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https://www.readbyqxmd.com/read/29652577/lung-cancers-associated-with-cystic-airspaces-underrecognized-features-of-early-disease
#1
Sarah Sheard, Joanna Moser, Charlie Sayer, Konstantinos Stefanidis, Anand Devaraj, Ioannis Vlahos
Early lung cancers associated with cystic airspaces are increasingly being recognized as a cause of delayed diagnoses-owing to data gathered from screening trials and encounters in routine clinical practice as more patients undergo serial imaging. Several morphologic subtypes of cancers associated with cystic airspaces exist and can exhibit variable patterns of progression as the solid elements of the tumor grow. Current understanding of the pathogenesis of these malignancies is limited, and the numbers of cases reported in the literature are small...
April 13, 2018: Radiographics: a Review Publication of the Radiological Society of North America, Inc
https://www.readbyqxmd.com/read/29621304/trends-in-congenital-anomalies-in-europe-from-1980-to-2012
#2
Joan K Morris, Anna L Springett, Ruth Greenlees, Maria Loane, Marie-Claude Addor, Larraitz Arriola, Ingeborg Barisic, Jorieke E H Bergman, Melinda Csaky-Szunyogh, Carlos Dias, Elizabeth S Draper, Ester Garne, Miriam Gatt, Babak Khoshnood, Kari Klungsoyr, Catherine Lynch, Robert McDonnell, Vera Nelen, Amanda J Neville, Mary O'Mahony, Anna Pierini, Annette Queisser-Luft, Hanitra Randrianaivo, Judith Rankin, Anke Rissmann, Jennifer Kurinczuk, David Tucker, Christine Verellen-Dumoulin, Diana Wellesley, Helen Dolk
BACKGROUND: Surveillance of congenital anomalies is important to identify potential teratogens. METHODS: This study analysed the prevalence of 61 congenital anomaly subgroups (excluding chromosomal) in 25 population-based EUROCAT registries (1980-2012). Live births, fetal deaths and terminations of pregnancy for fetal anomaly were analysed with multilevel random-effects Poisson regression models. RESULTS: Seventeen anomaly subgroups had statistically significant trends from 2003-2012; 12 increasing and 5 decreasing...
2018: PloS One
https://www.readbyqxmd.com/read/29605210/a-review-of-the-etiology-and-clinical-presentation-of-non-cystic-fibrosis-bronchiectasis-a-tertiary-care-experience
#3
Ozlem Satırer, Ayse Mete Yesil, Nagehan Emiralioglu, Gökcen Dilsa Tugcu, Ebru Yalcın, Deniz Dogru, Nural Kiper, Ugur Ozcelik
INTRODUCTION: Non-cystic fibrosis(CF) bronchiectasis has been recognized in children for the past 200 years. Early childhood pneumonia and underlying conditions such as immunodeficiency, primary ciliary dyskinesia(PCD), and congenital lung pathology should be considered in the etiology. The aim of our study was to describe the clinical characteristics, laboratory, and radiological findings of a large population of patients with non-CF bronchiectasis at a tertiary center. METHODS: We analyzed the clinical findings of 187 patients diagnosed with non-CF bronchiectasis over a period of 10 years (January 2005-December 2015) at the Hacettepe University Faculty of Medicine Department of Pediatric Pulmonology...
April 2018: Respiratory Medicine
https://www.readbyqxmd.com/read/29557581/unilateral-pulmonary-hypoplasia-in-an-adult-patient
#4
Dimitrios Papadopoulos, Panagiotis Misthos, Maria Chorti, Vlasios Skopas, Alexandra Nakou, Napoleon Karagianidis, Achilleas Lioulias, Vasiliki Filaditaki
Pulmonary hypoplasia (PH) is a developmental anomaly of the lung parenchyma, characterized by a decrease in the number and size of airways, alveoli and vessels. We present a case of a 31-year-old patient with a history of chronic productive cough and frequent respiratory infections, who was referred for investigation of abnormal chest x-ray. The combination of chest computed tomography (CT) and bronchoscopy set the diagnosis of left pulmonary hypoplasia and the patient was treated surgically with a left pneumonectomy...
January 29, 2018: Monaldi Archives for Chest Disease, Archivio Monaldi Per le Malattie del Torace
https://www.readbyqxmd.com/read/29556698/-specific-characteristics-of-chest-x%C3%A2-ray-in-childhood-basics-for-radiologists
#5
K Schneider
The radiographic technique of pediatric chest X‑rays is substantially different from that in adults. In nearly all cases ap/pa X‑rays are sufficient and lateral radiographs are rarely needed. In the first years of life the thymus may overshadow the heart, the great vessels and the lung hila. The most important anatomical structures essential for diagnosing pathological findings of the lungs and mediastinum are the trachea with the bifurcation and the main bronchi with the adjacent great vessels. For the assessment of distended lungs and intrathoracic consolidations, fundamental knowledge of the anatomy in childhood and malformations which can involve the airways, the lungs, the heart, as well as systemic and pulmonary vessels are indispensable...
March 19, 2018: Der Radiologe
https://www.readbyqxmd.com/read/29540993/the-egfr-adam17-axis-in-chronic-obstructive-pulmonary-disease-and-cystic-fibrosis-lung-pathology
#6
REVIEW
Marta Stolarczyk, Bob J Scholte
Chronic obstructive pulmonary disease (COPD) and cystic fibrosis (CF) share molecular mechanisms that cause the pathological symptoms they have in common. Here, we review evidence suggesting that hyperactivity of the EGFR/ADAM17 axis plays a role in the development of chronic lung disease in both CF and COPD. The ubiquitous transmembrane protease A disintegrin and metalloprotease 17 (ADAM17) forms a functional unit with the EGF receptor (EGFR), in a feedback loop interaction labeled the ADAM17/EGFR axis. In airway epithelial cells, ADAM17 sheds multiple soluble signaling proteins by proteolysis, including EGFR ligands such as amphiregulin (AREG), and proinflammatory mediators such as the interleukin 6 coreceptor (IL-6R)...
2018: Mediators of Inflammation
https://www.readbyqxmd.com/read/29531794/role-of-ct-angiography-in-bilateral-pulmonary-sequestration-a-case-report
#7
Rizwana Yasmin, Dorte R Stærk, Anna Kalhauge, Henrik J Hansen, Tina E Olsen, Lisa L Maroun
Bilateral pulmonary sequestration (PS) is a very rare congenital malformation. We describe a case of bilateral intralobar pulmonary sequestration (ILS) in a newborn. Both sequestrations received arterial supply from separate branches of the descending aorta and venous drainage was into ipsilateral inferior pulmonary veins. Prenatal ultrasonography showed cystic changes in the lungs. Computed tomography angiography (CTA) with supplemental two-dimensional (2D) and three-dimensional (3D) images was performed to clearly define the pathology and revealed bilateral intralobar pulmonary sequestration with aberrant blood supply...
March 2018: Acta Radiologica Open
https://www.readbyqxmd.com/read/29441110/case-of-mucinous-adenocarcinoma-of-the-lung-associated-with-congenital-pulmonary-airway-malformation-in-a-neonate
#8
Juneyoug Koh, Euiseok Jung, Se Jin Jang, Dong Kwan Kim, Byong Sop Lee, Ki-Soo Kim, Ellen Ai-Rhan Kim
Congenital pulmonary airway malformation (CPAM), previously known as congenital cystic adenomatoid malformation, is a rare developmental lung abnormality associated with rhabdomyosarcoma, pleuropulmonary blastoma, and mucinous adenocarcinoma of the lung. We report an unusual case of a 10-day-old male newborn with a left lower lobe pulmonary cyst who underwent lobectomy, which revealed type II CPAM complicated by multifocal mucinous adenocarcinoma. KRAS sequencing revealed a somatic mutation in Codon12 (GGT → GAT), suggesting the development of a mucinous adenocarcinoma in the background of mucinous metaplasia...
January 2018: Korean Journal of Pediatrics
https://www.readbyqxmd.com/read/29390425/a-blind-vascular-ring-in-association-with-congenital-cystic-adenomatoid-malformation-a-case-report
#9
Bo Xia, Chun Hong, Jing Tang, Cuifen Liu, Gang Yu
RATIONALE: The occurrence of congenital cystic adenomatoid malformation (CCAM) and vascular ring (VR) is extremely rare. PATIENT CONCERNS: We present a case of left CCAM with VR consisting of a left aortic arch and right descending aorta with left tracheal compression causing atelectasis. DIAGNOSES: A high-risk male neonate with the diagnosis of left CCAM was diagnosed at 20 weeks gestational age by antenatal ultrasound. Chest CT revealed multiple cysts in the left inferior lung...
December 2017: Medicine (Baltimore)
https://www.readbyqxmd.com/read/29390328/foregut-duplication-cyst-a-novel-computed-tomography-finding-mimicking-a-small-bowel-hernia-a-case-report
#10
Ji Eun Choi, Soyeoun Lim, Chang Ryul Park, Hee Jeong Cha, Woon-Jung Kwon
RATIONALE: A foregut duplication cyst (FDC) is an uncommon congenital disease. This report presents a case of mediastinal foregut duplication cyst that mimicked a diaphragmatic small bowel hernia. PATIENT CONCERN: A 27-month-old girl was first referred for a mediastinal lesion found incidentally on a chest radiograph. At that time, our impression was cystic lung lesion such as congenital pulmonary airway malformation or pulmonary sequestration. At the age 6 years, she presented with recurrent vomiting...
December 2017: Medicine (Baltimore)
https://www.readbyqxmd.com/read/29315962/multiple-dicer1-related-tumors-in-a-child-with-a-large-interstitial-14q32-deletion
#11
Leanne de Kock, Dominique Geoffrion, Barbara Rivera, Rabea Wagener, Nelly Sabbaghian, Susanne Bens, Benjamin Ellezam, Dorothée Bouron-Dal Soglio, Jessica Ordóñez, Stephanie Sacharow, Jose Fernando Polo Nieto, R Paul Guillerman, Gordan M Vujanic, John R Priest, Reiner Siebert, William D Foulkes
Germ-line interstitial deletions involving the 14q32 chromosomal region, resulting in 14q32 deletion syndrome, are rare. DICER1 is a recently described cancer-predisposition gene located at 14q32.13. We report the case of a male child with a ∼5.8 Mbp 14q32.13q32.2 germ-line deletion, which included the full DICER1 locus. We reviewed available clinical and pathological material, and conducted genetic analyses. In addition to having congenital dysmorphic features, the child developed multiple DICER1 syndrome-related tumors before age 5 y: a pediatric cystic nephroma (pCN), a ciliary body medulloepithelioma (CBME), and a small lung cyst (consistent with occult pleuropulmonary blastoma Type I/Ir cysts seen in DICER1 mutation carriers)...
May 2018: Genes, Chromosomes & Cancer
https://www.readbyqxmd.com/read/29290632/congenital-cystic-adenomatoid-malformation-diagnosed-during-first-trimester-ultrasound-scan
#12
Georges A Markou, Georgios Dafereras, Christophe Poncelet
BACKGROUND Congenital cystic adenomatoid malformation (CCAM) is mostly reported from the second trimester of pregnancy. We report a case of a microcystic type of CCAM that was suggested by routine ultrasound examination at a gestational age of 12 weeks. CASE REPORT First-trimester ultrasound screening revealed the presence of a hyperechoic image that occupied the whole of the right lung, without no other any associated complications. The cardiac and aorta deviations with diaphragmatic eversion associated with a poly-hydramnios had subsequently appeared...
January 1, 2018: American Journal of Case Reports
https://www.readbyqxmd.com/read/29284507/a-pediatric-disease-to-keep-in-mind-diagnostic-tools-and-management-of-bronchiectasis-in-pediatric-age
#13
REVIEW
Marcella Gallucci, Emanuela di Palmo, Luca Bertelli, Federica Camela, Giampaolo Ricci, Andrea Pession
Bronchiectasis in pediatric age is a heterogeneous disease associated with significant morbidity.The most common medical conditions leading to bronchial damage are previous pneumonia and recurrent lower airway infections followed by underlying diseases such as immune-deficiencies, congenital airway defects, recurrent aspirations and mucociliary clearance disorders.The most frequent symptom is chronic wet cough. The introduction of high-resolution computed tomography (HRCT) has improved the time of diagnosis allowing earlier treatment...
December 29, 2017: Italian Journal of Pediatrics
https://www.readbyqxmd.com/read/29233624/first-and-second-trimester-screening-for-fetal-structural-anomalies
#14
REVIEW
Lindsay Edwards, Lisa Hui
Fetal structural anomalies are found in up to 3% of all pregnancies and ultrasound-based screening has been an integral part of routine prenatal care for decades. The prenatal detection of fetal anomalies allows for optimal perinatal management, providing expectant parents with opportunities for additional imaging, genetic testing, and the provision of information regarding prognosis and management options. Approximately one-half of all major structural anomalies can now be detected in the first trimester, including acrania/anencephaly, abdominal wall defects, holoprosencephaly and cystic hygromata...
April 2018: Seminars in Fetal & Neonatal Medicine
https://www.readbyqxmd.com/read/29110827/long-term-outcomes-of-congenital-lung-malformations
#15
Nigel J Hall, Michael P Stanton
Congenital lung malformations comprise a group of anatomical abnormalities of the respiratory tree including congenital cystic malformations, bronchopulmonary sequestrations, bronchogenic cyst, bronchial atresia, and congenital lobar emphysema. These anomalies are detected with increasing frequency by pre-natal sonography, but may also present for the first time with symptoms in childhood or later life. When symptomatic, there is little controversy that resection is indicated, which is usually curative. When a lesion is asymptomatic there is greater debate regarding the benefit of resection versus continued observation...
October 2017: Seminars in Pediatric Surgery
https://www.readbyqxmd.com/read/29046943/congenital-pulmonary-airway-malformations-state-of-the-art-review-for-pediatrician-s-use
#16
REVIEW
Claire Leblanc, Marguerite Baron, Emilie Desselas, Minh Hanh Phan, Alexis Rybak, Guillaume Thouvenin, Clara Lauby, Sabine Irtan
Congenital pulmonary airway malformations or CPAM are rare developmental lung malformations, leading to cystic and/or adenomatous pulmonary areas. Nowadays, CPAM are diagnosed prenatally, improving the prenatal and immediate postnatal care and ultimately the knowledge on CPAM pathophysiology. CPAM natural evolution can lead to infections or malignancies, whose exact prevalence is still difficult to assess. The aim of this "state-of-the-art" review is to cover the recently published literature on CPAM management whether the pulmonary lesion was detected during pregnancy or after birth, the current indications of surgery or surveillance and finally its potential evolution to pleuro-pulmonary blastoma...
December 2017: European Journal of Pediatrics
https://www.readbyqxmd.com/read/29026365/incidental-finding-of-bronchopulmonary-sequestration-in-a-64-year-old-female
#17
Pichapong Tunsupon, Ayesha Arshad, Sumit Patel, M Jeffery Mador
BACKGROUND: Bronchopulmonary sequestration is a congenital abnormality of the primitive foregut. In adults, the typical age at presentation is 20-25 years. CASE REPORT: A 64-year-old female was referred for evaluation of an 8 × 6-cm right lower lobe cystic lesion. Her medical history was significant for recurrent right lower lobe pneumonia requiring multiple hospitalizations. Her physical examination was significant for crackles at the right lung base. Computed tomography (CT) of the chest with contrast showed cystic changes with thickened septation of the medial segment of the right lower lobe lacking distinct visceral pleura and with arterial supply from the anomalous branch of the thoracic aorta arising near the celiac trunk...
2017: Ochsner Journal
https://www.readbyqxmd.com/read/28891233/fetoscopic-tracheal-occlusion-for-treatment-of-non-isolated-congenital-diaphragmatic-hernia
#18
Viola Seravalli, Eric B Jelin, Jena L Miller, Aylin Tekes, Luca Vricella, Ahmet A Baschat
Fetoscopic endotracheal occlusion (FETO) is a prenatal treatment that may increase survival in severe congenital diaphragmatic hernia (CDH). In the USA, FETO is offered for isolated severe left-sided CDH in the context of an FDA-approved feasibility study. FETO in non-isolated cases of severe CDH is only performed with a compassionate use exemption from US regulatory bodies. Anomalies frequently associated with CDH include congenital cystic lesions of the lung and cardiac defects. We describe two cases of non-isolated severe left-sided CDH that underwent prenatal FETO, survived after birth and underwent postnatal surgical repair...
October 2017: Prenatal Diagnosis
https://www.readbyqxmd.com/read/28884206/neonatal-congenital-lung-tumors-the-importance-of-mid-second-trimester-ultrasound-as-a-diagnostic-clue
#19
Stephan L Waelti, Laurent Garel, Dorothée Dal Soglio, Françoise Rypens, Michael Messerli, Josée Dubois
BACKGROUND: The differential diagnosis for primary lung masses in neonates includes a variety of developmental abnormalities; it also consists of the much rarer congenital primary lung tumors: cystic pleuropulmonary blastoma (cystic PPB), fetal lung interstitial tumor (FLIT), congenital peribronchial myofibroblastic tumor (CPMT), and congenital fibrosarcoma. Radiologic differentiation between malformations and tumors is often very challenging. OBJECTIVE: The objective was to establish distinctive features between developmental pulmonary abnormalities and primary lung tumors...
December 2017: Pediatric Radiology
https://www.readbyqxmd.com/read/28814498/both-ways-at-once-keeping-small-airways-clean
#20
REVIEW
Paul M Quinton
The small airways of the lungs are under constant assault from the pathogens and debris in the air that they must conduct to alveoli. Although hygiene is of paramount importance for respiratory health, the underlying principles of airway clearance have not been well integrated or established. Newly emerging concepts of simultaneous absorption and secretion of airway surface liquid (ASL) and the role of [Formula: see text] in the maturation of mucins have advanced from experimental evidence as well as observations from the congenital disease cystic fibrosis (CF) to present a novel model that integrates microanatomy with organ physiology to meet the constant challenge of cleaning small airways...
September 2017: Physiology
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