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https://www.readbyqxmd.com/read/28920815/preliminary-characterization-of-dilated-cardiomyopathy-in-a-captive-population-of-banded-mongooses-mungos-mungo
#1
Javier López, Joanna Dukes-McEwan, Gabby Drake, Julian Chantrey
Between 2006 and 2015, a high incidence of dilated cardiomyopathy (DCM) was diagnosed in a captive population of banded mongooses (Mungos mungo) at Chester Zoo, United Kingdom. The aim of this study was to characterize DCM in these mongooses in order to raise awareness of this condition and help inform management and clinical decisions. Prospective clinical assessments, including echocardiography, radiography, and cardiac biomarkers, were carried out in four mongooses remaining in the collection. Radiographs from 15 mature mongooses were reviewed and cardiac size and metrics assessed...
September 2017: Journal of Zoo and Wildlife Medicine: Official Publication of the American Association of Zoo Veterinarians
https://www.readbyqxmd.com/read/28919627/ebstein-s-anomaly-associated-with-atrial-septal-defect-and-wolff-parkinson-white-wpw-syndrome
#2
M N Hasan, K Ahmed, S M Ahmed, M M Rahman
Ebstein's anomaly is a rare congenital heart disorder, accounting for <1% of all cases of congenital heart disease. It is a congenital malformation of the heart that is characterized by apical displacement of the septal and posterior tricuspid valve leaflets, leading to atrialization of the right ventricle with a variable degree of malformation and displacement of the anterior leaflet. We report the case of a 25 years old female with Ebstein's anomaly which was associated with Ostium Secundum type of atrial septal defect and WPW syndrome, who presented with dyspnea, palpitations, cyanosis, clubbing and cardiomegaly...
July 2017: Mymensingh Medical Journal: MMJ
https://www.readbyqxmd.com/read/28904726/radiographic-determination-of-cardiomegaly-using-cardiothoracic-ratio-and-transverse-cardiac-diameter-can-one-size-fit-all-part-one
#3
Edmund Kwadwo Kwakye Brakohiapa, Benard Ohene Botwe, Benjamin Dabo Sarkodie, Eric Kwesi Ofori, Jerry Coleman
INTRODUCTION: The cardio-thoracic ratio (CTR) and the transverse cardiac diameter (TCD) on Plain chest radiography are the two parameters commonly used to diagnose cardiomegaly and heart disease. A CTR of greater than 50% on a PA film is abnormal and normally indicates cardiac or pericardial disease condition, whiles an increase of TCD from 1.5 to 2cm on two consecutive radiographs, taken at short interval, suggests possible cardiac pathology. The aim was to determine the suitability of using the same TCD and CTR to detect cardiomegaly for all age groups and genders respectively...
2017: Pan African Medical Journal
https://www.readbyqxmd.com/read/28868014/first-line-treatment-with-carboplatin-plus-nab-paclitaxel-and-maintenance-monotherapy-with-nab-paclitaxel-for-a-thymic-carcinoma-a-case-report
#4
Kunihiko Funaishi, Masahiro Yamasaki, Naomi Saito, Wakako Daido, Sayaka Ishiyama, Naoko Deguchi, Masaya Taniwaki, Nobuyuki Ohashi
Thymic carcinomas are rare malignant tumors, located in the anterior mediastinum. For the treatment of these carcinomas, several chemotherapy regimens have been suggested, including carboplatin plus paclitaxel. However, because of the rarity of these tumors, the standard chemotherapy regimen has not yet been established. Here, we report a case of thymic carcinoma that responded to first-line carboplatin plus nanoparticle albumin-bound paclitaxel (nab-paclitaxel) therapy with continuation maintenance nab-paclitaxel monotherapy...
May 2017: Case Reports in Oncology
https://www.readbyqxmd.com/read/28863206/periorbital-ecchymoses-and-breathlessness
#5
Sudip Kumar Ghosh, Biswajit Majumder, Sandip Ghosh, Dilip Kumar Das, Sharmistha Chatterjee
A 54-year-old man presented at our facility with a 3-month history of exertional breathlessness and purple blotches around his eyes. Examination revealed bilateral periorbital and perioral ecchymosis, purpuric spots along his waist, and waxy papules on his eyelids. In addition, the patient had macroglossia with nodular infiltration and irregular indentations at the lateral margin of his tongue. The patient also had a raised jugular venous pressure and prominent atrial and ventricular waves. Further examination revealed a fourth heart sound over the left ventricular apex, as well as bilateral basal rales...
September 2017: Journal of Family Practice
https://www.readbyqxmd.com/read/28842488/conserved-functional-consequences-of-disease-associated-mutations-in-the-slide-helix-of-kir6-1-and-kir6-2-subunits-of-the-atp-sensitive-potassium-channel
#6
Paige E Cooper, Conor McClenaghan, Xingyu Chen, Anna Stary-Weinzinger, Colin G Nichols
Cantu syndrome (CS) is a condition characterized by a range of anatomical defects, including cardiomegaly, hyper-flexibility of the joints, hypertrichosis, and craniofacial dysmorphology. CS is associated with multiple missense mutations in the genes encoding the regulatory SUR2 subunits of the ATP-sensitive K+ (KATP) channel, as well as two mutations (V65M and C176S) in the Kir6.1 (KCNJ8) subunit. Previous analysis of leucine and alanine substitutions at the Val-65 equivalent site (Val-64) in Kir6.2 indicated no major effects on channel function...
August 23, 2017: Journal of Biological Chemistry
https://www.readbyqxmd.com/read/28836540/gingival-fibromatosis-with-hypertrichosis-syndrome-case-series-of-rare-syndrome
#7
Preetha Balaji, S M Balaji
Gingival fibromatosis with hypertrichosis syndrome is an extremely rare genetic condition characterized by profound overgrowth of hair and gums, as well as other variable features. Gingival fibromatosis is characterized by a large increase in the gingival dimension which extends above the dental crowns, covering them partially or completely. They were found to have a genetic origin, may also occur in isolation or be part of a syndrome, or acquired origin, due to specific drugs administered systemically. Congenital generalized hypertrichosis is a heterogeneous group of diseases with continuing excessive growth of terminal hair without androgenic stimulation...
July 2017: Indian Journal of Dental Research: Official Publication of Indian Society for Dental Research
https://www.readbyqxmd.com/read/28828325/evaluation-of-death-among-the-patients-undergoing-permanent-pacemaker-implantation-a-competing-risks-analysis
#8
Haleh Ghaem, Mohammad Ghorbani, Samira Zare Dorniani
BACKGROUND: Permanent artificial pacemaker is one of the important therapies for treatment of cardiac conduction system problems. The present study aimed to determine the association between some predictive variables and all-cause and cause-specific mortality in the patients who had undergone pacemaker implantation. METHODS: This study was conducted on 1207 patients who had undergone permanent pacemaker implantation in the hospitals affiliated with Shiraz University of Medical Sciences, Iran, from Mar 2002 to Mar 2012...
June 2017: Iranian Journal of Public Health
https://www.readbyqxmd.com/read/28766718/left-ventricular-aneurysm-sudden-unexpected-deaths-in-a-29-year-old-man
#9
Supawon Srettabunjong
Left ventricular aneurysm (LVA) is an abnormal dilated heart structure, either congenital or acquired. LVA is a rare cardiac condition with no symptoms in most cases, thus occasionally diagnosed during investigations of other diseases. Its association with certain cardiac complications and sudden cardiac deaths has been reported. However, its role as a cause of sudden unexpected death is rare. The author reported a sudden cardiac death in a 29-year-old man with LVA. Without a significant coronary artery disease and known etiologies of LVA, such an abnormal heart structure in the present case was considered congenital LVA...
August 2, 2017: Journal of Forensic Sciences
https://www.readbyqxmd.com/read/28762363/routine-chest-radiograph-in-pre-employment-medical-examination-for-healthcare-workers-time-for-a-review-of-the-protocol
#10
Oluseun Oloruntoba Adeko, Adekunle Joseph Ariba, Ayodeji Anike Olatunji, Oluyemisi O Toyobo
BACKGROUND: Pre-employment medical examination (PEME) sought to evaluate the ability of workers to work without risk to their own or others' health and safety. This is important especially in a hospital environment where the patients may be at risk in case of employees harbouring infectious lung conditions or as a result of occupational exposure. Although not all healthcare workers are at risk or pose risk, they are expected to undergo chest X-ray (CXR) as part of PEME. AIMS: The aim of this study is to determine the number of prospective employees with abnormal findings on routine CXR, describe their characteristics and reassess the value of CXR in PEME...
April 2017: Nigerian Postgraduate Medical Journal
https://www.readbyqxmd.com/read/28759179/neonatal-marfan-syndrome-report-of-two-cases
#11
Tomas Jurko, Alexander Jurko, Milan Minarik, Vladimir Micieta, Ingrid Tonhajzerova, Hana Kolarovszka, Mirko Zibolen
Marfan syndrome is rarely diagnosed in the neonatal period because of variable expression and age-dependent appearance of clinical signs. The prognosis is usually poor due to high probability of congestive heart failure, mitral and tricuspid regurgitations with suboptimal response to medical therapy and difficulties in surgical management. The authors have studied two cases of Marfan syndrome in the newborn period. Two cases of neonatal Marfan syndrome, one male and one female, were diagnosed by characteristic physical appearance...
July 2, 2017: Neuro Endocrinology Letters
https://www.readbyqxmd.com/read/28754081/pulmonary-capillary-hemangiomatosis-and-hypertrophic-cardiomyopathy-in-a-persian-cat
#12
Tiffany L Jenkins, Ryan N Jennings
Pulmonary capillary hemangiomatosis (PCH) and pulmonary veno-occlusive disease (PVOD) are rare causes of primary pulmonary hypertension in humans, and, in 2016, were reported in dogs. A 1-y-old, neutered male Persian cat was presented for autopsy after sudden death several hours after grooming. Grossly, the lungs were mottled red-to-pink, contained rubbery-to-firm nodular foci, and there was moderate-to-marked left-sided cardiomegaly and left atrial dilation, consistent with hypertrophic cardiomyopathy. Microscopically, there was multifocal to regionally extensive capillary proliferation within pulmonary alveolar septa and around respiratory bronchioles, with nodular aggregates of densely arranged capillaries that replaced pulmonary alveolar spaces...
July 1, 2017: Journal of Veterinary Diagnostic Investigation
https://www.readbyqxmd.com/read/28746188/antenatal-diagnosis-and-prognostic-factors-of-aneurysmal-malformation-of-the-vein-of-galen-a-case-report-and-literature-review
#13
REVIEW
Doru Herghelegiu, Cringu A Ionescu, Irina Pacu, Roxana Bohiltea, Catalin Herghelegiu, Simona Vladareanu
RATIONALE: Vein of Galen aneurysmal malformation (VGAM) is a rare complex malformation of the cerebral vascular system consisting of arteriovenous shunts between the vein of Galen and the cerebral arteries. PATIENT CONCERNS: We present the case of a 31-year-old pregnant woman, para 1, gravida 1. DIAGNOSES: At 26 weeks' gestation who was examined for an anechoic mass on the cerebral median midline with color and pulsed Doppler. She presented with positive flow on the color and pulsed Doppler test, associated with hydrocephalus, cortical hypoplasia, cardiomegaly, jugular vein distension...
July 2017: Medicine (Baltimore)
https://www.readbyqxmd.com/read/28690487/cant%C3%A3%C2%BA-syndrome-associated-with-ovarian-agenesis
#14
Helena Fryssira, Stavroula Psoni, Styliani Amenta, Eirini Tsoutsou, Christalena Sofocleous, Emmanouil Manolakos, Maria Gavra, Hermann-Joseph Lüdecke, Johanna-Christina Czeschik
Cantú syndrome is a very rare autosomal dominant disorder characterized by generalized congenital hypertrichosis, neonatal macrosomia, coarse face, cardiomegaly, and occasionally, skeletal abnormalities. The syndrome has been attributed to mutated ABCC9 or KCNJ8 genes. We present a 4-year-old girl with developmental delay, distinctive coarse facial features, and generalized hypertrichosis apparent since birth. The investigation revealed absent ovaries and a hypoplastic uterus which have not been previously described...
June 2017: Molecular Syndromology
https://www.readbyqxmd.com/read/28665906/characteristics-of-patients-with-congestive-heart-failure-or-chronic-obstructive-pulmonary-disease-readmissions-within-30-days-following-an-acute-exacerbation
#15
Austin Castillo, Hawa Edriss, Kavitha Selvan, Kenneth Nugent
BACKGROUND: The Hospital Readmissions Reduction Program targets Medicare patients with congestive heart failure (CHF) and chronic obstructive pulmonary disease (COPD) and penalizes hospitals that have increased 30-day readmission rates for these patients. The main goals of this study were to determine the clinical explanations for readmissions within 30 days, to identify possible deficiencies in patient care, and to identify typical characteristics of patients who were readmitted to the hospital...
July 2017: Quality Management in Health Care
https://www.readbyqxmd.com/read/28662915/a-new-patient-with-intermediate-severe-salla-disease%C3%A2-with-hypomyelination-a-literature-review-for-salla-disease
#16
Rebecca Barmherzig, Garrett Bullivant, Dawn Cordeiro, David S Sinasac, Susan Blaser, Saadet Mercimek-Mahmutoglu
BACKGROUND: Likely pathogenic variants in SLC17A5 results in allelic disorders of free sialic acid metabolism including (1) infantile free sialic acid storage disease with severe global developmental delay, coarse facial features, hepatosplenomegaly, and cardiomegaly; (2) intermediate severe Salla disease with moderate to severe global developmental delay, hypotonia, and hypomyelination with or without coarse facial features, and (3) Salla disease with normal appearance, mild cognitive dysfunction, and spasticity...
September 2017: Pediatric Neurology
https://www.readbyqxmd.com/read/28659827/increased-postnatal-cardiac-hyperplasia-precedes-cardiomyocyte-hypertrophy-in-a-model-of-hypertrophic-cardiomyopathy
#17
Emily T Farrell, Adrian C Grimes, Willem J de Lange, Annie E Armstrong, J Carter Ralphe
Rationale: Hypertrophic cardiomyopathy (HCM) occurs in ~0.5% of the population and is a leading cause of sudden cardiac death (SCD) in young adults. Cardiomyocyte hypertrophy has been the accepted mechanism for cardiac enlargement in HCM, but the early signaling responsible for initiating hypertrophy is poorly understood. Mutations in cardiac myosin binding protein C (MYBPC3) are among the most common HCM-causing mutations. Ablation of Mybpc3 in an HCM mouse model (cMyBP-C(-/-)) rapidly leads to cardiomegaly by postnatal day (PND) 9, though hearts are indistinguishable from wild-type (WT) at birth...
2017: Frontiers in Physiology
https://www.readbyqxmd.com/read/28627835/clinical-and-molecular-delineation-of-a-novel-cys1050phe-missense-mutation-in-the-abcc9-gene-in-a-korean-patient-with-cant%C3%A3%C2%BA-syndrome
#18
HyoIn Kim, SeongWoo Kim, HaRa Jeon, JiYong Kim, JongHa Yoo, MoonWoo Seong, SungSup Park
Cantú syndrome is characterized by congenital hypertrichosis, cardiomegaly, and osteochondrodysplasia and is recognized as a rare syndrome. Although it has previously been reported that the majority of affected individuals have a relatively good prognosis, there are no reports on long-term follow up. Here we report the first case of Cantú syndrome in Korea and the associated changes in overall development with rehabilitation over several months.
May 1, 2017: Clinical Laboratory
https://www.readbyqxmd.com/read/28591192/perinatal-outcomes-and-congenital-heart-defect-prognosis-in-53313-non-selected-perinatal-infants
#19
Donghua Xie, Hua Wang, Zhiyu Liu, Junqun Fang, Tubao Yang, Shujin Zhou, Aihua Wang, Jiabi Qin, Lili Xiong
OBJECTIVE: To evaluate perinatal outcomes and congenital heart defect (CHD) prognosis in a non-selected population. METHODS: The population-based surveillance data used in this assessment of CHDs were based on birth defect surveillance data collected from 2010-2012 in Liuyang City, China. Infants living with CHDs were followed up for 5 years to determine their prognosis. Prevalence, prenatal diagnosis, perinatal outcomes, and total and type-specific prognosis data were assessed using SPSS 18...
2017: PloS One
https://www.readbyqxmd.com/read/28484098/fibrinous-pericarditis-secondary-to-bacterial-infection-in-a-cat
#20
Michihito Tagawa, Chihiro Kurashima, Genya Shimbo, Hiroshi Omura, Kenji Koyama, Noriyuki Horiuchi, Yoshiyasu Kobayashi, Keiko Kawamoto, Kazuro Miyahara
A three-year-old spayed domestic short-haired cat presented for evaluation of weight loss, cardiomegaly and pleural effusion. Echocardiographic examination demonstrated a thickened pericardium with mild pericardial effusion and a large volume of pleural effusion characterized by exudate. Although the cat was treated with antibiotics, the clinical symptoms did not improve. The cat developed dyspnea and died on day 7. Necropsy revealed a large amount of modified transudates ascites, pleural effusion and markedly dilated pericardium...
June 10, 2017: Journal of Veterinary Medical Science
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