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https://www.readbyqxmd.com/read/28222032/unexplained-cyanosis-caused-by-hepatopulmonary-syndrome-in-a-girl-with-apeced-syndrome
#1
Fatih Celmeli, Abdullah Kocabas, Ishak A Isik, Mesut Parlak, Kai Kisand, Serdar Ceylaner, Doga Turkkahraman
Autoimmune polyendocrinopathy, candidiasis and ectodermal dystrophy (APECED) is a rare but devastating primary immunodeficiency disease caused by loss-of-function mutations in autoimmune regulator (AIRE) gene on chromosome 21q22.3. The clinical spectrum of the disease is characterized by a wide heterogeneity because of autoimmune reactions toward different endocrine and non-endocrine organs. Here, we report a 17-year-old Turkish girl diagnosed with APECED at 9 years in whom a novel homozygote mutation in AIRE gene p...
February 21, 2017: Journal of Pediatric Endocrinology & Metabolism: JPEM
https://www.readbyqxmd.com/read/28196557/anomalous-drainage-of-isolated-superior-caval-vein-to-the-left-atrium-the-oldest-reported-unrepaired-case
#2
Maria Boutsikou, Dudley J Pennell, Eva Nyktari
Isolated right superior caval vein drainage into the left atrium is a rare congenital cardiac anomaly usually presenting with hypoxaemia and cyanosis. Surgical repair is the definitive treatment for this condition. In this report, we present the case of a 72-year-old patient with uncorrected anomalous drainage of a right superior caval vein into the left atrium, first diagnosed in the 1960s. To the best of our knowledge, this is the oldest reported unrepaired case.
February 15, 2017: Cardiology in the Young
https://www.readbyqxmd.com/read/28178121/a-case-report-of-congenital-umbilical-arteriovenous-malformation-complicated-with-liver-failure-after-surgical-excision
#3
Ji-Won Han, Hyun-Young Kim, Sung-Eun Jung
RATIONALE: Few case reports of umbilical arteriovenous malformation (AVM) have been reported. Herein, we report a neonatal case of umbilical AVM who underwent liver failure after surgical excision. PATIENT CONCERNS: The patient was a girl delivered at a gestational age of 39+5 weeks showing cyanosis and heart murmur. DIAGNOSES: Cardiac echography, abdominal ultrasonography (USG), and computed tomography revealed suspecting the umbilical AVM...
February 2017: Medicine (Baltimore)
https://www.readbyqxmd.com/read/28177675/what-factors-contribute-to-the-elevation-of-serum-free-fatty-acids-ffa-in-newborns-in-the-cardiac-surgical-setting
#4
Carin Wittnich, Michael P Belanger
Elevations in serum free fatty acids (FFA) levels during heart surgery have been reported in humans and experimental animals, causing increased arrhythmias, decreased heart function, and contributing to mortality. Factors such as heparin administration, age, cardiopulmonary bypass (CPB) and cyanosis/hypoxia have been implicated but not proven. This study was designed to clarify the contribution of these factors using an experimental pig model as follows: a) adult (n=10) versus 3-day old piglets (n=18) had FFA levels assessed before and after heparin administration; b) 3 day old piglets, the additional effect of CPB (n=8) or just severe hypoxia (PaO2 = 20-25 mmHg; n=6) exposure on FFA levels...
January 9, 2017: Canadian Journal of Physiology and Pharmacology
https://www.readbyqxmd.com/read/28176173/massive-left-atrial-calcification-a-case-report-and-review-of-the-literature
#5
Saeid Hosseini, Yousef Rezaei, Niloufar Samiei, Anita Sadeghpour, Mohammad Mehdi Peighambari, Carlos A Mestres, Frank W Sellke
Left atrial (LA) calcification is mostly observed in patients with rheumatic mitral valve (MV) diseases who underwent surgical treatment. We report a case of LA calcification in a 69-year-old woman presented with dyspnea and cyanosis. Admission electrocardiogram showed atrial fibrillation and biventricular hypertrophy. Her chest roentgenogram revealed cardiomegaly and a curvilinear whitish shadow in the area of LA. Transthoracic echocardiography revealed severe mitral stenosis and massive LA thrombosis. The patient underwent an emergent surgery, during which the whitish line on chest roentgenogram proved to be a calcified LA inner wall...
February 7, 2017: General Thoracic and Cardiovascular Surgery
https://www.readbyqxmd.com/read/28167694/uncommon-cause-of-adult-onset-cyanosis-single-left-ventricle
#6
Harsh Agrawal, Jessica D Schaefer, Mohamed Teleb, Laura M Cashin
No abstract text is available yet for this article.
February 6, 2017: BMJ Case Reports
https://www.readbyqxmd.com/read/28126028/acute-airway-obstruction-due-to-postoperative-retropharyngeal-hematoma-after-anterior-cervical-fusion-a-retrospective-analysis
#7
Kyung-Jin Song, Byung-Wan Choi, Dong-Hyun Lee, Dong-Ju Lim, Seung-Yeol Oh, Sung-Soo Kim
BACKGROUND: Acute airway obstruction (AAO) after anterior cervical fusion (ACF) can be caused by postoperative retropharyngeal hematoma, which requires urgent recognition and treatment. However, the causes, evaluation, and appropriate treatment of this complication are not clearly defined. The purpose of this retrospective review of a prospective database was to investigate etiologic factors related to the development of AAO due to postoperative hematoma after ACF and formulate appropriate prevention and treatment guidelines...
January 26, 2017: Journal of Orthopaedic Surgery and Research
https://www.readbyqxmd.com/read/28115439/brief-resolved-unexplained-event-new-diagnosis-in-infants
#8
Karen Arane, Ilene Claudius, Ran D Goldman
QUESTION: For many years, the term apparent life-threatening event (ALTE) was associated with sudden infant death syndrome, and parents who described an acute event in their infants were sent to the hospital for admission. I understand that for infants new terminology is recommended. What is the current approach to a near-death experience of an infant? ANSWER: A recent clinical practice guideline revised the name and definition of an ALTE to a brief resolved unexplained event (BRUE)...
January 2017: Canadian Family Physician Médecin de Famille Canadien
https://www.readbyqxmd.com/read/28109708/bordetella-pertussis-infection-in-children-with-severe-pneumonia-philippines-2012-2015
#9
Alexander Sadiasa, Mariko Saito-Obata, Clyde Dapat
A case-comparison study was conducted based on an observational study of severe pneumonia among hospitalized children in the Philippines. The children, from 8days to 13years old and hospitalized with clinical diagnosis of severe or very severe pneumonia from August 2012 to February 2015, were recruited. Nasopharyngeal swabs were collected from 1152 cases and B. pertussis were detected from 34 cases by PCR. Pertussis-positive cases were more likely to have no fever, more than one week of coughing and breathing difficulty, decreased breathing sounds, and central cyanosis than pertussis- negative cases...
January 18, 2017: Vaccine
https://www.readbyqxmd.com/read/28104360/brown-colored-buccal-mucosa-associated-with-methemoglobinemia-cyanosis-appears-different-in-varying-ethnic-groups
#10
Rafiq Kanji, Hank Joseph Schneider, Mark Pontin
No abstract text is available yet for this article.
January 16, 2017: Journal of Emergency Medicine
https://www.readbyqxmd.com/read/28093089/atrial-septal-defect-with-right-to-left-shunt-in-the-absence-of-pulmonary-hypertension
#11
Devi A Manuel, Gopal C Ghosh, Anoop G Alex
We describe the case of a 27-year-old gentleman who developed late-onset clubbing and cyanosis. Transoesophageal echocardiography revealed a 27-mm ostium secundum atrial septal defect and a large, floppy Eustachian valve directing right atrial blood to the left side of the heart.
January 17, 2017: Cardiology in the Young
https://www.readbyqxmd.com/read/28090054/hemoglobin-kansas-as-a-rare-cause-of-cyanosis-a-case-report-and-review-of-the-literature
#12
Yoshikuni Nagayama, Minoru Yoshida, Tadashi Kohyama, Katsuyuki Matsui
Hemoglobin (Hb) Kansas is an inherited Hb variant with a low oxygen affinity that is associated with low oxygen saturation on pulse oximetry (SpO2). It leads to asymptomatic cyanosis. Patients with Hb Kansas do not require any specific treatment and the prognosis is good. In patients with unexplained cyanosis, we should thus consider Hb variants, including Hb Kansas and avoid unnecessary investigations and managements. We herein report the case of 65-year-old woman with Hb Kansas and review five other cases (three lineages) that have been reported in Japan...
2017: Internal Medicine
https://www.readbyqxmd.com/read/28087259/clinical-manifestations-outcomes-and-etiologies-of-perinatal-stroke-in-taiwan-comparisons-between-ischemic-and-hemorrhagic-stroke-based-on-10-year-experience-in-a-single-institute
#13
Chien-Chung Lee, Jainn-Jim Lin, Kuang-Lin Lin, Wai-Ho Lim, Kai-Hsiang Hsu, Jen-Fu Hsu, Ren-Huei Fu, Ming-Chou Chiang, Shih-Ming Chu, Reyin Lien
BACKGROUND: Perinatal stroke is a common cause of established neurological sequelae. Although several risk factors have been identified, many questions regarding causes and clinical outcomes remain unanswered. This study investigated the clinical manifestations and outcomes of perinatal stroke and identified its etiologies in Taiwan. METHODS: We searched the reports of head magnetic resonance imaging and computed tomography performed between January 2003 and December 2012...
November 19, 2016: Pediatrics and Neonatology
https://www.readbyqxmd.com/read/28078984/rasburicase-induced-methemoglobinemia-in-a-patient-with-glucose-6-phosphate-dehydrogenase-deficiency
#14
Maliha Khan, Shilpa Paul, Saad Farooq, Thein Hlaing Oo, Priya Ramshesh, Nitin Jain
BACKGROUND: Rasburicase is commonly used in patients with hematologic malignancies for tumor lysis syndrome prophylaxis and management. Methemoglobinemia is a serious rare adverse effect of rasburicase, more common in patients with G6PD deficiency. Prompt diagnosis and appropriate management of this condition can make the difference between successful recovery and significant morbidity. Here we discuss the link of rasburicase with methemoglobinemia and the pathophysiology behind increased incidence of this side effect in G6PD deficient patients...
January 11, 2017: Current Drug Safety
https://www.readbyqxmd.com/read/28077469/risk-factors-for-excess-mortality-in-adults-with-congenital-heart-diseases
#15
Jose Maria Oliver, Pastora Gallego, Ana Elvira Gonzalez, Diego Garcia-Hamilton, Pablo Avila, Raquel Yotti, Ignacio Ferreira, Francisco Fernandez-Aviles
AIMS: To examine factors related to excess mortality in a cohort of adults with congenital heart disease (CHD). METHODS AND RESULTS: We conducted a survival analysis using prospective data of 3311 adults with CHD [50.5% males, median age at entry 22.5 years (IQR 18-39), median follow-up time 10.5 years (IQR: 4.4-18)]. Survival status of each patient was further verified by cross checking with the Spanish National Death Index. During a total follow-up of 37608 person-years, 336 (10%) patients died...
January 10, 2017: European Heart Journal
https://www.readbyqxmd.com/read/28077182/functional-tricuspid-stenosis-a-rare-presentation-of-suspected-rhabdomyoma-as-congenital-cyanotic-heart-disease
#16
Anishkumar Nair, Gopalan Nair Rajesh, Chakanalil Govindan Sajeev
Cardiac tumours in newborns are often asymptomatic and can be sporadically detected on routine screening unless they result in intractable arrhythmias or haemodynamically significant obstructions causing heart failure. Their presentation as a cause of congenital cyanosis is never anticipated. We report a rare case of a newborn presenting with congenital cyanosis consequent to suspected cardiac rhabdomyoma causing tricuspid inflow obstruction. Our experience with this patient with two large cardiac masses illustrates the significance of its inclusion in the differential diagnosis of perinatal cyanosis, as early detection and surgical management might be the only lifesaving options, if performed well in time...
January 12, 2017: Cardiology in the Young
https://www.readbyqxmd.com/read/28072475/safety-of-sulfur-hexafluoride-microbubbles-in-sonography-of-abdominal-and-superficial-organs-retrospective-analysis-of-30-222-cases
#17
Chunlin Tang, Kejing Fang, Yanli Guo, Rui Li, Xiaozhou Fan, Ping Chen, Zhaohui Chen, Qiangwei Liu, Ye Zou
OBJECTIVES: The purpose of this study was to investigate the safety of the sulfur hexafluoride microbubble contrast agent SonoVue (Bracco SpA, Milan, Italy) and to implement precautions with the intent of further improving the safety of this contrast agent. METHODS: A total of 30,222 patients undergoing contrast-enhanced sonography of abdominal and superficial organs in our hospital from January 2005 to December 2014 were retrospectively investigated. SonoVue was used as the ultrasound contrast agent...
January 10, 2017: Journal of Ultrasound in Medicine: Official Journal of the American Institute of Ultrasound in Medicine
https://www.readbyqxmd.com/read/28065256/a-newborn-infant-with-oxygen-desaturation-during-sleep
#18
Ashley Deschamp, Ameet Daftary
The patient is a 1-week-old boy born at 37+2 weeks' gestational age through spontaneous vaginal delivery. The pregnancy was complicated by maternal gestational diabetes mellitus and pre-eclampsia. The Apgar score was 9 at both 1 minute and 5 minutes after birth. Because of hypoglycemia at delivery that required IV dextrose, he was admitted to the local neonatal intensive care unit. His blood glucose levels quickly stabilized, dextrose administration was discontinued, and the patient began breast-feeding. On day 2 of life, the patient began having intermittent oxygen desaturation, with oxygen saturation as measured by pulse oximetry down to 70% while sleeping; he was transferred to a tertiary-care NICU for further management...
January 2017: Chest
https://www.readbyqxmd.com/read/28055329/percutaneous-transhepatic-fontan-kreutzer-completion-of-hepatic-vein-inclusion
#19
Ignacio Juaneda, Alejandro Peirone, Adolfo Ferrero Guadagnoli, Alejandro Contreras, Santiago Orozco, Juan Diaz, Christian Kreutzer
We report the case of an 11-year-old girl with heterotaxy syndrome, dextrocardia, and azygos continuation of an interrupted inferior vena cava who had developed pulmonary arteriovenous fistulas after a Kawashima procedure consisting of bilateral superior cavopulmonary anastomoses. She presented with profound cyanosis, fatigue, and failure to thrive. An operative procedure to direct hepatic vein effluent to the pulmonary circulation was performed with placement of an extracardiac conduit between the hepatic veins and the left pulmonary artery...
January 1, 2017: World Journal for Pediatric & Congenital Heart Surgery
https://www.readbyqxmd.com/read/28040762/glial-fibrillary-acidic-protein-plasma-levels-are-correlated-with-degree-of-hypothermia-during-cardiopulmonary-bypass-in-congenital-heart-disease-surgery
#20
Luca Vedovelli, Massimo Padalino, Sara D'Aronco, Giovanni Stellin, Carlo Ori, Virgilio P Carnielli, Manuela Simonato, Paola Cogo
OBJECTIVES: Improved congenital heart defect (CHD) operations have reduced operative mortality to 3%. The major concern is now long-term neurological outcomes. We measured plasma glial fibrillary acidic protein (GFAP), an early marker of brain injury, during different phases of cardiopulmonary bypass (CPB), to correlate the increase of GFAP to clinical parameters or specific operative phases. METHODS: We performed a prospective, single-centre, observational study in children undergoing cardiac operations...
December 31, 2016: Interactive Cardiovascular and Thoracic Surgery
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