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https://www.readbyqxmd.com/read/28649564/primary-ciliary-dyskinesia-an-update-on-clinical-aspects-genetics-diagnosis-and-future-treatment-strategies
#1
REVIEW
Virginia Mirra, Claudius Werner, Francesca Santamaria
Primary ciliary dyskinesia (PCD) is an orphan disease (MIM 244400), autosomal recessive inherited, characterized by motile ciliary dysfunction. The estimated prevalence of PCD is 1:10,000 to 1:20,000 live-born children, but true prevalence could be even higher. PCD is characterized by chronic upper and lower respiratory tract disease, infertility/ectopic pregnancy, and situs anomalies, that occur in ≈50% of PCD patients (Kartagener syndrome), and these may be associated with congenital heart abnormalities...
2017: Frontiers in Pediatrics
https://www.readbyqxmd.com/read/28649310/lung-ultrasound-has-limited-diagnostic-value-in-rare-cystic-lung-diseases-a-cross-sectional-study
#2
Jesper Rømhild Davidsen, Elisabeth Bendstrup, Daniel P Henriksen, Ole Graumann, Christian B Laursen
Background: Lung ultrasound (LUS) used to identify interstitial syndrome (IS) and pleural thickening related to diffuse parenchymal lung disease (DPLD) has shown significant correlations with ground glass opacity (GGO) on high-resolution computed tomography (HRCT). However, the applicability of LUS in patients with DPLD subtypes as rare cystic lung diseases has not previously been investigated. This study aimed to observe if distinctive LUS findings could be found in patients with lymphangioleiomyomatosis (LAM), pulmonary Langerhans cell histiocytosis (PLCH), and Birt-Hogg-Dubé syndrome (BHDS)...
2017: European Clinical Respiratory Journal
https://www.readbyqxmd.com/read/28645458/pulmonary-3-he-magnetic-resonance-imaging-biomarkers-of-regional-airspace-enlargement-in-alpha-1-antitrypsin-deficiency
#3
Eric Lessard, Heather M Young, Anurag Bhalla, Damien Pike, Khadija Sheikh, David G McCormack, Alexei Ouriadov, Grace Parraga
RATIONALE AND OBJECTIVES: Thoracic x-ray computed tomography (CT) and hyperpolarized (3)He magnetic resonance imaging (MRI) provide quantitative measurements of airspace enlargement in patients with emphysema. For patients with panlobular emphysema due to alpha-1 antitrypsin deficiency (AATD), sensitive biomarkers of disease progression and response to therapy have been difficult to develop and exploit, especially those biomarkers that correlate with outcomes like quality of life. Here, our objective was to generate and compare CT and diffusion-weighted inhaled-gas MRI measurements of emphysema including apparent diffusion coefficient (ADC) and MRI-derived mean linear intercept (Lm) in patients with AATD, chronic obstructive pulmonary disease (COPD) ex-smokers, and elderly never-smokers...
June 20, 2017: Academic Radiology
https://www.readbyqxmd.com/read/28644254/sporadic-creutzfeldt-jakob-disease-with-unilateral-symptoms-in-the-setting-of-metastatic-renal-cell-carcinoma
#4
Kyle C Rossi, Christine M Stahl, Pengfei Zhang, John W Liang, Lara V Marcuse, Fred Lublin
INTRODUCTION: Although it is not rare for magnetic resonance imaging findings in Creutzfeldt-Jakob disease to be asymmetric, unilateral clinical syndromes are uncommonly reported and may confound diagnosis. In addition, neurological paraneoplastic syndromes are not common in renal cell carcinoma, though there are cases reported, often without an offending antibody isolated. CASE REPORT: A 66-year-old man was admitted with 1 month of left-sided numbness and "loss of control" of the left arm...
July 2017: Neurologist
https://www.readbyqxmd.com/read/28637050/ultrasonography-for-the-diagnosis-of-pneumothorax-after-transbronchial-lung-cryobiopsy-in-diffuse-parenchymal-lung-diseases
#5
Luca Viglietta, Riccardo Inchingolo, Cristina Pavano, Sara Tomassetti, Sara Piciucchi, Andrea Smargiassi, Claudia Ravaglia, Alessandra Dubini, Christian Gurioli, Carlo Gurioli, Venerino Poletti
BACKGROUND: Transbronchial lung cryobiopsy (TBLC) can be indicated in diffuse parenchymal lung diseases (DPLDs) when a confident noninvasive diagnosis cannot be made. The 2 most relevant complications of TBLC are bleeding and pneumothorax (PTX). The accuracy of chest ultrasonography (US) for the detection of PTX is higher when compared to chest X-ray (CXR) with reference to computed tomography (CT) scan as a gold standard. OBJECTIVE: We evaluated the accuracy of chest US in detecting PTX after TBLC in patients with DPLDs...
June 22, 2017: Respiration; International Review of Thoracic Diseases
https://www.readbyqxmd.com/read/28631694/-the-influence-of-stat4-rs7574865-g-t-polymorphism-on-the-risk-of-clinical-and-immunological-phenotypes-of-systemic-sclerosis-in-a-russian-patient-population-results-of-a-pilot-study
#6
M Yu Krylov, L P Ananyeva, О А Koneva, M N Starovoytova, O V Desinova, O B Ovsyannikova, E N Aleksandrova, A A Novikov, I A Guseva, N V Konovalova, D A Varlamov
AIM: To examine the association of signal transducer and activator transcription 4 (STAT4) rs7574865 G/T polymorphism with a predisposition to systemic sclerosis (SSC) and associated clinical and autoimmune phenotypes in a Russian population. SUBJECTS AND METHODS: A total of 102 patients with SSC and 103 healthy individuals as controls were examined. STAT4 rs7574865 polymorphism was investigated by real-time polymerase chain reaction. RESULTS: The carriers of the T allele showed a statistically significant association with SSC, a diffuse form (DF), the presence of interstitial lung disease (ILD), cardiac injury (CI), and seropositivity for anti-topoisomerase I antibodies (ATA)...
2017: Terapevticheskiĭ Arkhiv
https://www.readbyqxmd.com/read/28629605/ct-findings-in-11-patients-with-tafro-syndrome-a-variant-of-multicentric-castleman-s-disease
#7
T Kiguchi, C Sato, K Takai, Y Nakai, Y Kaneko, M Matsuki
AIM: To assess detailed computed tomography (CT) findings in patients with the recently described thrombocytopenia, anasarca, fever, reticulin fibrosis, and organomegaly (TAFRO) syndrome, in order to contribute to imaging interpretation in the challenging diagnosis of this disease. MATERIALS AND METHODS: The institutional review board approved this retrospective study and waived the need for informed consent. Eleven patients (six men, five women; mean age, 52.5 years) with confirmed TAFRO syndrome were included in this study...
June 16, 2017: Clinical Radiology
https://www.readbyqxmd.com/read/28626631/chronic-eosinophilic-pneumonia-adjunctive-therapy-with-inhaled-steroids
#8
Christopher Chan, David DeLapp, Perry Nystrom
Idiopathic chronic eosinophilic pneumonia (ICEP) is a rare form of diffuse parenchymal lung disease first identified by Carrington et al. in 1969. It is characterized by the presence of constitutional and respiratory symptoms with associated peripheral opacities on imaging and elevated serum and/or bronchoalveolar eosinophilia. Although data is limited regarding etiology or prevalence, it is known that ICEP has a 2:1 female: male predominance and typically affects non-smokers. Diagnosis rests on the clinical constellation of respiratory symptoms of at least 2-4 weeks duration, the presence of diffuse pulmonary alveolar consolidation, classically described as the "photographic negative of pulmonary edema", the presence of eosinophils ≥40% on bronchoalveolar lavage or ≥1000/mm(3) eosinophils on peripheral blood and the exclusion of other known causes of eosinophilic lung diseases such as drugs, toxins, fungi, parasites, and collagen-vascular disorders...
2017: Respiratory Medicine Case Reports
https://www.readbyqxmd.com/read/28626260/a-case-of-api2-malt1-positive-gastric-malt-lymphoma-with-concomitant-diffuse-large-b-cell-lymphoma
#9
Akashi Fujita, Masahiro Tajika, Tsutomu Tanaka, Makoto Ishihara, Yutaka Hirayama, Nobumasa Mizuno, Kazuo Hara, Susumu Hijioka, Hiroshi Imaoka, Tsukasa Yoshida, Nozomi Okuno, Nobuhiro Hieda, Takashi Hirayama, Hitoshi Shibuya, Hisashi Kondo, Hirotaka Suzuki, Kazuhiro Toriyama, Yasushi Yatabe, Kenji Yamao, Yasumasa Niwa
API2-MALT1 translocation-positive gastric marginal zone lymphomas of mucosa-associated lymphoid tissue (MALT) lymphoma is thought to transform to diffuse large B-cell lymphoma (DLBCL) rarely. A 69-year-old man presented with epigastralgia. Esophagogastroduodenoscopy showed multiple ulcerations in the stomach. Endoscopic biopsies revealed MALT lymphoma, with Helicobacter pylori infection. The patient underwent eradication therapy with no improvement, and was thereafter followed without additional therapy at his request...
February 2017: Nagoya Journal of Medical Science
https://www.readbyqxmd.com/read/28623539/pneumothorax-after-transbronchial-biopsy-in-pulmonary-fibrosis-lessons-from-the-multicenter-comet-trial
#10
Jonathan A Galli, Nicholas L Panetta, Nathaniel Gaeckle, Fernando J Martinez, Bethany Moore, Thomas Moore, Anthony Courey, Kevin Flaherty, Gerard J Criner
PURPOSE: Some patients with diffuse interstitial lung disease (ILD) undergo bronchoscopy with transbronchial biopsy (TBB) as part of their diagnostic evaluation. It is unclear what the incidence and risk factors for pneumothorax (PTX) following TBB are in this patient population. METHODS: Ninety-seven subjects with pulmonary fibrosis who underwent a research bronchoscopy with TBB as part of the multicenter correlating outcomes with biochemical markers to estimate time-progression in idiopathic pulmonary fibrosis (COMET) trial were retrospectively reviewed...
June 16, 2017: Lung
https://www.readbyqxmd.com/read/28619955/pulmonary-artery-to-aorta-ratio-and-risk-of-all-cause-mortality-in-the-general-population-the-rotterdam-study
#11
Natalie Terzikhan, Daniel Bos, Lies Lahousse, Lennard Wolff, Katia M C Verhamme, Maarten J G Leening, Janine F Felix, Henning Gall, Hossein A Ghofrani, Oscar H Franco, M Arfan Ikram, Bruno H Stricker, Aad van der Lugt, Guy Brusselle
A pulmonary artery to aorta ratio (PA:A) >1 is a proxy of pulmonary hypertension. It is not known whether this measure carries prognostic information in the general population and in individuals with chronic obstructive pulmonary disease (COPD).Between 2003 and 2006, 2197 participants from the population-based Rotterdam Study (mean±sd age 69.7±6.7 years; 51.3% female), underwent cardiac computed tomography (CT) scanning with PA:A quantification, defined as the ratio between the diameters of the pulmonary artery and the aorta...
June 2017: European Respiratory Journal: Official Journal of the European Society for Clinical Respiratory Physiology
https://www.readbyqxmd.com/read/28616240/metastatic-pancreatic-carcinoma-masquerading-as-cystic-lung-disease-a-rare-presentation
#12
Emily Stern, Taha Huseini, YiJin Kuok, Fiona Lake
This 52-year-old male ex-smoker presented with a six-month history of progressive breathlessness and weight loss. He deteriorated acutely, and was admitted with severe type 1 respiratory failure. Apart from diffuse coarse crackles on chest auscultation, physical examination was unremarkable. High-resolution computed tomography (HRCT) showed diffuse cystic changes throughout the lungs. A diagnosis of pulmonary Langerhans cell histiocytosis (PLCH) was considered. Further workup identified a coincidental pancreatic lesion of uncertain significance, which remained indeterminate on magnetic resonance imaging (MRI) and on positron emission tomography (PET)...
September 2017: Respirology Case Reports
https://www.readbyqxmd.com/read/28615307/the-role-of-high-resolution-computed-tomography-in-the-follow-up-of-diffuse-lung-disease-number-2-in-the-series-radiology-edited-by-nicola-sverzellati-and-sujal-desai
#13
Brett M Elicker, Kimberly G Kallianos, Travis S Henry
High-resolution computed tomography (HRCT) of the lung is a key component of the multidisciplinary approach to diagnosis in diffuse lung disease (DLD). HRCT also plays an important role in the follow-up of patients with established DLD. In this respect, serial HRCT examinations may provide valuable information that cannot be determined from clinical history and other diagnostic tests, such as pulmonary function tests. Important roles of HRCT in this context include assisting in determining prognosis, monitoring for the efficacy of treatment, detecting progression of disease or complications, and evaluating patients with worsening or acute symptoms...
June 30, 2017: European Respiratory Review: An Official Journal of the European Respiratory Society
https://www.readbyqxmd.com/read/28613912/molecular-and-immune-biomarkers-in-acute-respiratory-distress-syndrome-a-perspective-from-members-of-the-pulmonary-pathology-society
#14
Vera Luiza Capelozzi, Timothy Craig Allen, Mary Beth Beasley, Philip T Cagle, Don Guinee, Lida P Hariri, Aliya N Husain, Deepali Jain, Sylvie Lantuejoul, Brandon T Larsen, Ross Miller, Mari Mino-Kenudson, Mehrad Mitra, Kirtee Raparia, Anja Roden, Frank Schneider, Lynette M Sholl, Maxwell Lawrence Smith
Acute respiratory distress syndrome (ARDS) is a multifactorial syndrome with high morbidity and mortality rates, characterized by deficiency in gas exchange and lung mechanics that lead to hypoxemia, dyspnea, and respiratory failure. Histologically, ARDS is characterized by an acute, exudative phase, combining diffuse alveolar damage and noncardiogenic edema, followed by a later fibroproliferative phase. Despite an enhanced understanding of ARDS pathogenesis, the capacity to predict the development of ARDS and to risk-stratify patients with the disease remains limited...
June 14, 2017: Archives of Pathology & Laboratory Medicine
https://www.readbyqxmd.com/read/28605620/case-report-of-diffusely-metastatic-rectal-gist
#15
Yana Puckett, Amir Aryaie
This is a case report of an aggressive, diffusely disseminated Stage IV rectal gastrointestinal stromal tumor (GIST) in a 57-year-old male that presented for symptoms of malaise, constipation, and twenty pound weight loss in 2 months. Upon rectal examination, a hard 4centimeter submucosal mass was found at the 9-12 o'clock position. Liver and lung metastases were visualized on computerized tomography (CT) of the chest, abdomen, and pelvis on metastatic work-up. He was deemed a poor surgical candidate due to diffuse metastatic disease and referred for palliative chemotherapy...
June 1, 2017: International Journal of Surgery Case Reports
https://www.readbyqxmd.com/read/28599429/disseminated-carcinomatosis-of-the-bone-marrow-with-disseminated-intravascular-coagulation-as-the-first-symptom-of-recurrent-rectal-cancer-successfully-treated-with-chemotherapy-a-case-report-and-review-of-the-literature
#16
Hiroshi Takeyama, Tsutomu Sakiyama, Tomoko Wakasa, Kotaro Kitani, Keisuke Inoue, Hiroaki Kato, Shinya Ueda, Masanori Tsujie, Yoshinori Fujiwara, Masao Yukawa, Yoshio Ohta, Masatoshi Inoue
Disseminated carcinomatosis of the bone marrow (DCBM) is a condition in which bone marrow (BM) metastases diffusely invade the BM, and is frequently accompanied by disseminated intravascular coagulation (DIC). While prostate, lung, breast and stomach malignancies, in addition to neuroblastoma, are the most prevalent non-hematological malignancies to metastasize frequently to the BM, colorectal cancer is a malignancy that rarely metastasizes to the BM. The present case describes a 65-year-old male patient treated by resection and one course adjuvant chemotherapy for stage IIIC rectal cancer who presented with nasal bleeding at 8 months post-surgery...
June 2017: Oncology Letters
https://www.readbyqxmd.com/read/28598732/pulmonary-function-tests-for-the-radiologist
#17
Hsiang-Jer Tseng, Travis S Henry, Srihari Veeraraghavan, Pardeep K Mittal, Brent P Little
Pulmonary function tests (PFTs) provide important quantitative information about lung function and can be used to elucidate pathologic conditions responsible for respiratory symptoms, assess the severity and course of disease, and evaluate the patient for suitability and timing for lung transplantation. They are typically used in tandem with chest imaging, along with other ancillary data, to arrive at a specific diagnosis. PFTs may provide the radiologist with clues to the diagnosis and grading of a wide variety of pulmonary diseases...
June 9, 2017: Radiographics: a Review Publication of the Radiological Society of North America, Inc
https://www.readbyqxmd.com/read/28595790/trace-metals-in-fluids-lining-the-respiratory-system-of-patients-with-idiopathic-pulmonary-fibrosis-and-diffuse-lung-diseases
#18
REVIEW
Elena Bargagli, Federico Lavorini, Massimo Pistolesi, Elisabetta Rosi, Antje Prasse, Emilia Rota, Luca Voltolini
Idiopathic pulmonary fibrosis (IPF) is an interstitial lung disease with a poor prognosis and an undefined etiopathogenesis. Oxidative stress contributes to alveolar injury and fibrosis development and, because transition metals are essential to the functioning of most proteins involved in redox reactions, a better knowledge of metal concentrations and metabolism in the respiratory system of IPF patients may provide a valuable complementary approach to prevent and manage a disease which is often misdiagnosed or diagnosed in later stages...
July 2017: Journal of Trace Elements in Medicine and Biology
https://www.readbyqxmd.com/read/28592030/-follicular-bronchiolitis-report-of-3-cases-and-literature-review
#19
J Dai, H R Cai, Y Li, F Q Meng, J Q Wu
Objective: To improve understanding of the characteristics of follicular bronchiolitis(FB). Methods: The clinical data of 3 patients with FB confirmed by thoracoscopic lung biopsy were retrospectively analyzed. A literature search was performed with "follicular bronchiolitis" as the key word in China Knowledge Resource Integrated Database, Wanfang and PubMed, Ovid Database. The time interval was from January 1947 to December 2015. Related articles of FB were retrieved and the clinical, radiographic characteristics and prognosis were analyzed...
June 12, 2017: Chinese Journal of Tuberculosis and Respiratory Diseases
https://www.readbyqxmd.com/read/28592028/-analysis-of-12-cases-of-exogenous-lipoid-pneumonia-confirmed-by-pathology
#20
Y X Wang, F Fang, Y F Guo, Y M Li, T Y Sun, M Zhang, J Chen, B M Fang
Objective: To study the etiological, clinical, radiological, diagnostic, therapeutic, and prognostic manifestations of exogenous lipoid pneumonia (ELP), and therefore to improve the diagnosis and treatment of this disease. Methods: The clinical data of 12 cases of ELP confirmed by pathology were retrospectively analyzed. Results: The patients consisted of 9 males and 3 females, with an average age of 73.8 years (range, 44 to 100 years). The underlying diseases were variable, including diseases affecting the general condition (multiple organ failure, chronic heart and renal insufficiency, pemphigoid, etc) and conditions with increased risk of aspiration (sequelae of cerebrovascular disease, Alzheimer's disease, advanced stage of nasopharyngeal carcinoma, paralytic ileus, etc)...
June 12, 2017: Chinese Journal of Tuberculosis and Respiratory Diseases
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