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https://www.readbyqxmd.com/read/29141314/-a-novel-compound-heterozygous-mutation-in-abca3-gene-in-a-child-with-diffuse-parenchymal-lung-disease
#1
Y M Bao, X L Liu, X L Liu, J H Chen, Y J Zheng
Objective: To summarize the clinical characteristics of the diffuse parenchymal lung diseases in a child caused by a novel compound heterozygous ABCA3 mutation and explore the association between the phenotype and ABCA3 mutation. Method: The clinical material of a patient diagnosed with diffuse parenchymal lung disease with ABCA3 mutation in December 2016 in Shenzhen Children's Hospital was analyzed. The information about ABCA3 gene mutation updated before April, 2017 was searched and collected from the gene databases (including 1000Genomes, HGMD, EXAC) and the literatures (including Wanfang Chinese database and Pubmed)...
November 2, 2017: Zhonghua Er Ke za Zhi. Chinese Journal of Pediatrics
https://www.readbyqxmd.com/read/29136053/cyanosis-of-the-foot
#2
Veronica J Shi, Jonathan S Leventhal, Kofi A Mensah, Anjela Galan, Keith A Choate
No abstract text is available yet for this article.
October 2017: Cutis; Cutaneous Medicine for the Practitioner
https://www.readbyqxmd.com/read/29121837/triple-outlet-right-ventricle-with-duplication-of-the-aortic-root-and-intrapericardial-ascending-aorta
#3
Ashish Katewa, Balswaroop Sahu, Vishal Jain, Robert H Anderson
We present a case of a highly unusual congenital cardiac malformation, namely, triple outlet right ventricle with duplication of the aortic root and the intrapericardial component of the ascending aorta. A girl, aged five, presented with complaints of cyanosis and effort intolerance and was diagnosed with double-outlet right ventricle and subpulmonary infundibular stenosis. Intraoperatively, we noted that the aortic root was guarded by two separate aortic valves, oriented anteroposteriorly relative to each other, and separated within the right ventricle by a muscle bar...
January 1, 2017: World Journal for Pediatric & Congenital Heart Surgery
https://www.readbyqxmd.com/read/29111287/transcatheter-closure-of-a-small-atrial-septal-defect-with-an-amplatzer%C3%A2-patent-foramen-ovale-occluder-in-a-working-dog-with-cyanosis-and-exercise-intolerance-at-high-altitude
#4
A Shelden, S Wesselowski, S G Gordon, A B Saunders
A 6.5-year-old male Border Collie presented for transcatheter closure of an atrial septal defect due to exercise intolerance and cyanosis while working and training at altitude. A small, left-to-right shunting secundum atrial septal defect was confirmed with no evidence of significant right-sided volume overload. Pulmonary hypertension with subsequent right-to-left interatrial shunting occurring during exercise at high altitude was suspected and prompted the closure of the defect due to the dog's continued athletic requirements...
October 27, 2017: Journal of Veterinary Cardiology: the Official Journal of the European Society of Veterinary Cardiology
https://www.readbyqxmd.com/read/29105576/clinical-signs-of-hypoxaemia-in-children-aged-2%C3%A2-months-to-5%C3%A2-years-with-acute-respiratory-distress-in-switzerland-and-senegal
#5
Lucie von der Weid, Mario Gehri, Boubacar Camara, Aliou Thiongane, Andrès Pascual, Jean-Yves Pauchard
BACKGROUND: Hypoxaemia is a predictor of pneumonia-related mortality. WHO published recommendations for oxygen therapy based on clinical signs which state that, when oxygen is plentiful, it should be given to children with central cyanosis, inability to drink, severe chest indrawing, RR >70 breaths/min, grunting with every breath (in young infants) or those who display head nodding. These guidelines, however, are based on a few studies only. AIM: To assess the accuracy of combinations of clinical signs which predict hypoxaemia in pre-school children aged 2 months to 5 years with acute respiratory distress in hospitals in Switzerland and Senegal...
November 6, 2017: Paediatrics and International Child Health
https://www.readbyqxmd.com/read/29103604/incidence-predictors-and-mortality-of-infective-endocarditis-in-adults-with-congenital-heart-disease-without-prosthetic-valves
#6
Darren Mylotte, Dinela Rushani, Judith Therrien, Liming Guo, Aihua Liu, Kenneth Guo, Giuseppe Martucci, Andrew S Mackie, Jay S Kaufman, Ariane Marelli
Congenital heart disease (CHD) increases the risk of infective endocarditis (IE), though the lesion-specific risk and mortality are poorly defined. Using the population-based Quebec CHD database, we sought to describe the predictors of IE and to evaluate if IE was associated with mortality among adult CHD (ACHD) patients without prior valve replacement surgery. We extracted data on ACHD patients with IE and assessed the lesion-specific incidence of IE, risk factors for IE acquisition, and all-cause 1-year mortality...
October 14, 2017: American Journal of Cardiology
https://www.readbyqxmd.com/read/29066332/anticoagulation-for-thromboembolic-risk-reduction-in-adults-with-congenital-heart-disease
#7
REVIEW
Darryl Wan, Clara Tsui, Marla Kiess, Jasmine Grewal, Andrew D Krahn, Santabhanu Chakrabarti
Adults with congenital heart disease (ACHD) represent one of the fastest expanding groups of patients in contemporary practice with unique and often complex management pathways. ACHD have a higher risk of thromboembolism not only from their complex physiology and anatomy but also from substrates such as valvular heart disease, atrial arrhythmias, cyanosis, and ventricular dysfunction, resulting in significant morbidity and mortality. Thromboembolic event rates in ACHD have been shown to be related to Congestive Heart Failure, Hypertension, Age (≥75 years), Diabetes, Stroke/Transient Ischemic Attack, Vascular Disease, Age (65-74 years), Sex (Female) (CHA2DS2-VASc) scores (0...
August 19, 2017: Canadian Journal of Cardiology
https://www.readbyqxmd.com/read/29062561/transposition-of-the-great-arteries-and-coarctation-of-the-aorta-in-an-infant-presenting-with-bronchiolitis-an-incidental-finding
#8
Khaloud S Al-Mukhaini, Ala M Mohamed
The transposition of the great arteries (TGA) is a complex congenital heart disease which usually presents as cyanosis in neonates with limited mixing between the systemic and pulmonary circulatory systems. A delayed diagnosis of TGA can lead to ventricular failure. We report a six-week-old infant who was admitted to the paediatric Intensive Care Unit of the Royal Hospital, Muscat, Oman, in 2016 for bronchiolitis. During admission, she was incidentally diagnosed with TGA and coarctation of the aorta. Postnatal screening, including the use of pulse oximetry, plays a significant role in avoiding a late diagnosis of TGA; however, this screening tool is not widely used in Oman...
August 2017: Sultan Qaboos University Medical Journal
https://www.readbyqxmd.com/read/29060838/on-the-detection-of-peripheral-cyanosis-in-individuals-with-distinct-levels-of-cutaneous-pigmentation
#9
Gladimir V G Baranoski, Spencer R Van Leeuwen, Tenn F Chen
Peripheral cyanosis, the purple or blue coloration of hands and feet, can represent the initial signs of life-threatening medical conditions such as heart failure due to coronary occlusion. This makes its effective detection relevant for the timely screening of such conditions. In order to reduce the probability of false negatives during the assessment of peripheral cyanosis, one needs to consider that the manifestation of its characteristic chromatic attributes can be affected by a number of physiological factors, notably cutaneous pigmentation...
July 2017: Conference Proceedings: Annual International Conference of the IEEE Engineering in Medicine and Biology Society
https://www.readbyqxmd.com/read/29059818/elucidating-the-biophysical-processes-responsible-for-the-chromatic-attributes-of-peripheral-cyanosis
#10
Gladimir V G Baranoski, Spencer R Van Leeuwen, Tenn F Chen
The purple or blue coloration of hands and feet, known as peripheral cyanosis, can represent one of the initial signs of potentially life threatening medical conditions. Consequently, procedures aimed at its early detection and interpretation can help health-care professionals to select the appropriate treatment for these conditions. The effectiveness of such procedures, in turn, depends on the correct assessment of the biophysical processes responsible for eliciting this abnormal skin appearance. However, despite the diverse body of existing clinical research involving cyanosis, the interplay between physiological changes and the optical phenomena leading to cyanotic responses remains not fully understood...
July 2017: Conference Proceedings: Annual International Conference of the IEEE Engineering in Medicine and Biology Society
https://www.readbyqxmd.com/read/29052826/fournier-s-gangrene-a-retrospective-analysis-of-25-patients
#11
Metin Yücel, Adnan Özpek, Fatih Başak, Ali Kılıç, Ethem Ünal, Sema Yüksekdağ, Aylin Acar, Gürhan Baş
BACKGROUND: Fournier's gangrene is a surgical emergency that progresses rapidly and insidiously and results in high morbidity and mortality rates unless it is immediately diagnosed and managed. Here we analyze the outcomes of patients who were followed up and treated for Fournier's gangrene. METHODS: We conducted a retrospective analysis of the medical data of 25 patients operated on for Fournier's gangrene between January 2010 and June 2015. The diagnosis of Fournier's gangrene was made by performing a physical examination...
September 2017: Ulusal Travma Ve Acil Cerrahi Dergisi, Turkish Journal of Trauma & Emergency Surgery: TJTES
https://www.readbyqxmd.com/read/29045954/-pulmonary-arterial-hypertension-as-leading-manifestation-of-methylmalonic-aciduria-clinical-characteristics-and-gene-testing-in-15-cases
#12
X Q Liu, H Yan, J X Qiu, C Y Zhang, J G Qi, X Zhang, H J Xiao, Y L Yang, Y H Chen, J B DU
OBJECTIVE: To deepen our understanding of Methylmalonic aciduria (MMA) associated pulmonary hypertension (PH) by analyzing the characteristics of clinical presentation, pulmonary high resolusion CT(HRCT), treatment response and gene mutation. METHODS: This study includes 15 cases of pediatric patients with MMA associated PH diagnosed and treated in Peking University First Hospital pediatric department between May 2012 and May 2016 with symptoms of PH as their leading presentation...
October 18, 2017: Beijing da Xue Xue Bao. Yi Xue Ban, Journal of Peking University. Health Sciences
https://www.readbyqxmd.com/read/29042354/a-comparison-between-patent-ductus-arteriosus-stent-and-modified-blalock-taussig-shunt-as-palliation-for-infants-with-ductal-dependent-pulmonary-blood-flow-insights-from-the-congenital-catheterization-research-collaborative
#13
Andrew C Glatz, Christopher J Petit, Bryan H Goldstein, Michael S Kelleman, Courtney E McCracken, Alicia McDonnell, Timothy Buckey, Christopher E Mascio, Subi Shashidharan, R Allen Ligon, Jingning Ao, Wendy Whiteside, W Jack Wallen, Christina M Metcalf, Varun Aggarwal, Hitesh Agrawal, Athar M Qureshi
Background -Infants with ductal-dependent pulmonary blood flow may undergo palliation with either a patent ductus arteriosus (PDA) stent or modified Blalock-Taussig (BT) shunt. A balanced multi-center comparison of these two approaches is lacking. Methods -Infants with ductal-dependent pulmonary blood flow, palliated with either PDA stent or BT shunt from 1/08 to 11/15, were reviewed from the four member centers of the Congenital Catheterization Research Collaborative. Outcomes were compared using propensity score adjustment to account for baseline differences between groups...
October 17, 2017: Circulation
https://www.readbyqxmd.com/read/29036724/etiology-and-clinical-characteristics-of-community-acquired-pneumonia-with-airway-malacia-in-children
#14
Wang Yu-Qing, Hao Chuang-Li, Ji Wei, Chen Zheng-Rong, Zhang Xin-Xin, Gu Wen-Jing
Objective: The objective of this article is to study the etiology of community-acquired pneumonia in children with airway malacia. Methods: We retrospectively reviewed the medical records of 428 pneumonia patients. All patients underwent bronchoscopy, and bronchoalveolar lavage samples were processed for microbiological assessment. Results: In a total of 428 cases reviewed, 60 were found to have airway malacia. Pathogens were identified in 44 of the 60 specimens (73...
September 27, 2017: Journal of Tropical Pediatrics
https://www.readbyqxmd.com/read/29032896/risk-factors-of-icu-or-high-dependency-requirements-amongst-hospitalized-pediatric-pertussis-cases-a-10-year-retrospective-series-singapore
#15
Chia-Yin Chong, Chee-Fu Yung, Natalie Woon-Hui Tan, Sanchalika Acharyya, Koh-Cheng Thoon
INTRODUCTION: Pertussis causes the highest complication rates and deaths in the infant group. Our study explored risk factors for ICU/high dependency (HD) admissions and intubation/non-invasive ventilation (NIV). METHODS: A retrospective review of pertussis admissions over 10 years from 2007 to 2016 was done at KK Women's and Children's Hospital, Singapore. To understand risk factors for severe pertussis infection, we compared cases requiring ICU/HD care with controls admitted to the general ward...
November 7, 2017: Vaccine
https://www.readbyqxmd.com/read/28992910/extreme-tetralogy-of-fallot-with-polycythemia-in-a-ferret-mustela-putorius-furo
#16
Sara Dias, Marta Planellas, Albert Canturri, Jaume Martorell
A 5-month-old, intact male ferret (Mustela putorius furo) was presented with apathy, tachypnea and exercise intolerance. On initial physical examination, tachypnea and cyanosis were the two primary clinical signs detected. The complete blood count also revealed a severe polycythemia, with lymphopenia, neutrophilia and eosinophilia. Further diagnostic imaging tests were performed. The thoracic radiographs revealed cardiomegaly and a diffuse alveolar pulmonary pattern. Consequently, an echocardiography was performed and showed an interventricular septal defect, pulmonic artery occlusion, overriding of the aorta and right ventricle hypertrophy...
June 2017: Topics in Companion Animal Medicine
https://www.readbyqxmd.com/read/28979040/the-effect-of-autologus-blood-priming-on-cerebral-oximetry-in-congenital-cardiac-surgery-patients
#17
Ashley Hodge, Apryl Cohen, Peter Winch, Dmitry Tumin, Jeffrey Burnside, Todd Ratliff, Mark Galantowicz, Aymen Naguib
Hemodilution is one of the sequelae of cardiopulmonary bypass (CPB). Autologous blood priming (retrograde autologous priming [RAP]/venous antegrade priming [VAP]) and acute normovolemic hemodilution (ANH) may be effective techniques to minimize hemodilution. The primary objective of this study is to investigate the impact of RAP/VAP combined with ANH on changes in cerebral saturations. A retrospective analysis of 52 patients undergoing congenital cardiac surgery requiring CPB between July 2014 and March 2015 was performed...
September 2017: Journal of Extra-corporeal Technology
https://www.readbyqxmd.com/read/28966363/accidental-selenium-toxicosis-in-lambs
#18
Christina M McKenzie, Ahmad N Al-Dissi
Acute selenium toxicosis occurred in 3-week-old lambs after accidental over-supplementation by intramuscular injection and caused dyspnea, cyanosis, and sudden death. Pathological lesions included myocardial necrosis, skeletal muscle necrosis, pulmonary edema, hydrothorax, and hydropericardium.
October 2017: Canadian Veterinary Journal. la Revue Vétérinaire Canadienne
https://www.readbyqxmd.com/read/28963729/long-term-treatment-with-methylene-blue-in-a-dog-with-hereditary-methemoglobinemia-caused-by-cytochrome-b5-reductase-deficiency
#19
J A Jaffey, M R Harmon, N A Villani, E K Creighton, G S Johnson, U Giger, J R Dodam
A juvenile male mixed breed dog was presented for lethargy, exercise intolerance, and aggression when touched on the head. Cyanosis, tachycardia, and tachypnea were observed and persisted during oxygen supplementation. Arterial blood gas analysis by co-oximetry identified an increased methemoglobin concentration (27%; normal, <2%) with normal arterial oxygen tension. The methemoglobinemia and associated clinical signs resolved after administration of methylene blue (1 mg/kg) IV, and the dog was discharged...
September 29, 2017: Journal of Veterinary Internal Medicine
https://www.readbyqxmd.com/read/28952972/acute-opiate-overdose-an-update-on-management-strategies-in-emergency-department-and-critical-care-unit
#20
Rukma Parthvi, Abhinav Agrawal, Sameer Khanijo, Adey Tsegaye, Arunabh Talwar
BACKGROUND: Opioids are natural, semisynthetic, or synthetic substances that act on opioid receptors in the central nervous system. Clinically, they are prescribed for pain management. Opioid overdose (OOD) occurs when the central nervous system and respiratory drive are suppressed because of excessive consumption of the drug. Symptoms of OOD include drowsiness, slow breathing, pinpoint pupils, cyanosis, loss of consciousness, and death. Due to their addictive potential and easy accessibility opioid addiction is a growing problem worldwide...
September 13, 2017: American Journal of Therapeutics
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