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https://www.readbyqxmd.com/read/29441110/case-of-mucinous-adenocarcinoma-of-the-lung-associated-with-congenital-pulmonary-airway-malformation-in-a-neonate
#1
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/29390328/foregut-duplication-cyst-a-novel-computed-tomography-finding-mimicking-a-small-bowel-hernia-a-case-report
#2
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/29357828/birt-hogg-dub%C3%A3-syndrome-in-two-chinese-families-with-mutations-in-the-flcn-gene
#3
Xiaocan Hou, Yuan Zhou, Yun Peng, Rong Qiu, Kun Xia, Beisha Tang, Wei Zhuang, Hong Jiang
BACKGROUND: Birt-Hogg-Dubé syndrome is an autosomal dominant hereditary condition caused by mutations in the folliculin-encoding gene FLCN (NM_144997). It is associated with skin lesions such as fibrofolliculoma, acrochordon and trichodiscoma; pulmonary lesions including spontaneous pneumothorax and pulmonary cysts and renal cancer. METHODS: Genomic DNA was extracted from peripheral venous blood samples of the propositi and their family members. Genetic analysis was performed by whole exome sequencing and Sanger sequencing aiming at corresponding exons in FLCN gene to explore the genetic mutations of these two families...
January 22, 2018: BMC Medical Genetics
https://www.readbyqxmd.com/read/29350368/clinical-features-diagnosis-and-treatment-of-traumatic-pulmonary-pseudocysts
#4
Seray Hazer, Umut Perçem Orhan Söylemez
BACKGROUND: Traumatic pulmonary pseudocysts (TPP) are rare complications of blunt chest trauma. The aim of this study is to increase the understanding of this rare entity with imaging and clinical parameters for preventing complications and determining the correct treatment approach by observing 15 cases. METHODS: We retrospectively reviewed the medical data and thoracic computed tomography scans of 185 patients who underwent examinations in our department after chest trauma between July 2014 and December 2015...
January 2018: Ulusal Travma Ve Acil Cerrahi Dergisi, Turkish Journal of Trauma & Emergency Surgery: TJTES
https://www.readbyqxmd.com/read/29343557/dicer1-and-associated-conditions-%C3%A2-identification-of-at-risk-individuals-and-recommended-surveillance-strategies
#5
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
#6
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
#7
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/29304756/medical-treatment-of-an-unusual-cerebral-hydatid-disease
#8
Shu Chen, Ning Li, Feifei Yang, Jiqin Wu, Yuekai Hu, Shenglei Yu, Qi Chen, Xuan Wang, Xinyu Wang, Yuanyuan Liu, Jianming Zheng
BACKGROUND: Hydatid disease is a worldwide zoonosis produced by the larval stage of cestodes of the Echinococcus genus. Hydatid disease primarily involves the liver and lungs. The brain is involved in less than 2% of cases. Surgery has long been the only choice for the treatment, but chemotherapy has been successfully replaced surgery in some special cases. CASE PRESENTATION: We report a rare hydatid disease case which presented with multiple lesions in right frontal lobe, an uncommon site, and in the liver and lungs...
January 5, 2018: BMC Infectious Diseases
https://www.readbyqxmd.com/read/29250688/pulmonary-langerhans-cell-histiocytosis-in-a-26-year-old-female-still-a-diagnostic-challenge
#9
Edith Simona Ianoşi, Mihaela Mureşan, Simona Gurzu, Eugenia Corina Budin, Ioan Jung, Tivadar Bara, Gabriela Jimborean
Langerhans cell histiocytosis (LCH) is a rare disorder caused by monoclonal Langerhans cells proliferation in bone, skin, lung, lymph nodes, liver, spleen, nervous or hematopoietic system. Pulmonary LCH is a diagnostic trap that is displayed on computed tomography (CT) as an interstitial disorder with honeycomb aspect. In this paper, we present an unusual case of a 26-year-old female that was hospitalized with progressive worsening dyspnea and history of recurrent pneumonia. Lung biopsy showed fibrosis of the interalveolar septa, architectural distortion and large cells with foamy cytoplasm and convoluted nuclei that were marked by CD68, S-100 and the specific antibody CD1a that allowed establishing the diagnosis of pulmonary LCH...
2017: Romanian Journal of Morphology and Embryology, Revue Roumaine de Morphologie et Embryologie
https://www.readbyqxmd.com/read/29250670/an-overview-of-resistance-profiles-eskape-pathogens-from-2010-2015-in-a-tertiary-respiratory-center-in-romania
#10
Nicolae Ovidiu Peneş, Andrei Alexandru Muntean, Adriana Moisoiu, Mădălina Maria Muntean, Alexandru Chirca, Miron Alexandru Bogdan, Mircea Ioan Popa
Lower respiratory tract infections (LRTIs) is an umbrella term that covers a wide spectrum of diseases, comprising mild and severe, acute and chronic conditions. A wide spectrum of pathogens can be implicated, from viruses to pyogenic and atypical bacteria. A special place should be reserved for slow growing bacteria (Mycobacteria spp., Nocardia spp.) and parasites (i.e., hydatic cysts caused by Echinococcus granulosus). OBJECTIVE: The objective of this study is to observe, analyze and establish the drug susceptibility patterns for Enterococcus spp...
2017: Romanian Journal of Morphology and Embryology, Revue Roumaine de Morphologie et Embryologie
https://www.readbyqxmd.com/read/29237664/giant-retrocardiac-foregut-duplication-cyst-presenting-with-left-atrial-compression-and-palpitations
#11
Abdus Salam, Mujtaba Mubashir, Hadika Mubashir, Saulat Hasnain Fatimi
A 35-year-old man presented with a 3-month history of palpitations and shortness of breath. An ECG showed premature atrial contractions and episodes of supraventricular tachycardia. A subsequent echocardiogram showed a retrocardiac cystic mass that was compressing the left atrium. A CT scan confirmed these findings by showing a large left-sided posterior mediastinal cyst compressing the left atrium and pulmonary veins. The cyst was successfully excised from the retrocardiac position via left thoracotomy after which there was complete resolution of the palpitations...
December 13, 2017: BMJ Case Reports
https://www.readbyqxmd.com/read/29229322/-study-of-correlation-between-radiological-aspect-of-pulmonary-hydatid-cyst-and-postoperative-course
#12
W Abid, A Hentati, J Jdidi, Z Chaari, H Ben Jemaa, N Elleuch, J Dammak, I Frikha
Pulmonary Hydatid Cyst (PHC) may represent a real therapeutic challenge. Surgery remains the treatment of choice and postoperative course may be complicated in some cases. Several factors can be involved like the cyst's size and location. We aimed to study the existence of correlation between the radiological aspect of the PHC and the postoperative course through a retrospective study including 267 patients. Different radiological aspect of PHC found on the X-ray and/or computed tomography of the chest were classified according to Zidi et al...
December 8, 2017: Revue de Pneumologie Clinique
https://www.readbyqxmd.com/read/29220357/difference-of-the-progression-of-pulmonary-cysts-assessed-by-computed-tomography-among-copd-lymphangioleiomyomatosis-and-birt-hogg-dub%C3%A3-syndrome
#13
Kazunori Tobino, Toyohiro Hirai, Takeshi Johkoh, Kiminori Fujimoto, Atsushi Kawaguchi, Noriyuki Tomiyama, Kazuhisa Takahashi, Kuniaki Seyama
Many groups developed the methods to quantitatively analyze low attenuation area (LAA) on chest CT in patients with cystic lung diseases. Especially in COPD, it was reported that the cumulative size distribution of LAA clusters follows a power law characterized by the exponent D, which reflect the fractal dimension of terminal airspace geometry. We hypoyhesized that the quantitative charateristics of LAA clusters including fractal property might indicate the different features of the progression of cysts in cystic lung diseases...
2017: PloS One
https://www.readbyqxmd.com/read/29218210/primary-hydatid-disease-of-the-axilla-presenting-as-a-cystic-mass
#14
Mehmet Tolga Kafadar, İsmail Çetinkaya
Hydatid cysts is most often characterized by hepatic and pulmonary involvement, but it also rarely involves other body parts and systems. Axillary involvement by hydatid cysts is considerably rare in countries with endemic hydatid cyst manifestation, and cases from countries like Turkey are still widely reported. A young woman aged 24 years was seen at our clinic for a painful axillary mass. She was detected by a thoracoabdominal tomographic examination to have a localized multilocular cystic mass in her left axillary region; the mass showed little soft tissue invasion at its periphery but no hepatic or pulmonary involvement at all...
November 2017: Journal of Surgical Case Reports
https://www.readbyqxmd.com/read/29216800/vascular-ehlers-danlos-syndrome-with-a-novel-missense-col3a1-mutation-present-with-pulmonary-complications-and-iliac-arterial-dissection
#15
Guangchao Gu, Hang Yang, Lijia Cui, Yuanyuan Fu, Fangda Li, Zhou Zhou, Yuehong Zheng
Vascular Ehlers-Danlos syndrome (vEDS) is a life-threatening connective tissue disorder due to its high tendency of arterial and organ rupture. Pulmonary complications in vEDS are rare. We present a young male patient with vEDS who developed severe pulmonary complications and severe rupture of the iliac artery at different stages of his life. Vascular Ehlers-Danlos syndrome was diagnosed based on clinical manifestations and confirmed by the identification of COL3A1 gene mutation. Due to high bleeding tendency and weak cardiopulmonary capacity, conservative treatment was taken for him...
January 1, 2017: Vascular and Endovascular Surgery
https://www.readbyqxmd.com/read/29197847/perforated-neuroenteric-cyst-masquerading-as-congenital-pulmonary-airway-malformation
#16
Sreekar Gundapaneni, Vishesh Jain, Shilpa Sharma, Devendra Kumar Gupta
A 3-month-old child was presented with haemoptysis with respiratory distress. Imaging was suggestive of a cavitary lesion in the lung with surrounding consolidation. Diagnosis of a primary lung pathology like congenital pulmonary airway malformation was considered. Based on clinical suspicion and prior experience, a Tc-99m pertechnetate radionuclide study was performed, which clinched the diagnosis of foregut duplication cyst. Intraoperative findings confirmed the presence of a neuroenteric cyst. The child remains asymptomatic on follow-up awaiting neurosurgical intervention for the intraspinal component of the cyst...
December 2, 2017: BMJ Case Reports
https://www.readbyqxmd.com/read/29181500/perinatal-diagnosis-management-and-follow-up-of-cystic-renal-diseases-a-clinical-practice-recommendation-with-systematic-literature-reviews
#17
Charlotte Gimpel, Fred E Avni, Carsten Bergmann, Metin Cetiner, Sandra Habbig, Dieter Haffner, Jens König, Martin Konrad, Max C Liebau, Lars Pape, Georg Rellensmann, Andrea Titieni, Constantin von Kaisenberg, Stefanie Weber, Paul J D Winyard, Franz Schaefer
Importance: Prenatal and neonatal cystic kidney diseases are a group of rare disorders manifesting as single, multiple unilateral, or bilateral cysts or with increased echogenicity of the renal cortex without macroscopic cysts. They may be accompanied by grossly enlarged kidneys, renal oligohydramnios, pulmonary hypoplasia, extrarenal abnormalities, and neonatal kidney failure. The prognosis is extremely variable from trivial to very severe or even uniformly fatal, which poses significant challenges to prenatal counseling and management...
November 27, 2017: JAMA Pediatrics
https://www.readbyqxmd.com/read/29175081/epithelial-mesenchymal-crosstalk-influences-cellular-behavior-in-a-3d-alveolus-fibroblast-model-system
#18
Katherine J R Lewis, Jessica K Hall, Emi A Kiyotake, Tova Christensen, Vivek Balasubramaniam, Kristi S Anseth
Interactions between lung epithelium and interstitial fibroblasts are increasingly recognized as playing a major role in the progression of several lung pathologies, including cancer. Three-dimensional in vitro co-culture systems offer tissue-relevant platforms to study the signaling interplay between diseased and healthy cell types. Such systems provide a controlled environment in which to probe the mechanisms involved in epithelial-mesenchymal crosstalk. To recapitulate the native alveolar tissue architecture, we employed a cyst templating technique to culture alveolar epithelial cells on photodegradable microspheres and subsequently encapsulated the cell-laden spheres within poly (ethylene glycol) (PEG) hydrogels containing dispersed pulmonary fibroblasts...
February 2018: Biomaterials
https://www.readbyqxmd.com/read/29169151/cystic-lung-disease-in-genetic-syndromes-with-deficient-tumor-suppressor-gene-function
#19
Cécile Daccord, Laurent P Nicod, Romain Lazor
Cystic lung diseases constitute a distinct group of rare lung disorders, among which two result from monogenic defects affecting tumor suppressor genes: lymphangioleiomyomatosis, either sporadic or associated with tuberous sclerosis complex, and Birt-Hogg-Dubé syndrome. These disorders have similarities in their clinical expression, including occurrence in young adults, multiple pulmonary cysts, recurrent pneumothorax, skin hamartomas, and renal tumors. However, they markedly differ in their gender distribution, pathogenesis, disease course, and prognosis...
November 23, 2017: Respiration; International Review of Thoracic Diseases
https://www.readbyqxmd.com/read/29157599/skin-lesions-of-birt-hogg-dub%C3%A3-syndrome-clinical-and-histopathological-findings-in-31-japanese-patients-who-presented-with-pneumothorax-and-or-multiple-lung-cysts
#20
Chikako Iwabuchi, Hiroki Ebana, Akira Ishiko, Azusa Negishi, Teruaki Mizobuchi, Toshio Kumasaka, Masatoshi Kurihara, Kuniaki Seyama
BACKGROUND: Birt-Hogg-Dubé syndrome (BHDS) (OMIM #135150) is an autosomal dominant disease, characterized by fibrofolliculomas (FFs) of the skin, pulmonary cysts with/without pneumothorax, and renal tumors. The prevalence of skin manifestations reported for Japanese BHDS patients is lower (<30%) compared with that of Western countries (75∼90%), which appear to be underestimated. OBJECTIVE: To precisely examine the prevalence of skin lesions with dermoscopy and histopathology with reference to genetic analyses...
November 2, 2017: Journal of Dermatological Science
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