithorax through a large left diaphragmatic defect of about 10 cm in diameter. There was a tear on the body of the stomach. The defects were repaired and the abscesses drained. The patient continued to run a relentless fever and went into septic shock and died two ...

  17. The Effect of Diaphragmatic Plication on Pulmonary Function Test, Dyspnea Score and Arterial Blood Gases: Analysis 11 Patients with Diaphragmatic Elevation

    Directory of Open Access Journals (Sweden)

    Osman Toktas

    2011-05-01

    Full Text Available Aim: Diaphragmatic evantration or paralysis in adults is associated with respiratory distress. In this study, we aimed to compare preoperative and postoperative pulmonary function tests, arterial blood gas analyses and dyspnea scores of the cases in whom plication had been performed for diaphragmatic elevation. Material and Methods: Between January 2004 and March 2010 eleven adult patients who had undergone diaphragmatic plication due to diaphragmatic paralysis and eventration were analyzed. There were 7 (63.63% men and 4 (36.37% women aged 28-65 (mean 38 ± 2.9. Diaphragmatic plication was performed. Pulmonary function test, dyspnea scores, and arterial blood gases in the preoperative and postoperative period were studied. Results: Dyspnea was present in all of the cases and a decrease in both FVC, FEV1, FEV1/FVC values of pulmonary function test and partial pressure of oxygen in the arterial blood were observed. In chest x-ray and thorax computed tomography, it was detected that right or left diaphragm was elevated. Diaphragmatic paralysis was detected by fluoroscopy in 6 patients. Transthoracally, diaphragmatic plication was performed to the cases. There were no postoperative complications or deaths. In postoperative six and twelve months, significant improvements in the symptoms, the values of pulmonary function tests, partial pressure of oxygen in the arterial blood and dyspnea scores of the patients were observed. Conclusions: Diaphragmatic plication is a safe and effective procedure for adult patients with dyspnea due to unilateral diaphragmatic elevation. Lung expansion is easily achieved by performing diaphragm plication.

  18. Left atrial isomerism associated with asplenia: prenatal echocardiographic detection of complex congenital cardiac malformations

    NARCIS (Netherlands)

    Stewart, P. A.; Becker, A. E.; Wladimiroff, J. W.; Essed, C. E.

    1984-01-01

    Complex congenital heart disease with suspected isomerism of the atria was diagnosed in two fetuses of 20 and 29 weeks' gestation using two-dimensional and M-mode scanning techniques. The first pregnancy was terminated at 21 weeks' gestation and stillbirth occurred at 31 weeks' gestation in the

  19. Late diagnosed congenital agenesis of the left lung in 15-year-old boy

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    Majka Jaszczura

    2017-03-01

    Full Text Available Pulmonary agenesis is a rare congenital lung defect involving the complete absence of the primary bronchus as well as pulmonary parenchyma and vessels. Unilateral agenesis occurs at the rate of 1/10,000–20,000 pregnancies. The cause of this defect is still unknown. This abnormality does not cause any specific symptoms; it may lead to respiratory failure, but an asymptomatic course lasting many years is also possible. This defect can often be suspected based on a chest radiograph performed for other reasons. We present the case of a 15-year-old boy with an accidental diagnosis of left pulmonary agenesis. Upon diagnosis the patient did not report any complaints. During a routine visit at an allergy clinic decreased vesicular sounds were present on the left side. A subsequent chest radiograph was reported as showing left lung inferior lobe atelectasis, which was an indication for a more comprehensive diagnostic investigation. A computed tomography scan revealed the complete absence of the left lung.

  20. Traumatic intrapericardial diaphragmatic hernia

    Energy Technology Data Exchange (ETDEWEB)

    Kuzucu, Akin [Inonu University School of Medicine, Department of Thoracic Surgery, Malatya (Turkey); Isik, Burak [Inonu University School of Medicine, Department of General Surgery, Malatya (Turkey); Baysal, Tamer [Inonu University School of Medicine, Department of Radiology, Malatya (Turkey)]. E-mail: tbaysal@inonu.edu.tr; Soysal, Omer [Inonu University School of Medicine, Department of Thoracic Surgery, Malatya (Turkey); Ulutas, Hakki [Inonu University School of Medicine, Department of Thoracic Surgery, Malatya (Turkey)

    2007-05-15

    Herniation of abdominal viscera into the pericardial space is a rare occurrence involving a sacless entry through a rent in the pericardial portion of the diaphragm's central tendon. Intrapericardial diaphragmatic hernia is often overlooked both clinically and radiologically and more pressing cardiorespiratory and orthopaedic abnormalities are addressed. The traumatic patient presented here had air shadows above the diaphragm on his chest radiograph. Chest computed tomography showed displacement of heart and air-filled mass, suspicious of a bowel loop, in the pericardial sac. A diagnosis of intrapericardial hernia was made in this patient who was haemodynamically unstable. The diaphragmatic tear was surgically repaired and the patient's postoperative course was uncomplicated.

  1. Features of Somatic and Reproductive Status of Women, who Gave Birth to a Child with Congenital Malformations, and Their Identifiсation Using «Case — Control» Method According to Data of Lviv Regional Clinical Perinatal Center in 2007–2009

    Directory of Open Access Journals (Sweden)

    Zborovska N.V. Zborovska N.V.

    2012-04-01

    While comparing a range of reproductive anamnesis indices there was noticed a higher percentage of dead children, stillbirths, anemia in pregnancy, gestosis in the first half of pregnancy, gestosis in the second half of pregnancy, abnormal labors in mothers who gave birth to a child with congenital malformations than in women of control group. According to ultrasound diagnosis congenital abnormalities in pregnancy were detected in 31.6 % of cases. There were diagnosed 4 cases of Arnold — Chiari syndrome (spina bifida and internal hydrocephalus; and 3 cases of each: hydrocephalus, gastroschisis, small intestinal atresia, and 2 cases of each: congenital malformations, hypoplastic left heart syndrome, Down’s syndrome, congenital diaphragmatic hernia, omphalocele, congenital rectal atresia, and 1 case of each: spina bifida, congenital absence of forearm and hand, left ventricular rabdomioma, encephalocele.

  2. Giant congenital aneurysm of the appendix of the left auricle; an entity potentially lethal

    International Nuclear Information System (INIS)

    Perafan, Sergio; Ascione, Giovanny; Parra, Luis E; Jimenez, Luz S

    2004-01-01

    The case of a 22 years old female patient who at 16 years of age suffered a closed thoracic trauma during a car accident is reported. She underwent surgery under extra corporeal circulation with femoro-femoral cannulation with the diagnosis of rupture of the left atrium. a large aneurysm of the left auricle without evidence of heart trauma, pericardial leakage or hemo pericardium, was found. The surgeon decided not to perform surgery on the aneurysm and to withdraw the extra corporeal circulation, proceeding to suture the patient, who was released with the recommendation of performing additional studies in order to consider the handling of the aneurysm. Six years later she is sent to our institution with the diagnosis of cerebral embolism with left hemiparesis, and a giant partially thrombosed left auricle aneurysm. With a diagnosis of an embolizing partially thrombosed aneurysm of the left auricle she underwent surgery under extracorporeal circulation in order to resect it. The case with the intraoperative findings and the surgical technique are described. Different manifestations and expressions of this potentially lethal rare entity are detailed, concluding that it is imperative to resect surgically the aneurysm once it has been diagnosed

  3. Pericardial Window Formation Complicated by Intrapericardial Diaphragmatic Hernia

    Directory of Open Access Journals (Sweden)

    Jeremy Docekal

    2014-01-01

    Full Text Available In rare circumstances, a diaphragmatic defect may allow for herniation of intra-abdominal contents into the pericardial space. These occurrences are exceedingly rare and may be due to trauma or congenital defects of the septum transversum or as the result of surgical procedures. We describe a 73-year-old female who presented with cardiac and abdominal symptoms one month after undergoing a subxiphoid pericardioperitoneal window for treatment and evaluation of a symptomatic pericardial effusion.

  4. Genetics Home Reference: congenital diaphragmatic hernia

    Science.gov (United States)

    ... proteins involved in cell structure or the movement (migration) of cells in the embryo. Environmental factors that ... a personal health condition should consult with a qualified healthcare professional . About Selection Criteria for Links Data ...

  5. Comparison of Radiography and Ultrasonography for Diagnosis of Diaphragmatic Hernia in Bovines

    Directory of Open Access Journals (Sweden)

    Hakim Athar

    2010-01-01

    Full Text Available The present study was conducted on 101 animals suffering from thoracoabdominal disorders; out of which twenty seven animals (twenty six buffaloes and one cow were diagnosed with diaphragmatic hernia based on clinical signs, radiography, ultrasonography, and left flank laparorumenotomy. Radiography alone confirmed diaphragmatic hernia in 18 cases (66.67% with a sac-like structure cranial to the diaphragm. In 15 animals the sac contained metallic densities while in three cases a sac-like structure with no metallic densities was present. Ultrasonography was helpful in confirming diaphragmatic hernia in 23 cases (85.18% and ultrasonographically reticular motility was evident at the level of 4th/5th intercostal space in all the animals. B+M mode ultrasonography was used for the first time for diagnosis of diaphragmatic hernia in bovines and the results suggested that ultrasonography was a reliable diagnostic modality for diaphragmatic hernia in bovines.

  6. MR diagnosis of diaphragmatic endometriosis

    International Nuclear Information System (INIS)

    Rousset, Pascal; Gregory, Jules; Coste, Joel; Rousset-Jablonski, Christine; Hugon-Rodin, Justine; Regnard, Jean-Francois; Chapron, Charles; Golfier, Francois; Revel, Marie-Pierre

    2016-01-01

    To evaluate magnetic resonance imaging (MRI) for diaphragmatic endometriosis diagnosis. Over a 2-year period, all diaphragmatic MRI performed in the context of diaphragmatic endometriosis were reviewed. Axial and coronal fat-suppressed T1- and T2-weighted sequences were analyzed by two independent readers for the presence of nodules, plaque lesions, micronodule clustering, or focal liver herniation. MR abnormalities were correlated to surgical findings in women surgically treated. Interobserver agreement was assessed by κ statistics. Twenty-three women with diaphragmatic endometriosis criteria comprised the population; 14 had surgical confirmation and nine had symptoms relief with hormonal treatment. MRI sensitivity was 83 % (19/23; 95 % confidence interval [CI]: 68, 98) for reader 1 and 78 % (18/23; 95 % CI: 61, 95) for reader 2. Kappa value was 0.86 (95 % CI: 0.47, 1.00). Readers 1 and 2 detected 35 and 36 lesions, respectively, all right-sided and agreed for 32 lesions on the type, location, and signal. Lesions were mostly nodules (23/32, 72 %), predominantly posterior (28/32, 87.5 %) and hyperintense on T1 (20/32, 63 %). MRI was negative for both readers in 2 surgically treated patients with small nodules or isolated diaphragmatic holes. MRI allows diaphragmatic endometriosis diagnosis with 78 to 83 % sensitivity and excellent interobserver agreement. (orig.)

  7. MR diagnosis of diaphragmatic endometriosis

    Energy Technology Data Exchange (ETDEWEB)

    Rousset, Pascal [Lyon 1 Claude Bernard University, Villeurbanne (France); Centre Hospitalier Lyon Sud, Radiology Department, Pierre Benite (France); Gregory, Jules; Coste, Joel [Paris Descartes University, Sorbonne Paris Cite, Paris (France); Groupe Hospitalier Cochin Hotel-Dieu, Biostatistics and Epidemiology department, Paris (France); Rousset-Jablonski, Christine [Centre Hospitalier Lyon Sud, Obstetric and Gynecologic Department, Pierre Benite (France); Hugon-Rodin, Justine [Paris Descartes University, Sorbonne Paris Cite, Paris (France); Groupe Hospitalier Cochin Hotel-Dieu, Gynecology Endocrinology Department, Paris (France); Regnard, Jean-Francois [Paris Descartes University, Sorbonne Paris Cite, Paris (France); Groupe Hospitalier Cochin Hotel-Dieu, Thoracic Surgery Department, Paris (France); Chapron, Charles [Paris Descartes University, Sorbonne Paris Cite, Paris (France); Groupe Hospitalier Cochin Hotel-Dieu, Obstetric and Gynecologic Department, Paris (France); Golfier, Francois [Lyon 1 Claude Bernard University, Villeurbanne (France); Centre Hospitalier Lyon Sud, Obstetric and Gynecologic Department, Pierre Benite (France); Revel, Marie-Pierre [Paris Descartes University, Sorbonne Paris Cite, Paris (France); Groupe Hospitalier Cochin Hotel-Dieu, Radiology Department, Paris (France)

    2016-11-15

    To evaluate magnetic resonance imaging (MRI) for diaphragmatic endometriosis diagnosis. Over a 2-year period, all diaphragmatic MRI performed in the context of diaphragmatic endometriosis were reviewed. Axial and coronal fat-suppressed T1- and T2-weighted sequences were analyzed by two independent readers for the presence of nodules, plaque lesions, micronodule clustering, or focal liver herniation. MR abnormalities were correlated to surgical findings in women surgically treated. Interobserver agreement was assessed by κ statistics. Twenty-three women with diaphragmatic endometriosis criteria comprised the population; 14 had surgical confirmation and nine had symptoms relief with hormonal treatment. MRI sensitivity was 83 % (19/23; 95 % confidence interval [CI]: 68, 98) for reader 1 and 78 % (18/23; 95 % CI: 61, 95) for reader 2. Kappa value was 0.86 (95 % CI: 0.47, 1.00). Readers 1 and 2 detected 35 and 36 lesions, respectively, all right-sided and agreed for 32 lesions on the type, location, and signal. Lesions were mostly nodules (23/32, 72 %), predominantly posterior (28/32, 87.5 %) and hyperintense on T1 (20/32, 63 %). MRI was negative for both readers in 2 surgically treated patients with small nodules or isolated diaphragmatic holes. MRI allows diaphragmatic endometriosis diagnosis with 78 to 83 % sensitivity and excellent interobserver agreement. (orig.)

  8. Congenital diaphramatic hernia

    International Nuclear Information System (INIS)

    Kline-Fath, Beth M.

    2012-01-01

    Congenital diaphragmatic hernia, despite advances in therapy, remains a complex condition with significant morbidity and mortality. The etiology of the disorder is still incompletely understood, though the pulmonary hypoplasia and pulmonary hypertension that develop secondarily must be overcome to improve survival. Prenatal US and fetal MRI have helped in the development of a greater understanding of this disease. Also with these modalities, measurement techniques have been developed in an attempt to provide prognosticators for the development of pulmonary hypoplasia and pulmonary hypertension. There is a broad range of approaches for performing these measurements, and variability among imaging centers is noted. Despite inconsistent approaches, these techniques have become the foundation for counseling and prenatal and postnatal therapy. It is hoped that with further research with prenatal US and fetal MRI and the development of innovative medical and surgical therapies that the morbidity and mortality of children with congenital diaphragmatic hernias can be significantly reduced. (orig.)

  9. Congenital diaphramatic hernia

    Energy Technology Data Exchange (ETDEWEB)

    Kline-Fath, Beth M. [Cincinnati Children' s Hospital Medical Center, Department of Radiology, Fetal Care Center of Cincinnati, Cincinnati, OH (United States); Cincinnati Children' s Hospital Medical Center, Department of Radiology, MLC 5031, Cincinnati, OH (United States)

    2012-01-15

    Congenital diaphragmatic hernia, despite advances in therapy, remains a complex condition with significant morbidity and mortality. The etiology of the disorder is still incompletely understood, though the pulmonary hypoplasia and pulmonary hypertension that develop secondarily must be overcome to improve survival. Prenatal US and fetal MRI have helped in the development of a greater understanding of this disease. Also with these modalities, measurement techniques have been developed in an attempt to provide prognosticators for the development of pulmonary hypoplasia and pulmonary hypertension. There is a broad range of approaches for performing these measurements, and variability among imaging centers is noted. Despite inconsistent approaches, these techniques have become the foundation for counseling and prenatal and postnatal therapy. It is hoped that with further research with prenatal US and fetal MRI and the development of innovative medical and surgical therapies that the morbidity and mortality of children with congenital diaphragmatic hernias can be significantly reduced. (orig.)

  10. Traumatic diaphragmatic ruptures: clinical presentation, diagnosis and surgical approach in adults

    Directory of Open Access Journals (Sweden)

    Hofmann, Sabine

    2012-01-01

    Full Text Available Objective: Traumatic diaphragmatic injuries are rare, but potentially life-threatening due to herniation of abdominal organs into the pleural cavities. They can be easily overlooked on initial diagnostics and a high index of suspicion is required. The aim of this retrospective study was to analyze the clinical presentation, diagnostic methods and surgical management of patients with diaphragmatic rupture at our institution. Methods: A retrospective study was performed to analyze our experience with patients suffering from traumatic diaphragmatic rupture. Charts were reviewed for sex, age, side-location, concomitant injuries, time-to-diagnosis, diagnostic methods, surgical approach and outcome. Results: Fourteen patients (median age: 46 yrs, range 18–71, 9 male, 5 female with diaphragmatic injuries (left side: 10, right side: 4 were treated between July 2003 and September 2011. Mechanism of injury was a penetrating trauma (14%, blunt trauma (50% and others (36%. Associated abdominal injuries included spleen rupture (n=3, liver laceration (n=2, abdominal wall laceration (n=2 and gastric perforation (n=1. Computed tomography was the most sensitive diagnostic method. All patients underwent trans-abdominal repair of the diaphragmatic defect (direct suture: 10, prosthetic mesh insertion: 4. Associated abdominal procedures included splenectomy (n=3, liver packing (n=2, abdominal wall reconstruction (n=2 and partial gastric resection (n=1. Morbidity and hospital mortality rate were 36% and 0%, respectively. Median postoperative hospital stay was 17 days (range: 7–40 days. Conclusion: Morbidity and mortality of diaphragmatic ruptures are mainly determined by associated injuries or complications of diaphragmatic herniation like incarceration of viscera or lung failure. Early diagnosis helps to prevent severe complications. Spiral CT-scan is the most reliable tool for acute diagnosis of diaphragmatic rupture and associated visceral lacerations

  11. Decreased Rac1 Cardiac Expression in Nitrofen-Induced Diaphragmatic Hernia.

    Science.gov (United States)

    Nakamura, Hiroki; Zimmer, Julia; Puri, Prem

    2018-02-01

     The high incidence of cardiac malformations in humans and animal models with congenital diaphragmatic hernia (CDH) is well known. The hypoplasia of left heart is common among fetuses with CDH and has been identified as a poor prognostic factor. However, the precise mechanisms underlying cardiac maldevelopment in CDH are not fully understood. Ras-related C3 botulinum toxin substrate 1 (Rac1) plays a key role in cardiomyocyte polarity and embryonic heart development. Deficiency of Rac1 is reported to impair elongation and cytoskeletal organization of cardiomyocytes, resulting in congenital cardiac defects. We designed this study to test the hypothesis that Rac1 expression is downregulated in the developing hearts of rats with nitrofen-induced CDH.  Following ethical approval (REC1103), time-pregnant Sprague Dawley rats received nitrofen or vehicle on gestational day 9 (D9). Fetuses were sacrificed on D18 and D21 and divided into CDH and control (CTRL) ( n  = 6 for each group and time point). Quantitative real-time polymerase chain reaction (qRT-PCR), Western blotting, and confocal-immunofluorescence microscopy were performed to detect cardiac gene and protein expression of Rac1.  qRT-PCR and Western blot analysis revealed that Rac1 expression was significantly decreased in the CDH group compared with controls ( p  Rac1 cardiac expression was markedly decreased in the CDH group compared with controls.  Decreased cardiac Rac1 expression in the nitrofen-induced CDH suggests that Rac1 deficiency during morphogenesis may impair structural cardiac remodeling, resulting in congenital cardiac defects. Georg Thieme Verlag KG Stuttgart · New York.

  12. Whole exome sequencing in 342 congenital cardiac left sided lesion cases reveals extensive genetic heterogeneity and complex inheritance patterns.

    Science.gov (United States)

    Li, Alexander H; Hanchard, Neil A; Furthner, Dieter; Fernbach, Susan; Azamian, Mahshid; Nicosia, Annarita; Rosenfeld, Jill; Muzny, Donna; D'Alessandro, Lisa C A; Morris, Shaine; Jhangiani, Shalini; Parekh, Dhaval R; Franklin, Wayne J; Lewin, Mark; Towbin, Jeffrey A; Penny, Daniel J; Fraser, Charles D; Martin, James F; Eng, Christine; Lupski, James R; Gibbs, Richard A; Boerwinkle, Eric; Belmont, John W

    2017-10-31

    Left-sided lesions (LSLs) account for an important fraction of severe congenital cardiovascular malformations (CVMs). The genetic contributions to LSLs are complex, and the mutations that cause these malformations span several diverse biological signaling pathways: TGFB, NOTCH, SHH, and more. Here, we use whole exome sequence data generated in 342 LSL cases to identify likely damaging variants in putative candidate CVM genes. Using a series of bioinformatics filters, we focused on genes harboring population-rare, putative loss-of-function (LOF), and predicted damaging variants in 1760 CVM candidate genes constructed a priori from the literature and model organism databases. Gene variants that were not observed in a comparably sequenced control dataset of 5492 samples without severe CVM were then subjected to targeted validation in cases and parents. Whole exome sequencing data from 4593 individuals referred for clinical sequencing were used to bolster evidence for the role of candidate genes in CVMs and LSLs. Our analyses revealed 28 candidate variants in 27 genes, including 17 genes not previously associated with a human CVM disorder, and revealed diverse patterns of inheritance among LOF carriers, including 9 confirmed de novo variants in both novel and newly described human CVM candidate genes (ACVR1, JARID2, NR2F2, PLRG1, SMURF1) as well as established syndromic CVM genes (KMT2D, NF1, TBX20, ZEB2). We also identified two genes (DNAH5, OFD1) with evidence of recessive and hemizygous inheritance patterns, respectively. Within our clinical cohort, we also observed heterozygous LOF variants in JARID2 and SMAD1 in individuals with cardiac phenotypes, and collectively, carriers of LOF variants in our candidate genes had a four times higher odds of having CVM (odds ratio = 4.0, 95% confidence interval 2.5-6.5). Our analytical strategy highlights the utility of bioinformatic resources, including human disease records and model organism phenotyping, in novel gene

  13. Whole exome sequencing in 342 congenital cardiac left sided lesion cases reveals extensive genetic heterogeneity and complex inheritance patterns

    Directory of Open Access Journals (Sweden)

    Alexander H. Li

    2017-10-01

    Full Text Available Abstract Background Left-sided lesions (LSLs account for an important fraction of severe congenital cardiovascular malformations (CVMs. The genetic contributions to LSLs are complex, and the mutations that cause these malformations span several diverse biological signaling pathways: TGFB, NOTCH, SHH, and more. Here, we use whole exome sequence data generated in 342 LSL cases to identify likely damaging variants in putative candidate CVM genes. Methods Using a series of bioinformatics filters, we focused on genes harboring population-rare, putative loss-of-function (LOF, and predicted damaging variants in 1760 CVM candidate genes constructed a priori from the literature and model organism databases. Gene variants that were not observed in a comparably sequenced control dataset of 5492 samples without severe CVM were then subjected to targeted validation in cases and parents. Whole exome sequencing data from 4593 individuals referred for clinical sequencing were used to bolster evidence for the role of candidate genes in CVMs and LSLs. Results Our analyses revealed 28 candidate variants in 27 genes, including 17 genes not previously associated with a human CVM disorder, and revealed diverse patterns of inheritance among LOF carriers, including 9 confirmed de novo variants in both novel and newly described human CVM candidate genes (ACVR1, JARID2, NR2F2, PLRG1, SMURF1 as well as established syndromic CVM genes (KMT2D, NF1, TBX20, ZEB2. We also identified two genes (DNAH5, OFD1 with evidence of recessive and hemizygous inheritance patterns, respectively. Within our clinical cohort, we also observed heterozygous LOF variants in JARID2 and SMAD1 in individuals with cardiac phenotypes, and collectively, carriers of LOF variants in our candidate genes had a four times higher odds of having CVM (odds ratio = 4.0, 95% confidence interval 2.5–6.5. Conclusions Our analytical strategy highlights the utility of bioinformatic resources, including human

  14. A Case of Intractable Left Forearm Congenital Arteriovenous Fistula Ending with Amputation: Importance of New Medical Information Obtained via the Internet.

    Science.gov (United States)

    Liu, Jiajia; Shimada, Yasuyuki

    2014-01-01

    The aim of the present study was to consider the importance of medical information obtained via the Internet for difficult cases in hospitals, especially in those located in rural areas. We report here a case of congenital arteriovenous fistula (AVF) in the upper extremities. A 30-year-old lady was transported to our hospital by ambulance due to massive bleeding in her left hand. She was seen by our current cardiovascular surgery team for the first time, although she had been diagnosed with congenital AVF of the left arm 9 years previously. Because it was asymptomatic, she was followed up by observation. During 5 years of observation, symptoms such as cyanosis, pain, and refractory ulcers gradually developed. When she was 26 years old, she was referred to a university hospital in Akita, but surgery had already been judged to be impossible. When she was 30 years old, traumatic bleeding in her left hand and hemorrhagic shock led her to be taken to our hospital by ambulance. Using the Internet, we found an institution that had treated a large number of cases of AVF. After controlling the bleeding, we referred her to that institution. However, she could not be treated without an above-elbow amputation. Congenital AVF in the upper extremities is a rare vascular anomaly and has been generally accepted to be an extremely difficult disease to treat. Treatment should be started as early as possible before the presence of any symptoms. When a specialist is not available near the hospital, precise information must be found using the Internet and the patient should be referred without any delay.

  15. Validation of 3D echocardiographic assessment of left ventricular volumes, mass, and ejection fraction in neonates and infants with congenital heart disease: a comparison study with cardiac MRI.

    Science.gov (United States)

    Friedberg, Mark K; Su, Xioahong; Tworetzky, Wayne; Soriano, Brian D; Powell, Andrew J; Marx, Gerald R

    2010-11-01

    quantitative assessment and validation of left ventricular (LV) volumes and mass in neonates and infants with complex congenital heart disease (CHD) is important for clinical management but has not been undertaken. We compared matrix-array 3D echocardiography (3D echo) measurements of volumes, mass, and ejection fraction (EF) with those measured by cardiac MRI in young patients with CHD and small LVs because of either young age or LV hypoplasia. thirty-five patients aged LVs (age appropriate or hypoplastic), matrix-array 3D echo measurements of mass and volumes compare well with MRI, providing an important modality for ventricular size and performance analysis in these patients, particularly in those with left-side heart obstructive lesions.

  16. A valid treatment option for isolated congenital microgastria

    African Journals Online (AJOL)

    4 Sharma SC, Menon P. Congenital microgastria with esophageal stenosis and diaphragmatic hernia. Pediatr Surg Int 2005; 21:292–294. 5 Herman TE, Siegel MJ. Imaging casebook. Asplenia syndrome with congenital microgastria and malrotation. J Perinatol 2004; 24:50–52. 6 Menon P, Rao KL, Cutinha HP, Thapa BR, ...

  17. Neonatal septum transversum diaphragmatic defects

    International Nuclear Information System (INIS)

    Wesselhoeft, C.W. Jr.; DeLuca, F.G.

    1984-01-01

    Over 10 years, 8 infants required surgery for central diaphragmatic herniation. Contrast peritoneography and technetium-99m-sulfur colloid radionuclide scanning were the most definitive diagnostic aids. Associated anomalies included variations of the pentalogy of Cantrell. A midline gastroduodenal loop was found in two infants. Six infants are alive and well 6 months to 3 years postoperatively. An abdominal approach is preferred if there is an intestinal hernia, associated gastrointestinal anomalies, or if a bilateral defect is present

  18. Neonatal septum transversum diaphragmatic defects

    Energy Technology Data Exchange (ETDEWEB)

    Wesselhoeft, C.W. Jr.; DeLuca, F.G.

    1984-04-01

    Over 10 years, 8 infants required surgery for central diaphragmatic herniation. Contrast peritoneography and technetium-99m-sulfur colloid radionuclide scanning were the most definitive diagnostic aids. Associated anomalies included variations of the pentalogy of Cantrell. A midline gastroduodenal loop was found in two infants. Six infants are alive and well 6 months to 3 years postoperatively. An abdominal approach is preferred if there is an intestinal hernia, associated gastrointestinal anomalies, or if a bilateral defect is present.

  19. Comorbidity between Klinefelter syndrome and diaphragmatic hernia. A case report

    Directory of Open Access Journals (Sweden)

    Carolina Melendez Valdez

    Full Text Available CONTEXT: Intrathoracic cystic lesions have been diagnosed in a wide variety of age groups, and the increasing use of prenatal imaging studies has allowed detection of these defects even in utero.CASE REPORT: A 17-year-old pregnant woman in her second gestation, at 23 weeks of pregnancy, presented an ultrasound with evidence of a cystic anechoic image in the fet al left hemithorax. A morphological ultrasound examination performed at the hospital found that this cystic image measured 3.7 cm x 2.1 cm x 1.6 cm. Polyhydramnios was also present. At this time, the hypothesis of cystic adenomatoid malformation was raised. Fet al echocardiography showed only a dextroposed heart. Fet al magnetic resonance imaging produced an image compatible with a left diaphragmatic hernia containing the stomach and at least the first and second portions of the duodenum, left lobe of the liver, spleen, small intestine segments and portions of the colon. The stomach was greatly distended and the heart was shifted to the right. There was severe volume reduction of the left lung. Fet al karyotyping showed the chromosomal constitution of 47,XXY, compatible with Klinefelter syndrome. In our review of the literature, we found only one case of association between Klinefelter syndrome and diaphragmatic hernia.CONCLUSIONS: We believe that the association observed in this case was merely coincidental, since both conditions are relatively common. The chance of both events occurring simultaneously is estimated to be 1 in 1.5 million births.

  20. Late diagnosed congenital agenesis of the left lung in 15-year-old boy

    OpenAIRE

    Majka Jaszczura; Magdalena Kleszyk; Karolina Bień; Edyta Machura

    2017-01-01

    Pulmonary agenesis is a rare congenital lung defect involving the complete absence of the primary bronchus as well as pulmonary parenchyma and vessels. Unilateral agenesis occurs at the rate of 1/10,000–20,000 pregnancies. The cause of this defect is still unknown. This abnormality does not cause any specific symptoms; it may lead to respiratory failure, but an asymptomatic course lasting many years is also possible. This defect can often be suspected based on a chest radiograph p...

  1. Diaphragmatic Hernia Masquerading as Pleural Effusion

    African Journals Online (AJOL)

    Diaphragmatic injuries result from either blunt or penetrating trauma. They are usually associated with thoraco-abdominal trauma, but may rarely occur in isolation. Acute traumatic rupture of the diaphragm may go unnoticed and there may be a delay between the injury and diagnosis. As many as 30% of diaphragmatic ...

  2. Congenital Constrictions

    OpenAIRE

    K Pavithran; Ramachandran Nair

    1984-01-01

    A young man having congenital annular constrictions of the legs with lymph-oedema of the left foot below the constriction, webbing of the fingers of both hands, anonychia of two fingers and intrauterine amputation of terminal phalanges of two finger and one big toe is reported.

  3. Congenital Constrictions

    Directory of Open Access Journals (Sweden)

    K Pavithran

    1984-01-01

    Full Text Available A young man having congenital annular constrictions of the legs with lymph-oedema of the left foot below the constriction, webbing of the fingers of both hands, anonychia of two fingers and intrauterine amputation of terminal phalanges of two finger and one big toe is reported.

  4. Congenital pulmonary steal associated with Tetralogy of Fallot, right aortic arch and an isolated left carotid artery

    Energy Technology Data Exchange (ETDEWEB)

    Tozzi, R.; Kiley, R.; Doyle, E.; Hernanz-Schulman, M.; Genieser, N.; Ambrosino, M.; Pinto, R.

    1989-07-01

    In patients with Tetralogy of Fallot, collateral supply to the pulmonary artery from systemic arterial sources is frequently encountered. However, collateral blood flow arising from the cerebral circulation has, to our knowledge, not been reported in this condition. We describe a patient with Tetralogy of Fallot in whom the left pulmonary artery filled directly via retrograde flow from the left carotid artery. Review of the literature in search of a similar case was unrevealing. A theoretical embryologic basis for this anomaly is discussed. (orig.).

  5. Congenital pulmonary steal associated with Tetralogy of Fallot, right aortic arch and an isolated left carotid artery

    International Nuclear Information System (INIS)

    Tozzi, R.; Kiley, R.; Doyle, E.; Hernanz-Schulman, M.; Genieser, N.; Ambrosino, M.; Pinto, R.

    1989-01-01

    In patients with Tetralogy of Fallot, collateral supply to the pulmonary artery from systemic arterial sources is frequently encountered. However, collateral blood flow arising from the cerebral circulation has, to our knowledge, not been reported in this condition. We describe a patient with Tetralogy of Fallot in whom the left pulmonary artery filled directly via retrograde flow from the left carotid artery. Review of the literature in search of a similar case was unrevealing. A theoretical embryologic basis for this anomaly is discussed. (orig.)

  6. Assessment of congenital heart disease by a thallium-201 SPECT study in children; Accuracy of estimated right to left ventricular pressure ratio

    Energy Technology Data Exchange (ETDEWEB)

    Ishii, Iwao; Nakajima, Kenichi; Taki, Junichi; Taniguchi, Mitsuru; Bunko, Hisashi; Tonami, Norihisa; Hisada, Kinichi; Ohno, Takashi (Kanazawa Univ. (Japan). School of Medicine)

    1993-01-01

    The characteristics of correlation between the right-to-left ventricular systolic pressure ratios (RVp/LVp) and the thallium-201 right-to-left ventricular ([sup 201]Tl R/L) count ratios was investigated in children with various congenital heart diseases. High-resolution three-headed SPECT system equipped with either parallel-hole or fan-beam collimators was used. In a total of 102 patients, the correlation between RVp/LVp and [sup 201]Tl R/L average count ratios was good in both planar (r=0.89, p=0.0001) and SPECT studies (r=0.80, p=0.0001). Quantitative analysis of myocardial uptake by SPECT demonstrated the characteristic pattern of each disease as well as the differences in the right ventricular overload types. When the linear regression analysis was performed in each heart disease, ventricular septal defect showed most excellent correlation. Complex heart anomalies also showed positive correlation (r=0.51, p=0.05) with RVp/LVp, and it can be used to estimate right ventricular pressure. After surgical treatment of tetralogy of Fallot and pulmonary stenosis, the decrease of [sup 201]Tl R/L count ratio was in accordance with improvement of right ventricular overload. We conclude that [sup 201]Tl SPECT study can be a good indicator for estimation of right ventricular pressure. (author).

  7. Congenital retrosternal hernias of Morgagni: Manifestation and treatment in children

    Directory of Open Access Journals (Sweden)

    Oleksii Slepov

    2016-01-01

    Full Text Available Background: Due to scarcity of congenital diaphragmatic hearnias of Morgagni (CDHM, non-specific clinical presentation in the pediatric age group, we aimed to investigate the incidence, clinical manifestations, anatomical characteristics, and develop diagnostic algorithm and treatment of CDHM in children. Materials and Methods: The patients′ records of children with CDHM treated in our hospital during past 20 years were retrospectively reviewed for the age at diagnosis, gender, clinical findings, anatomical features, operative details and outcome. Results: Since 1995 to 2014 we observed 6 (3 boys, 3 girls patients with CDHM, that comprise 3.2% of all congenital diaphragmatic hernia cases (n = 185. Age at diagnosis varied from 3 mo. to 10y.o. Failure to thrive was main symptom in 4 patients, followed by recurrent respiratory infections (n = 3, dyspnea (n = 3, and gastrointestinal manifestations: constipation (n = 2, abdominal pain (n = 1. Work-up consisted of plain X-ray for all (n = 6, upper GI (n = 3, barium enema (n = 2, sonography (n = 6 and CT (n = 2. Abdominal approach used in 5 patients, and thoracotomy in one. Herniated contents were: liver lobes (n = 4, transverse colon (n = 3 and greater omentum (n = 1. 5 had right-sided lesion, 1- left-sided. Defect repaired using local tissues. Post-operative course was uneventful; all patients appeared well during follow-up. Conclusion: CDHM is very uncommon anomaly, very occasionally diagnosed at the early age. Failure to thrive and recurrent respiratory infections are most frequent clinical manifestations. In suspected CDHM we advocate the following work-up: plain chest and abdominal X-ray, contrast study (upper GI series or barium enema, ultrasonographic screen and CT scan. Surgical repair via abdominal approach, using local tissues and hernia sac removal is preferred.

  8. Complications Associated With Implantable Cardioverter Defibrillators in Adults With Congenital Heart Disease or Left Ventricular Noncompaction Cardiomyopathy (From the NCDR®Implantable Cardioverter-Defibrillator Registry).

    Science.gov (United States)

    Gleva, Marye J; Wang, Yongfei; Curtis, Jeptha P; Berul, Charles I; Huddleston, Charles B; Poole, Jeanne E

    2017-11-15

    Patients with childhood heart disease are living longer and entering adulthood, and may undergo implantable cardioverter-defibrillator (ICD) implantation to reduce the risk of sudden death. We evaluated the characteristics of adult patients with congenital heart disease or left ventricular noncompaction cardiomyopathy (LVNC) in the National Cardiovascular Disease Registry ICD Registry and determined ICD-related in-hospital complications. Patients with LVNC or transposition of the great arteries, tetralogy of Fallot, Ebstein's anomaly, atrial septal defect, ventricular septal defect, or common ventricle were identified in the registry. In-hospital complications were compared among different diagnoses using the chi-square test for categorical variables and the F-test in analyses of variance for continuous variables. A total of 3,077 patients were identified. The mean age was 48.0 ± 16.0 years, and 39.9% were female. Single-chamber ICDs were implanted in 25.2%, dual chamber in 41.9%, and cardiac resynchronization in 30.8%. Intraprocedural or postprocedural complications occurred in 70 patients (2.3%); there were 6 in-hospital deaths (0.2%). The most frequent complications were acute lead dislodgments, pneumothorax, and hematomas. Patients with Ebstein's anomaly had the greatest complication rate (8.3%, p = 0.03). The complication rate was 1.55% in single-chamber devices, 1.86% in dual chamber, and 3.5% in cardiac resynchronization (p < 0.001). For initial implants, the complication rate was 2.55%, 1.62% in generator replacements, and 8.77% in lead revisions (p = 0.001). In conclusion, in this large contemporary adult cohort of congenital heart disease and LVNC patients who underwent ICD implant procedures, periprocedural complication rates were low. Lead-related risks predominated. Copyright © 2017 Elsevier Inc. All rights reserved.

  9. Incidence of Persistent Left Superior Vena Cava in the Normal Population and in Patients with Congenital Heart Diseases Detected Using Echocardiography.

    Science.gov (United States)

    Nagasawa, Hiroyuki; Kuwabara, Naoki; Goto, Hiroko; Omoya, Kentarou; Yamamoto, Tetsuya; Terazawa, Atsushi; Kohno, Yoshinori; Kuwahara, Takashi

    2018-03-01

    Reports on the incidence of persistent left superior vena cava (PLSVC) in the normal population are limited to studies involving pacemaker implantation candidates and cadavers. The incidence in patients with congenital heart diseases (CHDs) is estimated to be higher than that in the normal population; however, the details are unclear. To investigate the incidence of PLSVC in the normal population and in patients with CHDs, subjects were examined prospectively using echocardiography. Normal subjects consisted of 2841 successive neonates without intra-cardiac or congenital anomalies born in Gifu Prefectural General Medical Center. Additionally, 1920 patients with CHDs were evaluated. The incidence of PLSVC in normal neonates was 0.21% (95% confidence interval 0.042-0.38%). A high incidence (more than 7.0 times the incidence in normal subjects) was observed in all CHD patients. The high incidence group included coarctation of the aorta (CoA) (23.7%) and double outlet right ventricle (DORV) patients (24.6%). The second group consisted of CHD patients with ventricular septal defect (VSD), with an incidence ranging from 5.1 to 6.1%. The low incidence group comprised patients with other CHDs, with an incidence between 1.5 and 3.1%. The incidence of PLSVC in trisomy 21 and atrial septal defect patients was significantly higher than that in normal neonates. The incidence of PLSVC in the normal population and in patients with CHDs was systematically evaluated for the first time. The incidence in CHD patients appeared to be positively influenced by the type of CHD, particularly by DORV, CoA, and VSD.

  10. Mutations in zebrafish pitx2 model congenital malformations in Axenfeld-Rieger syndrome but do not disrupt left-right placement of visceral organs.

    Science.gov (United States)

    Ji, Yongchang; Buel, Sharleen M; Amack, Jeffrey D

    2016-08-01

    Pitx2 is a conserved homeodomain transcription factor that has multiple functions during embryonic development. Mutations in human PITX2 cause autosomal dominant Axenfeld-Rieger syndrome (ARS), characterized by congenital eye and tooth malformations. Pitx2(-/-) knockout mouse models recapitulate aspects of ARS, but are embryonic lethal. To date, ARS treatments remain limited to managing individual symptoms due to an incomplete understanding of PITX2 function. In addition to regulating eye and tooth development, Pitx2 is a target of a conserved Nodal (TGFβ) signaling pathway that mediates left-right (LR) asymmetry of visceral organs. Based on its highly conserved asymmetric expression domain, the Nodal-Pitx2 axis has long been considered a common denominator of LR development in vertebrate embryos. However, functions of Pitx2 during asymmetric organ morphogenesis are not well understood. To gain new insight into Pitx2 function we used genome editing to create mutations in the zebrafish pitx2 gene. Mutations in the pitx2 homeodomain caused phenotypes reminiscent of ARS, including aberrant development of the cornea and anterior chamber of the eye and reduced or absent teeth. Intriguingly, LR asymmetric looping of the heart and gut was normal in pitx2 mutants. These results suggest conserved roles for Pitx2 in eye and tooth development and indicate Pitx2 is not required for asymmetric looping of zebrafish visceral organs. This work establishes zebrafish pitx2 mutants as a new animal model for investigating mechanisms underlying congenital malformations in ARS and high-throughput drug screening for ARS therapeutics. Additionally, pitx2 mutants present a unique opportunity to identify new genes involved in vertebrate LR patterning. We show Nodal signaling-independent of Pitx2-controls asymmetric expression of the fatty acid elongase elovl6 in zebrafish, pointing to a potential novel pathway during LR organogenesis. Copyright © 2016 Elsevier Inc. All rights reserved.

  11. Delayed Diaphragmatic Herniation Masquerading as a Complicated Parapneumonic Effusion

    Directory of Open Access Journals (Sweden)

    John Tsang

    1999-01-01

    Full Text Available Injury to the diaphragm following blunt or penetrating thoraco-abdominal trauma is not uncommon. Recognition of this important complication of trauma continues to be a challenge because of the lack of specific clinical and plain radiographic features, the frequent presence of other serious injuries and the potential for delayed presentation. Delayed diaphragmatic herniation often presents with catastrophic bowel obstruction or strangulation. Early recognition of diaphragmatic injury is required to avoid this potentially lethal complication. The case of a 35-year-old man with a history of a knife wound to the left flank 15 years previously, who presented with unexplained acute hypoxemic respiratory failure and a unilateral exudative pleural effusion that was refractory to tube thoracostomy drainage, is reported. After admission to hospital, he developed gross dilation of his colon; emergency laparotomy revealed an incarcerated colonic herniation into the left hemithorax. Interesting clinical features of this patient's case included the patient's hobby of weightlifting, a persistently deviated mediastinum despite drainage of the pleural effusion and deceptive pleural fluid biochemical indices.

  12. Difficult weaning in delayed onset diaphragmatic hernia

    Directory of Open Access Journals (Sweden)

    Ahmed Syed

    2009-01-01

    Full Text Available Diaphragmatic injuries are relatively rare and result from either blunt or penetrating trauma. Regardless of the mechanism, diagnosis is often missed and high index of suspicion is vital. The clinical signs associated with a diaphragmatic hernia can range from no outward signs to immediately life-threatening respiratory compromise. Establishing the clinical diagnosis of diaphragmatic injuries (DI can be challenging as it is often clinically occult. Accurate diagnosis is critical since missed DI may result in grave sequelae due to herniation and strangulation of displaced intra-abdominal organs. We present a case of polytrauma with rib fracture and delayed appearance of diaphragmatic hernia manifesting as difficult weaning from ventilatory support.

  13. Endometriosis-related spontaneous diaphragmatic rupture.

    Science.gov (United States)

    Triponez, Frédéric; Alifano, Marco; Bobbio, Antonio; Regnard, Jean-François

    2010-10-01

    Non-traumatic, spontaneous diaphragmatic rupture is a rare event whose pathophysiology is not known. We report the case of endometriosis-related spontaneous rupture of the right diaphragm with intrathoracic herniation of the liver, gallbladder and colon. We hypothesize that the invasiveness of endometriotic tissue caused diaphragm fragility, which finally lead to its complete rupture without traumatic event. The treatment consisted of a classical management of diaphragmatic rupture, with excision of the endometriotic nodule followed by medical ovarian suppression for six months.

  14. Peritoneopericardial diaphragmatic hernia in cats

    International Nuclear Information System (INIS)

    Neiger, R.

    1996-01-01

    Peritoneopericardial diaphragmatic hernia in a cat is often an incidental finding on a routine thoracic or abdominal radiograph. Clinical signs are nonspecific-usually respiratory (dyspnea) or gastrointestinal(vomiting or diarrhea). Some of the cats with this anomaly are asymptomatic. The physical examination may be normal: muffled heart sounds are the most common abnormality noted during a physical examination. Cats of many breeds are affected, although 26% of reported cases were inPersians. Age of the cat at diagnosis ranged from 6 days to 14 years. Thirty of the 52 reported cases were in females. Diagnostic studies used to confirm the diagnosis included echocardiography, upper gastrointestinal study, ultrasonography, angiography, positive-contrast peritoneography, and laparotomy. Surgical correction was reportedly successful in 22 of 25 cats

  15. Age is not a good predictor of irreversibility of pulmonary hypertension in congenital cardiac malformations with left-to-right shunt.

    Science.gov (United States)

    Hosseinpour, Amir-Reza; Perez, Marie-Hélène; Longchamp, David; Cotting, Jacques; Sekarski, Nicole; Hurni, Michel; Prêtre, René; Di Bernardo, Stefano

    2018-03-01

    Congenital cardiac malformations with high pulmonary blood flow and pressure due to left-to-right shunts are usually repaired in early infancy for both the benefits of early relief of heart failure and the fear that the concomitant pulmonary hypertension may become irreversible unless these defects are corrected at an early age. Age, however, has been a poor predictor of irreversibility of pulmonary hypertension in our experience, which is presented here. A retrospective observational study. We defined "late" as age ≥2 years. We examined clinical, echocardiographic, and hemodynamic data from all patients aged ≥2 years with such malformations referred to us from 2004 untill 2015. Department of Pediatric Cardiology and Cardiac Surgery, University Hospital of Vaud, Lausanne, Switzerland. There were 39 patients, aged 2-35 years (median: 5 years), without chromosomal abnormalities. All had malformations amenable to biventricular repair, and all had high systolic right ventricular pressures by echocardiography prior to referral. All patients underwent catheterization for assessment of pulmonary hypertension. If this was reversible, surgical correction was offered. (1) Operability based on reversibility of pulmonary hypertension. (2) When surgery was offered, mortality and evidence of persisting postoperative pulmonary hypertension were examined. Eighteen patients had no pulmonary hypertension, 5 of variable ages were inoperable due to irreversible pulmonary hypertension, and 16 had reversible pulmonary hypertension. Therefore, 34 patients underwent corrective surgery, with no immediate or late mortality. Pulmonary arterial and right ventricular pressures decreased noticeably in all operated patients. This is sustained to date; they are all asymptomatic with no echocardiographic evidence of pulmonary hypertension at a median follow-up of 7 years (range 2-13 years). Pulmonary hypertension may still be reversible in many surprisingly old patients with left

  16. Parents' perceptions during the transition to home for their child with a congenital heart defect: How can we support families of children with hypoplastic left heart syndrome?

    Science.gov (United States)

    March, Sarita

    2017-07-01

    The aim of the study was to explore the literature related to transitions in healthcare between the hospital and home that caregivers experience with a child who has a congenital heart defect (CHD), specifically related to hypoplastic left heart syndrome (HLHS). A systematic literature review was conducted searching OVID Medline, CINAHL, and PubMed to discover the caregivers' perceptions on their transitions between hospital care and home care of their child with a CHD. Articles included those with focus on the transitions of caregivers between hospital and home care for children with CHD. Excluded articles were studies focused on adolescents, transition to adult healthcare, mortality results, other diseases associated with CHDs, comparison of CHD treatments, feasibility studies, differences in care between hospitals, home monitoring, and comparison of videoconference and telephone home communication. Ten articles were selected. Many parents voiced their concerns with feeding their child, learning medical skills and knowledge, reported a disrupted relationship between parents and their child, and identified stress and anxiety associated with taking care of a child with a CHD. There were limited studies on caregivers' transitions with a child with HLHS, but there also was limited focus on the caregivers' experiences with transitions between hospital and home care for their child with any CHD. Research on the transition experience between hospital care and home care for caregivers of children born with a CHD, and a specific focus on HLHS from the caregivers' viewpoint, would provide insight into the perspective of caregivers during the numerous transitions. © 2017 Wiley Periodicals, Inc.

  17. Congenital diplopodia

    International Nuclear Information System (INIS)

    Brower, Jason S.; Wootton-Gorges, Sandra L.; Costouros, John G.; Boakes, Jennette; Greenspan, Adam

    2003-01-01

    Diplopodia, or duplicated foot, is a rare congenital anomaly. It differs from polydactyly in that supernumerary metatarsal and tarsal bones are present as well as extra digits. Only a few cases of this anomaly have been reported in the literature to date. We present a newborn male without intrauterine teratogen exposure who was born with a duplicate foot of the left lower extremity and imperforate anus. (orig.)

  18. Diagnosis of congenital cystic adenomatoid malformation of the lung in newborn infants and children

    NARCIS (Netherlands)

    Heij, H. A.; Ekkelkamp, S.; Vos, A.

    1990-01-01

    Seventeen patients were diagnosed as having congenital cystic adenomatoid malformation of the lung during 1970-88. One case was associated with congenital diaphragmatic hernia and the child died before operation. The other 16 children underwent successful surgery. The patients presented in one of

  19. Congenital Morgagni's hernia: a national multicenter study.

    Science.gov (United States)

    Al-Salem, Ahmed H; Zamakhshary, Mohammed; Al Mohaidly, Mohammed; Al-Qahtani, Aayed; Abdulla, Mohamed Ramadan; Naga, Mohamed Ibrahim

    2014-04-01

    Congenital Morgagni's hernia (CMH) is rare and represents less than 5% of all congenital diaphragmatic hernias. This is a national review of our experience with CMH outlining clinical presentation, methods of diagnosis, associated anomalies, treatment, and outcome. The medical records of all patients with the diagnosis of CMH treated at four pediatric surgery units in Saudi Arabia were retrospectively reviewed for age at diagnosis, sex, presenting symptoms, associated anomalies, diagnosis, operative findings, treatment, and outcome. During a 20-year period (January 1990-December 2010), 53 infants and children with CMH were treated. There were 38 males and 15 females. Their age at diagnosis ranged from 1 month to 9 years (mean 22.2 months). Forty-three (81%) presented with recurrent chest infection. Twenty-two (44.5%) had right CMH, 15 (28.3%) had left-sided hernia and 16 (30.2%) had bilateral hernia. In 7, the diagnosis of bilaterality was made at the time of surgery. Associated anomalies were seen in 38 (71.7%). Twenty-one (39.6%) had congenital heart disease, 8 (15%) had malrotation, and 15 (28.3%) had Down syndrome. All were operated on. Twenty-nine (54.7%) underwent repair via an open approach. The remaining 24 (45.3%) underwent repair using minimal invasive surgery, laparoscopic-assisted hernia repair (19 patients) or totally laparoscopic approach (5 patients). At the time of surgery, the hernia sac content included the colon in 33 (62.3%), part of the left lobe of the liver in 13 (24.5%), the small intestines in 11 (20.75%), the omentum in 5 (9.4%), and the stomach in 4 (7.5%). In 12 (22.6%), the hernia sac was empty. When compared to the open repair, the laparoscopic-assisted approach was associated with a shorter operative time, an earlier commencement of feeds, less requirement for postoperative analgesia, a shorter hospital stay, and better cosmetic appearance. There was no mortality. On follow-up, 2 (7%) of the open surgical group developed recurrence

  20. Validity and reliability of fluoroscopy for digital radiography: a new way to evaluate diaphragmatic mobility.

    Science.gov (United States)

    Leal, Bruna Estima; Gonçalves, Márcia Aparecida; Lisboa, Liseane Gonçalves; Linné, Larissa Martins Schmitz; Tavares, Michelle Gonçalves de Souza; Yamaguti, Wellington Pereira; Paulin, Elaine

    2017-04-17

    Fluoroscopy is considered the most accurate method to evaluate the diaphragm, yet most existing methods for measuring diaphragmatic mobility using fluoroscopy are complex. To assess the validity and reliability of a new evaluation method of diaphragmatic motion using fluoroscopy by digital radiography of healthy adults. Twenty-six adults were evaluated, according to the parameters: anthropometry and pulmonary function test. The evaluation of diaphragm mobility by means of fluoroscopy by digital radiography method was randomly conducted by two raters (A and B). The Pearson correlation coefficient and the intraclass correlation coefficient (ICC) were used to assess the concurrent validity. The inter-rater and intra-rater reliability of the measurement of diaphragmatic motion was determined using ICC and a confidence interval of 95%. There was a relationship in the assessment of the concurrent validity. There was good inter-rater reliability for right hemidiaphragm mobility and moderate reliability for left hemidiaphragm in the first assessment. In the second assessment, there was good reliability for the mobility of both hemidiaphragms. There was good intra-rater reliability in the mobility of both hemidiaphragms for raters A and B. The evaluation of diaphragmatic motion using fluoroscopy by digital radiography proved to be a valid and reliable method of healthy adults.

  1. Congenital diaphragmatic hernia candidate genes derived from embryonic transcriptomes

    DEFF Research Database (Denmark)

    Russell, Meaghan K; Longoni, Mauro; Wells, Julie

    2012-01-01

    expression profiling of developing embryonic diaphragms would help identify genes likely to be associated with diaphragm defects. We generated a time series of whole-transcriptome expression profiles from laser captured embryonic mouse diaphragms at embryonic day (E)11.5 and E12.5 when experimental...... perturbations lead to CDH phenotypes, and E16.5 when the diaphragm is fully formed. Gene sets defining biologically relevant pathways and temporal expression trends were identified by using a series of bioinformatic algorithms. These developmental sets were then compared with a manually curated list of genes...... previously shown to cause diaphragm defects in humans and in mouse models. Our integrative filtering strategy identified 27 candidates for CDH. We examined the diaphragms of knockout mice for one of the candidate genes, pre-B-cell leukemia transcription factor 1 (Pbx1), and identified a range of previously...

  2. Early versus late surgical correction in congenital diaphragmatic hernia

    Directory of Open Access Journals (Sweden)

    Alexandra Yunes

    2017-11-01

    Full Text Available Resumen INTRODUCCIÓN El momento de la reparación quirúrgica en pacientes con hernia diafragmática congénita ha sido un tema controvertido a lo largo de los años, y aún no existe un acuerdo sobre si es preferible una reparación inmediata o una cirugía tardía con estabilización preoperatoria. MÉTODOS Para responder esta pregunta utilizamos Epistemonikos, la mayor base de datos de revisiones sistemáticas en salud, la cual es mantenida mediante búsquedas en múltiples fuentes de información, incluyendo MEDLINE, EMBASE, Cochrane, entre otras. Extrajimos los datos desde las revisiones identificadas, reanalizamos los datos de los estudios primarios, realizamos un metanálisis, preparamos tablas de resumen de los resultados utilizando el método GRADE. RESULTADOS Y CONCLUSIONES Identificamos cuatro revisiones sistemáticas que en conjunto incluyen 38 estudios primarios, de los cuales, dos son ensayos aleatorizados. Concluimos que no está claro si la reparación quirúrgica inmediata en hernia diafragmática congénita aumenta la mortalidad o disminuye los días de hospitalización en comparación a una reparación tardía porque la certeza de la evidencia es muy baja.

  3. [A right-sided congenital diaphragmatic hernia masked by pneumonia

    NARCIS (Netherlands)

    Morsing, I.E.; Mol, A.C. de; Heijst, A.F.J. van; Staak, F.H.J.M. van der; Daalen, S.T. van; Liem, K.D.

    2008-01-01

    A 1-day-old premature newborn (34 weeks and 6 days) presented with respiratory insufficiency due to a group B haemolytic streptococcal (GBS) pneumonia. She recovered after temporary treatment with mechanical ventilation and antibiotics. At the time of discharge there was a slight increased fogging

  4. Left is right and right is wrong: Fluorodeoxyglucose uptake in left hemi-diaphragm due to right phrenic nerve palsy.

    Science.gov (United States)

    Joshi, Prathamesh; Lele, Vikram

    2013-01-01

    A 36-year-old Indian man, a recently diagnosed case of the right lung carcinoma underwent fluorodeoxyglucose positron emission tomography-computed tomography (FDG PET/CT) for staging of the malignancy. PET/CT showed increased FDG uptake in the right lung mass, consistent with the known primary tumor. Right hemidiaphragm was found to be elevated on CT, suggesting right diaphragmatic paresis. The PET scan demonstrated asymmetric, intense FDG uptake in the left hemidiaphragm and accessory muscles of respiration, which was possibly due to compensatory increased workload related to contralateral right diaphragmatic paresis. The right diaphragmatic paresis was hypothesized to be caused by phrenic nerve palsy by right lung neoplasm.

  5. Imaging of diaphragmatic rupture after trauma

    International Nuclear Information System (INIS)

    Eren, S.; Kantarci, M.; Okur, A.

    2006-01-01

    Traumatic rupture of the diaphragm usually results from blunt or penetrating injuries, or iatrogenic causes. Most cases are initially overlooked in the acute phase because they present with variable clinical and radiological signs. An overlooked diaphragmatic injury presents as a hernia many years later with potentially serious complications, therefore selection of the most appropriate radiological technique and accurate diagnosis of traumatic diaphragmatic hernias (DH) on the first admission is important. Although the diagnosis of diaphragmatic injuries is problematic, various investigations may be used for diagnosis. We describe the imaging findings of 19 traumatic DH cases with various imaging techniques. The patients were acute trauma cases or cases with prior trauma or thoraco-abdominal surgery with clinical suspicion of DH. An evaluation of the imaging techniques used in the diagnosis of DH is presented

  6. Imaging of diaphragmatic rupture after trauma

    Energy Technology Data Exchange (ETDEWEB)

    Eren, S. [Department of Radiology, Faculty of Medicine, Atatuerk University, Erzurum (Turkey)]. E-mail: suateren@atauni.edu.tr; Kantarci, M. [Department of Radiology, Faculty of Medicine, Atatuerk University, Erzurum (Turkey); Okur, A. [Department of Radiology, Faculty of Medicine, Atatuerk University, Erzurum (Turkey)

    2006-06-15

    Traumatic rupture of the diaphragm usually results from blunt or penetrating injuries, or iatrogenic causes. Most cases are initially overlooked in the acute phase because they present with variable clinical and radiological signs. An overlooked diaphragmatic injury presents as a hernia many years later with potentially serious complications, therefore selection of the most appropriate radiological technique and accurate diagnosis of traumatic diaphragmatic hernias (DH) on the first admission is important. Although the diagnosis of diaphragmatic injuries is problematic, various investigations may be used for diagnosis. We describe the imaging findings of 19 traumatic DH cases with various imaging techniques. The patients were acute trauma cases or cases with prior trauma or thoraco-abdominal surgery with clinical suspicion of DH. An evaluation of the imaging techniques used in the diagnosis of DH is presented.

  7. Diaphragmatic hernia in Denys-Drash syndrome

    Energy Technology Data Exchange (ETDEWEB)

    Devriendt, K.; Deloof, E.; Moerman, P. [Univ. Hospital, Leuven (Belgium)] [and others

    1995-05-22

    We report on a newborn infant with male pseudohermaphroditism and glomerular lesions (Denys-Drash syndrome) but without Wilms tumor. A constitutional heterozygous mutation in the WT1 gene ({sup 366} Arg to His) was identified. In addition the child had a large diaphragmatic hernia, so far not described in Denys-Drash syndrome. The expression of the WT1 gene in pleural and abdominal mesothelium and the occurrence of diaphragmatic hernia in transgenic mice with a homozygous WT1 deletion strongly suggests that the diphragmatic hernia in this patient is part of the malformation pattern caused by WT1 mutations. 21 refs., 4 figs.

  8. Case Report - Diaphragmatic eventration complicated by gastric ...

    African Journals Online (AJOL)

    Eventration of the diaphragm with gastric volvulus is uncommon. Gastric perforation in these cases is rare and usually associated with acute gastric volvulus with strangulation. We describe a case of diaphragmatic eventration with chronic gastric volvulus with gastric perforation without strangulation in an elderly man.

  9. Possible rare congenital dysinnervation disorder: congenital ptosis associated with adduction.

    Science.gov (United States)

    Mendes, Sílvia; Beselga, Diana; Campos, Sónia; Neves, Arminda; Campos, Joana; Carvalho, Sílvia; Silva, Eduardo; Castro Sousa, João Paulo

    2015-01-01

    Ptosis is defined as an abnormally low position of the upper eyelid margin. It can be congenital or acquired, uni or bilateral, and isolated or associated with other ocular and nonocular defects. We report a case of a female child, aged 8 years, with congenital right ptosis increased on right adduction and with left ptosis on left adduction. There was no horizontal ocular movement limitation. Apparent underaction of the right inferior oblique muscle was also present. We believe that within the possible mechanisms it is more likely that it is a congenital innervation dysgenesis syndrome (CID)/congenital cranial dysinnervation disorder (CCDD).

  10. Missed Diagnosis of a Delayed Diaphragmatic Hernia as Intestinal ...

    African Journals Online (AJOL)

    done. He had an uneventful recovery and follow up. There is the need to maintain high index of suspicion of Traumatic Diaphragmatic Hernia (TDH) in a patient with recent or previous thoraco-abdominal injury that will reduce the rate of missed or delayed diagnosis. Key words: penetrating chest injury, diaphragmatic hernia, ...

  11. Undiagnosed diaphragmatic hernia — the importance of preanesthetic evaluation

    OpenAIRE

    Ricco, Carolina H.; Graham, Lynelle

    2007-01-01

    A 6-year-old, neutered male, Pembroke Welsh corgi was presented for hind limb paralysis. After anesthetic induction, marked cyanosis and hypotension were noted. Diaphragmatic hernia was diagnosed based upon radiographic findings. Risks and complications associated with undiagnosed diaphragmatic hernia and the importance of thorough physical examination and patient assessment are discussed.

  12. Diaphragmatic surgery during primary cytoreduction for advanced ovarian cancer: peritoneal stripping versus diaphragmatic resection.

    Science.gov (United States)

    Zapardiel, Ignacio; Peiretti, Michele; Zanagnolo, Vanna; Biffi, Roberto; Bocciolone, Luca; Landoni, Fabio; Aletti, Giovanni; Colombo, Nicoletta; Maggioni, Angelo

    2011-12-01

    Standard approach for medically stable advanced ovarian cancer patients should be primary cytoreduction following platinum-based chemotherapy. The aim of surgical effort should be the complete removal of all visible disease. Our objective was to compare perioperative features, postoperative complications, and secondarily oncological outcomes of patients who underwent diaphragmatic stripping with those who underwent diaphragmatic resection for advanced ovarian cancer. One hundred twelve cases were identified, among them 79 underwent diaphragmatic stripping and 33 underwent diaphragmatic full-thickness resection. Data collected included patients' age, all perioperative details and pathological findings, International Federation of Gynecology and Obstetrics stage, adjuvant therapy, and follow-up data. Larger residual tumors (mean, 5.1 vs 1.6 mm, respectively; P < 0.01) but shorter operating time (25 minutes shorter operative time, P = 0.07) were observed in the stripping group. Higher postoperative pleural effusions rates (63.6% vs 37.9%, P = 0.01), but no differences in the remaining complications, were observed in the resection group. After a mean of 31 months of follow-up, disease-free survival rates were 27.8% in the stripping group and 39.4% in the resection group (P = 0.04). No significant differences were observed for overall survival. Diaphragmatic surgery at the time of primary cytoreductive surgery for advanced ovarian cancer may contribute to the achievement of complete cytoreduction with low perioperative complication rate; full-thickness resection is preferable if peritoneum stripping will not achieve a complete removal of the disease.

  13. Primary Diaphragmatic Dedifferentiated Liposarcoma in a Young Female Patient after Delivery

    Directory of Open Access Journals (Sweden)

    Shinya Sakata

    2016-01-01

    Full Text Available A 26-year-old woman was admitted with the chief complaint of chest pain. She had delivered her first child 9 months before admission. Computed tomography showed a bulky mass in her left chest, and histopathological analysis revealed it to be dedifferentiated liposarcoma. We initiated doxorubicin chemotherapy, and the tumor mass reduced. After that, we performed vascular embolization along with chemotherapy, but tumor size did not reduce. On the 160th day of illness, the patient died. This is the first report of a primary diaphragmatic dedifferentiated liposarcoma diagnosed after delivery. Establishment of a regimen of chemotherapy for bulky unresectable liposarcoma is necessary.

  14. Diaphragmatic cramp as a possible cause of noncardiac chest pain and referred mandibular pain.

    Science.gov (United States)

    Blows, W T

    1999-06-01

    The initial assumption that sudden acute chest pain may be of cardiac origin is justifiable, but when this proves not to be the case the patient is left with little explanation of the cause. It is suggested here that diaphragmatic cramp may be a cause of some undiagnosed noncardiac chest pains associated with mandibular referred pain. The phrenic nerve provides both motor and sensory innervation to the diaphragm, while the trigeminal nerve carries sensation from the mandibular teeth. Both nerves originate in separate nuclei close together in the lower medulla. Interconnections between these nuclei and others higher up in the brain may provide one explanation for this problem.

  15. Clinically relevant diaphragmatic dysfunction after cardiac operations.

    Science.gov (United States)

    Diehl, J L; Lofaso, F; Deleuze, P; Similowski, T; Lemaire, F; Brochard, L

    1994-02-01

    Phrenic nerve injury and diaphragmatic dysfunction can be induced by cardiac operation. The clinical consequences are not well-established. We evaluated 13 consecutive patients over a 2-year period with unexplained and prolonged difficulties in weaning from mechanical ventilation. The mean time of measurement from the operation day was 31 +/- 19 days (range 8 to 78). With the same technique we also evaluated 12 control patients: four patients at day 1 after cardiac operation while they were still intubated; four normally convalescing patients at day 7 or 8 after cardiac operation; and four patients who required prolonged mechanical ventilation because of another identified cause after cardiac operation. Diaphragmatic function was evaluated at the bedside from esophageal and gastric pressure measurements. A low or negative ratio of gastric pressure swing to transdiaphragmatic pressure swing, indicative of diaphragm dysfunction, was found in all 13 patients (mean -0.39 +/- 0.64). The difference between the 13 patients and all control groups was found to be highly significant. Transdiaphragmatic pressure measured during a maximal voluntary inspiratory effort and transdiaphragmatic pressure measured during a short, sharp sniff were markedly diminished (28 +/- 18 cm H2O and 13 +/- 15 cm H2O, respectively) in the 13 patients, significantly different from values in the four control patients studied at day 7 or 8. Transdiaphragmatic pressure measured after magnetic stimulation in four patients was also markedly reduced (7 +/- 5 cm H2O) as compared with normal theoretic values. Aminophylline infusion had no effect on any of these parameters. In one of two patients evaluated a second time, about 5 weeks later, a marked improvement was observed. Estimating the prevalence of clinically relevant diaphragmatic dysfunction, we found it to be 0.5% when no topical cooling was used and 2.1% when iced slush with no insulation pad was added for myocardial protection (p < 0.005). The

  16. Postoperative pulmonary hypertensive crisis caused by inverted left atrial appendage after cardiopulmonary bypass surgery for congenital heart disease in a neonate.

    Science.gov (United States)

    Zhao, Qifeng; Hu, Xingti

    2013-09-01

    Postoperative pulmonary hypertensive crisis (PHC) caused by an inverted left atrial appendage (ILAA) is a rare complication following cardiac surgery. We present a case of 23 day-old male infant who developed postoperative PHC attacks after undergoing cardiopulmonary bypass (CPB) surgery for repair of the coactation of aorta. A hyperechogenic left atrial mass was detected via bedside transthoracic echocardiography (TTE), which was identified as an ILAA and corrected following repeat surgery. In this case, both the negative pressure in vent catheter and the long left atrial appendage (LAA) with a narrow base led to an irreversible ILAA. As in this neonate, ILAA had significant influence on the left atrial volume and caused PHC since the ILAA was located on the mitral valve orifice and interfered with the blood flow through the valve. Therefore, we recommend that the vent catheter should be turned off before removing to avoid this potential complication. Additionally, LAA should be carefully inspected after CPB surgery, and intra-operative and post-operative transoesophageal echocardiography (TEE) should be performed to detect ILAA intraoperatively so as to avoid the reoperation. When an ILAA is diagnosed postoperatively, whether conservative treatment or surgery will depend on the balance of benefit and risk for a particular patient. Crown Copyright © 2013. Published by Elsevier B.V. All rights reserved.

  17. Budd-chiari syndrome caused by diaphragmatic hernia of the liver: a case report

    Energy Technology Data Exchange (ETDEWEB)

    Song, Jae Min; Yoon, Jung Won; Kim, Jae Wook; Chung, Woo Kyoung; Chung, Hee Sun; Kim, Joo Hyung; Choi, Jun Ho; Kim, Seung Ho [Armed Forces Capital Hospital, Seongnam (Korea, Republic of)

    2007-01-15

    Budd-Chiari syndrome is an uncommon disorder, and it is caused by obstruction of the hepatic venous out-flow or inferior vena cava above the hepatic vein. It may result from a large number of conditions, including primary congenital obstructions of the hepatic veins or inferior vena cava by webs or bands. Secondary causes include trauma, polycythemia vera, chronic leukemia, pregnancy, tumors and use of oral contraceptives. No definitive etiologic factors have been identified in two thirds of all cases. We recently experienced a case of Budd-Chiari syndrome caused by diaphragmatic hernia in 21-year-old man. Postoperative follow up CT showed normal venous flow after reintroduction of the liver into the abdominal cavity and closure of the diaphragm defect.

  18. [Results of the treatment of congenital diaphagmatic hernia with conventional terapeutics modalities].

    Science.gov (United States)

    Luis, A L; Avila, L F; Encinas, J L; Andrés, A M; Suárez, O; Elorza, D; Rodríguez, I; Martínez, L; Murcia, J; Lassaletta, L; Tovar, J A

    2006-07-01

    In this study, we analyze our results in the treatment of congenital diaphragmatic hernia (CDH) using conventional ventilatory therapy without ECMO. fifty one CDH patients (27 males and 24 females) treated at our institution between 1997 and 2004 were reviewed. Data referred to obstetrics, prenatal diagnosis, newborn care, type of hernia and surgical treatment were analyzed. We recorded ventilatory treatment modalities and the outcome of the patients. We also compared the survival of our series with those expected using the formula proposed by the CDH study group in 2001. We finally analized separately those patients with early clinical presentation and who fulfilled ECMO criteria. Data from necropsies were also recovered when available. Prenatal diagnosis was made in 58% of the patients. Fifty nine percent were born by c-section. The diaphragmatic defect was left-sided in 42 patients, right in 8 and bilateral in 1. Ten patients needed a prosthetic patch to close the defect. Eighteen out of the 51 patients (35%) died, 11 of them without surgical treatment. Early presentation of clinical picture was evident in 44 patients; among them 46% required high frequency ventilation and 53% nitric oxide therapy. Medium age at operation was 56+/-49 hours. The 7 children with late clinical presentation are alive. Among the 44 remaining patients, 26 are also alive (59,09%), data similar to those expected by the formula (62.39%, p>0.05). Fifteen patients had oxigenation index (IO) over 40, with a stimated survival rate of 48%, a statistically significant lower rate when compared to patients with IO40 survived; in 4 out of the 7 available necropsy studies, a severe lung hypoplasia was found (index lung weight/body weight ventilatory measures in patients with IO40 are rarely candidates to ECMO therapy because of the associated severe lung hypoplasia confirmed by necropsy studies.

  19. [A successful weaning from mechanical ventilation by diaphragmatic plication for unilateral diaphragmatic paralysis].

    Science.gov (United States)

    Takara, Itaru; Ooshiro, Masakatsu; Iha, Hiroshi; Sugahara, Kazuhiro

    2004-02-01

    A patient with unilateral diaphragmatic paralysis (UDP) after cardiac surgery, commonly extubated without any troubles, encounters a serious fetal respiratory complication in a rare case. We had a case of a 68-year-old man under long term mechanical ventilation (MV) because of UDP and phrenic nerve injuries after the replacement of the ascending aorta. After this operation he suffered from mediastinal infection and needed MV for a few days. Thereafter, he was extubated successfully and returned to the ward, but his chest X-p showed right diaphragmatic elevation. Two days after returning to the ward, he developed dyspnea and tachypnea and received MV for two months. We decided to perform diaphragmatic plication (DP) because of long term MV and difficulty in respiratory weaning. The patient was successfully weaned from MV on the 4th postoperative day of the right DP. Pulmonary function test was improved dramatically. In a case of long term MV due to UDP, DP can be one of effective treatments.

  20. Congenital toxoplasmosis

    Science.gov (United States)

    ... page: //medlineplus.gov/ency/article/001360.htm Congenital toxoplasmosis To use the sharing features on this page, please enable JavaScript. Congenital toxoplasmosis is a group of symptoms that occur when ...

  1. Congenital Hypothyroidism

    Science.gov (United States)

    ... Disease Featured Resource Find an Endocrinologist Search Congenital Hypothyroidism March 2012 Download PDFs English Espanol Editors Rosalind S. ... Resources MedlinePlus (NIH) Mayo Clinic What is congenital hypothyroidism? Newborn babies who are unable to make enough ...

  2. Collateral sources of costal and crural diaphragmatic blood flow

    International Nuclear Information System (INIS)

    Lockhat, D.; Magder, S.; Roussos, C.

    1985-01-01

    We measured the contribution of aortic, internal mammary, and intercostal arteries to the blood flow to the costal and crural segments of the diaphragm and other respiratory muscles in seven dogs breathing against a fixed inspiratory elastic load. We used radiolabeled microspheres to measure the blood flow with control circulation, occlusion of the aorta distal to the left subclavian artery, combined occlusion of the aorta and both internal mammary arteries, and occlusion of internal mammary arteries alone. With occlusion of the aorta distal to the left subclavian artery, blood flow to the crural diaphragm decreased from 40.3 to 23.5 ml . min-1 X 100 g-1, whereas costal flow did not change significantly (from 41.7 to 38.1 ml . min-1 . 100 g-1). Blood flows to the sternomastoid and scalene muscles (above the occlusion) increased by 200 and 340%, respectively, whereas flows to the other respiratory muscles did not change significantly. Blood flows to organs above the occlusion either remained unchanged or increased, whereas flows to those below the occlusion all decreased. When the internal mammary artery was also occluded, flows to the crural segment decreased further to 12.1 and costal flow decreased to 20.4 ml X min-1 X 100 g-1. Internal mammary arterial occlusion alone in two dogs had no effect on diaphragmatic flow. In conclusion, intercostal collateral vessels are capable of supplying a significant proportion of blood flow to both segments of the diaphragm but the costal segment is better served than the crural segment

  3. Neonatal bilateral diaphragmatic paralysis caused by brain stem haemorrhage.

    OpenAIRE

    Blazer, S; Hemli, J A; Sujov, P O; Braun, J

    1989-01-01

    We describe a neonate with severe bilateral diaphragmatic paralysis caused by haemorrhage in the lower brain stem. To our knowledge this association has not been previously reported in the English medical literature.

  4. Sonographic evaluation of diaphragmatic function during breathing control.

    Science.gov (United States)

    Jones, A Y M; Ngai, S P C; Ying, M T C; Morris, N R; Laakso, E L; Lee, S W Y; Parry, S M

    2017-07-01

    To investigate the effect of "breathing control" on sonographic diaphragmatic excursion. A prospective, randomized, assessor-blinded study design involving 20 physiotherapy students; ten with knowledge of the breathing control technique (Group BC) and ten without (Group CON). All participants were asked to perform a Chester step test. Group BC performed BC, while Group CON adopted their own breathing pattern during recovery after the step test. Respiratory rate and sonographic parameters of the diaphragm including diaphragmatic excursion, speed of diaphragmatic contraction (slope of contraction), and inspiratory time were recorded before and after the step test. All baseline data were similar for both groups except age. Respiratory rate at 1 min post-step test was higher in Group CON (24.6±4.9 bpm) compared to Group BC (15.6 ± 3.8 bpm) (p breathing techniques and diaphragmatic function.

  5. Potentiation of diaphragmatic twitch after voluntary contraction in normal subjects.

    OpenAIRE

    Wragg, S.; Hamnegard, C.; Road, J.; Kyroussis, D.; Moran, J.; Green, M.; Moxham, J.

    1994-01-01

    BACKGROUND--Skeletal muscle twitch responses may be transiently increased by previous contractions, a phenomenon termed twitch potentiation. The aim of this study was to examine the extent and time course of diaphragmatic twitch potentiation and its relationship to both the magnitude and duration of the preceding voluntary diaphragmatic contraction. METHODS--Twitch transdiaphragmatic pressure (PDI) was measured in six normal subjects, before and after voluntary diaphragm contractions of 100%,...

  6. Clinical impact of left ventricular eccentricity index using cardiac MRI in assessment of right ventricular hemodynamics and myocardial fibrosis in congenital heart disease

    Energy Technology Data Exchange (ETDEWEB)

    Yamasaki, Yuzo; Kamitani, Takeshi; Yamanouchi, Torahiko; Honda, Hiroshi [Kyushu University, Departments of Clinical Radiology, Graduate School of Medical Sciences, Fukuoka (Japan); Nagao, Michinobu; Kawanami, Satoshi [Kyushu University, Molecular Imaging and Diagnosis, Graduate School of Medical Sciences, Fukuoka (Japan); Yamamura, Kenichiro [Kyushu University, Pediatrics, Graduate School of Medical Sciences, Fukuoka (Japan); Sakamoto, Ichiro [Kyushu University, Cardiovascular Medicine, Graduate School of Medical Sciences, Fukuoka (Japan); Yabuuchi, Hidetake [Kyushu University, Health SciencesGraduate School of Medical Sciences, Fukuoka (Japan)

    2016-10-15

    To investigate the utility of eccentricity index (EI) using cardiac cine MRI for the assessment of right ventricular (RV) hemodynamics in congenital heart disease (CHD). Fifty-five patients with CHD (32 women; mean age, 40.7 ± 20.9 years) underwent both cardiac MRI and right heart catheterization. EI was defined as the ratio of the distance between the anterior-posterior wall and the septal-lateral wall measured in the short-axis of mid-ventricular cine MRI. Correlations between EIs and RV hemodynamic parameters were analyzed. EIs were compared between patients with and without late gadolinium enhancement (LGE). A strong correlation between mean pulmonary artery pressure (PAP) and systolic EI (r = 0.81, p < 0.0001) and a moderate negative correlation between diastolic EI and RV ejection fraction (EF) (r = -0.62, p < 0.0001) were observed. Receiver operating characteristic analysis revealed optimal EI thresholds for detecting patients with mean PAP ≥40 mmHg with C-statistics of 0.90 and patients with RVEF <40 % with C-statistics of 0.78. Systolic EIs were significantly greater for patients with LGE (1.45 ± 0.05) than for those without LGE (1.15 ± 0.07; p < 0.001). EI offers a simple, comprehensive index that can predict pulmonary hypertension and RV dysfunction in CHD. (orig.)

  7. Spontaneous activity in peripheral diaphragmatic lymphatic loops.

    Science.gov (United States)

    Moriondo, Andrea; Solari, Eleonora; Marcozzi, Cristiana; Negrini, Daniela

    2013-10-01

    The spontaneous contractility of FITC-dextran-filled lymphatics at the periphery of the pleural diaphragm was documented for the first time "in vivo" in anesthetized Wistar rats. We found that lymphatic segments could be divided into four phenotypes: 1) active, displaying rhythmic spontaneous contractions (51.8% of 197 analyzed sites); 2) stretch-activated, whose contraction was triggered by passive distension of the vessel lumen (4.1%); 3) passive, which displayed a completely passive distension (4.5%); and 4) inert, whose diameter never changed over time (39.6%). Smooth muscle actin was detected by immunofluorescence and confocal microscopy in the vessel walls of active but also of inert sites, albeit with a very different structure within the vessel wall. Indeed, while in active segments, actin was arranged in a dense mesh completely surrounding the lumen, in inert segments actin decorated the vessels wall in sparse longitudinal strips. When located nearby along the same lymphatic loop, active, stretch-activated, and passive sites were always recruited in temporal sequence starting from the active contraction. The time delay was ∼0.35 s between active and stretch-activated and 0.54 s between stretch-activated and passive segments, promoting a uniform lymph flux of ∼150/200 pl/min. We conclude that, unlike more central diaphragmatic lymphatic vessels, loops located at the extreme diaphragmatic periphery do require an intrinsic pumping mechanism to propel lymph centripetally, and that such an active lymph propulsion is attained by means of a complex interplay among sites whose properties differ but are indeed able to organize lymph flux in an ordered fashion.

  8. Atypical right diaphragmatic hernia (hernia of Morgagni, spigelian hernia and epigastric hernia in a patient with Williams syndrome: a case report

    Directory of Open Access Journals (Sweden)

    Rashid Farhan

    2009-01-01

    Full Text Available Abstract Introduction Williams syndrome is rare genetic disorder resulting in neurodevelopmental problems. Hernias of the foramen of Morgagni are rare diaphragmatic hernias and they mostly present on the right side, in the anterior mediastinum. They are usually asymptomatic and are difficult to diagnose, especially in patients with learning disabilities. Case presentation This 49-year-old woman with Williams syndrome, cognitive impairment and aortic stenosis presented to physicians with right-sided chest pain. She had previously undergone repair of her right spigelian and epigastric hernia. Her abdominal examination was unremarkable. Chest X-ray suggested right-sided diaphragmatic hernia and pleural effusion for which she received treatment. The computed tomography scan showed a diaphragmatic hernia with some collapse/consolidation of the adjacent lung. Furthermore, the patient had aortic stenosis and was high risk for anaesthesia (ASA grade 3. She underwent successful laparoscopic repair of her congenital diaphragmatic hernia leading to a quick and uneventful postoperative recovery. Conclusion These multiple hernias suggest that patients with Williams syndrome may have some connective tissue disorder which makes them prone to develop hernias especially associated with those parts of the body which may have intracavity pressure variations like the abdomen. Diaphragmatic hernia may be the cause of chest pain in these patients. A computed tomography scan helps in early diagnosis, and laparoscopic repair helps in prevention of further complications, and leads to quick recovery especially in patients with learning disabilities. In the presence of significant comorbidities, a less invasive operative procedure with quick recovery becomes advisable.

  9. Contribution of respiratory muscle blood flow to exercise-induced diaphragmatic fatigue in trained cyclists

    DEFF Research Database (Denmark)

    Vogiatzis, Ioannis; Athanasopoulos, Dimitris; Boushel, Robert Christopher

    2008-01-01

    We investigated whether the greater degree of exercise-induced diaphragmatic fatigue previously reported in highly trained athletes in hypoxia (compared with normoxia) could have a contribution from limited respiratory muscle blood flow. Seven trained cyclists completed three constant load 5 min...... exercise tests at inspired O(2) fractions (FIO2) of 0.13, 0.21 and 1.00 in balanced order. Work rates were selected to produce the same tidal volume, breathing frequency and respiratory muscle load at each FIO2 (63 +/- 1, 78 +/- 1 and 87 +/- 1% of normoxic maximal work rate, respectively). Intercostals...... and quadriceps muscle blood flow (IMBF and QMBF, respectively) were measured by near-infrared spectroscopy over the left 7th intercostal space and the left vastus lateralis muscle, respectively, using indocyanine green dye. The mean pressure time product of the diaphragm and the work of breathing did not differ...

  10. Rare case of left adrenal cortical carcinoma with level 3 inferior vena ...

    African Journals Online (AJOL)

    Observation: A 21-year-old male, incidentally detected with left supra renal tumor invading the left renal vein and the thrombus extending into the supra diaphragmatic IVC, underwent laparotomy with simultaneous median sternotomy on total cardiac bypass for removal of IVC tumor thrombus and radical excision of the ...

  11. Importance of diagnostic laparoscopy in the assessment of the diaphragm after left thoracoabdominal stab wound: A prospective cohort study.

    Science.gov (United States)

    Yücel, Metin; Özpek, Adnan; Tolan, Hüseyin Kerem; Başak, Fatih; Baş, Gürhan; Ünal, Ethem; Alimoğlu, Orhan

    2017-03-01

    Stab wounds in the left thoracoabdominal region may cause diaphragmatic injury. The aim of the present study was to determine incidence of diaphragmatic injury and role of diagnostic laparoscopy in detection of injury in patients with left thoracoabdominal stab wound. Total of 81 patients (75 male, 6 female; mean age 27.5±9.8 years; range 14 to 60 years) who presented with left thoracoabdominal stab wound between April 2009 and September 2014 were evaluated. Laparotomy was performed on patients who had hemodynamic instability, signs of peritonitis, or organ evisceration. Remaining patients were followed conservatively. After 48 hours, diagnostic laparoscopy was performed on patients without laparotomy indication to examine the left diaphragm for injury. Follow-up and treatment findings were prospectively evaluated. Thirteen patients underwent laparotomy while diagnostic laparoscopy was performed on remaining 68 patients. Left diaphragmatic injury was observed in 19 patients (23.5%) in the study group. Four injuries were diagnosed by laparotomy and 15 were diagnosed by laparoscopy. Presence of hemopneumothorax did not yield difference in incidence of diaphragmatic injury (p=0.131). No significant difference was detected in terms of diaphragmatic injury with respect to entry site of stab wound in the thoracoabdominal region (p=0.929). It is important to evaluate the diaphragm in left thoracoabdominal stab injuries, and diagnostic laparoscopy is still the safest and most feasible method.

  12. 21 CFR 882.5830 - Implanted diaphragmatic/phrenic nerve stimulator.

    Science.gov (United States)

    2010-04-01

    ... 21 Food and Drugs 8 2010-04-01 2010-04-01 false Implanted diaphragmatic/phrenic nerve stimulator... Implanted diaphragmatic/phrenic nerve stimulator. (a) Identification. An implanted diaphragmatic/phrenic... spinal cord injury, or chronic lung disease. The stimulator consists of an implanted receiver with...

  13. Treatment of congenital tuberculosis.

    Science.gov (United States)

    Patel, Sonal; DeSantis, Evelyn R Hermes

    2008-11-01

    The diagnosis and treatment of congenital tuberculosis are discussed. Congenital tuberculosis is rare and fatal if left untreated. If a pregnant woman with tuberculosis is not treated, infection of the fetus can occur by hematogenous spread through the umbilical cord or by aspiration or ingestion of amniotic fluid. Signs and symptoms of congenital tuberculosis may be nonspecific, which may preclude early diagnosis and treatment. Criteria for the diagnosis of congenital tuberculosis require the infant to have a tuberculous lesion, as indicated by chest radiography or granulomas, and at least one of the following should be confirmed: (1) onset during the first week of life, (2) primary hepatic tuberculosis complex or caseating hepatic granulomas, (3) infection of the placenta or maternal genital tract, or (4) exclusion of postnatal transmission by a contact investigation. Since 2001, 21 cases of congenital tuberculosis have been reported in English-language medical journals, with the age of presentation ranging from day 1 to 90. Based on findings from published case reports, congenital tuberculosis should be considered in the differential diagnosis of newborns who have (1) nonresponsive, worsening pneumonia, especially in regions with high rates of tuberculosis, (2) nonspecific symptoms but have a mother diagnosed with tuberculosis, (3) high lymphocyte counts in the cerebrospinal fluid without an identified bacterial pathogen, or (4) fever and hepatosplenomegaly. Once diagnosed, it is essential to promptly begin treatment with isoniazid, rifampin, pyrazinamide, and streptomycin in order to decrease the mortality associated with the infection. Early diagnosis and treatment during the neonatal period are crucial in minimizing the fatality associated with congenital tuberculosis.

  14. Diaphragmatic Breathing Reduces Exercise-Induced Oxidative Stress

    Directory of Open Access Journals (Sweden)

    Daniele Martarelli

    2011-01-01

    Full Text Available Diaphragmatic breathing is relaxing and therapeutic, reduces stress, and is a fundamental procedure of Pranayama Yoga, Zen, transcendental meditation and other meditation practices. Analysis of oxidative stress levels in people who meditate indicated that meditation correlates with lower oxidative stress levels, lower cortisol levels and higher melatonin levels. It is known that cortisol inhibits enzymes responsible for the antioxidant activity of cells and that melatonin is a strong antioxidant; therefore, in this study, we investigated the effects of diaphragmatic breathing on exercise-induced oxidative stress and the putative role of cortisol and melatonin hormones in this stress pathway. We monitored 16 athletes during an exhaustive training session. After the exercise, athletes were divided in two equivalent groups of eight subjects. Subjects of the studied group spent 1 h relaxing performing diaphragmatic breathing and concentrating on their breath in a quiet place. The other eight subjects, representing the control group, spent the same time sitting in an equivalent quite place. Results demonstrate that relaxation induced by diaphragmatic breathing increases the antioxidant defense status in athletes after exhaustive exercise. These effects correlate with the concomitant decrease in cortisol and the increase in melatonin. The consequence is a lower level of oxidative stress, which suggests that an appropriate diaphragmatic breathing could protect athletes from long-term adverse effects of free radicals.

  15. Metabolic disturbances of the vitamin A pathway in human diaphragmatic hernia

    Science.gov (United States)

    Coste, Karen; J. E. Beurskens, Leonardus W.; Blanc, Pierre; Gallot, Denis; Delabaere, Amélie; Blanchon, Loïc; Tibboel, Dick; Labbé, André; Rottier, Robbert J.

    2014-01-01

    Congenital diaphragmatic hernia (CDH) is a common life-threatening congenital anomaly resulting in high rates of perinatal death and neonatal respiratory distress. Some of the nonisolated forms are related to single-gene mutations or genomic rearrangements, but the genetics of the isolated forms (60% of cases) still remains a challenging issue. Retinoid signaling (RA) is critical for both diaphragm and lung development, and it has been hypothesized that subtle disruptions of this pathway could contribute to isolated CDH etiology. Here we used time series of normal and CDH lungs in humans, in nitrofen-exposed rats, and in surgically induced hernia in rabbits to perform a systematic transcriptional analysis of the RA pathway key components. The results point to CRPBP2, CY26B1, and ALDH1A2 as deregulated RA signaling genes in human CDH. Furthermore, the expression profile comparisons suggest that ALDH1A2 overexpression is not a primary event, but rather a consequence of the CDH-induced lung injury. Taken together, these data show that RA signaling disruption is part of CDH pathogenesis, and also that dysregulation of this pathway should be considered organ specifically. PMID:25416379

  16. Cardiac MRI in children and adolescents who have undergone surgical repair of right-sided congenital heart disease. Automated left ventricular volumes and function analysis and effects of different manual adjustments

    Energy Technology Data Exchange (ETDEWEB)

    Rompel, O.; Janka, R.; May, M.S.; Lell, M.M.; Uder, M.; Hammon, M. [University Hospital Erlangen (Germany). Dept. of Radiology; Gloeckler, M.; Dittrich, S. [University Hospital Erlangen (Germany). Dept. of Pediatric Cardiology; Cesnjevar, R. [University Hospital Erlangen (Germany). Dept. of Pediatric Cardiac Surgery

    2015-12-15

    To evaluate automated segmentation and the effects of different manual adjustments regarding left ventricular parameter quantification in cardiac magnetic resonance (MR) data on children and adolescents who have undergone surgical repair of right-sided congenital heart disease (CHD). Dedicated software (syngo.via, Siemens AG) was used to automatically segment and/or manually adjust the end-diastolic volume (EDV), end-systolic volume (ESV), stroke volume (SV), myocardial mass (MM) and ejection fraction (EF) before/after manual apex/base adjustment (ADJ-step 1) and after manual apex/base/myocardial contour adjustment (ADJ-step 2; reference standard). MR data of 40 patients (13.1 ± 3.1y, 4-17y) with repaired CHD with decreased pulmonary blood flow (CHD-DPBF) were evaluated. Intra- and inter-rater reliability was determined for 10 randomly selected patients. The software correctly detected the left ventricle in 38/40 (95 %) patients. EDV after automated segmentation: 119.1 ± 44.0ml; after ADJ-step 1: 115.8 ± 39.5 ml; after ADJ-step 2: 116.2 ± 39.4 ml. The corresponding results for ESV were 52.0 ± 18.5/49.6 ± 16.9/49.7 ± 16.4 ml; for SV 67.1 ± 28.5/66.2 ± 25.4/66.5 ± 25.5 ml; for EF 55.5 ± 7.3/56.7 ± 6.6/56.7 ± 6.3%; for MM 83.7 ± 35.9/76.2 ± 28.3/74.6 ± 27.2 g. Significant differences were found for ESV/MM/EF comparing the automated segmentation results with these after ADJ-step 1 and ADJ-step 2. No significant differences were found when comparing all results of ADJ-step 1 and ADJ-step 2 or when comparing EDV/SV results. Intra- and inter-rater reliability was excellent. The mean time effort was 63.4 ± 6.9 s for the automated segmentation, 74.2 ± 8.9 s for ADJ-step 1 and 269.5 ± 39.4 s for ADJ-step 2. Automated left ventricular volumes and function analysis in children and adolescents with surgically treated CHD proved to be feasible with excellent intra- and inter-rater reliability. Automated segmentation with manual apex/base adjustment provided

  17. Cardiac MRI in children and adolescents who have undergone surgical repair of right-sided congenital heart disease. Automated left ventricular volumes and function analysis and effects of different manual adjustments

    International Nuclear Information System (INIS)

    Rompel, O.; Janka, R.; May, M.S.; Lell, M.M.; Uder, M.; Hammon, M.; Gloeckler, M.; Dittrich, S.; Cesnjevar, R.

    2015-01-01

    To evaluate automated segmentation and the effects of different manual adjustments regarding left ventricular parameter quantification in cardiac magnetic resonance (MR) data on children and adolescents who have undergone surgical repair of right-sided congenital heart disease (CHD). Dedicated software (syngo.via, Siemens AG) was used to automatically segment and/or manually adjust the end-diastolic volume (EDV), end-systolic volume (ESV), stroke volume (SV), myocardial mass (MM) and ejection fraction (EF) before/after manual apex/base adjustment (ADJ-step 1) and after manual apex/base/myocardial contour adjustment (ADJ-step 2; reference standard). MR data of 40 patients (13.1 ± 3.1y, 4-17y) with repaired CHD with decreased pulmonary blood flow (CHD-DPBF) were evaluated. Intra- and inter-rater reliability was determined for 10 randomly selected patients. The software correctly detected the left ventricle in 38/40 (95 %) patients. EDV after automated segmentation: 119.1 ± 44.0ml; after ADJ-step 1: 115.8 ± 39.5 ml; after ADJ-step 2: 116.2 ± 39.4 ml. The corresponding results for ESV were 52.0 ± 18.5/49.6 ± 16.9/49.7 ± 16.4 ml; for SV 67.1 ± 28.5/66.2 ± 25.4/66.5 ± 25.5 ml; for EF 55.5 ± 7.3/56.7 ± 6.6/56.7 ± 6.3%; for MM 83.7 ± 35.9/76.2 ± 28.3/74.6 ± 27.2 g. Significant differences were found for ESV/MM/EF comparing the automated segmentation results with these after ADJ-step 1 and ADJ-step 2. No significant differences were found when comparing all results of ADJ-step 1 and ADJ-step 2 or when comparing EDV/SV results. Intra- and inter-rater reliability was excellent. The mean time effort was 63.4 ± 6.9 s for the automated segmentation, 74.2 ± 8.9 s for ADJ-step 1 and 269.5 ± 39.4 s for ADJ-step 2. Automated left ventricular volumes and function analysis in children and adolescents with surgically treated CHD proved to be feasible with excellent intra- and inter-rater reliability. Automated segmentation with manual apex/base adjustment provided

  18. Congenital tuberculosis

    African Journals Online (AJOL)

    Prof Ezechukwu

    2012-06-20

    Jun 20, 2012 ... Key words: Congenital tuberculo- sis, case report, miliary tuberculosis. Introduction. Congenital tuberculosis defines tuberculosis in infants of .... tary TB and otitis media, resulting in seizures, deafness, and death. It is therefore not surprising that the index case who presented at twelve weeks of age, had ...

  19. Congenital Myopathy

    Science.gov (United States)

    ... results in weakness. Congenital myopathy refers to a group of muscle disorders that appear at birth or in infancy. Typically, an infant with a congenital myopathy will be "floppy," have difficulty breathing or feeding, and will lag behind other babies in meeting ...

  20. Congenital Myasthenia

    Science.gov (United States)

    ... Symptoms of congenital myasthenia usually appear in the first few years of childhood, but may not be noticeable until much later, ... Symptoms of congenital myasthenia usually appear in the first few years of childhood, but may not be noticeable until much later, ...

  1. Congenital ganglioglioma.

    Science.gov (United States)

    Karthikeyan, Gengaimuthu; Subburam, Paiyanan; Ravishankar, Soundian Soundian

    2002-03-01

    Congenital neoplasms of brain presenting at birth are extremely uncommon. We report a case of congenital ganglioglioma presenting at birth with hydrocephalus. Ventriculoperitoneal shunt and surgical debulking of the tumour along with histopathological confirmation were done at 6 months of age. On follow-up at 18 months, the child's hydrocephalus is static and his assessed developmental age is 10-12 months.

  2. Warfarin-Associated Diaphragmatic Hernia: An Unusual Diagnosis

    Directory of Open Access Journals (Sweden)

    Cristina Vilhena

    2015-01-01

    Full Text Available Fetal warfarin syndrome is a consequence of maternal intake of warfarin during pregnancy and comprises a wide range of manifestations, including some typical facial dysmorphologic features. The authors report a case of prenatal ultrasonographic diagnosis of warfarin embryopathy in an obese woman on unsupervised warfarin prophylaxis at the 16th week of gestation. The fetus presented with facial dysmorphism, pectus excavatum, diaphragmatic hernia, and pulmonary hypoplasia. To the best of our knowledge, this is the second reported case of warfarin-associated diaphragmatic hernia.

  3. Diaphragmatic eventration complicated by gastric volvulus with ...

    African Journals Online (AJOL)

    revealed pneumoperitoneum, raised left diaphragm and right- sided mediastinal shift (Fig. 1). Contrast-enhanced computed tomography (CT) of the chest and abdomen confirmed the presence of pneumoperitoneum and also showed significant elevation of the left hemidiaphragm along with the displacement of the stomach ...

  4. delayed presentation of blunt traumatic diaphragmatic heria

    African Journals Online (AJOL)

    Zinox

    discomfort or abdominal pains. Bowel sounds may also be heard in left-sided hernia associated with bowel loops in the chest. Because of the difficulty in diagnosis, a variable percentage of cases between 9.5 to 60% are diagnosed late7. Delayed diagnosis on the left side could result in gastric incarceration and perforation ...

  5. Divertículo congénito del ventrículo izquierdo en el niño:: una experiencia africana Congenital diverticulum of the left ventricle in children:: an African experience

    Directory of Open Access Journals (Sweden)

    Andrés Savío Benavides

    2010-03-01

    Full Text Available Se describe el caso de un escolar africano, de 7 años de edad, con un divertículo congénito del ventrículo izquierdo que fue exitosamente tratado mediante cirugía. Esta es una afección infrecuente, mal interpretada y potencialmente letal. Se ha descrito una amplia variedad de manifestaciones clínicas, y el diagnóstico se basa en el examen físico, los resultados radiográficos y electrocardiográficos. Estos últimos son indispensables, pues con el Doppler en color se puede observar el cortocircuito (shunt desde el ventrículo hasta la cámara diverticular, alternativamente en sístole y diástole. La angiocardiografía, la tomografía axial y sobre todo la resonancia magnética son, sin duda, elementos que contribuyen a corroborar el diagnóstico. Diferentes técnicas quirúrgicas se han empleado con éxito en la reparación de este defecto.Authors describe the case of an African schoolboy aged 7, with a congenital diverticulum of left ventricle successfully treated by surgery. This is a uncommon affection, misinterpreted and potentially lethal. Many clinical manifestations have been described and the diagnosis is based on the physical examination, radiographic and electrocardiographic results. These latter are essential since with the use of color-Doppler it is possible to note the shunt from the ventricle up to the diverticulum camera in systole and in diastole. The angiocardiography, axial tomography (AT and mainly the magnetic resonance (MR are undoubtedly, elements contributing to corroborate the diagnosis. Different surgical techniques have been successfully used in repair of this defect.

  6. Laparoscopic repair of traumatic rupture of the left diaphragm cupola with prosthetic mesh.

    Science.gov (United States)

    Pojarliev, T; Tzvetkov, I; Blagov, J; Radionov, M

    2003-04-01

    We present the case of a 23-year-old patient who had a car accident with a steering wheel trauma 6 months previously. The patient complained of abdominal pain, getting easily tired, and breathing difficulties. A diagnosis of traumatic diaphragmatic hernia was established by a contrast radiographic examination. Laparoscopy confirmed a rupture of the left diaphragmatic cupola and prolapse of the stomach, small intestine, and colon in the left thoracic cavity. Laparoscopic repair of the diaphragm with polypropylene mesh was performed. The patient recovered rapidly and was discharged 72 h after the operation. The control radiographs and computed tomography (CT) contrast investigations showed no recurrence. The patient's preoperative complaints had resolved completely. The case is interesting because traumatic diaphragmatic hernia is sometimes difficult to diagnose. Its laparoscopic treatment is still a challenge for modern surgery, and there are not enough publications on the problem.

  7. Measurement of Diaphragmatic Blood Flow and Oxygen Consumption in the Dog by the Kety-Schmidt Technique

    Science.gov (United States)

    Rochester, Dudley F.

    1974-01-01

    To assess energy expenditure of the diaphragm directly, a method was devised for percutaneous catheterization of the left inferior phrenic vein in dogs. Necropsy studies, including retrograde injection of india ink and measurement of radioactivity in diaphragmatic muscle strips, suggested that the territory drained by the inferior phrenic vein was uniformly perfused, and that there were no major anastomoses between this bed and adjacent ones. Diaphragmatic blood flow (˙Q di) was calculated from the integrated diaphragmatic arteriovenous difference of 85Kr by the Kety-Schmidt technique. Diaphragmatic oxygen consumption (˙Vo2 di) was determined as the product of ˙Q di and the diaphragmatic arteriovenous oxygen content difference [(A-V)O2 di]. When lightly anesthetized dogs breathed quietly, ˙Q di was 22±SD 6 ml/min/100 g, (A-V)O2 di was 6.1±SD 2.5 ml/100 ml, and ˙VO2 di averaged 1.2±SD 0.3 ml/min/100 g. This represented 1.0±SD 0.2% of total body oxygen consumption. ˙VO2 di remained relatively constant during quiet breathing, whereas ˙Q di varied directly with cardiac output and reciprocally with (A-V)O2 di. The oxygen consumption of the noncontracting diaphragm was 60±SD 20% of the level measured during quiet breathing. The energy expended by the diaphragm to support simple hyperventilation was small. A 100% increase in minute ventilation, induced by inhalation of 5% CO2 in 21% or 14% O2, increased ˙Q di 13%, (A-V)O2 di 19%, and ˙VO2 di 40%. The diaphragm consumed 0.13±SD 0.09 ml O2 for each additional liter of ventilation. In four dogs, pneumonia appeared to increase ˙VO2 both by increasing minute ventilation and by increasing the energy cost per liter of ventilation. PMID:4825221

  8. Computer tomographic and sonographic diagnosis of diaphragmatic hernias

    International Nuclear Information System (INIS)

    Kurtz, B.; Koenig, H.; Walter, E.

    1983-01-01

    The diagnosis of supra diaphragmatic masses, particularly Morgagni's, Larrey's or Bochdalek's hernia was rarely possible by conventional methods. By using sonography and more particularly, computed tomography, these hernias can be distinguished from other masses in the region of the diaphragms. Their characteristic appearances and the diagnostic procedures are described. Invasive procedures, such as diagnostic pneumoperitoneum, are no longer necessary. (orig.) [de

  9. Laparoscopic repair of Morgagni diaphragmatic hernia in children ...

    African Journals Online (AJOL)

    Minimal invasive surgery allows for excellent visualisation of the diaphragm, and is increasingly used for the repair of diaphragmatic hernias in children. This report describes laparoscopic repairs between 2001 and 2007 of four Morgagni hernias in children. All defects were treated successfully using the laparoscopic ...

  10. Emergency traumatic Diaphragmatic injuries in Benin city | Iribhogbe ...

    African Journals Online (AJOL)

    Diaphragmatic injuries (DI) frequently accompany thoracoabdominal trauma. The diagnosis remains a challenge to surgeons and radiologists worldwide but missed injuries to the diaphragm is associated with great morbidity and mortality. We aimed to determine the prevalence of this injury in acute trauma and in general ...

  11. Diaphragmatic excursion: does it predict successful weaning from mechanical ventilation?

    International Nuclear Information System (INIS)

    Hayat, A.; Khalil, A.

    2017-01-01

    To measure the diaphragmatic excursion and its outcome on weani ng from mechanical ventilation. Study Design: Cross-sectional comparative study. Place and Duration of Study: Medical Intensive Care Unit (ICU), Military Hospital (MH), Rawalpindi, Pakistan, from January to December 2014. Methodology: Diaphragmatic excursion (DE) in cm was measured through ultrasound by marking liver and spleen displacement in patients who fulfilled the criteria of removal from ventilatory support. The patients were followed up for 48 hours and classified according to the outcome as successful weaning and weaning failure. Results: Out of 100 cases, 76 patients had a successful weaning while 24 had a failed weaning outcome. At a diaphragmatic excursion of 1.2 cm and more, out of 67 cases, 60 had a successful weaning (89.55%) while 7 cases (10.45%) had a weaning failure. At an excursion of less than 1. 2 cm, 17 out of 33 cases (51.5%) had successful weaning while 16 (48.48%) had weaning failure. At this cut off point (1.2 cm), the sensitivity and specificity for successful weaning were 78.95% and 70.83%, respectively. The positive and negative likelihood ratio (LR) for these values being 2.70 and 0.29, respectively. The positive predictive value was 82.35% and negative predictive value 60.00%. Conclusion: Ultrasonographic measurement of diaphragmatic excursion is a good method for predicting weaning outcome from mechanical ventilation. (author)

  12. Misdiagnosis of diaphragmatic rupture in a trauma setting

    African Journals Online (AJOL)

    portion of the diaphragm, whereas progressive muscular atrophy secondary to several causes, for example a phrenic nerve palsy or previous trauma, is usually the cause of the acquired condition.1,2. In the event of trauma, one should have a high index of clinical suspicion for diaphragmatic rupture (DR), a notoriously ...

  13. Severe diaphragmatic necrosis in 4 horses with degenerative myopathy

    OpenAIRE

    Valentine, Beth A.; Hammock, Phillip D.; Lemiski, David; Hughes, Faith E.; Gerstner, Lonna; Bird, Karyn E.

    2002-01-01

    Severe diaphragmatic necrosis occurred in horses with degenerative myopathy due to polysaccharide storage myopathy (n = 2), nutritional myopathy (n = 1), and vasculitis (n = 1). Blood gas analysis performed in 1 horse indicated development of respiratory acidosis. Respiratory muscle necrosis can be severe in horses with degenerative myopathy and can lead to respiratory failure.

  14. Severe diaphragmatic necrosis in 4 horses with degenerative myopathy.

    Science.gov (United States)

    Valentine, Beth A; Hammock, Phillip D; Lemiski, David; Hughes, Faith E; Gerstner, Lonna; Bird, Karyn E

    2002-08-01

    Severe diaphragmatic necrosis occurred in horses with degenerative myopathy due to polysaccharide storage myopathy (n = 2), nutritional myopathy (n = 1), and vasculitis (n = 1). Blood gas analysis performed in 1 horse indicated development of respiratory acidosis. Respiratory muscle necrosis can be severe in horses with degenerative myopathy and can lead to respiratory failure.

  15. Congenital Abnormalities

    Science.gov (United States)

    ... Stages Ages and Stages Prenatal Baby (0-12 mos.) Toddler 1-3yrs. Preschool 3-5yrs Grade School ... Categories of Congenital Abnormalities Chromosome Abnormalities Chromosomes are structures that carry genetic material inherited from one generation ...

  16. Tracheomalacia - congenital

    Science.gov (United States)

    ... other congenital abnormalities, such as heart defects, developmental delay, or gastroesophageal reflux. Aspiration pneumonia can occur from ... urac.org). URAC's accreditation program is an independent audit to verify that A.D.A.M. follows ...

  17. Incidental retroaortic left innominate vein in adult patient

    Directory of Open Access Journals (Sweden)

    Alexandre Semionov, MD, PhD

    2017-09-01

    Full Text Available Retro-aortic left innominate vein is a rare vascular abnormality, usually associated with congenital heart disease. Here we report a case of isolated retro-aortic left innominate vein in an adult female.

  18. Congenital broncho-oesophageal fistula

    African Journals Online (AJOL)

    1983-04-09

    Apr 9, 1983 ... A case of broncho-oesophageal fistula causing bronchiectasis of the left· lung is reported. Oesophagorespiratory fistulas without atresia of the oesophagus often have an insidious clinical course and most commonly present in adulthood. This rare congenital anomaly should be considered as a cause of ...

  19. Laparoscopic repair of congenital pleuroperitoneal hernia using a polypropylene mesh in a dog

    Directory of Open Access Journals (Sweden)

    H.F. Hartmann

    2015-12-01

    Full Text Available ABSTRACT Pleuroperitoneal hernias are the most uncommon type of diaphragmatic hernias in dogs and cats. The treatment of choice is surgery and may involve the use of prosthetic implant through celiotomy. In the current report, laparoscopic repair of a congenital pleuroperitoneal hernia using polypropylene mesh in a dog is described. The surgery was feasible. Appropriate reduction of the hernia was carried out and no complications were noted.

  20. Macular scar secondary to congenital toxoplasmosis | El Hamichi ...

    African Journals Online (AJOL)

    A 8 years old girl suffers from strabismus since her first months of life. Her visual acuity was very low and could only see fingers moving in her left eye. Her left eye fundus showed a chorioretinal scar in the macula due to congenital toxoplasmosis. The biological findings proved the diagnosis of congenital toxoplasmosis.

  1. Diaphragmatic hernia: diagnostic approaches with review of the literature

    Energy Technology Data Exchange (ETDEWEB)

    Eren, Suat [Department of Radiology, Faculty of Medicine, Atatuerk University, 25240 Erzurum (Turkey)]. E-mail: suateren@atauni.edu.tr; Ciris, Fahri [Department of Radiology, Faculty of Medicine, Atatuerk University, 25240 Erzurum (Turkey)

    2005-06-01

    Because surgical repair is indicated for the treatment of diaphragmatic hernia (DH), preoperative imaging of the diaphragmatic defect, hernia content, and associated complications with other organ's pathologies is important. While various techniques can be used on imaging of DHs, selection of the most effective but the least invasive technique will present the most accurate findings about DH, and will facilitate the management of DH. We reviewed the diaphragmatic hernia types associated with our cases, and we discussed the preferred imaging modalities for different DHs with review of the literature. We evaluated the imaging findings of 21 DH cases. They were Morgagni's hernia (n = 4), Bochdalek hernia (n = 2), iatrogenic DH (n = 4), traumatic DH (n = 6), and hiatal hernia (n = 5). Although its limited findings on DH and indirect findings about the diaphragmatic rupture, plain radiography is firstly preferred technique on DH. We found that ultrasound (US) is a useful tool on DH, on traumatic DH cases especially. Not only it shows diaphragmatic continuity and herniated organs, but also it reveals associated abdominal organ's pathologies. Computed tomography (CT) scan is most effective in many DH cases. It shows the herniated abdominal organs together with complications, such as intestinal strangulation, haemothorax, and rib fractures. We stressed that Multislice CT scan with coronal and sagittal reformatted images is the most effective and useful imaging technique on DH. With high sensitivity for soft tissue, MR imaging may be performed in the selected patients, on the late presenting DH cases or on the cases of the diagnosis still in doubt especially.

  2. Congenitally corrected transposition

    Directory of Open Access Journals (Sweden)

    Debich-Spicer Diane

    2011-05-01

    Full Text Available Abstract Congenitally corrected transposition is a rare cardiac malformation characterized by the combination of discordant atrioventricular and ventriculo-arterial connections, usually accompanied by other cardiovascular malformations. Incidence has been reported to be around 1/33,000 live births, accounting for approximately 0.05% of congenital heart malformations. Associated malformations may include interventricular communications, obstructions of the outlet from the morphologically left ventricle, and anomalies of the tricuspid valve. The clinical picture and age of onset depend on the associated malformations, with bradycardia, a single loud second heart sound and a heart murmur being the most common manifestations. In the rare cases where there are no associated malformations, congenitally corrected transposition can lead to progressive atrioventricular valvar regurgitation and failure of the systemic ventricle. The diagnosis can also be made late in life when the patient presents with complete heart block or cardiac failure. The etiology of congenitally corrected transposition is currently unknown, and with an increase in incidence among families with previous cases of congenitally corrected transposition reported. Diagnosis can be made by fetal echocardiography, but is more commonly made postnatally with a combination of clinical signs and echocardiography. The anatomical delineation can be further assessed by magnetic resonance imaging and catheterization. The differential diagnosis is centred on the assessing if the patient is presenting with isolated malformations, or as part of a spectrum. Surgical management consists of repair of the associated malformations, or redirection of the systemic and pulmonary venous return associated with an arterial switch procedure, the so-called double switch approach. Prognosis is defined by the associated malformations, and on the timing and approach to palliative surgical care.

  3. Analysis of diaphragmatic movement before and after pulmonary rehabilitation using fluoroscopy imaging in patients with COPD

    Directory of Open Access Journals (Sweden)

    Chun EM

    2015-01-01

    Full Text Available Eun Mi Chun,1 Soo Jeong Han,2 Hitesh N Modi3 1Division of Pulmonary and Critical Care Medicine, Department of Internal Medicine, Seoul, Republic of Korea; 2Rehabilitation Medicine, Ewha Womans University School of Medicine, Seoul, Republic of Korea; 3Scoliosis Research Institute, Department of Orthopedics, Korea University Guro Hospital, Seoul, Republic of Korea Background: The diaphragm is the principal inspiratory muscle. The purpose of this study was to assess improvements in diaphragmatic movement before and after pulmonary rehabilitation in patients with chronic obstructive pulmonary disease (COPD, using a fluoroscopy-guided chest X-ray.Patients and methods: Among 117 patients with COPD receiving pulmonary rehabilitation who underwent the initial fluoroscopy-guided chest X-ray and pulmonary function test, 37 of those patients who underwent both initial and follow-up fluoroscopy and pulmonary function tests were enrolled in this study. After hospital education, participants received pulmonary rehabilitation through regular home-based training for at least 3 months by the same physiatrist. We assessed the changes in diaphragm area with fluoroscopy-guided posteroanterior chest X-rays between pre- and postpulmonary rehabilitation. To minimize radiation hazards for subjects, the exposure time for fluoroscopy to take chest X-rays was limited to less than 5 seconds.Results: There were significant improvements (2,022.8±1,548.3 mm² to 3,010.7±1,495.6 mm² and 2,382.4±1,475.9 mm² to 3,315.9±1,883.5 mm²; right side P=0.001 and left side P=0.019, respectively in diaphragmatic motion area during full inspiration and expiration in both lungs after pulmonary rehabilitation. Pulmonary function tests showed no statistically significant difference between pre- and postpulmonary rehabilitation.Conclusion: The study suggests that the strategy to assess diaphragm movement using fluoroscopy is a relatively effective tool for the evaluation of pulmonary

  4. Analysis of diaphragmatic movement before and after pulmonary rehabilitation using fluoroscopy imaging in patients with COPD.

    Science.gov (United States)

    Chun, Eun Mi; Han, Soo Jeong; Modi, Hitesh N

    2015-01-01

    The diaphragm is the principal inspiratory muscle. The purpose of this study was to assess improvements in diaphragmatic movement before and after pulmonary rehabilitation in patients with chronic obstructive pulmonary disease (COPD), using a fluoroscopy-guided chest X-ray. Among 117 patients with COPD receiving pulmonary rehabilitation who underwent the initial fluoroscopy-guided chest X-ray and pulmonary function test, 37 of those patients who underwent both initial and follow-up fluoroscopy and pulmonary function tests were enrolled in this study. After hospital education, participants received pulmonary rehabilitation through regular home-based training for at least 3 months by the same physiatrist. We assessed the changes in diaphragm area with fluoroscopy-guided posteroanterior chest X-rays between pre- and postpulmonary rehabilitation. To minimize radiation hazards for subjects, the exposure time for fluoroscopy to take chest X-rays was limited to less than 5 seconds. There were significant improvements (2,022.8±1,548.3 mm(2) to 3,010.7±1,495.6 mm(2) and 2,382.4±1,475.9 mm(2) to 3,315.9±1,883.5 mm(2); right side P=0.001 and left side P=0.019, respectively) in diaphragmatic motion area during full inspiration and expiration in both lungs after pulmonary rehabilitation. Pulmonary function tests showed no statistically significant difference between pre- and postpulmonary rehabilitation. The study suggests that the strategy to assess diaphragm movement using fluoroscopy is a relatively effective tool for the evaluation of pulmonary rehabilitation in COPD patients in terms of cost and time savings compared with computed tomography or magnetic resonance imaging.

  5. Congenital melanocytic nevi management: question

    Directory of Open Access Journals (Sweden)

    Stefania Guida

    2016-03-01

    Full Text Available A 12-year-old girl presented to our attention for a pigmented lesion having greatest diameter of 2.5 cm, located on her left forehead, involving the ipsilateral eyebrow. This lesion had appeared as a flat brown macule at birth. With passing years, the lesion showed an increased diameter and thickness and it became progressively darker.1. What reasons can justify the excision of congenital melanocytic nevi?2. Which treatment do you think would be more appropriate?3. Is there a right age to remove a congenital melanocytic nevus?

  6. Ruptura traumática do diafragma: aspectos na tomografia computadorizada Traumatic diaphragmatic rupture: computed tomography findings

    Directory of Open Access Journals (Sweden)

    Alessandro Severo Alves de Melo

    2002-11-01

    Full Text Available A ruptura traumática do diafragma é uma condição incomum, porém cada vez mais freqüentemente diagnosticada pela tomografia computadorizada, especialmente pela técnica helicoidal associada às reconstruções multiplanares, possibilitando a adoção de conduta terapêutica cirúrgica rápida e eficiente. Os autores estudaram seis pacientes com ruptura traumática do diafragma submetidos a tomografia computadorizada, que demonstrou herniação de estruturas abdominais para o interior do tórax através de área de ruptura na hemicúpula frênica esquerda em quatro casos; os outros dois pacientes foram submetidos a procedimento cirúrgico por trauma abdominal associado, que demonstrou lesões diafragmáticas, sem evidência de herniação na tomografia computadorizada.Traumatic diaphragmatic rupture is an uncommon condition that has been diagnosed more frequently with the aid of computed tomography, particularly when using helical technique in association with multiplanar reconstructions. This technique allows adoption of an efficient and quick surgical therapeutic approach. The authors studied six patients with traumatic diaphragmatic rupture that were submitted to computed tomography. In four of the patients there was herniation of intraabdominal viscera through a site of rupture in the left diaphragm. The two other patients underwent surgery due to abdominal injuries, which revealed diaphragmatic lesions but no herniation of intraabdominal viscera.

  7. Non-compact left ventricle/hypertrabeculated left ventricle

    International Nuclear Information System (INIS)

    Restrepo, Gustavo; Castano, Rafael; Marmol, Alejandro

    2005-01-01

    Non-compact left ventricle/hypertrabeculated left ventricle is a myocardiopatie produced by an arrest of the normal left ventricular compaction process during the early embryogenesis. It is associated to cardiac anomalies (congenital cardiopaties) as well as to extracardial conditions (neurological, facial, hematologic, cutaneous, skeletal and endocrinological anomalies). This entity is frequently unnoticed, being diagnosed only in centers with great experience in the diagnosis and treatment of myocardiopathies. Many cases of non-compact left ventricle have been initially misdiagnosed as hypertrophic myocardiopatie, endocardial fibroelastosis, dilated cardiomyopatie, restrictive cardiomyopathy and endocardial fibrosis. It is reported the case of a 74 years old man with a history of chronic arterial hypertension and diabetes mellitus, prechordial chest pain and mild dyspnoea. An echocardiogram showed signs of non-compact left ventricle with prominent trabeculations and deep inter-trabecular recesses involving left ventricular apical segment and extending to the lateral and inferior walls. Literature on this topic is reviewed

  8. Delayed intestinal obstruction due to posttraumatic diaphragmatic hernia.

    Science.gov (United States)

    Menéndez-Sánchez, Pablo; Villarejo-Campos, Pedro; Padilla-Valverde, David; Sánchez-García, Susana; Jara-Sánchez, Alberto

    2012-01-01

    Diaphragmatic rupture can be missed during trauma diagnosis. Different pressures between the thorax and the abdomen allow the abdominal viscera to herniate into the chest cavity. Cardiorespiratory and abdominal symptoms may appear later due to passive compression and incarceration, respectively. We report the case of a 52-year-old female with abdominal pain and vomiting. Chest x-ray demonstrated an elevation of the right hemidiaphragm, and computed tomography showed herniation of small bowel and colon into the chest cavity with dilated small bowel due to a diaphragmatic hernia. History of traumatic events should be considered with high suspicion in the diagnostic process to avoid delayed diagnosis of this condition. The nonspecific symptoms of this condition often lead the patient to consult different specialists. A multidisciplinary approach is required and aimed at preventing an unnecessary increase of morbidity and mortality.

  9. Congenital amusias.

    Science.gov (United States)

    Tillmann, B; Albouy, P; Caclin, A

    2015-01-01

    In contrast to the sophisticated music processing reported in the general population, individuals with congenital amusia show deficits in music perception and production. Congenital amusia occurs without brain damage, sensory or cognitive deficits, and has been suggested as a lifelong deficit with genetic origin. Even though recognized for a long time, this disorder has been systematically studied only relatively recently for its behavioral and neural correlates. The currently most investigated hypothesis about the underlying deficits concerns the pitch dimension, notably with impaired pitch discrimination and memory. Anatomic and functional investigations of pitch processing revealed that the amusic brain presents abnormalities in the auditory and inferior frontal cortices, associated with decreased connectivity between these structures. The deficit also impairs processing of pitch in speech material and processing of the time dimension in music for some of the amusic individuals, but does not seem to affect spatial processing. Some studies suggest at least partial dissociation in the disorder between perception and production. Recent studies revealed spared implicit pitch perception in congenital amusia, supporting the power of implicit cognition in the music domain. Current challenges consist in defining different subtypes of congenital amusia as well as developing rehabilitation programs for this "musical handicap." © 2015 Elsevier B.V. All rights reserved.

  10. Chronic diaphragmatic hernia in 34 dogs and 16 cats.

    Science.gov (United States)

    Minihan, Anne C; Berg, John; Evans, Krista L

    2004-01-01

    Medical records of 34 dogs and 16 cats undergoing surgical repair of diaphragmatic hernia of >2 weeks' duration were reviewed, and long-term follow-up information was obtained. The most common clinical signs were dyspnea and vomiting; however, many of the animals were presented for nonspecific signs such as anorexia, lethargy, and weight loss. Thoracic radiographs revealed evidence of diaphragmatic hernia in only 66% of the animals, and additional imaging tests were often needed to confirm the diagnosis. Thirty-six hernias were repaired through a midline laparotomy; 14 required a median sternotomy combined with a laparotomy. In 14 animals, division of mature adhesions of the lungs or diaphragm to the herniated organs was necessary to permit reduction of the hernia. Fourteen animals required resection of portions of the lungs, liver, or intestine. All hernias were sutured primarily without the use of tissue flaps or mesh implants. Twenty-one of the animals developed transient complications in the postoperative period; the most common of these was pneumothorax. The mortality rate was 14%. Thirty-four (79%) of the animals that were discharged from the hospital had complete resolution of clinical signs, and none developed evidence of recurrent diaphragmatic hernia during the follow-up period. Nine were lost to follow-up.

  11. Diaphragmatic fatigue during inspiratory muscle loading in normoxia and hypoxia.

    Science.gov (United States)

    Walker, David Johannes; Farquharson, Franziska; Klenze, Hannes; Walterspacher, Stephan; Storz, Lucia; Duerschmied, Daniel; Roecker, Kai; Kabitz, Hans-Joachim

    2016-06-15

    Diaphragmatic fatigue (DF) occurs during strenuous loading of respiratory muscles (e.g., heavy-intensity whole-body exercise, normocapnic hyperpnea, inspiratory resistive breathing). DF develops early on during normoxia, without further decline toward task failure; however, its progression during inspiratory muscle loading in during hypoxia remains unclear. Therefore, the present study used volume-corrected transdiaphragmatic pressures during supramaximal magnetic phrenic nerve stimulation (Pdi,twc) to investigate the effect of hypoxia on the progression of diaphragmatic fatigue during inspiratory muscle loading. Seventeen subjects completed two standardized rounds of inspiratory muscle loading (blinded, randomized) under the following conditions: (i) normoxia, and (ii) normobaric hypoxia (SpO2 80%), with Pdi,twc assessment every 45 s. In fatiguers (i.e., Pdi,twc reduction >10%, n=10), biometric approximation during normoxia is best represented by Pdi,twc=4.06+0.83 exp(-0.19 × x), in contrast to Pdi,twc=4.38-(0.05 × x) during hypoxia. Progression of diaphragmatic fatigue during inspiratory muscle loading assessed by Pdi,tw differs between normoxia and normobaric hypoxia: in the former, Pdi,tw follows an exponential decay, whereas during hypoxia, Pdi,tw follows a linear decline. Copyright © 2016 Elsevier B.V. All rights reserved.

  12. Left Paraduodenal Hernia: An Autopsy Case

    DEFF Research Database (Denmark)

    Omland, Silje Haukali; Hougen, Hans Petter

    2011-01-01

    We present a case of a left paraduodenal hernia diagnosed at autopsy. A left paraduodenal hernia is an internal hernia of congenital origin due to the abnormal rotation of the midgut during embryonic development. Internal hernias are a rare cause of intestinal obstruction, with the paraduodenal...

  13. Video-assisted thoracoscopic implantation of a diaphragmatic pacemaker in a child with tetraplegia: indications, technique, and results.

    Science.gov (United States)

    Filho Pinto, Darcy Ribeiro; Tedde, Miguel Lia; Avino, Alexandre José Gonçalves; Brandão, Suzan Lúcia Brancher; Zanatta, Iuri; Hahn, Rafael

    2015-01-01

    We report the case of a child with tetraplegia after cervical trauma, who subsequently underwent diaphragmatic pacemaker implantation. We reviewed the major indications for diaphragmatic pacing and the types of devices employed. We highlight the unequivocal benefit of diaphragmatic pacing in the social and educational reintegration of individuals with tetraplegia.

  14. Video-assisted thoracoscopic implantation of a diaphragmatic pacemaker in a child with tetraplegia: indications, technique, and results*

    Science.gov (United States)

    Pinto, Darcy Ribeiro; Tedde, Miguel Lia; Avino, Alexandre José Gonçalves; Brandão, Suzan Lúcia Brancher; Zanatta, Iuri; Hahn, Rafael

    2015-01-01

    We report the case of a child with tetraplegia after cervical trauma, who subsequently underwent diaphragmatic pacemaker implantation. We reviewed the major indications for diaphragmatic pacing and the types of devices employed. We highlight the unequivocal benefit of diaphragmatic pacing in the social and educational reintegration of individuals with tetraplegia. PMID:25750678

  15. Video-assisted thoracoscopic implantation of a diaphragmatic pacemaker in a child with tetraplegia: indications, technique, and results

    Directory of Open Access Journals (Sweden)

    Darcy Ribeiro Pinto Filho

    2015-02-01

    Full Text Available We report the case of a child with tetraplegia after cervical trauma, who subsequently underwent diaphragmatic pacemaker implantation. We reviewed the major indications for diaphragmatic pacing and the types of devices employed. We highlight the unequivocal benefit of diaphragmatic pacing in the social and educational reintegration of individuals with tetraplegia.

  16. [Congenital hydrocephalus].

    Science.gov (United States)

    Malagón-Valdez, J

    2006-04-10

    Congenital hydrocephalus or ventriculomegaly is a disorder that now can be diagnosed in uterus with ultrasonography, this gives the chance of being able to give a treatment the earliest as possible. The clinical manifestations are reviewed, the diagnosis, the frequent treatment and causes of congenital hydrocephalus, being the first agenesis of the Sylvius' aqueduct, followed by Arnold-Chiari's malformations with mielomeningocele. In most of the cases the peritoneal-ventricle shunt is the best surgery treatment and now, the treatment with ventriculostomy of third ventricle by endoscopy has fewer complications apparently and in several cases it is the definitive treatment. The evolution of the diagnosis with the support of specific therapies is effective and the early treatment is good, of course taking into account the etiology.

  17. Traumatic diaphragmatic hernia in a 5-month-old boxer dog.

    Science.gov (United States)

    Hoddinott, Katie

    2013-05-01

    A 5-month-old intact male boxer dog was presented to the Metro Animal Emergency Clinic, Dartmouth, Nova Scotia after being hit by a car. Radiography identified a diaphragmatic hernia with the stomach herniated into the thoracic cavity. Diaphragmatic herniorrhaphy and splenectomy were performed without complication. The patient returned to his regular active lifestyle.

  18. Diaphragmatic rupture with right colon and small intestine herniation after blunt trauma: a case report

    Directory of Open Access Journals (Sweden)

    Muroni Mirko

    2010-08-01

    Full Text Available Abstract Introduction Traumatic diaphragmatic hernias are an unusual presentation of trauma, and are observed in about 10% of diaphragmatic injuries. The diagnosis is often missed because of non-specific clinical signs, and the absence of additional intra-abdominal and thoracic injuries. Case presentation We report a case of a 59-year-old Italian man hospitalized for abdominal pain and vomiting. His medical history included a blunt trauma seven years previously. A chest X-ray showed right diaphragm elevation, and computed tomography revealed that the greater omentum, a portion of the colon and the small intestine had been transposed in the hemithorax through a diaphragm rupture. The patient underwent laparotomy, at which time the colon and small intestine were reduced back into the abdomen and the diaphragm was repaired. Conclusions This was a unusual case of traumatic right-sided diaphragmatic hernia. Diaphragmatic ruptures may be revealed many years after the initial trauma. The suspicion of diaphragmatic rupture in a patient with multiple traumas contributes to early diagnosis. Surgical repair remains the only curative treatment for diaphragmatic hernias. Prosthetic patches may be a good solution when the diaphragmatic defect is severe and too large for primary closure, whereas primary repair remains the gold standard for the closure of small to moderate sized diaphragmatic defects.

  19. [Congenital aniridia].

    Science.gov (United States)

    Chiruţa, Daria; Stan, Cristina

    2014-01-01

    Aniridia is a rare congenital, hereditary, bilateral disease which is associated with various systemic and ocular defects. We present the case of a 61 year old patient who was admitted in the hospital of ophthalmology Cluj Napoca, for the symptoms caused by the ocular defects associated with aniridia. In this case, aniridia is autosomal dominant transmitted with incomplete penetrance and it is not accompanied by any systemic defects. The disease also affects three of her sons and two nephews of the patient.

  20. Congenital Hydrocephalus.

    Science.gov (United States)

    Estey, Chelsie M

    2016-03-01

    There are several types of hydrocephalus, which are characterized based on the location of the cerebrospinal fluid (CSF) accumulation. Physical features of animals with congenital hydrocephalus may include a dome-shaped skull, persistent fontanelle, and bilateral ventrolateral strabismus. Medical therapy involves decreasing the production of CSF. The most common surgical treatment is placement of a ventriculoperitoneal shunt. Postoperative complications may include infection, blockage, drainage abnormalities, and mechanical failure. Copyright © 2016 Elsevier Inc. All rights reserved.

  1. Congenital toxoplasmosis.

    Science.gov (United States)

    Kieffer, François; Wallon, Martine

    2013-01-01

    Congenital toxoplasmosis results from the transplacental transmission of the parasite Toxoplasma gondii after a maternal infection acquired in pregnancy. Prevalence of congenital infection ranges from 0.1 to 0.3 per 1000 live births. The maternal-fetal transmission rate increases with gestational age at maternal seroconversion, from less than 15% at 13 weeks of gestation to over 70% at 36 weeks. Conversely, the later the maternal infection, the lower the risk of symptomatic congenital infection (infections acquired during the third trimester are most often asymptomatic at birth). Prenatal diagnosis is currently performed by PCR analysis in amniotic fluid. Antenatal management and treatment vary considerably among countries. In some European countries, maternal infections are detected through serological screening allowing a prompt treatment with spiramycin, which is expected to reduce the risk of vertical transmission. If PCR analysis in amniotic fluid is positive or if maternal infection was acquired in the third trimester of pregnancy, a combination with pyrimethamine and sulphonamide is given until delivery. Benefits of antenatal treatments remain controversial. Infected newborns are prescribed pyrimethamine and sulphonamide for 12 months. Despite antenatal and postnatal treatment, chorioretinitis can occur at any age (prevalence>20% at 10 years of age): long-term ophthalmological follow-up remains necessary. Copyright © 2013 Elsevier B.V. All rights reserved.

  2. Posterolateral Bochdalek diaphragmatic hernia in adults Hernia diafragmática posterolateral de Bochdalek en el adulto

    Directory of Open Access Journals (Sweden)

    José Maximiliano Garófano-Jerez

    2011-09-01

    Full Text Available Bochdalek hernias (BHs are produced in the posterolateral area of the diaphragm. They are generally congenital, appearing in childhood, but are also detected in asymptomatic adult patients seeking medical attention for other reasons. Computed tomography (CT or magnetic resonance imaging (MRI is used for the correct diagnosis of the hernia type and for its localization, facilitating its management and the choice of treatment. We describe three cases of Bochdalek hernia, two on the right side and one bilateral, which was larger on the right than left side. All of these hernias contained only omental fat. In one patient, the right kidney was adjacent to the diaphragmatic defect but remained within the abdomen. The patients showed no symptoms and were not surgically treated. Examination by multi-slice CT with the possibility of coronal and sagittal reconstruction should be considered the standard method for diagnosing this entity. MRI in T1 is highly valuable to evaluate fat-containing chest lesions. The incidental finding of BH in asymptomatic adults is increasing, thanks to the wider application of new imaging techniques.Las hernias de Bochdalek se producen a través de la zona posterolateral del diafragma. Generalmente son congénitas y se presentan en la infancia, pero pueden verse también en la edad adulta en pacientes asintomáticos, que consultan por patologías diversas. El uso de tomografía computarizada o resonancia magnética permite el diagnóstico correcto del tipo y localización de la hernia, lo cual facilitará su manejo y la elección del tratamiento. Presentamos 3 casos clínicos, dos tenían una hernia de Bochdalek derecha, y, el otro caso es bilateral, siendo mayor la situada en el lado derecho. En todos nuestros casos, el contenido ha sido únicamente grasa omental. No obstante, en uno de ellos, el riñón derecho se situaba adyacente al defecto diafragmático, pero dentro del abdomen. Debido a la ausencia de sintomatolog

  3. Is video-assisted thoracoscopic diaphragmatic plication a widespread technique for diaphragmatic hernia in adults? Review of the literature and results of a national survey.

    Science.gov (United States)

    Rombolá, Carlos A; Genovés Crespo, Marta; Tárraga López, Pedro J; García Jiménez, María Dolores; Honguero Martínez, Antonio F; León Atance, Pablo; Rodríguez Ortega, Claudia R; Triviño Ramírez, Ana; Rodríguez Montes, José Antonio

    2014-01-01

    Diaphragmatic plication is the most accepted treatment for symptomatic diaphragmatic hernia in adults. The fact that this pathology is infrequent and this procedure not been widespread means that this is an exceptional technique in our field. To estimate its use in the literature, we carried out a review in English and Spanish, to which we added our series. We found only six series that contribute 59 video-assisted mini-thoractomy for diaphragmatic plications in adults, and none in Spanish. Our series will be the second largest with 18 cases. Finally, we conducted a survey in all the Spanish Thoracic Surgery units in Spain: none reported more than 10 cases operated by thoracoscopy in the last 8 years (except our series) and most continue employing thoracotomy as the main approach. We believe that many patients with symptomatic diaphragmatic hernia could benefit from the use of such techniques. Copyright © 2013 AEC. Published by Elsevier Espana. All rights reserved.

  4. Congenital neuroblastoma with placental involvement

    OpenAIRE

    Kume, Ayako; Morikawa, Teppei; Ogawa, Makiko; Yamashita, Aki; Yamaguchi, Shunichi; Fukayama, Masashi

    2014-01-01

    We describe an extremely rare case of congenital neuroblastoma with placental involvement. A fetus with a left abdominal mass detected during ultrasonography at 23 weeks’ gestation developed hydrops fetalis by 26 weeks’ gestation. The mother developed hypertension at 26 5/7 weeks’ gestation. Based on a clinical diagnosis of pregnancy-induced hypertension, labor was induced at 26 6/7 weeks. However, intrauterine fetal death was diagnosed during delivery. Postmortern examination revealed a soli...

  5. Peritoneopericardial diaphragmatic hernia in a male cat - a case report

    International Nuclear Information System (INIS)

    Bicek, J.; Slaby, J.; Ordosova, K.

    2002-01-01

    A clinical case of peritoneopericardial diaphragmatic hernia in a 7-months old Persian male cat is reported. The diagnosis was established after clinical examination, blood work and radiology, being finally confirmed by ultrasonography. Approach to the defect via ventral midline cranial celiotomy was chosen. Intrapericardially localised hepatic lobes and greater omentum were repositioned by traction and annulorrhaphy was performed. No complications occurred during convalescense and good long-term prognosis was predicted. Etiology, clinical signs and diagnosis of the disease are discussed and surgical solution is described, including a short discussion of surgical risks and complications

  6. Radiological features of 80 cases of diaphragmatic rupture

    International Nuclear Information System (INIS)

    Sullivan, M.; Lee, R.

    1989-01-01

    The films from 80 cases of diaphragmatic rupture in the dog and cat over a 10 year period were examined. The most common findings were loss of the cupola and masking of the cardiac shadow. Identification of the stomach or intestine in the thorax made the diagnosis straightforward. However, in some animals these organs were not visible and there was considerable accumulation of free pleural fluid. The use of barium contrast studies and post drainage films were unable to confirm the presence of a rupture in all cases with inconclusive plain film findings. The identification of a rupture was only made by exploratory surgery in these animals

  7. Impact of target blood gases on outcome in congenital diaphragmatic hernia (CDH).

    Science.gov (United States)

    Brindle, M E; Ma, I W Y; Skarsgard, E D

    2010-09-01

    Neonatal intensive care unit (NICU) stabilization strategies which normalize physiology according to predetermined blood gas targets may contribute to observed improved survival rates of patients with CDH. The purpose of our study was to compare risk-adjusted outcomes of CDH patients managed with or without blood gas targets established at NICU admission. Cases were collected from a national CDH network between May 2005 and November 2007. On NICU admission, the responsible neonatologist was asked to establish target ranges for pH, pCO (2), pO (2), and pre/post-ductal O (2) saturation. The outcomes analyzed were mortality, need for ECMO, days of mechanical ventilation/supplemental oxygen, and length of stay. Of 147 CDH infants, 63 had admission blood gas targets. Severity of illness and gestational age in both groups were comparable (SNAP-II score). Infants with blood gas targets had a significantly lower mortality than those without (Hazard ratio 0.27, p=0.006). Blood gas targets for the management of infants with CDH are associated with improved survival. Although the willingness to create and use stabilization targets to guide early NICU care may be a surrogate for other factors (experience, staffing, lack of interest), it is clearly associated with improved survival in CDH. © Georg Thieme Verlag KG Stuttgart · New York.

  8. Hearing loss in congenital diaphragmatic hernia (CDH) survivors: is it as prevalent as we think?

    Science.gov (United States)

    Wilson, Marnie Goodwin; Riley, Patricia; Hurteau, Anne-Marie; Baird, Robert; Puligandla, Pramod S

    2013-05-01

    The incidence of sensorineural hearing loss (SNHL;>20 dB loss) in CDH survivors is debated. We evaluated long-term audiological outcomes at a single tertiary care center with ECMO capability and an established neonatal follow-up program. With REB approval, records of CDH survivors from 2000 to 2010 were retrospectively analyzed. Demographic, postnatal, and audiometric information was gathered. All underwent auditory brainstem response (ABR) or otoacoustic emissions screening before discharge and complete audiological surveillance. Thirty-three patients were evaluated to age 4+ years with others continuing follow-up. Forty-three patient records were reviewed with 1 excluded (transferred to another institution). Median GA and BW were 39 weeks (35-41) and 3.1 kg (2-4), respectively. Median ventilation days were 10 (2-189) with 34 infants ventilated 5+ days. Sixteen (36%) received HFOV, 21 (49%) iNO, and 5 (12%) ECMO. The median time to CDH repair was 3 days (1-23), and 11 (26%) required patch repair. Nine infants (21%) received diuretics and oxygen after discharge. Audiological surveillance identified only one patient with SNHL (received HFO, iNO, and patch repair). Neonatal screening identifies CDH survivors at risk for hearing difficulties but must be followed with comprehensive testing until school age. The incidence of SNHL may be less than previously reported in this population. Copyright © 2013 Elsevier Inc. All rights reserved.

  9. [Are in-utero interventions justified?--perspective of neonatologists. Part I. Congenital diaphragmatic hernia (CDH)].

    Science.gov (United States)

    Dabrowska, Katarzyna; Gadzinowski, Janusz

    2011-05-01

    In-utero interventions are often perceived by parents as the only hope for their unborn child. Because it is neonatologists who have to deal with a sick newborn and sometimes unrealistic optimism of the parents after delivery we have taken on the task of reviewing the current knowledge concerning fetal surgeries from the neonatologist's perspective. In the first of three parts we have analyzed the data for in-utero interventions for CDH. Our main objective was to evaluate available data and to ascertain whether performing fetal surgeries for CDH is justified. Review of available literature on the subject of in-utero interventions in the fetuses with CDH was performed. Pubmed and Cochrane library were searched for relevant publications, in particular for randomized controlled trials. In randomized controlled trial (RCT), the in-utero intervention did not improve the outcome. The results of uncontrolled clinical trials suggest that it may be beneficial in cases with severe lung hypoplasia. The RCT testing the efficacy of the procedure performed later in pregnancy in moderately severe cases in currently under way In-utero interventions might improve survival in a carefully selected group of patients with CDH. However the evidence to support this claim is not strong, and until more data is available, in-utero interventions for CDH should only be performed in specialized centers as part of controlled clinical trial.

  10. Congenital Diaphragmatic Hernia in the Neonatal Period: Review of 21 Years' Experience

    Directory of Open Access Journals (Sweden)

    Pei-Hsin Chao

    2010-04-01

    Conclusion: Seventy-nine percent of our CDH patients survived to hospital discharge. Resuscitation by a skilled neonatology team to prevent low Apgar scores and low pH, careful evaluation of other anomalies, and overcoming pulmonary hypertension might improve the survival rate. Recognizing unfavorable factors in CDH may help clinicians manage the critical care of these babies.

  11. Lung volumes and distribution of ventilation in survivors to congenital diaphragmatic hernia (CDH) during infancy.

    Science.gov (United States)

    Dotta, Andrea; Palamides, Sabrina; Braguglia, Annabella; Crescenzi, Francesco; Ronchetti, Maria Paola; Calzolari, Flaminia; Iacobelli, Barbara Daniela; Bagolan, Pietro; Corchia, Carlo; Orzalesi, Marcello

    2007-07-01

    The assessment of lung volumes, particularly functional residual capacity (FRC), is crucial for understanding lung development during infancy in CDH patients. To evaluate changes in lung function during infancy in subjects with CDH treated with a "gentle ventilation" technique and delayed surgery strategy in the neonatal period. 13 CDH infants were studied twice and compared with a population of 28 healthy infants (HI). Tidal-Volume (Vt), respiratory rate (RR) and time to peak expiratory flow/expiratory time ratio (tPTEF/Te) were measured with an ultrasonic flow meter; Compliance (Crs) and Resistance (Rrs) of the respiratory system were studied with the single occlusion technique; FRC and Lung Clearance Index (LCI), were assessed with the sulfur hexafluoride (SF6) wash-in/wash-out technique. The differences between the first (T1) and second (T2) measurement in the CDH group were assessed by the Student's t-test for paired values. For each set of measurement (T1 and T2) the values were compared with HI by Student's t-test. Mean age at test was 7.5 +/- 5.2 months for HI, 4.5 +/- 2.5 at T1 and 11.9 +/- 4.5 months at T2 for CDH infants. At T1 there were no significant differences between CDH infants and HI in Vt, Crs, and FRC, while tPTEF/te ratio was lower and RR, Rrs, and LCI were higher in CDH patients than in HI. At T2 Vt, Crs, and FRC remained normal in CDH patients as well as RR that, at this time was not different between CDH and healthy infants; tPTEF/te remained below and Rrs and LCI remained above normal ranges, indicating a persistent impairment in lower airways patency. Lung function in infants with severe CDH is characterized by a persistent impairment in airways patency and significant inhomogeneity of ventilation, suggesting a peripheral bronchial obstruction even if the other lung function tests are within normal ranges.

  12. Short-term weight gain velocity in infants with congenital diaphragmatic hernia (CDH).

    Science.gov (United States)

    Gien, Jason; Murthy, Karna; Pallotto, Eugenia K; Brozanski, Beverly; Chicoine, Louis; Zaniletti, Isabella; Seabrook, Ruth; Keene, Sarah; Alapati, Deepthi; Porta, Nicolas; Rintoul, Natalie; Grover, Theresa R

    Appropriate post-natal growth remains a mainstay of therapeutic goals for infants with CDH, with the hypothesis that optimizing linear growth will improve survival through functional improvements in pulmonary hypoplasia. However, descriptions of growth and the effect on survival are limited in affected infants. Describe in-hospital weight gain related to survival among infants with CDH. Children's Hospitals Neonatal Database (CHND) identified infants with CDH born ≥34weeks' gestation (2010-14). Exclusion criteria were: admission age>7days, death/discharge ageCDH repair prior to admission. Weight gain velocity (WGV: g/kg/day) was calculated using an established exponential approximation and the cohort stratified by Q1: 75%ile. Descriptive measures and unadjusted Kaplan-Meier analyses describe the implications of WGV on mortality/discharge. In 630 eligible infants, median WGV was 4.6g/kg/day. After stratification by WGV [Q1: (n=156; 5.9g/kg/day)] infants in Q1 had shortest median length of stay, less time on TPN and intervention for gastro-esophageal reflux relative to the other WGV strata (pCDH. Highest and lowest WGV appear to be related to adverse outcomes. Efforts are needed to develop nutritional strategies targeting optimal growth. Copyright © 2017 Elsevier B.V. All rights reserved.

  13. Late return of function after intrathoracic torsion of the spleen in congenital diaphragmatic hernia

    DEFF Research Database (Denmark)

    Thorup, Jørgen Mogens; Pedersen, P V

    1986-01-01

    , and the spleen were intrathoracic. There was a 720 degree torsion of the splenic pedicle. After reduction, the spleen was placed in the abdomen. At scintiscans 12 days and 14 weeks after operation, no certain splenic function was demonstrated, but at follow-up up 21/2 years later the splenic scan was normal....

  14. Congenital Dermatofibrosarcoma Protuberans: A Case Report and Literature Review

    OpenAIRE

    Han, Hyun Ho; Lim, Soo Yeon; Park, Young Min; Rhie, Jong Won

    2015-01-01

    Congenital dermatofibrosarcoma protuberans (DFSP) is an extremely rare skin tumor that is commonly misdiagnosed, or is often diagnosed long after the initial presentation. Although many cases of DFSP are diagnosed in adulthood, there are some differences between adult DFSP and congenital DFSP. We report a case of congenital DFSP that was initially misdiagnosed as a simple vascular lesion. The delay in diagnosis led to the considerable growth of the lesion, such that a huge scar was left after...

  15. Fatal Diaphragmatic Hernia following Radiofrequency Ablation for Hepatocellular Carcinoma: A Case Report and Literature Review

    Directory of Open Access Journals (Sweden)

    Tomoko Saito

    2015-05-01

    Full Text Available An 81-year-old man was admitted to our hospital because of right quadrant abdominal pain. On admission, his liver function was Child-Pugh grade C (10 points. Computed tomography (CT revealed a diaphragmatic herniation of bowel loops into the right thoracic cavity, accompanied by pleural effusion. Although diaphragmatic hernia was successfully repaired by emergency surgery, he died of liver failure 23 days after the surgery. A retrospective reading of CT images revealed the presence of diaphragmatic injury after radiofrequency ablation (RFA which had been conducted 33 months before the development of diaphragmatic hernia. Of importance, the lesion of the diaphragmatic injury was located on the estimated needle track of RFA for hepatocellular carcinomas in segment 5 and segment 5/8, but not adjacent to their ablation areas. Subsequently, diaphragmatic perforation had been observed 24 months before admission. This suggests that diaphragmatic hernia caused by RFA is not necessarily due to thermal damage of ablation and is possibly life-threatening, at least in some patients with an impaired liver function.

  16. Congenital hemihypertrophy with hemihypertrichosis.

    Science.gov (United States)

    Akarsu, Saadet; Coskun, Basak Kandi; Aydin, Ayse Murat; Tekatli, Muhittin; Aygun, A Denizmen

    2005-06-01

    The rare condition in which one side of the body seems to grow faster than the other is called hemihypertrophy. This may be accepted as normal, but there are certain serious conditions that may be associated with this type of growth pattern. Congenital hypertrichosis is believed to be a genetic disorder that is inherited or occurs as a result of spontaneous mutation. The incidence of generalised congenital hypertrichosis is about one in a billion. A seven-month-old female case was brought to the hospital with growth and hairiness complaints, which were more apparent in the right side of the face, the right arm and the right leg. Physical examination showed more apparent hypertrophy and hypertrichosis, which covered the entire right side of the body beginning from the face and including the lower extremities and the genitalia. Hypertrichosis was more evident above the right scapula and on the right leg. The diameter of the right upper extremity and the right lower extremity were measured at 13 mm and 14 mm thicker than the left side, respectively. The infant did not have teeth yet and had totally normal nail growth. Skeletal structure, cardiovascular, respiratory, urogenital, central nervous system and eye examinations were all normal. Results of all laboratory analyses, including genetic examination, and those of the imaging techniques were found to be normal. We hereby present the rare co-presence of hemihypertrophy and hemihypertrichosis, for which we could not identify an etiological cause and which is the third such case in the literature.

  17. A young child with bilateral diaphragmatic palsy after bilateral bidirectional Glenn shunt.

    Science.gov (United States)

    Shamsuddin, A K; Biswas, S K; Rahman, M Z; Biswas, S; Hasan, N A; Sharifuzzaman, M

    2014-07-01

    A 13-months old boy was admitted in National Heart Foundation Hospital and Research Institute on 3 August 2011 with the diagnosis of Dextrocardia, A-V discordance, DORV, large perimembranous VSD, severe infundibular and valvular PS, bilateral SVC. He was operated on 10 August 2011. Bilateral bidirectional Glenn shunt was done off pump along with interruption of PDA. Antegrade pulmonary blood flow was minimized by tight PA banding. Baby was extubated 3 hours after surgery but had to reintubate immediately due to intense respiratory distress. Subsequent three trials of extubation failed. Chest x-ray revealed elevation of both the hemidiaphragm. Ultrasonogram of abdomen and Bronchogram along with fluoroscopy done and bilateral diaphragmatic palsy was diagnosed. Tracheostomy was done on 25th August 2011. Plication of left hemidiaphragm was done on 27th August and right hemidiaphragm plication was done on 10th September 2011. Though it took long period of time we managed to take him out of ventilator on 57th postoperative day. He was oxygen dependent for a period of time and finally he managed to take his own breath without tracheostomy tube from 67th postoperative day. After a long eventful postoperative hospital stay he was discharged home on 78th postoperative day. Discharge Chest x-ray revealed well expanded lung with flattened diaphragm. Echo revealed well functioning bilateral Glenn shunt. Tracheostomy wound healed nicely and there was no evidence of tracheal stenosis.

  18. Comparison of prone and supine positions in myocardial perfusion SPECT on diaphragmatic attenuation

    International Nuclear Information System (INIS)

    Modarres Mosalla, M.M.

    2002-01-01

    Tissue attenuation effect, especially breast and diaphragm can produce artifactual defects in the myocardial perfusion SPECT. Several ways are suggested to minimize such an effect. The aim of this study is evaluation of the effect of supine and prone position on the anterior and inferior left ventricular walls during myocardial perfusion SPECT. 48 patients, 30 men and 18 women, with age of 42-73 years without typical chest pain, <15% probability of coronary artery disease, significant abdominal fat pad, and hypo activity of the inferior wall in supine position were selected. SPECT was repeated in the prone position. 22(73%) male patients and 8(44%) of female patients showed more activity of the anterior wall in the prone position (p<0.01). The anterior wall became hypoactive in 7(23%) of male patients (p<0.01) in the prone position. The anterior wall showed lesser activity in the supine position in 6(33%) of female patients (p<0.01). Although breast attenuation is more common in female, diaphragmatic attenuation can also be troublesome. In these selected women prone position minimized both effects. Prone position in the male patients decreases the attenuation effect of diaphragm significantly but may cause false defect in the anterior wall. Myocardial perfusion SPECT is preferred to be performed in prone position in both sexes, however possibility of anterior wall false defect should be considered

  19. Idiopathic diaphragmatic paralysis: Bell's palsy of the diaphragm?

    Science.gov (United States)

    Crausman, Robert S; Summerhill, Eleanor M; McCool, F Dennis

    2009-01-01

    Idiopathic diaphragm paralysis is probably more common and responsible for more morbidity than generally appreciated. Bell's palsy, or idiopathic paralysis of the seventh cranial nerve, may be seen as an analogous condition. The roles of zoster sine herpete and herpes simplex have increasingly been recognized in Bell's palsy, and there are some data to suggest that antiviral therapy is a useful adjunct to steroid therapy. Thus, we postulated that antiviral therapy might have a positive impact on the course of acute idiopathic diaphragm paralysis which is likely related to viral infection. Three consecutive patients with subacute onset of symptomatic idiopathic hemidiaphragm paralysis were empirically treated with valacyclovir, 1,000 mg twice daily for 1 week. Prior to therapy, diaphragmatic function was assessed via pulmonary function testing and two-dimensional B-mode ultrasound, with testing repeated 1 month later. Diaphragmatic function pre- and post-treatment was compared to that of a historical control group of 16 untreated patients. All three subjects demonstrated ultrasound recovery of diaphragm function 4-6 weeks following treatment with valacyclovir. This recovery was accompanied by improvements in maximum inspiratory pressure (PI(max)) and vital capacity (VC). In contrast, in the untreated cohort, diaphragm recovery occurred in only 11 subjects, taking an average of 14.9 +/- 6.1 months (mean +/- SD). The results of this small, preliminary study suggest that antiviral therapy with valacyclovir may be helpful in the treatment of idiopathic diaphragm paralysis induced by a viral infection.

  20. EVALUATION OF THORACOSCOPY IN THE DIAGNOSIS OF DIAPHRAGMATIC INJURIES IN PENETRATING THORACOABDOMINAL TRAUMA WITHOUT LUNG DEFLATION AT DR GEORGE MUKHARI ACADEMIC HOSPITAL.

    Science.gov (United States)

    Nsakala, L

    2017-06-01

    With a mortality estimated at 25% when missed, diaphragmatic injuries due to penetrating thoracoabdominal trauma present a diagnostic challenge for both the radiologist and the surgeon. In the current literature, chest x-ray has a sensitivity of 27-60% for left-sided injuries and only 17% for right-sided injuries while, CT scan has a sensitivity of 14-61% and a specificity of 76-99%. Thoracoscopy using a single lung ventilation is one of the modalities of choice for the diagnosis of these injuries with a specificity of 100% and a sensitivity of 87.5%. This was a prospective study; all stable trauma patients with penetrating thoracoabdominal injury aged 18 years and above admitted to the trauma unit at Dr George Mukhari Academic Hospital during the period of the study were included. All patients with penetrating thoracoabdominal trauma who were unstable, or necessitating prompt management and all paediatric patients were excluded from the study. In theatre, under general anaesthesia, we first performed thoracoscopy without single lung ventilation followed by laparoscopy as control on each patient. Data was collected using a standard proforma by the attending surgeon and was analysed by a statistician using IBM SPSS 22 software. A total of 32 patients met the inclusion criteria of which 4 were female (12.5%) and 28 male (87.5%) with the median age of 29 years. Of the 32 patients, 27 had thoracoabdominal stab wounds (84.3%) and 5 had gunshot wounds (15.6%). Fourteen patients (43.75%) had left sided injury and 18 patients (56.25%) had injury to the right side. The incidence of diaphragmatic injury was 37.5% (n = 12). No injuries were missed on thoracoscopy; there was no mortality or morbidity. Thoracoscopy without single lung ventilation is safe and comparable to thoracoscopy with single lung ventilation as a diagnostic tool for diaphragmatic injuries in stable patients with penetrating thoracoabdominal trauma.

  1. Congenital amusia.

    Science.gov (United States)

    Williamson, Victoria J; Stewart, Lauren

    2013-01-01

    For most people, music, like language, is acquired effortlessly in early life. But a few percent of the population have lifelong difficulties in the perception and production of music. In this chapter we discuss psycho-acoustic and behavioral studies that have attempted to delineate the nature of the auditory perceptual deficits in this group and consider whether these difficulties extend outside the musical domain. Finally, we review structural imaging studies in this group which point to subtle anomalies in temporal and frontal areas. We suggest that amusia can be considered a disorder of neural development, which has relatively specific consequences at the behavioral level. Studies of congenital amusia provide a unique window on the neurocognitive architecture of music processing. Copyright © 2013 Elsevier B.V. All rights reserved.

  2. Congenital hypothyroidism

    Directory of Open Access Journals (Sweden)

    Pankaj Agrawal

    2015-01-01

    Full Text Available Congenital hypothyroidism (CH is the one of the most common preventable cause of mental retardation. In the majority of patients, CH is caused by an abnormal development of the thyroid gland (thyroid dysgenesis that is a sporadic disorder and accounts for 85% of cases and the remaining 15% of cases are caused by dyshormonogenesis. The clinical features of congenital hypothyroidism are so subtle that many newborn infants remain undiagnosed at birth and delayed diagnosis leads to the most severe outcome of CH, mental retardation, emphasizing the importance of neonatal screening. Dried capillary blood is used for screening and it is taken from heel prick optimally between 2 and 5 days of age. Blood spot TSH or thyroxine (T4 or both are being used for CH screening in different programs around the world. Neonates with abnormal thyroid screening tests should be recalled immediately for examination and a venipuncture blood sample should be drawn for confirmatory serum testing. Confirmatory serum should be tested for TSH and free T4, or total T4. Serum TSH and T4 undergo dynamic changes in the first weeks of life; it is important to compare serum results with age-normal reference ranges. Treatment should be started promptly and infant should be rendered euthyroid as early as possible, as there is an inverse relationship between intelligence quotient (IQ and the age at diagnosis. Levothyroxine (l-thyroxine is the treatment of choice and American academy of pediatrics and European society of pediatric endocrinology recommend 10-15μgm/kg/day as initial dose. The immediate goal of therapy is to normalize T4 within 2 weeks and TSH within one month. The overall goal of treatment is to ensure growth and neurodevelopmental outcomes as close as possible to their genetic potential.

  3. Bicornuate unicollis uterus with left renal agenesis | Adeyinka ...

    African Journals Online (AJOL)

    ... demonstrated a Left Renal agenesis inclusive. Radiological features, clinical presentation and literature on this rare congenital abnormality have also been reviewed in this paper. Keywords: infertility, bicornuate unicolis, ultrasound, hysterosalpingography, renal agenesis. Tropical Journal of Obstetrics and Gynaecology ...

  4. Hypoplastic left heart syndrome

    Directory of Open Access Journals (Sweden)

    Thiagarajan Ravi

    2007-05-01

    Full Text Available Abstract Hypoplastic left heart syndrome(HLHS refers to the abnormal development of the left-sided cardiac structures, resulting in obstruction to blood flow from the left ventricular outflow tract. In addition, the syndrome includes underdevelopment of the left ventricle, aorta, and aortic arch, as well as mitral atresia or stenosis. HLHS has been reported to occur in approximately 0.016 to 0.036% of all live births. Newborn infants with the condition generally are born at full term and initially appear healthy. As the arterial duct closes, the systemic perfusion becomes decreased, resulting in hypoxemia, acidosis, and shock. Usually, no heart murmur, or a non-specific heart murmur, may be detected. The second heart sound is loud and single because of aortic atresia. Often the liver is enlarged secondary to congestive heart failure. The embryologic cause of the disease, as in the case of most congenital cardiac defects, is not fully known. The most useful diagnostic modality is the echocardiogram. The syndrome can be diagnosed by fetal echocardiography between 18 and 22 weeks of gestation. Differential diagnosis includes other left-sided obstructive lesions where the systemic circulation is dependent on ductal flow (critical aortic stenosis, coarctation of the aorta, interrupted aortic arch. Children with the syndrome require surgery as neonates, as they have duct-dependent systemic circulation. Currently, there are two major modalities, primary cardiac transplantation or a series of staged functionally univentricular palliations. The treatment chosen is dependent on the preference of the institution, its experience, and also preference. Although survival following initial surgical intervention has improved significantly over the last 20 years, significant mortality and morbidity are present for both surgical strategies. As a result pediatric cardiologists continue to be challenged by discussions with families regarding initial decision

  5. Congenitally missing mandibular second premolars: clinical options.

    Science.gov (United States)

    Kokich, Vincent G; Kokich, Vincent O

    2006-10-01

    Congenital absence of mandibular second premolars affects many orthodontic patients. The orthodontist must make the proper decision at the appropriate time regarding management of the edentulous space. These spaces can be closed or left open. If the space will be left open for an eventual restoration, the keys during orthodontic treatment are to create the correct amount of space and to leave the alveolar ridge in an ideal condition for a future restoration. If the space will be closed, the clinician must avoid any detrimental alterations to the occlusion and the facial profile. Some early decisions that the orthodontist makes for a patient whose mandibular second premolars are congenitally missing will affect his or her dental health for a lifetime. Therefore, the correct decision must be made at the appropriate time. In this article, we present and discuss various treatment alternatives for managing orthodontic patients with at least 1 congenitally missing mandibular second premolar.

  6. Prenatal tracheal ligation or intra-amniotic administration of surfactant or dexamethasone prevents some structural changes in the pulmonary arteries of surgically created diaphragmatic hernia in rabbits Ligadura de traquéia no período pré-natal ou administração intra-amniótica de surfactante ou dexametasona evitam algumas alterações estruturais nas artérias pulmonares de fetos de coelho com hérnia diafragmática congênita produzida com cirurgia

    Directory of Open Access Journals (Sweden)

    Consuelo J. Rodrigues

    2002-02-01

    Full Text Available PURPOSE: Characterization of the structural changes occurring in the pulmonary arteries resulting from surgically produced congenital diaphragmatic hernia in rabbits, with particular emphasis on the preventive effects of prenatal tracheal ligation or administration of intra-amniotic dexamethasone or surfactant. METHODS: Twenty rabbit fetuses underwent surgical creation of a left-sided congenital diaphragmatic hernia on the 24th or 25th gestational day. They were divided according to the following procedures: congenital diaphragmatic hernia (n = 5, congenital diaphragmatic hernia plus tracheal ligation (n = 5, congenital diaphragmatic hernia plus intra-amniotic administration of dexamethasone 0.4 mg (n = 5 or surfactant (Curosurf 40 mg, n = 5. On gestational day 30, all the fetuses were delivered by caesarean section and killed. A control group consisted of five nonoperated fetuses. Histomorphometric analysis of medial thickness, cell nuclei density, and elastic fiber density of pulmonary arterial walls was performed. RESULTS: Arteries with an external diameter > 100 mum have a decreased medial thickness, lower cell nuclei density, and greater elastic fiber density when compared with arteries with external diameter 100 mum. Prenatal treatments with tracheal ligation or intra-amniotic administration of dexamethasone or surfactant prevented these changes. In arteries with external diameter OBJETIVO: Caracterização das alterações estruturais que ocorrem nas artérias pulmonares de fetos de coelho com hérnia diafragmática congênita produzida com cirurgia, com destaque especial aos efeitos preventivos da ligadura de traquéia ou administração intra-amniótica de dexametasona ou surfactante. MÉTODOS: Vinte fetos de coelho foram submetidos a cirurgia para produção de hérnia diafragmática no 24º ou 25º dia de gestação. Os animais foram divididos de acordo com os procedimentos: hérnia diafragmática congênita (n = 5, hérnia diafragm

  7. Diaphragmatic hernia repair using a rectus abdominis muscle pedicle flap in three dogs.

    Science.gov (United States)

    Chantawong, P; Komin, K; Banlunara, W; Kalpravidh, M

    2013-01-01

    To report the clinical use of a pedicle flap from the rectus abdominis muscle to repair extensive diaphragmatic tears in dogs with diaphragmatic hernia. Three dogs with a combination of radial and circumferential diaphragmatic tears were studied. The circumferential tear was repaired by suturing the wound edge with the edge at the abdominal wall. A pedicle flap of the rectus abdominis muscle was used for repairing the radial tear. The dogs were examined radiographically for lung and diaphragm appearance and evidence of reherniation at 10 days, and at one, two, and four months after surgery, and fluoroscopically for paradoxical motion of the diaphragm at one and four months. The rectus abdominis muscle pedicle flap was successfully used in all three dogs. The animals recovered uneventfully without evidence of reherniation during the four follow-up months. Fluoroscopic examination revealed no paradoxical motion of the diaphragm. A rectus abdominis muscle pedicle flap can be used for repairing large diaphragmatic defects in dogs.

  8. Successful Treatment of Tardive Diaphragmatic Flutter in an Elderly Man with Aripiprazole

    Directory of Open Access Journals (Sweden)

    Yi-Hsiang Chen

    2013-06-01

    Full Text Available Tardive dyskinesia (TD is a severe adverse effect induced by prolonged treatment with antipsychotics. The development of TD is usually associated with advanced age, female sex, prior extrapyramidal adverse effects, and a longer duration or an intermittent course of antipsychotic treatment. Older age, however, is the most robust risk factor for TD. Tardive diaphragmatic flutter is an uncommon form of TD and may lead to great distress in the patient's life. No effective treatment advice for tardive diaphragmatic flutter has been suggested. We herein report the case of a 65-year-old male with bipolar disorder who suffered from tardive diaphragmatic flutter associated with the long-term usage of risperidone. The diaphragmatic flutter remitted for 2 years under the monotherapy with aripiprazole. Potential mechanisms, such as the dopamine stabilization in aripiprazole, are discussed.

  9. An unusual cause of orthopnoea-hashimoto's thyroiditis presenting as bilateral diaphragmatic palsy

    Directory of Open Access Journals (Sweden)

    N.K. Thulaseedharan, MBBS, MD(General Medicine

    2017-01-01

    Full Text Available We report a case of 36 yr old male without any comorbidities, who presented with a history of gradually progressive dyspnoea and orthopnoea for 6 months. Physical examination revealed bradycardia, paradoxical respiration suggestive of bilateral diaphragmatic palsy. Fluoroscopy demonstrated the presence of bilateral diaphragmatic paralysis. Etiological work up showed evidence of autoimmune hypothyroidism due to hashimoto's thyroiditis. Other possibilities were ruled out with appropriate tests. He was started on thyroxine and showed symptomatic improvement.

  10. [Magnetic resonance imaging in the diagnosis of retrosternal anterior diaphragmatic hernia in an adult man].

    Science.gov (United States)

    Dancewicz, Maciej; Kowalewski, Janusz; Kusiak, Iwona; Pepliński, Janusz; Szabo-Moskal, Jadwiga

    2006-01-01

    The study presents a case report of a retrosternal anterior diaphragmatic hernia in a 46-year-old man presented with abdominal pain, nausea, dyspnoea and treated previously as for chronic pancreatitis. A strong suspicion of the diaphragmatic hernia was generated after chest radiograph. However, the exact diagnosis of the Morgagni hernia was established by magnetic resonance imaging. The hernia was repaired through thoracic incision. The postoperative course proved uneventful: the patient was discharged from the hospital 10 days after surgical intervention.

  11. Congenital Progressive Mutilating Hemangioma

    Directory of Open Access Journals (Sweden)

    Anastasiya Chokoeva

    2017-06-01

    Full Text Available A 73-year-old male patient was admitted with symptoms of decompensated cardiac and pulmonary insufficiency with long-lasting history. A tumor-like formation was observed within the clinical examination, covering the whole skin of the nose, paranasal region of the left part of the face, as well as the upper and lower left eyelids. The lesion was with yellow to brownish surface and dark-reddish to violet discolored peripheral area, composed of nodular formations, smooth central surface and firm texture on palpation. The histopathological examination verified the diagnosis of hemangioma, which had been congenital, regarding the patient’s history, treated surgically about 50 years ago, with signs of recurrence. The presented patient had been treated surgically at the age of 20, without medical evidence of the type of the performed excision. The recurrence occurs almost 50 years later, at the age of 78. To the best of our knowledge, this is the first reported recurrence of infantile hemangioma, treated surgically almost 50 years ago.

  12. US patterns of the diaphragmatic crura. Normal anatomy and its variants; Aspetti ecografici dei pilastri diaframmatici. Anatomia normale e sue varianti

    Energy Technology Data Exchange (ETDEWEB)

    Crespi, G.; Martinoli, C.; Cicio, G.R. [Genua Univ., Genua (Italy). Cattedra R di Radiologia DICMI; Zappasodi, F. [Sobborgo Valzania, Cesena, FO (Italy); Valle, M. [Istituto Gaslini, Genua (Italy). Servizio di Radiologia

    2000-06-01

    Purpose of this work is to report the various US patterns of the diaphragmatic crura and the changes occurring during the different phases of respirations. The diaphragm has two US patterns: the central membranous part appears highly reflective while the posterior, upper and lateral muscular portions are hypoechoic and thick. The crura can sometimes appear quite bulky, which appearance is easy to misinterpret. It was carried out a three-stage work: first it was reviewed the US examinations of 23 subjects with a nodular appearance of the posteromedial bundles and studied the changes in thickness during respiration. Second it was studied the diaphragmatic crura in 30 subjects aged 18-71 years, 15 men and 15 women. It was used a commercially available unit with sector and convex 3.5 MHz probes at baseline and during breath hold and acquired multiple parasaggittal and transverse scans. The crura thickness was measured in all patients. Last, it was studied the diaphragmatic regions of 10 patients with right pleural effusion and of 8 patients with associated ascites and pleural effusion using 2.0-5.0 MHz convex phased-array transducers. It was found that focal thickening of the crura in 11 of 23 patients with US findings of diaphragmatic nodules, but only in deep inspiration. The thickening was 1.5-2.2 cm long and maximum thickness was 10 mm. In the other 12 subjects it was found 9 small lobules in the right and 3 in the left crus. In the anatomic study, it was observed a 3-band appearance of the diaphragmatic crura, probably referable to muscle bundles, in 30 subjects on sagittal images, in 12 on coronal images and in 28 on anterior transverse images. The diaphragmatic crura were identified in 26 subjects only. The left posterior crus was identified in 29 subjects on left coronal images and in 15 on anterior transverse images; it was demonstrated on anterior sagittal images in close proximity to the aorta in only 4 subjects. Right crus thickness, measured on sagittal

  13. [Congenital hypothyroidism].

    Science.gov (United States)

    Castilla Peón, María Fernanda

    Congenital hypothyroidism (CH) is a cause of preventable mental retardation; therefore, timely diagnosis and treatment by the primary care physician is very important. CH screening must be performed between the second and fifth days of life with capillary blood done with a heel prick and must be confirmed by measurement of thyroid hormones in venous blood. The most common cause of CH is thyroid dysgenesis, which may be identified by a thyroid scan carried out before initiating treatment. Treatment should be with levothyroxine (10-15μg/kg/day) and should not be delayed or suspended during the first 3 years of life due to the deleterious effect on neurodevelopment in case of low thyroid hormones during this time. Preterm or sick infants or those with Down syndrome require special consideration. This article provides diagnostic and therapeutic algorithms for CH. Copyright © 2015 Hospital Infantil de México Federico Gómez. Publicado por Masson Doyma México S.A. All rights reserved.

  14. Congenital heart disease

    Science.gov (United States)

    ... this page: //medlineplus.gov/ency/article/001114.htm Congenital heart disease To use the sharing features on this page, please enable JavaScript. Congenital heart disease (CHD) is a problem with the heart's structure ...

  15. [Course of congenital malformation incidences and their changes over time in children born in the Czech Republic].

    Science.gov (United States)

    Sípek, A; Gregor, V; Horáček, J; Sípek, A; Langhammer, P

    2012-10-01

    An analysis of incidences of selected birth defects in the Czech Republic in 2000 - 2008 period. Retrospective epidemiological analysis of birth defects incidences in births and total birth defects incidences (including prenatally diagnosed cases) from the Czech National Birth Defects Register database. Data from the National Birth Defects Register (Institute for Health Information and Statistics) in the Czech Republic in the 2000 - 2008 period were used along with data on prenatally diagnosed defects from particular departments of medical genetics. Sixteen selected defects (anencephaly, spina bifida, encephalocele, congenital hydrocephalus, coarctation of aorta, transposition of great vessels, hypoplastic left heart syndrome, Fallot tetralogy, omphalocele, gastroschisis, diaphragmatic hernia, oesophageal atresia and stenosis, anorectal malformations, Down syndrome, Edwards syndrome and Patau syndrome) were analyzed in detail. There were 119 570 live births (61 326 boys and 58 244 girls) in 2008. In the same period, 4664 live births with a birth defect (under the age of one year) were reported, out of which 2754 boys and 1910 girls. Mean incidence was 390.06 (449.08 in boys and 327.93 in girls) per 10 000 live births. In 1994 - 2006, totally 1 238 398 children were born, out of which more than 42 000 with a birth defect. In the 2000 - 2006 period, absolute numbers of diagnosed live births with birth defect varied between 3600 - 3800 cases per year while in 2007 and 2008 years absolute numbers raised over 4600 cases per year. During 2000 - 2008 period following mean incidences (per 10 000 live births) of selected defects were ascertained (total incidences including prenatal diagnostics in brackets): anencephaly 0 - 0.3 (1.9 - 3.7), spina bifida 0.7 - 2.3 (3.2 - 5.2), encephalocele 0.1 - 0.4 (0.9 - 2.4), congenital hydrocephalus 1.6 - 3.5 (5.3 - 7.0), coarctation of aorta 3.9 - 5.2 (4.8 - 6.1), transposition of great vessels 2.9 - 4.5 (3.2 - 5.0), hypoplastic left

  16. Gestational and congenital syphilis.

    Science.gov (United States)

    Wendel, G D

    1988-06-01

    The frequency of congenital syphilis continues to increase throughout the United States during the 1980s. Untreated maternal infection can lead to stillbirth, premature labor, congenital infection, and neonatal death. Preventive measures, based on control of early syphilis in women, prenatal care, improved diagnosis and diligent followup, can help to decrease the incidence of congenital syphilis. The clinical presentation and recommended regimens for therapy of the gravida with syphilis and neonates with suspected congenital syphilis are reviewed.

  17. A virilized patient with congenital hemihypertrophy.

    Science.gov (United States)

    Mark, S; Clark, O H; Kaplan, R A

    1994-10-01

    An 18 year old woman with congenital hemihypertrophy of her left side, presented with the rapid onset of virilism, hypertension and a cushingoid appearance. A computed tomographic examination revealed adrenal and hepatic masses. Adrenocortical carcinoma was confirmed by surgical pathology. Hemihypertrophy is linked to a variety of benign and malignant disorders that usually appear during childhood. These disorders include adrenocortical carcinoma and hepatoblastoma. We bring this case to clinical attention to increase awareness that adult patients with congenital hemihypertrophy are still at a significant risk of developing neoplasms.

  18. A selective beta2-adrenergic agonist, terbutaline, improves sepsis-induced diaphragmatic dysfunction in the rat.

    Science.gov (United States)

    Ito, Tetsuo; Fujimura, Naoyuki; Omote, Keiichi; Namiki, Akiyoshi

    2006-07-24

    Sepsis causes diaphragmatic dysfunction, which can lead to the development of respiratory failure. We previously reported that isoproterenol, non-selective beta-adrenergic agonist, improved contractility of the diaphragm in a septic rat model. Since beta(2)-adrenoceptor agonists are widely used in the treatment of chronic respiratory disease, we investigated the effect of terbutaline, a selective beta(2)-adrenergic agonist, on contractility of the septic rat diaphragm and the contribution of intracellular Ca(2+) to the effect of terbutaline in vitro. Forty-eight rats were divided into a sham group (in which sham laparotomy was performed) and a CLP group (in which peritonitis was induced by cecal ligation and perforation). The left hemidiaphragm was removed at 16 h after the operation. The effect of terbutaline (10(-)(6) M) on contractility of the diaphragm was assessed by twitch characteristics (twitch tension, contraction time and contraction velocity) and force-frequency relationship. In addition, to investigate the role of calcium ions in the effect of terbutaline on contractility of the diaphragm, contractility of the diaphragm was assessed after the pre-incubation of the diaphragm with methoxy-verapamil (10(-)(5) M), Ca(2+)-free Krebs-Ringer's solution buffered with 2 mM of ethylene glycol tetra-acetic acid (EGTA), and ryanodine (10(-)(6) M). Terbutaline significantly improved twitch characteristics and force-frequency relationship of the diaphragm in the CLP group (P<0.01). Incubation with methoxy-verapamil or calcium-free solution with EGTA did not show any changes in the inotropic effect of terbutaline in the CLP group. However, incubation with ryanodine completely abolished the inotropic effect of terbutaline in the CLP group. The present study demonstrated that terbutaline increased contractility of the diaphragm in the septic rats. Since this inotropic effect was abolished by ryanodine administration, calcium release from the sarcoplasmic reticulum may

  19. Cerebral glucose metabolic abnormality in patients with congenital scoliosis

    International Nuclear Information System (INIS)

    Nam, H. Y.; Seo, G. T.; Lee, J. S.; Kim, S. C.; Kim, I. J.; Kim, Y. K.; Jeon, S. M.

    2007-01-01

    A possible association between congenital scoliosis and low mental status has been recognized, but there are no reports describing the mental status or cerebral metabolism in patients with congenital scoliosis in detail. We investigated the mental status using a mini-mental status exam as well as the cerebral glucose metabolism using F-18 fluorodeoxyglucose brain positron emission tomography in 12 patients with congenital scoliosis and compared them with those of 14 age-matched patients with adolescent idiopathic scoliosis. The mean mini-mental status exam score in the congenital scoliosis group was significantly lower than that in the adolescent idiopathic scoliosis group. Group analysis found that various brain areas of patients with congenital scoliosis showed glucose hypometabolisms in the left prefrontal cortex (Brodmann area 10), right orbitofrontal cortex (Brodmann area 11), left dorsolateral prefrontal cortex (Brodmann area 9), left anterior cingulate gyrus (Brodmann area 24) and pulvinar of the left thalamus. From this study, we could find the metabolic abnormalities of brain in patients with congenital scoliosis and suggest the possible role of voxel-based analysis of brain fluorodeoxyglucose positron emission tomography

  20. Cerebral glucose metabolic abnormality in patients with congenital scoliosis

    Energy Technology Data Exchange (ETDEWEB)

    Nam, H. Y.; Seo, G. T.; Lee, J. S.; Kim, S. C.; Kim, I. J.; Kim, Y. K.; Jeon, S. M. [Pusan National University Hospital, Pusan (Korea, Republic of)

    2007-07-01

    A possible association between congenital scoliosis and low mental status has been recognized, but there are no reports describing the mental status or cerebral metabolism in patients with congenital scoliosis in detail. We investigated the mental status using a mini-mental status exam as well as the cerebral glucose metabolism using F-18 fluorodeoxyglucose brain positron emission tomography in 12 patients with congenital scoliosis and compared them with those of 14 age-matched patients with adolescent idiopathic scoliosis. The mean mini-mental status exam score in the congenital scoliosis group was significantly lower than that in the adolescent idiopathic scoliosis group. Group analysis found that various brain areas of patients with congenital scoliosis showed glucose hypometabolisms in the left prefrontal cortex (Brodmann area 10), right orbitofrontal cortex (Brodmann area 11), left dorsolateral prefrontal cortex (Brodmann area 9), left anterior cingulate gyrus (Brodmann area 24) and pulvinar of the left thalamus. From this study, we could find the metabolic abnormalities of brain in patients with congenital scoliosis and suggest the possible role of voxel-based analysis of brain fluorodeoxyglucose positron emission tomography.

  1. Nuclear Imaging to Detect Diaphragmatic Perforation as a Rare Complication of Microwave Ablation

    Directory of Open Access Journals (Sweden)

    Stephanie Cull

    2017-01-01

    Full Text Available Acquired diaphragmatic perforation leading to massive hepatic hydrothorax and respiratory failure is a rare complication of microwave ablation (MWA of hepatocellular carcinoma (HCC. Imaging modalities to detect pleuroperitoneal communication remain poorly described. We report a nuclear imaging technique used to efficiently diagnose and locate diaphragmatic defects. A 57-year-old male with cirrhosis and HCC presented with respiratory distress after undergoing MWA of a HCC lesion. He was admitted to the intensive care unit for noninvasive positive pressure ventilator support. Chest radiography revealed a new large right pleural effusion. Large-volume thoracentesis was consistent with hepatic hydrothorax. The fluid reaccumulated within 24 hours; therefore an acquired diaphragmatic perforation induced by the ablation procedure was suspected. To investigate,  99mTechnetium-labeled albumin was injected into the peritoneal cavity. The tracer accumulated in the right hemi thorax almost immediately. The patient then underwent transjugular intrahepatic portosystemic shunting in efforts to relieve portal hypertension and decrease ascites volume. Unfortunately, the patient deteriorated and expired after few days. Although diaphragmatic defects develop in cirrhotic patients, such small fenestrations do not normally lead to rapid development of life-threatening pleural effusion. MWA procedures can cause large diaphragmatic defects. Immediate detection of this complication is essential for initiating early intervention.

  2. Cyanotic congenital heart disease

    Energy Technology Data Exchange (ETDEWEB)

    Yeon, Kyung Mo; Yoo, Shi Joon; Han, Man Chung; Hong, Chang Yee; Lee, Yung Kyoon [Seoul National University College of Medicine, Seoul (Korea, Republic of)

    1979-12-15

    Authors analyzed 265 cases of cyanotic congenital heart disease in which cardiac catheterization and angiocardiography were done at the Department of Radiology, Seoul National University Hospital between April 1973 and August 1979. The results are as follows; 1. Among 265 cases, 178 patients were male and 87 patients were female. 240 patients were below the age of 20 and none was over 35 year. 2. The incidence of individual lesions are as follows: tetralogy of Fallot-176; double outlet right ventricle-20; pentalogy-12; trilogy-11; corrected transposition of great arteries-10; complete transposition of great arteries-8; pulmonary atresia-7; single ventricle-6; Ebstein's anomaly-5; total anomalous pulmonary venous return-4; tricuspid atresia-3; double outlet left ventricle-1; truncus arteriosus-1; hypoplastic left ventricle-1. 3. Fallot's teralogy, pentalogy and trilogy were characteristic in their simple chest and angiocardiographic manifestations, but in a few cases of tetralogy and pentalogy it was difficult to differentiate them from double outlet right ventricle or pulmonary atresia. 4. In double outlet right ventricle and transposition of great arteries which are the pathologic spectrum resulting from abnormal conal growth, differential points were ventricular and great arterial loop patterns and their connections but it was very difficult to differentiate them from each other by single injection into one ventricle alone. 5. Ebstein's anomaly and total anomalous pulmonary venous return were so characteristic in angiocardiography was done ventriculography alone. 6. In 7 cases with double outlet right ventricle and transposition of great arteries, selective biventriculography was done and more accurate diagnosis could be made, which was quite difficult with one ventriculography alone. In 31 cases, cineangiocardiography was done and it gave more accurate information about the type and degree of pulmonary stenosis and overriding of aorta, the origin

  3. Cyanotic congenital heart disease

    International Nuclear Information System (INIS)

    Yeon, Kyung Mo; Yoo, Shi Joon; Han, Man Chung; Hong, Chang Yee; Lee, Yung Kyoon

    1979-01-01

    Authors analyzed 265 cases of cyanotic congenital heart disease in which cardiac catheterization and angiocardiography were done at the Department of Radiology, Seoul National University Hospital between April 1973 and August 1979. The results are as follows; 1. Among 265 cases, 178 patients were male and 87 patients were female. 240 patients were below the age of 20 and none was over 35 year. 2. The incidence of individual lesions are as follows: tetralogy of Fallot-176; double outlet right ventricle-20; pentalogy-12; trilogy-11; corrected transposition of great arteries-10; complete transposition of great arteries-8; pulmonary atresia-7; single ventricle-6; Ebstein's anomaly-5; total anomalous pulmonary venous return-4; tricuspid atresia-3; double outlet left ventricle-1; truncus arteriosus-1; hypoplastic left ventricle-1. 3. Fallot's teralogy, pentalogy and trilogy were characteristic in their simple chest and angiocardiographic manifestations, but in a few cases of tetralogy and pentalogy it was difficult to differentiate them from double outlet right ventricle or pulmonary atresia. 4. In double outlet right ventricle and transposition of great arteries which are the pathologic spectrum resulting from abnormal conal growth, differential points were ventricular and great arterial loop patterns and their connections but it was very difficult to differentiate them from each other by single injection into one ventricle alone. 5. Ebstein's anomaly and total anomalous pulmonary venous return were so characteristic in angiocardiography was done ventriculography alone. 6. In 7 cases with double outlet right ventricle and transposition of great arteries, selective biventriculography was done and more accurate diagnosis could be made, which was quite difficult with one ventriculography alone. In 31 cases, cineangiocardiography was done and it gave more accurate information about the type and degree of pulmonary stenosis and overriding of aorta, the origin of great

  4. Adrenomyeloneuropathy associated with congenital cataract

    International Nuclear Information System (INIS)

    Komori, Tetsuo; Nagashima, Toshiko; Hirose, Kazuhiko; Tanabe, Hitoshi; Tsubaki, Tadao

    1988-01-01

    Two cases of adrenomyeloneuropathy (AMN) in a family and the results of their MRI study are reported. Case 1, a 24-year-old male proband, was admitted to our hospital because of gait disturbance for three years. Bilateral cataracts were pointed out at birth, which required left side lenticotomy at age four. Neurological examinations on admission revealed a marked spastic paraparesis with pathological reflexes and a mild hypesthesia in the distal part of the left leg. No abnormal findings were detected in X-ray studies on the spine and spinal cord, electromyography and nerve conduction test. Serum very long chain fatty acids (VLCFAs) levels were apparently elevated, and the serum cortisol response to ACTH was low. Case 2, a 53-year-old woman, is the mother of Case 1 having a complaint of gait disturbance since age 51. She presented a mild spastic paraparesis with localized hypesthesia in the distal part of the both legs. She also had bilateral congenital cataracts. Her serum VLCFAs analysis indicated the intermediate levels between that of AMN and the normal control. Adrenal functions were normal. Cranial MRI (TR 2,000 msec/TE 80 msec) study disclosed high signal intensity areas in bilateral internal capsules in Case 1. These findings, suggesting the pathological change of dysmyelination, seemed to be well compatible with the clinical pictures. With these clinical findings and the laboratory data, these two cases were diagnosed as AMN. In addition, association of congenital cataract with AMN in both cases was characteristic in this family, which hasn't been reported in the literature. On regarding the genetic background of these two disorders, AMN and congenital cataract, it was speculated that each gene could be closely located on the same or very adjacent locus, possibly on Xq. (author)

  5. Associated congenital anomalies among cases with Down syndrome.

    Science.gov (United States)

    Stoll, Claude; Dott, Beatrice; Alembik, Yves; Roth, Marie-Paule

    2015-12-01

    Down syndrome (DS) is the most common congenital anomaly widely studied for at least 150 years. However, the type and the frequency of congenital anomalies associated with DS are still controversial. Despite prenatal diagnosis and elective termination of pregnancy for fetal anomalies, in Europe, from 2008 to 2012 the live birth prevalence of DS per 10,000 was 10. 2. The objectives of this study were to examine the major congenital anomalies occurring in infants and fetuses with Down syndrome. The material for this study came from 402,532 consecutive pregnancies of known outcome registered by our registry of congenital anomalies between 1979 and 2008. Four hundred sixty seven (64%) out of the 728 cases with DS registered had at least one major associated congenital anomaly. The most common associated anomalies were cardiac anomalies, 323 cases (44%), followed by digestive system anomalies, 42 cases (6%), musculoskeletal system anomalies, 35 cases (5%), urinary system anomalies, 28 cases (4%), respiratory system anomalies, 13 cases (2%), and other system anomalies, 26 cases (3.6%). Among the cases with DS with congenital heart defects, the most common cardiac anomaly was atrioventricular septal defect (30%) followed by atrial septum defect (25%), ventricular septal defect (22%), patent ductus arteriosus (5%), coarctation of aorta (5%), and tetralogy of Fallot (3%). Among the cases with DS with a digestive system anomaly recorded, duodenal atresia (67%), Hirschsprung disease (14%), and tracheo-esophageal atresia (10%) were the most common. Fourteen (2%) of the cases with DS had an obstructive anomaly of the renal pelvis, including hydronephrosis. The other most common anomalies associated with cases with DS were syndactyly, club foot, polydactyly, limb reduction, cataract, hydrocephaly, cleft palate, hypospadias and diaphragmatic hernia. Many studies to assess the anomalies associated with DS have reported various results. There is no agreement in the literature as to

  6. Imaging modalities used to confirm diaphragmatic hernia in small animals

    International Nuclear Information System (INIS)

    Williams, J.; Leveille, R.; Myer, C.W.

    1998-01-01

    When a patient is presented for treatment following a traumatic accident such as being hit by a car, thoracic radiographs are usually an integral part of the overall diagnostic evaluation. Diagnosis at diaphragmatic hernia (DH) is often challenging in small animals. The thorax may contain substantial fluid, thereby masking the presence of cranially displaced abdominal soft tissues (e.g., liver or spleen). The most common cause of decreased radiographic visualization of the diaphragm on survey radiographs is pleural fluid; however, the second most common cause is DH. Obviously, if a gas-filledviscus is identified within the thoracic cavity on survey radiographs, the diagnosis of DH is straightforward and relatively routine. If, however, there is substantial pleural effusion and the herniated structure is a soft tissue parenchymal organ (e.g., liver or spleen), the diagnosis is less clearly defined on survey radiographs. This review discusses the various imaging modalities (survey, positional, and contrast-enhanced radiographs and ultrasonography) that can be used in the diagnosis or confirmation of DH

  7. Scintigraphic Demonstration of Trans-Diaphragmatic Migration of Ascites

    Energy Technology Data Exchange (ETDEWEB)

    Seo, Heung Suk; Kang, Chong Myun; Cho, Suk Shin [Hanyang University College of Medicine, Seoul (Korea, Republic of)

    1987-03-15

    There are many disease in which pleural effusion develops without direct extension of the offending organism or cell into the thorax. They are intraabdominal or retroperitoneal in location and involve the transfer of fluid from below the diaphragm into the pleural space. Pleural involvement from subphrenic inflammation is easy to understand, but the precise mechanism of migration of noninflammatory ascites through diaphragm is not clear in the patients with liver cirrhosis, Meigs's syndrome or peritoneal dialysis. We report a case where trans-diaphragmatic migration of peritoneal fluid has been demonstrated in a patient with peritoneal dialysis by scintigraphic method, with a brief review of literatures about the possible mechanisms. Scintigraphic study can show the source of pleural effusion and can suggest the mechanism of migration of ascites in the patients with liver cirrhosis, Meigs' syndrome, and also in patients with peritoneal dialysis. And thus we can manage the patient properly by coping with possible situations if hydrothorax developed.

  8. Demonstrating the effect of theophylline treatment on diaphragmatic movement in chronic obstructive pulmonary disease patients by MR-fluoroscopy

    Energy Technology Data Exchange (ETDEWEB)

    Etlik, Omer E-mail: omeretlik@hotmail.com; Sakarya, M. Emin; Uzun, Kursat; Harman, Mustafa; Temizoz, Osman; Durmus, Ahmet

    2004-08-01

    Introduction: The purpose of this study was to determine the increase in diaphragmatic excursion of patients with chronic obstructive pulmonary disease (COPD) treated with theophylline by MR-fluoroscopy which is an innovative method to demonstrate effectiveness of this treatment. Materials and methods: Investigations were performed on a 0.3 T open MR unit. MR-fluoroscopy images of 30 patients with COPD were obtained before and after theophylline treatment. Diaphragmatic movement values were recorded for evaluation. Results: The response of the diaphragmatic movement in COPD patients treated with theophylline was evaluated by MR-fluoroscopy and an increase of 48% in diaphragmatic contractility was determined after the treatment. The increase in contractility was found to be parallel with respiratory function tests and clinical status. Conclusion: Diaphragmatic movement and response to the medical therapy in patients with COPD can be evaluated by MR-fluoroscopy method which can allow accurate measurements.

  9. Echocardiographic evaluation of coronary arteries in congenital heart disease.

    Science.gov (United States)

    Freire, Grace; Miller, Michelle S

    2015-12-01

    Among populations of patients with the congenital heart disease, there is considerable diversity in the anatomy of the coronary arteries. Understanding these anatomical differences is vitally important in directing interventions and surgical repair. In this report, the authors describe the echocardiographic evaluation of the variants of coronary artery anatomy in the following lesions: transposition of the great arteries, congenitally corrected transposition of the great arteries, double-inlet left ventricle, common arterial trunk, tetralogy of Fallot, and double-outlet right ventricle.

  10. Lung hypoplasia and its associated major congenital abnormalities in perinatal death: an autopsy study of 850 cases.

    Science.gov (United States)

    Aghabiklooei, A; Goodarzi, P; Kariminejad, Mohammad H

    2009-11-01

    To determine the relative frequency of causes of lung hypoplasia (LH) and its associated congenital malformations among perinatal deaths. 850 medical reports of perinatal autopsies, in a 25-year period, assessed for LH as a cause of death. LH found in 96 (11.3%) cases, 89 (92.7%) were associated with major congenital malformation (secondary type) and primary type was seen in 7 cases (7.3%). Fourteen cases were associated with multiple congenital anomalies. 32 cases (33.3%) with Genito-urinary anomalies were the most common associated major malformations, followed by 19 cases (19.8%) of diaphragmatic impairment, 15 cases (15.6%) of musculoskeletal abnormalities and 11 cases (11.4%) of kidney agenesis. The most common musculoskletal abnormality was thanatophoric dwarfism in 10 cases (10.4%). Meckle-Gruber syndrome with 7 affected fetuses (7.3%) was the most common malformation syndrome associated with LH. More than ninety percent of LH was secondary to pathology outside the respiratory tract. Renal agenesis is the most common association observed in LH, followed by diaphragmatic hernia and thanatophoric dysplasia.

  11. FRACTURES OF THE RIBS AND THE DIAPHRAGMATIC RUPTURE WITH A FORMATION OF THE TRANSDIAPHRAGMATIC INTERCOSTAL HERNIA AS A RESULT OF SEVERE COUGHING (CLINICAL OBSERVATION WITH A REVIEW OF THE LITERATURE

    Directory of Open Access Journals (Sweden)

    S. N. Danielyan

    2014-01-01

    Full Text Available ABSTRACT. Severe coughing might lead to development of a number of complications, including the diaphragmatic rupture and the ribs fractures. The report contains two similar rare clinical cases: male patients aged 48 and 74 years with transdiaphragmatic intercostal thoracic wall hernia after the rupture of the left half of the diaphragm and ribs fractures as a result of violent coughing. Both patients had a late diagnosis of injuries. Surgical therapy was performed via thoracotomy access using a mesh implant. histological study of the rib in the damaged area in one case detected fibrous osteodysplasia. The review of literature on this rare type of injury was analyzed. 

  12. Robot-assisted repair of diaphragmatic hernias following ventricular assist device implantation.

    Science.gov (United States)

    Ongele, M O; Benrashid, E; Gilmore, B F; Schroder, J; Hartwig, M; Zani, S

    2018-02-01

    Use of ventricular assist devices (VADs) is increasingly common, as is the need for surgeons to be familiar with the management of common complications in this population. Nonetheless, repair of diaphragmatic hernias which commonly develop following VAD implantation remains technically challenging due to intra-abdominal adhesions and the proximity of vital structures. Despite the potential benefits of improved dexterity and visualization, robotic approaches have thus far not been used to address this. We present the first two described cases of robot-assisted repair of diaphragmatic hernias in the setting of prior or current VAD placement.

  13. Radiographic diagnosis of diaphragmatic hernia: review of 60 cases in dogs and cats.

    Science.gov (United States)

    Hyun, Changbaig

    2004-06-01

    Sixty cases of diaphragmatic hernia in dogs and cats were radiologically reviewed and categorized by their characteristic radiographic signs. Any particular predilection for age, sex, or breed was not observed. Liver, stomach and small intestine were more commonly herniated. At least two radiographs, at different angles, were required for a valid diagnosis, because some radiographic signs were not visible in a single radiographic view and more clearly detectable in two radiographic views. In addition to previously reported radiographic signs for diaphragmatic hernia, we found that the location of the stomach axis and the displacement of tracheal and bronchial segments were also useful radiographic signs.

  14. Cytomegalovirus Congenital Cataract

    Directory of Open Access Journals (Sweden)

    Ridha Wahyutomo

    2011-06-01

    Full Text Available Cytomegalovirus congenital infection is an infection caused by the the subfamily â Herpesviridae, during pregnancy. The incidence of infections among newborn infants is 1 %. One of the effects of congenitally acquired infection is the congenital cataract. A 6-year-old child complained to have a blurred vision diagnosed with cytomegalovirus congenital cataract. The diagnosis was confirmed by a positive serology testing for Ig M and Ig G CMV. The laboratory test using Giemsa staining to find inclusion bodies and a faster PCR could not be carried out (Sains Medika, 3(1:84-88.

  15. Genetics Home Reference: congenital hypothyroidism

    Science.gov (United States)

    ... Facebook Twitter Home Health Conditions Congenital hypothyroidism Congenital hypothyroidism Printable PDF Open All Close All Enable Javascript to view the expand/collapse boxes. Description Congenital hypothyroidism is a partial or complete loss of function ...

  16. An exceptional combination of congenital coronary anomalies.

    Science.gov (United States)

    Kharrat, Ilyes; El-Fassy, Eric; Amabile, Nicolas

    2012-01-01

    We present a case of congenital coronary artery anomalies combining the absence of the circumflex artery, ectopic origins of left anterior descending and diagonal arteries and abnormal courses of these vessels. These rare anomalies were detected during an elective coronary angiography in a patient with stable angina that was related to significant stenosis of the posterolateral and middle right coronary artery. A computed tomography scanner with three-dimensional reconstructions confirmed the anatomy. Copyright © 2011 Wiley Periodicals, Inc.

  17. A virilized patient with congenital hemihypertrophy.

    OpenAIRE

    Mark, S.; Clark, O. H.; Kaplan, R. A.

    1994-01-01

    An 18 year old woman with congenital hemihypertrophy of her left side, presented with the rapid onset of virilism, hypertension and a cushingoid appearance. A computed tomographic examination revealed adrenal and hepatic masses. Adrenocortical carcinoma was confirmed by surgical pathology. Hemihypertrophy is linked to a variety of benign and malignant disorders that usually appear during childhood. These disorders include adrenocortical carcinoma and hepatoblastoma. We bring this case to clin...

  18. Congenital lobar emphysema in neonates: Anaesthetic challenges

    Directory of Open Access Journals (Sweden)

    Mridu Paban Nath

    2011-01-01

    Full Text Available Congenital lobar emphysema (CLE is a potentially reversible, though possibly life-threatening, cause of respiratory distress in the neonate. It poses dilemma in diagnosis and management. We are presenting a 6-week-old baby who presented with a sudden onset of respiratory distress related to CLE affecting the left upper lobe. Lobectomy was performed under general anaesthesia with one lung ventilation. The details of anaesthetic challenges and management are described here.

  19. Mitochondrial disorders in congenital myopathies

    Directory of Open Access Journals (Sweden)

    D. A. Kharlamov

    2014-01-01

    Full Text Available The literature review gives data on the role of mitochondrial disorders in the pathogenesis of congenital myopathies: congenital muscular dystrophies and congenital structural myopathies. It describes changes in congenital muscular dystrophies with type VI collagen, in myodystrophy with giant mitochondria, in congenital central core myopathies, myotubular myopathy, etc. Clinical and experimental findings are presented. Approaches to therapy for energy disorders in congenital myopathies are depicted.

  20. Surgical and nonsurgical treatment of peritoneopericardial diaphragmatic hernia in dogs and cats: 58 cases (1999-2008).

    Science.gov (United States)

    Burns, Colby G; Bergh, Mary Sarah; McLoughlin, Mary A

    2013-03-01

    To determine clinical findings and outcomes for cats and dogs with peritoneopericardial diaphragmatic hernia (PPDH) treated surgically or nonsurgically. Retrospective case series. 28 dogs and 30 cats. Medical records for cats and dogs evaluated at 1 of 2 veterinary teaching hospitals were reviewed, and data regarding clinical signs, diagnostic and surgical findings, and outcome were evaluated. Prevalence of PPDH in the 2 hospitals during the study period was 0.025% (0.062% and 0.015% for cats and dogs, respectively); PPDH was an incidental finding for 13 (46.4%) dogs and 15 (50.0%) cats. Other congenital abnormalities were identified in 16 (571%) dogs and 7 (23.3%) cats (most commonly umbilical hernias, abdominal wall hernias cranial to the umbilicus, or sternal anomalies). Thirty-four (58.6%) animals underwent surgical repair of PPDH; 27 (79.4%) of these animals had a primary diagnosis of PPDH. Detection of clinical signs of PPDH (primary diagnosis) and intestines in the pericardial sac were significantly associated with surgical treatment. Short-term mortality rate for surgically treated animals was 8.8% (3/34). Clinical signs associated with PPDH resolved in 29 (85.3%) of surgically treated animals. No significant differences were detected between dogs and cats or between surgically and nonsurgically treated animals regarding long-term survival rate. Results of this study indicated animals with clinical signs of PPDH were more likely to undergo surgery than were animals without such signs. Herniorrhaphy was typically effective for resolution of clinical signs. Long-term survival rates were similar regardless of treatment method. Surgical or nonsurgical treatment of PPDH may be appropriate for animals with or without clinical signs, respectively.

  1. Nitrofurantoin and congenital abnormalities

    DEFF Research Database (Denmark)

    Czeizel, A.E.; Rockenbauer, M.; Sørensen, Henrik Toft

    2001-01-01

    Objective: To study human teratogenic potential of oral nitrofurantoin treatment during pregnancy. Materials and Methods: Pair analysis of cases with congenital abnormalities and matched population controls in the population-based dataset of the Hungarian Case-Control Surveillance of Congenital...

  2. Congenital heat disease

    International Nuclear Information System (INIS)

    Higgins, C.B.; Silverman, N.H.; Kersting-Somerhoff, B.A.

    1990-01-01

    The book covers the tomographic anatomy of the normal and congenitally malformed heart and tomographic imaging of the normal heat. It then compares echocardiographic evaluation and the use of MR imaging in the diagnosis and evaluation of individual congenital cardiac malformations

  3. Congenital ventricular diverticulum and MI – Diagnostic challenges and implications

    Directory of Open Access Journals (Sweden)

    Fayez Elshaer

    2015-10-01

    Full Text Available The use of modern cardiac imaging techniques suggests that congenital ventricular diverticulum (CVD may be more common than generally believed and may present asymptomatically in adult life. We present a case of congenital left ventricular diverticulum diagnosed in a patient presenting with myocardial infarction (MI. The case highlights the importance of the differential diagnosis of CVD from post infarct left ventricular aneurysms (PILVA and suggests that adult studies using modern imaging techniques are needed to define the prognosis for asymptomatic CVD in order to guide management.

  4. Diaphragmatic pacing stimulation in spinal cord injury: anesthetic and perioperative management

    Directory of Open Access Journals (Sweden)

    Miguel L. Tedde

    2012-11-01

    Full Text Available OBJECTIVE: The standard therapy for patients with high-level spinal cord injury is long-term mechanical ventilation through a tracheostomy. However, in some cases, this approach results in death or disability. The aim of this study is to highlight the anesthetics and perioperative aspects of patients undergoing insertion of a diaphragmatic pacemaker. METHODS: Five patients with quadriplegia following high cervical traumatic spinal cord injury and ventilator-dependent chronic respiratory failure were implanted with a laparoscopic diaphragmatic pacemaker after preoperative assessments of their phrenic nerve function and diaphragm contractility through transcutaneous nerve stimulation. ClinicalTrials.gov: NCT01385384. RESULTS: The diaphragmatic pacemaker placement was successful in all of the patients. Two patients presented with capnothorax during the perioperative period, which resolved without consequences. After six months, three patients achieved continuous use of the diaphragm pacing system, and one patient could be removed from mechanical ventilation for more than 4 hours per day. CONCLUSIONS: The implantation of a diaphragmatic phrenic system is a new and safe technique with potential to improve the quality of life of patients who are dependent on mechanical ventilation because of spinal cord injuries. Appropriate indication and adequate perioperative care are fundamental to achieving better results.

  5. Natural history of extensive diaphragmatic injury on the right side: experimental study in rats

    Directory of Open Access Journals (Sweden)

    Jorge Henrique Rivaben

    2014-08-01

    Full Text Available OBJECTIVE: To evaluate the natural healing of the rat diaphragm that suffered an extensive right penetrating injury.METHODS: Animals were submitted to an extensive penetrating injury in right diaphragm. The sample consisted of 40 animals. The variables studied were initial weight, weight 21 days after surgery; healing of the diaphragm, non-healing of the diaphragm, and herniated abdominal contents into the chest.RESULTS: Ten animals were used as controls for weight and 30 animals were operated. Two animals died during the experiment, so 28 animals formed the operated group; healing of the diaphragm occurred in 15 animals (54%, 11 other animals showed diaphragmatic hernia (39% and in two we observed only diaphragmatic injury without hernia (7%. Among the herniated organs, the liver was found in 100% of animals, followed by the omentum in 77%, small bowel in 62%, colon in 46%, stomach in 31% and spleen in 15%. The control group and the diaphragmatic healing subgroup showed increased weight since the beginning of the study and the 21 days after surgery (p <0.001. The unhealed group showed no change in weight (p = 0.228.CONCLUSION: there is a predominance of spontaneous healing in the right diaphragm; animals in which there was no healing of the diaphragm did not gain weight, and the liver was the organ present in 100% the diaphragmatic surface in all rats with healed diaphragm or not.

  6. Clinical, echocardiographic, and radiographic findings of peritoneopericardial diaphragmatic hernia in two dogs and a cat

    International Nuclear Information System (INIS)

    Hay, W.H.; Woodfield, J.A.; Moon, M.A.

    1989-01-01

    Peritoneopericardial diaphragmatic hernia was diagnosed in 2 dogs and a cat. One dog was referred because of clinical signs of cardiac tamponade and acute decompensation from liver entrapment within the hernia. Surgical correction of the hernia alleviated clinical signs in all 3 animals. Echocardiography was used in combination with radiography to provide a rapid and accurate diagnosis

  7. ARE LEFT HANDED SURGEONS LEFT OUT?

    OpenAIRE

    SriKamkshi Kothandaraman; Balasubramanian Thiagarajan

    2012-01-01

    Being a left-handed surgeon, more specifically a left-handed ENT surgeon, presents a unique pattern of difficulties.This article is an overview of left-handedness and a personal account of the specific difficulties a left-handed ENT surgeon faces.

  8. Traumatic diaphragmatic rupture with combined thoracoabdominal injuries: Difference between penetrating and blunt injuries

    Directory of Open Access Journals (Sweden)

    Gao Jinmou

    2015-07-01

    Full Text Available Purpose: Traumatic diaphragmatic rupture (TDR needs early diagnosis and operation. However, the early diagnosis is usually difficult, especially in the patients without diaphragmatic hernia. The objective of this study was to explore the early diagnosis and treatment of TDR. Methods: Data of 256 patients with TDR treated in our department between 1994 and 2013 were analyzed retrospectively regarding to the diagnostic methods, percentage of preoperative judgment, incidence of diaphragmatic hernia, surgical procedures and outcome, etc. Two groups were set up according to the mechanism of injury (blunt or penetrating. Results: Of 256 patients with a mean age of 32.4 years (9e84, 218 were male. The average ISS was 26.9 (13e66; and shock rate was 62.9%. There were 104 blunt injuries and 152 penetrating injuries. Preoperatively diagnostic rate was 90.4% in blunt injuries and 80.3% in penetrating, respectively, P < 0.05. The incidence of diaphragmatic hernia was 94.2% in blunt and 15.1% in penetrating respectively, P < 0.005. Thoracotomy was performed in 62 cases, laparotomy in 153, thoracotomy plus laparotomy in 29, and combined thoraco-laparotomy in 12. Overall mortality rate was 12.5% with the average ISS of 41.8; and it was 21.2% in blunt injuries and 6.6% in penetrating, respectively, P < 0.005. The main causes of death were hemorrhage and sepsis. Conclusions: Diagnosis of blunt TDR can be easily obtained by radiograph or helical CT scan signs of diaphragmatic hernia. For penetrating TDR without hernia, “offside sign” is helpful as initial assessment. CT scan with coronal/sagittal reconstruction is an accurate technique for diagnosis. All TDR require operation. Penetrating injury has a relatively better prognosis.

  9. Left Right Patterning, Evolution and Cardiac Development

    Directory of Open Access Journals (Sweden)

    Iain M. Dykes

    2014-04-01

    Full Text Available Many aspects of heart development are determined by the left right axis and as a result several congenital diseases have their origins in aberrant left-right patterning. Establishment of this axis occurs early in embryogenesis before formation of the linear heart tube yet impacts upon much later morphogenetic events. In this review I discuss the differing mechanisms by which left-right polarity is achieved in the mouse and chick embryos and comment on the evolution of this system. I then discus three major classes of cardiovascular defect associated with aberrant left-right patterning seen in mouse mutants and human disease. I describe phenotypes associated with the determination of atrial identity and venous connections, looping morphogenesis of the heart tube and finally the asymmetric remodelling of the embryonic branchial arch arterial system to form the leftward looped arch of aorta and associated great arteries. Where appropriate, I consider left right patterning defects from an evolutionary perspective, demonstrating how developmental processes have been modified in species over time and illustrating how comparative embryology can aide in our understanding of congenital heart disease.

  10. The renin–angiotensin–aldosterone-system and right heart failure in congenital heart disease

    OpenAIRE

    Stine Andersen, Stine Andersen; Andersen, Asger; Nielsen-Kudsk, Jens Erik

    2017-01-01

    Adults with congenital heart disease represent a rapidly growing patient group. Dysfunction of the right ventricle is often present, and right heart failure constitutes the main cause of death. Heart failure therapies used in acquired left heart failure are often initiated in adults with right heart failure due to congenital heart disease, but the right ventricle differs substantially from the left ventricle, and the clinical evidence for this treatment strategy is lacking. In this review,...

  11. Is non-operative approach applicable for penetrating injuries of the left thoraco-abdominal region?

    Directory of Open Access Journals (Sweden)

    Osman Kones

    2016-03-01

    Full Text Available Objectives: Currently, diagnostic laparoscopy (DL is recommended for the left thoraco-abdominal region penetrating injuries (LTARP. However, organ and diaphragmatic injury may not be detected in all of these patients. Our aim is to focus on this LTARP patient group without any operative findings and to highlight the evaluation of diagnostic tools in the high-tech era for a possible selected conservative treatment. Material and methods: The patients who were admitted to ED due to LTARP, and who underwent routine DL were evaluated retrospectively in terms of demographic, clinical, radiological, and operative findings of the patients. Results: The current study included 79 patients with LTARP. In 44 of 79 patients, abdominal injury was not detected. In 30 patients an isolated diaphragmatic injury was revealed and in 4 patients a visceral injury was accompanying to diaphragmatic injury. Surgical findings revealed that the diaphragm was the organ most likely to sustain injury. In patients with more than one positive diagnostic findings need for surgery rate was 61.5%, however; in patients with one positive diagnostic finding (n = 53, positive surgical finding rate was only 35.8%, (p = 0.03. Regarding the combined use of all diagnostic tools in these patients; such as physical examination, plain chest X-ray, and computed tomography, when this method was used for pre-operative diagnosis, sensitivity was measured as 82.7%, specificity 84.1%, PPV 77.4% and NPV 88.1%. Conclusion: Although DL is reliable for diagnosis of diaphragmatic and visceral injury in patients with LTARP. However, individual decision making for laparoscopic intervention is needed to prevent morbidity of an unnecessary operation under emergent setting due to high rates of negative intraabdominal findings. Keywords: Wounds penetrating, Physical examination, Diagnostic imaging, Treatment outcome

  12. Congenital Ocular Motor Apraxia

    Directory of Open Access Journals (Sweden)

    J Gordon Millichap

    2007-06-01

    Full Text Available The clinical and neuroradiological findings, and long-term intellectual prognosis in 10 patients (4 boys and 6 girls with congenital ocular motor apraxia (COMA are reviewed by researchers at Tottori University, Yonago, Japan.

  13. Congenital pulmonary vein stenosis.

    Science.gov (United States)

    Manzar, Shabih

    2007-06-01

    A case of a newborn infant is described who presented with severe cyanosis at birth with rapid deterioration. The infant died at six hours of life. The diagnosis was determined at autopsy as congenital pulmonary vein stenosis.

  14. Congenital anterior urethral diverticulum

    International Nuclear Information System (INIS)

    Jung, Hyun Sub; Chung, Young Sun; Suh, Chee Jang; Won, Jong Jin

    1985-01-01

    Two cases of congenital anterior urethral diverticular which have occurred in a 4 year old and one month old boy are presented. Etiology, diagnostic procedures, and its clinical results are briefly reviewed

  15. Congenital orbital teratoma

    Directory of Open Access Journals (Sweden)

    Shereen Aiyub

    2013-01-01

    Full Text Available We present a case of mature congenital orbital teratoma managed with lid-sparing exenteration and dermis fat graft. This is a case report on the management of congenital orbital teratoma. A full-term baby was born in Fiji with prolapsed right globe which was surrounded by a nonpulsatile, cystic mass. Clinical and imaging features were consistent with congenital orbital teratoma. Due to limited surgical expertise, the patient was transferred to Adelaide, Australia for further management. The patient underwent a lid-sparing exenteration with frozen section control of the apical margin. A dermis fat graft from the groin was placed beneath the lid skin to provide volume. Histopathology revealed mature tissues from each of the three germ cell layers which confirmed the diagnosis of mature teratoma. We describe the successful use of demis fat graft in socket reconstruction following lid-sparing exenteration for congenital orbital teratoma.

  16. Giant congenital nevus

    Science.gov (United States)

    ... nevus; Giant hairy nevus; Giant pigmented nevus; Bathing trunk nevus; Congenital melanocytic nevus - large ... the spine) Involvement of the membranes of the brain and spinal cord when the nevus affects a ...

  17. Identification of congenital deafblindness

    DEFF Research Database (Denmark)

    Dammeyer, Jesper Herup

    2012-01-01

    For many reasons an accurate and straightforward identification of congenital deafblindness can be difficult. This article reports on the assessment procedures and experience in Denmark where medical examinations were combined with functional assessments performed through direct observation. The ...

  18. Persistent left superior vena cava in cardiac congenital surgery

    OpenAIRE

    Giuliani-Poncini, C.

    2013-01-01

    La persistance d'une veine cave supérieure gauche (VCSG) est une entité relativement fréquente dans le cadre des malformations cardiaques congénitales. Le but de cette étude est d'analyser à quel moment le diagnostic de la persistance de la VCSG est effectué, à quel moment le diagnostic des éventuelles anomalies du sinus coronarien associées est effectué, et de l'impact global de la persistance d'une VCSG sur la mortalité et la morbidité des patients après chirurgie cardiaque pour une malform...

  19. Congenital chylous ascites

    International Nuclear Information System (INIS)

    Romanska-Kita, J.; Borszewska-Kornacka, M. K.; Rudzinska, I.; Wawrzoniak, T.; Dobrzanska, A.; Czech-Kowalska, J.

    2011-01-01

    Congenital chylous ascites is a rare entity, conditioned by numerous factors and with changing dynamics of the disease. Because of the lack of therapeutic and diagnostic standards, this disease constitutes to be a medical challenge. This article presents current knowledge on pathogenesis, diagnostics and management of this disease, as well as a case of a newborn with primary congenital chylous ascites in the abdominal cavity. (authors)

  20. Congenital laryngeal anomalies,

    OpenAIRE

    Rutter, Michael J.

    2014-01-01

    Introduction: It is essential for clinicians to understand issues relevant to the airway management of infants and to be cognizant of the fact that infants with congenital laryngeal anomalies are at particular risk for an unstable airway. Objectives: To familiarize clinicians with issues relevant to the airway management of infants and to present a succinct description of the diagnosis and management of an array of congenital laryngeal anomalies. Methods: Revision article, in which the ma...

  1. Congenital gluteus maximus contracture.

    Science.gov (United States)

    Ganel, A; Blankstein, A

    1989-01-01

    Muscle contractures are infrequent in Israel. This report discusses one case of a congenital contracture associated with a skin dimple treated in Israel. A 3-year-old boy presented with difficulty in running, riding a bicycle, and squatting. Flexion of the right hip in adduction was impossible. The hip could be fully flexed in abduction. Congenital contracture of the right gluteus maximus muscle was successfully treated by surgical release.

  2. Symptomatic Type IV Dual Left Anterior Descending Coronary Artery

    Directory of Open Access Journals (Sweden)

    Kyriacos Papadopoulos MD

    2016-12-01

    Full Text Available Dual left anterior descending coronary artery is a rare congenital anomaly with 4 subtypes. Double left anterior descending coronary artery originating from the left main stem and the right coronary artery (type IV dual left anterior descending artery has been reported to occur in 0.01% to 0.7% of patients undergoing cardiac catheterization. We report a case of a 49-year-old woman who was found to have this anomaly during coronary angiography. The patient had been complaining of chest pain that mimics angina pectoris and exercise tolerance test was positive for myocardial ischemia.

  3. Congenital tricuspid valve disease and testicular agenesis: a case ...

    African Journals Online (AJOL)

    Cardinal clinical features include breathlessness, easy fatigability since childhood, stunted growth, cyanosis, finger clubbing, a pansystolic murmur loudest at the left sternal edge in the fourth intercostal space, and testicular agenesis. The rarity of congenital tricuspid valve disease is noted as well as the importance of a ...

  4. Lutembacher's syndrome: A rare combination of congenital and ...

    African Journals Online (AJOL)

    Lutembacher's syndrome is defined as the rare combination of congenital atrial septal defect and acquired mitral stenosis. The haemodynamic effects of this syndrome are a result of the interplay between the relative effects of the atrial septal defect and mitral stenosis. Mitral stenosis augments the left to right shunt through ...

  5. Congenital malformation of the systemic heart of Sepia officinalis l ...

    African Journals Online (AJOL)

    Numerous preparations of the circulatory system of Sepia officinalis L. caught from the Bay of Arcachon (Atlantic Coast of France) in 1989 and 1996 showed an obvious congenital malformation of the systemic heart complex. The malformation consisted of a cord- or truncus-like structure at the left cranio-apical ventricle.

  6. Congenital tricuspid valve disease and testicular agenesis: a case ...

    African Journals Online (AJOL)

    This is a report of a case of congenital tricuspid valve disease presenting with heart failure and pulmonary hypertension. Cardinal clinical features include breathlessness, easy fatigability since childhood, stunted growth, cyanosis, finger clubbing, a pansystolic murmur loudest at the left sternal edge in the fourth intercostal ...

  7. Cardiac Complications of Fukuyama-Type Congenital Muscular Dystrophy

    Directory of Open Access Journals (Sweden)

    J Gordon Millichap

    2006-07-01

    Full Text Available The course of left ventricular function was evaluated using M-mode and Doppler echocardiography in 34 patients with Fukuyama-type congenital muscular dystrophy (FCMD, in a study at the Tokyo Women’s Medical University, Tokyo, Japan.

  8. Cardiac Findings in Congenital Nephrotic Syndrome

    Directory of Open Access Journals (Sweden)

    Shamsi Ghaffari

    2011-08-01

    Full Text Available Introduction: Congenital nephrotic syndrome is a severe debilitating problem associated with extra renal manifestation such as diverse cardiac findings. Methods: During four years 6 cases diagnosed as congenital nephritic syndrome in base of definitive criteria their documents reviewed and echocardiographic evaluation has been done for all with or with-out cardiac sign or symptoms, results gathered and expressed as incidence. Results: All cases have some grades of structural or functional defects from simple form like as tricus-pid regurgitation to complex defects. It may be run in consecutively in siblings of a family from non consanguine parents. Conclusion: Pulmonary stenosis may occur in all parts subvalvualr, valvular and peripheral parts of pulmonary artery, left ventricular hypertrophy and mitral regurgitation observed in some, moderate tricuspid regurgitation observed in half of cases due to pulmonary hypertension or right ventricular hypertrophy due to pulmonary stenosis.

  9. Cardiac Findings in Congenital Nephrotic Syndrome

    Science.gov (United States)

    Malaki, Majid; Ghaffari, Shamsi; Ghaffari, Samad; Rastkar, Bahaman; Goldust, Mohammad; Malaki, Pouya; Sahar, Behnam

    2011-01-01

    Introduction Congenital nephrotic syndrome is a severe debilitating problem associated with extra renal manifestation such as diverse cardiac findings. Methods During four years, 6 cases diagnosed as congenital nephritic syndrome in base of definitive criteria their documents reviewed and echocardiographic evaluation has been done for all with or without cardiac sign or symptoms, results gathered and expressed as incidence. Results All cases have some grades of structural or functional defects from simple form like as tricuspid regurgitation to complex defects. It may be run in consecutively in siblings of a family from non consanguine parents. Conclusion Pulmonary stenosis may occur in all parts subvalvualr, valvular and peripheral parts of pulmonary artery, left ventricular hypertrophy and mitral regurgitation observed in some, moderate tricuspid regurgitation observed in half of cases due to pulmonary hypertension or right ventricular hypertrophy due to pulmonary stenosis. PMID:24250960

  10. [Clinical case--voluminous diaphragmatic hernia--surgically acute abdomen: diagnostic and therapeutical challenges].

    Science.gov (United States)

    Dumitrescu, D; Savlovschi, C; Borcan, R; Pantu, H; Serban, D; Gradinaru, S; Smarandache, G; Trotea, T; Branescu, C; Musat, L; Comandasu, M; Priboi, M; Baldir, M; Sandolache, B; Oprescu, S

    2011-01-01

    We present the case of a 58-year old male patient admitted in the surgery section of the University Emergency Hospital of Bucharest and diagnosed with acute abdomen. The minimal clinical-paraclinical investigation (i.e., thorax-pulmonary Xray, biological probes) raises questions as to the differentiated diagnosis and other associated diseases, also suggesting the existence of voluminous diaphragmatic hernia. The CT thorax-abdomen examination confirms the diaphragmatic hernia suspicion, with intra-thorax ascent of the colon up to the anterior C4 level, but does not explain the abdominal suffering; thus we suspected a biliary ileus or acute appendicitis. Medial laparotomy was imperative. Intrasurgically peritonitis was noticed located by gangrenous acute apendicitis, perforated, with coprolite, for which apendictomy and lavage-drainage pf the peritoneal cavity was performed. Post-surgical status: favourable to recovery.

  11. Case report: Non-invasive neurally adjusted ventilatory assist in a newborn with unilateral diaphragmatic paralysis.

    Science.gov (United States)

    Roosens, Sander; Derriks, Frank; Cools, Filip

    2016-11-01

    Diaphragmatic paralysis is a rare cause of respiratory distress in the newborn. In this paper, a patient with unilateral phrenic nerve injury after traumatic delivery is presented. The child inadequately responded to standard respiratory supportive measures. Non-invasive neurally adjusted ventilatory assist (NIV-NAVA®), providing an optimally synchronized respiratory support proportional to the effort of the patient, resulted in prompt clinical and biological improvement of the patient's respiratory condition. NAVA is a relatively new mode of ventilation in neonatal care. In this case of unilateral diaphragmatic paralysis, it provided an alternative strategy of non-invasive respiratory support avoiding prolonged mechanical ventilation. Pediatr Pulmonol. 2016;51:E37-E39. © 2016 Wiley Periodicals, Inc. © 2016 Wiley Periodicals, Inc.

  12. Fluorouracil implants caused a diaphragmatic tumor to be misdiagnosed as liver metastasis: a case report

    International Nuclear Information System (INIS)

    Shen, Yang-Yang; Qin, Hong-Wei; Zhang, Jian-Bo; Wang, Zhen-Dan; Li, Pang; Pang, Kai; Zhang, Bo; Li, Sheng; Cui, Kai

    2016-01-01

    Fluorouracil implants are widely used in peritoneal interstitial chemotherapy. Curative effects have been obtained, but implants have also caused some complications. We performed an analysis of a 66-year-old male patient’s case history, as well as conventional pathological analysis and Raman spectroscopic detection of the diaphragmatic tumor. We also analyzed the underlying causes of this condition to prevent complications and reduce misdiagnoses in future cases. The patient had a history of peritoneal fluorouracil implantation. Pathological analysis of the diaphragmatic mass revealed foreign particles, and Raman detection showed that the mass contained fluorouracil. Fluorouracil implants may persist due to the high concentrations of this drug used in peritoneal chemotherapy. This finding should provide guidance and improve the application of peritoneal implants. In clinical trials, and the diagnosis of liver metastasis should be based on pathological results

  13. Postnatal MRI for CDH: A pictorial review of late-presenting and recurrent diaphragmatic defects.

    Science.gov (United States)

    Kim, Wendy; Courtier, Jesse; Morin, Cara; Shet, Narendra; Strauch, Eric; Kim, Jane S

    Late-presenting or recurrent diaphragmatic defects can pose a diagnostic challenge due to varying clinical presentations. Current diagnostic approaches include plain film radiograph for initial assessment, with other imaging modalities such as fluoroscopy, ultrasound, CT and MRI mainly utilized for troubleshooting. As a radiation-free modality, MRI can provide a more definitive diagnosis in particular cases due to its ability to visualize discontinuity of the diaphragm, distinguishing it from eventration. MRI can also accurately characterize hernia contents, defect location and size. We present our MRI technique and review cases of different hernia types with relevant discussion of the imaging findings and correlation with intraoperative findings. MRI can be a useful diagnostic tool in the assessment of late presenting or recurrent diaphragmatic hernias. Copyright © 2017 Elsevier Inc. All rights reserved.

  14. Effect of upper costal and costo-diaphragmatic breathing types on electromyographic activity of respiratory muscles.

    Science.gov (United States)

    Celhay, Isabel; Cordova, Rosa; Miralles, Rodolfo; Meza, Francisco; Erices, Pia; Barrientos, Camilo; Valenzuela, Saúl

    2015-04-01

    To compare electromyographic (EMG) activity in young-adult subjects with different breathing types. This study included 50 healthy male subjects with complete natural dentition, and no history of orofacial pain or craniomandibular-cervical-spinal disorders. Subjects were classified into two groups: upper costal breathing type, and costo-diaphragmatic breathing. Bipolar surface electrodes were located on sternocleidomastoid, diaphragm, external intercostal, and latissimus dorsi muscles. Electromyographic activity was recorded during the following tasks: (1) normal quiet breathing; (2) speaking the word 'Mississippi'; (3) swallowing saliva; and (4) forced deep breathing. Sternocleidomastoid and latissimus dorsi EMG activity was not significantly different between breathing types, whereas diaphragm and external intercostal EMG activity was significantly higher in the upper costal than costo-diaphragmatic breathing type in all tasks (P<0·05; Wilcoxon signed rank-sum test). Diaphragm and external intercostal EMG activity suggests that there could be differences in motor unit recruitment strategies depending on the breathing type.

  15. Congenital diaphragmatic hernia interval on chromosome 8p23.1 characterized by genetics and protein interaction networks

    DEFF Research Database (Denmark)

    Longoni, Mauro; Hansen, Kasper Lage; Russell, Meaghan K.

    2012-01-01

    expressed in the E11.5–12.5 primordial mouse diaphragm, the developmental stage at which CDH is thought to occur. This combination of bioinformatics and expression studies can be applied to other chromosomal hotspots, as well as private microdeletions or microduplications, to identify causative genes...

  16. High Frequency Jet Ventilation during Initial Management, Stabilization, and Transport of Newborn Infants with Congenital Diaphragmatic Hernia: A Case Series

    Directory of Open Access Journals (Sweden)

    Qianshen Zhang

    2013-01-01

    Full Text Available Objective. To review experience of the transport and stabilization of infants with CDH who were treated with high frequency jet ventilation (HFJV. Study Design. Retrospective chart review was performed of infants with antenatal diagnosis of CDH born between 2004 and 2009, at Mount Sinai Hospital Toronto, Ontario, Canada. Detailed information was abstracted from the charts of all infants who received HFJV. Results. Of the 55 infants, 25 were managed with HFJV at some point during resuscitation and stabilization prior to transport. HFJV was the initial ventilation mode in six cases and nineteen infants were placed on HFJV as rescue therapy. Blood gases procured from the umbilical artery before and/or after the initiation of HFJV. There was a significant difference detected for both PaCO2 (P=0.0002 and pH (P<0.0001. The pre- and posttransport vital signs remained stable and no transport related deaths or significant complications occurred. Conclusion. HFJV appears to be safe and effective providing high frequency rescue therapy for infants with CDH failing conventional mechanical ventilation. This paper supports the decision to utilize HFJV as it likely contributed to safe transport of many infants that would not otherwise have tolerated transport to a surgical centre.

  17. Hérnia Diafragmática Congênita: Relato de Caso/ Congenital Diaphragmatic Hernia: Case Report

    OpenAIRE

    Lucas Tavares dos Santos; Tânia Massini Evangelista

    2013-01-01

    Introdução: A hérnia diafragmática congênita é a falha do fechamento embrionário do músculo diafragmático, resultando em um defeito de continuidade. Esta patologia pode ocorrer pela passagem de estruturas do abdome através de um defeito no diafragma, ou haver herniação parcial do estômago através do hiato esofágico, paralisia frênica com deslocamento do conteúdo abdominal para cima, mas sem herniação, e, eventração do diafragma. Casuística: Foi relatado um caso de hérnia diafragmática congêni...

  18. Pulmonary surfactant disaturated-phosphatidylcholine (DSPC) turnover and pool size in newborn infants with congenital diaphragmatic hernia (CDH).

    Science.gov (United States)

    Cogo, Paola E; Zimmermann, Luc J I; Meneghini, Luisa; Mainini, Nicoletta; Bordignon, Linda; Suma, Vincenzo; Buffo, Marika; Carnielli, Virgilio P

    2003-11-01

    In animal CDH models, surfactant deficiency contributes to the pathophysiology of the condition but information on human disease is very limited. The aim of our study was to investigate surfactant kinetics in CDH newborns. We studied surfactant disaturated-phosphatidylcholine (DSPC) half-life, turnover and apparent pool size by stable isotope methodology in CDH newborns with no ExtraCorporeal Membrane Oxygenation (ECMO) support (n = 13, birth weight (BW) 3.2 +/- 2.2 kg, gestational age (GA) 39 +/- 0.4 wks, postnatal age 43 +/- 11 h) and in 8 term infants with no lung disease (CONTROLS, BW 2.7 +/- 0 kg, GA 38 +/- 0.8 wks, postnatal age 96 +/- 26 h). We administered a trace dose of 13C-palmitic acid dipalmitoyl-phosphatidylcholine (DPPC) through the endotracheal (ET) tube and we measured DSPC kinetics by gas chromatography-mass spectrometry from DSPC13C-enrichment decay curves obtained from sequential tracheal aspirates. DSPC amount from tracheal aspirates (TA-DSPC) was measured by gas chromatography. In CDH infants DSPC half-life was shorter (24 +/- 4 and 53 +/- 11 h, p = 0.01), turnover faster (0.6 +/- 0.1 and 1.5 +/- 0.3 d-1 p = 0.01), apparent pool size smaller (34 +/- 6 and 57 +/- 7 mg/kg body weight, p = 0.02) and tracheal aspirates DSPC amount lower (2.4 +/- 0.4 and 4.6 +/- 0.5 mg/mL Epithelial Lining Fluid (ELF), p = 0.007) than in CONTROLS. In conclusion surfactant kinetics is grossly abnormal in mechanically ventilated CDH. Whether alterations of DSPC kinetics in CDH infants are caused by a primary surfactant deficiency or are secondary to oxygen therapy and ventilator support has still to be determined.

  19. Late surgical outcomes among congenital diaphragmatic hernia (CDH) patients: why long-term follow-up with surgeons is recommended.

    Science.gov (United States)

    Jancelewicz, Tim; Chiang, Monping; Oliveira, Carol; Chiu, Priscilla P

    2013-05-01

    CDH patients experience multi-system morbidity. Despite apparent health, late childhood complications do occur. We reviewed the long-term surgical morbidity of our CDH patients to determine whether protracted clinical surveillance is warranted. A single-institution retrospective chart review of all CDH survivors treated from 1999 to 2011 who are followed at our CDH multidisciplinary clinic was performed. Descriptive and statistical analyses were performed to show risk of surgical complications over time. A total of 187 CDH patients were treated with 160 surviving to discharge (86%). Primary repair was performed in 115 (73%), and 42 (27%) underwent patch repair. CDH recurrence occurred in 23 (15%) at a median time of 0.7 (range 0-8.5) years (65% asymptomatic). Seventy percent of recurrences occurred before 2 years and 17% after 4 years. Bowel obstruction occurred in 12 (8%) at a median time of 0.7 (range 0.2-7.2) years post-repair, and chest deformity occurred in 13 (8%) at a median of 5 (range 1.1-6.8) years. For patch repairs, scoliosis occurred in 4 (10%) patients at a median age of 3 (range 0.6-5) years. Surgical complications in CDH survivors are common, can occur many years later, and are frequently asymptomatic. Long-term surveillance of CDH patients is recommended for early identification and treatment of complications. Copyright © 2013 Elsevier Inc. All rights reserved.

  20. A Twenty-year Review of Early and Late-presenting Congenital Bochdalek Diaphragmatic Hernia: Are They Different Clinical Spectra?

    Directory of Open Access Journals (Sweden)

    Szu-Wen Chang

    2010-02-01

    Conclusion: Early-presenting CDH shows acute symptoms, is readily diagnosed, and requires prompt intervention to prevent death. In contrast, late-presenting CDH shows more subtle symptoms and is more difficult to diagnose. Although the late-presenting CHD has better prognosis, it still requires surgery intervention to alleviate the symptoms. Clinicians must maintain a high index of suspicion for CDH, regardless of its presentation.

  1. Prenatal MRI fetal lung volumes and percent liver herniation predict pulmonary morbidity in congenital diaphragmatic hernia (CDH).

    Science.gov (United States)

    Zamora, Irving J; Olutoye, Oluyinka O; Cass, Darrell L; Fallon, Sara C; Lazar, David A; Cassady, Christopher I; Mehollin-Ray, Amy R; Welty, Stephen E; Ruano, Rodrigo; Belfort, Michael A; Lee, Timothy C

    2014-05-01

    The purpose of this study was to determine whether prenatal imaging parameters are predictive of postnatal CDH-associated pulmonary morbidity. The records of all neonates with CDH treated from 2004 to 2012 were reviewed. Patients requiring supplemental oxygen at 30 days of life (DOL) were classified as having chronic lung disease (CLD). Fetal MRI-measured observed/expected total fetal lung volume (O/E-TFLV) and percent liver herniation (%LH) were recorded. Receiver operating characteristic (ROC) curves and multivariate regression were applied to assess the prognostic value of O/E-TFLV and %LH for development of CLD. Of 172 neonates with CDH, 108 had fetal MRIs, and survival was 76%. 82% (89/108) were alive at DOL 30, 46 (52%) of whom had CLD. Neonates with CLD had lower mean O/E-TFLV (30 vs.42%; p=0.001) and higher %LH (21.3±2.8 vs.7.1±1.8%; p20% (AUC=0.78; p20% were highly associated with indicators of long-term pulmonary sequelae. On multivariate analysis, %LH was the strongest predictor of CLD in patients with CDH (OR: 10.96, 95%CI: 2.5-48.9, p=0.002). Prenatal measurement of O/E-TFLV and %LH is predictive of CDH pulmonary morbidity and can aid in establishing parental expectations of postnatal outcomes. Copyright © 2014 Elsevier Inc. All rights reserved.

  2. Analysis of risk factors of long-term complications in congenital diaphragmatic hernia: A single institution's experience

    Directory of Open Access Journals (Sweden)

    Hajime Takayasu

    2017-01-01

    Conclusion: Patients who developed short-term complications seemed to be at risk of long-term complications. Therefore, to minimize long-term morbidities in CDH survivors, the prevention of short-term complications might be important.

  3. The problem of sterility in men and women after wide area sub-diaphragmatic irradiation

    International Nuclear Information System (INIS)

    Dana, M.; Weisgerber, C.; Teillet, F.; Desprez-Curely, J.P.; Goguel, A.; Chotin, G.; Bernard, J.

    1976-01-01

    Sub-diaphragmatic irradiation in an upside down Y pattern for Hodgkin's disease results in sterility in the woman. Protection consists of irradiating the lumbar chain only when possible or by displacement of the ovary before irradiation, and laterally for preference. Although subsequent pregnancy is then possible, the genetic risk remains. In the male, Y irradiation results in prolonged virtually complete azoospermia. Associated chemotherapy also causes definitive sterility in the male. Collection for a sperm bank before treatment is advised [fr

  4. Radiographic diagnosis of diaphragmatic hernia: review of 60 cases in dogs and cats

    International Nuclear Information System (INIS)

    Hyun, C.B.

    2004-01-01

    Sixty cases of diaphragmatic hernia in dogs and cats were radiologically reviewed and categorized by their characteristic radiographic signs. Any particular predilection for age, sex, or breed was not observed. Liver, stomach and small intestine were more commonly herniated. At least two radiographs, at different angles, were required for a valid diagnosis, because some radiographic signs were not visible in a single radiographic view and more clearly detectable in two radiographic views

  5. Diaphragmatic Breathing during Virtual Reality Exposure Therapy for Aviophobia: Functional Coping Strategy or Avoidance Behavior?

    OpenAIRE

    Mühlbauer, Andreas; Shiban, Youssef; Diemer, Julia Elisabeth; Müller, Jana; Brütting-Schick, Johanna; Pauli, Paul

    2017-01-01

    Background Although there is solid evidence for the efficacy of in vivo and virtual reality (VR) exposure therapy for a specific phobia, there is a significant debate over whether techniques promoting distraction or relaxation have impairing or enhancing effects on treatment outcome. In the present pilot study, we investigated the effect of diaphragmatic breathing (DB) as a relaxation technique during VR exposure treatment. Method Twenty-nine patients with aviophobia were randomly a...

  6. Congenital anomalies of the pulmonary arteries: spectrum of findings on computed tomography.

    Science.gov (United States)

    Bueno, J; Flors, L; Mejía, M

    Congenital anomalies of the pulmonary arteries are uncommon. They can occur in isolation or in association with congenital heart defects. Isolated congenital anomalies remain undiscovered until they are reported as incidental findings on imaging tests, usually not until adolescence. We review the embryological development and normal anatomy of the pulmonary arteries as well as the spectrum of computed tomography findings for various congenital anomalies: unilateral interruption of the pulmonary artery, anomalous origin of the left pulmonary artery (pulmonary artery sling), idiopathic aneurysm of the pulmonary artery, and other anomalies associated with congenital heart defects. Congenital anomalies of the pulmonary arteries represent a diagnostic challenge for clinicians and radiologists. Computed tomography is useful for their diagnosis, and general radiologists need to be familiar with their imaging appearance because they are often discovered incidentally. Copyright © 2016 SERAM. Publicado por Elsevier España, S.L.U. All rights reserved.

  7. Diaphragmatic function in severely malnourished patients with anorexia nervosa. Effects of renutrition.

    Science.gov (United States)

    Murciano, D; Rigaud, D; Pingleton, S; Armengaud, M H; Melchior, J C; Aubier, M

    1994-12-01

    The effects of malnutrition and refeeding on nutritional indices, pulmonary function, and diaphragmatic contractile properties were studied in severely malnourished patients with anorexia nervosa. Fifteen patients were evaluated upon hospital admission (Day 0) and on Days 7, 30, and 45 after starting feeding. Spirometry, lung volumes, and arterial blood gases were measured at each time interval, as were contractile properties of the diaphragm as assessed by transdiaphragmatic pressure generated during electrical phrenic nerve stimulation (Pdistim) and a maximal sniff maneuver (Pdisniff). Anthropomorphic and biochemical measurements were performed at each time interval. Patients were severely malnourished upon admission; mean body weight was 37.1 +/- 4.7 kg (63% ideal body weight). During nutritional support, body weight increased significantly to 42.9 +/- 4.6 kg on Day 45 (p 42 mm Hg) at Day 0, which returned to normal by Day 30. Diaphragmatic contractility was severely depressed initially; Pdistim, 15.9 +/- 1.4 cm H2O; Pdisniff, 65.4 +/- 5 cm H2O; but it significantly increased with nutritional support by Day 30 to 22.5 +/- 1.9 and 84.6 +/- 4.7 cm H2O, respectively. We conclude that diaphragmatic function is severely impaired in malnuorished patients free of other coexisting

  8. The association of congenital neuroblastoma and congenital heart disease

    International Nuclear Information System (INIS)

    Bellah, R.; D'Andrea, A.; Children's Hospital, Boston, MA; Darillis, E.; Fellows, K.E.

    1989-01-01

    Several authors have reported an association between neuroblastoma and congenital heart disease; others contend that, unlike specific wellknown associations between malignancy and congenital defects (Wilm's tumor and aniridia, leukemia and Down's syndrome), no real relationship exists. We present three cases of cyanotic congenital heart disease in which subclinical neuroblastoma was found. We speculate that abnormal neural crest cell migration and development may be a common link between cardiac malformations and congenital neuroblastoma. (orig.)

  9. Congenital malaria in China.

    Directory of Open Access Journals (Sweden)

    Zhi-Yong Tao

    2014-03-01

    Full Text Available BACKGROUND: Congenital malaria, in which infants are directly infected with malaria parasites from their mother prior to or during birth, is a potentially life-threatening condition that occurs at relatively low rates in malaria-endemic regions. It is recognized as a serious problem in Plasmodium falciparum-endemic sub-Saharan Africa, where recent data suggests that it is more common than previously believed. In such regions where malaria transmission is high, neonates may be protected from disease caused by congenital malaria through the transfer of maternal antibodies against the parasite. However, in low P. vivax-endemic regions, immunity to vivax malaria is low; thus, there is the likelihood that congenital vivax malaria poses a more significant threat to newborn health. Malaria had previously been a major parasitic disease in China, and congenital malaria case reports in Chinese offer valuable information for understanding the risks posed by congenital malaria to neonatal health. As most of the literature documenting congenital malaria cases in China are written in Chinese and therefore are not easily accessible to the global malaria research community, we have undertaken an extensive review of the Chinese literature on this subject. METHODS/PRINCIPAL FINDINGS: Here, we reviewed congenital malaria cases from three major searchable Chinese journal databases, concentrating on data from 1915 through 2011. Following extensive screening, a total of 104 cases of congenital malaria were identified. These cases were distributed mainly in the eastern, central, and southern regions of China, as well as in the low-lying region of southwest China. The dominant species was P. vivax (92.50%, reflecting the malaria parasite species distribution in China. The leading clinical presentation was fever, and other clinical presentations were anaemia, jaundice, paleness, diarrhoea, vomiting, and general weakness. With the exception of two cases, all patients

  10. Anesthetic implications of total anomalous systemic venous connection to left atrium with left isomerism

    Directory of Open Access Journals (Sweden)

    Parimala Prasanna Simha

    2012-01-01

    Full Text Available Total anomalous systemic venous connection (TASVC to the left atrium (LA is a rare congenital anomaly. An 11-year-old girl presented with complaints of palpitations and cyanosis. TASVC with left isomerism and noncompaction of LV was diagnosed after contrast echocardiogram and computed tomography angiogram. The knowledge of anatomy and pathophysiology is essential for the successful management of these cases. Anesthetic concerns in this case were polycythemia, paradoxical embolism and rhythm abnormalities. The patient was successfully operated by rerouting the systemic venous connection to the right atrium.

  11. Congenital cranial dysinnervation disorders.

    Science.gov (United States)

    Singh, Anupam; Pandey, P K; Agrawal, Ajai; Mittal, Sanjeev Kumar; Rana, Kartik Maheshbhai; Bahuguna, Chirag

    2017-12-01

    The European Neuromuscular Centre (ENMC) derived the term Congenital Cranial Dysinnervation Disorders in 2002 at an international workshop for a group of congenital neuromuscular diseases. CCDDs are congenital, non-progressive ophthalmoplegia with restriction of globe movement in one or more fields of gaze. This group of sporadic and familial strabismus syndromes was initially referred to as the 'congenital fibrosis syndromes' because it was assumed that the primary pathologic process starts in the muscles of eye motility. Over the last few decades, evidence has accumulated to support that the primary pathologic process of these disorders is neuropathic rather than myopathic. This is believed that for normal development of extra ocular muscles and for preservation of muscle fiber anatomy, normal intra-uterine development of the innervation to these muscles is essential. Congenital dysinnervation to these EOMs can lead to abnormal muscle structure depending upon the stage and the extent of such innervational defects. Over last few years new genes responsible for CCDD have been identified, permitting a better understanding of associated phenotypes, which can further lead to better classification of these disorders. Introduction of high-resolution MRI has led to detailed study of cranial nerves courses and muscles supplied by them. Thus, due to better understanding of pathophysiology and genetics of CCDDs, various treatment modalities can be developed to ensure good ocular alignment and better quality of life for patients suffering from the same.

  12. Prevalence of congenital amusia.

    Science.gov (United States)

    Peretz, Isabelle; Vuvan, Dominique T

    2017-05-01

    Congenital amusia (commonly known as tone deafness) is a lifelong musical disorder that affects 4% of the population according to a single estimate based on a single test from 1980. Here we present the first large-based measure of prevalence with a sample of 20 000 participants, which does not rely on self-referral. On the basis of three objective tests and a questionnaire, we show that (a) the prevalence of congenital amusia is only 1.5%, with slightly more females than males, unlike other developmental disorders where males often predominate; (b) self-disclosure is a reliable index of congenital amusia, which suggests that congenital amusia is hereditary, with 46% first-degree relatives similarly affected; (c) the deficit is not attenuated by musical training and (d) it emerges in relative isolation from other cognitive disorder, except for spatial orientation problems. Hence, we suggest that congenital amusia is likely to result from genetic variations that affect musical abilities specifically.

  13. ONO1714, a new inducible nitric oxide synthase inhibitor, attenuates sepsis-induced diaphragmatic dysfunction in hamsters.

    Science.gov (United States)

    Nishina, K; Mikawa, K; Kodama , S; Obara, H

    2001-04-01

    Sepsis causes impairment of diaphragmatic contractility and endurance capacity. Nitric oxide (NO) produced via inducible NO synthase (iNOS) has been implicated in the pathogenesis. Peroxynitrite, a NO-derived powerful oxidant, may be responsible for infection-induced diaphragmatic muscle failure. Therefore, we examined whether ONO1714, a new selective iNOS inhibitor, prevents sepsis-induced diaphragmatic dysfunction. Fifty male Golden-Syrian hamsters were randomly divided into five groups: hamsters that underwent sham laparotomy alone and received saline injection (Group Sham), those that underwent cecal ligation with puncture (CLP) and received saline injection (Group Sepsis), those that underwent sham laparotomy and received injection of ONO1714 0.3 mg/kg (Group Sham-ONO1714high), those that underwent CLP and received ONO1714 0.1 mg/kg (Group Sepsis-ONO1714low), and those that underwent CLP and received ONO1714 0.3 mg/kg (Group Sepsis-ONO1714high). ONO1714 or saline was intraperitoneally injected 10 min before surgery. Diaphragmatic contractility was assessed in vitro using diaphragm muscle strips excised 24 h after operation. Diaphragm fatigability was assessed by time until tension decreased to 50% of the initial value (T50%) during fatigue trials. Twitch, tetanic tensions, and T50% during fatigue trials were reduced in Group Sepsis. Pretreatment with ONO1714 dose-dependently attenuated sepsis-induced diaphragmatic contractile profiles and endurance capacity. CLP increased plasma nitrite/nitrate (NOx; stable NO metabolites), and diaphragm malondialdehyde (MDA; a product of lipid peroxidation), positive immunostaining for nitrotyrosine (peroxynitrite footprint), and iNOS activity. ONO1714 attenuated the increase. This beneficial effect of ONO1714 may be attributable, in part, to inhibition of peroxynitrite-induced lipid peroxidation in the diaphragm. Sepsis impairs diaphragmatic contractility and endurance capacity, which may be involved in acute respiratory

  14. High prevalence rate of left superior vena cava determined by ...

    African Journals Online (AJOL)

    Background: Persistent left superior vena cava (LSVC) is one of the common anomalies of the systemic veins. Its prevalence is 0.10.3% in the general population and is more common with congenital heart disease (CHD). The importance of detecting persistent LSVC prior to cardiac surgery is paramount for systemic veins ...

  15. Huge left atrial appendage aneurysm revealed by chronic hiccups.

    Science.gov (United States)

    Asfalou, Iliyasse; Boumaaz, Meriem; Raissouni, Maha; Sabry, Mohammed; Benyass, Aatif; Zbir, El Mehdi

    2017-10-01

    Left atrial appendage (LAA) aneurysm is an extremely rare anomaly. So far, less than one hundred cases only have been reported worldwide. Revelation modes are dominated by complications such as arrhythmias and thromboembolic events. We herein report a pediatric case of huge congenital LAA aneurysm with an original revelation mode that has never been described before in medical literature.

  16. Congenital syphilis: literature review

    Directory of Open Access Journals (Sweden)

    Eduardo Chaida Sonda

    2013-01-01

    Full Text Available Syphilis is an infectious disease caused by Treponema pallidum and has high rates of vertical transmission, which can reach 100% depending on the maternal disease and stage of pregnancy. The diagnosis of gestational syphilis is simple and its screening is required during the prenatal period. However, this disease still has a high prevalence, affecting two million pregnant women worldwide. The procedures performed in newborns with congenital syphilis represent costs that are three-fold higher than the ones spent with a baby without this infection. The treatment is generally carried out with penicillin and must be extended to sexual partners. Inadequate or lack of treatment of congenital syphilis can result in miscarriage, premature birth, acute complications and other fetal sequelae. KEYWORDS: Congenital syphilis. Treponema pallidum. Vertical transmission.

  17. Congenital cataract screening

    Directory of Open Access Journals (Sweden)

    Zhale Rajavi

    2016-01-01

    Full Text Available Congenital cataract is a leading cause of visual deprivation which can damage the developing visual system of a child; therefore early diagnosis, management and long-term follow-up are essential. It is recommended that all neonates be screened by red reflex examination at birth and suspected cases be referred to ophthalmic centers. Early surgery (1 year is highly recommended. After surgery, amblyopia treatment and periodic follow-up examinations should be started as soon as possible to achieve a satisfactory visual outcome. Practitioners should consider the possibility of posterior capsular opacity, elevated intraocular pressure and amblyopia during follow-up, especially in eyes with microphthalmia and/or associated congenital anomalies. All strabismic children should undergo slit lamp examination prior to strabismus surgery to rule out congenital lens opacities. From a social point of view, equal and fair medical care should be provided to all children regardless of gender.

  18. Congenital optic nerve anomalies.

    Science.gov (United States)

    Martín-Begué, N; Saint-Gerons, M

    2016-12-01

    To update the current knowledge about congenital optic disc anomalies. A comprehensive literature search was performed in the major biomedical databases. Patients with these anomalies usually have poor vision in infancy. Refractive errors are common, and serous retinal detachment may develop in some of these anomalies. It is critically important to clinically differentiate between these congenital optic disc anomalies, as central nervous system malformations are common in some, whereas others may be associated with systemic anomalies. Congenital optic disc anomalies are a heterogeneous group of pathologies with characteristic fundus appearance and systemic associations. We should always try to make a correct diagnosis, in order to ask for specific tests, as well as to provide an adequate follow-up. Copyright © 2016 Sociedad Española de Oftalmología. Publicado por Elsevier España, S.L.U. All rights reserved.

  19. Congenital and neonatal pneumonia.

    Science.gov (United States)

    Nissen, Michael D

    2007-09-01

    The greatest risk of death from pneumonia in childhood is in the neonatal period. It is estimated that pneumonia contributes to between 750000-1.2 million neonatal deaths annually, accounting for 10% of global child mortality. Congenital and neonatal pneumonias are often a difficult disease to identify and treat, with clinical manifestations often being non-specific. Many of the normal lung defences are compromised in the fetus and neonate, leading to an increased susceptibility to infection. The aetiology and epidemiology of congenital and neonatal pneumonias will depend on the clinical setting and population that the baby belongs to, the stage in the perinatal period, the gestational age of the baby and the definition of pneumonia. Diagnosis, treatment and prevention strategies are therefore also dependent on these factors, and will differ depending on the clinical setting. This review summarizes the current knowledge concerning congenital and neonatal pneumonia worldwide and discusses future directions in the prevention of the disease.

  20. Diaphragmatic patch: A useful adjunct in surgical treatment of recurrent catamenial hemothorax

    Directory of Open Access Journals (Sweden)

    J. Nwiloh

    2011-11-01

    Full Text Available Although catamenial hemothorax compared to pneumothorax is a rarer clinical presentation of thoracic endometriosis syndrome (TES, it is more commonly associated with diaphragmatic fenestrations. These openings may serve as entry portals for peritoneal fluid to access into the pleural space thereby perpetuating recurrent pleural effusion even after prior surgical pleurodesis. We report our experience with two patients with recurrent right catamenial hemothorax after previous interventions that were subsequently treated by talc pleurodesis and goretex diaphragmatic patch, and who have had no further recurrence at a mean follow up of 15 months.We therefore recommend that diaphragmatic patch should be considered as an adjunct to talc pleurodesis in patients with recurrent catamenial hemothorax when either multiple diaphragmatic fenestrations are seen at surgery or if there is concomitant bloody peritoneal fluid which could potentially lead to recurrence. The patch by sealing any occult pores and possible future fenestrations appear to decrease recurrent pleural effusion at an intermediate term follow up. Resumo: Embora o hemotórax catamenial comparado com o pneumotórax seja uma apresentação clínica mais rara de síndrome de endometriose torácica (TES, está mais associado a fenestrações diafragmáticas. Estas aberturas podem atuar como portais de entrada para o acesso ao fluido peritoneal na cavidade pleural, perpetuando assim o derrame pleural recorrente mesmo após uma pleurodese cirúrgica prévia. Registamos a nossa experiência em dois pacientes com hemotórax catamenial recorrente do lado direito após outras intervenções, que foram posteriormente tratados com pleurodese com talco e penso diafragmático em gore-tex, e que não apresentaram nenhuma outra recorrência durante um acompanhamento de 15 meses.Recomendamos, então, que o penso diafragmático seja considerado um auxiliar à pleurodese com talco em pacientes com hemot