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https://www.readbyqxmd.com/read/29469200/mutiple-dicer1-related-lesions-associated-with-a-germline-deep-intronic-mutation
#1
Florian Verrier, Catherine Dubois d'Enghien, Marion Gauthier-Villars, Valérie Bonadona, Cécile Faure-Conter, Frédérique Dijoud, Dominique Stoppa-Lyonnet, Claude Houdayer, Lisa Golmard
Germline DICER1 pathogenic variants predispose to numerous benign and malignant tumors. In this report, we describe DICER1 gene analysis in an adolescent diagnosed with multinodular goiter, ovarian Sertoli-Leydig cell tumor, and lung cyst. DICER1 mutational screening at the DNA level failed to detect any pathogenic variant. Subsequent messenger RNA (mRNA) analysis revealed a 132 nucleotide intronic sequence exonization. This truncating event was caused by a deep intronic mutation generating a de novo acceptor splice site...
February 22, 2018: Pediatric Blood & Cancer
https://www.readbyqxmd.com/read/29464089/cysts-mark-the-early-stage-of-metastatic-tumor-development-in-non-small-cell-lung-cancer
#2
Chitra Thakur, Ulf R Rapp, Thomas Rudel
Identifying metastatic tumor growth at an early stage has been one of the biggest challenges in the treatment of lung cancer. By genetic lineage tracing approach in a conditional model of Non-Small Cell Lung Cancer (NSCLC) in mice, we demonstrate that cystic lesions represent an early stage of metastatic invasion. We generated a mouse model for NSCLC which incorporated a heritable DsRed fluorescent tag driven by the ubiquitous CAG promoter in the alveolar type II cells of the lung. We found early cystic lesions in a secondary organ (liver) that lacked the expression of bona fide lung makers namely Scgb1a1 and surfactant protein C Sftpc and were DsRed positive hence identifying lung as their source of origin...
January 19, 2018: Oncotarget
https://www.readbyqxmd.com/read/29453607/semaphorin-7a-in-circulating-regulatory-t-cells-is-increased-in-autosomal-dominant-polycystic-kidney-disease-and-decreases-with-tolvaptan-treatment
#3
Yashang Lee, Katrina Lehmann Blount, Feng Dai, Siobhan Thompson, Jonathan Kaufman Scher, Sherrie Bitterman, Madeline Droher, Erica L Herzog, Gilbert Moeckel, Anil Karihaloo, Neera K Dahl
BACKGROUND: Semaphorin 7A (SEMA7A) is an immunomodulating protein implicated in lung and liver fibrosis. In autosomal-dominant polycystic kidney disease (ADPKD), the progressive expansion of renal cysts, inflammation, and subsequent renal fibrosis leads to end-stage renal disease (ESRD). SEMA7A may play a role in renal fibrosis and in ADPKD. METHODS: We evaluated Sema7a in a mouse model of renal fibrosis and determined the expression of SEMA7A in human ADPKD kidney...
February 16, 2018: Clinical and Experimental Nephrology
https://www.readbyqxmd.com/read/29444170/genotypic-and-phenotypic-characterization-of-the-sdccag8tn-sb-tyr-2161b-ca1c2ove-mouse-model
#4
Katie Weihbrecht, Wesley A Goar, Calvin S Carter, Val C Sheffield, Seongjin Seo
Nephronophthisis-related ciliopathies (NPHP-RC) are a group of disorders that present with end-stage renal failure in childhood/adolescence, kidney cysts, retinal degeneration, and cerebellar hypoplasia. One disorder that shares clinical features with NPHP-RC is Bardet-Biedl Syndrome (BBS). Serologically defined colon cancer antigen 8 (SDCCAG8; also known as NPHP10 and BBS16) is an NPHP gene that is also associated with BBS. To better understand the patho-mechanisms of NPHP and BBS caused by loss of SDCCAG8 function, we characterized an SDCCAG8 mouse model (Sdccag8Tn(sb-Tyr)2161B...
2018: PloS One
https://www.readbyqxmd.com/read/29441110/case-of-mucinous-adenocarcinoma-of-the-lung-associated-with-congenital-pulmonary-airway-malformation-in-a-neonate
#5
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/29434948/granulocyte-colony-stimulating-factor-producing-mucinous-cystic-neoplasm-with-an-associated-invasive-carcinoma-of-the-pancreas
#6
Kazuhide Shimamatsu, Yoshiki Naito, Yutaro Mihara, Masamichi Nakayama, Masahiko Tanigawa, Yushi Abe, Ken Nakamura, Toshihiro Araki, Kenji Sakata, Kazunori Noguchi, Jun Akiba, Hirohisa Yano, Osamu Nakashima
The present case study documents an autopsy case of granulocyte-colony stimulating factor (G-CSF)-producing mucinous cystic neoplasm (MCN), with an associated invasive carcinoma of the pancreas. A 65-year-old woman presented to Omuta City Hospital (Omuta Japan) with a primary complaint of abdominal pain. Multiple liver nodules and a pancreatic cyst were detected upon abdominal computed tomography. Initially, liver abscess was suspected as the patient exhibited leukocytosis and elevated C-reactive protein level...
February 2018: Oncology Letters
https://www.readbyqxmd.com/read/29424198/aneurysmal-rib-cyst
#7
Sotirios Moraitis, Dimitrios Moraitis, Maria Chounti, Panagiotis Hountis
Thoracic cage is the site of development of various primary or metastatic tumors. An aneurysmal rib cyst is a benign tumor arising from the chest wall. Aneurysmal rib cyst is considered a rare surgical entity and its presence must be followed by removal for histology examination. We present here the case of an aneurysmal rib cyst to a young 33-year-old female. The tumor was presented as an expanding left anterior second rib mass during a self-breast examination. Chest x-ray showed a shadow on the left upper lung area and CT scan revealed a large multicystic mass in the anterolateral left 2nd rib protruding underneath the thoracic major muscle...
September 22, 2017: Monaldi Archives for Chest Disease, Archivio Monaldi Per le Malattie del Torace
https://www.readbyqxmd.com/read/29419953/-the-role-of-fetal-magnetic-resonance-imaging-in-the-study-of-congenital-diaphragmatic-hernia
#8
V Núñez, M Romo, J L Encinas, A Bueno, B Herrero, E Antolín, L Martínez, M López Santamaría
INTRODUCTION AND OBJECTIVES: Different echographic and fetal magnetic resonance (MRI) measurements have been described in the diagnosis of associated malformations and the prognosis of congenital diaphragmatic hernia (CDH). We have reviewed our experience searching for useful isolated or combined parameters and how MRI can complement ultrasound. MATERIAL AND METHODS: We evaluated 29 fetuses with CDH. We examined ultrasonography: Lung to Head (LHR o/e) and in MRI: ipsilateral lung volume (IPV) and total expressed as percentage of observed / expected lung volume (VPT o/e) and percentage of herniated liver (PHH)...
February 1, 2018: Cirugía Pediátrica: Organo Oficial de la Sociedad Española de Cirugía Pediátrica
https://www.readbyqxmd.com/read/29404167/organizing-pneumonia-as-a-histopathological-term
#9
Fatma Tokgöz Akyıl, Meltem Ağca, Aysun Mısırlıoğlu, Ayşe Alp Arsev, Mustafa Akyıl, Tülin Sevim
OBJECTIVES: Organizing pneumonia (OP) is an interstitial lung disease characterized by granulation tissue buds in alveoli and alveolar ductus, possibly accompanied by bronchiolar involvement. Histopathologically, OP may signify a primary disease and be observed as a contiguous disease or as a minor component of other diseases. In this study, the clinical significance of histopathological OP lesions and clinical and radiological features of patients with primary OP were examined. MATERIAL AND METHODS: Between January 2011 and January 2015, of 6,346 lung pathology reports, 138 patients with OP lesions were retrospectively evaluated...
July 2017: Turkish Thoracic Journal
https://www.readbyqxmd.com/read/29390425/a-blind-vascular-ring-in-association-with-congenital-cystic-adenomatoid-malformation-a-case-report
#10
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
#11
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/29367500/mucoepidermoid-carcinoma-of-arising-from-a-bronchogenic-cyst-of-the-diaphragm
#12
Naohiro Taira, Hidenori Kawasaki, Eriko Atsumi, Takaharu Ichi, Tsutomu Kawabata, Masanao Saio, Naoki Yoshimi
INTRODUCTION: Bronchogenic cysts may rupture or become infected, and malignant degeneration may occur. Although various types of malignant degeneration have been described, only a few reports of mucoepidermoid carcinoma arising from a bronchogenic cyst have been published. We report such a case. CASE: A 77-year-old female was referred to our institution for evaluation of left chest pain. A computed tomography scan showed an enhancing 65 × 70 mm mass of the left diaphragm...
January 23, 2018: Annals of Thoracic and Cardiovascular Surgery
https://www.readbyqxmd.com/read/29355285/subpleural-lung-cysts-in-children-with-trisomy-21
#13
Michael Tc Lim, Jeevesh Kapur, Bharath Kr Reddy, Srikanta T Jingade, Daniel Yt Goh, Mahesh B Ramamurthy
No abstract text is available yet for this article.
December 2017: Annals of the Academy of Medicine, Singapore
https://www.readbyqxmd.com/read/29353554/knowledge-attitudes-and-practices-related-to-cystic-echinococcosis-endemicity-in-pakistan
#14
Aisha Khan, Kashf Naz, Haroon Ahmed, Sami Simsek, Muhammad Sohail Afzal, Waseem Haider, Sheikh Saeed Ahmad, Sumaira Farrakh, Wu Weiping, Guan Yayi
BACKGROUND: Cystic echinococcosis (CE) is a human and animal health problem in many endemic areas worldwide. It is considered a neglected zoonotic disease caused by the larval form (hydatid cyst) of Echinococcus spp. tapeworm. There are limited studies on echinococcosis in Pakistan. METHODS: A cross-sectional survey was conducted to find out recent knowledge, attitudes and practices on the occurrence of cystic echinococcosis in butchers and dog owners in both urban and rural areas of Rawalpindi/Islamabad regions, Pakistan...
January 22, 2018: Infectious Diseases of Poverty
https://www.readbyqxmd.com/read/29343557/dicer1-and-associated-conditions-%C3%A2-identification-of-at-risk-individuals-and-recommended-surveillance-strategies
#15
Kris Ann P Schultz, Gretchen M Williams, Junne Kamihara, Douglas R Stewart, Anne K Harris, Andrew J Bauer, Joyce Turner, Rachana Shah, Katherine Schneider, Kami Wolfe Schneider, Ann Garrity Carr, Laura A Harney, Shari Baldinger, A Lindsay Frazier, Daniel Orbach, Dominik T Schneider, David Malkin, Louis P Dehner, Yoav H Messinger, Ashley Hill
Pathogenic germline DICER1 variants cause a hereditary cancer predisposition syndrome with a variety of manifestations. In addition to conferring increased cancer risks for pleuropulmonary blastoma (PPB) and ovarian sex cord-stromal tumors, particularly Sertoli-Leydig cell tumor, individuals with pathogenic germline DICER1 variants may also develop lung cysts, cystic nephroma, renal sarcoma and Wilms tumor, nodular hyperplasia of the thyroid, nasal chondromesenchymal hamartoma, ciliary body medulloepithelioma, genitourinary embryonal rhabdomyosarcoma and brain tumors including pineoblastoma and pituitary blastoma...
January 17, 2018: Clinical Cancer Research: An Official Journal of the American Association for Cancer Research
https://www.readbyqxmd.com/read/29332106/single-center-experience-in-the-surgical-treatment-of-combined-lung-echinococcosis
#16
Shirtaev Bakhytzhan, Sundetov Mukhtar, Kassenbayev Ruslan, Voronin Denis, Ismailova Gulziya
OBJECTIVES: To compare results of surgical treatment and complications of patients with unilateral or bilateral thoracic and combined pulmonary echinococcosis. METHODS: This cross-sectional analysis of a prospective study was conducted in the Department of Thoracic and Pediatric Surgery, Scientific Center of Surgery, Almaty, Kazakhstan among 598 patients with pulmonary echinococcosis, who had surgical treatment with various surgical methods, depending on the prevalence of echinococcosis, as follows: right lung in 357 (59...
January 2018: Saudi Medical Journal
https://www.readbyqxmd.com/read/29321930/a-case-of-pulmonary-cyst-and-pneumothorax-after-bronchial-thermoplasty
#17
Akifumi Funatsu, Konomi Kobayashi, Motoyasu Iikura, Satoru Ishii, Shinyu Izumi, Haruhito Sugiyama
Bronchial thermoplasty (BT) is a bronchoscopic treatment for severe asthma using thermal energy to reduce smooth muscle in the bronchial wall. A 47-year-old man underwent BT for uncontrolled severe asthma despite maximal pharmacological treatment. After a third procedure, he experienced hypoxaemia because of complete bilateral upper lobe atelectasis. A pulmonary cyst suddenly emerged in to the right middle lobe, associated with the pneumothorax on postoperative day 6, and a chest drainage tube was inserted...
February 2018: Respirology Case Reports
https://www.readbyqxmd.com/read/29321196/birt-hogg-dub%C3%A3-syndrome-spontaneous-pneumothorax-as-a-first-symptom
#18
Kirse Bock, Zuzana Lohse, Poul Henning Madsen, Ole Hilberg
Birt-Hogg-Dubé syndrome (BHDS) is a rare hereditary autosomal dominant condition characterised by benign cutaneous lesions, lung cysts, increased risk of spontaneous pneumothorax and renal cancer. It shows great heterogenous presentation within and between affected families. We report a case of a Danish female patient with recurrent pneumothoraces as the first symptom of BHDS. Over the years, she developed skin changes, and a family history of skin changes, pneumothoraces and renal cancer was discovered. BHDS was suspected, a genetic analysis was performed and a pathogenic variation c...
January 9, 2018: BMJ Case Reports
https://www.readbyqxmd.com/read/29318995/sinistral-portal-hypertension-due-to-pancreatic-hydatid-cyst
#19
Tolga Canbak, Aylin Acar, Ali Ediz Kıvanç, Fatih Başak, Fatma Kulalı, Gürhan Baş
Hydatid disease is caused by Echinococcus granulosus. Hydatid cysts are commonly located in the liver and lungs. The occurrence of pancreatic hydatid cysts is very rare, even in endemic areas. Sinistral portal hypertension, which is rarely seen, occurs when a pathological process causes splenic vein occlusion. A 26-year-old male patient presented with abdominal pain. He had a history of operation for hydatid cyst of the lung 15 years ago. A left thoracotomy incision scar was observed during his physical examination...
December 2017: Türkiye Parazitolojii Dergisi
https://www.readbyqxmd.com/read/29315962/multiple-dicer1-related-tumors-in-a-child-with-a-large-interstitial-14q32-deletion
#20
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 an approximately 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 years: 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)...
January 9, 2018: Genes, Chromosomes & Cancer
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