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https://www.readbyqxmd.com/read/29679560/developmental-origin-and-morphogenesis-of-the-diaphragm-an-essential-mammalian-muscle
#1
Elizabeth M Sefton, Mirialys Gallardo, Gabrielle Kardon
The diaphragm is a mammalian skeletal muscle essential for respiration and for separating the thoracic and abdominal cavities. Development of the diaphragm requires the coordinated development of muscle, muscle connective tissue, tendon, nerves, and vasculature that derive from different embryonic sources. However, defects in diaphragm development are common and the cause of an often deadly birth defect, Congenital Diaphragmatic Hernia (CDH). Here we comprehensively describe the normal developmental origin and complex spatial-temporal relationship between the different developing tissues to form a functional diaphragm using a developmental series of mouse embryos genetically and immunofluorescently labeled and analyzed in whole mount...
April 18, 2018: Developmental Biology
https://www.readbyqxmd.com/read/29666468/a-novel-endogenous-damage-signal-glycyl-trna-synthetase-activates-multiple-beneficial-functions-of-mesenchymal-stem-cells
#2
Se-Ra Park, Hyun-Jin Kim, Se-Ran Yang, Chan Hum Park, Hwa-Yong Lee, In-Sun Hong
During tissue repair, the injury site releases various bioactive molecules as damage signals to actively recruit stem cells to the damaged region. Despite convincing evidence that mesenchymal stem cells (MSCs) can sense damage signals and promote repair processes, the identity of these signals and how these signals regulate stem cell-mediated tissue repair remain unknown. Glycyl tRNA synthetase (GRS) is a ubiquitously expressed enzyme that catalyzes the first step of protein synthesis in all organisms. In addition to this canonical function, we identified for the first time that GRS is released by damaged tissues or cells in response to various injury signals and may function as a damage signal that activates the proliferative, differentiation, and migratory potential of MSCs, possibly through its identified receptor, cadherin-6 (CDH-6)...
April 17, 2018: Cell Death and Differentiation
https://www.readbyqxmd.com/read/29663466/first-trimester-screening-for-major-cardiac-defects-based-on-the-ductus-venosus-flow-in-fetuses-with-trisomy-21
#3
Philipp Wagner, Jiri Sonek, Katrin Eberle, Harald Abele, Markus Hoopmann, Natalia Prodan, Karl Oliver Kagan
OBJECTIVE: To examine whether in fetuses with trisomy 21 (T21), the ductus venosus (DV) flow differs in presence of a major cardiac defect (CHD) and whether this affects the risk distribution in first trimester screening for T21. METHODS: Retrospective study involving pregnant women who underwent first trimester screening. This involves an examination of the CRL, the NT, the DV flow, and the heart. 3 groups of fetuses were examined: euploid without CHD, T21 with and without CHD...
April 16, 2018: Prenatal Diagnosis
https://www.readbyqxmd.com/read/29618029/the-role-of-frem2-and-fras1-in-the-development-of-congenital-diaphragmatic-hernia
#4
Valerie K Jordan, Tyler F Beck, Andres Hernandez-Garcia, Peter N Kundert, Bum-Jun Kim, Shalini N Jhangiani, Tomasz Gambin, Molly Starkovich, Jaya Punetha, Ingrid S Paine, Jennifer E Posey, Alexander H Li, Donna Muzny, Chih-Wei Hsu, Amber J Lashua, Xin Sun, Caraciolo J Fernandes, Mary E Dickinson, Kevin P Lally, Richard A Gibbs, Eric Boerwinkle, James R Lupski, Daryl A Scott
Congenital diaphragmatic hernia (CDH) has been reported twice in individuals with a clinical diagnosis of Fraser syndrome, a genetic disorder that can be caused by recessive mutations affecting FREM2 and FRAS1. In the extracellular matrix, FREM2 and FRAS1 form a self-stabilizing complex with FREM1, a protein whose deficiency causes sac CDH in humans and mice. By sequencing FREM2 and FRAS1 in a CDH cohort, and searching online databases, we identified five individuals who carried recessive or double heterozygous, putatively deleterious variants in these genes which may represent susceptibility alleles...
March 28, 2018: Human Molecular Genetics
https://www.readbyqxmd.com/read/29614512/dynamic-compression-promotes-the-matrix-synthesis-of-nucleus-pulposus-cells-through-up-regulating-n-cdh-expression-in-a-perfusion-bioreactor-culture
#5
Yichun Xu, Hui Yao, Pei Li, Wenbin Xu, Junbin Zhang, Lulu Lv, Haijun Teng, Zhiliang Guo, Huiqing Zhao, Gang Hou
BACKGROUND/AIMS: An adequate matrix production of nucleus pulposus (NP) cells is an important tissue engineering-based strategy to regenerate degenerative discs. Here, we mainly aimed to investigate the effects and mechanism of mechanical compression (i.e., static compression vs. dynamic compression) on the matrix synthesis of three-dimensional (3D) cultured NP cells in vitro. METHODS: Rat NP cells seeded on small intestinal submucosa (SIS) cryogel scaffolds were cultured in the chambers of a self-developed, mechanically active bioreactor for 10 days...
March 26, 2018: Cellular Physiology and Biochemistry
https://www.readbyqxmd.com/read/29608113/3d-virtual-broncoscopy-before-feto-procedure-in-a-fetus-with-severe-isolated-left-congenital-diaphragmatic-hernia
#6
Gabriele Tonni, Rodrigo Ruano, Renato Sà, Fernando Maia Peixoto Filho, Jorge Lopes, Heron Werner
INTRODUCTION: Congenital diaphragmatic hernia (CDH) is a life-threatening event in severe forms and fetuses affected may benefit from in utero treatment by fetoscopic endotracheal occlusion (FETO). MATERIALS AND METHODS: Application of 3D virtual bronchoscopy in a case of severe, isolated, left CDH before performing FETO procedure at 27 week's gestation is reported. RESULTS: The 3D virtual imaging of the fetal trachea was technically useful in planning the real FETO procedure...
April 2, 2018: Fetal and Pediatric Pathology
https://www.readbyqxmd.com/read/29605270/pumpless-arteriovenous-extracorporeal-membrane-oxygenation-a-novel-mode-of-respiratory-support-in-a-lamb-model-of-congenital-diaphragmatic-hernia
#7
Emily A Partridge, Marcus G Davey, Matthew Hornick, Kevin C Dysart, Aliza Olive, Robert Caskey, James T Connelly, Holly L Hedrick, William H Peranteau, Alan W Flake
BACKGROUND: Extracorporeal membrane oxygenation (ECMO) is commonly required in neonates with congenital diaphragmatic hernia (CDH) complicated by pulmonary hypertension (PH). ECMO carries significant risk, and is contraindicated in the setting of extreme prematurity or intracranial hemorrhage. Pumpless arteriovenous ECMO (P-ECMO) may represent an alternative for respiratory support. The present study summarizes our initial experience with P-ECMO in a lamb model of CDH. STUDY DESIGN: Surgical creation of CDH was performed at 65-75days' gestation...
March 9, 2018: Journal of Pediatric Surgery
https://www.readbyqxmd.com/read/29605264/congenital-diaphragmatic-hernia-is-associated-with-nonscrotal-testes
#8
Stan Janssen, Kim Heiwegen, Iris Alm van Rooij, Janielle van Alfen-van der Velden, Ivo de Blaauw, Sanne Mbi Botden
BACKGROUND: Congenital diaphragmatic hernia (CDH) is a rare birth defect with a high mortality and morbidity. Nonscrotal testes (NST) are the most reported genital anomaly in boys. Both defects have known associated anomalies, but little is known about the association between CDH and NST. This study evaluates this association and the location of the NST in a large cohort of male CDH survivors. Moreover, we analyzed possible associative factors for NST in CDH patients. METHODS: A cohort of CDH patients, born between January 2000 and March 2014 and treated in a high volume expertise center, was evaluated retrospectively...
March 8, 2018: Journal of Pediatric Surgery
https://www.readbyqxmd.com/read/29582948/-advances-in-fetal-therapy-in-complicated-monochorionic-pregnancies-and-in-severe-congenital-diaphragmatic-hernia-five-years-experience
#9
Yuval Gielchinsky, Dan V Valsky, Nili Yanai, Firas J Abdeljawad, Mazen A Muhaisen, Dan Arbell, Yehuda Ginosar, Orna Ben-Yosef, Orite Winograd, Benjamin Bar-Oz, Simcha Yagel, Smadar Eventov-Friedman
INTRODUCTION: : Minimally invasive fetal therapeutic procedures reduce the morbidity and mortality in monochorionic (MC) twins and in fetuses with congenital diaphragmatic hernia (CDH). MC pregnancies share their blood systems due to communicating vessels over their single placenta and may develop specific complications: Twin-to-Twin transfusion syndrome (TTTS), Selective intrauterine growth restriction (sIUGR), Twin Anemia-Polycythemia Sequence (TAPS), Twin Reverse Arterial Perfusion Syndrome (TRAP) or anomalies in one...
March 2018: Harefuah
https://www.readbyqxmd.com/read/29580786/neurodevelopmental-outcomes-in-cdh-survivors-a-single-institution-s-experience
#10
Joseph T Church, Rodrigo Mon, Tiffany Wright, Megan A Coughlin, Maria Ladino-Torres, Christopher Tapley, Heather Bowen, Niki Matusko, George B Mychaliska
PURPOSE: Survivors of congenital diaphragmatic hernia (CDH) face high morbidity. We studied the neurodevelopmental outcomes of CDH survivors at a single institution. METHODS: CDH survivors born July 2006-March 2016 at a free-standing children's hospital were reviewed. Neurodevelopment was assessed using the Peabody Developmental Motor Scales (PDMS-2) broken into gross, fine, and total motor quotients. Data collected included prenatal variables (liver herniation, defect laterality, observed:expected total fetal lung volume (o:eTFLV) on MRI), birth demographics (sex, race, estimated gestational age (EGA), birth weight (BtWt), 5 min APGAR, associated anomalies), and therapies/hospital course (HFOV/HFJV, ECMO, timing of repair, pulmonary hypertension (PHTN) severity, length of stay, ventilator days)...
March 5, 2018: Journal of Pediatric Surgery
https://www.readbyqxmd.com/read/29577002/use-of-nonabsorbable-spiral-tacks-for-mesh-reinforcement-in-thoracoscopic-repair-of-congenital-diaphragmatic-hernia
#11
Anna Poupalou, Celine Vrancken, Erwin Vanderveken, Henri Steyaert
Thoracoscopic prosthetic repair of congenital diaphragmatic hernia (CDH) is a well-established and safe technique in experienced hands but the patching procedure is technically demanding and time consuming. To address the challenges associated with this process (confined working space and restricted time), the aim of this article is to assess the potential improvements in feasibility, efficacy, and safety of patch fixation by using nonabsorbable helicoidal tacks in neonates and infants for the repair of large CDH by thoracoscopy...
January 2018: European Journal of Pediatric Surgery Reports
https://www.readbyqxmd.com/read/29572873/characterizing-cardiac-dysfunction-in-fetuses-with-left-congenital-diaphragmatic-hernia
#12
Mónica Cruz-Lemini, Brenda Valenzuela-Alcaraz, Julio Granados-Montiel, Josep M Martínez, Fátima Crispi, Eduard Gratacós, Rogelio Cruz-Martínez
OBJECTIVE: To evaluate cardiac function by conventional echocardiography and tissue Doppler imaging (TDI) in fetuses with left congenital diaphragmatic hernia (CDH). METHODS: Conventional echocardiography (myocardial performance index (MPI), ventricular filling velocities and E/A ratios) and TDI (annular myocardial peak velocities, E/E' and E'/A' ratios) in mitral, septal and tricuspid annulus were evaluated in a cohort of 31 left-sided CDH fetuses and compared with 75 controls matched for gestational age 2:1...
March 23, 2018: Prenatal Diagnosis
https://www.readbyqxmd.com/read/29570242/germline-but-not-somatic-de-novo-mutations-are-common-in-human-congenital-diaphragmatic-hernia
#13
Nori Matsunami, Hari Shanmugam, Lisa Baird, Jeff Stevens, Janice L Byrne, Douglas C Barnhart, Carrie Rau, Marcia L Feldkamp, Bradley A Yoder, Mark F Leppert, H Joseph Yost, Luca Brunelli
OBJECTIVES: Congenital diaphragmatic hernia (CDH) is a developmental defect of the diaphragm that causes high newborn morbidity and mortality. CDH is considered to be a multifactorial disease, with strong evidence implicating genetic factors. Although recent studies suggest the biological role of deleterious germline de novo variants, the effect of gene variants specific to the diaphragm remains unclear, and few single genes have been definitively implicated in human disease. METHODS: We performed genome sequencing on 16 individuals with CDH and their unaffected parents, including 10 diaphragmatic samples...
March 23, 2018: Birth Defects Research
https://www.readbyqxmd.com/read/29552525/pediatric-thoracoscopic-repair-of-congenital-diaphragmatic-hernias
#14
Anne Schneider, François Becmeur
Congenital diaphragmatic hernia (CDH) is a rare congenital disease requiring neonatal surgical treatment. The traditional surgical management of CDH consists of diaphragmatic repair by laparotomy. Thoracoscopic repair techniques have been well described for CDH with late presentation. Nevertheless, its feasibility for CDH treatment in neonates emerged only the past few years because the use of thoracoscopy with carbon dioxide insufflation remains controversial in these patients more vulnerable to hypothermia and acidosis...
2018: Journal of Visualized Surgery
https://www.readbyqxmd.com/read/29549119/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
#15
Nathaly M Sweeney, Shareef A Nahas, Shimul Chowdhury, Miguel Del Campo, Marilyn C Jones, David P Dimmock, Stephen F Kingsmore, Rcigm Investigators
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...
March 16, 2018: Cold Spring Harbor Molecular Case Studies
https://www.readbyqxmd.com/read/29541886/the-value-of-short-term-pain-relief-in-predicting-the-long-term-outcome-of-indirect-cervical-epidural-steroid-injections
#16
Holger Joswig, Armin Neff, Christina Ruppert, Gerhard Hildebrandt, Martin Nikolaus Stienen
BACKGROUND: The predictive value of short-term arm pain relief after 'indirect' cervical epidural steroid injection (ESI) for the 1-month treatment response has been previously demonstrated. It remained to be answered whether the long-term response could be estimated by the early post-interventional pain course as well. METHODS: Prospective observational study, following a cohort of n = 45 patients for a period of 24 months after 'indirect' ESI for radiculopathy secondary to a single-level cervical disk herniation (CDH)...
March 14, 2018: Acta Neurochirurgica
https://www.readbyqxmd.com/read/29540674/circhectd1-promotes-the-silica-induced-pulmonary-endothelial-mesenchymal-transition-via-hectd1
#17
Shencun Fang, Huifang Guo, Yusi Cheng, Zewei Zhou, Wei Zhang, Bing Han, Wei Luo, Jing Wang, Weiping Xie, Jie Chao
Excessive proliferation and migration of fibroblasts contribute to pulmonary fibrosis in silicosis, and both epithelial cells and endothelial cells participate in the accumulation of fibroblasts via the epithelial-mesenchymal transition (EMT) and the endothelial-mesenchymal transition (EndMT), respectively. A mouse endothelial cell line (MML1) was exposed to silicon dioxide (SiO2 , 50 μg/cm2 ), and immunofluorescence and western blot analyses were performed to evaluate levels of specific endothelial and mesenchymal markers and to elucidate the mechanisms by which SiO2 induces the EndMT...
March 14, 2018: Cell Death & Disease
https://www.readbyqxmd.com/read/29540236/health-related-quality-of-life-in-children-and-adolescents-with-congenital-diaphragmatic-hernia-a-cross-sectional-study
#18
Katarina Bojanić, Ruža Grizelj, Jurica Vuković, Lana Omerza, Marina Grubić, Tomislav Ćaleta, Toby N Weingarten, Darrell R Schroeder, Juraj Sprung
BACKGROUND: Patients with congenital diaphragmatic hernia (CDH) have a high residual morbidity rate. We compared self-reported health-related quality of life (HRQoL) between patients with CDH and healthy children. METHODS: Forty-five patients with CDH who were born from January 1, 1990, through February 15, 2015, were matched to healthy, age-matched control participants at a 1:2 ratio. The health records of the study participants were reviewed to determine comorbid conditions, and HRQoL was assessed by both the participants and their parents with the Pediatric Quality of Life Inventory (PedsQL)...
March 14, 2018: Health and Quality of Life Outcomes
https://www.readbyqxmd.com/read/29523920/diminished-cardiac-performance-and-left-ventricular-dimensions-in-neonates-with-congenital-diaphragmatic-hernia
#19
Gabriel Altit, Shazia Bhombal, Krisa Van Meurs, Theresa A Tacy
INTRODUCTION: Newborns with congenital diaphragmatic hernia (CDH) have varying degrees of pulmonary hypoplasia and pulmonary hypertension (PH), and there is limited evidence that cardiac dysfunction is present. We sought to study early neonatal biventricular function and performance in these patients by reviewing early post-natal echocardiography (ECHO) measurements and comparing them to normal term newborns. METHODS: Retrospective case-control study reviewing clinical and ECHO data on term newborns with CDH and normal controls born between 2009 and 2016...
March 9, 2018: Pediatric Cardiology
https://www.readbyqxmd.com/read/29508361/surgical-chylothorax-in-neonates-management-and-outcomes
#20
Karina Miura Costa, Amulya Kumar Saxena
BACKGROUND: Postoperative chylothorax occurs due to trauma to lymphatic vessels and can occur after any thoracic procedure. This study reviewed recent literature to evaluate the management and outcomes of surgical chylothorax in neonates. METHODS: PubMed database was searched for articles in English, Portuguese and Spanish from 2000 to 2016. Data were collected for surgery, chylothorax management, complications, mortality and length of hospital stay (LOS). RESULTS: Twenty studies offered 107 neonates: congenital diaphragmatic hernia (CDH) (n = 76, 71%), cardiac malformations (n = 25, 23...
March 5, 2018: World Journal of Pediatrics: WJP
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