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Sample records for left congenital diaphragmatic

  1. Left-Sided Congenital Diaphragmatic Hernia with Multiple Congenital Cardiac Anomalies, Hernia Sac, and Microscopic Hepatic Heterotopia: A Case Report

    Directory of Open Access Journals (Sweden)

    Maria Arafah

    2011-01-01

    Full Text Available Congenital diaphragmatic hernia is a common congenital anomaly of uncertain etiology. Its association with multiple congenital anomalies in various organs is well recognized and antenatal radiological evidence of congenital diaphragmatic hernia warrants thorough evaluation to detect other anomalies, some of which can be life threatening. Rarely, heterotopic hepatic tissue is identified in the hernia, a rare pathological finding, exhibiting more than one macroscopic and microscopic characteristics, and always associated with cardiac congenital anomalies. Herein, we report a case of left-sided microscopic heterotopic hepatic tissue in a congenital diaphragmatic hernia in an infant with multiple cardiac congenital anomalies, but with preserved pericardium.

  2. Rare combination of left-sided congenital diaphragmatic hernia and omphalocele.

    Science.gov (United States)

    Chee, Yuet Yee; Wong, Siu Chun Mabel; Wong, Ming Sum Rosanna

    2017-08-07

    We reported a rare case of left-sided posterolateral congenital diaphragmatic hernia (CDH) and omphalocele, which is not associated with chromosomal abnormalities or other syndromes. Omphalocele was detected antenatally (CDH was not detected in antenatal ultrasound). The patient suffered from respiratory failure secondary to severe pulmonary hypertension. As the combination of CDH and omphalocele is rare and with the abdominal content herniating into the omphalocele instead of the thorax, antenatal diagnosis of such condition can be difficult. Unlike other reported cases in the literature, our patient's respiratory condition has been improving with time and is surviving beyond the infancy period. We believe this to be the first such survival case reported in the literature. © BMJ Publishing Group Ltd (unless otherwise stated in the text of the article) 2017. All rights reserved. No commercial use is permitted unless otherwise expressly granted.

  3. Growth Patterns of Fetal Lung Volumes in Healthy Fetuses and Fetuses With Isolated Left-Sided Congenital Diaphragmatic Hernia.

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    Ruano, Rodrigo; Britto, Ingrid Schwach Werneck; Sananes, Nicolas; Lee, Wesley; Sangi-Haghpeykar, Haleh; Deter, Russell L

    2016-06-01

    To evaluate fetal lung growth using 3-dimensional sonography in healthy fetuses and those with congenital diaphragmatic hernia (CDH). Right and total lung volumes were serially evaluated by 3-dimensional sonography in 66 healthy fetuses and 52 fetuses with left-sided CDH between 20 and 37 weeks' menstrual age. Functions fitted to these parameters were compared for 2 groups: (1) healthy versus those with CDH; and (2) fetuses with CHD who survived versus those who died. Fetal right and total lung volumes as well as fetal observed-to-expected right and total lung volume ratios were significantly lower in fetuses with CDH than healthy fetuses (Pvolume ratios did not vary with menstrual age in healthy fetuses or in those with CDH (independent of outcome). Lung volume rates were lower in fetuses with left-sided CDH compared to healthy fetuses, as well as in fetuses with CDH who died compared to those who survived. The observed-to-expected right and total lung volume ratios were relatively constant throughout menstrual age in fetuses with left-sided CDH, suggesting that the origin of their lung growth abnormalities occurred before 20 weeks and did not progress. The observed-to-expected ratios may be useful in predicting the outcome in fetuses with CDH independent of menstrual age. © 2016 by the American Institute of Ultrasound in Medicine.

  4. 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.)

  5. Imaging of congenital diaphragmatic hernias

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    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.)

  6. [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)].

    Science.gov (United States)

    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.

  7. Radiographic observation of congenital diaphragmatic hernia

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    Rhee, Chung Sik [Ewha Women' s University College of Medicine, Seoul (Korea, Republic of)

    1973-12-15

    Five cases of congenital diaphragmatic hernia. Case 1: A female infant, birth weight 2.25 kg, Apgar score 10, normal delivery at 11:33 P.M. on Feb.8, 1972. Lt side congenital diaphragmatic hernia. Case 2: A female infant, birth weight 1.48 kg, Apgar score 5, normal delivery at 11:20 A.M. on Oct.14, 1972. Lt. side congenital diaphragmatic hernia. This infant was twin. this infant's mother was toxemia. Case 3; A 33 years old women was admitted to the our hospital because of Lt.hip joint pain without other symptoms. Date of admission: Jan. 8, 1973. Rt side congenital diaphragmentic hernia. Case 4: A 4 month infant male was admitted to the our hospital because of vomiting, dyspnea and abdominal pain. He had cyanosis intermittently after one month ago. This infant was normal delivered. The family history was not contributory. Date of admission: This infant was normal delivered. The family history was not contributory. Date of admission: Aug. 30, 1971. Rt side congenital diaphragmatic hernia. Case 5: A 13 years old girl was admitted to our hospital because of general weakness without other symptoms. This patient was normal delivered. The family history was not contributory. Date of admission: March. 15, 1973. Lt. side congenital diaphragmentic hernia.

  8. Radiographic observation of congenital diaphragmatic hernia

    International Nuclear Information System (INIS)

    Rhee, Chung Sik

    1973-01-01

    Five cases of congenital diaphragmatic hernia. Case 1: A female infant, birth weight 2.25 kg, Apgar score 10, normal delivery at 11:33 P.M. on Feb.8, 1972. Lt side congenital diaphragmatic hernia. Case 2: A female infant, birth weight 1.48 kg, Apgar score 5, normal delivery at 11:20 A.M. on Oct.14, 1972. Lt. side congenital diaphragmatic hernia. This infant was twin. this infant's mother was toxemia. Case 3; A 33 years old women was admitted to the our hospital because of Lt.hip joint pain without other symptoms. Date of admission: Jan. 8, 1973. Rt side congenital diaphragmentic hernia. Case 4: A 4 month infant male was admitted to the our hospital because of vomiting, dyspnea and abdominal pain. He had cyanosis intermittently after one month ago. This infant was normal delivered. The family history was not contributory. Date of admission: This infant was normal delivered. The family history was not contributory. Date of admission: Aug. 30, 1971. Rt side congenital diaphragmatic hernia. Case 5: A 13 years old girl was admitted to our hospital because of general weakness without other symptoms. This patient was normal delivered. The family history was not contributory. Date of admission: March. 15, 1973. Lt. side congenital diaphragmentic hernia

  9. Lung volumes, ventricular function and pulmonary arterial flow in children operated on for left-sided congenital diaphragmatic hernia: long-term results

    Energy Technology Data Exchange (ETDEWEB)

    Abolmaali, Nasreddin; Koch, Arne [Dresden University of Technology, OncoRay - Molecular and Biological Imaging, Medical Faculty Carl Gustav Carus, Dresden (Germany); Goetzelt, Knut; Vogelberg, Christian [University Clinics Carl Gustav Carus, Dresden University of Technology, Clinic and Policlinic for Pediatrics - Pediatric Pulmonology, Dresden (Germany); Hahn, Gabriele [University Clinics Carl Gustav Carus, Dresden University of Technology, Institute and Policlinic for Radiology - Pediatric Radiology, Dresden (Germany); Fitze, Guido [University Clinics Carl Gustav Carus, Dresden University of Technology, Clinic and Policlinic for Pediatric Surgery, Dresden (Germany)

    2010-07-15

    To compare MRI-based functional pulmonary and cardiac measurements in the long-term follow-up of children operated on for left-sided congenital diaphragmatic hernia (CDH) with age- and body size-matched healthy controls. Twelve children who received immediate postnatal surgery for closure of isolated left-sided CDH were included and received basic medical examinations, pulmonary function testing and echocardiography. MRI included measurement of lung volume, ventricular function assessment and velocity-encoded imaging of the pulmonary arteries and was compared with the data for 12 healthy children matched for age and body size. While patients' clinical test results were not suspicious, comparison between the MRI data for patients and those for healthy controls revealed significant differences. In patients, the volumes of the left lungs were increased and the tidal volume was larger on the right side. While the stroke volumes of both ventricles were reduced, heart rate and ejection fraction were increased. Flow, acceleration time and cross-sectional area of the left pulmonary artery were reduced. Functional MRI detected pulmonary and cardiac findings in the late follow-up of CDH children which may be missed by standard clinical methods and might be relevant for decisions regarding late outcome and treatment. (orig.)

  10. Lung volumes, ventricular function and pulmonary arterial flow in children operated on for left-sided congenital diaphragmatic hernia: long-term results.

    Science.gov (United States)

    Abolmaali, Nasreddin; Koch, Arne; Götzelt, Knut; Hahn, Gabriele; Fitze, Guido; Vogelberg, Christian

    2010-07-01

    To compare MRI-based functional pulmonary and cardiac measurements in the long-term follow-up of children operated on for left-sided congenital diaphragmatic hernia (CDH) with age- and body size-matched healthy controls. Twelve children who received immediate postnatal surgery for closure of isolated left-sided CDH were included and received basic medical examinations, pulmonary function testing and echocardiography. MRI included measurement of lung volume, ventricular function assessment and velocity-encoded imaging of the pulmonary arteries and was compared with the data for 12 healthy children matched for age and body size. While patients' clinical test results were not suspicious, comparison between the MRI data for patients and those for healthy controls revealed significant differences. In patients, the volumes of the left lungs were increased and the tidal volume was larger on the right side. While the stroke volumes of both ventricles were reduced, heart rate and ejection fraction were increased. Flow, acceleration time and cross-sectional area of the left pulmonary artery were reduced. Functional MRI detected pulmonary and cardiac findings in the late follow-up of CDH children which may be missed by standard clinical methods and might be relevant for decisions regarding late outcome and treatment.

  11. Lung volumes, ventricular function and pulmonary arterial flow in children operated on for left-sided congenital diaphragmatic hernia: long-term results

    International Nuclear Information System (INIS)

    Abolmaali, Nasreddin; Koch, Arne; Goetzelt, Knut; Vogelberg, Christian; Hahn, Gabriele; Fitze, Guido

    2010-01-01

    To compare MRI-based functional pulmonary and cardiac measurements in the long-term follow-up of children operated on for left-sided congenital diaphragmatic hernia (CDH) with age- and body size-matched healthy controls. Twelve children who received immediate postnatal surgery for closure of isolated left-sided CDH were included and received basic medical examinations, pulmonary function testing and echocardiography. MRI included measurement of lung volume, ventricular function assessment and velocity-encoded imaging of the pulmonary arteries and was compared with the data for 12 healthy children matched for age and body size. While patients' clinical test results were not suspicious, comparison between the MRI data for patients and those for healthy controls revealed significant differences. In patients, the volumes of the left lungs were increased and the tidal volume was larger on the right side. While the stroke volumes of both ventricles were reduced, heart rate and ejection fraction were increased. Flow, acceleration time and cross-sectional area of the left pulmonary artery were reduced. Functional MRI detected pulmonary and cardiac findings in the late follow-up of CDH children which may be missed by standard clinical methods and might be relevant for decisions regarding late outcome and treatment. (orig.)

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

    Science.gov (United States)

    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.

  13. 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.

  14. Genetics Home Reference: congenital diaphragmatic hernia

    Science.gov (United States)

    ... of cells in the embryo. Environmental factors that influence development before birth may also increase the risk of ... occur? How can gene mutations affect health and development? More about Mutations and ... is only one affected individual in a family. When congenital diaphragmatic hernia occurs as a feature ...

  15. Epidemiology of congenital diaphragmatic hernia in Europe

    DEFF Research Database (Denmark)

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

    2015-01-01

    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...

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

    Directory of Open Access Journals (Sweden)

    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.

  17. 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.

  18. 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)

  19. Congenital posterolateral diaphragmatic hernia : pathophysiological studies and clinical picture

    NARCIS (Netherlands)

    A.P. Bos (Albert)

    1993-01-01

    textabstractCongenital diaphragmatic hernias are classified according to the location of the defect: posterolateral hernia with or without a sac (Bochdalek-type), parasternal hernia through the foramen of Morgagni, central hernia, and diaphragmatic eventration. The so-called hiatal hernia has a

  20. 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.

  1. Congenital diaphragmatic hernia candidate genes derived from embryonic transcriptomes

    DEFF Research Database (Denmark)

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

    2012-01-01

    Congenital diaphragmatic hernia (CDH) is a common (1 in 3,000 live births) major congenital malformation that results in significant morbidity and mortality. The discovery of CDH loci using standard genetic approaches has been hindered by its genetic heterogeneity. We hypothesized that gene...

  2. [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.

  3. A late presenting congenital diaphragmatic hernia misdiagnosed as spontaneous pneumothorax

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    Chitra Sanjeev Juwarkar

    2010-01-01

    Full Text Available Congenital diaphragmatic hernia (CDH is described as (1 failure of diaphragmatic closure at development, (2 presence of herniated abdominal contents into chest and (3 pulmonary hypoplasia. Usually, pleural space is drained urgently when there is respiratory distress and radiological appearance of mediastinal shift. We present a case of a 5-month-old baby, diagnosed as tension pneumothorax and treated with chest drain insertion. CDH was the intraoperative diagnosis.

  4. Congenital diaphragmatic hernia: a modern day approach.

    Science.gov (United States)

    Waag, Karl-Ludwig; Loff, Steffan; Zahn, Katrin; Ali, Mansour; Hien, Steffen; Kratz, Markus; Neff, Wolfgang; Schaffelder, Regine; Schaible, Thomas

    2008-11-01

    Centralization of all complicated congenital diaphragmatic hernias (CDH) was organized in Germany from 1998, collecting 325 consecutive patients with striking increasing survival rates. This series report 244 patients from 2002 to 2007. Today, large defects are detected early in pregnancy by ultrasound and magnetic resonance imaging (MRI). In extracorporeal membrane oxygenation (ECMO) patients, prenatal lung head ratio (LHR) was 1.2 (median) at the 34th week of gestation or less than 25 ml lung tissue in MRI. This means that all patients below LHR of 1.4 should be transferred prenatally in a tertiary center. High risk group for survival was defined as LHR below 0.9, ie, 10 ml in MRI planimetry. Inborn patients show better results than outborns. In algorithm therapy, gentle ventilation plays an important role in preventing damage to the lung tissue and avoiding long term ventilation. When PaCO(2) was more than 75 mmHg, ventilation was changed to high frequency oscillatory ventilation (HFOV). Indication for ECMO was seen in preductal PaO(2) less than 50 mmHg over 2-4 h or less than 40 mmHg over 2 h. ECMO related risks included intracerebral bleeding (9%), intrapulmonary bleeding (14%), and convulsions (16%). Surgically, a longitudinal midline incision for exposure of the defect, the duodenal kinking, and probably for abdominal patching was perfect. A cone formed goretex patch provided more abdominal space and reduced abundant intrathoracical cavity. No drain was used. Postoperative complications were described. Overall survival in 244 consecutive patients was 86.5% for all patients born alive. All those who needed ECMO survived in 71%, underlining ECMO as a treatment of last choice. Follow-up for quality of life after CDH is described.

  5. 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.

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    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.

  6. Congenital diaphragmatic hernia with gastric volvulus

    OpenAIRE

    Jain, Prashant; Sanghavi, Beejal; Sanghani, Hemanshi; Parelkar, S. V.; Borwankar, S. S.

    2007-01-01

    Gastric volvulus is a surgical emergency presenting in various forms. Association with diaphragmatic defect is well known. Here we describe three cases of gastric volvulus associated with diaphragmatic defect having varied presentations and their management. A rare case of gastric volvulus with complete gangrene of the stomach is also reported. Three types of gastric volvulus have been described depending on the rotation axis: organoaxial, mesentericoaxial and combination of both types. Opera...

  7. 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…

  8. 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.

  9. Recurrent Congenital Diaphragmatic Hernia in Ehlers-Danlos Syndrome

    International Nuclear Information System (INIS)

    Lin, I.C.; Ko, S.F.; Shieh, C.S.; Huang, C.F.; Chien, S.J.; Liang, C.D.

    2006-01-01

    Ehlers-Danlos syndrome (EDS) includes a group of connective tissue disorders with abnormal collagen metabolism and a diverse clinical spectrum. We report two siblings with EDS who both presented with congenital diaphragmatic hernia (CDH). The elder sister suffered from recurrent diaphragmatic hernia twice and EDS was overlooked initially. Echocardiography as well as contrast-enhanced magnetic resonance angiography (MRA) showed dilatation of the pulmonary artery, and marked elongation and tortuosity of the aorta and its branches. A diagnosis of EDS was eventually established when these findings were coupled with the clinical features of hyperelastic skin. Her younger brother also had similar features. This report emphasizes that EDS may present as CDH in a small child which could easily be overlooked. Without appropriate surgery, diaphragmatic hernia might occur. Echocardiographic screening is recommended in patients with CDH. Contrast-enhanced MRA can be helpful in delineation of abnormally tortuous aortic great vessels that are an important clue to the early diagnosis of EDS

  10. Thoracoscopic approach in management of congenital diaphragmatic hernia.

    Science.gov (United States)

    Liem, Nguyen Thanh

    2013-10-01

    Thoracoscopic repair is feasible and safe for congenital diaphragmatic hernia (CDH). The operation can be performed with three trocars using carbon dioxide insufflations at a pressure of 4-6 mmHG. From January 2001 to July 2012, we performed thoracoscopic repair for 311 children with CDH including 152 newborns and 159 infants and toddlers. Mean operative time was 75 ± 27 min. HFOV was used in 24 patients. Direct closure of two rims of diaphragmatic hernia was carried out in 175 patients. Closure of two rims of diaphragmatic hernia with the thoracic wall was performed in 136 patients. Prosthetic patches were required in 54 patients. Conversion to open surgery was required in 38 patients (12.2%). There were no intraoperative deaths. 38 patients died postoperatively (13.5%).

  11. Re-evaluation of lung to thorax transverse area ratio immediately before birth in predicting postnatal short-term outcomes of fetuses with isolated left-sided congenital diaphragmatic hernia: A single center analysis.

    Science.gov (United States)

    Kido, Saki; Hidaka, Nobuhiro; Sato, Yuka; Fujita, Yasuyuki; Miyoshi, Kina; Nagata, Kouji; Taguchi, Tomoaki; Kato, Kiyoko

    2018-05-01

    We aimed to investigate whether the lung-to-thorax transverse area ratio (LTR) immediately before birth is of diagnostic value for the prediction of postnatal short-term outcomes in cases of isolated left-sided congenital diaphragmatic hernia (CDH). We retrospectively reviewed the cases of fetal isolated left-sided CDH managed at our institution between April 2008 and July 2016. We divided the patients into two groups based on LTR immediately before birth, using a cut-off value of 0.08. We compared the proportions of subjects within the two groups who survived until discharge using Fisher's exact test. Further, using Spearman's rank correlation, we assessed whether LTR was correlated with length of stay, duration of mechanical ventilation, and supplemental oxygen. Twenty-nine subjects were included (five with LTR < 0.08, and 24 with LTR ≥ 0.08). The proportion of subjects surviving until discharge was 40% (2/5) for patients with LTR < 0.08, as compared with 96% (23/24) for those with LTR ≥ 0.08. LTR measured immediately before birth was negatively correlated with the postnatal length of stay (Spearman's rank correlation coefficient, rs = -0.486), and the duration of supplemental oxygen (rs = -0.537). Further, the duration of mechanical ventilation was longer in patients with a lower LTR value. LTR immediately before birth is useful for the prediction of postnatal short-term outcomes in fetuses with isolated left-sided CDH. In particular, patients with prenatal LTR value less than 0.08 are at increased risk of postnatal death. © 2017 Japanese Teratology Society.

  12. 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

  13. 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 ...

  14. 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

  15. 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.

  16. [Postnatal diagnosis of gastric volvulus revealing congenital diaphragmatic hernia].

    Science.gov (United States)

    Aprahamian, A; Nouyrigat, V; Grévent, D; Hervieux, E; Chéron, G

    2017-05-01

    Postnatally diagnosed congenital diaphragmatic hernias (CDH) are rare and have a better prognosis than those diagnosed prenatally. Postnatal symptoms can be respiratory, digestive, or mixed. Gastric volvulus can reveal CDH. Symptoms are pain, abdominal distension, and/or vomiting. Upper gastrointestinal barium X-ray radiography provides the diagnosis. Prognosis is related to early surgical management in complicated forms with intestinal occlusion or sub-occlusion. We report on an infant who presented with vomiting, which revealed gastric volvulus associated with a CDH. Progression was favorable after surgical treatment. Copyright © 2017 Elsevier Masson SAS. All rights reserved.

  17. Malformations associated with congenital diaphragmatic hernia: Impact on survival.

    Science.gov (United States)

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

    2015-11-01

    Congenital diaphragmatic hernia (CDH) is associated with high mortality. Survival is influenced by the extent of pulmonary hypoplasia and additional congenital defects. The purpose of this study was to assess the association of congenital anomalies and admission capillary carbon dioxide levels (PcCO2), as a measure of extent of pulmonary hypoplasia, on survival in neonates with CDH. This is a retrospective review of neonates with CDH admitted to a tertiary neonatal intensive care unit between 1990 and 2014. Logistic regression was used to assess whether hospital survival was associated with admission PcCO2 or associated anomalies (isolated CDH, CDH with cardiovascular anomalies, and CDH with noncardiac anomalies). The probabilities of survival (POS) score, based on birth weight and 5-min Apgar as defined by the Congenital Diaphragmatic Hernia Study Group were included as a covariate. Of 97 patients, 55 had additional malformations (cardiovascular n=12, noncardiac anomalies n=43). POS was lower in CDH with other anomalies compared to isolated CDH. Survival rate was 61.9%, 53.5% and 41.7% in isolated CDH, CDH with noncardiac anomalies and CDH with cardiovascular anomalies, respectively. After adjusting for POS score the likelihood of survival in CDH groups with additional anomalies was similar to isolated CDH (OR 0.95, 95% CI 0.22-4.15, and 1.10, 0.39-3.08, for CDH with and without cardiovascular anomalies, respectively). After adjusting for POS score, lower PcCO2 levels (OR=1.25 per 5mmHg decrease, P=0.003) were associated with better survival. Neonates with CDH have a high prevalence of congenital malformations. However, after adjusting for POS score the presence of additional anomalies was not associated with survival. The POS score and admission PcCO2 were important prognosticating factors for survival. Copyright © 2015 Elsevier Inc. All rights reserved.

  18. Extracorporeal Membrane Oxygenation in Premature Infants With Congenital Diaphragmatic Hernia.

    Science.gov (United States)

    Cuevas Guamán, Milenka; Akinkuotu, Adesola C; Cruz, Stephanie M; Griffiths, Pamela A; Welty, Stephen E; Lee, Timothy C; Olutoye, Oluyinka O

    2017-11-14

    Prematurity and low birth weight have been exclusion criteria for extracorporeal membrane oxygenation (ECMO); however, these criteria are not evidence based. With advances in anticoagulation, improved technology, and surgical expertise, it is difficult to deny a potential therapy based on these criteria alone. We report the outcome of three neonates who were ineligible based on traditional criteria but were offered ECMO as a life-saving measure. We highlight the interdisciplinary nature of modern decision-making. All three neonates had severe congenital diaphragmatic hernia diagnosed prenatally, had normal fetal karyotypes, were born prematurely, and weighed less than 2 kg. All three neonates underwent cervical venoarterial cannulation, stabilization on ECMO, and repair of their congenital diaphragmatic hernia early in their ECMO courses. All three infants had long courses of respiratory support attributable to lung hypoplasia, but there were no short- or long-term complications attributable to ECMO support directly. All three are alive at 2 years of age and were making progress developmentally. In conclusion, with interdisciplinary collaboration and clinical guidelines uniformly implemented, low birth weight infants may benefit from ECMO and should not be denied the therapy arbitrarily based on gestational age or size alone. Further research is essential to determine appropriate patient selection in premature infants.

  19. 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.

  20. 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.

  1. 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.

  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. 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.

  4. 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.

  5. CONGENITAL DIAPHRAGMATIC HERNIA IN A TWO-DAY-OLD NEONATE: ANAESTHETIC MANAGEMENT AND CHALLENGES

    Directory of Open Access Journals (Sweden)

    Tridip Jyoti

    2016-04-01

    Full Text Available INTRODUCTION Congenital diaphragmatic hernia in a neonate is a challenging task to any anaesthesiologist. CDH occurs due to an early developmental defect that results in the extrusion of intra-abdominal organs (i.e. stomach, small intestines, spleen, liver into the thoracic cavity. In 85% of the cases it is left sided. This leads to lung hypoplasia, pulmonary hypertension, and pulmonary arteriolar dysregulation/reactivity. Historically, CDH was considered to be a surgical emergency and aggressive hyperventilatory strategies with high peak inspiratory pressures were employed to improve survival. But recent multicentre studies have shown the beneficial effect of conservative low volume ventilation with low inflation pressures and permissive hypercapnia. We present to you the successful management of a two day old neonate with this ventilation strategy.

  6. 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.

  7. 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.

  8. Acute gastrointestinal compromise in neonates with congenital diaphragmatic hernia prior to repair.

    Science.gov (United States)

    Fox, Catherine; Stewart, Michael; King, Sebastian K; Patel, Neil

    2016-12-01

    Congenital diaphragmatic hernia (CDH) affects 1 in 3000 live births. Modern management strategies include delayed repair of the diaphragm to permit pre-operative optimization of cardiorespiratory status. We describe a cohort of neonates in whom early emergency operative intervention was required for potentially fatal intestinal compromise. A retrospective review was performed of all neonatal CDH patients managed at a tertiary center in an 8-year period (2005-2012). A total of 126 CDH patients were managed during the 8-year period. Five neonates (male - 1; gestation 37+4-39+7; birth weight 2.9-3.7kg; left CDH - 5) required emergency operative intervention for presumed gastrointestinal compromise. All five neonates demonstrated systemic hypotension despite inotropic support, raised serum lactate (>2mmol/L), and abnormal radiographic findings. Operative intervention occurred within 3days of birth (1-3days). Findings included gastric volvulus, jejunal volvulus, and perforated caecum. All patients underwent primary diaphragmatic repair without a patch. Temporary ileostomy was required in 1 patient. All patients remain alive. Gastrointestinal compromise is a rare, but potentially catastrophic, complication of CDH. Emergency operative intervention may be required in a select cohort of patients. Early deterioration following birth should alert clinicians to the possibility of significant intestinal pathology. Level IV case series with no comparison group. Copyright © 2016 Elsevier Inc. All rights reserved.

  9. 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.

  10. Histogram based analysis of lung perfusion of children after congenital diaphragmatic hernia repair.

    Science.gov (United States)

    Kassner, Nora; Weis, Meike; Zahn, Katrin; Schaible, Thomas; Schoenberg, Stefan O; Schad, Lothar R; Zöllner, Frank G

    2018-05-01

    To investigate a histogram based approach to characterize the distribution of perfusion in the whole left and right lung by descriptive statistics and to show how histograms could be used to visually explore perfusion defects in two year old children after Congenital Diaphragmatic Hernia (CDH) repair. 28 children (age of 24.2±1.7months; all left sided hernia; 9 after extracorporeal membrane oxygenation therapy) underwent quantitative DCE-MRI of the lung. Segmentations of left and right lung were manually drawn to mask the calculated pulmonary blood flow maps and then to derive histograms for each lung side. Individual and group wise analysis of histograms of left and right lung was performed. Ipsilateral and contralateral lung show significant difference in shape and descriptive statistics derived from the histogram (Wilcoxon signed-rank test, phistogram derived parameters. Histogram analysis can be a valuable tool to characterize and visualize whole lung perfusion of children after CDH repair. It allows for several possibilities to analyze the data, either describing the perfusion differences between the right and left lung but also to explore and visualize localized perfusion patterns in the 3D lung volume. Subgroup analysis will be possible given sufficient sample sizes. Copyright © 2017 Elsevier Inc. All rights reserved.

  11. Prenatal imaging of a fetus with the rare combination of a right congenital diaphragmatic hernia and a giant omphalocele.

    Science.gov (United States)

    Nonaka, Ayasa; Hidaka, Nobuhiro; Kido, Saki; Fukushima, Kotaro; Kato, Kiyoko

    2014-11-01

    A co-existing right congenital diaphragmatic hernia and omphalocele is rare. We present images of a fetus diagnosed with this rare combination of anomalies. Early neonatal death occurred immediately after full-term birth due to severe respiratory insufficiency. In this case, disturbance of chest wall development due to the omphalocele rather than the diaphragmatic hernia was considered as the main cause of lung hypoplasia. Our experience suggests that caution should be exercised for severe respiratory insufficiency in a neonate with an omphalocele and diaphragmatic hernia, even in the absence of an intra-thoracic liver, one of the indicators of poor outcome for congenital diaphragmatic hernia. © 2014 Japanese Teratology Society.

  12. Sphingolipids in Congenital Diaphragmatic Hernia; Results from an International Multicenter Study.

    Directory of Open Access Journals (Sweden)

    Kitty G Snoek

    Full Text Available Congenital diaphragmatic hernia is a severe congenital anomaly with significant mortality and morbidity, for instance chronic lung disease. Sphingolipids have shown to be involved in lung injury, but their role in the pathophysiology of chronic lung disease has not been explored. We hypothesized that sphingolipid profiles in tracheal aspirates could play a role in predicting the mortality/ development of chronic lung disease in congenital diaphragmatic hernia patients. Furthermore, we hypothesized that sphingolipid profiles differ between ventilation modes; conventional mechanical ventilation versus high-frequency oscillation.Sphingolipid levels in tracheal aspirates were determined at days 1, 3, 7 and 14 in 72 neonates with congenital diaphragmatic hernia, born after > 34 weeks gestation at four high-volume congenital diaphragmatic hernia centers. Data were collected within a multicenter trial of initial ventilation strategy (NTR 1310.36 patients (50.0% died or developed chronic lung disease, 34 patients (47.2% by stratification were initially ventilated by conventional mechanical ventilation and 38 patients (52.8% by high-frequency oscillation. Multivariable logistic regression analysis with correction for side of the defect, liver position and observed-to-expected lung-to-head ratio, showed that none of the changes in sphingolipid levels were significantly associated with mortality /development of chronic lung disease. At day 14, long-chain ceramides 18:1 and 24:0 were significantly elevated in patients initially ventilated by conventional mechanical ventilation compared to high-frequency oscillation.We could not detect significant differences in temporal sphingolipid levels in congenital diaphragmatic hernia infants with mortality/development of chronic lung disease versus survivors without development of CLD. Elevated levels of ceramides 18:1 and 24:0 in the conventional mechanical ventilation group when compared to high

  13. 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

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

    NARCIS (Netherlands)

    Peetsold, M.G.; Kneepkens, C.M.F.; Heij, H.A.; IJsselstijn, H.; Tibboel, D.; Gemke, R.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 lateGERDare inconclusive. The aim of this study was to assess the incidence of early (<2 years) and late GERD

  15. 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...

  16. Radionuclide scintigraphy in detection of gastroesophageal reflux in survivors of congenital diaphragmatic hernia

    International Nuclear Information System (INIS)

    Thomas, E.J.; Bharathi Dasan, J.; Patel, C.D.; Bal, C.S.; Malhotra, A.; Kumar, R.; Mitra, D.K.; Agarwala, S.; Padhy, A.K.

    2003-01-01

    Gastro-esophageal Reflux is a common cause of long-term morbidity in survivors of congenital diaphragmatic hernia. The present retrospective analysis was undertaken to find out the incidence of GER in survivors of congenital diaphragmatic hernia (CDH). A total of 26 survivors of congenital diaphragmatic hernia with a mean age of 19 months were studied. Of these, only 7 had clinical symptoms suggestive of GER such as recurrent respiratory tract infection, vomiting, regurgitation, and epigastric pain. The remaining 19 were asymptomatic and had radionuclide scintigraphy for detection of GER as a part of routine follow-up. All the 26 underwent radionuclide scintigraphy with 100-200 μCi (3.7 -7.4MBq) of Tc99m-Sulphur Colloid. GER was detected in 11 out of 26 patients (4 out of 7 symptomatic patients and 7 out of 19 asymptomatic patients). We concluded that there is high incidence of GER in survivors of congenital diaphragmatic hernia and these patients should be followed up for GER regularly. Scintiscanning being a simple, noninvasive test, may be used for initial evaluation and follow-up of survivors of CDH for GER. (author)

  17. Delayed presentation of congenital diaphragmatic hernia manifesting as combined-type acute gastric volvulus: a case report and review of the literature.

    Science.gov (United States)

    Anaya-Ayala, Javier E; Naik-Mathuria, Bindi; Olutoye, Oluyinka O

    2008-03-01

    Acute gastric volvulus associated with congenital diaphragmatic hernia is an unusual surgical emergency. We describe a case of an 11-year-old girl who presented with a 4-day history of abdominal pain, nonproductive retching, cough, and shortness of breath. A chest radiograph revealed a large air-fluid level in left hemithorax and the presence of intestinal loops with marked mediastinal deviation. Nasogastric decompression was unsuccessful. Via a thoracoscopic approach, the large fluid-filled stomach was percutaneously decompressed but could not be reduced. Through a left subcostal incision, a left-sided diaphragmatic defect about 4 x 5 cm was encountered. A large portion of small intestines, ascending and transverse colon, strangulated but viable stomach, and a large spleen herniated through the defect. The contents were reduced, revealing a combined gastric volvulus. Once the diaphragmatic defect was repaired primarily, there was insufficient space in the abdominal cavity to contain all the viscera reduced form the chest. Therefore, we placed an AlloDerm patch on the fascia and closed with a wound V.A.C (Kinetic Concepts Inc, San Antonio, TX). Two weeks later, the wound was definitively closed; she recovered uneventfully and was discharged home 3 days later. To our knowledge, only 26 previous cases of acute gastric volvulus complicating a congenital diaphragmatic hernia in children have been reported in the literature. Our patient represents the 27th case and the first combined type acute gastric volvulus case.

  18. Visceral subpleural hematoma of the left diaphragmatic surface following left upper division segmentectomy

    Directory of Open Access Journals (Sweden)

    Yasushi Mizukami

    2017-10-01

    Full Text Available Abstract Background Pulmonary visceral subpleural hematoma is rare. We report visceral subpleural hematoma of the left diaphragmatic surface following left upper division segmentectomy. This very rare case was difficult to distinguish from thoracic abscess. Case presentation A 68-year-old man with hypertension had undergone video-assisted thoracoscopic left upper division segmentectomy for suspected lung carcinoma. Deep vein thrombosis of the lower leg was identified and edoxaban, a so-called novel oral anticoagulant, was started on postoperative day 7. The chest drainage tube was removed on postoperative day 12 because of persistent air leakage, but fever appeared the same day. Computed tomography revealed a cavity with mixed air and fluid, so antibiotics were started on suspicion of abscess. Computed tomography-guided drainage was attempted, but proved unsuccessful. Fever continued and surgical investigation was therefore performed. Visceral subpleural hematoma was identified under the diaphragmatic surface of the left basal lung. We excised the pleura, then performed drainage and applied running sutures. The parenchyma and visceral pleura were covered with polyglycolic acid sheet and fibrin glue. Edoxaban was restarted on postoperative day 12 of video-assisted thoracoscopic surgery and no recurrence of hematoma has been revealed. Conclusions Visceral subpleural hematoma after thoracic surgery is extremely rare. Furthermore, correct diagnosis was difficult and surgery offered a good diagnostic and therapeutic procedure.

  19. 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

  20. 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

  1. A Case of Fatal Pulmonary Hypoplasia with Congenital Diaphragmatic Hernia, Thoracic Myelomeningocele, and Thoracic Dysplasia.

    Science.gov (United States)

    Ito, Ai; Fujinaga, Hideshi; Matsui, Sachiko; Tago, Kumiko; Iwasaki, Yuka; Fujino, Shuhei; Nagasawa, Junko; Amari, Shoichiro; Kaneshige, Masao; Wada, Yuka; Takahashi, Shigehiro; Tsukamoto, Keiko; Miyazaki, Osamu; Yoshioka, Takako; Ishiguro, Akira; Ito, Yushi

    2017-10-01

    Background  Congenital diaphragmatic hernia (CDH) is fatal in severe cases of pulmonary hypoplasia. We experienced a fatal case of pulmonary hypoplasia due to CDH, thoracic myelomeningocele (MMC), and thoracic dysplasia. This constellation of anomalies has not been previously reported. Case Report  A male infant with a prenatal diagnosis of thoracic MMC with severe hydrocephalus and scoliosis was born at 36 weeks of gestation. CDH was found after birth and the patient died of respiratory failure due to pulmonary hypoplasia and persistent pulmonary hypertension of the newborn at 30 hours of age despite neonatal intensive care. An autopsy revealed a left CDH without herniation of the liver or stomach into the thoracic cavity, severe hydrocephalus, Chiari malformation type II, MMC with spina bifida from Th4 to Th12, hemivertebrae, fused ribs, deformities of the thoracic cage and legs, short trunk, and agenesis of the left kidney. Conclusion  We speculate that two factors may be associated with the severe pulmonary hypoplasia: decreased thoracic space due to the herniation of visceral organs caused by CDH and thoracic dysplasia due to skeletal deformity and severe scoliosis.

  2. 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)

  3. 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

  4. The value of fetal ultrasonography and magnetic resonance imaging in the assessment of diaphragmatic hernias

    International Nuclear Information System (INIS)

    Amim, Bruno; Guerra, Fernando; Marchiori, Edson; Gasparetto, Emerson Leandro

    2008-01-01

    To demonstrate the relevance of ultrasonography and magnetic resonance imaging findings in the prenatal characterization and prognostic evaluation in cases of congenital diaphragmatic hernia. Materials And Methods: Fourteen pregnant women (mean gestational age = 28.7 weeks) who had undergone ultrasonography for suspicion of fetuses with congenital 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. (author)

  5. 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.

  6. 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.

  7. 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

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

    International Nuclear Information System (INIS)

    Muzzafar, Sofia; Swischuk, Leonard E.; Jadhav, Siddharth P.

    2012-01-01

    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.)

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

    Energy Technology Data Exchange (ETDEWEB)

    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.)

  10. Abnormal platelet-derived growth factor signaling accounting for lung hypoplasia in experimental congenital diaphragmatic hernia.

    Science.gov (United States)

    Dingemann, Jens; Doi, Takashi; Ruttenstock, Elke; Puri, Prem

    2010-10-01

    The pathogenesis of pulmonary hypoplasia in congenital diaphragmatic hernia (CDH) is not fully understood. Platelet-derived growth factor A (PDGFA) and platelet-derived growth factor receptor α (PDGFRα) play a crucial role in lung development. It has been reported that PDGF induces H(2)O(2)-production and that oxidative stress may be an important mechanism for the impaired lung development in the nitrofen rat model. We hypothesized that pulmonary expression of PDGFA and PDGFRα is altered in the nitrofen induced CDH model. Pregnant rats received 100 mg nitrofen or vehicle on gestational day 9 (D9) and were sacrificed on D15, D18 or D21. RNA was extracted from fetal left lungs and mRNA levels of PDGFA and PDGFRα were determined using real-time polymerase chain reaction. Immunohistochemistry for protein expression of PDGFA and PDGFRα was performed. Pulmonary H(2)O(2) was measured colorimetrically. mRNA levels of PDGFRα at D15 (4.50 ± 0.87) and PDGFA at D18 (2.90 ± 1.38) were increased in the nitrofen group (P stress during lung development. Copyright © 2010 Elsevier Inc. All rights reserved.

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

    Directory of Open Access Journals (Sweden)

    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.

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

    Science.gov (United States)

    Muzzafar, Sofia; Swischuk, Leonard E; Jadhav, Siddharth P

    2012-03-01

    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.

  13. Prenatally diagnosed 17q12 microdeletion syndrome with a novel association with congenital diaphragmatic hernia.

    Science.gov (United States)

    Hendrix, Nancy W; Clemens, Michele; Canavan, Timothy P; Surti, Urvashi; Rajkovic, Aleksandar

    2012-01-01

    We describe the first reported case of a prenatally diagnosed and recently described 17q12 microdeletion syndrome. The fetus was noted to have a congenital diaphragmatic hernia (CDH), echogenic kidneys and cystic left lung on prenatal ultrasound. The patient underwent amniocentesis which resulted in a normal fluorescence in-situ hybridization and karyotype. An oligonucleotide microarray was then performed which demonstrated a 1.4-Mb deletion within the 17q12 region. The deletion caused haploinsufficiency for 17 genes, including AATF, ACACA, DDX52, DUSP14, GGNBP2, HNF-1B, LHX1, PIGW, SYNRG, TADA2A, and ZNHIT3. The deleted region on 17q12 is similar in size and gene content to previously reported 17q12 microdeletion syndromes, which have a minimal critical region of 1.52 Mb. The newly described 17q12 microdeletion syndrome has been associated with MODY5 (maturity-onset of diabetes of the young type 5), cystic renal disease, pancreatic atrophy, liver abnormalities, cognitive impairment and structural brain abnormalities. CDH has not been previously described with the 17q12 microdeletion syndrome. We hypothesize that CDH is part of the spectrum of this syndrome and likely not detected postnatally due to high prenatal mortality. Copyright © 2011 S. Karger AG, Basel.

  14. 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

  15. 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

  16. 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.

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

    Directory of Open Access Journals (Sweden)

    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.

  18. 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.

  19. 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

    Chromosome 8p23.1 is a common hotspot associated with major congenital malformations, including congenital diaphragmatic hernia (CDH) and cardiac defects. We present findings from high‐resolution arrays in patients who carry a loss (n = 18) or a gain (n = 1) of sub‐band 8p23.1. We confirm a region...

  20. Transient mega-esophagus in a neonate with congenital diaphragmatic hernia

    International Nuclear Information System (INIS)

    Makhoul, I.R.; Smolkin, T.; Sujov, P.; Shoshany, G.; Epelman, M.

    2001-01-01

    Esophageal dilatation (ED) in neonates is rare. In the present case, ED was detected in a chest radiograph following repair of congenital diaphragmatic hernia (CDH) in a term neonate. A roentgenographic swallow study on the seventh day of life demonstrated ED and a sub-diaphragmatic stomach. The infant thrived adequately on enteral feeding. A swallow study on the twentieth day of life showed a normal-width esophagus with gastroesophageal reflux and small hiatus hernia. The longstanding herniated stomach in the fetus apparently caused kinking, edema, and obstruction of the gastroesophageal junction. This led to a significant ED and concealment of gastroesophageal reflux. We aim to arouse awareness about the occurrence of ED with CDH, and about its benign course under conservative management. (orig.)

  1. Transient mega-esophagus in a neonate with congenital diaphragmatic hernia

    Energy Technology Data Exchange (ETDEWEB)

    Makhoul, I.R.; Smolkin, T.; Sujov, P. [Dept. of Neonatology, Rambam Medical Center and Rappaport Faculty of Medicine, Technion, Haifa (Israel); Shoshany, G. [Dept. of Pediatric Surgery, Rambam Medical Center and Rappaport Faculty of Medicine, Technion, Bat-Galim, Haifa (Israel); Epelman, M. [Dept. of Radiology, Rambam Medical Center and Rappaport Faculty of Medicine, Technion, Bat-Galim, Haifa (Israel)

    2001-05-01

    Esophageal dilatation (ED) in neonates is rare. In the present case, ED was detected in a chest radiograph following repair of congenital diaphragmatic hernia (CDH) in a term neonate. A roentgenographic swallow study on the seventh day of life demonstrated ED and a sub-diaphragmatic stomach. The infant thrived adequately on enteral feeding. A swallow study on the twentieth day of life showed a normal-width esophagus with gastroesophageal reflux and small hiatus hernia. The longstanding herniated stomach in the fetus apparently caused kinking, edema, and obstruction of the gastroesophageal junction. This led to a significant ED and concealment of gastroesophageal reflux. We aim to arouse awareness about the occurrence of ED with CDH, and about its benign course under conservative management. (orig.)

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

    Directory of Open Access Journals (Sweden)

    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.

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

    Directory of Open Access Journals (Sweden)

    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.

  4. 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.

  5. 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.

  6. Quantitative pulmonary perfusion imaging at 3.0 T of 2-year-old children after congenital diaphragmatic hernia repair: initial results

    International Nuclear Information System (INIS)

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

    2012-01-01

    To investigate whether dynamic contrast-enhanced MR imaging of the lung following congenital diaphragmatic hernia repair is feasible at 3.0 T in 2-year-old children and whether associated lung hypoplasia (reflected in reduced pulmonary microcirculation) can be demonstrated in MRI. Twelve children with a mean age 2.0 ± 0.2 years after hernia repair underwent DCE-MRI at 3.0 T using a time-resolved angiography with stochastic trajectories sequence. Quantification of lung perfusion was performed using a pixel-by-pixel deconvolution approach. Six regions of interest were placed (upper, middle and lower parts of right and left lung) to assess differences in pulmonary blood flow (PBF), pulmonary blood volume (PBV) and mean transit time (MTT) while avoiding the inclusion of larger pulmonary arteries and veins. The difference in PBF and PBV between ipsilateral and contralateral lung was significant (P < 0.5). No significant differences could be detected for the MTT (P = 0.5). DCE-MRI in 2-year-old patients is feasible at 3.0 T. Reduced perfusion in the ipsilateral lung is reflected by significantly lower PBF values compared with the contralateral lung. DCE-MRI of the lung in congenital diaphragmatic hernia can help to characterise lung hypoplasia initially and in the long-term follow-up of children after diaphragmatic repair. (orig.)

  7. Associated morbidities to congenital diaphragmatic hernia and a relationship to human milk.

    Science.gov (United States)

    Froh, Elizabeth B; Spatz, Diane L

    2012-08-01

    The majority of what is known in the recent literature regarding human milk studies in the neonatal intensive care setting is specific to term and/or preterm infants (including very-low-birth-weight preterm infants). However, there is a lack of human milk and breastfeeding literature concerning infants with congenital anomalies, specifically infants diagnosed with congenital diaphragmatic hernia (CDH). By applying human milk research conducted among other populations of infants, this article highlights how human milk may have a significant impact on infants with CDH. Recent human milk studies are reviewed and then applied to the CDH population in regard to respiratory and gastrointestinal morbidities, as well as infection and length of stay. In addition, clinical implications of these relationships are discussed and suggestions for future research are presented.

  8. 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.

  9. 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

  10. [Prenatal diagnosis of a right thoracic congenital ectopic kidney with a diaphragmatic hernia: a combination with a good prognosis].

    Science.gov (United States)

    Cessans, C; Pharamin, J; Crouzet, K; Kessler, S; Puget, C; Bouali, O; Galinier, P; Marcoux, M-O

    2015-11-01

    Ectopic intrathoracic kidney is a rare congenital anomaly, usually asymptomatic. This anomaly is sometimes associated with a diaphragmatic hernia. Few cases of this combination have been described, often in the absence of a prenatal diagnosis. We report on the case of a female newborn infant who was diagnosed with an ectopic intrathoracic right kidney and a diaphragmatic hernia upon 33 weeks of gestation. The patient underwent surgery on the first day of life and the respiratory and renal outcomes were simple. We review the literature and discuss the seemingly good prognosis of this combination. Copyright © 2015 Elsevier Masson SAS. All rights reserved.

  11. 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.

  12. Congenital Absence of Left Circumflex Coronary Artery

    Directory of Open Access Journals (Sweden)

    Zahra Ansari

    2009-09-01

    Full Text Available Congenital absence of left circumflex artery is a rare congenitalanomaly of the coronary arteries. The prevalence of theanomaly in different studies ranges from 0.6% to 1.3%. Ofthese, 80% are benign and asymptomatic and 20% are clinicallyimportant. We report a 56-year-old man presented withacute resting chest pain who was diagnosed as having acuteanterolateral infarction accompanied by electrocardiographicchanges and elevated cardiac enzymes. Coronary angiographyin different views was conducted, however, no left circumflexartery was found. The territory supplied by the artery had beenperfused by the super dominant right coronary artery. Therewas no left circumflex coronary artery with anomalous origin.Sever stenosis of left anterior ascending artery superimposedto the absent left circumflex artery was presented as acute anterolateralinfarction. Although absence of the artery is mostlyconsidered as a benign condition, atherosclerotic lesions maybe more important in such cases because of diminished compensatingmechanisms.

  13. Mutations in STRA6 cause a broad spectrum of malformations including anophthalmia, congenital heart defects, diaphragmatic hernia, alveolar capillary dysplasia, lung hypoplasia, and mental retardation

    NARCIS (Netherlands)

    Pasutto, Francesca; Sticht, Heinrich; Hammersen, Gerhard; Gillessen-Kaesbach, Gabriele; Fitzpatrick, David R.; Nuernberg, Gudrun; Brasch, Frank; Schirmer-Zimmermann, Heidemarie; Tolmie, John L.; Chitayat, David; Houge, Gunnar; Fernandez-Martinez, Lorena; Keating, Sarah; Mortier, Geert; Hennekam, Raoul C. M.; von der Wense, Axel; Slavotinek, Anne; Meinecke, Peter; Bitoun, Pierre; Becker, Christian; Nuernberg, Peter; Reis, Andre; Rauch, Anita

    2007-01-01

    We observed two unrelated consanguineous families with malformation syndromes sharing anophthalmia and distinct eyebrows as common signs, but differing for alveolar capillary dysplasia or complex congenital heart defect in one and diaphragmatic hernia in the other family. Homozygosity mapping

  14. Bochdalek Hernia with Adult Diaphragmatic Agenesis

    Directory of Open Access Journals (Sweden)

    Erkan Akar

    2013-10-01

    Full Text Available    Diaphragmatic hernia arises from pleuro-peritoneal membranes inability to close pericardioperitoneal membranes. Diaphragmatic defect may be located in esophageal hiatus (hiatal hernia, nearby the hiatus (paraesophageal, retrosternal (Morgagni or posterolateral (Bochdalek. Congenital diaphragmatic hernias (CDH diagnosed after neonatal period are defined as late presenting CDH. This group of patients consist 5-31% of CDHs and lead to diagnostic difficulties. A case of adult type Bochdalek hernia who was admitted to our clinic with respiratory problems and recognized late with the absence of left diaphragm was discussed in the light of clinical and surgical methods.

  15. Assessment of lung development in isolated congenital diaphragmatic hernia using signal intensity ratios on fetal MR imaging

    International Nuclear Information System (INIS)

    Balassy, Csilla; Kasprian, Gregor; Weber, Michael; Herold, Christian; Prayer, Daniela; Brugger, Peter C.; Csapo, Bence

    2010-01-01

    To investigate developmental changes in the apparently unaffected contralateral lung by using signal intensity ratios (SIR) and lung volumes (LV), and to search for correlation with clinical outcome. Twenty-five fetuses (22-37 weeks' gestation) were examined. Lung/liver signal intensity ratios (LLSIR) were assessed on T1-weighted and T2-weighted sequences for both lungs, then together with LV compared with age-matched controls of 91 fetuses by using the U test. Differences in LLSIRs and lung volumes were correlated with neonatal outcomes. LLSIRs in fetuses with congenital diaphragmatic hernia (CDH) were significantly higher in both lungs on T1-weighted images and significantly lower on T2-weighted images, compared with normals (p < 0.05), increasing on T2-weighted imaging and decreasing on T1-weighted imaging during gestation. Total LV were significantly smaller in the CDH group than in controls (p < 0.05). No significant differences in LLSIR of the two lungs were found. Outcomes correlated significantly with total LV, but not with LLSIR. Changes in LLSIR seem to reflect developmental impairment in CDH; however, they provide no additional information in predicting outcome. LV remains the best indicator on fetal MR imaging of neonatal survival in isolated, left-sided CDH. (orig.)

  16. Assessment of lung development in isolated congenital diaphragmatic hernia using signal intensity ratios on fetal MR imaging

    Energy Technology Data Exchange (ETDEWEB)

    Balassy, Csilla; Kasprian, Gregor; Weber, Michael; Herold, Christian; Prayer, Daniela [Medical University of Vienna, Department of Radiology, Vienna (Austria); Brugger, Peter C. [Medical University of Vienna, Centre of Anatomy and Cell Biology, Vienna (Austria); Csapo, Bence [Medical University of Vienna, Department of Obstetrics and Gyneocology, Vienna (Austria)

    2010-04-15

    To investigate developmental changes in the apparently unaffected contralateral lung by using signal intensity ratios (SIR) and lung volumes (LV), and to search for correlation with clinical outcome. Twenty-five fetuses (22-37 weeks' gestation) were examined. Lung/liver signal intensity ratios (LLSIR) were assessed on T1-weighted and T2-weighted sequences for both lungs, then together with LV compared with age-matched controls of 91 fetuses by using the U test. Differences in LLSIRs and lung volumes were correlated with neonatal outcomes. LLSIRs in fetuses with congenital diaphragmatic hernia (CDH) were significantly higher in both lungs on T1-weighted images and significantly lower on T2-weighted images, compared with normals (p < 0.05), increasing on T2-weighted imaging and decreasing on T1-weighted imaging during gestation. Total LV were significantly smaller in the CDH group than in controls (p < 0.05). No significant differences in LLSIR of the two lungs were found. Outcomes correlated significantly with total LV, but not with LLSIR. Changes in LLSIR seem to reflect developmental impairment in CDH; however, they provide no additional information in predicting outcome. LV remains the best indicator on fetal MR imaging of neonatal survival in isolated, left-sided CDH. (orig.)

  17. 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.

  18. Detection of gastroesophageal reflux in survivors of congenital diaphragmatic hernia: A radionuclide scintigraphic study in 26 children

    International Nuclear Information System (INIS)

    Thomas, E.J.; Bharathi Dasan, J.; Chandrasekhar, N.; Tripathi, M.; Kumar, R.; Kumar, A.; Malhotra, A.; Gupta, D.K.; Mitra, D.K.

    2002-01-01

    Introduction: Anatomical and functional esophageal abnormalities in survivors with CDH are well known. Gastro-esophageal Reflux (GER) is a common cause of long-term morbidity in survivors of congenital diaphragmatic hernia. The incidence of GER in these patients varies from 20-70% using various modalities. Aims: The present retrospective analysis was undertaken to find out the incidence of GER detected by radionuclide scintigraphy in survivors of congenital diaphragmatic hernia. Materials and Methods: Radionuclide scintigraphy for GER detection were performed in 26 survivors of congenital diaphragmatic hernia (17 male and 9 female) with a mean age of 19 months; age range 10 days to 56 months. Seven of the children had symptoms suggestive of GER. Of these 7, 3 had recurrent respiratory tract infection, 2 had regurgitation, 1 had vomiting and 1 had epigastric pain. The remaining 19 children were referred as part of routine follow up. All the children underwent radionuclide scintigraphy with 100-200 micro curie (3.7 -7.4MBq) of Tc99m-Sulphur Colloid. Results: The radionuclide scintigraphy detected GER in 11 out of 26(42.3%) children. Among the 7 symptomatic children, 4 (57%) had positive scintigraphic studies for reflux. Of these 4, 3(75%) had proximal reflux and 1 had distal reflux. Of the 19 asymptomatic patients, 7 (37%) were positive for GER on scintigraphy. Of these 7, 4 (57%) had proximal reflux and 3 (43%) had distal reflux. Conclusions: There is high incidence of GER in survivors of congenital diaphragmatic hernia irrespective of the presence or absence of symptoms suggestive of GER. Scintiscanning being a simple, noninvasive test can be used for initial evaluation of survivors of CDH for GER

  19. A systematic review with meta-analysis of the prevalence of gastroesophageal reflux in congenital diaphragmatic hernia pediatric survivors.

    Science.gov (United States)

    Arcos-Machancoses, J V; Ruiz Hernández, C; Martin de Carpi, J; Pinillos Pisón, S

    2018-02-09

    Congenital diaphragmatic hernia survivors are a well-known group at risk for developing gastroesophageal reflux disease that may be particularly long-term severe. The aim of this study is to provide a systematic review of the prevalence of gastroesophageal reflux in infant and children survivors treated for congenital diaphragmatic hernia.Electronic and manual searches were performed with keywords related to congenital diaphragmatic hernia, gastroesophageal reflux disease, and epidemiology terms. Summary estimates of the prevalence were calculated. Effect model was chosen depending on heterogeneity (I2). Factors potentially related with the prevalence, including study quality or the diagnostic strategy followed, were assessed by subgroup and meta-regression analyses. Risk of publication bias was studied by funnel plot analysis and the Egger test.The search yielded 140 articles, 26 of which were included in the analyses and provided 34 estimates of prevalence: 21 in patients aged 12 months or younger, and 13 in older children. The overall prevalence of gastroesophageal reflux disease in infants was 52.7% (95% confidence interval [CI]: 43.2% to 62.1%, I2 = 88.7%) and, in children over 1 year old, 35.1% (95% CI: 25.4% to 45.3%, I2 = 73.5%). Significant clinical and statistical heterogeneity was found. The strategy chosen for gastroesophageal reflux diagnosis influenced the reported prevalence. The only estimate obtained with a systematic use of multichannel intraluminal impedance provided a higher prevalence in both age groups: 83.3% (95% CI: 67.2% to 93.6%) and 61.1% (95% CI: 43.5% to 76.9%) respectively. This last prevalence did not significantly differ from that obtained using only low risk of bias estimates.As a conclusion, gastroesophageal reflux disease is commonly observed after congenital diaphragmatic hernia repair and is almost constantly present in the first months of life. It may be underdiagnosed if systematically esophageal monitoring is not

  20. 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.

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

    Energy Technology Data Exchange (ETDEWEB)

    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.)

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

    International Nuclear Information System (INIS)

    McHugh, Kieran; Afaq, Asim; Roebuck, Derek J.; Broderick, Nigel; Gabra, Hany O.; Elliott, Martin J.

    2010-01-01

    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.)

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

    Energy Technology Data Exchange (ETDEWEB)

    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.)

  4. Long-term neurodevelopmental outcomes of congenital diaphragmatic hernia survivors not treated with extracorporeal membrane oxygenation.

    Science.gov (United States)

    Frisk, Virginia; Jakobson, Lorna S; Unger, Sharon; Trachsel, Daniel; O'Brien, Karel

    2011-07-01

    Although there has been a marked improvement in the survival of children with congenital diaphragmatic hernia (CDH) in the past 2 decades, there are few reports of long-term neurodevelopmental outcome in this population. The present study examined neurodevelopmental outcomes in 10- to 16-year-old CDH survivors not treated with extracorporeal membrane oxygenation (ECMO). Parents of 27 CDH survivors completed questionnaires assessing medical problems, daily living skills, educational outcomes, behavioral problems, and executive functioning. Fifteen CDH survivors and matched full-term controls completed standardized intelligence, academic achievement, phonological processing, and working memory tests. Non-ECMO-treated CDH survivors demonstrated high rates of clinically significant difficulties on standardized academic achievement measures, and 14 of the 27 survivors had a formal diagnosis of specific learning disability, attention deficit hyperactivity disorder, or developmental disability. Specific problems with executive function, cognitive and attentional weaknesses, and social difficulties were more common in CDH patients than controls. Perioperative hypocapnia was linked to executive dysfunction, behavioral problems, lowered intelligence, and poor achievement in mathematics. Non-ECMO-treated CDH survivors are at substantial risk for neurodevelopmental problems in late childhood and adolescence. Copyright © 2011 Elsevier Inc. All rights reserved.

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

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    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.

  6. Congenital diaphragmatic hernia may be associated with 17q12 microdeletion syndrome.

    Science.gov (United States)

    Goumy, Carole; Laffargue, Fanny; Eymard-Pierre, Eléonore; Kemeny, Stéphen; Gay-Bellile, Mathilde; Gouas, Laetiti; Gallot, Denis; Francannet, Christine; Tchirkov, Andrei; Pebrel-Richard, Céline; Vago, Philippe

    2015-01-01

    Microdeletions of 17q12 encompassing TCF2 are associated with maturity-onset of diabetes of the young type 5, cystic renal disease, pancreatic atrophy, Mullerian aplasia in females and variable cognitive impairment. We report on a patient with a de novo 17q12 microdeletion, 1.8 Mb in size, associated with congenital diaphragmatic hernia (CDH). The 5-year-old male patient presented multicystic renal dysplasia kidneys, minor facial dysmorphic features and skeletal anomalies, but neither developmental delay nor behavioral abnormalities. CDH has been previously associated with the 17q12 microdeletion syndrome only in one prenatal case. The present study reinforces the hypothesis that CDH is part of the phenotype for 17q12 microdeletion and that 17q12 encompasses candidate(s) gene(s) involved in diaphragm development. We suggest that PIGW, a gene involved in an early step of GPI biosynthesis, could be a strong candidate gene for CDH. © 2014 Wiley Periodicals, Inc.

  7. Aggressive Surgical Management of Congenital Diaphragmatic Hernia: Worth the Effort?: A Multicenter, Prospective, Cohort Study.

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    Harting, Matthew T; Hollinger, Laura; Tsao, Kuojen; Putnam, Luke R; Wilson, Jay M; Hirschl, Ronald B; Skarsgard, Erik D; Tibboel, Dick; Brindle, Mary E; Lally, Pamela A; Miller, Charles C; Lally, Kevin P

    2018-05-01

    The objectives of this study were (i) to evaluate infants with congenital diaphragmatic hernia (CDH) that do not undergo repair, (ii) to identify nonrepair rate by institution, and (iii) to compare institutional outcomes based on nonrepair rate. Approximately 20% of infants with CDH go unrepaired and the threshold to offer surgical repair is variable. Data were abstracted from a multicenter, prospectively collected database. Standard clinical variables, including repair (or nonrepair), and outcome were analyzed. Institutions were grouped based on volume and rate of nonrepair. Preoperative mortality predictors were identified using logistic regression, expected mortality for each center was calculated, and observed /expected (O/E) ratios were computed for center groups and compared by Kruskal-Wallis ANOVA. A total of 3965 infants with CDH were identified and 691 infants (17.5%) were not repaired. Nonrepaired patients had lower Apgar scores (P HiLo = 5.1-16.7% and HiHi = 17.6-38.5%), leaving 3 groups: HiLo, HiHi, and Lo. Predictors of mortality were lower birth weight, lower Apgar scores, prenatal diagnosis, and presence of congenital anomalies. O/E ratios for mortality in the HiLo, HiHi, and Lo groups were 0.81, 0.94, and 1.21, respectively (P HiLo centers have 2.73 (2.4-3.1, 95% confidence interval) survivors beyond expectation. There are significant differences between repaired and nonrepaired CDH infants and significant center variation in rate of nonrepair exists. Aggressive surgical management, leading to a low rate of nonrepair, is associated with improved risk-adjusted mortality.

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

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    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.

  9. 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

  10. 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.

  11. 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

  12. Predictive capabilities of preoperative and postoperative pulmonary function tests in delayed repair of congenital diaphragmatic hernia.

    Science.gov (United States)

    Tracy, T F; Bailey, P V; Sadiq, F; Noguchi, A; Silen, M L; Weber, T R

    1994-02-01

    To improve the survival of newborns with congenital diaphragmatic hernia (CHD), preoperative stabilization with conventional ventilatory therapy and extracorporeal membrane oxygenation (ECMO) have been used. Measurements that quantify pulmonary function may allow an accurate assessment of lethal pulmonary hypoplasia and predict outcome. Pulmonary function tests (PFTs) were obtained in 20 infants preoperatively and postoperatively; these included measurements of compliance, dynamic compliance, and tidal volume. Overall survival was 75%. Six surviving infants were initially managed with ventilator therapy alone, followed by repair (group 1). The remaining 14 patients, who were moribund at presentation or whose initial ventilator therapy failed, were placed on ECMO and received repair during bypass; nine survived (group 2), and five died (group 3). Compliance, dynamic compliance, and tidal volume obtained at initial presentation and immediately preoperatively were significantly higher for group 1 as compared with groups 2 and 3. Infants whose initial compliance was greater than 0.25 mL/cm H2O/kg and initial tidal volume was greater than 3.5 mL/kg did not require ECMO. Ultimate improvement in compliance was noted in 5 of 6 patients in group 1, 8 of 8 patients in group 2, and 5 of 5 in group 3. This improvement followed an initial decline in compliance in 9 of 14 survivors, from 15% to 76%. All six patients in group 1 had tidal volumes of more than 4 mL/kg, as did 7 of 9 patients in group 2. Only one patient among the ECMO nonsurvivors (group 3) had a postoperative tidal volume of this magnitude. These data suggest that initial PFTs may predict which infants will require ECMO.(ABSTRACT TRUNCATED AT 250 WORDS)

  13. 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.

  14. Fascicular Phrenic Nerve Neurotization for Restoring Physiological Motion in a Congenital Diaphragmatic Hernia Reconstruction With a Reverse Innervated Latissimus Dorsi Muscle Flap.

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    Horta, Ricardo; Henriques-Coelho, Tiago; Costa, Joana; Estevão-Costa, José; Monteiro, Diana; Dias, Mariana; Braga, José; Silva, Alvaro; Azevedo, Inês; Amarante, José Manuel

    2015-08-01

    Congenital diaphragmatic hernia is a severe developmental anomaly characterized by the malformation of the diaphragm. An innervated reversed latissimus dorsi flap reconstruction for recurrent congenital diaphragmatic hernia has been described as an alternative to prosthetic patch repair to achieve pleuroperitoneal separation. However, there is very little supporting scientific data; therefore, there is no real basic understanding of the condition of the phrenic nerve in the absence of diaphragmatic muscle or even the neurotization options for restoring neodiaphragmatic muscle motion. We have reviewed the literature regarding phrenic nerve anatomy and neurotization options, and to our knowledge, this is the first time that the application of a fascicular repair is being described where the continuity of one remaining fascicle of the diaphragm has been preserved close to the phrenic nerve distal division. The procedure was undertaken in a 3 year-old boy, with the diagnosis of congenital large posteromedial diaphragmatic hernia and dependence of mechanical ventilation in consequence of severe bronchopulmonary dysplasia.The phrenic nerve divides itself into several terminal branches, usually three, at the diaphragm level, or just above it. This allows the selective coaptation of separate fascicular branches. In the case described, videofluoroscopy evaluation showed no evidence of paradoxical neodiaphragmatic motion, with synchronous contraction movements and intact pleura-peritoneal separation. The child is now asymptomatic and shows improvement of his previous restrictive pulmonary disease.We believe that fascicular repair can achieve some reinnervation of the flap without jeopardizing the potential of diaphragmatic function by contraction of reminiscent native diaphragm.

  15. Piston-pump-type high frequency oscillatory ventilation for neonates with congenital diaphragmatic hernia: a new protocol.

    Science.gov (United States)

    Tamura, M; Tsuchida, Y; Kawano, T; Honna, T; Ishibashi, R; Iwanaka, T; Morita, Y; Hashimoto, H; Tada, H; Miyasaka, K

    1988-05-01

    High frequency ventilation and extracorporeal membrane oxygenation (ECMO) are devices that are expected to save the lives of newborn infants whose pulmonary conditions have deteriorated. A piston-pump-type high-frequency oscillator (HFO), developed by Bryan and Miyasaka called "Hummingbird," is considered to be superior to high frequency "jet" ventilators or those of the flow-interrupter type, and was used successfully in two neonates with congenital diaphragmatic hernia (CDH) in a high-risk group. The first baby was on a conventional ventilator with pharmacologic support for the first 54 hours and then operated on. Postoperative deterioration necessitated the use of HFO for the next eight days. The infant then recovered uneventfully. For the second baby, HFO was necessary both preoperatively and postoperatively. This baby had a major diaphragmatic defect and her case was complicated with pneumothorax. There was a long stormy course on HFO (total, 70 days), but the patient was successfully extubated on the 75th day postoperatively and is now doing well. We believe active long preoperative stabilization with pharmacologic support and preoperative and postoperative hyperventilation with a piston-pump-type HFO may be a new innovative strategy for the management of severe CDH patients.

  16. Congenital bicuspid stenosis with left ventricular hypoplasia in a kitten.

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    van Nie, C J; van Messel, M A; Straatman, T J

    1980-01-15

    Congenital bicuspid stenosis with left ventricular hypoplasia was diagnosed in a kitten. Clinical weakness, dyspnoea and marked cardiomegaly (X rays) were related to postmortem findings. The cardiomegaly had resulted from an enlargement of the left auricular appendage. It is supposed the cardiomegaly developed after the closing of the foramen ovale.

  17. 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.

  18. Educational series in congenital heart disease:Congenital left-sided heart obstruction

    OpenAIRE

    Carr, Michelle; Curtis, Stephanie; Marek, Jan

    2018-01-01

    Congenital obstruction of the left ventricular outflow tract remains a significant problem and multilevel obstruction can often coexist. Obstruction can take several morphological forms and may involve the subvalvar, valvar or supravalvar portion of the aortic valve complex. Congenital valvar stenosis presenting in the neonatal period represents a spectrum of disorders ranging from the hypoplastic left heart syndrome to almost normal hearts. Treatment options vary dependent on the severity of...

  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. 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.

  1. 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

  2. Identifying neonates at a very high risk for mortality among children with congenital diaphragmatic hernia managed with extracorporeal membrane oxygenation.

    Science.gov (United States)

    Haricharan, Ramanath N; Barnhart, Douglas C; Cheng, Hong; Delzell, Elizabeth

    2009-01-01

    The purpose of this study was to identify mortality risk factors in children with congenital diaphragmatic hernia (CDH) treated with extracorporeal membrane oxygenation (ECMO) and generate a prediction score for those at a very high risk for mortality. Data on first ECMO runs of all neonates with CDH, between January 1997 and June 2007, were obtained from the Extracorporeal Life Support Organization registry (N = 2678). The data were split into "training data (TD)" (n = 2006) and "validation data" (n = 672). The primary outcome analyzed was in-hospital mortality. Modified Poisson regression was used for analyses. Overall in-hospital mortality among 2678 neonates (males, 57%; median age at ECMO, 1 day) was 52%. The univariate and multivariable analyses were performed using TD. An empirically weighted mortality prediction score was generated with possible scores ranging from 0 to 35 points. Of 69 who scored 14 or higher in the TD, 62 died (positive predictive value [PPV], 90%), of 37 with 15 or higher, 35 died (PPV, 95%), of 23 with 16 or higher, 22 died (PPV, 96%). A cut-off point of 15 was chosen and was tested using the separate validation dataset. In validation data, the cut-off point 15 had a PPV of 96% (23 died of 24). Scoring 15 or higher on the prediction score identifies neonates with CDH at a very high risk for mortality among those managed with ECMO and could be used in surgical decision making and counseling.

  3. 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.

  4. The Upturned Superior Mesenteric Artery Sign for First-Trimester Detection of Congenital Diaphragmatic Hernia and Omphalocele.

    Science.gov (United States)

    Lakshmy, Ravi Selvaraj; Agnees, Joy; Rose, Nity

    2017-03-01

    The aim of this study was to follow the course of the superior mesenteric artery (SMA) in first-trimester fetuses to predict the location of the small bowel. Its abnormal course aids in early detection of congenital diaphragmatic hernia (CDH) and assessment of the contents of omphalocele. The SMA can be easily identified in a sagittal section of the fetus by using color Doppler sonography at the 11- to 14-week scan, and normally, it has a downward course caudally to supply the intestines. The course of the SMA points to the location of the bowel. We report a series of 7 cases detected in first trimester with an abnormal course of the SMA, 3 of which had CDH and 4 of which had omphalocele. In CDH, the intestines herniate into the thoracic cavity; hence, the SMA tends to have an upward course toward the thorax. In 4 cases of omphalocele, the SMA follows the exteriorized bowel into the base of the umbilical cord. Second-trimester sonography for detection of congenital malformations is a standardized protocol, but a careful anatomic survey at the 11- to 14-week scan is often rewarding. When there is a suspicion of an intrathoracic mass or a mediastinal shift, the upturned course of SMA serves as a valuable sign in confirmation of CDH. Chromosomal abnormalities are often reported in cases of omphalocele containing small bowel only, and the upward course of the SMA toward the base of the cord helps in its early prenatal diagnosis, which facilitates early genetic assessment in these fetuses. © 2017 by the American Institute of Ultrasound in Medicine.

  5. Fetal lung volume in congenital diaphragmatic hernia: association of prenatal MR imaging findings with postnatal chronic lung disease.

    Science.gov (United States)

    Debus, Angelika; Hagelstein, Claudia; Kilian, A Kristina; Weiss, Christel; Schönberg, Stefan O; Schaible, Thomas; Neff, K Wolfgang; Büsing, Karen A

    2013-03-01

    To assess whether chronic lung disease (CLD) in surviving infants with congenital diaphragmatic hernia (CDH) is associated with lung hypoplasia on the basis of the results of antenatal observed-to-expected fetal lung volume (FLV) ratio measurement at magnetic resonance (MR) imaging. The study received approval from the institutional review board, with waiver of informed consent for this retrospective review from patients who had previously given informed consent for prospective studies. The ratio of observed to expected FLV at MR imaging was calculated in 172 fetuses with CDH. At postpartum day 28, the need for supplemental oxygen implicated the diagnosis of CLD. At day 56, patients with CLD were assigned to one of three groups-those with mild, moderate, or severe CLD-according to their demand for oxygen. Logistic regression analysis was used to assess the prognostic value of the individual observed-to-expected FLV ratio for association with postnatal development of CLD. Children with CLD were found to have significantly smaller observed-to-expected FLV ratios at MR imaging than infants without CLD (P CLD revealed significant differences in observed-to-expected FLV ratio between patients with mild CLD and those with moderate (P = .012) or severe (P = .007) CLD. For an observed-to-expected FLV ratio of 5%, 99% of patients with CDH developed CLD, compared with less than 5% of fetuses with an observed-to-expected FLV ratio of 50%. Perinatally, development and grade of CLD were further influenced by the need for extracorporeal membrane oxygenation (ECMO) (P CLD in surviving infants with CDH is associated with the prenatally determined observed-to-expected FLV ratio. Early neonatal therapeutic decisions can additionally be based on this ratio. Perinatally, ECMO requirement and gestational age at delivery are useful in further improving the estimated probability of CLD.

  6. 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.

  7. 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.

  8. 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.

  9. 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)

  10. 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.

  11. The Canadian Pediatric Surgery Network (CAPSNet): Lessons Learned from a National Registry Devoted to the Study of Congenital Diaphragmatic Hernia and Gastroschisis.

    Science.gov (United States)

    Butler, Alison E; Puligandla, Pramod S; Skarsgard, Erik D

    2015-12-01

    The Canadian Pediatric Surgery Network (CAPSNet) was created in 2005 by a geographically representative, multidisciplinary group of clinicians and researchers with the intent of establishing a national research registry for gastroschisis (GS) and congenital diaphragmatic hernia (CDH). Since then, CAPSNet has used this registry and its 16-center network to make contributions to the knowledge base informing best practices for GS and CDH care. More recently, CAPSNet has expanded its focus to include quality assurance and improvement at each of its sites, by issuing a benchmarked outcomes "report card" with its annual report. Finally, a major objective of CAPSNet has been to establish and adopt standardized, evidence-based practice guidelines for GS and CDH across all Canadian perinatal centers. Georg Thieme Verlag KG Stuttgart · New York.

  12. 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.)

  13. 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

  14. 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.

  15. 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

  16. Prenatal diagnosis of two fetuses with deletions of 8p23.1, critical region for congenital diaphragmatic hernia and heart defects.

    Science.gov (United States)

    Keitges, Elisabeth A; Pasion, Romela; Burnside, Rachel D; Mason, Carla; Gonzalez-Ruiz, Antonio; Dunn, Teresa; Masiello, Meredith; Gebbia, Joseph A; Fernandez, Carlos O; Risheg, Hiba

    2013-07-01

    Microdeletions of 8p23.1 are mediated by low copy repeats and can cause congenital diaphragmatic hernia (CDH) and cardiac defects. Within this region, point mutations of the GATA4 gene have been shown to cause cardiac defects. However, the cause of CDH in these deletions has been difficult to determine due to the paucity of mutations that result in CDH, the lack of smaller deletions to refine the region and the reduced penetrance of CDH in these large deletions. Mice deficient for one copy of the Gata4 gene have been described with CDH and heart defects suggesting mutations in Gata4 can cause the phenotype in mice. We report on the SNP microarray analysis on two fetuses with deletions of 8p23.1. The first had CDH and a ventricular septal defect (VSD) on ultrasonography and a family history of a maternal VSD. Microarray analysis detected a 127-kb deletion which included the GATA4 and NEIL2 genes which was inherited from the mother. The second fetus had an incomplete atrioventricular canal defect on ultrasonography. Microarray analysis showed a 315-kb deletion that included seven genes, GATA4, NEIL2, FDFT1, CTSB, DEFB136, DEFB135, and DEFB134. These results suggest that haploinsufficiency of the two genes in common within 8p23.1; GATA4 and NEIL2 can cause CDH and cardiac defects in humans. Copyright © 2013 Wiley Periodicals, Inc.

  17. Use of milrinone to treat cardiac dysfunction in infants with pulmonary hypertension secondary to congenital diaphragmatic hernia: a review of six patients.

    Science.gov (United States)

    Patel, Neil

    2012-01-01

    Pulmonary hypertension and secondary cardiac dysfunction are important contributors of morbidity and mortality in infants with congenital diaphragmatic hernia (CDH). Milrinone, a phosphodiesterase-3 inhibitor, may be useful in this setting for its combined actions as a pulmonary vasodilator and to improve systolic and diastolic function. This study aimed to assess the effects of milrinone on cardiac function and pulmonary artery pressure in infants with CDH. A retrospective review of echocardiograms performed on infants with CDH who received milrinone was performed. Tissue Doppler imaging velocities were used to assess systolic and diastolic function. Pulmonary artery pressure was assessed from the pattern and velocity of ductal shunting. Six infants with CDH and severe pulmonary hypertension were identified. Systolic and diastolic myocardial velocities were reduced in the right ventricle (RV) and interventricular septum (IVS) at baseline. In the 72 h after commencement of milrinone, there was a significant increase in early diastolic myocardial velocities in the RV, accompanied by increasing systolic velocities in the RV and IVS. Oxygenation index was significantly reduced, blood pressure unchanged, and ductal shunt velocity minimally altered over the same time period. Milrinone use was associated with an improvement in systolic and diastolic function in the RV, corresponding to an improvement in clinical status. Copyright © 2012 S. Karger AG, Basel.

  18. Prophylactic use of the Arabin cervical pessary in fetuses with severe congenital diaphragmatic hernia treated by fetoscopic endoluminal tracheal occlusion (FETO): preliminary experience.

    Science.gov (United States)

    Dobrescu, Oana; Cannie, Mieke M; Cordier, Anne-Gael; Rodó, Carlota; Fabietti, Isabella; Benachi, Alexandra; Carreras, Elena; Persico, Nicola; Hurtado, Ivan; Gucciardo, Léonardo; Jani, Jacques C

    2016-01-01

    The aim of this study was to describe whether the prophylactic use of a cervical pessary decreases the rate of premature birth in congenital diaphragmatic hernia (CDH) fetuses treated with fetoscopic tracheal occlusion (FETO). The study concerns a consecutive series of cases with CDH and FETO and a group of CDH without FETO. In a subgroup of the FETO group, a prophylactic cervical pessary was inserted the day following the procedure. Gestational age (GA) at birth was the primary outcome. Fifty-nine fetuses with FETO and 47 expectantly managed were included. The last 15 FETO had a cervical pessary inserted. The median GA at delivery in the FETO group with pessary was 35.1 weeks and was not different from that in the FETO group without a pessary (34.3 weeks; p = 0.28) but was below that in the expectantly managed group (38.3 weeks; p cervical pessary does not prolong gestation of CDH fetuses treated with FETO. © 2015 John Wiley & Sons, Ltd. © 2015 John Wiley & Sons, Ltd.

  19. A case report of congenital coronary artery fistula to the left ventricle

    International Nuclear Information System (INIS)

    Lee, Byung Hee; Yu, Shi Joon; Moon, Eon Soo; Kim, Sam Hyun; Choi, Young Hi

    1987-01-01

    Congenital coronary artery fistula is a rare malformation with an incidence of 0.4% of congenital heart disease. Among the various subtypes, fistula to the left ventricle is extremely rare with 6 reported cases till 1983. We present a case of coronary artery fistula between the right coronary artery and the left ventricle. The dilated right coronary artery formed a mass like bulging the right lower heart border in the plain chest PA, we think this is first case with a coronary artery fistula to the left ventricle, reported in Korea

  20. 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…

  1. 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.)

  2. Evaluation of diaphragmatic motion in normal and diaphragmatic paralyzed dogs using M-mode ultrasonography.

    Science.gov (United States)

    Choi, Mihyun; Lee, Namsoon; Kim, Ahyoung; Keh, Seoyeon; Lee, Jinsoo; Kim, Hyunwook; Choi, Mincheol

    2014-01-01

    Diagnosis of unilateral diaphragmatic paralysis in dogs is currently based on fluoroscopic detection of unequal movement between the crura. Bilateral paralysis may be more difficult to confirm with fluoroscopy because diaphragmatic movement is sometimes produced by compensatory abdominal muscle contractions. The purpose of this study was to develop a new method to evaluate diaphragmatic movement using M-mode ultrasonography and to describe findings for normal and diaphragmatic paralyzed dogs. Fifty-five clinically normal dogs and two dogs with diaphragmatic paralysis were recruited. Thoracic radiographs were acquired for all dogs and fluoroscopy studies were also acquired for clinically affected dogs. Two observers independently measured diaphragmatic direction of motion and amplitude of excursion using M-mode ultrasonography for dogs meeting study inclusion criteria. Eight of the clinically normal dogs were excluded due to abnormal thoracic radiographic findings. For the remaining normal dogs, the lower limit values of diaphragmatic excursion were 2.85-2.98 mm during normal breathing. One dog with bilateral diaphragmatic paralysis showed paradoxical movement of both crura at the end of inspiration. One dog with unilateral diaphragmatic paralysis had diaphragmatic excursion values of 2.00 ± 0.42 mm on the left side and 4.05 ± 1.48 mm on the right side. The difference between left and right diaphragmatic excursion values was 55%. Findings indicated that M-mode ultrasonography is a relatively simple and objective method for measuring diaphragmatic movement in dogs. Future studies are needed in a larger number of dogs with diaphragmatic paralysis to determine the diagnostic sensitivity of this promising new technique. © 2013 American College of Veterinary Radiology.

  3. Congenitally short trachea with compression of the left mainstem bronchus: MRI findings

    Energy Technology Data Exchange (ETDEWEB)

    De Priester, J.A.; Oei Toen-Khiam [Department of Radiology, University Hospital Maastricht (Netherlands); Vos, G.D.; Van Waardenburg, D.A. [Department of Pediatrics, Division of Pediatric Intensive Care, University Hospital Maastricht, Maastricht (Netherlands)

    1998-05-01

    The MRI features of congenitally short trachea in a patient presenting with respiratory distress are presented. Compression of the left mainstem bronchus by the aortic arch, a recognised complication of this anomaly, could be demonstrated by MRI, obviating the need for other imaging modalities. (orig.) With 2 figs., 5 refs.

  4. Congenitally short trachea with compression of the left mainstem bronchus: MRI findings

    International Nuclear Information System (INIS)

    De Priester, J.A.; Oei Toen-Khiam; Vos, G.D.; Van Waardenburg, D.A.

    1998-01-01

    The MRI features of congenitally short trachea in a patient presenting with respiratory distress are presented. Compression of the left mainstem bronchus by the aortic arch, a recognised complication of this anomaly, could be demonstrated by MRI, obviating the need for other imaging modalities. (orig.)

  5. Pointing with the Left and Right Hands in Congenitally Blind Children

    Science.gov (United States)

    Ittyerah, Miriam; Gaunet, Florence; Rossetti, Yves

    2007-01-01

    Congenitally blind and blindfolded sighted children at ages of 6, 8, 10 and 12 years performed a pointing task with their left and right index fingers at an array of three targets on a touch screen to immediate (0 s) and delayed (4 s) instructions. Accuracy was greater for immediate than delayed pointing and there was an effect of delay for the…

  6. 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, ...

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

    Directory of Open Access Journals (Sweden)

    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.

  8. 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

    Directory of Open Access Journals (Sweden)

    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

  9. 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.

  10. 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.

  11. 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.

  12. Occult diaphragmatic injuries caused by stab wounds.

    Science.gov (United States)

    Leppäniemi, Ari; Haapiainen, Reijo

    2003-10-01

    Missed diaphragmatic perforation caused by penetrating trauma can lead to subsequent strangulation of a hollow viscus, which has prompted the use of invasive diagnostic procedures to exclude occult diaphragmatic injuries in asymptomatic, high-risk patients. The objective of this study was to determine the incidence of occult diaphragmatic injuries caused by stab wounds of the lower chest and upper abdomen, and to examine the natural history and consequences of missed diaphragmatic injuries. On the basis of patient data from two previous randomized studies from our institution, a retrospective analysis was performed on 97 patients treated for anterior stab wounds located between the nipple line, the umbilical level, and the posterior axillary lines not having indications for immediate surgical exploration. The patients were divided into two groups on the basis of their initial randomized management (open or laparoscopic exploration vs. expectant observation). In the exploration group (n = 47), four diaphragmatic injuries (9%) were detected (three left-sided and one right-sided). Excluding patients with associated injuries requiring surgical repair, the incidence of occult diaphragmatic injuries was 3 of 43 (7%). In the observation group (n = 50), there were two patients (4%) with delayed presentation of missed left-sided diaphragmatic injury 2 and 23 months later, respectively. Both injuries resulted from stab wounds of the left flank and presented with herniation of the stomach or small bowel and colon. The overall incidence of occult diaphragmatic injuries in left-sided thoracoabdominal stab wounds was 4 of 24 (17%), and was much lower after stab wounds of left epigastrium (0%), right lower chest (0%), and right epigastrium (4%). In asymptomatic patients with anterior or flank stab wounds of the lower chest or upper abdominal area, the risk of an occult diaphragmatic injury is approximately 7% which, if undetected, is associated with a high risk of subsequent

  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. Formed Due to Traumatic Diaphragmatic Injury, A Case of Gastric Perforation

    Directory of Open Access Journals (Sweden)

    Ceren Sen Tanrikulu

    2014-03-01

    Full Text Available Diaphragmatic hernia may be congenital or traumatic in origin. Diaphragmatic hernias are more common in adult and occur as a result of penetrating injuries are more common than from blunt injuries. Traumatic diaphragmatic hernia may manifest immediately or without any findings that several months/years after the incident. Early diagnosis is difficult, and it is usually made intraoperatively. Frequently during the early phase of traumatic diaphragmatic hernias, abdominal organ injury can be seen, such as stomach, colon and liver. In this study, we presented a case with acute gastric strangulation and perforation in the diaphragmatic injury occurred as a result of penetrating thoracic trauma.

  15. Congenital left ventricular wall abnormalities in adults detected by gated cardiac multidetector computed tomography: Clefts, aneurysms, diverticula and terminology problems

    International Nuclear Information System (INIS)

    Erol, Cengiz; Koplay, Mustafa; Olcay, Ayhan; Kivrak, Ali Sami; Ozbek, Seda; Seker, Mehmet; Paksoy, Yahya

    2012-01-01

    Objectives: Our aim was to evaluate congenital left ventricular wall abnormalities (clefts, aneurysms and diverticula), describe and illustrate imaging features, discuss terminology problems and determine their prevalence detected by cardiac CT in a single center. Materials and methods: Coronary CT angiography images of 2093 adult patients were evaluated retrospectively in order to determine congenital left ventricular wall abnormalities. Results: The incidence of left ventricular clefts (LVC) was 6.7% (141 patients) and statistically significant difference was not detected between the sexes regarding LVC (P = 0.5). LVCs were single in 65.2% and multiple in 34.8% of patients. They were located at the basal to mid inferoseptal segment of the left ventricle in 55.4%, the basal to mid anteroseptal segment in 24.1%, basal to mid inferior segment in 17% and septal–apical septal segment in 3.5% of cases. The cleft length ranged from 5 to 22 mm (mean 10.5 mm) and they had a narrow connection with the left ventricle (mean 2.5 mm). They were contractile with the left ventricle and obliterated during systole. Congenital left ventricular septal aneurysm that was located just under the aortic valve was detected in two patients (0.1%). No case of congenital left ventricular diverticulum was detected. Conclusion: Cardiac CT allows us to recognize congenital left ventricular wall abnormalities which have been previously overlooked in adults. LVC is a congenital structural variant of the myocardium, is seen more frequently than previously reported and should be differentiated from aneurysm and diverticulum for possible catastrophic complications of the latter two.

  16. 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.)

  17. Chromosomal abnormalities and copy number variations in fetal left-sided congenital heart defects.

    Science.gov (United States)

    Jansen, Fenna A R; Hoffer, Mariette J V; van Velzen, Christine L; Plati, Stephani Klingeman; Rijlaarsdam, Marry E B; Clur, Sally-Ann B; Blom, Nico A; Pajkrt, Eva; Bhola, Shama L; Knegt, Alida C; de Boer, Marion A; Haak, Monique C

    2016-02-01

    To demonstrate the spectrum of copy number variants (CNVs) in fetuses with isolated left-sided congenital heart defects (CHDs), and analyse genetic content. Between 2003 and 2012, 200 fetuses were identified with left-sided CHD. Exclusion criteria were chromosomal rearrangements, 22q11.2 microdeletion and/or extra-cardiac malformations (n = 64). We included cases with additional minor anomalies (n = 39), such as single umbilical artery. In 54 of 136 eligible cases, stored material was available for array analysis. CNVs were categorized as either (likely) benign, (likely) pathogenic or of unknown significance. In 18 of the 54 isolated left-sided CHDs we found 28 rare CNVs (prevalence 33%, average 1.6 CNV per person, size 10.6 kb-2.2 Mb). Our interpretation yielded clinically significant CNVs in two of 54 cases (4%) and variants of unknown significance in three other cases (6%). In left-sided CHDs that appear isolated, with normal chromosome analysis and 22q11.2 FISH analysis, array analysis detects clinically significant CNVs. When counselling parents of a fetus with a left-sided CHD it must be taken into consideration that aside from the cardiac characteristics, the presence of extra-cardiac malformations and chromosomal abnormalities influence the treatment plan and prognosis. © 2015 John Wiley & Sons, Ltd.

  18. Paper-thinned diaphragm: CT sign of diaphragmatic eventration

    International Nuclear Information System (INIS)

    Im, Jung Gi; Han, Man Chung; Kim, Chu Wan; Shim, Young Soo

    1990-01-01

    CT findings of total left hemidiaphragmatic eventration in two adult patients are described. Chest radiograph showed elevated left hemidiaphragm and left hilum. Paper-thinned muscular portion of the diseased diaphragm was clearly demonstrated with CT scan. With demonstration of paper-thinned diaphragm by CT scan, differentiation of the diaphragmatic eventration from recent onset phrenic nerve paralysis by tumor invasion or from post-traumatic diaphragmatic hernia can be made

  19. Paper-thinned diaphragm: CT sign of diaphragmatic eventration

    Energy Technology Data Exchange (ETDEWEB)

    Im, Jung Gi; Han, Man Chung; Kim, Chu Wan; Shim, Young Soo [College of Medicine, Seoul National Univ., Seoul (Korea, Republic of)

    1990-10-15

    CT findings of total left hemidiaphragmatic eventration in two adult patients are described. Chest radiograph showed elevated left hemidiaphragm and left hilum. Paper-thinned muscular portion of the diseased diaphragm was clearly demonstrated with CT scan. With demonstration of paper-thinned diaphragm by CT scan, differentiation of the diaphragmatic eventration from recent onset phrenic nerve paralysis by tumor invasion or from post-traumatic diaphragmatic hernia can be made.

  20. 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

  1. Case of congenital absence of the left pericardium. In special reference to diagnostic significance of echocardiography and thoracic computed tomography

    Energy Technology Data Exchange (ETDEWEB)

    Toda, Genji; Katayama, Tomoyuki; Honda, Yukiharu; Eguchi, Keisuke [Nagasaki City Hospital (Japan); Mori, Hideki; Oku, Yasuhiko

    1983-11-01

    In a 24-year-old female patient with complete congenital absence of the left pericardium, M mode echocardiography revealed that excessive motility of the left posterior ventricular wall observed in a supine position became more conspicuous in the left lateral position. In this postural position, a systolic notch in the posterior left ventricular wall, which was attributed to a large displacement of the heart to the left posteriorly in the early systolic phase, was observed. Thoracic CT visualized an extensive defect of the left pericardium even in a supine position by combination of artificial pneumothorax. In the left lateral position, CT clearly visualized the remaining end of the left pericardium in defect on 2 slices, front and back.

  2. 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.

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

    Directory of Open Access Journals (Sweden)

    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.

  4. Right Coronary Artery Originated from the Left Anterior Descending Artery in a Patient with Congenital Pulmonary Valvular Stenosis

    Directory of Open Access Journals (Sweden)

    Yusuf Hoşoğlu

    2013-01-01

    Full Text Available The single coronary artery, anomalous origin of the right coronary artery from the left anterior descending artery, is a benign and very rare coronary artery anomaly. We firstly present a case with this type of single coronary artery and congenital pulmonary valvular stenosis with large poststenotic dilatation.

  5. 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.

  6. Congenital coronary-pulmonary artery fistula originating from right and left coronary artery

    Directory of Open Access Journals (Sweden)

    Ali Kemal Gür

    2013-12-01

    Full Text Available Coronary artery fistula (CAF is a rare congenital anomalywith an incidence of 1 in 50 000 live births. The fistula wasobserved at the right coronary artery in 53%, the left coronaryartery in 42% and both coronary artery in 5% of thecases. Echocardiography examination in a 46 year-oldwoman with the symptoms of chest pain, palpitation anddyspnea revealed a severe mitral valve insufficiency anda moderate to severe tricuspid valve insufficiency. A CAForiginating from the proximal part of the left anterior descendingartery (LAD and another fistula originating fromosteal part of the right coronary artery (RCA were detectedby coronary angiography. Both fistulas were draininginto the main pulmonary artery. The coronary artery fistulaclosed under cardiopulmonary by-pass. Mitral insufficiencyoriginated from the posterior leaflet was diagnosedintra-operative exploration, and thereafter it was repairedwith mitral annuloplasty including a quadrangular resectionand use of a 32 No St Jude mitral ring. Tricuspid valvewas repaired with Calangos Ring annuloplasty. Followingsix day hospital stay, the woman was discharged free ofany symptom.Key words: Dyspnea, double arteriovenous fistula, mitral and tricuspid insufficiency

  7. 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

    Energy Technology Data Exchange (ETDEWEB)

    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.)

  8. 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

    International Nuclear Information System (INIS)

    Weis, M.; Sommer, V.; Hagelstein, C.; Schoenberg, S.O.; Neff, K.W.; Zoellner, F.G.; Zahn, K.; Schaible, T.

    2016-01-01

    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.)

  9. Diaphragmatic Hernia Masquerading as Pleural Effusion | Nalladaru ...

    African Journals Online (AJOL)

    Rupture of the diaphragm is almost always due to major trauma. We present here an unusual and rare case of late presentation of diaphragmatic hernia after an innocuous injury. The patient was initially misdiagnosed as a left pleural effusion on the basis of chest X.ray and ultrasound findings. Finally, the diagnosis was ...

  10. 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.

  11. 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.

  12. Impaired holistic processing of left-right composite faces in congenital prosopagnosia.

    Science.gov (United States)

    Liu, Tina T; Behrmann, Marlene

    2014-01-01

    Congenital prosopagnosia (CP) refers to a lifelong impairment in face processing despite normal visual and intellectual skills. Many studies have suggested that the key underlying deficit in CP is one of a failure to engage holistic processing. Moreover, there has been some suggestion that, in normal observers, there may be greater involvement of the right than left hemisphere in holistic processing. To examine the proposed deficit in holistic processing and its potential hemispheric atypicality in CP, we compared the performance of 8 CP individuals with both matched controls and a large group of non-matched controls on a novel, vertical composite task. In this task, participants judged whether a cued half of a face (either left or right half) was the same or different at study and test, and the two face halves could be either aligned or misaligned. The standard index of holistic processing is one in which the unattended face half influences performance on the cued half and this influence is greater in the aligned than in the misaligned condition. Relative to controls, the CP participants, both at a group and at an individual level, did not show holistic processing in the vertical composite task. There was also no difference in performance as a function of hemifield of the cued face half in the CP individuals, and this was true in the control participants, as well. The findings clearly confirm the deficit in holistic processing in CP and reveal the useful application of this novel experimental paradigm to this population and potentially to others as well.

  13. Congenital left paraduodenal hernia causing chronic abdominal pain and abdominal catastrophe.

    Science.gov (United States)

    Shi, Yan; Felsted, Amy E; Masand, Prakash M; Mothner, Brent A; Nuchtern, Jed G; Rodriguez, J Ruben; Vasudevan, Sanjeev A

    2015-04-01

    Paraduodenal hernias are the most common type of congenital internal hernia. Because of its overall rare incidence, this entity is often overlooked during initial assessment of the patient. Lack of specific diagnostic criteria also makes diagnosis exceedingly difficult, and the resulting diagnostic delays can lead to tragic outcomes for patients. Despite these perceived barriers to timely diagnosis, there may be specific radiographic findings that, when combined with the appropriate constellation of clinical symptoms, would aid in diagnosis. This patient first presented at 8 years of age with vague symptoms of postprandial emesis, chronic abdominal pain, nausea, and syncope. Over the span of 6 years he was evaluated 2 to 3 times a year with similar complaints, all of which quickly resolved spontaneously. He underwent multiple laboratory, imaging, and endoscopic studies, which were nondiagnostic. It was not until he developed signs of a high-grade obstruction and extremis that he was found to have a large left paraduodenal hernia that had volvulized around the superior mesenteric axis. This resulted in the loss of the entire superior mesenteric axis distribution of the small and large intestine and necrosis of the duodenum. In cases of chronic intermittent obstruction without clear etiology, careful attention and consideration should be given to the constellation of symptoms, imaging studies, and potential use of diagnostic laparoscopy. Increased vigilance by primary care and consulting physicians is necessary to detect this rare but readily correctable condition. Copyright © 2015 by the American Academy of Pediatrics.

  14. Diaphragmatic crural eventration

    Directory of Open Access Journals (Sweden)

    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.

  15. 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

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

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    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

  17. The effect of anatomic differences on the relationship between renal artery and diaphragmatic crus.

    Science.gov (United States)

    Esen, K; Tok, S; Balci, Yuksel; Apaydin, F D; Kara, E; Uzmansel, D

    2018-01-01

    The aim of this study is to investigate the effect of anatomic differences on the relationship between renal artery and diaphragmatic crus via the touch of two structures. The study included dynamic computed tomography (CT) scans of 308 patients performed mainly for characterisation of liver and renal masses. Anatomic differences including the thickness of the diaphragmatic crus, the localisation of renal artery ostium at the wall of aorta, the level of renal artery origin with respect to superior mesenteric artery were evaluated. Statistical relationships between renal artery-diaphragmatic crus contact and the anatomic differences were assessed. Thickness of the diaphragmatic crus at the level of renal artery origin exhibited a statistically significant relationship to renal artery-diaphragmatic crus contact at the left (p renal artery origin and renal artery- -diaphragmatic crus contact at the left (p renal artery ostium at the wall of aorta (right side, p = 0.436, left side, p = 0.681) did not demonstrate a relationship to renal artery-diaphragmatic crus contact. Thickness of the diaphragmatic crus and high renal artery origin with respect to superior mesenteric artery are crucial anatomic differences determining the relationship of renal artery and diaphragmatic crus. (Folia Morphol 2018; 77, 1: 22-28).

  18. 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.

  19. Vasopressin in perioperative management of congenital ...

    African Journals Online (AJOL)

    Perioperative care of infants with diaphragmatic hernias can be a challenge because of pulmonary hypertension and systemic hypotension. The objective of this study was to report the usefulness of vasopressin infusion in improving pulmonary and systemic haemodynamics in an infant with congenital diaphragmatic hernia.

  20. Familial Screening for Left-Sided Congenital Heart Disease: What Is the Evidence? What Is the Cost?

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    Daniel J. Perry

    2017-12-01

    Full Text Available Since the American Heart Association’s recommendation for familial screening of adults with congenital heart disease for bicuspid aortic valve, similar recommendations for other left-sided heart defects, such as hypoplastic left heart syndrome (HLHS, have been proposed. However, defining at-risk populations for these heart defects based on genetics is less straightforward due to the wide variability of inheritance patterns and non-genetic influences such as environmental and lifestyle factors. We discuss whether there is sufficient evidence to standardize echocardiographic screening for first-degree relatives of children diagnosed with HLHS. Due to variations in the inclusion of cardiac anomalies linked to HLHS and the identification of asymptomatic individuals with cardiac malformations, published studies are open to interpretation. We conclude that familial aggregation of obstructive left-sided congenital heart lesions in families with history of HLHS is not supported and recommend that additional screening should adopt a more conservative definition of what truly constitutes this heart defect. More thorough consideration is needed before embracing familial screening recommendations of families of patients with HLHS, since this could inflict serious costs on healthcare infrastructure and further burden affected families both emotionally and financially.

  1. Evaluation of left ventricular volumes in patients with congenital heart disease and abnormal left ventricular geometry. Comparison of MRI and transthoracic 3-dimensional echocardiography

    International Nuclear Information System (INIS)

    Gutberlet, M.; Grothoff, M.; Roettgen, R.; Lange, P.; Felix, R.; Abdul-Khaliq, H.; Schroeter, J.; Schmitt, B.; Vogel, M.

    2003-01-01

    Purpose: To assess the new method of 3-dimensional echocardiography in comparison to the 'gold standard' MRI as to its ability to calculate left ventricular volumes in patients with congenital heart disease. Materials and methods: Eighteen patients between the ages of 3.9 to 37.3 years (mean: 12.8±9.7) with a geometrically abnormal left ventricle were examined using a 1.5 T scanner with a fast gradient-echo sequence (TR=14 ms, TE=2.6-2.9 ms, FOV=300-400 mm, flip angle=20 , matrix=128:256, slice thickness=5 mm, retrospective gating) in multislice-multiphase technique. Transthoracic 3D-echocardiography was performed with a 3.5 MHz transducer and a Tomtec trademark (Munich, Germany) system for 3D reconstruction. Results: Volume calculation was possible in all patients with 3D-echocardiography, but the muscle mass calculation only succeeded in 11 to 18 patients (61%) due to inadequate visualization of the entire myocardium. Comparing MRI and 3D-echocardiography, the correlation was r=0.97 for the end-systolic volumes, r=0.98 for the end-diastolic volumes, r=0.79 for the end-systolic muscle mass and r=0.77 for the end-diastolic muscle mass. The agreement between both methods was considered good for the calculated end-diastolic volumes and sufficient for the calculated end-systolic volumes. The muscle mass calculations showed larger differences especially for the end-systolic mass. Mean intraobserver variability was 18.6% for end-systolic and 8.3% for end-diastolic volumes. Conclusion: In patients with an abnormal left ventricular configuration due to congenital heart disease, the new method of 3D-echocardiography is sufficient for volume calculations in preselected patients. The high intraobserver variability is still a limitation of transthoracic 3D-echocardiography in comparison to MRI. (orig.) [de

  2. Early hemi-diaphragmatic plication following intraoperative phrenic nerve transection during complete AV canal repair

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    Hamad Alowayshiq

    2018-04-01

    Full Text Available Unilateral diaphragmatic palsy reduces pulmonary function by about 25% in older children and usually it is well tolerated; however, it causes severe respiratory distress in infants and young children. Diaphragmatic plication performed later than 10 days after cardiac surgery for patients under 1 year of age was associated with higher incidence of pneumonia and mortality. The management of the diaphragmatic paralysis due to phrenic nerve injury aiming mainly to preserve the respiratory function. Until now, the optimal management of diaphragmatic palsy in children who have undergone cardiac surgery remains controversial and consists of prolonged ventilation or diaphragmatic plication. In our case, many factors supported early diaphragmatic plication, the age of the patient, post-operative AV canal repair with severe pulmonary hypertension, and clear transection of the left phrenic nerve diagnosed intraoperatively.

  3. 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

  4. Body composition variation following diaphragmatic breathing ...

    African Journals Online (AJOL)

    Body composition variation following diaphragmatic breathing. ... effect of commonly prescribed diaphragmatic breathing training on the body composition ... a non-exercising control (NE) group (n = 22) or diaphragmatic breathing (DB) group.

  5. Aortopathy in Congenital Heart Disease in Adults: Aortic Dilatation with Decreased Aortic Elasticity that Impacts Negatively on Left Ventricular Function.

    Science.gov (United States)

    Niwa, Koichiro

    2013-04-01

    Bicuspid aortic valve and/or coarctation of the aorta are consistently associated with ascending aortic and para-coarctation medial abnormalities. Medial abnormalities in the ascending aorta are prevalent in other types of patients with a variety of forms congenital heart disease (CHD), such as single ventricle, persistent truncus arteriosus, transposition of the great arteries, hypoplastic left heart syndrome, tetralogy of Fallot. These abnormalities encompass a wide age range, and may predispose to dilatation, aneurysm, and rupture that necessitates aortic valve and root surgery. This dilatation can develop in CHD patients without stenotic region. These CHDs exhibit ongoing dilatation of the aortic root and reduced aortic elasticity and increased aortic stiffness that may relate to intrinsic properties of the aortic root. The concept of aortic dilatation is shifting a paradigm of aortic dilatation, as so called post stenotic dilatation, to primary intrinsic aortopahy. These aortic dilatation and increased stiffness can induce aortic aneurysm, rupture of the aorta and aortic regurgitation, but also provoke left ventricular hypertrophy, reduced coronary artery flow and left ventricular failure. We can recognize this association of aortic pathophysiological abnormality, aortic dilation and aorto-left ventricular interaction as a new clinical entity: "aortopathy".

  6. [Surgical treatment of congenital obstruction of the left ventricular outflow tract].

    Science.gov (United States)

    Biocina, B; Sutlić, Z; Husedinović, I; Letica, D; Sokolić, J

    1993-01-01

    This report presents the classification and all types of left ventricular outflow tract obstructions. The possibilities of operative therapies are surveyed as well. Results of surgical treatment in 34 patients with obstruction to left ventricular outflow are shown. The majority of patients underwent operation under extracorporeal circulation (84.4%), while the rest were operated by means of the inflow occlusion technique (14.7%). The obtained results were compared with those from the literature. The importance of echocardiographic evaluation of location of the left ventricular outflow tract obstruction and the appropriate choice of a surgical technique according to the patient's age are emphasized.

  7. Management of diaphragmatic rupture from blunt trauma.

    Science.gov (United States)

    Tan, K K; Yan, Z Y; Vijayan, A; Chiu, M T

    2009-12-01

    Diagnosis of diaphragmatic rupture is difficult, and delays could result in a catastrophic outcome. We reviewed our institution's management of patients with diaphragmatic rupture after blunt trauma. All patients in this study were treated at Tan Tock Seng Hospital, Singapore, from March 2002 to October 2008. Patients with penetrating injuries were excluded. The parameters included age, mechanism of injury, haemodynamic status at admission, Glasgow coma scale (GCS) score, injury severity score (ISS), imaging studies, location of diaphragmatic injuries, associated injuries and outcome. 14 patients with a median age of 38 years formed the study group. Vehicular-related incidents accounted for 71.4 percent of the injuries. The median GCS score on admission was 14 (range 3-15), while the median systolic blood pressure and heart rate were 94 (range 50-164) mmHg and 110 (range 76-140) beats per minute, respectively. The median ISS was 41 (range 14-66). All had chest radiographs performed in the emergency department, six (42.9 percent) had computed tomography performed before surgery, while the remaining eight (57.1 percent) were sent straight to the operating theatre from the emergency department. There were five (35.7 percent) right-sided and nine (64.3 percent) left-sided diaphragmatic ruptures. The mortality rate was 35.7 percent. Some of the associated injuries included eight (57.1 percent) splenic lacerations, five (35.7 percent) haemothorax and lung injuries, four (28.6 percent) bone fractures and three (21.4 percent) liver lacerations. 12 (85.7 percent) patients underwent repair of the diaphragmatic rupture using interrupted polypropylene suture, while the remaining two (14.3 percent) were too haemodynamically unstable to undergo definitive treatment. Advanced age, haemodynamic instability and raised ISS were associated with mortality. An accurate diagnosis of diaphragmatic rupture in trauma patients is difficult, and a thorough examination of both the

  8. 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.

  9. Single left coronary ostium and an anomalous prepulmonic right coronary artery in 2 dogs with congenital pulmonary valve stenosis.

    Science.gov (United States)

    Visser, Lance C; Scansen, Brian A; Schober, Karsten E

    2013-06-01

    A coronary artery anomaly characterized by the presence of a single left coronary ostium with absence of the right coronary ostium and an anomalous prepulmonic right coronary artery course was observed in two dogs with concurrent congenital pulmonary valve stenosis. This unique coronary artery anatomy is similar to the previously described single right coronary ostium with anomalous prepulmonic left coronary artery, the so-called type R2A anomaly, in that an anomalous coronary artery encircles the pulmonary valve annulus. Both dogs of this report, a boxer and an English bulldog, were of breeds known to be at risk for the type R2A anomaly. As such, veterinarians should be aware that the echocardiographic presence of a left coronary ostium in a dog with pulmonary valve stenosis does not exclude the possibility of a prepulmonic coronary artery anomaly that may enhance the risk of complications during balloon pulmonary valvuloplasty. A descriptive naming convention for coronary artery anomalies in dogs is also presented, which may be preferable to the older coding classification scheme. Copyright © 2013 Elsevier B.V. All rights reserved.

  10. 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

  11. 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.

  12. Laparoscopic diaphragmatic hernia repair using expanded polytetrafluoroethylene (ePTFE) for delayed traumatic diaphragmatic hernia.

    Science.gov (United States)

    Jee, Yeseob

    2017-06-01

    Traumatic diaphragmatic hernia (TDH) is an uncommon surgical problem, and diagnosis is often delayed. However, the mortality from bowel necrosis can reach 80%. Therefore, suspicion is needed and surgery is required to prevent complications. A 50-year-old man was transferred due to abdominal pain and vomiting. Chest X-ray and computed tomography (CT) scan showed herniation of the stomach through the left diaphragm. The patient had fallen down 15 months ago and CT scan at that time revealed a small defect of the diaphragm without herniation. We diagnosed delayed herniation of TDH and the patient underwent laparoscopic repair using an expanded polytetrafluoroethylene (ePTFE) mesh. Recovery was uneventful and the CT scan at 3 months after the operation showed no recurrence. We reported a delayed presenting TDH and considered a laparoscopic approach to be safe and feasible during elective surgery. Moreover, use of an ePTFE mesh for repair of large diaphragmatic hernia was also feasible.

  13. Traumatic diaphragmatic injuries: epidemiological, diagnostic and therapeutic aspects.

    Science.gov (United States)

    Thiam, Ousmane; Konate, Ibrahima; Gueye, Mohamadou Lamine; Toure, Alpha Omar; Seck, Mamadou; Cisse, Mamadou; Diop, Balla; Dirie, Elias Said; Ka, Ousmane; Thiam, Mbaye; Dieng, Madieng; Dia, Abdarahmane; Toure, Cheikh Tidiane

    2016-01-01

    Diaphragmatic injuries include wounds and diaphragm ruptures, due to a thoracoabdominal blunt or penetrating traumas. Their incidence ranges between 0.8 and 15 %. The diagnosis is often delayed, despite several medical imaging techniques. The surgical management remains controversal, particularly for the choice of the surgical approach and technique. The mortality is mainly related to associated injuries. The aim of our study was to evaluate the incidence of diaphragmatic injuries occuring in thoraco-abdominal traumas, and to discuss their epidemiology, diagnosis and treatment. We performed a retrospective study over a period of 21 years, between January 1994 and June 2015 at the Department of General Surgery of the Aristide Le Dantec hospital in Dakar, Senegal. All patients diagnosed with diaphragmatic injuries were included in the study. Over the study period, 1535 patients had a thoraco-abdominal trauma. There were 859 cases of blunt trauma, and 676 penetrating chest or abdominal trauma. Our study involved 20 cases of diaphragmatic injuries (1.3 %). The sex-ratio was 4. The mean age was 33 years. Brawls represented 83.3 % (17 cases). Stab attacks represented 60 % (12 cases). The incidence of diaphragmatic injury was 2.6 %. The wound was in the thorax in 60 % (seven cases). Chest radiography was contributory in 45 % (nine cases). The diagnosis of wounds or ruptures of the diaphragm was done preoperatively in 45 % (nine cases). The diaphragmatic wound was on the left side in 90 % (18 cases) and its mean size was 4.3 cm. The surgical procedure involved a reduction of herniated viscera and a suture of the diaphragm by "X" non absorbable points in 85 % (17 cases). A thoracic aspiration was performed in all patients. Morbidity rate was 10 % and mortality rate 5 %. The diagnosis of diaphragmatic rupture and wounds remains difficult and often delayed. They should be kept in mind in any blunt or penetrating thoraco-abdominal trauma. Diaphragmatic lesions

  14. 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.)

  15. 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.)

  16. 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.)

  17. 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.)

  18. 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

  19. Bilateral diaphragmatic paralysis after cardiac surgery: ventilatory assistance by nasal mask continuous positive airway pressure.

    Science.gov (United States)

    Hoch, B; Zschocke, A; Barth, H; Leonhardt, A

    2001-01-01

    The case of an 8-month-old boy with bilateral diaphragmatic paralysis after surgical reoperation for congenital heart disease is presented. In order to avoid repeated intubation and long-term mechanical ventilation or tracheotomy, we used nasal mask continuous positive airway pressure (CPAP) as an alternative method for assisted ventilation. Within 24 hours the boy accepted the nasal mask and symptoms such as dyspnea and sweating disappeared. Respiratory movements became regular and oxygen saturation increased. Nasal mask CPAP may serve as an alternative treatment of bilateral diaphragmatic paralysis in infants, thereby avoiding tracheotomy or long-term mechanical ventilation.

  20. Unusual cause of brachial palsy with diaphragmatic palsy.

    Science.gov (United States)

    Gupta, Vishal; Pandita, Aakash; Panghal, Astha; Hassan, Neha

    2018-05-12

    We report a preterm neonate born with respiratory distress. The neonate was found to have diaphragmatic palsy and brachial palsy. The neonate was born by caesarean section and there was no history of birth trauma. On examination, there was bilateral congenital talipes equinovarus and a scar was present on the forearm. The mother had a history of chickenpox during the 16 weeks of pregnancy for which no treatment was sought. On investigation, PCR for varicella was found to be positive in the neonate. © BMJ Publishing Group Ltd (unless otherwise stated in the text of the article) 2018. All rights reserved. No commercial use is permitted unless otherwise expressly granted.

  1. 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.

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

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    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

  3. Acute Intrathoracic Gastric Volvulus due to Diaphragmatic Hernia: A Rare Emergency Easily Overlooked

    Directory of Open Access Journals (Sweden)

    Hyung Hun Kim

    2011-05-01

    Full Text Available Acute intrathoracic gastric volvulus occurs when the stomach undergoes organoaxial torsion in the chest due to either concomitant enlargement of the hiatus or a diaphragmatic hernia. Iatrogenic diaphragmatic hernia can occur after hiatal hernia repair and other surgical procedures, such as nephrectomy, esophagogastrectomy and splenopancreatectomy. We describe a 49-year-old woman who presented to our emergency department with acute moderate epigastric soreness and vomiting. She had undergone extensive gynecologic surgery including splenectomy 1 year before. The chest radiograph obtained in the emergency department demonstrated an elevated gastric air-fluid level in the left lower lung field. An urgent gastroscopy showed twisted structural abnormality of the stomach body. A computed tomography scan demonstrated the distended stomach, located in the left lower hemithorax through a left diaphragmatic defect. Emergent transthoracic repair was performed. Postoperative recovery was uneventful, and the patient did not experience any pain or difficulty with eating.

  4. 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.

  5. Diaphragmatic Hernia Masquerading as Pleural Effusion

    African Journals Online (AJOL)

    As many as 30% of diaphragmatic hernias present late.[1] We present an unusual case report of a late presentation of isolated diaphragmatic injury, after apparently minor blunt trauma, which was initially misdiagnosed as pleural effusion. CASE REPORT. A 40-year-old man slipped and fell against the edge of his bath tub.

  6. Traumatic diaphragmatic hernias: Retrospective analysis

    Directory of Open Access Journals (Sweden)

    J.P.A. Sousa

    2006-05-01

    Full Text Available Aims: This study classifies cases of traumatic diaphragmatic hernias (TDH in patients admitted to the Intensive Care Unit (ICU of the Coimbra University Hospitals (HUC from 1990 to 2004. Methods: Retrospective analysis of 34 cases of TDH, studying anatomical location, place and time of diagnosis, complementary tests aiding diagnosis, herniated organs, associated traumatism, morbidity and mortality. Results: Twenty-eight male and six female patients with an average age of 40.5 years ± 20.5, average SAPS score 38.8. Average lenght of stay was 19.1 ± 13.6 days, all suffered from closed traumatism and were put on artificial ventilation. The left-side diaphragm was more frequently affected (94.1% then the right. Diagnosis in 19 cases was made up in the first six hours following the diagnosis of traumatism, in four cases within 12 hours and in the remaining cases between 48 hours and 16 years after traumatism. In 13 patients the diagnosis was established intra-operatively. The stomach was typically one of the herniated organs. The most frequently associated lesions at the thoracic level were pulmonary contusion, haemothorax and pneumothorax, and at the abdominal level, haemoperitoneum and splenic lesion. The rates for complications and mortality were 55.8% and 11.7% respectively. Conclusions: TDH mainly occurs on the left side through closed thoraco-abdominal trauma following road traffic accidents. This group of patients, on average younger than others admitted to ICU, presents a longer average hospitalisation period, but has lower rates of mortality and lower SAPS severity scores. The most commonly herniated organ was the stomach and the most frequently encountered lesions were cranial-encephalic, splenic and pleural traumatisms. Pre-operative diagnosis of diaphragmatic injuries is difficult and a high index of clinical suspicion is needed after thoracoabdominal trauma. This diagnosis should always be considered a possibility in

  7. 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.).

  8. 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.)

  9. Renal artery entrapment by the diaphragmatic crus

    International Nuclear Information System (INIS)

    Thony, F.; Baguet, J.-P.; Rodiere, M.; Sessa, C.; Janbon, B; Ferretti, G.

    2005-01-01

    The aim of this study is to describe renal artery entrapment (RAE) by the diaphragmatic crus and to elucidate the diagnostic and therapeutic approach to this entity. From 1995 to 2002, 15 patients (mean age 65) were found to have a RAE. They were investigated by CT scan (n=14) and/or MRA (n=2) for hypertension (n=7), chronic renal insufficiency (n=4) or aneurysms (n=4). The right (n=11) or the left (n=4) renal artery (RA) was involved. The compression was ostial (n=8) or truncal (n=7), and was ≥50% in eight cases. The course of the RA along the aorta on angiographic views (n=8) or a concentric ostial stenosis in a patient free of atheromatous lesions (n=7) were two findings suggestive of an RAE. Seven RAEs were indicated for treatment but only three were treated, by mean of stenting. Among the latter, two stents were patent at 6-month follow-up and one evolved to restenosis because of a stent fracture. RAEs may be suspected on angiographic views and proved by cross-sectional imaging because of specific imaging features. It is of importance to detect this etiology of RA stenosis because angioplasty with stenting is probably not always advisable. (orig.)

  10. 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).

  11. Assessment and reduction of diaphragmatic tension during hiatal hernia repair.

    Science.gov (United States)

    Bradley, Daniel Davila; Louie, Brian E; Farivar, Alexander S; Wilshire, Candice L; Baik, Peter U; Aye, Ralph W

    2015-04-01

    During hiatal hernia repair there are two vectors of tension: axial and radial. An optimal repair minimizes the tension along these vectors. Radial tension is not easily recognized. There are no simple maneuvers like measuring length that facilitate assessment of radial tension. The aims of this project were to: (1) establish a simple intraoperative method to evaluate baseline tension of the diaphragmatic hiatal muscle closure; and, (2) assess if tension is reduced by relaxing maneuvers and if so, to what degree. Diaphragmatic characteristics and tension were assessed during hiatal hernia repair with a tension gage. We compared tension measured after hiatal dissection and after relaxing maneuvers were performed. Sixty-four patients (29 M:35F) underwent laparoscopic hiatal hernia repair. Baseline hiatal width was 2.84 cm and tension 13.6 dag. There was a positive correlation between hiatal width and tension (r = 0.55) but the strength of association was low (r (2) = 0.31). Four different hiatal shapes (slit, teardrop, "D", and oval) were identified and appear to influence tension and the need for relaxing incision. Tension was reduced by 35.8 % after a left pleurotomy (12 patients); by 46.2 % after a right crural relaxing incision (15 patients); and by 56.1 % if both maneuvers were performed (6 patients). Tension on the diaphragmatic hiatus can be measured with a novel device. There was a limited correlation with width of the hiatal opening. Relaxing maneuvers such as a left pleurotomy or a right crural relaxing incision reduced tension. Longer term follow-up will determine whether outcomes are improved by quantifying and reducing radial tension.

  12. 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.

  13. A ventriculotomia apical esquerda para tratamento cirúrgico da estenose mitral congênita The surgical treatment of congenital mitral stenosis through a left ventriculotomy

    Directory of Open Access Journals (Sweden)

    Miguel Barbero-Marcial

    1991-12-01

    Full Text Available Entre junho de 1987 e outubro de 1990, nove pacientes consecutivos, portadores de estenose mitral congênita (EMC foram submetidos a correção cirúrgica. Sete tinham valva mitral em paráquedas e dois, outras formas complexas de estenoses. Em todos, a via de abordagem foi a ventriculotomia apical esquerda, sendo dividido, primeiramente, o músculo papilar; depois, as cordas e, finalmente, as cúspides. As lesões associadas foram corrigidas prévia ou simultaneamente. Todos os pacientes tiveram boa evolução imediata. Houve um óbito tardio não relacionado. O estudo ecocardiográfico seriado pós-operatório mostrou adequada função ventricular esquerda. Conclui-se que esta via é de escolha para tratar lesões estenóticas congênitas complexas da valva mitral.From June 1987 to October 1990, nine patients with congenital mitral stenosis (CMS underwent surgical correction through an apical left ventriculotomy. Seven patients had parachute mitral valve and two had other forms of CMS. The surgical treatment of the mitral valve apparatus starts from below: first the papillary muscle is split and the cordae are divided and fenestrated. Then, the commissurotomies were performed through the ventricles aspect of the mitral valve. Associated anomalies were corrected simultaneously. There was no in-hospital death and only one late death (nonrelated. The echocardiography showed non significant residual stenosis and normal global function of the left ventricle. In conclusion, the appical left ventriculotomy is a good approach for treatment of CMS.

  14. 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.

  15. Sinus cut-off sign: A helpful sign in the CT diagnosis of diaphragmatic rupture associated with pleural effusion

    International Nuclear Information System (INIS)

    Kaya, Seyda Ors; Karabulut, Nevzat; Yuncu, Gokhan; Sevinc, Serpil; Kiroglu, Yilmaz

    2006-01-01

    The objective of our study was to describe the 'sinus cut-off' sign at CT in the diagnosis of diaphragmatic rupture in patients with blunt abdominal trauma complicated with pleural effusion, and evaluate its utility in an experimental model. Between January 2004 and March 2005, we observed an unusual interruption of costophrenic sinus at CT in three patients with blunt abdominal trauma accompanied with pleural effusion. This observation prompted us to evaluate the utility of this sign in an experimental model. Laparotomically, we created 2 cm diapragmatic lacerations at each hemidiaphragm in two rabbits and pushed up the abdominal viscera with omentum through the defect. To simulate hemothorax, we also injected 5-10 mL of diluted contrast material into the pleural space. Using a dual-slice helical CT scanner, limited thoracoabdominal CT examination was performed before and after injection of intrapleural contrast material. The images were analyzed for the presence of CT signs for diaphragmatic injury. The left posterior costophrenic sulcus was interrupted in all of the three patients with left pleural effusion. While it was associated with other findings of diaphragmatic injury, the 'sinus cut-off sign' was the sole finding in one patient. The sinus cut-off sign was observed on the CT scans of 100% of the rabbits with a left and right sided diaphragmatic rupture. The 'sinus cut-off sign' is useful and can increase the CT detection of acute diaphragmatic injury associated with pleural effusion

  16. 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.

  17. Delayed diaphragmatic herniation masquerading as a complicated parapneumonic effusion.

    Science.gov (United States)

    Tsang, J; Ryan, F

    1999-01-01

    Injury to the diaphragm following blunt or penetrating thoracoabdominal 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.

  18. 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.

  19. 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.

  20. 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.)

  1. 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

  2. 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

  3. 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.

  4. Lung MRI and impairment of diaphragmatic function in Pompe disease

    DEFF Research Database (Denmark)

    Wens, Stephan C A; Ciet, Pierluigi; Perez-Rovira, Adria

    2015-01-01

    Background: Pompe disease is a progressive metabolic myopathy. Involvement of respiratory muscles leads to progressive pulmonary dysfunction, particularly in supine position. Diaphragmatic weakness is considered to be the most important component. Standard spirometry is to some extent indicative ...... tool to visualize diaphragmatic dynamics in Pompe patients and to study chest-walland diaphragmatic movements in more detail. Our data indicate that diaphragmatic displacement may be severely disturbed in patients with Pompe disease....

  5. 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.

  6. 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

  7. Causes of congenital unilateral pulmonary hypoplasia

    International Nuclear Information System (INIS)

    Currarino, G.; Williams, B.; Children's Medical Center, Dallas, TX

    1985-01-01

    A review of the roentgenograms and clinical records of 33 children with primary congenital underdevelopment of one lung showed that 9 patients had simple pulmonary hypoplasia, 8 had anomalous venous return to the right atrium or the inferior vena cava (scimitar syndrome), 7 had an absence of ipsilateral pulmonary artery, 7 had an accessory diaphragm, and 2 had a pulmonary sequestration adjacent to a small diaphragmatic hernia. (orig.)

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

    International Nuclear Information System (INIS)

    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. (author)

  9. 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.

  10. 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.

  11. Laparoscopic Treatment of a Rare Right Diaphragmatic Rupture with Small Bowel Herniation after Blunt Thoracic Trauma

    Directory of Open Access Journals (Sweden)

    H. Hoffmann

    2010-01-01

    Full Text Available Blunt traumatic diaphragmatic rupture (BTDR is a life-threatening condition with an incidence from 0,8%–1,6% in blunt trauma, mostly located on the left side. The main prognostic factors are severe side injuries and the delay of diagnosis. We present a rare case of a 68-year-old female, with an isolated right diaphragm rupture. The diagnosis was done with a delay of 4 days by thoracic radiographs, which showed a herniation of small bowel into the right thoracic cavity. A reposition of the small bowel and a closure of the diaphragmatic defect by running suture were carried out laparoscopicly. Although large prospective studies concerning the outcome of laparoscopic approach to right BTDR are still missing, we could show, that laparoscopy can be performed safely in right traumatic diaphragm rupture.

  12. Therapeutic effects of diaphragmatic plication for acquired unilateral non-malignant diaphragm paralysis in twenty patients

    Directory of Open Access Journals (Sweden)

    Reza Bagheri

    2013-12-01

    Full Text Available Background: Acquired paralysis of the diaphragm is a condition caused by trauma, surgical injuries, (lung cancer surgery, esophageal surgery, cardiac surgery, thoracic surgery, and is sometimes of an unknown etiology. It can lead to dyspnea and can affect ventilatory function and patients activity. Diaphragmatic plication is a treatment method which decreases inconsistent function of diaphragm. The aim of this study is to evaluate the outcome of diaphragmatic plication in patients with acquired unilateral non-malignant diaphragmatic paralysis. Methods: From 1991 to 2011, 20 patients with acquired unilateral diaphragmatic paralysis who underwent surgery enrolled in our study in Ghaem Hospital Mashhad University of Medical Science. Patients were evaluated in terms of age, sex, BMI, clinical symptoms, dyspnea score (DS, etiology of paralysis, diagnostic methods, respiratory function tests and complication of surgery. Some tests including dyspnea score were carried out again six months after surgery. We evaluated patients with SPSS version 11.5 and Paired t-test or nonparametric equivalent. Results: Twenty patients enrolled in our study. 14 were male and 6 were female. The mean age was 58 years and the average time interval between diagnosis to surgical treatment was 38.3 months. Acquired diaphragmatic paralysis was mostly caused by trauma (in 11 patients and almost occurred on the left side (in 15 patients. Diagnostic methods included chest x-ray, CT scan, ultrasonography and sniff. Test prior to surgery the average FVC was 41.4±7 percent and the average FEV1 was 52.4±6 percent and after surgery they were 80.1±8.6 percent and 74.4±1 percent respectively. The average increase in FEV1 and FVC 63.4±4, 61.1±7.8. Performing surgery also leads to a noticeable improvement in dyspnea score in our study. Conclusion: In patients with acquired unilateral non-malignant diaphragm paralysis diaphragmatic plication is highly recommended due to the

  13. Diaphragmatic height index: new diagnostic test for phrenic nerve dysfunction.

    Science.gov (United States)

    Pornrattanamaneewong, Chaturong; Limthongthang, Roongsak; Vathana, Torpon; Kaewpornsawan, Kamolporn; Songcharoen, Panupan; Wongtrakul, Saichol

    2012-11-01

    The diaphragmatic height index (DHI) was developed to measure the difference in diaphragm levels. The purpose of this study was to set definite DHI values and test the accuracy of these values for use as a new diagnostic test for phrenic nerve dysfunction. All data for this study were obtained from medical charts and retrospectively reviewed. One hundred sixty-five patients with brachial plexus injury who had undergone nerve transfers between 2005 and 2008 were divided into Groups A and B. Group A consisted of 40 patients (mean age 28.0 years) who had sustained concomitant injury of the brachial plexus and phrenic nerves. Patients in Group A1 had right phrenic nerve injury and those in Group A2 had left phrenic nerve injury. Intraoperative direct electrical stimulation of the phrenic nerve was considered the gold standard in assessing nerve function in all patients with brachial plexus injury. Group B consisted of 125 patients (mean age 28.7 years) with brachial plexus injury and normal phrenic nerve function. Group C, the control group, consisted of 80 patients with nonbrachial plexus injury (mean age 34.0 years) who had undergone other kinds of orthopedic operations between April and June 2009. Standard posteroanterior chest radiographs were blindly interpreted using the Siriraj inhouse picture archiving and communication system in all 245 patients in the study. First, a reference line (R line) was drawn along the inferior endplate of T-10. Then, 2 lines (lines A and B) were drawn through the highest point of each diaphragm and parallel to the R line. The difference between these 2 lines divided by the height of T-10 was defined as the DHI. The cutoff points of the DHI for diagnosing right and left phrenic nerve dysfunction were analyzed with a receiver operating characteristic curve. The accuracy of these DHI values was then evaluated. The DHI in Group C was 0.64 ± 0.44, slightly higher than the DHI in Group B, with no significant difference. Diaphragmatic

  14. Congenital cystic eyeball

    Directory of Open Access Journals (Sweden)

    Gupta V

    1990-01-01

    Full Text Available A rare case of histopathologically proved case of congenital cystic eye in a one day old girl is described. It was an unusually large cystic mass bulging forwards stretching the upperlid. There was no rudimentary eyeball in the orbit. The cystic eye′s predilection for the left eye has been pointed out for the first time in this article.

  15. 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 ...

  16. 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.

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

    International Nuclear Information System (INIS)

    Song, Jae Min; Yoon, Jung Won; Kim, Jae Wook; Chung, Woo Kyoung; Chung, Hee Sun; Kim, Joo Hyung; Choi, Jun Ho; Kim, Seung Ho

    2007-01-01

    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. Mesentro-axial gastric volvulus in a morgagni diaphragmatic hernia in an old female

    International Nuclear Information System (INIS)

    Fansur, M.; Atiq, S.

    2011-01-01

    A Morgagni diaphragmatic hernia is a rare congenital anteromedial defect in adults (5%). Symptoms of visceral herniation are attributable to the organs involved. Imaging is the mainstay of diagnosis either in an asymptomatic person or in a person with respiratory and/or gastrointestinal symptoms, ultimately requiring surgical intervention because of the risk of incarceration. We present a rare case of 80 years old female with vague upper abdominal pain and recurrent vomiting. An anteromedial parasternal defect was established on conventional as well as on cross-sectional imaging in right hemi diaphragm through which the upper abdominal contents were protruding in the right hemi thorax, all enclosed in a peritoneal sac. The herniation resulted in mesentro-axial gastric volvulus. Due to age and anaesthesia risk, patient was conservatively managed. (author)

  19. [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.

  20. 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

  1. Right heart ejection fraction, ventricular volumes, and left to right cardiac shunt measurements with a conventional Anger camera in congenital heart disease

    International Nuclear Information System (INIS)

    Cook, S.A.; Go, R.T.; MacIntyre, W.J.; Moodie, D.S.; Houser, T.S.; Ceimo, J.; Underwood, D.; Yiannikas, J.

    1982-01-01

    The object of this investigation was to demonstrate that a conventional Anger camera can be used for measurement of right heart ejection fraction, ventricular volumes and left to right shunts in routine clinical determinations. The automatic selection of chamber and lung regions, the recirculation subtraction of recirculation, and the filtering of the right heart ejection fraction dilution curves are all done entirely without operator intervention. Thus, this entire evaluation has been incorporated into the routine procedures of patient care

  2. 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.)

  3. 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.

  4. Evaluation by N-terminal prohormone of brain natriuretic peptide concentrations and ross scoring of the efficacy of digoxin in the treatment of heart failure secondary to congenital heart disease with left-to-right shunts.

    Science.gov (United States)

    Elkiran, Ozlem; Sandikkaya, Ayse; Kocak, Gulendam; Karakurt, Cemsit; Taskapan, Cagatay; Yologlu, Saim

    2013-10-01

    This study aimed to evaluate the effectiveness of digoxin in children with heart failure secondary to left-to-right shunt lesions and normal left ventricular systolic function. The study registered 37 such patients (ages 10 days to 24 months, groups 1 and 2) and used 20 healthy children as a control group (group 3). Left ventricular systolic function, as assessed by conventional echocardiography, was normal in all the subjects. Congestive heart failure was diagnosed by clinical evaluation and modified Ross scoring. Plasma N-terminal prohormone of brain natriuretic peptide (NT-proBNP) concentrations and complete blood counts were assessed in all the children. Group 1 was treated with digoxin, enalapril, and furosemide and group 2 with enalapril and furosemide. Approximately 1 month after starting treatment, the patients were reevaluated by physical and echocardiographic examinations, modified Ross scoring, plasma NT-proBNP concentrations, and complete blood counts. The pre- and posttreatment Ross scores of group 1 (p = 0.377) and group 2 (p = 0.616) did not differ significantly. The NT-proBNP values in both groups decreased after treatment (p = 0.0001). The pre- and posttreatment NT-proBNP values did not differ significantly in group 1 (p = 0.094)) and group 2 (p = 0.372). The pretreatment NT-proBNP values in groups 1 and 2 (p = 0.0001) were significantly higher than in the control group (p = 0.003). A smaller difference was observed between posttreatment NT-proBNP values in group 1 and the control group (p = 0.045). We found no significant difference between the posttreatment NT-proBNP values of group 2 and those of the control group (p = 0.271). The study showed that both treatments currently used to treat heart failure secondary to congenital heart disease with left-to-right shunts and preserved left ventricular systolic function are effective and do not differ significantly. Thus, digoxin does not provide any extra benefit in the treatment of such patients.

  5. Fractured Ribs and the CT Funky Fat Sign of Diaphragmatic Rupture

    Directory of Open Access Journals (Sweden)

    Iclal Ocak

    2016-01-01

    Full Text Available Traumatic diaphragmatic rupture remains a diagnostic challenge for both radiologists and surgeons. In recent years, multidetector CT has markedly improved the diagnosis of diaphragmatic injury in polytrauma patients. Herein, we describe two cases of subacute presentation of traumatic diaphragmatic rupture from a penetrating rib fracture and subsequent intrathoracic herniation of omental fat, representing the CT “funky fat” sign.

  6. 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 nerve stimulator is a device that provides electrical stimulation of a patient's phrenic nerve to...

  7. 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 ...

  8. Normal appearance and size of the diaphragmatic crura in children: CT evaluation

    International Nuclear Information System (INIS)

    Brengle, M.; Cohen, M.D.; Katz, B.

    1996-01-01

    Purpose. The objectives of the study were to document the normal CT appearance and size of the crura of the diaphragm in children. Materials and methods. The CT scans of 80 children (0-15 years) were reviewed. The children were divided into eight age groups. The maximal transverse diameters of the right and left crura were measured. They were normalized by comparison with the transverse and anterior-posterior diameters of the 12th thoracic vertebra (T12) and the transverse abdominal diameter at T12. The crura were also evaluated as to whether their contour was smooth or nodular. Results. The diaphragmatic crura of smaller children appear large, relative to body size and the diameters of the T12 vertebral body, compared with those in older children. Crural width does not increase significantly with age. Additionally, the crura were found to have a greater tendency to be nodular in appearance in children under the age of 5 years than in older children. Conclusion. Diaphragmatic crura are more nodular and larger relative to body size in younger children. (orig.). With 6 figs., 2 tabs

  9. 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 ...

  10. Congenital Abnormalities

    Science.gov (United States)

    ... tube defects. However, there is also a genetic influence to this type of congenital anomaly. Unknown Causes The vast majority of congenital abnormalities have no known cause. This is particularly troubling for parents who plan to have more children, because there is no way to predict if ...

  11. [Chronic recurrent volvulus of the colonic splenic flexure associated with the eventration of left diaphragm].

    Science.gov (United States)

    Kim, Hee Sun; Yoo, Jeong Seon; Han, Seok Joo; Park, Hyojin

    2007-01-01

    The eventration of diaphragm is usually found incidentally on chest X-ray or sometimes presented as acute gastric volvulus. However, colonic volvulus on splenic flexure area complicated by diaphragmatic eventration is extremely rare. A 25 year old man complained of upper abdominal pain for three days. He had a history of brain injury during infant period, and had epilepsy and mental retardation. Plain chest X-ray showed left diaphragmatic eventration and marked dilatation of colon on splenic flexure area which had not been changed for last three years. Barium enema showed bird beak appearance on distal colon near the splenic flexure. Colonoscopic reduction failed. After decompression with rectal and nasogastric tubes, colonic volvulus was relieved. To prevent the recurrence of volvulus, we performed segmental resection of left colon including splenic flexure area and repaired the left diaphragmatic eventration. After the operation, the patient had no further recurrent episode of volvulus although ileus persisted.

  12. 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

  13. 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

  14. Neuralgic Amyotrophy: A Rare Cause of Bilateral Diaphragmatic Paralysis

    Directory of Open Access Journals (Sweden)

    Neil Shinder

    1998-01-01

    Full Text Available Neuralgic amyotrophy, also known as brachial neuritis, is a well described clinical entity. Diaphragmatic dysfunction, as a result of phrenic nerve root involvement (cervical roots 3 to 5, is an uncommon, but increasingly recognized association. The case of a previously healthy 61-year-old woman who, after a prodrome of neck and shoulder discomfort, presented with severe orthopnea is described. Pulmonary function and electrophysiological studies led to a diagnosis of bilateral diaphragmatic paralysis. The patient's clinical course and the exclusion of other nerve entrapment syndromes and neurological disorders strongly favoured the diagnosis of neuralgic amyotrophy.

  15. 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.

  16. Congenital rubella

    Science.gov (United States)

    ... that usually closes shortly after birth remains open ( patent ductus arteriosus ) Narrowing of the large artery that ... prior to pregnancy can prevent congenital rubella. Pregnant women who have not had the vaccine should avoid ...

  17. Extra Lobes of Liver and Congenital Anomalies of Diaphragm in Children

    Directory of Open Access Journals (Sweden)

    I.P. Zhurylo

    2014-09-01

    Full Text Available The literature data on hepatic congenital anomalies in children are summarized in this article. Three clinical observations of transposition of extra lobe of the liver (ELL into the thoracic cavity in children were analyzed. The true diaphragmatic hernia was found in all cases. Clinical manifestations of this disease depend on the severity of the compression of mediastinum organs. Indications for surgical correction were determined individually. ELL move into the abdominal cavity, excision of the hernia sac and alloplasty of the diaphragmatic defect were performed for one patient. Possible mechanisms for the formation of these complex congenital malformations were discussed based on the comparison of clinical data with the stages of embryogenesis liver, diaphragm and heart.

  18. 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.

  19. 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 ...

  20. 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 ...

  1. 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)

  2. Diaphragmatic eventration complicated by gastric volvulus with perforation

    OpenAIRE

    Gupta, V; Chandra, A; Gupta, P

    2012-01-01

    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.

  3. 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

  4. 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.

  5. 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.

  6. 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.

  7. 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.

  8. 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

  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. Diaphragmatic lymphatic vessel behavior during local skeletal muscle contraction.

    Science.gov (United States)

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

    2015-02-01

    The mechanism through which the stresses developed in the diaphragmatic tissue during skeletal muscle contraction sustain local lymphatic function was studied in 10 deeply anesthetized, tracheotomized adult Wistar rats whose diaphragm was exposed after thoracotomy. To evaluate the direct effect of skeletal muscle contraction on the hydraulic intraluminal lymphatic pressures (Plymph) and lymphatic vessel geometry, the maximal contraction of diaphragmatic fibers adjacent to a lymphatic vessel was elicited by injection of 9.2 nl of 1 M KCl solution among diaphragmatic fibers while Plymph was recorded through micropuncture and vessel geometry via stereomicroscopy video recording. In lymphatics oriented perpendicularly to the longitudinal axis of muscle fibers and located at skeletal muscle contraction (Dmc) decreased to 61.3 ± 1.4% of the precontraction value [resting diameter (Drest)]; however, if injection was at >900 μm from the vessel, Dmc enlarged to 131.1 ± 2.3% of Drest. In vessels parallel to muscle fibers, Dmc increased to 122.8 ± 2.9% of Drest. During contraction, Plymph decreased as much as 22.5 ± 2.6 cmH2O in all submesothelial superficial vessels, whereas it increased by 10.7 ± 5.1 cmH2O in deeper vessels running perpendicular to contracting muscle fibers. Hence, the three-dimensional arrangement of the diaphragmatic lymphatic network seems to be finalized to efficiently exploit the stresses exerted by muscle fibers during the contracting inspiratory phase to promote lymph formation in superficial submesothelial lymphatics and its further propulsion in deeper intramuscular vessels. Copyright © 2015 the American Physiological Society.

  11. Laparoscopic management of diaphragmatic endometriosis by three different approaches.

    Science.gov (United States)

    Roman, Horace; Darwish, Basma; Provost, Delphine; Baste, Jean-Marc

    2016-08-01

    To report our three surgical approaches in the management of diaphragmatic endometriosis. Video article presenting laparoscopic surgical techniques, with and without robotic assistance. University hospital. Nulliparas with deep endometriosis associated with multiple endometriosis lesions of the diaphragm. Laparoscopic approach in women who present with small black-pigmented diaphragmatic lesions, with or without infiltration of the diaphragm, which are ablated using plasma energy. Robotic-assisted laparoscopic route in larger deep infiltrating implants, which are resected. To avoid phrenic nerve injury, robotic-assisted thoracoscopy is preferred in large lesions involving the central tendon of the diaphragm. The steps of each technique are emphasized. Surgical technique reports in anonymous patients are exempted from ethical approval by the Institutional Review Board. Seven patients have been managed by these procedures from July 2015 to March 2016. Patients' functional outcomes were uneventful, with no phrenic nerve palsy or residual chest and right shoulder pain. By combining resection and ablation techniques, the laparoscopy and thoracoscopy route, conventional and robotic-assisted minimally invasive approach, we offer a surgical strategy that is as conservative as possible, with an aim to limit postoperative adhesions between the liver and the diaphragm, and avoid diaphragmatic paralysis. Copyright © 2016 American Society for Reproductive Medicine. Published by Elsevier Inc. All rights reserved.

  12. 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.

  13. Imaging diagnosis of congenital heart disease with single coronary artery

    International Nuclear Information System (INIS)

    Zhu Ming; Li Yuhua; Zhong Yumin; Sun Aimin

    2003-01-01

    Objective: To report 56 cases of congenital heart disease with congenital single coronary artery and to evaluate the imaging diagnostic techniques. Methods: All 56 patients with congenital single coronary artery underwent angiocardiography. Contrast enhancement magnetic resonance angiography (CE MRA) was performed in 4 cases. 48 cases were confirmed by operation. Results: In these 56 cases, single left coronary artery was found in 44 cases and single right coronary artery was found in 12. Conclusion: Congenital heart disease with congenital single coronary artery is not rare and correct diagnosis is very important for surgery

  14. 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.

  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 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.

  17. 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

  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. 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.

  20. Isolated Crural Hematoma Mimicking Retroperitoneal Lymphadenopathy, A Unique Sign of Traumatic Diaphragmatic Rupture: A Case Report

    Directory of Open Access Journals (Sweden)

    Abhishek Jha

    2014-09-01

    Full Text Available Diaphragmatic injury following blunt thoracoabdominal trauma is rare and is usually associated with key radiological features like dependent viscera sign, collar sign, diaphragmatic thickening and defects. It may also be associated with secondary signs like intrathoracic herniation of abdominal viscera. Diaphragmatic crura, which are attached to the upper lumbar vertebra represent prominently thickened folds along the posterior diaphragm, are usually inconspicuous on routine Computed Tomography (CT scans. We present a case of a young patient who sustained a motor vehicle accident and developed difficulty in breathing. CT scan of the patient revealed bilateral crural hematomas, with splenic and renal lacerations and no other sign of diaphragmatic injury. The patient was operated and blunt diaphragmatic rupture was confirmed at surgery.

  1. 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

  2. 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...

  3. Congenital syphilis

    International Nuclear Information System (INIS)

    Lee, Sang Wook; Kim, Kyung Soo; Hur, Don

    1983-01-01

    In recent years, marked increase in incidence of congenital syphilis has occurred throughout the world due to changes in social norms and development of penicillin-resistant strains. Early diagnosis plays an important role in congenital syphilis as the clinical manifestations may simulate many other conditions in the paediatric age group. The authors analyzed 52 cases of congenital syphilis admitted to the department of paediatrics, Chosun University Hospital, clinically and radiologically. Among them, 18 cases were born in this hospital and 34 cases were admitted from OPD, during the period of 8 years from January, 1975 to December, 1982. The results obtained were as follows; 1. In 28 of 34 cases (82%), the first clinical manifestations were below the age of 3 months. 2. Among the 52 cases, a male predominance was observed with a male to female ratio of 2 : 1. 3. The serologic test (VDRL) of the 52 studied cases showed reactive response in 49 cases (94%), and that of syphilitic mothers except 6 cases, reactive in all studied cases. 4. The major manifestations of the 52 cases were bone tenderness (12%) and swelling of the joints (7%) in skeletal system, hepatosplenomegaly (79%) and skin lesions (73%) in extraskeletal one. 5. The radiological skeletal changes were detected in 45 of 52 cases (87%), and the commonest findings were detected in 45 of 52 cases (87%), and the commonest findings were metaphysitis (83%) and periostitis (81%). The most characteristic type of metaphysitis were transverse trophic line (74%) and zone of rarefaction (65%). 6. The commonest bones to be affected were growing metaphyses of the long bones, particulary about the wrist and the knee. The order of frequency were radius (80%), uina (80%), tibia (77%), femur (69%) and humerus (40%)

  4. Repair of aorto-left ventricular tunnel arising from the left sinus of valsalva.

    Science.gov (United States)

    Nezafati, Mohammad Hassan; Maleki, Mahmood Hosseinzadeh; Javan, Hadi; Zirak, Nahid

    2010-05-01

    Aortico-left ventricular tunnel (ALVT) is a rare congenital cardiac defect that bypasses the aortic valve via a para-valvular connection from the left ventricle to the aorta. In most cases, the tunnel arises from the right aortic sinus. In this case report, we are presenting a case of ALVT, of which the aortic orifice arose from the left aortic sinus, requiring special attention to avoid the left coronary artery injury at the time of surgical repair.

  5. Hiatal hernia and diaphragmatic eventration in a leopard (Panthera pardus).

    Science.gov (United States)

    Kearns, K S; Jones, M P; Bright, R M; Toal, R; DeNovo, R; Orosz, S

    2000-09-01

    A 1-yr-old male leopard (Panthera pardus) presented for intermittent anorexia, emaciation, and generalized muscle wasting. Plain radiographs, ultrasonography, and esophageal endoscopy led to a diagnosis of diaphragmatic eventration with probable concurrent hiatal hernia. An exploratory laparotomy confirmed both diagnoses, and surgical repair and stabilization were performed. After surgery, the leopard was maintained on small liquid meals for 4 days, with a gradual return to normal diet over 2 wk. By 4 wk after surgery, the leopard was eating well and gaining weight, and it showed no recurrence of clinical signs for 2 yr subsequently, becoming mildly obese.

  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. Diaphragmatic thickness ratio (inspiratory/expiratory) as a diagnostic method of diaphragmatic palsy associated with interescalene block.

    Science.gov (United States)

    López Escárraga, V M; Dubos España, K; Castillo Bustos, R H; Peidró, L; Sastre, S; Sala-Blanch, X

    2018-02-01

    Diaphragmatic paralysis is a side-effect associated with interscalene block. Thickness index of the diaphragm muscle (inspiratory thickness/expiratory thickness) obtained by ultrasound has recently been introduced in clinical practice for diagnosis of diaphragm muscle atrophy. Our objective was to evaluate this index for the diagnosis of acute phrenic paresis associated with interscalene block. We designed an observational study in 22 patients scheduled for shoulder arthroscopy. Spirometry was performed (criteria of phrenic paresis was a decrease in FVC and FEV1 ≥20%). Ultrasound apposition zone was assessed in anterior axillary line and diaphragmatic displacement was evaluated on inspiration and expiration (number of intercostal spaces; phrenic paresis considered a reduction ≥25%) and thickness of the diaphragm muscle (a phrenic paresis was considered an index block at C5-C6 with 20ml of 0.5% ropivacaine. Twenty-one patients (95%) presented phrenic nerve block according to one or more of the methods used. One patient did not show any symptoms or signs suggestive of phrenic paralysis and was excluded. All the patients presented phrenic paresis based on the diaphragmatic thickness index, with the pre-block index being 1.8±0.5 and post-block of 1.05±0.06 (Pblock (from 1.9±0.5 intercostal spaces to 0.5±0.3; Pblock. This index does not require a baseline pre-assessment. Copyright © 2017 Sociedad Española de Anestesiología, Reanimación y Terapéutica del Dolor. Publicado por Elsevier España, S.L.U. All rights reserved.

  8. Drainage of pleural effusion improves diaphragmatic function in mechanically ventilated patients.

    Science.gov (United States)

    Umbrello, Michele; Mistraletti, Giovanni; Galimberti, Andrea; Piva, Ilaria R; Cozzi, Ottavia; Formenti, Paolo

    2017-03-01

    Pleural effusion adversely affects the pressuregenerating capacity of the diaphragm. It uncouples the lung and chest wall, which may result in diaphragmatic dysfunction. Information on the effects of effusion drainage on diaphragmatic function is limited, but several studies report relief of dyspnoea after drainage, which was attributed to improved diaphragmatic mechanics, even if this issue was never formally addressed. To investigate the effect of drainage of unilateral pleural effusion on diaphragmatic function. In a prospective twostep protocol (at baseline and after drainage of effusion), we conducted a spontaneous breathing trial in fourteen critically ill, mechanically ventilated patients undergoing pressure support ventilation. We used ultrasonography of the ipsilateral hemidiaphragm to evaluate and record respiratory displacement and thickening during tidal and maximal breathing efforts. We recorded and analysed airway pressures, respiratory system compliance, vital capacity, indices of respiratory effort and arterial blood gases. After drainage of the effusion, the respiratory rate decreased and tidal volume increased, but haemodynamic parameters were unaffected and oxygenation levels showed a non-significant increase. Drainage was associated with significant decreases in indices of respiratory drive and the maximal pressure generated by the respiratory muscles, as well as an increased compliance of the respiratory system. Diaphragmatic displacement and thickening significantly increased after drainage. We found there was a significant correlation between the volume of the effusion drained and the increase in tidal diaphragmatic thickening. Drainage of a unilateral pleural effusion during weaning from mechanical ventilation improves diaphragmatic contractile activity and respiratory system performance.

  9. 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.

  10. Genetics Home Reference: congenital bile acid synthesis defect type 1

    Science.gov (United States)

    ... result in softening and weakening of the bones ( rickets ) in some individuals. If left untreated, congenital bile ... Encyclopedia: Cholestasis Health Topic: Liver Diseases Health Topic: Rickets Genetic and Rare Diseases Information Center (1 link) ...

  11. 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.

  12. 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.

  13. 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.

  14. 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.

  15. Congenital coronary artery fistula

    International Nuclear Information System (INIS)

    Oh, Yeon Hee; Kim, Hong; Zeon, Seoc Kil; Suh, Soo Jhi

    1986-01-01

    Congenital coronary artery fistula (CCAF) is communication of a coronary artery or its main branch with one of the atria or ventricles, the coronary sinus, the superior vena cava, or the pulmonary artery. In Korean peoples, only 4 cases of the CCAF were reported as rare as worldwide and authors want to report another case of CCAF, confirmed by operation. 10-year-old girl shows a fistula between sinus node artery of the right coronary artery and right atrium on root aortogram with left-to-right shunt and Qp/Qs=1.58, in which simple ligation of the sinus node artery from right coronary artery was performed. All of the 5 Korean CCAF (4 were previously reported and 1 of authors) were originated from right coronary artery, and of which 4 were opening into right ventricle and 1 of authors were into right atrium. Associated cardiac anomaly was noted in only 1 case as single coronary artery. Ages were from 9 months of age to 10 years old and no adult left case were found. 3 were female and 2 were male patients.

  16. [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.

  17. 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

  18. 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.

  19. Identifying decreased diaphragmatic mobility and diaphragm thickening in interstitial lung disease: the utility of ultrasound imaging

    Science.gov (United States)

    Santana, Pauliane Vieira; Prina, Elena; Albuquerque, André Luis Pereira; Carvalho, Carlos Roberto Ribeiro; Caruso, Pedro

    2016-01-01

    Objective: To investigate the applicability of ultrasound imaging of the diaphragm in interstitial lung disease (ILD). Methods: Using ultrasound, we compared ILD patients and healthy volunteers (controls) in terms of diaphragmatic mobility during quiet and deep breathing; diaphragm thickness at functional residual capacity (FRC) and at total lung capacity (TLC); and the thickening fraction (TF, proportional diaphragm thickening from FRC to TLC). We also evaluated correlations between diaphragmatic dysfunction and lung function variables. Results: Between the ILD patients (n = 40) and the controls (n = 16), mean diaphragmatic mobility was comparable during quiet breathing, although it was significantly lower in the patients during deep breathing (4.5 ± 1.7 cm vs. 7.6 ± 1.4 cm; p < 0.01). The patients showed greater diaphragm thickness at FRC (p = 0.05), although, due to lower diaphragm thickness at TLC, they also showed a lower TF (p < 0.01). The FVC as a percentage of the predicted value (FVC%) correlated with diaphragmatic mobility (r = 0.73; p < 0.01), and an FVC% cut-off value of < 60% presented high sensitivity (92%) and specificity (81%) for indentifying decreased diaphragmatic mobility. Conclusions: Using ultrasound, we were able to show that diaphragmatic mobility and the TF were lower in ILD patients than in healthy controls, despite the greater diaphragm thickness at FRC in the former. Diaphragmatic mobility correlated with ILD functional severity, and an FVC% cut-off value of < 60% was found to be highly accurate for indentifying diaphragmatic dysfunction on ultrasound. PMID:27167428

  20. Bilateral Diaphragmatic Paralysis in a Patient With Critical Illness Polyneuropathy

    Science.gov (United States)

    Chen, Hsuan-Yu; Chen, Hung-Chen; Lin, Meng-Chih; Liaw, Mei-Yun

    2015-01-01

    Abstract Bilateral diaphragmatic paralysis (BDP) manifests as respiratory muscle weakness, and its association with critical illness polyneuropathy (CIP) was rarely reported. Here, we present a patient with BDP related to CIP, who successfully avoided tracheostomy after diagnosis and management. A 71-year-old male presented with acute respiratory failure after sepsis adequately treated. Repeated intubation occurred because of carbon dioxide retention after each extubation. After eliminating possible factors, septic shock-induced respiratory muscle weakness was suspected. Physical examination, a nerve conduction study, and chest ultrasound confirmed our impression. Pulmonary rehabilitation and reconditioning exercises were arranged, and the patient was discharged with a diagnosis of BDP. The diagnosis of BDP is usually delayed, and there are only sporadic reports on its association with polyneuropathy, especially in patients with preserved limb muscle function. Therefore, when physicians encounter patients that are difficult to wean from mechanical ventilation, CIP associated with BDP should be considered in the differential diagnosis. PMID:26252301

  1. Electromyographic permutation entropy quantifies diaphragmatic denervation and reinnervation.

    Directory of Open Access Journals (Sweden)

    Christopher Kramer

    Full Text Available Spontaneous reinnervation after diaphragmatic paralysis due to trauma, surgery, tumors and spinal cord injuries is frequently observed. A possible explanation could be collateral reinnervation, since the diaphragm is commonly double-innervated by the (accessory phrenic nerve. Permutation entropy (PeEn, a complexity measure for time series, may reflect a functional state of neuromuscular transmission by quantifying the complexity of interactions across neural and muscular networks. In an established rat model, electromyographic signals of the diaphragm after phrenicotomy were analyzed using PeEn quantifying denervation and reinnervation. Thirty-three anesthetized rats were unilaterally phrenicotomized. After 1, 3, 9, 27 and 81 days, diaphragmatic electromyographic PeEn was analyzed in vivo from sternal, mid-costal and crural areas of both hemidiaphragms. After euthanasia of the animals, both hemidiaphragms were dissected for fiber type evaluation. The electromyographic incidence of an accessory phrenic nerve was 76%. At day 1 after phrenicotomy, PeEn (normalized values was significantly diminished in the sternal (median: 0.69; interquartile range: 0.66-0.75 and mid-costal area (0.68; 0.66-0.72 compared to the non-denervated side (0.84; 0.78-0.90 at threshold p<0.05. In the crural area, innervated by the accessory phrenic nerve, PeEn remained unchanged (0.79; 0.72-0.86. During reinnervation over 81 days, PeEn normalized in the mid-costal area (0.84; 0.77-0.86, whereas it remained reduced in the sternal area (0.77; 0.70-0.81. Fiber type grouping, a histological sign for reinnervation, was found in the mid-costal area in 20% after 27 days and in 80% after 81 days. Collateral reinnervation can restore diaphragm activity after phrenicotomy. Electromyographic PeEn represents a new, distinctive assessment characterizing intramuscular function following denervation and reinnervation.

  2. 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

  3. Congenital platelet function defects

    Science.gov (United States)

    ... pool disorder; Glanzmann's thrombasthenia; Bernard-Soulier syndrome; Platelet function defects - congenital ... Congenital platelet function defects are bleeding disorders that cause reduced platelet function. Most of the time, people with these disorders have ...

  4. Congenital Heart Information Network

    Science.gov (United States)

    ... heart defects. Important Notice The Congenital Heart Information Network website is temporarily out of service. Please join ... and Uwe Baemayr for The Congenital Heart Information Network Exempt organization under Section 501(c)3. Copyright © ...

  5. Congenital heart disease

    Science.gov (United States)

    Congenital heart disease (CHD) is a problem with the heart's structure and function that is present at birth. ... Fraser CD, Kane LC. Congenital heart disease. In: Townsend CM Jr, ... Sabiston Textbook of Surgery: The Biological Basis of Modern ...

  6. 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

  7. Congenital Intrahepatic Portosystemic Shunts

    Energy Technology Data Exchange (ETDEWEB)

    Lee, Woong Hee; Kim, Young Tong; Jou, Sung Shick; Shin, Hyeong Cheol [Soonchunhyang University, Asan (Korea, Republic of)

    2008-12-15

    Intrahepatic portosystemic shunts are an anomalous connection between the portal vein and hepatic vein/IVC, which may be either congenital or acquired secondary to liver cirrhosis or portal hypertension. Cases of congenital intrahepatic shunts are usually encountered in children and may spontaneously resolve. We report 5 cases of congenital intrahepatic portosystemic shunts in neonates and an adult

  8. Anaesthesia for the child with congenital heart disease: pointers and ...

    African Journals Online (AJOL)

    Increased pulmonary blood flow (PBF) causes a volume or pressure overload to the ... venous drainage (TAPVD), high left atrial pressure (e.g. hypoplastic left heart ... function. Congenital heart disease (CHD) is the commonest birth defect, with a reported .... Is there valve regurgitation? ... tubing to avoid systemic air emboli.

  9. The Effect of Diaphragmatic Breathing on Attention, Negative Affect and Stress in Healthy Adults

    Directory of Open Access Journals (Sweden)

    Xiao Ma

    2017-06-01

    Full Text Available A growing number of empirical studies have revealed that diaphragmatic breathing may trigger body relaxation responses and benefit both physical and mental health. However, the specific benefits of diaphragmatic breathing on mental health remain largely unknown. The present study aimed to investigate the effect of diaphragmatic breathing on cognition, affect, and cortisol responses to stress. Forty participants were randomly assigned to either a breathing intervention group (BIG or a control group (CG. The BIG received intensive training for 20 sessions, implemented over 8 weeks, employing a real-time feedback device, and an average respiratory rate of 4 breaths/min, while the CG did not receive this treatment. All participants completed pre- and post-tests of sustained attention and affect. Additionally, pre-test and post-test salivary cortisol concentrations were determined in both groups. The findings suggested that the BIG showed a significant decrease in negative affect after intervention, compared to baseline. In the diaphragmatic breathing condition, there was a significant interaction effect of group by time on sustained attention, whereby the BIG showed significantly increased sustained attention after training, compared to baseline. There was a significant interaction effect of group and time in the diaphragmatic breathing condition on cortisol levels, whereby the BIG had a significantly lower cortisol level after training, while the CG showed no significant change in cortisol levels. In conclusion, diaphragmatic breathing could improve sustained attention, affect, and cortisol levels. This study provided evidence demonstrating the effect of diaphragmatic breathing, a mind-body practice, on mental function, from a health psychology approach, which has important implications for health promotion in healthy individuals.

  10. The Effect of Diaphragmatic Breathing on Attention, Negative Affect and Stress in Healthy Adults.

    Science.gov (United States)

    Ma, Xiao; Yue, Zi-Qi; Gong, Zhu-Qing; Zhang, Hong; Duan, Nai-Yue; Shi, Yu-Tong; Wei, Gao-Xia; Li, You-Fa

    2017-01-01

    A growing number of empirical studies have revealed that diaphragmatic breathing may trigger body relaxation responses and benefit both physical and mental health. However, the specific benefits of diaphragmatic breathing on mental health remain largely unknown. The present study aimed to investigate the effect of diaphragmatic breathing on cognition, affect, and cortisol responses to stress. Forty participants were randomly assigned to either a breathing intervention group (BIG) or a control group (CG). The BIG received intensive training for 20 sessions, implemented over 8 weeks, employing a real-time feedback device, and an average respiratory rate of 4 breaths/min, while the CG did not receive this treatment. All participants completed pre- and post-tests of sustained attention and affect. Additionally, pre-test and post-test salivary cortisol concentrations were determined in both groups. The findings suggested that the BIG showed a significant decrease in negative affect after intervention, compared to baseline. In the diaphragmatic breathing condition, there was a significant interaction effect of group by time on sustained attention, whereby the BIG showed significantly increased sustained attention after training, compared to baseline. There was a significant interaction effect of group and time in the diaphragmatic breathing condition on cortisol levels, whereby the BIG had a significantly lower cortisol level after training, while the CG showed no significant change in cortisol levels. In conclusion, diaphragmatic breathing could improve sustained attention, affect, and cortisol levels. This study provided evidence demonstrating the effect of diaphragmatic breathing, a mind-body practice, on mental function, from a health psychology approach, which has important implications for health promotion in healthy individuals.

  11. 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

  12. 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.

  13. 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

  14. 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

  15. Vasopressin in perioperative management of congenital ...

    African Journals Online (AJOL)

    Annals of Pediatric Surgery ... Oxygenation failure, pulmonary hypertension and refractory systemic hypotension in infants with ... managing pulmonary and systemic perioperative haemodynamic instability in infants with diaphragmatic hernia.

  16. Congenital cystic lung malformations

    International Nuclear Information System (INIS)

    Stoever, B.; Scheer, I.; Bassir, C.; Chaoui, R.; Henrich, W.; Schwabe, M.; Wauer, R.

    2006-01-01

    Purpose: The aim of the study concerning congenital cystic lung malformations was to evaluate prenatal diagnoses postnatally to determine prognostic factors as well as to define optimized perinatal management. Materials and Methods: The study is based on 45 prenatal ultrasound examinations depicting fetal cystic lung lesions. 32 of the mothers had follow-up examinations. 5 pregnancies were terminated due to CCAM and additional malformations. Complete regression of the lesions was seen prenatally in 8 cases and postnatally in 5 children. Results: Surgical intervention due to respiratory insufficiency was necessary in 4 neonates. According to the imaging results, CCAM was present in 4 cases and sequestration in 7 patients. No correlation between the imaging findings and the surgical results was found in 3 children: One child suffered from rhadomyoid dysplasia, and in the case of the second child, a left-sided hernia of the diaphragm and additional sequestration were detected. The third child showed AV malformation. The cystic lesions of the 14 children operated upon were proven histologically. The degree of accuracy in the present study was high. Conclusion: Precise perinatal management is warranted in order to determine according to the clinical relevance surgical intervention and to prevent complications after the first year of life. This is performed during the neonatal period for respiratory insufficient neonates and within the first year of life for clinically stable children. (orig.)

  17. Phrenic Nerve Conduction Abnormalities Correlate with Diaphragmatic Descent in Chronic Obstructive Pulmonary Disease.

    Science.gov (United States)

    El-Tantawi, Gihan A Younis; Imam, Mohamed H; Morsi, Tamer S

    2015-01-01

    Diaphragmatic weakness in chronic obstructive pulmonary disease (COPD) is ascribed to hyperinflation-induced diaphragm shortening as well as impairment in cellular and subcellular structures. Although phrenic neuropathy is known to cause diaphragmatic weakness, phrenic neuropathy is rarely considered in COPD. This work aimed at assessing phrenic nerve conduction in COPD and its relation to radiographic hyperinflation and pulmonary function. Forty COPD patients were evaluated. Radiographic parameters of lung hyperinflation were measured on postero-anterior and lateral chest x-ray films. Flow volume loop parameters were obtained from all patients. Motor conduction study of the phrenic nerves was performed and potentials were recorded over the xiphoid process and the ipsilateral 7th intercostal space. Twenty-seven healthy subjects were enrolled as controls. Parameters of phrenic nerve conduction differed significantly in patients compared to controls. Phrenic nerve abnormalities were detected in 17 patients (42.5%). Electrophysiological measures correlated with diaphragmatic angle of depression on lateral view films and with lung height on postero-anterior films. They did not correlate with the flow volume loop data or disease severity score. Phrenic nerve conduction abnormality is an appreciated finding in COPD. Nerve stretching associated with diaphragmatic descent can be a suggested mechanism for nerve lesion. The presence of phrenic neuropathy may be an additional contributing factor to diaphragmatic dysfunction in COPD patients.

  18. Functional restoration of diaphragmatic paralysis: an evaluation of phrenic nerve reconstruction.

    Science.gov (United States)

    Kaufman, Matthew R; Elkwood, Andrew I; Colicchio, Alan R; CeCe, John; Jarrahy, Reza; Willekes, Lourens J; Rose, Michael I; Brown, David

    2014-01-01

    Unilateral diaphragmatic paralysis causes respiratory deficits and can occur after iatrogenic or traumatic phrenic nerve injury in the neck or chest. Patients are evaluated using spirometry and imaging studies; however, phrenic nerve conduction studies and electromyography are not widely available or considered; thus, the degree of dysfunction is often unknown. Treatment has been limited to diaphragmatic plication. Phrenic nerve operations to restore diaphragmatic function may broaden therapeutic options. An interventional study of 92 patients with symptomatic diaphragmatic paralysis assigned 68 (based on their clinical condition) to phrenic nerve surgical intervention (PS), 24 to nonsurgical (NS) care, and evaluated a third group of 68 patients (derived from literature review) treated with diaphragmatic plication (DP). Variables for assessment included spirometry, the Short-Form 36-Item survey, electrodiagnostics, and complications. In the PS group, there was an average 13% improvement in forced expiratory volume in 1 second (p Phrenic nerve operations for functional restoration of the paralyzed diaphragm should be part of the standard treatment algorithm in the management of symptomatic patients with this condition. Assessment of neuromuscular dysfunction can aid in determining the most effective therapy. Copyright © 2014 The Society of Thoracic Surgeons. Published by Elsevier Inc. All rights reserved.

  19. 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)

  20. Respiratory insufficiency with preserved diaphragmatic function in amyotrophic lateral sclerosis.

    Science.gov (United States)

    Yamauchi, Rika; Imai, Tomihiro; Tsuda, Emiko; Hozuki, Takayoshi; Yamamoto, Daisuke; Shimohama, Shun

    2014-01-01

    We performed a longitudinal study to elucidate the correlation between respiratory insufficiency and respiratory biomarkers, including diaphragmatic compound muscle action potential (DCMAP), at the initiation of noninvasive ventilation (NIV) in patients with amyotrophic lateral sclerosis (ALS). The patients were assessed at least every six months. Additional assessments were performed at the start of respiratory therapy when the patients met the criteria for the initiation of NIV. Each assessment consisted of a full neurological examination, a phrenic nerve conduction study, respiratory function tests, and nocturnal pulsed oximetry. We enrolled 43 patients with either definite or probable ALS as defined by the revised El Escorial criteria. The patients were divided into two groups according to the timing of the initiation of respiratory therapy. Seventeen patients (group A) met the criteria for NIV initiation when their DCMAP remained normal. Twenty-six patients (group B) met the criteria when their DCMAP decreased below normal limits. Although respiratory function parameters were significantly worse in group B compared with group A at NIV initiation, more than 80% of the patients in both groups developed nocturnal desaturation during sleep. DCMAP is not always a reliable indicator for determining the optimal timing for NIV initiation during the progression of respiratory insufficiency in ALS. Physicians should be aware of the risk of respiratory insufficiency during sleep in patients with ALS.

  1. Traumatic diaphragmatic injuries in infants and children: imaging findings

    International Nuclear Information System (INIS)

    Koplewitz, B.Z.; Manson, D.E.; Babyn, P.S.; Ramos, C.; Ein, S.H.

    2000-01-01

    Objectives. Traumatic diaphragmatic injuries (DI) in infants and children are uncommon and are often associated with multiple severe injuries. Delayed presentation can be life threatening due to organ herniation and strangulation. We present the imaging findings in a relatively large population of children who experienced this rare injury. Methods. Medical records of all patients admitted to our Trauma Service from 1977 to 1998 with DI were retrospectively reviewed recording imaging, clinical and surgical or autopsy findings. Results. Of sixteen patients with DI (7 females, 9 males; age 3 weeks to 15 years), 14 suffered from blunt trauma secondary to high-energy impact, and 2 from penetrating injuries. Unilateral DI occurred equally on each side, with one bilateral injury. Associated injuries, present in 81%, included severe head injuries, visceral, mesenteric and vascular injuries and multiple fractures. Six patients died from multiple organ failure (3), head injury (2), and shock (1). Findings in the initial chest X-ray suggested the diagnosis in 13 (81%) of 16 injuries, and CT demonstrated irregularity and thickening of the diaphragm in 4 out of 7. Conclusions. Plain film findings suggested the diagnosis in most; CT and MR were useful adjuncts. High index of suspicion and awareness of the mechanism of injury can lead to prompt diagnosis, early repair, and decreased morbidity and mortality. (orig.)

  2. 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

  3. Thoracic and diaphragmatic endometriosis: Single-institution experience using a novel broadened diagnostic criteria

    Science.gov (United States)

    Larraín, Demetrio; Suárez, Francisco; Braun, Hernán; Chapochnick, Javier; Diaz, Lidia; Rojas, Iván

    2018-06-05

    To describe our experience with the multidisciplinary management of both thoracic/diaphragmatic endometriosis (TED), applying a broadened definition of the “thoracic endometriosis syndrome (TES)” to define cases. We present a retrospective series of consecutive patients affected by pathology-proven TED, treated at our institution, during a period of 7 years. Five women were included. Two cases were referred due to catamenial chest/shoulder pain, one due to recurrent catamenial pneumothorax, one due to new-onset diaphragmatic hernia. One patient had not thoracic symptoms, and diaphragmatic endometriosis was found during gynecologic laparoscopy for pelvic endometriosis. Endometriosis was histologically confirmed in all cases. After follow-up all patients remain asymptomatic. Broadened TES criteria could increase the incidence of TED and determine better knowledge of this condition. Multidisciplinary, minimally invasive surgery is effective and safe, but should be reserved to tertiary referral centers.

  4. Congenital orbital teratoma

    OpenAIRE

    Aiyub, Shereen; Chan, Weng Onn; Szetu, John; Sullivan, Laurence J; Pater, John; Cooper, Peter; Selva, Dinesh

    2013-01-01

    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 p...

  5. 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.

  6. 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.

  7. 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 ...

  8. 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.

  9. Diaphragmatic paralysis evaluated by phrenic nerve stimulation during fluoroscopy or real-time ultrasound

    Energy Technology Data Exchange (ETDEWEB)

    McCauley, R.G.K.; Labib, K.B.

    1984-10-01

    Stimulation of the phrenic nerve by supplying an electrical impulse to the neck during fluoroscopy or real-time ultrasound (sonoscopy) of the diaphragm allows more precise functional evaluation than fluoroscopy and/or sonoscopy alone. This is especially true of patients who are unable to cooperate because the are on a ventilator, unconscious, or very young. The authors cite cases in which diaphragmatic paralysis was diagnosed by conventional methods but stimulation of the phrenic nerve demonstrated good diaphragmatic motion, leading to a change in prognosis in some cases and a change in therapy in others.

  10. Diaphragmatic paralysis evaluated by phrenic nerve stimulation during fluoroscopy or real-time ultrasound

    International Nuclear Information System (INIS)

    McCauley, R.G.K.; Labib, K.B.

    1984-01-01

    Stimulation of the phrenic nerve by supplying an electrical impulse to the neck during fluoroscopy or real-time ultrasound (sonoscopy) of the diaphragm allows more precise functional evaluation than fluoroscopy and/or sonoscopy alone. This is especially true of patients who are unable to cooperate because the are on a ventilator, unconscious, or very young. The authors cite cases in which diaphragmatic paralysis was diagnosed by conventional methods but stimulation of the phrenic nerve demonstrated good diaphragmatic motion, leading to a change in prognosis in some cases and a change in therapy in others

  11. 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.

  12. 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. 

  13. 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.

  14. 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

  15. Key aspects congenital infection

    Directory of Open Access Journals (Sweden)

    Yu. V. Lobzin

    2014-01-01

    Full Text Available The key questions to solve the problem of congenital infection in the Russian Federation are: using in national practice over world accepted terminology adapted to the recommendations of the World Health Organization; representation of the modern concepts of an infectious process in the classification of congenital infections; scientific development and introducing in clinical practice the «standard case definitions», applied to different congenital infections; optimization of protocols and clinical guidelines for diagnosis, treatment and prevention of congenital infections; improvement a knowledge in the infectious disease for all  pecialists involved in the risk assessment of congenital infections, manage pregnancy and children. Based on our experience and analysis of publications, the authors suggest possible solutions.

  16. 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.

  17. Total anomalous systemic venous drainage in left heterotaxy syndrome.

    Science.gov (United States)

    Khandenahally, Ravindranath S; Deora, Surender; Math, Ravi S

    2013-04-01

    Total anomalous systemic venous drainage is an extremely rare congenital heart defect. In this study we describe an 11-year-old girl who presented with a history of fatigue and central cyanosis that she had had since early childhood with unremarkable precordial examination results. Investigations revealed left heterotaxy with all systemic venous drainage to the left-sided atrium with non-compaction of the left ventricle.

  18. 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.

  19. Crura sign: differentiation between traumatic rupture of the diaphragm and nontraumatic diaphragmatic elevation on CT

    International Nuclear Information System (INIS)

    Kim, Sung Jin; Han, Hae Ja; Kim, Wang Jung; Youk, Yong Soo; Han, Gi Seok; Cha, Sang Hoon; Park, Kil Sun; Kim, Dae Young

    1997-01-01

    To evaluate whether in patients with diffuse evaluation of a hemidiaphragm on chest radiographs, the apparence of the crura on CT might be helpful in differentiating between traumatic rupture of the diaphragm (TRD) and nontraumatic causes such as diaphragmatic palsy or diffuse diaphragmatic eventration. Among patients with diffuse elevations of a hemidiaphragm on chest radiograph, 27 who had patients undergone CT scans were retrospectively reviewed. Twelve patients had surgically proven TRD, and 15 had nontraumatic elevation of a hemidiaphragm such as diaphragmatic palsy or diffuse diaphragmatic eventration. Under the hypothesis that the affected crus is markedly thinner than the normal side in nontraumatic elevation but is normal in TRD ('crura sign', we optically assessed without measurement the thickness of both crura. In all patients with TRD, the thickness of the affected crus was similar to that of the contralateral side. In all patients with nontraumatic causes, however, the crus of the elevated hemidiaphragm was markedly thinner than that of the normal side. The 'crura sign' may be useful additional CT finding of traumatic rupture the diaphragm

  20. Blunt bilateral diaphragmatic rupture—A right side can be easily missed

    Directory of Open Access Journals (Sweden)

    Maria Michailidou

    2015-12-01

    Full Text Available Blunt diaphragmatic rupture (BDR is uncommon with a reported incidence range of 1%–2%. The true incidence is not known. Bilateral BDR is particularly rare. We presented a case of bilateral BDR and we think that the incidence is under-recognised thanks to an easily missed and difficult to diagnose right sided injury. Keywords: Blunt, Diaphragm, Bilateral, Injury

  1. 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

  2. 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.

  3. Hepatic fibrosarcoma incarcerated in a peritoneopericardial diaphragmatic hernia in a cat

    Directory of Open Access Journals (Sweden)

    Michael Linton

    2016-03-01

    Full Text Available Case summary A 14-year-old, female neutered domestic shorthair presented for dyspnoea. Thoracic ultrasonography and radiography showed that a heterogeneous mass was present within the pericardial sac, and the mass continued caudally with the mesenteric fat. On CT, the outline of the diaphragm was not continuous and there was an obvious defect with diaphragmatic thickening present at the mid-level of the liver. A pleural effusion and a small-volume pericardial effusion were also present. A ventral midline coeliotomy and median sternotomy revealed a 5 × 6 × 7 cm firm, irregular, tan-coloured soft tissue mass within the pericardial sac attached to both the diaphragmatic defect and liver. The mass was carefully dissected away from the heart and the diaphragmatic defect was repaired with primary closure. Postoperatively, the cat had a persistent pneumothorax that required continuous pleural suction for 41 h. The cat died 44 h postoperatively. Histopathology and immunohistochemistry confirmed the mass to be a hepatic fibrosarcoma incarcerated in a peritoneopericardial diaphragmatic hernia (PPDH. Relevance and novel information This is the first reported case of metaplastic transformation of liver into a sarcoma in a cat with PPDH. In addition, hepatic fibrosarcoma is a rarely reported location for fibrosarcoma in this species.

  4. A rare case of diaphragmatic paralysis due to isolated phrenic nerve ...

    African Journals Online (AJOL)

    2008-11-04

    Nov 4, 2008 ... Isolated phrenic nerve palsy is a rare condition resulting from birth injury, with many possible complications such as diaphragmatic paralysis, pulmonary infection, chronic lung disease, growth failure and even death.1-3 I report a case of neonatal isolated phrenic nerve palsy in an infant delivered.

  5. Post-traumatic diaphragmatic hernias – importance of basic ...

    African Journals Online (AJOL)

    2013-05-02

    May 2, 2013 ... sustained several years previously in a motor vehicle accident. He complained of ... thorax, pleural space occupation and old fractures of left ribs. 8 - 9. ... history.[5] Herniation of other abdominal structures is likely to co-exist.

  6. Pleural pneumatocoeles mimicking congenital cystic adenomatoid malformation of the lung. A case report

    International Nuclear Information System (INIS)

    Aurora, P.; McHugh, K.

    1998-01-01

    We present the plain radiographic and CT appearances of large intrapleural pneumatocoeles in a 13-week-old infant, resulting in compression atelectasis of the left upper and lower lobes, and mimicking congenital cystic adenomatoid malformation. (orig.)

  7. Congenital symmastia revisited

    DEFF Research Database (Denmark)

    Sillesen, Nanna H; Hölmich, Lisbeth R; Siersen, Hans Erik

    2012-01-01

    Symmastia is defined as medial confluence of the breast. The term 'symmastia' is modified from Greek (syn meaning 'together', and mastos meaning 'breast') and was first presented by Spence et al. in 1983. Two forms of symmastia exist: an iatrogenic and a congenital version. Congenital symmastia...... is a rare condition in which web-like soft tissue traverses the sternum to connect the breasts medially. The literature on congenital symmastia is limited, few cases have been published, and knowledge about ideal treatment is still insufficient....

  8. Congenital orbital teratoma.

    Science.gov (United States)

    Aiyub, Shereen; Chan, Wengonn; Szetu, John; Sullivan, Laurence J; Pater, John; Cooper, Peter; Selva, Dinesh

    2013-12-01

    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.

  9. 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.

  10. Congenital Constriction Band Syndrome

    OpenAIRE

    Rajesh Gupta, Fareed Malik, Rishabh Gupta, M.A.Basit, Dara Singh

    2008-01-01

    Congenital constriction bands are anomalous bands that encircle a digit or an extremity. Congenitalconstriction band syndrome is rare condition and is mostly associated with other musculoskeletaldisorders.We report such a rare experience.

  11. 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

  12. 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)

  13. Multifocal Congenital Hemangiopericytoma.

    Science.gov (United States)

    Robl, Renata; Carvalho, Vânia Oliveira; Abagge, Kerstin Taniguchi; Uber, Marjorie; Lichtvan, Leniza Costa Lima; Werner, Betina; Mehrdad Nadji, Mehrdad

    2017-01-01

    Congenital hemangiopericytoma (HPC) is a rare mesenchymal tumor with less aggressive behavior and a more favorable prognosis than similar tumors in adults. Multifocal presentation is even less common than isolated HPC and hence its clinical and histologic recognition may be challenging. A newborn infant with multifocal congenital HPC causing severe deformity but with a favorable outcome after chemotherapy and surgical removal is reported. © 2016 Wiley Periodicals, Inc.

  14. Patent Ductus Arteriosus Associated with Congenital Anomaly of Coronary Artery

    OpenAIRE

    Maleki, Majid; Azizian, Nassrin; Esmaeilzadeh, Maryam; Moradi, Bahieh

    2013-01-01

    We reported a case of patent ductus arteriosus (PDA) with congenital anomaly of coronary arteries as abnormal origin of right coronary artery (RCA) and left coronary artery (LCA) from a single ostium of the right coronary sinus. A 21-year-old man referred to our institution for evaluation of cardiac murmur. He has suffered from palpitation and atypical chest pain for three months. On physical examination, a continuous murmur was heard in the second left parasternal space. Transthoracic echoca...

  15. Left Right Patterning, Evolution and Cardiac Development

    Science.gov (United States)

    Dykes, Iain M.

    2018-01-01

    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. PMID:29755990

  16. 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.

  17. 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.

  18. 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 ...

  19. A case of congenital corneal keloid.

    Science.gov (United States)

    Song, Jong-Suk; Kwon, Sangwon; Shyn, Kyung-Hwan

    2005-06-01

    To describe a case of unilateral comeal keloid and present the clinical and histopathological findings and the management. A 23-year-old Asian male patient was examined for a white spot on the left cornea that had been present since birth. On biomicroscopic examination, a well-demarcated vascularized comeal mass was found located nasal to the center. The pupil was displaced superiorly, and gonioscopic examination showed peripheral iridocomeal adhesion at 12 o'clock. The patient underwent penetrating keratoplasty. Histopathologic study showed a variously thickened epithelial layer, an absence of Bowman's layer, subepithelial fibrovascular hyperplasia, and an absence of dermal elements. These histopathologic findings suggested a congenital comeal keloid. The central graft comea remained clear at 18 months after surgery and the patient was satisfied with the result. Penetrating keratoplasty may be an effective surgical option for congenital keloids in young adult patients.

  20. Congenital Becker's nevus with a familial association.

    Science.gov (United States)

    Book, S E; Glass, A T; Laude, T A

    1997-01-01

    Becker's nevus is a unilateral, hyperpigmented cutaneous hamartoma usually with hypertrichosis. It occurs predominantly in boys, becoming apparent during adolescence, although several cases of congenital Becker's nevus have been reported. Rarely it may be familial and as such is transmitted in an autosomal dominant pattern. We report a 16-month-old black boy with a hyperpigmented patch on his right shoulder and upper pectoral area that extended down his arm. The patient's father has a similar lesion with hair on his left shoulder which has been present since childhood. Histology of the child's lesion was consistent with Becker's nevus. We believe this to be the first reported case of a congenital Becker's nevus with a familial association.

  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. 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.

  3. 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

  4. [Phrenic nerve stimulation protects against mechanical ventilation-induced diaphragmatic dysfunction through myogenic regulatory factors].

    Science.gov (United States)

    An, G H; Chen, M; Zhan, W F; Hu, B; Zhang, H X

    2018-02-12

    Objective: To explore the protective effect of electrical stimulation of phrenic nerve on diaphragmatic function during mechanical ventilation. Methods: Forty healthy adult SD rats were randomly divided into 5 groups: blank control group (BC), spontaneous breathing group (SB), electrical stimulation group (ES), mechanical ventilation group (MV), and electrical stimulation and mechanical ventilation group (MS). The rats in each group were treated for 18 h except for the BC group. After treatment, the diaphragm muscle tissue was obtained and the diaphragm contractility including peak-to-peak value(Vpp) and maximum rate of contraction(+ dT/dt max) were measured. Expression of MyoD and myogenin were detected. Results: Except for the ES and the MS groups, there was a significant difference for peak-to-peak value (Vpp) between each 2 groups ( P mechanical ventilation induced diaphragmatic function damage, and therefore plays a protective effect on the diaphragm.

  5. 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.

  6. Catamenial pneumothorax revealing diaphragmatic endometriosis: a case report and revue of literature.

    Science.gov (United States)

    Aissa, Sana; Benzarti, Wafa; Alimi, Faouzi; Gargouri, Imen; Salem, Halima Ben; Aissa, Amène; Fathallah, Khadija; Abdelkade, Atef Ben; Alouini, Rafika; Garrouche, Abdelhamid; Hayoun, Abdelaziz; Abdelghani, Ahmed; Benzarti, Mohamed

    2017-01-01

    Catamenial pneumothorax (CP) is a rare entity of spontaneous, recurring pneumothorax in women. We aim to discuss the etiology, clinical course, and surgical treatment of a 42-year-old woman with CP. This patient had a right-sided spontaneous pneumothoraces occurred one week after menses. She had under-gone video-assisted thoracoscopic surgery (VATS) because of a persistent air leak under chest tube. VATS revealed multiple diaphragmatic fenestrations with an upper right nodule. Defects were removed and a large part of the diaphragm was resected. Pleural abrasion was then performed over the diaphragm. Diaphragmatic endometriosis was confirmed by microscopic examination. Medical treatment with GnRH agonists was prescribed, and after recovery, the patient has been symptoms free for 20 months.

  7. 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.

  8. 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

  9. Transient megaoesophagus and oesophagitis following diaphragmatic rupture repair in a cat.

    Science.gov (United States)

    Joseph, Rotem; Kuzi, Sharon; Lavy, Eran; Aroch, Itamar

    2008-07-01

    A 6-month-old domestic shorthair female cat was presented with suspected diaphragmatic hernia (DH) that was later confirmed by thoracic radiography. The cat underwent exploratory celiotomy with a diaphragmatic rupture (DR) repair and recovered. Six days later, it was represented with vomiting and anorexia. Megaoesophagus (MO) and gastric dilatation were diagnosed by contrast radiography. A second celiotomy revealed no abnormalities and gastropexy was performed. Endoscopy demonstrated MO, oesophagitis and gastro-oesophageal reflux. MO persisted for several weeks and was an unexpected complication as no association between DR (or DH) and MO has never been described in the veterinary literature. The cat was treated medically with aggressive prokinetic and antacid therapy along with prolonged temporary oesophageal diversion (percutaneous endoscopic gastrostomy tube) with an excellent outcome.

  10. 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.)

  11. 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

  12. Interrupted Aortic Arch Associated with Absence of Left Common Carotid Artery: Imaging with MDCT

    International Nuclear Information System (INIS)

    Onbas, Omer; Olgun, Hasim; Ceviz, Naci; Ors, Rahmi; Okur, Adnan

    2006-01-01

    Interrupted aortic arch (IAA) is a rare severe congenital heart defect defined as complete luminal and anatomic discontinuity between ascending and descending aorta. Although its association with various congenital heart defects has been reported, absence of left common carotid artery (CCA) in patients with IAA has not been reported previously. We report a case of IAA associated with the absence of left CCA which was clearly shown on multidetector-row spiral CT

  13. 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.

  14. Congenital cytomegalovirus infection

    Directory of Open Access Journals (Sweden)

    Katarina Rednak-Paradiž

    2006-11-01

    Full Text Available Background: CMV is the most common agent that causes congenital virus infection. Only 10 % of infected children have symptomatic infection immediately after birth. Signs of central nervous system damage, neurosensory deafness and delayed psychomotor development may manifest as a result of asimptomatic congenital infection later in childhood. In the article we present basic properties of CMV; we describe clinical picture of the congenital infection and possibilities of diagnose and its treatment. We present five children with symptomatic congenital CMV infection that were hospitalized for the period 1992–2002 at the Neonatal department in the University Children’s Hospital in Ljubljana.Conclusions: Identification of infected neonates, especially those with asimptomatic congenital CMV infection, is difficult. Latest incidence of infection in Slovenia is unknown. With new investigations the efficiency of antiviral therapy was discovered but exact indications for therapy are not yet known. CMV vaccine, once available, may ultimately be the best control strategy for this important public health problem. Proper educating women in childbearing age about the risks of CMV and how to avoid disease transmission during pregnancy (hand washing, avoiding mouth-to-mouth contact with preschool children, usage of gloves especially when handling dipers or respiratory secretions are the only control strategies available.

  15. 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.

  16. Incarcerated Diaphragmatic Hernia with Bowel Perforation Presenting as a Tension Pneumothorax

    Directory of Open Access Journals (Sweden)

    Ryan P. Offman

    2014-03-01

    Full Text Available We present an interesting case of a patient with a previously known diaphragmatic hernia in which the colon became incarcerated, ischemic and finally perforated. She had no prior history of abdominal pain or vomiting, yet she present with cardiovascular collapse. To our knowledge, this is the only case report of a tension pneumothorax associated with perforated bowel that was not in the setting of trauma or colonoscopy. [West J Emerg Med. 2014;15(2:142-144.

  17. 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...

  18. 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

  19. 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

  20. Gastric volvulus due to diaphragmatic eventration and paraesophageal hernia

    OpenAIRE

    DOĞAN, Nurettin Özgür; AKSEL, Gökhan; DEMİRCAN, Ahmet; KELEŞ, Ayfer; BİLDİK, Fikret

    2014-01-01

    Acute gastric volvulus occurs when the stomach or a part of it rotates more than 180 degrees. It is a potentially life-threatening entity and most cases of gastric volvulus occur in association with eventration of left hemidiaphragm or a hiatal hernia. Gastric volvulus is a rare condition and presents with nonspecific epigastric pain and vomiting, and therefore may be missed. Chest x-ray and CT can help the diagnosis. Emergent surgical approach is mandatory. Two elderly patients admitted t...

  1. Extreme premature with persistent left superior vena cava.

    Science.gov (United States)

    Aboitiz-Rivera, Carlos Manuel; Blachman-Braun, Ruben; Parra-Pérez, Mariana Yazmin

    2017-10-01

    Persistent left superior vena cava (PLSVC) is a congenital anomaly, that results when there is an absence of the normal regression of the left common precardinal vein during embryogenesis. Usually, this anomaly remains asymptomatic, however, when the PLSVC drains into the left atrium this could lead to a right-to-left shunt. Additionally, this can result in inadvertent delivery of air or thrombus into the systemic circulation with potential neurologic, cardiac and renal complications. In this article, we present a case of an extreme premature Mexican newborn in which the diagnosis was made after placement of a percutaneous central venues catheter.

  2. Nitrofurantoin and congenital abnormalities

    DEFF Research Database (Denmark)

    Czeizel, A.E.; Rockenbauer, M.; Sørensen, Henrik Toft

    2001-01-01

    or fetuses with Down’s syndrome (patient controls), 23 (2.8%) pregnant women were treated with nitrofurantoin. The above differences between population controls and cases may be connected with recall bias, because the case-control pair analysis did not indicate a teratogenic potential of nitrofurantoin use......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...... during the second and the third months of gestation, i.e. in the critical period for major congenital abnormalities. Conclusion: Treatment with nitrofurantoin during pregnancy does not present detectable teratogenic risk to the fetus....

  3. 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.

  4. 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.

  5. Surgical Techniques for Diaphragmatic Resection During Cytoreduction in Advanced or Recurrent Ovarian Carcinoma: A Systematic Review and Meta-analysis.

    Science.gov (United States)

    Bogani, Giorgio; Ditto, Antonino; Martinelli, Fabio; Lorusso, Domenica; Chiappa, Valentina; Donfrancesco, Cristina; Di Donato, Violante; Indini, Alice; Aletti, Giovanni; Raspagliesi, Francesco

    2016-02-01

    Optimal cytoreduction is one the main factors improving survival outcomes in patients affected by ovarian cancer (OC). It is estimated that approximately 40% of OC patients have gross disease located on the diaphragm. However, no mature data evaluating outcomes of surgical techniques for the management of diaphragmatic carcinosis exist. In the present study, we aimed to estimate surgery-related morbidity of different surgical techniques for diaphragmatic cytoreduction in advanced or recurrent OC. PubMed (MEDLINE), Web of Science, and Clincaltrials.gov databases were searched for records estimating outcomes of diaphragmatic peritoneal stripping (DPS) or diaphragmatic full-thickness resection (DFTR) for OC. The meta-analysis was performed using the Cochrane Review software. For the final analysis, 5 articles were available, including 272 patients. Diaphragmatic peritoneal stripping and DFTR were performed in 197 patients (72%) and 75 patients (28%), respectively. Pooled analysis suggested that the estimated pleural effusion rate was 43% and 51% after DPS and DFTR, respectively. The need for pleural punctures or chest tube placement was 4% and 9% after DPS and DFTR, respectively. The rate of postoperative pneumothorax (4% vs 9%; odds ratio, 0.31; 95% confidence interval, 0.05-2.08) and subdiaphragmatic abscess (3% vs 3%; odds ratio, 0.45; 95% confidence interval, 0.09-2.31) were similar after the execution of DPS and DFTR. Diaphragmatic surgery is a crucial step during cytoreduction for advanced or recurrent OC. Obviously, the choice to perform DPS or DFTR depends on the infiltration of the diaphragmatic muscle or not. Both the procedures are associated with a low pulmonary complication and chest tube placement rates.

  6. Congenital maxillary double lip

    Directory of Open Access Journals (Sweden)

    Dinesh Singh Chauhan

    2012-01-01

    Full Text Available Double lip, also referred to as "macrocheilia," is a rare anomaly which affects the upper lip more commonly than the lower lip. It consists of a fold of excess or redundant hypertrophic tissue on the mucosal side of the lip. The congenital double lip is believed to be present at birth and becomes more prominent after eruption of teeth. It affects esthetics and also interferes with speech and mastication. Simple surgical excision produces good functional and cosmetic results. We report a case of a non-syndromic congenital maxillary double lip in a 21-year-old male patient.

  7. Congenital hearing impairment

    Energy Technology Data Exchange (ETDEWEB)

    Robson, Caroline D. [Children' s Hospital and Harvard Medical School, Division of Neuroradiology, Department of Radiology, Boston, MA (United States)

    2006-04-15

    Establishing the etiology of congenital hearing impairment can significantly improve treatment for certain causes of hearing loss and facilitates genetic counseling. High-resolution CT and MRI have contributed to the evaluation and management of hearing impairment. In addition, with the identification of innumerable genetic loci and genetic defects involved in hearing loss, genetic testing has emerged as an invaluable tool in the assessment of hearing impairment. Some of the common forms of congenital hearing loss are reviewed and their imaging features illustrated. (orig.)

  8. Congenital spinal malformations

    International Nuclear Information System (INIS)

    Ertl-Wagner, B.B.; Reiser, M.F.

    2001-01-01

    Congenital spinal malformations form a complex and heterogeneous group of disorders whose pathogenesis is best explained embryologically. Radiologically, it is important to formulate a diagnosis when the disorder first becomes symptomatic. However, it is also crucial to detect complications of the disorder or of the respective therapeutic interventions in the further course of the disease such as hydromyelia or re-tethering after repair of a meningomyelocele. Moreover, once a congenital spinal malformation is diagnosed, associated malformations should be sought after. A possible syndromal classification such as in OEIS- or VACTERL-syndromes should also be considered. (orig.) [de

  9. Congenital hearing impairment

    International Nuclear Information System (INIS)

    Robson, Caroline D.

    2006-01-01

    Establishing the etiology of congenital hearing impairment can significantly improve treatment for certain causes of hearing loss and facilitates genetic counseling. High-resolution CT and MRI have contributed to the evaluation and management of hearing impairment. In addition, with the identification of innumerable genetic loci and genetic defects involved in hearing loss, genetic testing has emerged as an invaluable tool in the assessment of hearing impairment. Some of the common forms of congenital hearing loss are reviewed and their imaging features illustrated. (orig.)

  10. Congenital laryngeal anomalies,

    Directory of Open Access Journals (Sweden)

    Michael J. Rutter

    2014-12-01

    Full Text Available 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 main aspects concerning airway management of infants will be analyzed. Conclusions: It is critical for clinicians to understand issues relevant to the airway management of infants.

  11. Congenital Heart Defects and CCHD

    Science.gov (United States)

    ... and more. Stony Point, NY 10980 Close X Home > Complications & Loss > Birth defects & other health conditions > Congenital heart defects and ... in congenital heart defects. You have a family history of congenital heart ... syndrome or VCF. After birth Your baby may be tested for CCHD as ...

  12. Spontaneous regression of a congenital melanocytic nevus

    Directory of Open Access Journals (Sweden)

    Amiya Kumar Nath

    2011-01-01

    Full Text Available Congenital melanocytic nevus (CMN may rarely regress which may also be associated with a halo or vitiligo. We describe a 10-year-old girl who presented with CMN on the left leg since birth, which recently started to regress spontaneously with associated depigmentation in the lesion and at a distant site. Dermoscopy performed at different sites of the regressing lesion demonstrated loss of epidermal pigments first followed by loss of dermal pigments. Histopathology and Masson-Fontana stain demonstrated lymphocytic infiltration and loss of pigment production in the regressing area. Immunohistochemistry staining (S100 and HMB-45, however, showed that nevus cells were present in the regressing areas.

  13. Isolation of the Left Innominate Artery with a Right Aortic Arch in a 76 year-old Man: A Case Report

    Energy Technology Data Exchange (ETDEWEB)

    Kim, Young Tong; Jou, Sung Shick; Bae, Won Kyung [Soonchunhyang University Cheonan Hospital, Cheonan (Korea, Republic of)

    2009-05-15

    Isolation of the left innominate artery is a rare anomaly and is usually combined with a right side aortic arch. Most patients are neonates or children with congenital heart disease. We report the MDCT findings of a right aortic arch and isolation of the left innominate artery in a 76-year-old man without congenital heart disease

  14. 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

  15. Ventilation-perfusion lung imaging in diaphragmatic paralysis

    International Nuclear Information System (INIS)

    Chopra, S.K.; Taplin, G.V.

    1977-01-01

    Clinical, radiological, physiological, and lung imaging findings from a patient with paralysis of the diaphragm are described. Dyspnea, hypoxemia and hypercapnia increased when the patient changed from the upright to the supine positions. Ventilation (V) and perfusion (P) images of the right lung appeared to be relatively normal and remained nearly the same in the upright and supine positions. In contrast, V/P images of the left lung were smaller than those of the right lung in the upright position and decreased further in the supine position. In addition, the size of the ventilation image was much smaller than that of the perfusion

  16. Multimodality management of primary diaphragmatic synovial sarcoma: First report

    Directory of Open Access Journals (Sweden)

    Preyas J Vaidya

    2016-01-01

    Full Text Available Synovial cell sarcoma is an extremely rare tumor of mesenchymal origin. It commonly affects the soft tissues of the extremities but could possibly origin from the head and neck, heart, lung, pleura, mediastinum, esophagus, abdominal wall and the mesentery, and retroperitoneum. Primary synovial sarcoma of pleura, mediastinum, and lung have been reported. Primary synovial sarcoma of the diaphragm has not been reported to the best of our knowledge. We report a case of primary synovial cell sarcoma of the diaphragm presenting as a recurrent pleural effusion and pain in the left hypochondrium managed with multimodality approach.

  17. Potential implications of the helical heart in congenital heart defects.

    Science.gov (United States)

    Corno, Antonio F; Kocica, Mladen J

    2007-01-01

    The anatomic and functional observations made by Francisco Torrent-Guasp, in particular his discovery of the helical ventricular myocardial band (HVMB), have challenged what has been taught to cardiologists and cardiac surgeons over centuries. A literature debate is ongoing, with interdependent articles and comments from supporters and critics. Adequate understanding of heart structure and function is obviously indispensable for the decision-making process in congenital heart defects. The HVMB described by Torrent-Guasp and the potential impact on the understanding and treatment of congenital heart defects has been analyzed in the following settings: embryology, ventriculo-arterial discordance (transposition of great arteries), Ebstein's anomaly, pulmonary valve regurgitation after repair of tetralogy of Fallot, Ross operation, and other congenital heart defects. The common structural spiral feature is only one of the elements responsible for the functional interaction of right and left ventricles, and understanding the form/function relationship in congenital heart defects is more difficult than for acquired heart disease because of the variety and complexity of congenital heart defects. Individuals involved in the care of patients with congenital heart defects have to be stimulated to consider further investigations and alternative surgical strategies.

  18. The incidence of congenital malformations and variations in Göttingen minipigs.

    Science.gov (United States)

    Ellemann-Laursen, S; Marsden, E; Peter, B; Downes, N; Coulby, D; Grossi, A B

    2016-09-01

    Knowledge of the incidence of spontaneous congenital abnormalities is critical for the accurate interpretation of findings in teratogenicity studies in any species. In this paper, results of the examination of 1739 neonatal Göttingen Minipigs are presented. Over the 2-year period under consideration, the incidence of external and visceral malformations was less than 0.2 and 0.1%, respectively. The most common external malformations were syndactyly, limb hyperflexion, domed head and scoliosis. The most common internal malformations were undescended testes, ventricular septal defect, diaphragmatic hernia and atrial septal defects. Pentadactyly and variation in the aortic arch's bifurcation (absent truncus bicaroticus) were the most common variations. These data will help support the use of the Göttingen Minipig as a non-rodent species in embryofetal development studies where concerns persist about the availability of background data. Copyright © 2016 Elsevier Inc. All rights reserved.

  19. Cardiovascular malformations caused by NOTCH1 mutations do not keep left : data on 428 probands with left-sided CHD and their families

    NARCIS (Netherlands)

    Kerstjens-Frederikse, Wilhelmina S.; van de Laar, Ingrid M. B. H.; Vos, Yvonne J.; Verhagen, Judith M. A.; Berger, Rolf M. F.; Lichtenbelt, Klaske D.; Wassink-Ruiter, Jolien S. Klein; van der Zwaag, Paul A.; Sarvaas, Gideon J. du Marchie; Bergman, Klasien A.; Bilardo, Catia M.; Roos-Hesselink, Jolien W.; Janssen, Johan H. P.; Frohn-Mulder, Ingrid M.; van Spaendonck-Zwarts, Karin Y.; Melle, van Joost P.; Hofstra, Robert M. W.; Wessels, M. W.

    Purpose: We aimed to determine the prevalence and phenotypic spectrum of NOTCH1 mutations in left-sided congenital heart disease (LS-CHD). LS-CHD includes aortic valve stenosis, a bicuspid aortic valve, coarctation of the aorta, and hypoplastic left heart syndrome. Methods: NOTCH1 was screened for

  20. Posterior diaphragmatic defect detected on chest CT: the incidence according to age and the lateral chest radiographic appearances

    International Nuclear Information System (INIS)

    Lee, Son Youl; Choi, Yo Won; Jeon, Seok Chol; Heo, Jeong Nam; Park, Choong Ki

    2007-01-01

    We wanted to investigate the incidence of posterior diaphragmatic defect on chest CT in various age groups and its lateral chest radiographic appearances. The chest CT scans of 78 patients of various ages with posterior diaphragmatic defect were selected among 1,991 patients, and they were analyzed for the incidence of defect in various age groups, the defect location and the herniated contents. Their lateral chest radiographs were analyzed for the shape of the posterior diaphragm and the posterior costophrenic sulcus. The patients' ages ranged from 34 to 87 with the tendency of a higher incidence in the older patients. The defect most frequently involved the medial two thirds (n = 49, 50.4%) and middle one third (n = 36, 37%) of the posterior diaphragm. The retroperitoneal fat was herniated into the thorax through the defect in all patients, and sometimes with the kidney (n = 8). Lateral chest radiography showed a normal diaphragmatic contour (n = 51, 49.5%), blunting of the posterior costophrenic sulcus (n = 41, 39.8%), focal humping of the posterior diaphragm (n = 7, 6.8%), or upward convexity (n = 4, 3.9%) of the posterior costophrenic sulcus on the affected side. The posterior diaphragmatic defect discovered in asymptomatic patients who are without a history of peridiaphragmatic disease is most likely acquired, and this malady increases in incidence according to age. An abnormal contour of the posterior diaphragm or the costophrenic sulcus on a lateral chest radiograph may be a finding of posterior diaphragmatic defect

  1. Severe congenital neutropenia

    DEFF Research Database (Denmark)

    Borregaard, Niels

    2014-01-01

    In this issue of Blood, Tidwell et al1 demonstrate that mutations in the start codon (protein synthesis is initiated at the codon ATG) of neutrophil elastase (ELANE) result in the production of N-terminally truncated elastase, which mislocates to the nucleus and results in severe congenital neutr...... neutropenia (SCN)....

  2. Giant Congenital Melanocytic Nevus

    DEFF Research Database (Denmark)

    Rasmussen, Bo Sonnich; Henriksen, Trine Foged; Kølle, Stig-Frederik Trojahn

    2015-01-01

    Giant congenital melanocytic nevi (GCMN) occur in 1:20,000 livebirths and are associated with increased risk of malignant transformation. The treatment of GCMN from 1981 to 2010 in a tertiary referral center was reviewed evaluating the modalities used, cosmetic results, associated complications...

  3. Congenital neck masses.

    Science.gov (United States)

    Rosa, Peter A; Hirsch, David L; Dierks, Eric J

    2008-08-01

    Congenital neck lesions reflect abnormal embryogenesis in head and neck development. A thorough knowledge of embryology and anatomy is critical in the diagnosis and treatment of these lesions. The appropriate diagnosis of these lesions is necessary to provide appropriate treatment and long-term follow up, because some of these lesions may undergo malignant transformation or be harbingers of malignant disease.

  4. Congenital extracranial meningioma

    International Nuclear Information System (INIS)

    Wong, H.F.; Ng, S.H.; Wai, Y.Y.; Wan, Y.L.; Kong, M.S.

    1995-01-01

    The authors report a case of congenital meningioma in a newborn. This tumour is extremely rare and only six cases have been reported in the literature. Those reported cases were mainly intracranial. This is the first case of a neonatal extracranial meningioma that was evaluated preoperatively by computed tomography and magnetic resonance imaging. (orig.)

  5. Congenital cystic adenomatoid malformation

    International Nuclear Information System (INIS)

    Chaudhry, A.K.; Azam, M.; Maqsood, R.; Naz, B.; Salam, A.

    2003-01-01

    This case report presents the clinical picture, diagnostic methodology and surgical treatment of a female child who presented with chronic cough and dyspnoea due to congenital malformation of lung. A discussion of diagnosis and management is presented at the end. (author)

  6. Pseudoamblyopia in Congenital Cyclotropia

    Directory of Open Access Journals (Sweden)

    Antonio Frattolillo

    2017-01-01

    Full Text Available Purpose. To study the effect of surgery on amblyopia and suppression associated with congenital cyclovertical strabismus. Methods. The fixation pattern was investigated with microperimetry before and soon after surgery in ten consecutive children operated for congenital superior oblique palsy at the S. Martino Hospital, Belluno, Italy, between September 2014 and December 2015. Changes in visual performance in terms of best-corrected visual acuity (BCVA and stereopsis between the day before and one week after surgery were also evaluated. No other amblyopia treatment has been administered during the time study. Results. Surgical correction of the excyclodeviation in congenital SO palsy determined monocular and binocular sensory consequences: monocularly, in the cyclodeviated amblyopic eye, BCVA (0.46–0.03 LogMAR; p<0.0001 and the fixation pattern improved, as demonstrated by microperimetry examination. Binocularly, stereopsis improved or emerged while suppression at the Worth four-dot test disappeared. Conclusions. In the absence of further amblyopic factors such as coexisting constant vertical and/or horizontal deviation and anisometropia, the amblyopia encountered in congenital SO palsy may resolve soon after the surgical alignment. Therefore, it may be considered and defined “pseudoamblyopia.”

  7. Identification of congenital deafblindness

    DEFF Research Database (Denmark)

    Dammeyer, Jesper Herup

    2012-01-01

    . The study evaluated the assessment procedure of 190 children and adults found to be congenitally deafblind. Among the 190 individuals 76 percent were determined using functional assessment in addition to medical examination. A case example involving a 12-year-old child is also presented to illustrate...

  8. Anaesthesia for left thoracoscopic sympathectomy for refractory long ...

    African Journals Online (AJOL)

    Congenital long QT syndrome (LQTS) is a rare genetic disorder that has been associated with various genetic mutations ... Left thoracoscopic sympathectomy is an effective treatment for patients ... frequency of cardiac events/ICD shocks postoperatively. The ... inheritance, dental abnormalities, clinodactyly, and bidirectional.

  9. Anomalous left the pulmonary dilemma coronary artery artery from a ...

    African Journals Online (AJOL)

    Anomalous origin ofthe left coronary artery from the pulmonary artery is an unusual congenital ... led us to review our experience of this anomaly over the past 10 years. During this .... New York: McGraw-Hill, 1978: 1345. 5. Bland EF, White PO, ...

  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. Increased arterial stiffness in children with congenital heart disease.

    Science.gov (United States)

    Häcker, Anna-Luisa; Reiner, Barbara; Oberhoffer, Renate; Hager, Alfred; Ewert, Peter; Müller, Jan

    2018-01-01

    Objective Central systolic blood pressure (SBP) is a measure of arterial stiffness and strongly associated with atherosclerosis and end-organ damage. It is a stronger predictor of cardiovascular events and all-cause mortality than peripheral SBP. In particular, for children with congenital heart disease, a higher central SBP might impose a greater threat of cardiac damage. The aim of the study was to analyse and compare central SBP in children with congenital heart disease and in healthy counterparts. Patients and methods Central SBP was measured using an oscillometric method in 417 children (38.9% girls, 13.0 ± 3.2 years) with various congenital heart diseases between July 2014 and February 2017. The test results were compared with a recent healthy reference cohort of 1466 children (49.5% girls, 12.9 ± 2.5 years). Results After correction for several covariates in a general linear model, central SBP of children with congenital heart disease was significantly increased (congenital heart disease: 102.1 ± 10.2 vs. healthy reference cohort: 100.4 ± 8.6, p congenital heart disease subgroups revealed higher central SBP in children with left heart obstructions (mean difference: 3.6 mmHg, p congenital heart disease have significantly higher central SBP compared with healthy peers, predisposing them to premature heart failure. Screening and long-term observations of central SBP in children with congenital heart disease seems warranted in order to evaluate the need for treatment.

  12. Lung scan alterations in congenital heart disease

    Energy Technology Data Exchange (ETDEWEB)

    Dietrich, R; Sanchez, J; Munoz, A; Lanaro, A E; Pico, A M

    1975-04-01

    This report analyzes the patterns in 54 lung scannings of 34 patients with altered pulmonary blood flow due to congenital heart disease. The technique and the results are presented. According to the images obtained, the patients are classified in three groups: Group I--normal distribution with more concentration of particles over the right lung and the bases. Group II--normal scannings found in left to right shunts unless there is pulmonary venous hypertension in which case the apex-base relationship was inverted. Group III--patients with right to left shunts of different types presenting various patterns according to severity, associated anomalies and palliative surgery. The hemodynamics created by cardiac defects and surgical procedures explain these alterations. This method is recommended in view of its advantages and accurate results.

  13. Postmortem magnetic resonance appearances of congenital high airway obstruction syndrome

    Energy Technology Data Exchange (ETDEWEB)

    Arthurs, Owen J. [Great Ormond Street Hospital for Children NHS Foundation Trust, Department of Radiology, London (United Kingdom); UCL Institute of Child Health, London (United Kingdom); Chitty, Lyn S. [UCL Institute of Child Health, Genetics and Genomic Medicine, London (United Kingdom); Great Ormond Street and UCLH NHS Foundation Trusts, London (United Kingdom); Judge-Kronis, Lydia [Great Ormond Street Hospital for Children NHS Foundation Trust, Department of Histopathology, London (United Kingdom); Sebire, Neil J. [UCL Institute of Child Health, London (United Kingdom); Great Ormond Street Hospital for Children NHS Foundation Trust, Department of Histopathology, London (United Kingdom)

    2015-04-01

    Congenital high airway obstruction syndrome (CHAOS) is a rare life-threatening condition characterised by complete or near-complete developmental obstruction of the foetal airway. Although antenatal imaging findings have been described, the postmortem MRI findings have not been reported. To present postmortem MRI features of CHAOS. We retrospectively reviewed our hospital pathology and imaging databases for cases of CHAOS over a 2-year period. We identified two cases of CHAOS. In both cases, postmortem plain radiographs demonstrated gross abdominal distension with distortion and splaying of the rib cage. Both foetuses had characteristic postmortem MRI findings including large-volume fluid-filled lungs on T2-weighted imaging, diaphragmatic eversion, fluid-filled airway dilatation below the level of obstruction, centrally positioned and compressed heart, and massive ascites. One foetus had an associated limb abnormality. Postmortem MRI in foetuses suspected of having CHAOS allows confirmation of the diagnosis, determination of the anatomical level of the atresia or stenosis, and identification of associated abnormalities without the need for invasive autopsy. (orig.)

  14. Evaluation of the anomalous retroesophageal left brachiocephalic vein in Chinese children using multidetector CT

    Energy Technology Data Exchange (ETDEWEB)

    Ming, Zhu; Aimin, Sun; Rui, He [Shanghai Children' s Medical Center, Department of Radiology, Shanghai (China)

    2009-04-15

    Anomalous retroesophageal left brachiocephalic vein is a very rare anomaly of the brachiocephalic vein. At the time of writing only one case had been reported worldwide. The purpose of this study was to report four cases of anomalous retroesophageal left brachiocephalic vein and to evaluate the utility of multidetector computed tomography (MDCT) for investigation of the anomaly. From June 2005 to May 2008, we examined 2,146 children with congenital heart disease and 4,082 children without congenital heart disease using MDCT. The patients ranged in age from 1 day to 12 years. Maximum intensity projection reconstruction was performed to show the brachiocephalic vein. A retroesophageal left brachiocephalic vein was found in 4 of the 2,146 patients (0.19%) with congenital heart disease and in 0 of the 4,082 patients without congenital heart disease. In all four patients, the condition was confirmed during surgery for the congenital heart disease. MDCT is a good modality for evaluating the anomalous retroesophageal left brachiocephalic vein. An anomalous retroesophageal left brachiocephalic vein was more common in patients with congenital heart disease. (orig.)

  15. Evaluation of the anomalous retroesophageal left brachiocephalic vein in Chinese children using multidetector CT

    International Nuclear Information System (INIS)

    Ming, Zhu; Aimin, Sun; Rui, He

    2009-01-01

    Anomalous retroesophageal left brachiocephalic vein is a very rare anomaly of the brachiocephalic vein. At the time of writing only one case had been reported worldwide. The purpose of this study was to report four cases of anomalous retroesophageal left brachiocephalic vein and to evaluate the utility of multidetector computed tomography (MDCT) for investigation of the anomaly. From June 2005 to May 2008, we examined 2,146 children with congenital heart disease and 4,082 children without congenital heart disease using MDCT. The patients ranged in age from 1 day to 12 years. Maximum intensity projection reconstruction was performed to show the brachiocephalic vein. A retroesophageal left brachiocephalic vein was found in 4 of the 2,146 patients (0.19%) with congenital heart disease and in 0 of the 4,082 patients without congenital heart disease. In all four patients, the condition was confirmed during surgery for the congenital heart disease. MDCT is a good modality for evaluating the anomalous retroesophageal left brachiocephalic vein. An anomalous retroesophageal left brachiocephalic vein was more common in patients with congenital heart disease. (orig.)

  16. Radionuclide angiocardiography in the diagnosis of congenital heart disorders

    International Nuclear Information System (INIS)

    Jones, R.H.; Austin, E.H.; Peter, C.A.; Sabiston, D.C. Jr.

    1981-01-01

    Radionuclide angiocardiography provides a noninvasive assessment of cardiac function and blood flow through the heart and lungs. During the past three years, this procedure has been used at the Duke University Medical Center for evaluation of 343 patients with congenital heart disorders. A review of this experience shows tat the resulting data were frequently useful in the surgical management of these patients. In patients with abnormal blood flow patterns, noninvasive imaging of blood flow was useful before and after operative correction. Radionuclide measurements of left-to-right intracardiac shunts were sufficiently accurate for use in the initial evaluation of patients with murmurs and to document the absence of shunt after operative closure of intracardiac septal defects. Moreover, measurements of right-to-left cardiac shunts were of benefit in the management of children with cyanotic heart disease. Measurements of left ventricular function obtained during rest and exercise were most useful in patients with origin of the left coronary artery from the pulmonary artery and in patients with congenital valvular insufficiency. This experience demonstrates that radionuclide angiocardiography provides important measurements of central hemodynamics and cardiac function which are useful in the management of patients with congenital heart disorders

  17. Perioperative survival rates after surgery for diaphragmatic hernia in dogs and cats: 92 cases (1990-2002).

    Science.gov (United States)

    Gibson, Thomas W G; Brisson, Brigitte A; Sears, William

    2005-07-01

    To determine the survival rates of dogs and cats that underwent surgical treatment for traumatic diaphragmatic hernia within 24 hours of admission and determine whether timing of surgery affected perioperative survival rate. Retrospective study. 63 dogs and 29 cats treated surgically for traumatic diaphragmatic hernia. Medical records were reviewed to evaluate associations between perioperative survival rates and variables including timing of surgery in relation to admission and acute versus chronic diaphragmatic hernia. Among the 92 animals, 82 (89.1%) were discharged alive after surgery. Sixty-four (69.6%) patients received surgical intervention within 12 hours of admission, and 84 (91.3%) received surgical intervention within 24 hours of admission. Median time from admission to discharge was 4 days (2 to 33 days). Data for acute cases (68 dogs and cats) were analyzed separately. Sixty-three (92.6%) patients with acute diaphragmatic hernia received surgical intervention within 24 hours of admission to the hospital, and 59 (93.7%) of these patients were discharged alive. Twenty-nine (42.6%) patients with acute diaphragmatic hernia received surgical intervention within 24 hours of trauma, and 26 of 29 (89.7%) patients were discharged alive. An overall acute and chronic perioperative survival rate of 89.7% was observed in dogs and cats that received surgical intervention within 24 hours of admission. Results in 68 dogs and cats that underwent surgery within 24 hours of admission suggested that early surgical intervention for acute diaphragmatic hernia was associated with good perioperative survival rates.

  18. Patent ductus arteriosus associated with congenital anomaly of coronary artery.

    Science.gov (United States)

    Maleki, Majid; Azizian, Nassrin; Esmaeilzadeh, Maryam; Moradi, Bahieh

    2013-11-01

    We reported a case of patent ductus arteriosus (PDA) with congenital anomaly of coronary arteries as abnormal origin of right coronary artery (RCA) and left coronary artery (LCA) from a single ostium of the right coronary sinus. A 21-year-old man referred to our institution for evaluation of cardiac murmur. He has suffered from palpitation and atypical chest pain for three months. On physical examination, a continuous murmur was heard in the second left parasternal space. Transthoracic echocardiography showed normal left and right ventricular size and systolic function (LVEF = 55%). Main pulmonary artery (PA) and left pulmonary artery (LPA) branch were considerably dilated. Considering normal coronary flow, lack of clinical evidence of myocardial ischemia and echocardiography findings, patient underwent surgical closure of PDA via left thoracotomy and after five days discharged uneventfully.

  19. Electron-beam CT diagnosis of congenital cardiovascular diverticula

    International Nuclear Information System (INIS)

    Yang Youyou; Zheng Lili; Li Xiangmin; Zhou Xuhui; Peng Qian; Meng Quanfei; Dai Ruping

    2008-01-01

    Objective: To investigate the clinical application of electron-beam CT (EBCT) in the diagnosis of congenital cardiovascular diverticula. Methods: Retrospective analysis of 9 patients with congenital cardiovascular diverticula confirmed by operation and pathology was done. Of them, enhanced continuous volume scan was performed on 8 patients and enhanced single slice scan was performed on one patient with an Imatron C-150 scanner. Results: The group of 9 patients included one patient with diverticulum of the left ventricle, 3 patients with diverticulum of the atria and 5 patients with diverticulum of the aorta. EBCT scan and three dimensional reconstruction could demonstrate not only the origin, size, shape, location and adjacent structure of diverticula, but also other important complicated abnormalities such as ventriculoarterial connection disorder, cardiac septal defect, aortic coarctation and even dissection. Conclusion: EBCT is an ideal noninvasive technique in the diagnosis of congenital cardiovascular diverticula. (authors)

  20. [A case of Crow-Fukase syndrome with respiratory failure due to bilateral diaphragmatic paralysis].

    Science.gov (United States)

    Namekawa, Michito; Muramatsu, Shin-ichi; Hashimoto, Ritsuo; Kawakami, Tadataka; Fujimoto, Ken-ichi; Nakano, Imaharu

    2002-07-01

    A 62-year-old man with well-controlled diabetes mellitus developed numbness of the bilateral feet and hands, followed by subacutely progressive weakness and amyotrophy of extremities. He became bed-ridden state, and dyspnea also appeared, so he was referred to our hospital. Physical examination revealed a lean man, with dark-reddish skin pigmentation, crabbed fingers, bilateral pretibial pitting edema, and bristles in extremities. Thoracoabdominal paradoxical respiration was observed and pulmonary vesicular sounds was decreased markedly in the both lungs. Laboratory data revealed hypoproteinemia, abnormalities of endocrine system, but M-protein was not detected. Serum vascular endothelial growth factor level was quite high. Chest radiography revealed elevation of the bilateral diaphragm, the % vital capacity (%VC) was 24%, and arterial blood gas analysis showed marked hypoxia with hypercapnia. These findings suggested that his respiratory failure was induced by bilateral diaphragmatic paralysis caused by bilateral phrenic nerve palsy due to Crow-Fukase syndrome. He became somnolent because of hypercapnic narcosis, so non-invasive positive pressure ventilation (NIPPV) was started. We treated him with intravenous immunoglobulin and oral corticosteroids therapies, and after these therapies, his symptoms were remarkably recovered and NIPPV became unnecessary soon. The most frequent causes of respiratory failure in Crow-Fukase syndrome are pleural effusion and pulmonary hypertension, and only two cases of this syndrome with respiratory failure caused by bilateral diaphragmatic paralysis were reported until now. When the patients with Crow-Fukase syndrome complain of dyspnea, we should take the diaphragmatic paralysis into consideration, which may be improved by appropriate therapies.

  1. Congenital imprinting disorders

    DEFF Research Database (Denmark)

    Eggermann, Thomas; Netchine, Irène; Temple, I Karen

    2015-01-01

    Imprinting disorders (IDs) are a group of eight rare but probably underdiagnosed congenital diseases affecting growth, development and metabolism. They are caused by similar molecular changes affecting regulation, dosage or the genomic sequence of imprinted genes. Each ID is characterised...... by specific clinical features, and, as each appeared to be associated with specific imprinting defects, they have been widely regarded as separate entities. However, they share clinical characteristics and can show overlapping molecular alterations. Nevertheless, IDs are usually studied separately despite...... EUCID.net (European network of congenital imprinting disorders) now aims to promote better clinical care and scientific investigation of imprinting disorders by establishing a concerted multidisciplinary alliance of clinicians, researchers, patients and families. By encompassing all IDs and establishing...

  2. Congenital intestinal lymphangiectasia

    Directory of Open Access Journals (Sweden)

    Popović Dušan Đ.

    2011-01-01

    Full Text Available Background. Congenital intestinal lymphangiectasia is a disease which leads to protein losing enteropathy. Tortous, dilated lymphatic vessels in the intestinal wall and mesenterium are typical features of the disease. Clinical manifestations include malabsorption, diarrhea, steatorrhea, edema and effusions. Specific diet and medication are required for disease control. Case report. A 19-year old male patient was hospitalized due to diarrhea, abdominal swelling, weariness and fatigue. Physical examination revealed growth impairment, ascites, and lymphedema of the right hand and forearm. Laboratory assessment indicated iron deficiency anaemia, lymphopenia, malabsorption, inflammatory syndrome, and urinary infection. Enteroscopy and video capsule endoscopy demonstrated dilated lymphatic vessels in the small intestine. The diagnosis was confirmed by intestinal biopsy. The patient was put on high-protein diet containing medium-chain fatty acids, somatotropin and suportive therapy. Conclusion. Congenital intestinal lymphangiectasia is a rare disease, usually diagnosed in childhood. Early recognition of the disease and adequate treatment can prevent development of various complications.

  3. [Congenital intestinal lymphangiectasia].

    Science.gov (United States)

    Popović, Dugan D j; Spuran, Milan; Alempijević, Tamara; Krstić, Miodrag; Djuranović, Srdjan; Kovacević, Nada; Damnjanović, Svetozar; Micev, Marjan

    2011-03-01

    Congenital intestinal lymphangiectasia is a disease which leads to protein losing enteropathy. Tortuous, dilated lymphatic vessels in the intestinal wall and mesenterium are typical features of the disease. Clinical manifestations include malabsorption, diarrhea, steatorrhea, edema and effusions. Specific diet and medication are required for disease control. A 19-year old male patient was hospitalized due to diarrhea, abdominal swelling, weariness and fatigue. Physical examination revealed growth impairment, ascites, and lymphedema of the right hand and forearm. Laboratory assessment indicated iron deficiency anaemia, lymphopenia, malabsorption, inflammatory syndrome, and urinary infection. Enteroscopy and video capsule endoscopy demonstrated dilated lymphatic vessels in the small intestine. The diagnosis was confirmed by intestinal biopsy. The patient was put on high-protein diet containing medium-chain fatty acids, somatotropin and supportive therapy. Congenital intestinal lymphangiectasia is a rare disease, usually diagnosed in childhood. Early recognition of the disease and adequate treatment can prevent development of various complications.

  4. Congenital Hepatic Cyst

    Directory of Open Access Journals (Sweden)

    Aldo Recinos

    2017-04-01

    Full Text Available Congenital hepatic cyst is a rare and nonsymptomatic condition in infants and children. Its incidence is 2.5% in the postnatal life with a much lower incidence in the prenatal period. Incidental finding on antenatal imaging is the most common presentation. We present a case of a newborn in whom fetal ultrasound detected a cyst within the fetal liver. Postnatal imaging revealed a liver cyst in the right lobe of the liver, with no other intrahepatic structure affected. Liver function tests were abnormal, but the patient was asymptomatic. Posterior follow-up imaging showed a minor decrease in size. Management of congenital hepatic cyst is usually conservative, done with periodic ultrasound monitoring. However, surgical treatment is the mainstay of treatment when hydrops, progressive enlargement, hemorrhage, torsion, or compression of adjacent structures occurs. Malignant transformation can occur, but it is extremely rare. Partial or total removal of the cyst is the preferred treatment in neonates with a large lesion.

  5. Characterizing Congenital Amusia

    OpenAIRE

    Stewart, Lauren

    2011-01-01

    The ability to make sense of the music in our environment involves sophisticated cognitive mechanisms that, for most people, are acquired effortlessly and in early life. A special population of individuals, with a disorder termed congenital amusia, report lifelong difficulties in this regard. Exploring the nature of this developmental disorder provides a window onto the cognitive architecture of typical musical processing, as well as allowing a study of the relationship between processing of ...

  6. Anomalous Origin of the Left Coronary Artery from the Right Sinus of Valsalva and Sever Mitral Stenosis

    Science.gov (United States)

    Abdi, Ahmadnoor; Hashemi Fard, Omid

    2011-01-01

    Congenital coronary anomalies are presented in approximately1% of patient referred for cardiac catheterization. Among the congenital coronary anomalies, a separated anomalous origin of all the coronary arteries from the right sinus of valsalva is very uncommon. We report a rare occurance of simultaneous occurence of mitral stenosis with ectopic origin of left main stem coronary artery from right sinus of Valsalva. PMID:22577434

  7. Percutaneous transhepatic drainage of lung abscess through a diaphragmatic fistula caused by a penetrating liver abscess.

    Science.gov (United States)

    Taniguchi, Masako; Morita, Satoru; Ueno, Eiko; Hayashi, Mitsutoshi; Ishikawa, Motonao; Mae, Masahiro

    2011-11-01

    Liver abscesses occurring just below the diaphragm can penetrate or perforate the thoracic cavity, resulting in lung abscess or pyothorax. Although surgical or percutaneous transpleural drainage is often required in such cases, the latter approach has some risks, including hemothorax and bronchopleural fistula formation when the cavity is surrounded by normal lung parenchyma. The present report describes a treatment technique of percutaneous transhepatic drainage through the diaphragmatic fistula to avoid the risks of a transpulmonary approach in a case of lung abscess caused by a penetrating liver abscess.

  8. Unusual presentation of adult Marfan syndrome as a complex diaphragmatic hiatus hernia.

    Science.gov (United States)

    Thakur, Shruti; Jhobta, Anupam; Sharma, Brij; Chauhan, Arun; Thakur, Charu S

    2017-07-01

    Marfan syndrome is multisystem connective tissue disorder that primarily involves the skeletal, cardiovascular, and ocular systems. The gastrointestinal complications in Marfan syndrome are rare, with only a few case reports described in the literature. We present a 25-year-old woman who presented with acute abdominal pain for 1 day. The imaging features revealed complex diaphragmatic hiatus hernia with organoaxial gastric volvulus. This is a unique case report about an adult patient with Marfan syndrome who presented with symptomatic paraesophageal hernia and organoaxial gastric volvulus. Copyright © 2014. Published by Elsevier Taiwan.

  9. Unusual presentation of adult Marfan syndrome as a complex diaphragmatic hiatus hernia

    Directory of Open Access Journals (Sweden)

    Shruti Thakur

    2017-07-01

    Full Text Available Marfan syndrome is multisystem connective tissue disorder that primarily involves the skeletal, cardiovascular, and ocular systems. The gastrointestinal complications in Marfan syndrome are rare, with only a few case reports described in the literature. We present a 25-year-old woman who presented with acute abdominal pain for 1 day. The imaging features revealed complex diaphragmatic hiatus hernia with organoaxial gastric volvulus. This is a unique case report about an adult patient with Marfan syndrome who presented with symptomatic paraesophageal hernia and organoaxial gastric volvulus.

  10. Acute diaphragmatic paralysis caused by chest-tube trauma to phrenic nerve

    Energy Technology Data Exchange (ETDEWEB)

    Nahum, E.; Ben-Ari, J.; Schonfeld, T. [Pediatric Intensive Care Unit, Schneider Children' s Medical Center of Israel, Petah Tiqva (Israel); Horev, G. [Dept. of Diagnostic Radiology, Schneider Children' s Medical Center of Israel, Petah Tiqva (Israel); Sackler Faculty of Medicine, Tel Aviv University, Tel Aviv (Israel)

    2001-06-01

    A 3{sup 1}/{sub 2}-year-old child developed unilateral diaphragmatic paralysis after chest drain insertion. Plain chest X-ray demonstrated paravertebral positioning of the chest-tube tip, and magnetic resonance imaging revealed hematomas in the region of the chest-tube tip and the phrenic nerve fibers. The trauma to the phrenic nerve was apparently secondary to malposition of the chest tube. This is a rare complication and has been reported mainly in neonates. Radiologists should notify the treating physicians that the correct position of a chest drain tip is at least 2 cm distant from the vertebrae. (orig.)

  11. Acute diaphragmatic paralysis caused by chest-tube trauma to phrenic nerve

    International Nuclear Information System (INIS)

    Nahum, E.; Ben-Ari, J.; Schonfeld, T.; Horev, G.

    2001-01-01

    A 3 1 / 2 -year-old child developed unilateral diaphragmatic paralysis after chest drain insertion. Plain chest X-ray demonstrated paravertebral positioning of the chest-tube tip, and magnetic resonance imaging revealed hematomas in the region of the chest-tube tip and the phrenic nerve fibers. The trauma to the phrenic nerve was apparently secondary to malposition of the chest tube. This is a rare complication and has been reported mainly in neonates. Radiologists should notify the treating physicians that the correct position of a chest drain tip is at least 2 cm distant from the vertebrae. (orig.)

  12. The heart: Congenital disease

    International Nuclear Information System (INIS)

    Higgins, C.B.

    1987-01-01

    The most important diagnostic requirement in congenital heart disease (CHD) is definition of cardiovascular pathoanatomy. The considerable success in operative correction of even the most complex anomalies in recent years compels ever increasing precision in preoperative demonstration of these anomalies. Early experience with magnetic resonance imaging (MRI) at several institutions indicated that this modality is an effective noninvasive technique for evaluation of CHD. Indeed, MRI seems to have some advantage over other techniques, including angiography, for definitive diagnosis of congenital anomalies of the heart and great arteries and veins. The absence of ionizing radiation and contrast medium in MRI is an additional advantage; the former is particularly important for children, who, up to this time, have frequently been subjected to enormous radiation burdens from multiple cineangiograms during initial diagnosis and follow-up. This chapter describes the MRI appearance of cardiovascular anatomy im the segmental fashion proposed for analysis of complex CHD. Likewise, MRI demonstration of congenital cardiovascular lesions is organized into abnormalities situated at the four segmental cardiovascular levels: great vessels, atria, ventricles, and visceroatrial relationship. The role of MRI in evaluation of complex ventricular anomalies such as single ventricle and thoracic aortic abnormalities is specifically described

  13. The importance of social media for patients and families affected by congenital anomalies: A Facebook cross-sectional analysis and user survey.

    Science.gov (United States)

    Jacobs, Robyn; Boyd, Leanne; Brennan, Kirsty; Sinha, C K; Giuliani, Stefano

    2016-11-01

    We aimed to define characteristics and needs of Facebook users in relation to congenital anomalies. Cross-sectional analysis of Facebook related to four congenital anomalies: anorectal malformation (ARM), congenital diaphragmatic hernia (CDH), congenital heart disease (CHD) and hypospadias/epispadias (HS/ES). A keyword search was performed to identify relevant Groups/Pages. An anonymous survey was posted to obtain quantitative/qualitative data on users and their healthcare needs. 54 Groups and 24 Pages were identified (ARM: 10 Groups; CDH: 9 Groups, 7 Pages; CHD: 32 Groups, 17 Pages; HS/ES: 3 Groups), with 16,191 Group members and 48,766 Page likes. 868/1103 (79%) of respondents were parents. Male:female ratio was 1:10.9. 65% of the users were 26-40years old. Common reasons for joining these Groups/Pages included: seeking support, education, making friends, and providing support to others. 932/1103 (84%) would like healthcare professionals (HCPs) to actively participate in their Group. 31% of the respondents felt that they did not receive enough support from their healthcare system. 97% of the respondents would like to join a Group linked to their primary hospital. Facebook Groups/Pages related to congenital anomalies are highly populated and active. There is a need for HCPs and policy makers to better understand and participate in social media to support families and improve patient care. Copyright © 2016 Elsevier Inc. All rights reserved.

  14. Radiology of congenital heart disease

    International Nuclear Information System (INIS)

    Amplatz, K.

    1986-01-01

    This is a text on the radiologic diagnosis of congenital heart disease and its clinical manifestations. The main thrust of the book is the logical approach which allows an understanding of the complex theory of congenital heart disease. The atlas gives a concise overview of the entire field of congenital heart disease. Emphasis is placed on the understanding of the pathophysiology and its clinical and radiological consequences. Surgical treatment is included since it provides a different viewpoint of the anatomy

  15. [Rare case of congenital cystic adenomatoid malformation associated with polycystic kidney disease].

    Science.gov (United States)

    Jabłoński, Janusz; Jankowski, Zbigniew; Sitkiewicz, Anna; Lewandowska, Małgorzata; Andrzejewska, Ewa

    2011-01-01

    Congenital cystic adenomatoid malformation (CCAM) is a rare pulmonary abnormality that results from aberrant fetal lung development. It about 4-26% of cases it can be associated with other congenital abnormalities. We describe a case of congenital cystic adenomatoid malformation 2 associated with polycystic kidney disease. The association of these two congenital malformations is exceptional. Only four similar cases have been reported in the literature. A 2-year-old girl was referred to the Department of Paediatric Surgery and Oncology Medical University of Lodz with pneumonia and left pneumothorax. For three weeks prior to referral the patient was treated with antibiotics. Chest x-ray revealed hyperinflation of left upper lobe with mediastinal shift to right. Computer tomographic scan of the lung revealed multiple cyst in the left upper lobe, left-site pneumothorax and mediastinal shift to the right. The patient underwent thoracotomy. Intraoperatively, multiple cysts in the left upper lobe were found and left upper lobectomy was performed. Histologic study was compatible with type 2 congenital cystic adenomatoid malformation. Ultrasound examination showed multilocular cysts in both kidneys. The dimensions of the cysts were: MWR4. 54x45x45 mm and 25x21x24 mm on the left and right sides, respectively. Significant increase in cyst size on the left side was observed. Ten months after first hospitalization resection of the cystic lower pole of the left kidney was performed. The presence of even a single renal cyst in a child with CCAM is an indication for further follow up examinations.

  16. Lung herniation into pericardial cavity: A case of partial congenital absence of right pericardium

    Directory of Open Access Journals (Sweden)

    Sadashiv B Tamagond

    2012-01-01

    Full Text Available Congenital absence of pericardium is rarely seen, often diagnosed intraoperatively during cardiac and thoracic surgeries. Left-sided pericardial defects are more common than right-sided ones. We present a case of an incidentally detected congenital absence of right pericardium with herniation of part of the right lung during ventricular septal defect closure surgery in a male child aged 4 years.

  17. The multiple brain abscesses associated with congenital pulmonary arteriovenous malformations: a case report.

    OpenAIRE

    Han, Seok; Lim, Dong-Jun; Chung, Yong-Gu; Cho, Tai-Hyoung; Lim, Seong-Jun; Kim, Woo-Jae; Park, Jung-Yul; Suh, Jung-Keun

    2002-01-01

    In this report, we describe a case of multiple brain abscesses associated with diffuse congenital pulmonary arteriovenous malformations (PAVM). Although the cases of brain abscesses associated with congenital PAVM are very rare, the brain abscess could be an initial clinical manifestation in asymptomatic PAVM as in the case presented in this report. PAVM may contribute to the development of a brain abscess by allowing easy bacterial access to systemic circulation through the right-to-left pul...

  18. Surgical Treatment for a Complex Congenital Arteriovenous Malformation of the Lower Limb

    OpenAIRE

    Ozcan, Ali Vefa; Boysan, Emre; Isikli, Osman Yasar; Goksin, Ibrahim

    2013-01-01

    Arteriovenous fistula is defined as an abnormal communication between the arterial and venous systems. The complexity of congenital arteriovenous malformations makes treatment challenging. We present the case of a 23-year-old woman who had a complex congenital arteriovenous malformation in her left leg and a history of 2 unsuccessful coil-embolization procedures. We ligated all the feeding arteries of the arteriovenous malformation in the region of the superficial femoral artery, and the surg...

  19. Early detection of congenital syphilis

    Directory of Open Access Journals (Sweden)

    Nagalakshmi Chowdhary

    2014-01-01

    Full Text Available Late congenital syphilis is a very rare clinical entity, and its early diagnosis and treatment is essential. Dental findings often provide valuable evidence for the diagnosis of late congenital syphilis. It occurs due to the transmission of the disease from an infected mother to her fetus through placenta. This long forgotten disease continues to effect pregnant women resulting in perinatal morbidity and mortality. Congenital syphilis is a preventable disease, and its presence reflects a failure of prenatal care delivery system, as well as syphilis control programs. We are reporting a case of late congenital syphilis with only Hutchinson′s teeth.

  20. Long QT in children with congenital deafness: a brief report

    Directory of Open Access Journals (Sweden)

    Naseraldin Akbari Asbagh

    2013-08-01

    Full Text Available Background: Long QT syndromes (LQT are genetic abnormalities of ventricular repo-larization, with an estimated incidence of about one per 10000 births. It is characterized by prolongation of the QT interval in electrocardiogram (EKG and associated with a high risk for syncope and sudden death in patients. Type of this syndrome is association with congenital deafness. Our objective was to evaluate QT interval in children with congenital deafness.Methods: For 219 patients referred to Imam Khomeini Hospital audiometric clinic in 2011, questionnaire were completed. A total of 23 congenitally deaf children were incl-uded. All patients’ examinations were done by a pediatric cardiologist. Electrocardio-gram is conducted in all children (23 patients with sever and deep congenital deafness. Then the QT interval was measured based on Bazett’s formula. Echocardiography was also performed in these children to assess left ventricular function and the presence of mitral valve prolapse.Results: The overall patients were two hundred and nineteen children. A total of twenty three congenitally deaf children were included and electrocardiogram was obtained. Three children had obviously prolonged QTc (0.48±0.02 second. The median age of them was 6.1±5 year, the median weight was 18±11.3 kilogram and the median of QT interval was 0.48±0.02 second.Conclusion: The QT interval obtained 0.48±0.02 second. In the present study we found prolonged QT in congenital deafness, thus we recommend to evaluate the electrocardio-gram of children with congenital deafness.

  1. Genetics Home Reference: congenital mirror movement disorder

    Science.gov (United States)

    ... Health Conditions Congenital mirror movement disorder Congenital mirror movement disorder Printable PDF Open All Close All Enable ... view the expand/collapse boxes. Description Congenital mirror movement disorder is a condition in which intentional movements ...

  2. Congenital heart disease screening: which referral factors are most important

    International Nuclear Information System (INIS)

    Fayyaz, A.; Ahmed, W.

    2013-01-01

    To identify the referral factors for fetal echocardiography which are associated with congenital cardiac defects in the fetus. Study Design: Cross-sectional descriptive study. Place and Duration of Study: Radiology Department, CMH, Rawalpindi, from January 2007 to November 2010. Methodology: All patients referred for fetal echocardiography with one or more risk factors for the development of congenital heart disease, and those patients with incidental discovery of congenital heart disease on antenatal ultrasound were evaluated. Patients with no risk factors who were found to have normal fetal echocardiography were excluded from the study. Univariate logistic regression analysis was carried out for each variable. The variables with statistical significance of less than 0.05 were subjected to multivariate logistic regression. Fetal echocardiographic diagnosis was taken as the dependent variable and all other variables were the independent variables. Results: Two hundred and sixty four patients were evaluated by fetal echocardiography for congenital heart disease. The statistically significant factor was detection of congenital heart disease on routine ultrasound examination. Conclusion: A routine obstetric scan should include evaluation of the heart with four-chamber and base-of-heart views to exclude cardiac anomalies. A cardiac anomaly picked up on routine ultrasound scan is the most important indication for referral for fetal echocardiography. Fetal arrhythmias and echogenic focus in the left ventricle do not have a significant association with structural cardiac malformation. (author)

  3. Congenital (infantile) pseudarthrosis of the fibula associated with osteofibrous dysplasia

    International Nuclear Information System (INIS)

    Hisaoka, Masanori; Hashimoto, Hiroshi; Ohguri, Takayuki; Aoki, Takatoshi; Okamoto, Sumika; Ishida, Tsuyoshi; Tanaka, Hidetoshi; Okimoto, Nobukazu; Nakamura, Toshitaka

    2004-01-01

    We describe a recently noted association of congenital (infantile) pseudarthrosis of the lower leg with osteofibrous dysplasia. The patient was a 2-year-old boy who presented with a deformed left ankle joint and three cutaneous cafe-au-lait spots. Radiography demonstrated pseudarthrosis of the left distal fibula and a round lucent lesion adjacent to the proximal part of the pseudarthrosis. Histologically, the surgically removed fibula with pseudarthrosis showed a fibromatosis-like fibrovascular proliferation and nonspecific reparative changes. The focal lucent area demonstrated a fibro-osseous lesion, which was histologically identical to osteofibrous dysplasia. This case provides further evidence that osteofibrous dysplasia may be associated with congenital (infantile) pseudarthrosis of the lower leg. (orig.)

  4. Congenital osteofibrous dysplasia associated with pseudoarthrosis of the tibia and fibula

    International Nuclear Information System (INIS)

    Teo, Harvey E.L.; Peh, Wilfred C.G.; Akhilesh, M.; Tan, S.B.; Ishida, T.

    2007-01-01

    The association between congenital pseudoarthrosis and osteofibrous dysplasia of the tibia and fibula is a rare entity that has been recently recognized. We report a male newborn who was found to have swelling and deformity of the left lower leg. Radiographs and magnetic resonance imaging showed an extensive destructive lesion of the tibial shaft, with dysplastic congenital pseudoarthrosis of the lower fibula. Histopathologial examination confirmed the diagnosis of congenital pseudoarthrosis of the tibia and fibula with underlying osteofibrous dysplasia involving both bones. Immunohistochemical stains showed cytokeratin positivity. (orig.)

  5. Retrocrural Lymph Node Metastasis Disclosed by (18)F-FDG PET/CT: A Predictor of Supra-diaphragmatic Spread in Ovarian Cancer.

    Science.gov (United States)

    Im, Hyung-Jun; Kim, Yong-Il; Paeng, Jin Chul; Chung, June-Key; Kang, Soon-Beom; Lee, Dong Soo

    2012-03-01

    Retrocrural lymph nodes (RCLNs) communicate with retroperitoneal and posterior mediastinal LNs. It is possible that, when RCLNs are involved, supra-diaphragmatic extension will occur in abdomino-pelvic cancers. The authors investigated performance of (18)F-FDG PET/CT to diagnose RCLN metastasis and whether RCLN metastases were associated with supra-diaphragmatic lymphatic metastases of ovarian cancer. Sixty-seven patients with stage IV ovarian cancer who had undergone (18)F-FDG PET/CT were included in this retrospective study. Diagnostic performance of (18)F-FDG PET/CT for RCLN metastasis was evaluated. Patients were divided into two groups by presence or absence of supra-diaphragmatic LN metastasis. The prevalences of RCLN metastasis between the two groups were compared and the odds ratio was calculated. Sensitivity and specificity of (18)F-FDG PET/CT for RCLN metastasis were 96.3 and 100%, respectively. Of the 67 study subjects, 27 patients had RCLN metastases (40.3%). Fifty patients had supra-diaphragmatic LN metastases. (18)F-FDG PET/CT showed 26 RCLN metastases in patients with supra-diaphragmatic LN metastases (54.5%), and only 1 in patients without supra-diaphragmatic LN metastasis (5.9%), and the difference between two groups was statistically significant (P supra-diaphragmatic LN metastasis was 17.3 (95% confidence interval = 2.1 to 140.9, P = 0.008). Performance of (18)F-FDG PET/CT to diagnose RCLN metastasis was excellent. RCLN metastasis revealed by (18)F-FDG PET/CT was strongly associated with supra-diaphragmatic LN spread of ovarian cancer. Thus, RCLN metastasis could be used as a predictor of supra-diaphragmatic lymphatic metastasis of ovarian cancer.

  6. Epidemiology and Outcome of Major Congenital Malformations in a Large German County.

    Science.gov (United States)

    Wittekindt, Boris; Schloesser, Rolf; Doberschuetz, Nora; Salzmann-Manrique, Emilia; Grossmann, Jasmin; Misselwitz, Bjoern; Rolle, Udo

    2018-05-01

    Congenital malformations are associated with substantial neonatal morbidity and mortality. Furthermore, only sparse data are available on the modalities of care provided to and the associated clinical outcomes in affected neonates. In this study, we focused on five malformations that require surgery during the neonatal period: duodenal stenosis and atresia (DA), gastroschisis (GA), omphalocele (OM), congenital diaphragmatic herniation (CDH), and esophageal atresia (EA).  We reviewed the Hessian neonatal registry (2010-2015) to identify records including the ICD-10 (International Classification of Diseases, Tenth Edition) codes for the aforementioned diagnoses and identified 283 patients who were affected by at least one of these conditions. Multiple regression analyses were performed to further identify risk factors for mortality and extended length of hospital stay.  The incidence rates per 10,000 live births and inhospital mortality rates were as follows: DA: 1.79 and 3.6%; GA: 1.79 and 1.8%; OM: 1.60 and 24%; CDH: 1.32 and 27.5%; and EA: 2.67 and 11.1%, respectively. Thirty-three percent of the patients had not been born in a perinatal center in which corrective surgeries were performed. The following risk factors were significantly associated with early mortality: trisomy 13 and 18, congenital heart defects, prematurity, and high-risk malformations (OM and CDH). The predictors of length of stay were as follows: gestational age, number of additional malformations, and treatment in the center with the highest patient volume.  Epidemiology and outcome of major congenital malformations in Hesse, Germany, are comparable to previously published data. In addition, our data revealed a volume-outcome association with regard to the length of hospital stay. Georg Thieme Verlag KG Stuttgart · New York.

  7. Surgical Outcomes of Pneumatic Compression Using Carbon Dioxide Gas in Thoracoscopic Diaphragmatic Plication.

    Science.gov (United States)

    Ahn, Hyo Yeong; Kim, Yeong Dae; Hoseok, I; Cho, Jeong Su; Lee, Jonggeun; Son, Joohyung

    2016-12-01

    Surgical correction needs to be considered when diaphragm eventration leads to impaired ventilation and respiratory muscle fatigue. Plication to sufficiently tense the diaphragm by VATS is not as easy to achieve as plication by open surgery. We used pneumatic compression with carbon dioxide (CO 2 ) gas in thoracoscopic diaphragmatic plication and evaluated feasibility and efficacy. Eleven patients underwent thoracoscopic diaphragmatic plication between January 2008 and December 2013 in Pusan National University Hospital. Medical records were retrospectively reviewed, and compared between the group using CO 2 gas and group without using CO 2 gas, for operative time, plication technique, duration of hospital stay, postoperative chest tube drainage, pulmonary spirometry, dyspnea score pre- and postoperation, and postoperative recurrence. The improvement of forced expiratory volume at 1 second in the group using CO 2 gas and the group not using CO 2 gas was 22.46±11.27 and 21.08±5.39 (p=0.84). The improvement of forced vital capacity 3 months after surgery was 16.74±10.18 (with CO 2 ) and 15.6±0.89 (without CO 2 ) (p=0.03). During follow-up (17±17 months), there was no dehiscence in plication site and relapse. No complications or hospital mortalities occurred. Thoracoscopic plication under single lung ventilation using CO 2 insufflation could be an effective, safe option to flatten the diaphragm.

  8. Surgical Outcomes of Pneumatic Compression Using Carbon Dioxide Gas in Thoracoscopic Diaphragmatic Plication

    Directory of Open Access Journals (Sweden)

    Hyo Yeong Ahn

    2016-12-01

    Full Text Available Background: Surgical correction needs to be considered when diaphragm eventration leads to impaired ventilation and respiratory muscle fatigue. Plication to sufficiently tense the diaphragm by VATS is not as easy to achieve as plication by open surgery. We used pneumatic compression with carbon dioxide (CO2 gas in thoracoscopic diaphragmatic plication and evaluated feasibility and efficacy. Methods: Eleven patients underwent thoracoscopic diaphragmatic plication between January 2008 and December 2013 in Pusan National University Hospital. Medical records were retrospectively reviewed, and compared between the group using CO2 gas and group without using CO2 gas, for operative time, plication technique, duration of hospital stay, postoperative chest tube drainage, pulmonary spirometry, dyspnea score pre- and postoperation, and postoperative recurrence. Results: The improvement of forced expiratory volume at 1 second in the group using CO2 gas and the group not using CO2 gas was 22.46±11.27 and 21.08±5.39 (p=0.84. The improvement of forced vital capacity 3 months after surgery was 16.74±10.18 (with CO2 and 15.6±0.89 (without CO2 (p=0.03. During follow-up (17±17 months, there was no dehiscence in plication site and relapse. No complications or hospital mortalities occurred. Conclusion: Thoracoscopic plication under single lung ventilation using CO2 insufflation could be an effective, safe option to flatten the diaphragm.

  9. Video-assisted thoracoscopy for diaphragmatic plication: experimental study in a canine model.

    Science.gov (United States)

    Gonzalez-Zamora, Jose F; Perez-Guille, Beatriz; Soriano-Rosales, Rosa E; Jimenez-Bravo-Luna, Miguel A; Gutierrez-Castrellon, Pedro; Ridaura-Sanz, Cecilia; Alvarez, Fernando Villegas

    2005-12-01

    Plication of a nonfunctional hemidiaphragm usually restores altered ventilatory mechanics. This study compared two techniques in performing diaphragmatic plication: video-assisted thoracoscopy (group A) and thoracotomy (group B). Twenty dogs with induced paralysis of the right hemidiaphragm were randomly assigned to one of the two groups. Evaluations were performed before and after plication of the respiratory frequency (f) and lung area (LA) of the affected side. Operative time, time to resumption of walking, ingestion of fluids and solid food, pain intensity, and postoperative complications were measured. Group A had less pain after the surgery (P fluid ingestion (P < 0.05), and earlier resumption of walking (P < 0.019). Four weeks after the procedure, LA was similar in both groups, while a significant decrease in f was recorded in group A (P < 0.02). The remaining evaluated variables showed no differences. Both approaches were effective. Pain recorded in the postoperative period was less and recovery was faster in group A. Complications and surgical times were similar. The video-assisted thoracoscopy is a safe and efficient option for performing diaphragmatic plication in dogs.

  10. Interval between injection of contrast material and positive contrast cheliography affects accurate diagnosis of diaphragmatic hernia

    Directory of Open Access Journals (Sweden)

    Ismail A. Sen

    2015-01-01

    Full Text Available The aim of this study was to evaluate the clinical, surgical and diagnostic imaging findings in 11 cats and 3 dogs with suspected acute and chronic traumatic diaphragmatic hernia, and to compare the results of positive contrast cheliography (peritoneography taken immediately and 5 min after the injection of contrast material. Thoracic and abdominal radiography, ultrasonography, and positive contrast cheliography of all animals were performed. Eight cases were considered as acute and six cases were considered chronic. The contrast images taken immediately after the injection of contrast material revealed the contrast material in the thoracic cavity in 8/8 acute trauma patients, but in none of the chronic cases. In 5/6 of these cases contrast material was seen in the thoracal cavity only in additional images taken after 5 min. One patient was diagnosed with FIP and excluded from the study. Twelve cases had complete resolution and one animal died during the early postoperative period. Our results suggest that positive contrast cheliography performed immediately after the injection of contrast material may not reveal chronic cases of diaphragmatic hernia and a second imaging (or imaging after 5 min is indicated in order not to overlook chronic cases.

  11. Sirenomelia: A Rare Case of Foetal Congenital Anomaly

    OpenAIRE

    Dharmraj, Meena; Gaur, Sumitra

    2012-01-01

    Sirenomelia, alternatively known as ?mermaid syndrome? is a very rare congenital deformity in which the legs are fused together, giving them the appearance of the tail of a mermaid?. Other birth defects are always associated with sirenomelia, most commonly abnormalities of the kidneys, large intestines, and genitalia. The present case is a one of sirenomelia associated with an absent right kidney, mild left hydronephrosis, single umbilical artery, and severe oligohydramnios. We discuss the fi...

  12. Sirenomelia: a rare case of foetal congenital anomaly.

    Science.gov (United States)

    Dharmraj, Meena; Gaur, Sumitra

    2012-10-01

    Sirenomelia, alternatively known as 'mermaid syndrome' is a very rare congenital deformity in which the legs are fused together, giving them the appearance of the tail of a mermaid'. Other birth defects are always associated with sirenomelia, most commonly abnormalities of the kidneys, large intestines, and genitalia. The present case is a one of sirenomelia associated with an absent right kidney, mild left hydronephrosis, single umbilical artery, and severe oligohydramnios. We discuss the findings, relative to the present literature and related etiopathogenesis.

  13. Molecular and Genetic Studies of Congenital Myopathies

    Science.gov (United States)

    2018-03-21

    Central Core Disease; Centronuclear Myopathy; Congenital Fiber Type Disproportion; Multiminicore Disease; Myotubular Myopathy; Nemaline Myopathy; Rigid Spine Muscular Dystrophy; Undefined Congenital Myopathy

  14. Genetics Home Reference: Fukuyama congenital muscular dystrophy

    Science.gov (United States)

    ... with mental retardation Muscular dystrophy, congenital, Fukuyama type Muscular dystrophy, congenital, with central nervous system involvement Polymicrogyria with muscular dystrophy Related Information How ...

  15. Congenital, solitary, large, intrahepatic arterioportal fistula in a child: management and review of the literature

    Energy Technology Data Exchange (ETDEWEB)

    Kumar, Nagappan; de Ville de Goyet, Jean; Sharif, Khalid; McKiernan, Patrick [Liver Unit, Birmingham Children' s Hospital NHS Trust, Steelhouse Lane, Birmingham B4 6NH (United Kingdom); John, Philip [Department of Radiology, Birmingham Children' s Hospital NHS Trust, Birmingham (United Kingdom)

    2003-01-01

    Congenital intrahepatic arterioportal fistula (APF) is a rare condition. In most cases, the symptoms and complications develop during infancy. We report here the incidental finding of a large and solitary congenital APF in a 13-year-old boy, with subsequent related clinical complications. At angiography, an APF connecting the left hepatic artery and the left branch of the portal vein (PV) was demonstrated with reversed flow in the left and main PV. The fistula was successfully occluded, in a single embolisation session, using an Amplatzer occlusion device. This was associated with immediate restoration of normal hepatopetal flow in the PV and followed by resolution of the clinical signs of portal hypertension. This patient is the oldest child with congenital intrahepatic APF to be reported. We emphasise the interest of using a large device (Amplatzer) to occlude a solitary large APF in a single session and, more importantly, to avoid other possible complications related to embolisation. (orig.)

  16. Quantification of renal and diaphragmatic interfractional motion in pediatric image-guided radiation therapy: A multicenter study

    NARCIS (Netherlands)

    Huijskens, Sophie C.; van Dijk, Irma W. E. M.; de Jong, Rianne; Visser, Jorrit; Fajardo, Raquel Dávila; Ronckers, Cécile M.; Janssens, Geert O. R. J.; Maduro, John H.; Rasch, Coen R. N.; Alderliesten, Tanja; Bel, Arjan

    2015-01-01

    To quantify renal and diaphragmatic interfractional motion in order to estimate systematic and random errors, and to investigate the correlation between interfractional motion and patient-specific factors. We used 527 retrospective abdominal-thoracic cone beam CT scans of 39 childhood cancer

  17. Quantification of renal and diaphragmatic interfractional motion in pediatric image-guided radiation therapy: A multicenter study

    NARCIS (Netherlands)

    Huijskens, S.C.; Dijk, I.W. van; Jong, R. de; Visser, J.; Fajardo, R.D.; Ronckers, C.M.; Janssens, G.O.R.J.; Maduro, J.H.; Rasch, C.R.; Alderliesten, T.; Bel, A.

    2015-01-01

    BACKGROUND AND PURPOSE: To quantify renal and diaphragmatic interfractional motion in order to estimate systematic and random errors, and to investigate the correlation between interfractional motion and patient-specific factors. MATERIAL AND METHODS: We used 527 retrospective abdominal-thoracic

  18. Prevalence of Congenital Malformations

    Directory of Open Access Journals (Sweden)

    Akhavan Karbasi Sedighah

    2009-05-01

    Full Text Available Congenital malformation (CM will begin to emerge as one of the major childhood health problems .Treatment and rehabilitation of children with congenital malformations are costly and complete recovery is usually impossible. The aim of this study was to determine frequency of CM in Yazd central city of the Islamic Republic of Iran to find out if there has been any difference in the rate and types of CM in this area. This descriptive-observational study carried on 4800 births delivered at all maternity hospitals in Yazd from October 2003 to June 2004. Prevalence of CM was 2.83% (2.86 % in male and 2.68 % in female out of the 136 cases 69(51.88% were males and 64 (48.12% were females and 3 with ambiguous genitalia. Positive family history of CM in sibling was in only 6 cases (4.41%.Overall, musculoskeletal (0.83%, central nerv-ous system (0.47% and genital system (0.37% were accounted as the most common. Frequency of CM was more seen in still birth (12.5% as in comparison to live birth (2.71%. There was not statistical difference be-tween prevalence of CM and neonatal's gender, gestational age, birth order and mother's age, drug ingestion, illness and parental consanguinity. In this study the overall prevalence of congenital malformation among the newborn was higher than those previous reported in Iran and determining the causes of this difference needs more extensive studies.

  19. Congenital Midureteric Stricture

    Directory of Open Access Journals (Sweden)

    Singh Shalinder

    2001-01-01

    Full Text Available Congenital midureteric obstruction is a rare entity which can be caused by either ureteric valves or strictures. We report our experience with four patients with midureteric obstruction due to stricture over a six-year period. The condition needs to be differentiated from obstruction of the pelviureteric and vesicoureteric junctions. Obstruction can be initially screened by ultrasound and confirmed by a radionuclide scan with furosemide challenge. Retrograde ureteropyelography and/or intravenous urography may be required to define the level of the stricture.

  20. Nonclassic Congenital Adrenal Hyperplasia

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    Selma Feldman Witchel

    2010-01-01

    Full Text Available Nonclassic congenital adrenal hyperplasia (NCAH due to P450c21 (21-hydroxylase deficiency is a common autosomal recessive disorder. This disorder is due to mutations in the CYP21A2 gene which is located at chromosome 6p21. The clinical features predominantly reflect androgen excess rather than adrenal insufficiency leading to an ascertainment bias favoring diagnosis in females. Treatment goals include normal linear growth velocity and “on-time” puberty in affected children. For adolescent and adult women, treatment goals include regularization of menses, prevention of progression of hirsutism, and fertility. This paper will review key aspects regarding pathophysiology, diagnosis, and treatment of NCAH.

  1. Congenital Syphilis Masquerading as Leukemia

    OpenAIRE

    Lee, Tiffany; Bell, Stephanie; Scimeme, Jason; Maraqa, Nizar

    2017-01-01

    As of late, the incidence of congenital syphilis in the United States is increasing. Each new case represents a failure of preventing, diagnosing, and treating syphilis in pregnant women. Pediatricians should confirm that all women have received adequate screening for and management of syphilis during pregnancy. Congenital syphilis is easily treatable but may be a diagnostic challenge with high morbidity and mortality.

  2. What Are Congenital Heart Defects?

    Science.gov (United States)

    ... a baby with a congenital heart defect. Family history and genetics Congenital heart disease is not usually passed along ... you or your child to a specialist in genetic testing. Cardiac MRI to diagnose a ... Factors to review family history, smoking, and medicines that increase your risk of ...

  3. Isolated left-sided pulmonary artery agenesis with left lung hypoplasia: A report of two cases

    Directory of Open Access Journals (Sweden)

    V Govindaraj

    2017-01-01

    Full Text Available Unilateral absence of pulmonary artery or pulmonary artery agenesis (UAPA is a rare congenital malformation that can present as an isolated lesion or in association with other cardiac anomalies. Though congenital, presentation in adults are also reported. Most common presentation in adults is of exercise intolerance. The developing lung on the affected side is hypoplastic. Diagnosis of UAPA is established by imaging methods like CT and MRI . There is no specific treatment for this condition. Treatment depends on patients symptomatology, presence of pulmonary hypertension and collateral circulation. Presence of pulmonary hypertension carries a bad prognosis. We present two adult patients with isolated left sided unilateral pulmonary artery agenesis with ipsilateral lung hypoplasia. The diagnosis was confirmed by CT chest and perfusion scan.

  4. [Neonatal tumours and congenital malformations].

    Science.gov (United States)

    Berbel Tornero, O; Ortega García, J A; Ferrís i Tortajada, J; García Castell, J; Donat i Colomer, J; Soldin, O P; Fuster Soler, J L

    2008-06-01

    The association between pediatric cancer and congenital abnormalities is well known but, there is no exclusive data on the neonatal period and the underlying etiopathogenic mechanisms are unknown. First, to analyze the frequency of neonatal tumours associated with congenital abnormalities; and second, to comment on the likely etiopathogenic hypotheses of a relationship between neonatal tumours and congenital abnormalities. Historical series of neonatal tumours from La Fe University Children's Hospital in Valencia (Spain), from January 1990 to December 1999. Histological varieties of neonatal tumours and associated congenital abnormalities were described. A systematic review of the last 25 years was carried out using Medline, Cancerlit, Index Citation Science and Embase. The search profile used was the combination of "neonatal/congenital-tumors/cancer/neoplasms" and "congenital malformations/birth defects". 72 neonatal tumours were identified (2.8% of all pediatric cancers diagnosed in our hospital) and in 15 cases (20.8%) there was some associated malformation, disease or syndrome. The association between congenital abnormalities and neonatal tumours were: a) angiomas in three patients: two patients with congenital heart disease with a choanal stenosis, laryngomalacia; b) neuroblastomas in two patients: horseshoe kidney with vertebral anomalies and other with congenital heart disease; c) teratomas in two patients: one with cleft palate with vertebral anomalies and other with metatarsal varus; d) one tumour of the central nervous system with Bochdaleck hernia; e) heart tumours in four patients with tuberous sclerosis; f) acute leukaemia in one patient with Down syndrome and congenital heart disease; g) kidney tumour in one case with triventricular hydrocephaly, and h) adrenocortical tumour: hemihypertrophy. The publications included the tumours diagnosed in different pediatric periods and without unified criteria to classify the congenital abnormalities. Little data

  5. Congenital nystagmus and negative electroretinography

    Directory of Open Access Journals (Sweden)

    Roussi M

    2011-04-01

    Full Text Available Mirella Roussi, Hélène Dalens, Jean Jacques Marcellier, Franck BacinDepartment of Ophthalmology, Clermont-Ferrand University, Clermont-Ferrand, FranceAbstract: Congenital nystagmus is a pathologic oculomotor state appearing at about three to four months of age. The precise diagnosis requires detailed clinical examination and electrophysiological findings. This case report presents two male patients with congenital nystagmus examined longitudinally from the age of six months until 17-18 years of age. Clinical and electrophysiological protocols were detailed. The first results showed electronegative electroretinography in the two cases and examination combined with electroretinographic findings helped us to make the diagnosis of Congenital Night Stationary Blindness (CSNB. This diagnosis was confirmed by genetic studies. CSNB is interesting to study because through electrophysiological findings, it enables a better understanding of the physiology of neural transmission in the outer part of the retina.Keywords: Congenital nystagmus, negative electroretinography, congenital night stationary blindness

  6. Congenital Leukemia in Down's syndrome

    International Nuclear Information System (INIS)

    Iqbal, W.; Khan, F.; Muzaffar, M.; Khan, U. A.; Rehman, M. U.; Khan, M. A.; Bari, A.

    2006-01-01

    Congenital Leukemia is a condition and often associated with fatal outcome/sup 1/. Most of the neonatal cases reported have acute non-lymphoblastic leukemia, in contrast to the predominance of acute lymphoblastic leukemia found in later childhood. congenital leukemia is occasionally associated with number of congenital anomalies and with chromosomal disorders such as Down's syndrome. Subtle cytogenetic abnormalities may occur more commonly in the affected infants and their parents, when studied with newer cytogenetic techniques/sup 2/. Inherent unstable hematopoieses resulting from chromosomal aberration in children with Downs's syndrome can present with transient myeloproliferative disorder, mimicking leukemia which undergoes spontaneous recovery/sup 3/. Only few cases of congenital leukemia with Downs syndrome, presented as congenital leukemia. (author)

  7. Congenital nephrotic syndrome

    Directory of Open Access Journals (Sweden)

    Claudia Fanni

    2014-06-01

    Full Text Available CNS (Congenital nephrotic syndrome is a disorder characterized by the presence of a nephrotic syndrome in the first three months of life. Different pathologies can cause this syndrome. In general, we can distinguish primary forms (sporadic and hereditary and secondary forms (acquired and associated with other syndromes. The most common form is the Finnish CNS (CNF, congenital nephrotic syndrome of the Finnish type, a hereditary form whose name derives from the fact that the highest incidence is described in that country (1.2:10,000. The pathogenesis, the clinical picture, the diagnostic criteria, the therapy and the outcome are described in details.  Proceedings of the International Course on Perinatal Pathology (part of the 10th International Workshop on Neonatology · October 22nd-25th, 2014 · Cagliari (Italy · October 25th, 2014 · The role of the clinical pathological dialogue in problem solving Guest Editors: Gavino Faa, Vassilios Fanos, Peter Van Eyken

  8. Congenital extrahepatic portosystemic shunts

    Energy Technology Data Exchange (ETDEWEB)

    Murray, Conor P.; Yoo, Shi-Joon; Babyn, Paul S. [Department of Diagnostic Imaging, Hospital for Sick Children, 555 University Avenue, M5G 1X8, Toronto, Ontario (Canada)

    2003-09-01

    A congenital extrahepatic portosystemic shunt (CEPS) is uncommon. A type 1 CEPS exists where there is absence of intrahepatic portal venous supply and a type 2 CEPS where this supply is preserved. The diagnosis of congenital portosystemic shunt is important because it may cause hepatic encephalopathy. To describe the clinical and imaging features of three children with CEPS and to review the cases in the published literature. The diagnostic imaging and medical records for three children with CEPS were retrieved and evaluated. An extensive literature search was performed. Including our cases, there are 61 reported cases of CEPS, 39 type 1 and 22 type 2. Type 1 occurs predominantly in females, while type 2 shows no significant sexual preponderance. The age at diagnosis ranges from 31 weeks of intrauterine life to 76 years. Both types of CEPS have a number of associations, the most common being nodular lesions of the liver (n=25), cardiac anomalies (n=19), portosystemic encephalopathy (n=10), polysplenia (n=9), biliary atresia (n=7), skeletal anomalies (n=5), and renal tract anomalies (n=4). MRI is recommended as an important means of diagnosing and classifying cases of CEPS and examining the associated cardiovascular and hepatic abnormalities. Screening for CEPS in patients born with polysplenia is suggested. (orig.)

  9. Congenital extrahepatic portosystemic shunts

    International Nuclear Information System (INIS)

    Murray, Conor P.; Yoo, Shi-Joon; Babyn, Paul S.

    2003-01-01

    A congenital extrahepatic portosystemic shunt (CEPS) is uncommon. A type 1 CEPS exists where there is absence of intrahepatic portal venous supply and a type 2 CEPS where this supply is preserved. The diagnosis of congenital portosystemic shunt is important because it may cause hepatic encephalopathy. To describe the clinical and imaging features of three children with CEPS and to review the cases in the published literature. The diagnostic imaging and medical records for three children with CEPS were retrieved and evaluated. An extensive literature search was performed. Including our cases, there are 61 reported cases of CEPS, 39 type 1 and 22 type 2. Type 1 occurs predominantly in females, while type 2 shows no significant sexual preponderance. The age at diagnosis ranges from 31 weeks of intrauterine life to 76 years. Both types of CEPS have a number of associations, the most common being nodular lesions of the liver (n=25), cardiac anomalies (n=19), portosystemic encephalopathy (n=10), polysplenia (n=9), biliary atresia (n=7), skeletal anomalies (n=5), and renal tract anomalies (n=4). MRI is recommended as an important means of diagnosing and classifying cases of CEPS and examining the associated cardiovascular and hepatic abnormalities. Screening for CEPS in patients born with polysplenia is suggested. (orig.)

  10. Anomlus pulmonary venous return aaccompanied by normal superior pulmonary veins in the left upper lobe: A case report

    Energy Technology Data Exchange (ETDEWEB)

    Kim, Dong Eon; Kang, Min Jin; Lee, Ji Hae; Bae, Kyung Eun; Kim, Jae Hyung; Kang, Tae Kyung; Kim, Soung Hee; Kim, Ji Young; Jeong, Myeong Ja; Kim, Soo Hyun [Sanggye Paik Hospital, Inje University College of Medicine, Seoul (Korea, Republic of)

    2017-08-15

    Partial anomalous pulmonary venous return is a rare congenital pulmonary venous anomaly, in which some of the pulmonary veins drain into the systemic circulation rather than the left atrium. Many variants of partial anomalous pulmonary venous return have been reported. We present a rare type of partial anomalous pulmonary venous return in which the anomalous left upper lobe pulmonary vein drained into the left innominate vein via the vertical vein, accompanying the left upper lobe pulmonary vein in the normal location.

  11. Anomlus pulmonary venous return aaccompanied by normal superior pulmonary veins in the left upper lobe: A case report

    International Nuclear Information System (INIS)

    Kim, Dong Eon; Kang, Min Jin; Lee, Ji Hae; Bae, Kyung Eun; Kim, Jae Hyung; Kang, Tae Kyung; Kim, Soung Hee; Kim, Ji Young; Jeong, Myeong Ja; Kim, Soo Hyun

    2017-01-01

    Partial anomalous pulmonary venous return is a rare congenital pulmonary venous anomaly, in which some of the pulmonary veins drain into the systemic circulation rather than the left atrium. Many variants of partial anomalous pulmonary venous return have been reported. We present a rare type of partial anomalous pulmonary venous return in which the anomalous left upper lobe pulmonary vein drained into the left innominate vein via the vertical vein, accompanying the left upper lobe pulmonary vein in the normal location

  12. Fatal stroke after completion pneumonectomy for torsion of left upper lobe following left lower lobectomy

    Directory of Open Access Journals (Sweden)

    Apostolakis Efstratios

    2006-09-01

    Full Text Available Abstract Background The lobar torsion after lung surgery is a rare complication with an incidence of 0.09 to 0.4 %. It may occur after twisting of the bronchovascular pedicle of the remaining lobe after lobectomy, usually on the right side. The 180-degree rotation of the pedicle produces an acute obstruction of the lobar bronchus (atelectasis and of the lobar vessels as well. Without prompt treatment it progresses to lobar ischemia, pulmonary infarction and finally fatal gangrene. Case Presentation A 62 years old female patient was admitted for surgical treatment of lung cancer. She underwent elective left lower lobectomy for squamous cell carcinoma (pT2 N0. The operation was unremarkable, and the patient was extubated in the operating room. After eight hours the patient established decrease of pO2 and chest x-ray showed atelectasis of the lower lobe. To establish diagnosis, bronchoscopy was performed, demonstrating obstructed left lobar bronchus. The patient was re-intubated, and admitted to the operating room where reopening of the thoracotomy was performed. Lobar torsion was diagnosed, with the diaphragmatic surface of the upper lobe facing in an anterosuperior orientation. A completion pneumonectomy was performed. At the end of the procedure the patient developed a right pupil dilatation, presumably due to a cerebral embolism. A subsequent brain angio-CT scan established the diagnosis. She died at the intensive care unit 26 days later. Conclusion The thoracic surgeon should suspect this rare early postoperative complication after any thoracic operation in every patient with atelectasis of the neighboring lobe. High index of suspicion and prompt diagnosis may prevent catastrophic consequences, such as, infarction or gangrene of the pulmonary lobe. During thoracic operations, especially whenever the lung or lobe hilum is full mobilized, fixation of the remaining lobe may prevent this life threatening complication.

  13. Adult Congenital Heart Disease with Pregnancy

    Science.gov (United States)

    2018-01-01

    The number of women with congenital heart disease (CHD) at risk of pregnancy is growing because over 90% of them are grown-up into adulthood. The outcome of pregnancy and delivery is favorable in most of them provided that functional class and systemic ventricular function are good. Women with CHD such as pulmonary hypertension (Eisenmenger syndrome), severe left ventricular outflow stenosis, cyanotic CHD, aortopathy, Fontan procedure and systemic right ventricle (complete transposition of the great arteries [TGA] after atrial switch, congenitally corrected TGA) carry a high-risk. Most frequent complications during pregnancy and delivery are heart failure, arrhythmias, bleeding or thrombosis, and rarely maternal death. Complications of fetus are prematurity, low birth weight, abortion, and stillbirth. Risk stratification of pregnancy and delivery relates to functional status of the patient and is lesion specific. Medication during pregnancy and post-delivery (breast feeding) is a big concern. Especially prescribing medication with teratogenicity should be avoidable. Adequate care during pregnancy, delivery, and the postpartum period requires a multidisciplinary team approach with cardiologists, obstetricians, anesthesiologists, neonatologists, nurses and other related disciplines. Caring for a baby is an important issue due to temporarily pregnancy-induced cardiac dysfunction, and therefore familial support is mandatory especially during peripartum and after delivery. Timely pre-pregnancy counseling should be offered to all women with CHD to prevent avoidable pregnancy-related risks. Successful pregnancy is feasible for most women with CHD at relatively low risk when appropriate counseling and optimal care are provided. PMID:29625509

  14. Congenital Malformations Associated with Maternal Diabetes

    Directory of Open Access Journals (Sweden)

    Chih-Ping Chen

    2005-03-01

    Full Text Available Maternal diabetes has toxic effects on the development of the embryo and significantly increases the risk of congenital malformations in humans. The incidence of fetal structural defects caused by maternal pregestational diabetes is three- to fourfold higher than that caused by non-diabetic pregnancy. The congenital malformations associated with diabetic pregnancy arise before the seventh gestational week. Diabetic embryopathy can affect any developing organ system, including the central nervous system (CNS (anencephaly, spina bifida, microcephaly, and holoprosencephaly, skeletal system (caudal regression syndrome, sacral agenesis, and limb defects, renal system (renal agenesis, hydronephrosis, and ureteric abnormalities, cardiovascular system (transposition of the great vessels, ventricular septal defects, atrial septal defects, coarctation of the aorta, cardiomyopathy, and single umbilical artery, and gastrointestinal system (duodenal atresia, anorectal atresia, and small left colon syndrome. Pregnant women with fetuses with diabetic embryopathy may have chronic or unrecognized hyperglycemia and elevated levels of glycerated hemoglobin. This review emphasizes the necessity to consider hyperglycemia-induced teratogenesis during genetic counseling of parents with prenatally detected fetal malformations. Successful preconception counseling for women with diabetes mellitus and metabolic control will reduce birth defects and maternal morbidity.

  15. Lamb congenital lymphatic malformation - a case report

    Directory of Open Access Journals (Sweden)

    Neria Santos

    2014-01-01

    Full Text Available Lymphatic malformations have been rarely reported in literature either in humans or in animals. However, in recent years, concern about these malformations in humans has increased. A five-month-old Rasa Aragonesa male lamb was received at the Ovine Clinical Service of the Veterinary Faculty of Zaragoza, Spain, with a history of cervical protuberances coming from birth. The lamb showed three round swollen lumps (5–12 cm in diameter parallel to the trachea on the left side of the neck. Clinical examination, haematology, ultrasonography, fluid examination and histopathology were performed. No abnormalities were found in blood samples and ultrasound confirmed a multicystic lesion with internal separations. Histological evaluation of the tissue revealed dilated lymphatic vessels and channels in the dermis and hypodermis; some lymphatic vessels were filled with amorphous proteinaceous material and occasional lymphocytes and macrophages. These protuberances were diagnosed as congenital lymphatic malformations. Most of the gross and microscopical lesions were very similar to those described in humans. To the authors’ knowledge, this is the first time that a congenital lymphatic malformation is described in sheep.

  16. Combined mitral valve replacement associated with the Bentall procedure, diaphragmatic hernia repair and reconstruction of the pectus excavatum in a 26-year-old patient with Marfan syndrome.

    Science.gov (United States)

    Stępiński, Piotr; Stankowski, Tomasz; Aboul-Hassan, Sleiman Sebastian; Szymańska, Anna; Marczak, Jakub; Cichoń, Romuald

    2016-06-01

    A 26-year-old man with Marfan syndrome was admitted as an emergency patient with ascending aorta aneurysm, severe mitral and aortic regurgitation, diaphragmatic hernia and pectus excavatum. After completion of diagnostics a combined surgical procedure was performed.

  17. Combined mitral valve replacement associated with the Bentall procedure, diaphragmatic hernia repair and reconstruction of the pectus excavatum in a 26-year-old patient with Marfan syndrome

    OpenAIRE

    St?pi?ski, Piotr; Stankowski, Tomasz; Aboul-Hassan, Sleiman Sebastian; Szyma?ska, Anna; Marczak, Jakub; Cicho?, Romuald

    2016-01-01

    A 26-year-old man with Marfan syndrome was admitted as an emergency patient with ascending aorta aneurysm, severe mitral and aortic regurgitation, diaphragmatic hernia and pectus excavatum. After completion of diagnostics a combined surgical procedure was performed.

  18. Diaphragmatic rupture causing repeated vomiting in a combined abdominal and head injury patient: a case report and review of the literature

    Directory of Open Access Journals (Sweden)

    Symeonidis Dimitrios

    2012-07-01

    Full Text Available Abstract Background Diaphragmatic rupture after blunt abdominal injury is a rare trauma condition. Delayed diagnosis is not uncommon especially in the emergency room setting. Associated injuries often shift diagnosis and treatment priorities towards other more life-threatening conditions. Case presentation We present a challenging case of a young male with combined abdominal and head trauma. Repeated episodes of vomiting dominated on clinical presentation that in the presence of a deep scalp laceration and facial bruising shifted differential diagnosis towards a traumatic brain injury. However, a computed tomography scan of the brain ruled out any intracranial pathology. Finally, a more meticulous investigation with additional imaging studies confirmed the presence of diaphragmatic rupture that justified the clinical symptoms. Conclusions The combination of diaphragmatic rupture with head injury creates a challenging trauma scenario. Increased level of suspicion is essential in order to diagnose timely diaphragmatic rupture in multiple trauma patients.

  19. Fetal chromosome abnormalities and congenital malformations: an ...

    African Journals Online (AJOL)

    The results also showed that Multiple congenital anomalies (MCA) represented among 42.2%, congenital malformation of CNS represents 26.6%, congenital malformation of the skeletal system 20%, congenital polycystic kidney 8.8% and pyloric stenosis in 2.2%. Among the 21 women with abnormal karyotype of amniotic ...

  20. Genetics Home Reference: critical congenital heart disease

    Science.gov (United States)

    ... Facebook Twitter Home Health Conditions Critical congenital heart disease Critical congenital heart disease Printable PDF Open All Close All ... for Disease Control and Prevention: Congenital Heart Defects Disease InfoSearch: Congenital Heart Defects KidsHealth from Nemours Lucile Packard Children's ...

  1. Nutrition in neonatal congenital heart disease

    Directory of Open Access Journals (Sweden)

    Morgan CT

    2013-09-01

    Full Text Available Conall T Morgan,1 Anne Marie Shine,2 Colin J McMahon1 1Department of Pediatric Cardiology, 2Department of Clinical Nutrition and Dietetics, Our Lady's Children's Hospital Crumlin, Dublin, Republic of Ireland Abstract: There are 40,000 infants born in the USA with congenital heart disease annually. Achievement of adequate oral nutrition is difficult in this population. Malnutrition is common. Single ventricle physiology, the risk of necrotizing enterocolitis, and cardiopulmonary bypass prevent the establishment of normal oral feeding patterns. Improved nutrition results in improved surgical outcomes, lower mortality, and shorter hospital stay. In this review, we discuss the challenges this population faces. Keywords: necrotizing enterocolitis, malnutrition, growth failure, hypoplastic left heart

  2. Newborn screening for congenital hypothyroidism in a public sector hospital

    International Nuclear Information System (INIS)

    Ghafoor, F.; Mohsin, S.N.; Mukhtar, S.; Hussain, W.

    2013-01-01

    Background: Congenital hypothyroidism if left untreated results in growth failure, irreversible mental retardation, and cretinism. National neonatal screening programs are therefore, launched to diagnose congenital hypothyroidism and manage it timely. Objectives: To screen new borns for congenital hypothyroidism in two public sector hospitals of Lahore. Study type, settings and duration:Cross sectional descriptive study conducted at departments of Gynae/Obs and Pediatric Shaikh Zayed Hospital and Jinnah Hospital, Lahore from February 2010 to November 2011. Subjects and Methods: Awareness brochures for congenital hypothyroidism were developed and attached with the antenatal card of each pregnant case attending antenatal clinic at Gynae/Obs OPD. Newborns who had stayed in hospital for more than 24 hour, and whose parents consented for heal prick were tested for blood spot thyroid-stimulating hormone. Results were reported within four days and thyroid-stimulating hormone >= 20mIU/L was taken as high value. Parents of those neonates who had high value were contacted to give a fresh sample for confirmation. Confirmed results were provided within next 4-5 days to the parents and treating pediatrician for appropriate treatment. Results: A total of 1357 samples were screened using blood spot thyroid-stimulating hormone and out of these 1330 were normal ( =20mIU/L). These 27 neonates were further tested using confirmatory tests For serum thyroid-stimulating hormone, T3 and T4. After confirmatory tests only one case had congenital hypothyroidism who was referred for treatment. Three cases were suspected to have subclinical hypothyroidism and these were retested after six months which, picked another case of confirmed subclinical hypothyroidism who was referred for treatment. The incidence of congenital hypothyroidism was 2 out of 1357 cases. Conclusion: The screening could pick 2 cases of hypothyroidism from a total of 1357 cases which is high when compared to global rates

  3. Spectrum Of Congenital Heart Disease In Full Term Neonates.

    Science.gov (United States)

    Bibi, Saima; Hussain Gilani, Syed Yasir; Bibi, Shawana

    2018-01-01

    Congenital heart disease is a significant problem world over especially in neonates. Early diagnosis and prompt interventions in neonatal period precludes the mortality associated with this disorder. The objective of this study was to highlight the diversity of congenital cardiac defects in our region so that appropriate interventions are devised to minimize significant morbidity and mortality associated with this disorder. This descriptive cross-sectional study was conducted at the Neonatology Unit of Department of Paediatrics, Ayub Teaching Hospital from January 2015 to December 2016. Approval of ethical committee was taken. All fullterm neonates of either gender who presented in department of neonatology including those delivered in hospital or received from other sources (private settings, home deliveries), diagnosed as having congenital heart disease on echocardiography were included in the study. Preterm neonates of either gender were excluded from the study. Patient characteristics were recorded in a designed proforma. Data was entered in SPSS version 20 and analysed. A total of 89 neonates were included in the study. Mean age of presentation was 6.34±7.058 days and range of 1-28 days. There was a male preponderance with 57 (64%) male patients as compared to 32 (36%) female patients. Ventricular septal defect (VSD) was the commonest cardiac lesion being present in 34 (38.2%) patients. Other defects included complex congenital heart disease in 8 (9%), atrial septal defect (ASD) and transposition of great arteries (TGA) in 7 (7.9%) each, atrioventricular septal defect (AVSD) in 6 (6.7%) and Fallots's tetralogy (TOF) and hypoplastic left heart syndrome in 5 (5.6%) each.. Congenital heart disease is a problem of profound importance. It constitutes approximately one third of the total major congenital malformations. There is a diversity of cardiac lesions in our region that warrant early and prompt interventions so that the disease is recognized and treated at

  4. General Concepts in Adult Congenital Heart Disease.

    Science.gov (United States)

    Mutluer, Ferit Onur; Çeliker, Alpay

    2018-01-20

    Congenital heart disease in adults (adult congenital heart disease) is a growing burden for healthcare systems. While infant mortality due to congenital heart disease in the last four decades decreased by almost 3-fold, adult congenital heart disease prevalence increased by more than 2-fold in United States. Adult congenital heart disease prevalence is expected to increase steadily until 2050 in projections. Adult congenital heart disease is a multifaceted problem with many dimensions. This manuscript aims to provide an overview of the common adult congenital heart diseases and summarize important points in management of these diseases with possible problems and complications that the patients and the physicians face.

  5. General Concepts in Adult Congenital Heart Disease

    Directory of Open Access Journals (Sweden)

    Ferit Onur Mutluer

    2018-02-01

    Full Text Available Congenital heart disease in adults (adult congenital heart disease is a growing burden for healthcare systems. While infant mortality due to congenital heart disease in the last four decades decreased by almost 3-fold, adult congenital heart disease prevalence increased by more than 2-fold in United States. Adult congenital heart disease prevalence is expected to increase steadily until 2050 in projections. Adult congenital heart disease is a multifaceted problem with many dimensions. This manuscript aims to provide an overview of the common adult congenital heart diseases and summarize important points in management of these diseases with possible problems and complications that the patients and the physicians face

  6. Retrocrural Lymph Node Metastasis Disclosed by 18F-FDG PET/CT: A Predictor of Supra-diaphragmatic Spread in Ovarian Cancer

    International Nuclear Information System (INIS)

    Im, Hyung Jun; Kim, Yong il; Paeng, Jin Chul; Chung, June Key; Kang, Soon Beom; Lee, Dong Soo

    2012-01-01

    Retrocrual lymph nodes (RCLNs) communicate with retroperitoneal and posterior mediastinal LNs. It is possible that, when RCLNs are involved, supra diaphragmatic extension will occur in abdomino pelvic cancers. The authors investigated performance of 18F FDG PET/CT to diagnose RCLN metastasis and whether RCLN metastases were associated with supra diaphragmatic lymphatic metastases of ovarian cancer. Sixty seven patients with stage IV ovarian cancer who had undergone 18F FDG PET/CT were included in this retrospective study. Diagnostic performance of 18F FDG PET/CT for RCLN metastasis was evaluated. Patients were divided into two groups by presence or absence of supra diaphragmatic LN metastasis. The prevalences of RCLN metastasis between the two groups were compared and the odds ratio was calculated. Sensitivity and specificity of 18F FDG PET/CT for RCLN metastasis were 96.3 and 100%, respectively. Of the 67 study subjects, 27 patients had RCLN metastases (40.3%). Fifty patients had supra diaphragmatic LN metastases. 18F FDG PET/CT showed 26 RCLN metastases in patients with supra diaphragmatic LN metastases (54.5%), and only 1 in patients without supra diaphragmatic LN metastasis (5.9%), and the difference between two groups was statistically significant (P 18F FDG PET/CT to diagnose RCLN metastasis was excellent. RCLN metastasis revealed by 18F FDG PET/CT was strongly associated with supra diaphragmatic LN spread of ovarian cancer. Thus, RCLN metastasis could be used as a predictor of supra diaphragmatic lymphatic metastasis of ovarian cancer

  7. Congenital cervical bronchogenic cyst: A case report

    Directory of Open Access Journals (Sweden)

    Kiralj Aleksandar

    2015-01-01

    Full Text Available Introduction. Bronchogenic cysts are rare congenital anomalies of the embryonic foregut. They are caused by abnormal budding of diverticulum of the embryonic foregut between the 26th and 40th day of gestation. Bronchogenic cysts can appear in the mediastinum and pulmonary parenchyma, or at ectopic sites (neck, subcutaneous tissue or abdomen. So far, 70 cases of cervical localization of bronchogenic cysts have been reported. Majority of bronchogenic cysts have been diagnosed in the pediatric population. Bronchogenic cysts of the cervical area are generally asymptomatic and symptoms may occur if cysts become large or in case of infection of the cyst. The diagnosis is made based on clinical findings, radiological examination, but histopathologic findings are essential for establishing the final diagnosis. Treatment of cervical bronchogenic cyst involves surgical excision. Case Outline. Authors present a case of a 6-year-old female patient sent by a pediatrician to a maxillofacial surgeon due to asymptomatic lump on the left side of the neck. The patient had frequent respiratory infections and respiratory obstructions. Magnetic resonance imaging (MRI of the neck was performed and a well-circumscribed cystic formation on the left side of the neck was observed, with paratracheal location. The complete excision of the cyst was made transcervically. Histopathological findings pointed to bronchogenic cyst. Conclusion. Cervical bronchogenic cysts are rare congenital malformations. Considering the location, clinical findings and the radiological features, these cysts resemble other cervical lesions. Surgical treatment is important because it is both therapeutic and diagnostic. Reliable diagnosis of bronchogenic cysts is based on histopathological examination.

  8. Postoperative Feeding Difficulties after Repair of Congenital ...

    African Journals Online (AJOL)

    Of these, 24 (37.5%) developed feeding difficulties in the immediate post operative period. The causes of the feeding difficulties were Gastro-oesophageal reflux (GOR) 9, Recurrent diaphragmatic hernia 8, Adhesive intestinal obstruction 4, Poor intestinal motility 2, Campylobacter enteritis, 1, Hypertrophic pyloric stenosis, 1.

  9. An unusual presentation of congenital bronchoesophageal fistula ...

    African Journals Online (AJOL)

    Autopsy revealed pus within the right lung, and a fistulous connection between the oesophagus and an intralobar sequestrated lung. No diaphragmatic hernia or intra-abdominal organ abnormality were seen, and an occipital meningomyelocoele was also confirmed. Key Words: Bronchoesophageal fistula, Hiatus hernia, ...

  10. Profiles in congenital heart disease

    International Nuclear Information System (INIS)

    Freed, M.D.; Keane, J.F.

    1986-01-01

    Pediatric cardiology has made great strides in the diagnosis, management, and correction of complex congenital malformations in the past two decades. The foundation of these advances is a more precise understanding of the physiology and anatomy of complex lesions that has been obtained from cardiac catheterization and angiography. The techniques for catheterization of infants and children have been discussed in another paper. This chapter focuses on brief profiles of some of the more important congenital abnormalities. The incidence cited in the discussion of each abnormality pertains to a population comprises of children and adults referred to The Children's Hospital Medical Center and Peter Bent Brigham Hospital, respectively, for evaluation of congenital heart disease

  11. Congenital high airway obstruction syndrome: MR/US findings, effect on management, and outcome

    Energy Technology Data Exchange (ETDEWEB)

    Mong, Andrew; Johnson, Ann M.; Kramer, Sandra S.; Jaramillo, Diego [Children' s Hospital of Philadelphia, Department of Radiology, Philadelphia, PA (United States); Coleman, Beverly G. [Hospital of the University of Pennsylvania, Department of Radiology, Philadelphia, PA (United States); Hedrick, Holly L.; Flake, Alan; Johnson, Mark; Wilson, R.D.; Adzick, N.S. [Children' s Hospital of Philadelphia, The Center for Fetal Diagnosis and Treatment, Philadelphia, PA (United States); Kreiger, Portia [Children' s Hospital of Philadelphia, Department of Pathology and Laboratory Medicine, Philadelphia, PA (United States)

    2008-11-15

    Congenital high airway obstruction syndrome (CHAOS) is a rare disorder defined as any fetal abnormality that obstructs the larynx or trachea. Prompt airway intervention at delivery after accurate prenatal diagnosis may allow survival of this otherwise fatal condition. To identify prenatal MRI findings in CHAOS, to compare these findings with those of fetal US, to determine if imaging alters diagnosis and management decisions, and to correlate prenatal with postnatal imaging findings. Records and MRI scans of ten fetuses with CHAOS were reviewed, and the findings correlated with outside and same-day fetal US and postnatal imaging findings. Fetal lung volumes were measured on MRI scans. Large lung volumes were found in 90% of the fetuses. Increased lung signal intensity, inverted diaphragm, and a dilated, fluid-filled lower airway were identified in all. The obstruction level was identified in 90%. MRI changed screening US diagnosis in 70%, but was concordant with the tertiary care US imaging in 90%. Seven fetuses were terminated or died in utero, and three fetuses survived after ex utero intrapartum tracheostomy placement. Autopsy or bronchoscopy performed in 60% confirmed CHAOS. Postnatal chest radiographs and CT showed hyperinflation, while US and fluoroscopy showed diminished diaphragmatic motion. MRI demonstrates large lung volumes, increased lung signal intensity, inverted diaphragm, and dilated fluid-filled lower airway, and usually identifies the obstruction level. The degree of correlation between MRI and tertiary prenatal US is high, but CHAOS is frequently misdiagnosed on screening US. Correct diagnosis may enable planned airway management. Voluminous lungs and diaphragmatic abnormalities persist on postnatal imaging. (orig.)

  12. Congenital high airway obstruction syndrome: MR/US findings, effect on management, and outcome

    International Nuclear Information System (INIS)

    Mong, Andrew; Johnson, Ann M.; Kramer, Sandra S.; Jaramillo, Diego; Coleman, Beverly G.; Hedrick, Holly L.; Flake, Alan; Johnson, Mark; Wilson, R.D.; Adzick, N.S.; Kreiger, Portia

    2008-01-01

    Congenital high airway obstruction syndrome (CHAOS) is a rare disorder defined as any fetal abnormality that obstructs the larynx or trachea. Prompt airway intervention at delivery after accurate prenatal diagnosis may allow survival of this otherwise fatal condition. To identify prenatal MRI findings in CHAOS, to compare these findings with those of fetal US, to determine if imaging alters diagnosis and management decisions, and to correlate prenatal with postnatal imaging findings. Records and MRI scans of ten fetuses with CHAOS were reviewed, and the findings correlated with outside and same-day fetal US and postnatal imaging findings. Fetal lung volumes were measured on MRI scans. Large lung volumes were found in 90% of the fetuses. Increased lung signal intensity, inverted diaphragm, and a dilated, fluid-filled lower airway were identified in all. The obstruction level was identified in 90%. MRI changed screening US diagnosis in 70%, but was concordant with the tertiary care US imaging in 90%. Seven fetuses were terminated or died in utero, and three fetuses survived after ex utero intrapartum tracheostomy placement. Autopsy or bronchoscopy performed in 60% confirmed CHAOS. Postnatal chest radiographs and CT showed hyperinflation, while US and fluoroscopy showed diminished diaphragmatic motion. MRI demonstrates large lung volumes, increased lung signal intensity, inverted diaphragm, and dilated fluid-filled lower airway, and usually identifies the obstruction level. The degree of correlation between MRI and tertiary prenatal US is high, but CHAOS is frequently misdiagnosed on screening US. Correct diagnosis may enable planned airway management. Voluminous lungs and diaphragmatic abnormalities persist on postnatal imaging. (orig.)

  13. Congenital pyriform aperture stenosis

    International Nuclear Information System (INIS)

    Osovsky, Micky; Aizer-Danon, Anat; Horev, Gadi; Sirota, Lea

    2007-01-01

    Nasal airway obstruction is a potentially life-threatening condition in the newborn. Neonates are obligatory nasal breathers. The pyriform aperture is the narrowest, most anterior bony portion of the nasal airway, and a decrease in its cross-sectional area will significantly increase nasal airway resistance. Congenital nasal pyriform aperture stenosis (CNPAS) is a rare, unusual form of nasal obstruction. It should be considered in the differential diagnosis of any neonate or infant with signs and symptoms of upper airway compromise. It is important to differentiate this level of obstruction from the more common posterior choanal stenosis or atresia. CNPAS presents with symptoms of nasal airway obstruction, which are often characterized by episodic apnea and cyclical cyanosis. (orig.)

  14. Characterizing congenital amusia.

    Science.gov (United States)

    Stewart, Lauren

    2011-04-01

    The ability to make sense of the music in our environment involves sophisticated cognitive mechanisms that, for most people, are acquired effortlessly and in early life. A special population of individuals, with a disorder termed congenital amusia, report lifelong difficulties in this regard. Exploring the nature of this developmental disorder provides a window onto the cognitive architecture of typical musical processing, as well as allowing a study of the relationship between processing of music and other domains, such as language. The present article considers findings concerning pitch discrimination, pitch memory, contour processing, experiential aspects of music listening in amusia, and emerging evidence concerning the neurobiology of the disorder. A simplified model of melodic processing is outlined, and possible loci of the cognitive deficit are discussed.

  15. Neurobiology of Congenital Amusia.

    Science.gov (United States)

    Peretz, Isabelle

    2016-11-01

    The past decade of research has provided compelling evidence that musical engagement is a fundamental human trait, and its biological basis is increasingly scrutinized. In this endeavor, the detailed study of individuals who have musical deficiencies is instructive because of likely neurogenetic underpinnings. Such individuals have 'congenital amusia', an umbrella term for lifelong musical disabilities that cannot be attributed to intellectual disability, lack of exposure, or brain damage after birth. Key points are reviewed here that have emerged during recent years regarding the neurobiology of the disorder, focusing on the importance of recurrent processing between the right inferior frontal cortex and the auditory cortex for conscious monitoring of musical pitch, and how this relates to developmental cognitive disorders in general. Copyright © 2016 Elsevier Ltd. All rights reserved.

  16. Congenital sensorineural hearing loss

    International Nuclear Information System (INIS)

    Mafee, M.F.; Selis, J.E.; Yannias, D.A.; Valvassori, G.E.; Pruzansky, S.; Applebaum, E.L.; Capek, V.

    1984-01-01

    The ears of 47 selected patients with congenital sensorineural hearing loss were examined with complex-motion tomography. The patients were divided into 3 general categories: those with a recognized syndrome, those with sensorineural hearing loss unrelated to any known syndrome, and those with microtia. A great variety of inner ear anomalies was detected, but rarely were these characteristic of a particular clinical entity. The most common finding was the Mondini malformation or one of its variants. Isolated dysplasia of the internal auditory canal or the vestibular aqueduct may be responsible for sensorineural hearing loss in some patients. Patients with microtia may also have severe inner ear abnormalities despite the fact that the outer and inner ears develop embryologically from completely separate systems

  17. Congenital sensorineural hearing loss

    Energy Technology Data Exchange (ETDEWEB)

    Mafee, M.F.; Selis, J.E.; Yannias, D.A.; Valvassori, G.E.; Pruzansky, S.; Applebaum, E.L.; Capek, V.

    1984-02-01

    The ears of 47 selected patients with congenital sensorineural hearing loss were examined with complex-motion tomography. The patients were divided into 3 general categories: those with a recognized syndrome, those with sensorineural hearing loss unrelated to any known syndrome, and those with microtia. A great variety of inner ear anomalies was detected, but rarely were these characteristic of a particular clinical entity. The most common finding was the Mondini malformation or one of its variants. Isolated dysplasia of the internal auditory canal or the vestibular aqueduct may be responsible for sensorineural hearing loss in some patients. Patients with microtia may also have severe inner ear abnormalities despite the fact that the outer and inner ears develop embryologically from completely separate systems.

  18. 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......(-1) and 95.1 +/- 7.8 ml (100 ml)(-1) min(-1), respectively). Neither IMBF was different across hypoxia, normoxia and hyperoxia (53.6 +/- 8.5, 49.9 +/- 5.9 and 52.9 +/- 5.9 ml (100 ml)(-1) min(-1), respectively). We conclude that when respiratory muscle energy requirement is not different between...

  19. Peritoneopericardial diaphragmatic hernia: a retrospective study of 31 cats and eight dogs.

    Science.gov (United States)

    Banz, Angela C; Gottfried, Sharon D

    2010-01-01

    The records of 31 cats and eight dogs undergoing surgical correction of peritoneopericardial diaphragmatic hernia (PPDH) from 2000 through 2007 were reviewed. Weimaraners and long-haired cats of varying breeds, particularly Maine Coon cats, appear to be at higher risk of PPDH. Presenting complaints were most commonly related to the respiratory and gastrointestinal tracts in both dogs and cats, although respiratory signs were more prevalent in cats, and gastrointestinal signs were more common in dogs. The most common herniated organs were liver, gallbladder, and small intestine. Mortality associated with surgical repair of PPDH in cats and dogs was low in the first 2 weeks postoperatively, and prognosis for return to normal function was excellent. Peri-and postoperative complications were typically minor and self-limiting.

  20. Ultrasound assessment of diaphragmatic function in patients with amyotrophic lateral sclerosis.

    Science.gov (United States)

    Fantini, Riccardo; Mandrioli, Jessica; Zona, Stefano; Antenora, Federico; Iattoni, Andrea; Monelli, Marco; Fini, Nicola; Tonelli, Roberto; Clini, Enrico; Marchioni, Alessandro

    2016-07-01

    Evaluation of diaphragm function in Amyotrophic Lateral Sclerosis (ALS) is critical in determining when to commence non-invasive mechanical ventilation (NIV). Currently, forced vital capacity (FVC) and sniff nasal inspiratory pressure (SNIP) are volitional measures for this evaluation, but require collaboration and are poorly specific. The primary aim of this study was to assess whether diaphragmatic thickness measured by ultrasound (US) correlates with lung function impairment in ALS patients. The secondary aim was then to compare US diaphragm thickness index (ΔTdi) with a new parameter (ΔTmax index). 41 patients with ALS and 30 healthy subjects were enrolled in the study. All subjects underwent spirometry, SNIP and diaphragm US evaluation, while arterial blood gases were measured in some patients only. US assessed diaphragm thickness (Tdi) at tidal volume (Vt) or total lung capacity (TLC), and their ratio (ΔTmax) were recorded. Changes (Δ) in Tdi indices during tidal volume (ΔTdiVt) and maximal inspiration (ΔTdiTLC) were also assessed. ΔTdiTLC (p <0.001) and ΔTmax (p = 0.007), but not ΔTdiVt, differed between patients and controls. Significant correlation (p < 0.05) was found between ΔTdiTLC, ΔTmax and FVC. The ROC curve analysis for comparison of individual testing showed better accuracy with Δtmax than with ΔtdiTLC for FVC (AUC 0.76 and 0.27) and SNIP (AUC 0.71 and 0.25). Diaphragm thickness assessed by ultrasound significantly correlates with global respiratory alterations in patients with ALS. ΔTmax represents a new US index of early diaphragmatic dysfunction, better related with the routinely performed lung function tests. © 2016 Asian Pacific Society of Respirology.