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https://www.readbyqxmd.com/read/28543917/a-novel-pgm3-mutation-is-associated-with-a-severe-phenotype-of-bone-marrow-failure-severe-combined-immunodeficiency-skeletal-dysplasia-and-congenital-malformations
#1
Guillermo Pacheco-Cuéllar, Julie Gauthier, Valérie Désilets, Christian Lachance, Marlène Lemire-Girard, Françoise Rypens, Françoise Le Deist, Hélène Decaluwe, Michel Duval, Dorothée Bauron Dal Soglio, Victor Kokta, Élie Haddad, Philippe M Campeau
Congenital disorders of glycosylation (CDGs) affect multiple systems and present a broad spectrum of clinical features, often including skeletal dysplasia and exome sequencing has led to the identification of new CDG genes . Immune and skeletal phenotypes associated with mutations in PGM3, encoding a protein which converts N-acetyl-glucosamine-6-phosphate into N-acetyl-glucosamine-1-phosphate, were recently reported. Through exome sequencing, we identified a novel homozygous mutation (c.1219T > C; p...
May 22, 2017: Journal of Bone and Mineral Research: the Official Journal of the American Society for Bone and Mineral Research
https://www.readbyqxmd.com/read/28541267/choroidal-melanoma-sector-melanocytosis-and-retinal-pigment-epithelial-microdetachments-in-birt-hogg-dub%C3%A3-syndrome
#2
Charlotte L Marous, Molly R Marous, R Joel Welch, Jerry A Shields, Carol L Shields
PURPOSE: Birt-Hogg-Dubé Syndrome (BHDS) is a rare autosomal dominant condition that can predispose patients to numerous cutaneous fibrofolliculomas and other cutaneous lesions, pulmonary cysts with spontaneous pneumothorax, and multifocal renal tumors and cancer. The genetic mutations responsible for BHDS are related to tumor suppression and the mammalian target of rapamycin (mTOR) pathway. Previous reports of the ocular findings in BHDS include eyelid fibrofolliculomas, "flecked chorioretinopathy," and one report of choroidal melanoma...
May 22, 2017: Retinal Cases & Brief Reports
https://www.readbyqxmd.com/read/28539984/birt-hogg-dub%C3%A3-syndrome-report-of-two-cases-with-two-new-mutations
#3
Margarida Rato, Ana Filipe Monteiro, Joana Parente, João Aranha, Ermelindo Tavares
INTRODUCTION: Birt-Hogg-Dubé syndrome (BHDS) is a rare autosomal dominant genodermatosis characterized by cutaneous fibrofolliculomas and/or trichodiscomas, lung cysts, spontaneous pneumothorax and renal tumors. However, its clinical expression is highly variable. This syndrome is caused by germline mutations in the folliculin gene (FLCN) on chromosome 17p11.2. MAIN OBSERVATIONS: Two men, 60 and 39-year-old, presented with a several year history of asymptomatic whitish papules scattered over the face and neck...
March 31, 2017: Journal of Dermatological Case Reports
https://www.readbyqxmd.com/read/28538623/impact-of-a-novel-pi3-kinase-inhibitor-in-preventing-mitochondrial-dna-damage-and-damage-associated-molecular-pattern-accumulation-results-from-the-biochronicity-project
#4
George E Black, Kyle K Sokol, Donald M Moe, Jon Simmons, David Muscat, Victor Pastukh, Gina Capley, Olena Gorodnya, Mykhalo Ruchko, Mark B Roth, Mark Gillespie, Matthew J Martin
BACKGROUND: Despite improvements in the management of severely injured patients, development of multiple organ dysfunction syndrome (MODS) remains a morbid complication of traumatic shock. One of the key attributes of MODS is a profound bioenergetics crisis, for which the mediators and mechanisms are poorly understood. We hypothesized that metabolic uncoupling using an experimental PI3-kinase inhibitor, LY294002 (LY), may prevent mitochondrial abnormalities that lead to the generation of mitochondrial DNA (mtDNA) damage and the release of mtDNA damage associated molecular patterns (DAMPs) METHODS: 16 swine were studied using LY294002 (LY), a non-selective PI3-KI: Animals were assigned to Trauma only (TO, N=3); LY drug only (LYO, N=3); and Experimental (N=10), trauma + drug (LY+T) groups...
May 22, 2017: Journal of Trauma and Acute Care Surgery
https://www.readbyqxmd.com/read/28536812/maternal-ascites-an-independent-prognostic-factor-in-severe-preeclampsia-a-matched-cohort-study
#5
J Yavana Suriya, Anish Keepanasseril, K Manikandan, Dilip Kumar Maurya, P Veena, S Soundara Raghavan
BACKGROUND: Preeclampsia is a multi-systemic, multi-organ dysfunction associated with increased maternal and perinatal complications. The presence of maternal ascites, a manifestation of endothelial dysfunction and increased capillary permeability, is shown to be associated with adverse outcomes. We aim to investigate the impact of maternal ascites on pregnancy outcome in women with severe preeclampsia. METHODS: A matched cohort study was conducted in a tertiary care teaching hospital in South India between March 2014 and March 2015...
May 23, 2017: Archives of Gynecology and Obstetrics
https://www.readbyqxmd.com/read/28536682/a-case-of-intramural-coronary-amyloidosis-associated-with-hemodialysis
#6
Faisal M Huq Ronny, George Kleinman, Paul James Kurtin, John Thomas Fallon
Dialysis-related amyloidosis predominantly occurs in osteo-articular structures and dialysis-related amyloid (DRA) substances also deposit in extra-articular tissues. Clinical manifestations of DRA include odynophagia, gastrointestinal hemorrhage, intestinal obstruction, kidney stones, myocardial dysfunction, and subcutaneous tumors. The pathological characteristics of DRA in the heart of hemodialysis patients have rarely been reported. We report the case of a 73-year-old female with a history of cerebral palsy and end-stage renal disease status post two failed renal transplants who had been on hemodialysis for 30 years...
January 2017: Autopsy & case reports
https://www.readbyqxmd.com/read/28535630/-analysis-of-risk-factors-and-prognosis-for-bleeding-in-very-old-male-patients-with-stage-5-chronic-kidney-disease
#7
X Shen, Q G Ao, Q L Cheng, S Liu, J H Zhao, Q Ma, G Yang, Y Liu
Objective: To analyze the risk factors and prognosis of bleeding in very old male patients with stage 5 chronic kidney disease (CKD). Methods: The clinical data of 143 very old male patients with stage 5 CKD was retrospectively analyzed. According to the occurrence of bleeding, the patients were divided into two groups including the hemorrhage group and the non-hemorrhage group. The history of diseases, renal function, blood cell parameters and coagulation index were compared and analyzed between the two groups...
May 16, 2017: Zhonghua Yi Xue za Zhi [Chinese medical journal]
https://www.readbyqxmd.com/read/28532425/combined-pulmonary-and-left-ventricular-support-with-veno-pulmonary-ecmo-and-impella-5-0-for-cardiogenic-shock-after-coronary-surgery
#8
Sameh Sayed, Christoph Schimmer, Ina Shade, Rainer Leyh, Ivan Aleksic
BACKGROUND: Mechanical circulatory support is a common practice nowadays in the management of patients after cardiogenic shock due to myocardial infarction. The single or combined use of one or more devices for mechanical support depends not only on the advantage or disadvantage of these devices but also on the timing of use of these devices before the development of multi organ failure. In our case we used more than one tool for mechanical circulatory support during the prolonged and complicated course of our patient with postcardiotomy cardiogenic shock after coronary artery bypass surgery...
May 22, 2017: Journal of Cardiothoracic Surgery
https://www.readbyqxmd.com/read/28530332/-treatment-of-mechanically-ventilated-patients-in-an-internal-medicine-department-overview-2013
#9
Jacov Kogan, Alex Rodnitsky, Ornit Cohen, Svetlana Turkot, Yevgenia Tziba, Boris Golzman
BACKGROUND: Over recent years the number of mechanically ventilated patients in internal medicine departments has grown. These patients are elderly, mostly disabled and suffer from many chronic illnesses. Most of them require prolonged mechanical ventilation. OBJECTIVES: The study aimed to evaluate the population of mechanically ventilated patients in an internal department, the treatment and outcomes, particularly the morbidity in hospitalization and to identify the prognostic causes of death...
August 2016: Harefuah
https://www.readbyqxmd.com/read/28527249/-sociodemographic-and-clinical-characteristics-of-patients-infected-with-leptospira-spp-treated-at-four-hospitals-in-medell%C3%A3-n-colombia-2008-2013
#10
Lina María Echeverri-Toro, Sara Penagos, Laura Castañeda, Pablo Villa, Santiago Atehortúa, Faiver Ramírez, Carlos Restrepo, Sigifredo Ospina, Yuli Agudelo, Alicia Hidrón, Paola Agudelo, Eliana Valderrama, Carlos Andrés Agudelo
INTRODUCTION: Leptospirosis remains a significant health problem in tropical regions including Latin America, where its presentation is 100 times higher than that observed in other regions of the world. Mortality reaches 10% in severe cases. Its diagnosis is challenging because clinical manifestations during the initial phase are non-specific and because of limited availability of diagnostic tests. OBJECTIVE: To describe the demographic and clinical characteristics and the outcomes in hospitalized patients with leptospirosis...
January 24, 2017: Biomédica: Revista del Instituto Nacional de Salud
https://www.readbyqxmd.com/read/28526333/systemic-manifestations-of-primary-sj%C3%A3-gren-s-syndrome-in-the-nod-b10sn-h2-b-j-mouse-model
#11
Jeremy Kiripolsky, Long Shen, Yichen Liang, Alisa Li, Lakshmanan Suresh, Yun Lian, Quan-Zhen Li, Daniel P Gaile, Jill M Kramer
Animal models that recapitulate human disease are crucial for the study of Sjögren's Syndrome (SS). While several SS mouse models exist, there are few primary SS (pSS) models that mimic systemic disease manifestations seen in humans. Similar to pSS patients, NOD.B10Sn-H2(b)/J (NOD.B10) mice develop exocrine gland disease and anti-nuclear autoantibodies. However, the disease kinetics and spectrum of extra-glandular disease remain poorly characterized in this model. Our objective was to characterize local and systemic SS manifestations in depth in NOD...
May 16, 2017: Clinical Immunology: the Official Journal of the Clinical Immunology Society
https://www.readbyqxmd.com/read/28525455/18f-fdg-pet-ct-of-malignant-angiomyolipoma-with-tumor-thrombus
#12
Andrew Griffin
Renal angiomyolipomas are the most common renal mesenchymal tumors. While classic angiomyolipomas are benign, there are a number of other subtypes. Epithelioid variants are potentially malignant and may be indistinguishable from renal cell carcinoma on imaging. We present a 52-year-old woman who underwent left nephrectomy for an aggressive-appearing malignant renal epithelioid angiomyolipoma. At 6 months postoperatively, restaging FDG PET/CT demonstrated a hypermetabolic left adrenal mass extending to the left adrenal vein, left renal vein, inferior vena cava, and right atrium (SUVmax = 12)...
May 19, 2017: Clinical Nuclear Medicine
https://www.readbyqxmd.com/read/28523031/myocardial-protection-with-glucose-insulin-potassium-infusion-during-adult-cardiac-surgery
#13
Suhail Ahmad, Rana Altaf Ahmad, Bilal Ahsan Qureshi, Mirza Ahmad Raza Baig
BACKGROUND & OBJECTIVE: Recent meta-analysis reports have called for more randomized trials to evaluate the effectiveness of GIK solution in patients of cardiac surgery. So this study was conducted to evaluate the effectiveness of Glucose-insulin-potassium (GIK) solutions in non-diabetic patients undergoing coronary artery bypass grafting. METHODS: A total number of one hundred and sixty (160) patients were randomized into two equal groups; GIK Group and non-GIK group...
March 2017: Pakistan Journal of Medical Sciences Quarterly
https://www.readbyqxmd.com/read/28522072/cardiovascular-magnetic-resonance-in-systemic-sclerosis-pearls-and-pitfalls
#14
REVIEW
Sophie I Mavrogeni, Juerg Schwitter, Luna Gargani, Alessia Pepe, Lorenzo Monti, Yannick Allanore, Marco Matucci-Cerinic
Systemic sclerosis (SSc) is an autoimmune disease characterized by vascular dysfunction and excessive fibrosis, involving internal organs including the heart. The estimated prevalence of cardiac involvement in SSc is high and remains subclinical until the late stages. It is either primary, related to myocardial inflammation and fibrosis, or secondary, due to pulmonary arterial hypertension (SSc-PAH) or systemic hypertension, in those patients with renal involvement. Cardiovascular magnetic resonance (CMR) is a useful tool for the early assessment of cardiac involvement in SSc...
March 31, 2017: Seminars in Arthritis and Rheumatism
https://www.readbyqxmd.com/read/28515908/renal-manifestations-of-primary-mitochondrial-disorders
#15
Josef Finsterer, Fulvio Scorza
The aim of the present review was to summarize and discuss previous findings concerning renal manifestations of primary mitochondrial disorders (MIDs). A literature review was performed using frequently used databases. The study identified that primary MIDs frequently present as mitochondrial multiorgan disorder syndrome (MIMODS) at onset or in the later course of the MID. Occasionally, the kidneys are affected in MIDs. Renal manifestations of MIDs include renal insufficiency, nephrolithiasis, nephrotic syndrome, renal cysts, renal tubular acidosis, Bartter-like syndrome, Fanconi syndrome, focal segmental glomerulosclerosis, tubulointerstitial nephritis, nephrocalcinosis, and benign or malign neoplasms...
May 2017: Biomedical Reports
https://www.readbyqxmd.com/read/28513838/the-emerging-role-of-npnt-in-tissue-injury-repair-and-bone-homeostasis
#16
REVIEW
Youqiang Sun, Vincent Kuek, Heng Qiu, Jennifer Tickner, Leilei Chen, Haibin Wang, Wei He, Jiake Xu
Nephronectin (NPNT), a highly conserved extracellular matrix protein, plays an important role in regulating cell adhesion, differentiation, spreading and survival. NPNT protein belongs to epidermal growth factor (EGF)-like superfamily and exhibits several common structural determinants; including EGF-like repeat domains, MAM domain (Meprin, A5 Protein, and Receptor Protein-Tyrosine Phosphatase µ), RGD motif (Arg-Gly-Asp) and a coiled-coil domain. It regulates integrins-mediated signaling pathways via the interaction of its RGD motif with integrin α8β1...
May 17, 2017: Journal of Cellular Physiology
https://www.readbyqxmd.com/read/28509429/chronic-kidney-disease-a-likely-underestimated-component-of-multimorbidity-in-older-patients-with-chronic-obstructive-pulmonary-disease
#17
REVIEW
Andrea Corsonello, Filippo Aucella, Claudio Pedone, Raffaele Antonelli-Incalzi
The coexistence of chronic kidney disease and chronic obstructive pulmonary disease, two age-related conditions, has important clinical and prognostic implications. Respiratory failure is associated with important changes in glomerular and tubulointerstitial function. In contrast, renal failure can affect lung function, mainly by adding a restrictive component or causing complications, such as uremic pulmonary edema and pleural effusion. The effect of age on renal and pulmonary function adds to the complexity of the interplay between the kidney and the lung in these patients...
May 16, 2017: Geriatrics & Gerontology International
https://www.readbyqxmd.com/read/28509130/acute-pulmonary-thromboembolism-occurring-during-treatment-with-tolvaptan-in-a-patient-with-autosomal-dominant-polycystic-kidney-disease
#18
Katsuhiko Morimoto, Yasuhiro Akai, Masaru Matsui, Hiroki Yano, Miho Tagawa, Ken-Ichi Samejima, Yoshihiko Saito
Autosomal-dominant polycystic kidney disease (ADPKD) is the most prevalent cystic kidney disease, with approximately half of the patients reaching end-stage renal disease by the age of 60. Tolvaptan prevents renal cyst growth by inhibiting intracellular cyclic AMP and is recommended for patients with ADPKD. Reports of thrombotic complications with tolvaptan have been limited. We report a case of a 60-year-old man who developed thromboembolisms during tolvaptan treatment for ADPKD. The patient started tolvaptan in July 2014...
May 2017: CEN Case Reports
https://www.readbyqxmd.com/read/28509125/a-case-of-pr3-anca-positive-anti-gbm-disease-associated-with-intrarenal-arteritis-and-thrombotic-microangiopathy
#19
Shun Manabe, Mayuko Banno, Marie Nakano, Teruhiro Fujii, Yukio Kakuta, Kosaku Nitta, Michiyasu Hatano
Coexistence of anti-glomerular basement membrane (anti-GBM) disease with anti-neutrophil cytoplasmic antibody (ANCA) is occasionally reported and termed "double positive" disease. Interestingly, the majority of "double positive" ANCA is myeloperoxidase (MPO)-ANCA, and some of the MPO-ANCA-positive cases reveal intrarenal arteritis indicating an ANCA-associated renal lesion. In contrast, proteinase 3 (PR3)-ANCA-positive "double positive" disease had rarely been reported, and as far as we know, none of the cases showed intrarenal arteritis...
May 2017: CEN Case Reports
https://www.readbyqxmd.com/read/28508096/-off-label-biologic-therapy-of-anca-associated-and-non-anca-associated-small-vessel-vasculitis-efficacy-and-safety-analysis-of-a-national-registry-graid2
#20
N Venhoff, F Proft, H Schulze-Koops, J Holle, R E Voll, C Iking-Konert, A M Jacobi, J Henes, L Unger, O Kneitz, T Dörner, J Thiel
OBJECTIVE: To evaluate the clinical efficacy and safety of off-label biological therapies in patients with ANCA-associated vasculitis (AAV) and non-ANCA-associated small-vessel vasculitis (nAAV) in clinical practice. METHODS: The German Registry in Autoimmune Diseases 2 (GRAID2) is a national, retrospective, non-interventional, multicentre observational study (August 2006 until December 2013) on patients with autoimmune diseases refractory to standard immunosuppressive therapy treated with off-label biologicals...
May 15, 2017: Zeitschrift Für Rheumatologie
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