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https://www.readbyqxmd.com/read/29786701/lutembacher-syndrome-with-mitral-valve-calcification-in-a-31-year-old-male
#1
Arsalan Majeed Adam, Ansab Godil, Muhammad Saad Ali Mallick, Fahad Khan, Ather Hasan Rizvi, Inam-Ul-Haq Muhammad Makhdoom
Lutembacher syndrome is characterized by a congenital ostium secundum atrial septal defect and an acquired mitral valve stenosis. We present a similar case in a 31-year old male who came in with orthopnoea, central cyanosis and pedal oedema. Examination revealed cardiac murmurs in tricuspid and apical regions. Chest x-ray showed signs of pulmonary congestion and ventricular enlargement. Electrocardiogaphy (ECG) revealed right axis deviation and right bundle branch block along with atrial fibrillation and Transthoracic Echocardiography (TTE) showed abnormal valves (mitral stenosis with calcification and tricuspid regurgitation) and dilated cardiac chambers...
February 2018: JPMA. the Journal of the Pakistan Medical Association
https://www.readbyqxmd.com/read/29747617/pheochromocytoma-as-a-rare-cause-of-hypertension-in-a-46-x-i-x-q10-turner-syndrome-a-case-report-and-literature-review
#2
Ji Yeon Shin, Bo Hyun Kim, Young Keum Kim, Tae Hwa Kim, Eun Heui Kim, Min Jin Lee, Jong Ho Kim, Yun Kyung Jeon, Sang Soo Kim, In Joo Kim
BACKGROUND: Cardiovascular disease (CVD) presents the most serious health problems and contributes to the increased mortality in young women with Turner syndrome. Arterial hypertension in Turner syndrome patients is significantly more prevalent than that in a general age-matched control group. The aetiology of hypertension in Turner syndrome varies, even in the absence of cardiac anomalies and obvious structural renal abnormalities. Pheochromocytoma is an extremely rare cause among various etiologies for hypertension in patients with Turner syndrome...
May 10, 2018: BMC Endocrine Disorders
https://www.readbyqxmd.com/read/29747324/-prognostic-value-of-myeloperoxidase-concentration-in-patients-with-acute-coronary-syndrome
#3
S C Liu, T C Yi, H Y Weng, L Zhang, Y X Li, Momin Mohetaboer, Y Zhang, J Jiang, J P Li, Y Huo
Objective: To evaluate the difference of plasma myeloperoxidase (MPO) level in different types of acute coronary syndrome (ACS) patients, and the value of baseline MPO level in predicting short-term and long-term outcomes in patients with ACS. Methods: The study cohort was derived from "the 12th Five-Year" National Science and Technology Support Program Project "Study on Comprehensive Intervention and Prognosis of Acute Coronary Syndrome" . We enrolled all hospitalized ACS patients who were enrolled in "the 12th Five-Year" cohort from January 1, 2011 to December 31, 2013...
April 24, 2018: Zhonghua Xin Xue Guan Bing za Zhi
https://www.readbyqxmd.com/read/29747295/-a-case-report-of-sj%C3%A3-gren-syndrome-combined-with-cardiac-amyloidosis
#4
Y F Wu, Y L Zhu, X W Yan
No abstract text is available yet for this article.
May 1, 2018: Zhonghua Nei Ke za Zhi [Chinese Journal of Internal Medicine]
https://www.readbyqxmd.com/read/29734195/tenascin-x-congenital-adrenal-hyperplasia-and-the-cah-x-syndrome
#5
Walter L Miller, Deborah P Merke
Mutations of the CYP21A2 gene encoding adrenal 21-hydroxylase cause congenital adrenal hyperplasia (CAH). The CYP21A2 gene is partially overlapped by the TNXB gene, which encodes an extracellular matrix protein called Tenascin-X (TNX). Mutations affecting both alleles of TNXB cause a severe, autosomal recessive form of Ehlers-Danlos syndrome (EDS). Rarely, patients with severe, salt-wasting CAH have deletions of CYP21A2 that extend into TNXB, resulting in a "contiguous gene syndrome" consisting of CAH and EDS...
May 7, 2018: Hormone Research in Pædiatrics
https://www.readbyqxmd.com/read/29722868/long-term-outcome-of-patients-suffering-from-cancer-and-takotsubo-syndrome-or-myocardial-infarction
#6
K Sattler, I El-Battrawy, T Gietzen, S Lang, X Zhou, M Borggrefe, I Akin
Background: The pathophysiology of takotsubo syndrome (TTS) is unclear so far. There is strong association of the occurrence of TTS and malignant diseases. An association between malignant diseases and myocardial infarction (MI) was found recently and ascribed to common molecular and lifestyle mechanisms. In the current study, we compared the outcome of patients with MI or TTS and malignant diseases in a matched cohort. Methods: Patients with TTS or with MI (n = 138 per group) were matched for age and sex and assessed retrospectively and prospectively...
May 2, 2018: QJM: Monthly Journal of the Association of Physicians
https://www.readbyqxmd.com/read/29715123/takotsubo-cardiomyopathy-developed-after-two-stage-surgery-for-double-primary-lung-cancer
#7
Fumihiko Kinoshita, Gouji Toyokawa, Tetsuzo Tagawa, Taichi Matsubara, Yuka Kozuma, Naoki Haratake, Shinkichi Takamori, Takaki Akamine, Fumihiko Hirai, Yoshihiko Maehara
Takotsubo cardiomyopathy (TC) is a syndrome characterized by transient local systolic dysfunction of the left ventricle with no evidence of coronary artery disease or acute plaque rupture. We present the case of 71-year-old woman who developed TC after two-stage surgery for double primary lung cancer. On computed tomography, lung nodules were identified in the left upper and right middle lobes. Based on the diagnosis of double primary lung cancer, we performed two-stage surgery (left upper lobectomy followed by right middle lobectomy)...
May 2018: Anticancer Research
https://www.readbyqxmd.com/read/29671225/effectiveness-of-early-hematopoietic-stem-cell-transplantation-in-preventing-neurocognitive-decline-in-mucopolysaccharidosis-type-ii-a-case-series
#8
A Selvanathan, C Ellaway, C Wilson, P Owens, P J Shaw, K Bhattacharya
The early progressive form of the X-linked disorder, Hunter syndrome or mucopolysaccharidosis type II (MPS II) (OMIM #309900), is characterized by cognitive decline, and pulmonary and cardiac complications that often cause death before 20 years of age. Deficiency of the lysosomal enzyme, iduronate-2-sulfatase (EC 3.1.6.13) results in deposition of the glycosaminoglycans, dermatan, and heparan sulfate in various tissues. In recent years, enzyme replacement therapy (ERT) has become the mainstay of treatment, but is expensive and ineffective in arresting cognitive decline...
April 19, 2018: JIMD Reports
https://www.readbyqxmd.com/read/29657083/the-course-of-awake-breathing-disturbances-across-the-lifespan-in-rett-syndrome
#9
Daniel C Tarquinio, Wei Hou, Jeffrey L Neul, Gamze Kilic Berkmen, Jana Drummond, Elizabeth Aronoff, Jennifer Harris, Jane B Lane, Walter E Kaufmann, Kathleen J Motil, Daniel G Glaze, Steven A Skinner, Alan K Percy
Rett syndrome (RTT), an X-linked dominant neurodevelopmental disorder caused by mutations in MECP2, is associated with a peculiar breathing disturbance exclusively during wakefulness that is distressing, and can even prompt emergency resuscitation. Through the RTT Natural History Study, we characterized cross sectional and longitudinal characteristics of awake breathing abnormalities in RTT and identified associated clinical features. Participants were recruited from 2006 to 2015, and cumulative lifetime prevalence of breathing dysfunction was determined using the Kaplan-Meier estimator...
April 12, 2018: Brain & Development
https://www.readbyqxmd.com/read/29614572/-four-cases-of-acute-respiratory-distress-syndrome-patients-transported-with-veno-venous-extracorporeal-membrane-oxygenation
#10
Z Zhao, X Y Hong, Y Y Liu, X J Zhang, L S Bao, H T Gao, X H Liu, Z C Feng
Objective: To retrospectively review 4 cases diagnosed with pediatric acute respiratory distress syndrome (ARDS) who were transported with veno-venous (V-V) extracorporeal membrane oxygenation (ECMO) from April 2016 to March 2017. Methods: Four patients were transported to Bayi Children's Hospital Afflicted to the PLA Army General Hospital, with V-V ECMO. Their vital signs, blood-gas analysis and chest X-ray before and after transportation were compared. The length of ECMO, pediatric intensive care unit (PICU) stay and hospitalization, and the prognosis were analyzed...
April 2, 2018: Zhonghua Er Ke za Zhi. Chinese Journal of Pediatrics
https://www.readbyqxmd.com/read/29609227/-characteristics-and-prognosis-of-interrupted-inferior-vena-cava-with-azygous-continuation
#11
Q Xu, H X Sun, J S Xie, J L Wang, Q Y Pei, X H Zhang
Objective: To explore the clinical characteristics of interrupted of the inferior vena cava with azygous continuation and the prognosis. Methods: Retrospective analysis of 21 fetuses diagnosed with interrupted inferior vena cava with azygous continuation among 28 567 pregnant women who underwent routine ultrasound scan. The clinical data, ultrasonographic features, genetic information and prognosis were collected. Results: Interrupted of the inferior vena cava with azygous continuation occurred in 21(0.07%, 21/28 567) of 28 567 patients...
March 25, 2018: Zhonghua Fu Chan Ke za Zhi
https://www.readbyqxmd.com/read/29577004/staged-surgical-palliation-for-hlhs-in-a-girl-with-severe-factor-x-deficiency
#12
Ahmed F Elmahrouk, Mohamed F Ismail, Abdulbadee Bugis, Nashwa Badawy, Hesham Mohamed Aboelghar, Tamer Hamouda, Ahmed Jamjoom
Background  Factor X deficiency (also known as Stuart-Prower factor deficiency) is an autosomal recessive extremely rare hereditary hematologic disorder, affecting around 1:1,000,000 of the general population. Case Presentation  This case report describes a patient with hypoplastic left heart syndrome and severe factor X deficiency, who underwent staged surgical palliation. From stage 1 Norwood palliation, through superior cavopulmonary anastomosis and ending with total cavopulmonary connection with satisfactory hemostasis and no significant perioperative bleeding complication...
January 2018: Thoracic and Cardiovascular Surgeon Reports
https://www.readbyqxmd.com/read/29575627/a-recurrent-mutation-causing-melnick-needles-syndrome-in-females-confers-a-severe-lethal-phenotype-in-males
#13
Careni Spencer, Hendrik Lombaard, Amy Wise, Amanda Krause, Stephen P Robertson
Melnick-Needles syndrome (MNS; MIM 309350) is an X-linked skeletal dysplasia caused by mutations in FLNA. Females with the condition present with characteristic facial features, short stature, skeletal anomalies, including poorly modeled and sclerotic bones, and structural abnormalities such as cardiac and urological defects. Previously males were thought to present with either a mild phenotype compatible with life or a severe lethal presentation depending on the maternal phenotype. The discovery of a limited number of mutations in FLNA as the cause of the condition has clarified the molecular basis of the disorder, but only a very small number of severely affected males have been reported with MNS...
April 2018: American Journal of Medical Genetics. Part A
https://www.readbyqxmd.com/read/29556144/novel-scoring-system-for-prediction-of-cardiac-syndrome-x-in-women-with-typical-angina-and-a-positive-exercise-tolerance-test
#14
Farzad Masoudkabir, Ali Vasheghani-Farahani, Elham Hakki, Hamidreza Poorhosseini, Saeed Sadeghian, Seyed Hesameddin Abbasi, Shahram Bahmanyar, Seyed Ebrahim Kassaian
A major diagnostic challenge for cardiologists is to distinguish cardiac syndrome X (CSX) from obstructive coronary artery disease in women with typical angina and a positive exercise tolerance test (ETT). We performed this study to develop a scoring system that more accurately predicts CSX in this patient population. Data on 976 women with typical angina and a positive ETT who underwent coronary angiography at our center were randomly divided into derivation and validation datasets. We developed a backward stepwise logistic regression model that predicted the presence of CSX, and a scoring system was derived from it...
February 2018: Texas Heart Institute Journal
https://www.readbyqxmd.com/read/29481371/spinal-cord-stimulation-50-years-later-clinical-outcomes-of-spinal-cord-stimulation-based-on-randomized-clinical-trials-a-systematic-review
#15
Nagy Mekhail, Ogi Visnjevac, Gerges Azer, Diana Sue Mehanny, Priya Agrawal, Victor Foorsov
To assess the efficacy of spinal cord stimulation (SCS) for each indication, one must critically assess each specific clinical outcome to identify outcomes that benefit from SCS therapy. To date, a comprehensive review of clinically relevant outcome-specific evidence regarding SCS has not been published. We aimed to assess all randomized controlled trials from the world literature for the purpose of evaluating the clinical outcome-specific efficacy of SCS for the following outcomes: perceived pain relief or change pain score, quality of life, functional status, psychological impact, analgesic medication utilization, patient satisfaction, and health care cost and utilization...
May 2018: Regional Anesthesia and Pain Medicine
https://www.readbyqxmd.com/read/29419347/the-prognosis-of-pulmonary-arterial-hypertension-associated-with-primary-sj%C3%A3-gren-s-syndrome-a-cohort-study
#16
Z Liu, X Yang, Z Tian, J Qian, Q Wang, J Zhao, C Huang, Y Liu, X Guo, H Wang, J Lai, M Li, Y Zhao, X Zeng
Pulmonary arterial hypertension (PAH) is a rare and severe complication of primary Sjögren's syndrome (pSS). Cohort studies indicate that the underlying diseases of PAH associated with connective tissue disease (CTD-PAH) in Asian countries are different from that in the United States and in Europe. This study investigated the clinical characteristics, survival, and prognostic factors of pSS-PAH in Chinese patients. We enrolled 29 patients with pSS-PAH who visited our referral center during August 2007 and May 2015...
June 2018: Lupus
https://www.readbyqxmd.com/read/29390414/prenatal-diagnosis-of-joubert-syndrome-a-case-report-and-literature-review
#17
Lingling Zhu, Limei Xie
INTRODUCTION: Joubert syndrome (JS) is a rare autosomal recessive inherited disease belonging to ciliopathy with the causative mutation of genes. Except for X-linked inheritance, the high recurrence rate of a family is about 25%. After birth, it may cause a series of neurological symptoms, even with retina, kidney, liver, and other organ abnormalities, which is defined as Joubert syndrome and related disorders (JSRD). Molecular genetics research contributes to disease prediction and genetic counseling...
December 2017: Medicine (Baltimore)
https://www.readbyqxmd.com/read/29361487/novel-approach-for-in-vivo-detection-of-vulnerable-coronary-plaques-using-molecular-3-t-cmr-imaging-with-an-albumin-binding-probe
#18
Leif-Christopher Engel, Ulf Landmesser, Kevin Gigengack, Thomas Wurster, Constantina Manes, Georg Girke, Milosz Jaguszewski, Carsten Skurk, David M Leistner, Alexander Lauten, Andreas Schuster, Bernd Hamm, Rene M Botnar, Marcus R Makowski, Boris Bigalke
OBJECTIVES: This study sought to investigate the potential of the noninvasive albumin-binding probe gadofosveset-enhanced cardiac magnetic resonance (GE-CMR) for detection of coronary plaques that can cause acute coronary syndromes (ACS). BACKGROUND: ACS are frequently caused by rupture or erosion of coronary plaques that initially do not cause hemodynamically significant stenosis and are therefore not detected by invasive x-ray coronary angiography (XCA). METHODS: A total of 25 patients with ACS or symptoms of stable coronary artery disease underwent GE-CMR, clinically indicated XCA, and optical coherence tomography (OCT) within 24 h...
January 12, 2018: JACC. Cardiovascular Imaging
https://www.readbyqxmd.com/read/29344338/current-best-practice-in-the-management-of-turner-syndrome
#19
REVIEW
Roopa Kanakatti Shankar, Philippe F Backeljauw
Turner syndrome (TS) is characterized by partial or complete loss of the second X-chromosome in phenotypic females resulting in a constellation of clinical findings that may include lymphedema, cardiac anomalies, short stature, primary ovarian failure and neurocognitive difficulties. Optimizing health care delivery is important to enable these individuals achieve their full potential. We review the current best practice management recommendations for individuals with TS focusing on the latest consensus opinion in regard to genetic diagnosis, treatment of short stature, estrogen supplementation, addressing psychosocial issues, as well screening for other comorbidities...
January 2018: Therapeutic Advances in Endocrinology and Metabolism
https://www.readbyqxmd.com/read/29326130/inward-rectifier-potassium-channels-kir2-x-and-caveolin-3-domain-specific-interaction-implications-for-purkinje-cell-dependent-ventricular-arrhythmias
#20
Ravi Vaidyanathan, Hanora Van Ert, Kazi T Haq, Stefano Morotti, Samuel Esch, Elise C McCune, Eleonora Grandi, Lee L Eckhardt
BACKGROUND: In human cardiac ventricle, I K1 is mainly comprised Kir2.1, but Kir2.2 and Kir2.3 heterotetramers occur and modulate I K1 . Long-QT syndrome-9-associated CAV3 mutations cause decreased Kir2.1 current density, but Kir2.x heterotetramers have not been studied. Here, we determine the effect of long-QT syndrome-9- CAV3 mutation F97C on Kir2.x homo- and heterotetramers and model-associated arrhythmia mechanisms. METHODS AND RESULTS: Super-resolution microscopy, co-immunoprecipitation, cellular electrophysiology, on-cell Western blotting, and simulation of Purkinje and ventricular myocyte mathematical models were used...
January 2018: Circulation. Arrhythmia and Electrophysiology
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