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https://www.readbyqxmd.com/read/29124658/atypical-hrct-manifestations-of-pulmonary-sarcoidosis
#1
Diletta Cozzi, Elena Bargagli, Alessandro Giuseppe Calabrò, Elena Torricelli, Federico Giannelli, Edoardo Cavigli, Vittorio Miele
PURPOSE: To present our experience of cases of pulmonary sarcoidosis with atypical HRCT patterns found during 2016 focusing on the differential diagnosis to contribute to the difficult role of the radiologist in the disease identification and to help the clinicians to reach the diagnosis. MATERIALS AND METHODS: The HRCT examinations of 47 patients with sarcoidosis were studied retrospectively. All patients had a histopathological confirm of the disease. 29 (61.7%) show a typical pulmonary pattern and 18 (38...
November 9, 2017: La Radiologia Medica
https://www.readbyqxmd.com/read/29090365/cd56-immune-cell-infiltration-and-mica-are-decreased-in-breast-lobules-with-fibrocystic-changes
#2
Daniel Kerekes, Daniel W Visscher, Tanya L Hoskin, Derek C Radisky, Rushin D Brahmbhatt, Alvaro Pena, Marlene H Frost, Muhammad Arshad, Melody Stallings-Mann, Stacey J Winham, Linda Murphy, Lori Denison, Jodi M Carter, Keith L Knutson, Amy C Degnim
PURPOSE: While the role of natural killer (NK) cells in breast cancer therapy has been investigated, little information is known about NK cell function and presence in nonmalignant and premalignant breast tissue. Here, we investigate and quantify NK cell marker CD56 and activating ligand MICA in breast tissue with benign breast disease. METHODS: Serial tissue sections from 88 subjects, 44 with benign breast disease (BBD) who remained cancer-free, and 44 with BBD who later developed cancer, were stained with H&E, anti-MICA, and anti-CD56...
November 1, 2017: Breast Cancer Research and Treatment
https://www.readbyqxmd.com/read/29082377/sub-classification-of-breast-masses-by-fine-needle-aspiration-cytology
#3
C I Madubogwu, C O Ukah, Snc Anyanwu, G U Chianakwana, I V Onyiaorah, Dcd Anyiam
OBJECTIVE: The aim of this study is to evaluate the accuracy of sub-classification of breast diseases using Fine Needle Aspiration cytology (FNAC). MATERIALS AND METHODS: A one-year prospective study of 180 consecutive patients with palpable breast lesions who underwent FNAC and subsequently open surgical biopsy for histological confirmation. FNAC was used to sub-classify breast lesions and then correlated with histological diagnosis. RESULTS: A total of 180 patients were enrolled into the study but only 110 patients with histology report were used for test validity...
October 2017: European Journal of Breast Health
https://www.readbyqxmd.com/read/29052317/defective-ciliogenesis-in-inpp5e-related-joubert-syndrome
#4
Isabel Hardee, Ariane Soldatos, Mariska Davids, Thierry Vilboux, Camilo Toro, Karen L David, Carlos R Ferreira, Michele Nehrebecky, Joseph Snow, Audrey Thurm, Theo Heller, Ellen F Macnamara, Meral Gunay-Aygun, Wadih M Zein, William A Gahl, May Christine V Malicdan
Joubert syndrome is a neurodevelopmental disorder, characterized by malformation of the mid and hindbrain leading to the pathognomonic molar tooth appearance of the brainstem and cerebellum on axial MRI. Core clinical manifestations include hypotonia, tachypnea/apnea, ataxia, ocular motor apraxia, and developmental delay of varying degrees. In addition, a subset of patients has retinal dystrophy, chorioretinal colobomas, hepatorenal fibrocystic disease, and polydactyly. Joubert syndrome exhibits genetic heterogeneity, with mutations identified in more than 30 genes, including INPP5E, a gene encoding inositol polyphosphate 5-phosphatase E, which is important in the development and stability of the primary cilium...
December 2017: American Journal of Medical Genetics. Part A
https://www.readbyqxmd.com/read/29048330/calibration-and-analysis-of-a-multimodal-micro-ct-and-structured-light-imaging-system-for-the-evaluation-of-excised-breast-tissue
#5
David Martin McClatchy Iii, Elizabeth J Rizzo, Jeff Meganck, Josh Kempner, Jared Vicory, Wendy A Wells, Keith D Paulsen, Brian W Pogue
A multimodal micro-computed tomography (CT) and multi-spectral structured light imaging (SLI) system is introduced and systematically analyzed to test its feasibility to aid in margin delineation during breast conserving surgery (BCS). Phantom analysis of the micro-CT yielded a signal-to-noise ratio (SNR) of 34, a contrast of 1.64, and a minimum detectable resolution of 240 m for a 1.2 min scan. The SLI system, spanning wavelengths 490 nm to 800 nm and spatial frequencies up to 1.37 mm-1, was evaluated with aqueous tissue simulating phantoms having variations in particle size distribution, scatter density, and blood volume fraction...
October 19, 2017: Physics in Medicine and Biology
https://www.readbyqxmd.com/read/28952822/recent-advances-in-the-molecular-diagnosis-of-polycystic-kidney-disease
#6
Carsten Bergmann
Polycystic kidney disease (PKD) is clinically and genetically heterogeneous and constitutes the most common heritable kidney disease. Most patients are affected by the autosomal dominant form (ADPKD) which generally is an adult-onset multisystem disorder. By contrast, the rarer recessive form ARPKD usually already manifests perinatally or in childhood. In some patients, however, ADPKD and ARPKD can phenotypically overlap with early manifestation in ADPKD and only late onset in ARPKD. Progressive fibrocystic renal changes are often accompanied by severe hepatobiliary changes or other extrarenal abnormalities...
November 16, 2017: Expert Review of Molecular Diagnostics
https://www.readbyqxmd.com/read/28846009/metabolic-response-to-omega-3-fatty-acids-and-vitamin-e-co-supplementation-in-patients-with-fibrocystic-breast-disease-a-randomized-double-blind-placebo-controlled-trial
#7
Seyyed Mehdi Mirhashemi, Mehdi Sahmani, Behnaz Salehi, Javad Zavar Reza, Mohsen Taghizadeh, Nushin Moussavi, Bita Badehnoosh, Zatollah Asemi
BACKGROUND: There is scarce data on the effects of omega-3 fatty acids and vitamin E co-supplementation on metabolic status in patients with fibrocystic breast disease (FBD). The current study was carried out to determine the effects of omega-3 fatty acids and vitamin E co-supplementation on metabolic status in patients with FBD. METHODS: A randomized clinical trial was conducted on 56 patients with FBD. Participants were randomly divided into two groups to receive either 1000 mg omega-3 fatty acids plus 400 mg vitamin E (n = 28) or placebo (n = 28) for 12 weeks...
August 2017: Archives of Iranian Medicine
https://www.readbyqxmd.com/read/28649033/danazol-alters-mitochondria-metabolism-of-fibrocystic-breast-mcf10a-cells
#8
Zhazira Irgebay, Banu Yeszhan, Bhaswati Sen, Sultan Tuleukhanov, Ari D Brooks, Richard Sensenig, Zulfiya Orynbayeva
Fibrocystic Breast Disease (FBD) or Fibrocystic change (FC) affects about 60% of women at some time during their life. Although usually benign, it is often associated with pain and tenderness (mastalgia). The synthetic steroid danazol has been shown to be effective in reducing the pain associated with FBD, but the cellular and molecular mechanisms for its action have not been elucidated. We investigated the hypothesis that danazol acts by affecting energy metabolism. Effects of danazol on Mcf10A cells homeostasis, including mechanisms of oxidative phosphorylation, cytosolic calcium signaling and oxidative stress, were assessed by high-resolution respirometry and flow cytometry...
October 2017: Breast: Official Journal of the European Society of Mastology
https://www.readbyqxmd.com/read/28625504/mutations-in-armc9-which-encodes-a-basal-body-protein-cause-joubert-syndrome-in-humans-and-ciliopathy-phenotypes-in-zebrafish
#9
Julie C Van De Weghe, Tamara D S Rusterholz, Brooke Latour, Megan E Grout, Kimberly A Aldinger, Ranad Shaheen, Jennifer C Dempsey, Sateesh Maddirevula, Yong-Han H Cheng, Ian G Phelps, Matthias Gesemann, Himanshu Goel, Ohad S Birk, Talal Alanzi, Rifaat Rawashdeh, Arif O Khan, Michael J Bamshad, Deborah A Nickerson, Stephan C F Neuhauss, William B Dobyns, Fowzan S Alkuraya, Ronald Roepman, Ruxandra Bachmann-Gagescu, Dan Doherty
Joubert syndrome (JS) is a recessive neurodevelopmental disorder characterized by hypotonia, ataxia, abnormal eye movements, and variable cognitive impairment. It is defined by a distinctive brain malformation known as the "molar tooth sign" on axial MRI. Subsets of affected individuals have malformations such as coloboma, polydactyly, and encephalocele, as well as progressive retinal dystrophy, fibrocystic kidney disease, and liver fibrosis. More than 35 genes have been associated with JS, but in a subset of families the genetic cause remains unknown...
July 6, 2017: American Journal of Human Genetics
https://www.readbyqxmd.com/read/28611971/diagnosis-and-management-of-hepatobiliary-complications-in-autosomal-recessive-polycystic-kidney-disease
#10
REVIEW
Andrew Wehrman, Alyssa Kriegermeier, Jessica Wen
Autosomal recessive polycystic kidney disease (ARPKD) is a congenital hepatorenal fibrocystic disease. The hepatic manifestations of ARPKD can range from asymptomatic to portal hypertension and massively dilated biliary system that results in liver transplantation. Hepatic complications of ARPKD typically present with signs of portal hypertension (splenomegaly and thrombocytopenia) or cholangitis. Liver disease in ARPKD does not always correlate with severity of renal disease. Management of ARPKD-related liver disease is largely treating specific symptoms, such as antibiotics for cholangitis or endoscopic treatment for variceal bleeding...
2017: Frontiers in Pediatrics
https://www.readbyqxmd.com/read/28598826/the-evaluation-of-the-effect-of-metformin-on-breast-fibrocystic-disease
#11
A Talaei, A Moradi, F Rafiei
No abstract text is available yet for this article.
June 2, 2017: Breast Disease
https://www.readbyqxmd.com/read/28515578/imaging-in-ductal-plate-malformations
#12
Binit Sureka, Archana Rastogi, Chhagan Bihari, Kishore G S Bharathy, Vikrant Sood, Seema Alam
Ductal plate malformations are a heterogenous group of congenital fibrocystic liver diseases resulting from insult to the ductal plate at various stages of embryogenesis. As a result various biliary malformations, cysts, hamartomas and congenital hepatic fibrosis may be seen. We present a radiological pictorial of ductal plate malformations, accurate diagnosis of which is important for clinical management.
January 2017: Indian Journal of Radiology & Imaging
https://www.readbyqxmd.com/read/28473971/design-and-implementation-of-the-hepatorenal-fibrocystic-disease-core-center-clinical-database-a-centralized-resource-for-characterizing-autosomal-recessive-polycystic-kidney-disease-and-other-hepatorenal-fibrocystic-diseases
#13
Bakri Alzarka, Hiroki Morizono, John W Bollman, Dongkyu Kim, Lisa M Guay-Woodford
Autosomal recessive polycystic kidney disease (ARPKD) and other hepatorenal fibrocystic diseases (HRFD) are relatively rare recessive disorders that constitute an important set of childhood nephropathies. Little is known about fundamental pathogenesis, and advances toward clinical trials will require well-characterized patient cohorts and the development of predictive and prognostic biomarkers. Such studies in rare diseases require greater collaboration than the efforts in common diseases where large patient repositories can be built at a single site...
2017: Frontiers in Pediatrics
https://www.readbyqxmd.com/read/28416225/b-type-natriuretic-peptide-overexpression-ameliorates-hepatorenal-fibrocystic-disease-in%C3%A2-a%C3%A2-rat%C3%A2-model-of-polycystic-kidney-disease
#14
Sara J Holditch, Claire A Schreiber, Peter C Harris, Nicholas F LaRusso, Marina Ramirez-Alvarado, Alessandro Cataliotti, Vicente E Torres, Yasuhiro Ikeda
Polycystic kidney disease (PKD) involves progressive hepatorenal cyst expansion and fibrosis, frequently leading to end-stage renal disease. Increased vasopressin and cAMP signaling, dysregulated calcium homeostasis, and hypertension play major roles in PKD progression. The guanylyl cyclase A agonist, B-type natriuretic peptide (BNP), stimulates cGMP and shows anti-fibrotic, anti-hypertensive, and vasopressin-suppressive effects, potentially counteracting PKD pathogenesis. Here, we assessed the impacts of guanylyl cyclase A activation on PKD progression in a rat model of PKD...
September 2017: Kidney International
https://www.readbyqxmd.com/read/28332304/sclerosing-polycystic-adenosis-a-rare-tumor-misdiagnosed-as-retention-cyst-on-fine-needle-aspiration-cytology
#15
Shilpi, Fuzail Ahmad Ansari, Shalini Bahadur, Akshi Katyal, Aastha Narula, Namrata Nargotra, Sompal Singh
Sclerosing polycystic adenosis (SPA) is a rare benign neoplasm of the salivary gland which resembles the fibrocystic disease of the breast clinically as well as morphologically. This entity has varied morphological presentation on fine needle aspiration. Only a few case reports and occasional case series are found in the literature describing its cytology. Here we are presenting a case of SPA in the parotid gland in a 13-year-old male patient who presented with a slow growing infra-auricular mass since one year without any other symptoms...
July 2017: Diagnostic Cytopathology
https://www.readbyqxmd.com/read/28327449/integrated-local-binary-pattern-texture-features-for-classification-of-breast-tissue-imaged-by-optical-coherence-microscopy
#16
Sunhua Wan, Hsiang-Chieh Lee, Xiaolei Huang, Ting Xu, Tao Xu, Xianxu Zeng, Zhan Zhang, Yuri Sheikine, James L Connolly, James G Fujimoto, Chao Zhou
This paper proposes a texture analysis technique that can effectively classify different types of human breast tissue imaged by Optical Coherence Microscopy (OCM). OCM is an emerging imaging modality for rapid tissue screening and has the potential to provide high resolution microscopic images that approach those of histology. OCM images, acquired without tissue staining, however, pose unique challenges to image analysis and pattern classification. We examined multiple types of texture features and found Local Binary Pattern (LBP) features to perform better in classifying tissues imaged by OCM...
May 2017: Medical Image Analysis
https://www.readbyqxmd.com/read/28208987/bcl6-mrna-expression-level-in-invasive-duct-carcinoma-not-otherwise-specified
#17
Eman Badr, Eman Masoud, Asmaa Gaber Abdou, Marwa Serag Eldien
INTRODUCTION: B-Cell Lymphoma 6 (BCL6) has an oncogenic role in tumourigenesis of various malignancies. It represses genes involved in terminal differentiation and plays complementary role with Signal Transducer and Activator of Transcription 3 (STAT3) in triple-negative breast cancer cellular function. AIM: To evaluate the expression of BCL6 in cancer breast and determine its correlation with the clinico-pathological features including the molecular subtype of breast carcinoma...
December 2016: Journal of Clinical and Diagnostic Research: JCDR
https://www.readbyqxmd.com/read/28151755/renal-cystic-disease-and-associated-ciliopathies
#18
Karl O Kagan, Andreas Dufke, Ulrich Gembruch
PURPOSE OF REVIEW: To review disorders that are associated with renal cystic disease during prenatal life and to highlight the strong association between renal cystic disease and ciliopathies. RECENT FINDINGS: There are numerous causative genes for ciliopathies that can present with cystic kidney disease. In the group of single gene ciliopathies, autosomal dominant polycystic kidney disease is by far the most prevalent one. Other examples are autosomal recessive polycystic kidney disease, nephronophthisis, Bardet-Biedl syndrome, Meckel-Gruber syndrome, Joubert syndrome and related disorders as well as X-linked orofaciodigital syndrome type 1, respectively...
April 2017: Current Opinion in Obstetrics & Gynecology
https://www.readbyqxmd.com/read/28134399/-nephrolithiasis-associated-with-normocalcemic-or-hypercalcemic-primary-hyperparathyroidism-focus-on-calciomimetics
#19
REVIEW
Simone Brardi, Roberto Ponchietti, Ennio Duranti
Primary hyperparathyroidism (PHPT) is a disease involving a broad range of alterations of calcium homeostasis, sustained by parathyroid hormone (PTH) levels that are clearly abnormal. The anomalies directly associated with hyperparathyroidism are nephrolithiasis and fibrocystic bone disease. Since PHPT resolves when abnormal parathyroid tissue is removed, surgery is clearly the only definitive approach to this type of hyperparathyroidism. However there are large subgroups of patients for whom medical therapy should be considered instead of surgery...
November 2016: Giornale Italiano di Nefrologia: Organo Ufficiale Della Società Italiana di Nefrologia
https://www.readbyqxmd.com/read/28076684/radiographic-differentiation-of-advanced-fibrocystic-lung-diseases
#20
Masanori Akira
The concept of end-stage lung disease suggests a final common pathway for most diffuse parenchymal lung diseases. In accordance with this concept, end-stage disease is characterized radiographically and pathologically by the presence of extensive honeycombing. However, sequential computed tomographic (CT) scans obtained from patients with chronic diffuse lung disease evolve over time to show various advanced lung disease patterns other than honeycombing. In addition, several radiographically distinct honeycomb patterns, including microcystic, macrocystic, mixed, and combined emphysema and honeycombing, differentiate one advanced lung disease from another...
March 2017: Annals of the American Thoracic Society
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