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Congenital malformation

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https://www.readbyqxmd.com/read/28647711/down-syndrome-and-moyamoya-disease-unusual-cause-of-stroke
#1
Carlos Tavares Bello, Catarina Barreiros, Inês Gil, Carlos Vasconcelos
Down syndrome is a frequent clinical entity, being considered one of the most frequent chromosomal aberrations. It is characterised by a typical clinical phenotype and is associated with a heterogeneous group of organ and system-specific abnormalities. The cardiovascular system is commonly affected and if so, it may be associated with an increased morbidity and mortality. Cerebrovascular events in patients with Down syndrome are multifactorial, being possibly related to congenital heart disease, vascular malformations and traditional cardiovascular risk factors...
June 24, 2017: BMJ Case Reports
https://www.readbyqxmd.com/read/28647272/outcomes-of-preterm-infants-following-discussions-about-withdrawal-or-withholding-of-life-support
#2
Jennifer James, David Munson, Sara B DeMauro, John C Langer, April R Dworetz, Girija Natarajan, Margarita Bidegain, Christine A Fortney, Ruth Seabrook, Betty R Vohr, Jon E Tyson, Edward F Bell, Brenda B Poindexter, Seetha Shankaran, Rosemary D Higgins, Abhik Das, Barbara J Stoll, Haresh Kirpalani
OBJECTIVES: To describe the frequency of postnatal discussions about withdrawal or withholding of life-sustaining therapy (WWLST), ensuing WWLST, and outcomes of infants surviving such discussions. We hypothesized that such survivors have poor outcomes. STUDY DESIGN: This retrospective review included registry data from 18 centers of the National Institute of Child Health and Human Development Neonatal Research Network. Infants born at 22-28 weeks of gestation who survived >12 hours during 2011-2013 were included...
June 21, 2017: Journal of Pediatrics
https://www.readbyqxmd.com/read/28646847/prevalence-of-birth-defects-in-iran-a-systematic-review-and-meta-analysis
#3
Yadollah Zahed Pasha, Amin Vahedi, Mohammad Zamani, Reza Alizadeh-Navaei, Ermia Zahed Pasha
INTRODUCTION: Birth defects are a series of disorders that occur during embryonic life. In Iran, no national situation analysis is available to show the rate of congenital disorders. We aimed to estimate the prevalence of structural birth defects in Iran. METHODS: We searched for English studies on PubMed, Scopus and Google Scholar from January 1990 to July 2016. The search for Persian articles was performed in Scientific Information Database and Magiran. Two reviewers assessed the identified articles independently...
June 1, 2017: Archives of Iranian Medicine
https://www.readbyqxmd.com/read/28646278/liver-involvement-in-kidney-disease-and-vice-versa
#4
REVIEW
Karen Van Hoeve, Djalila Mekahli, Eva Morava, Elena Levtchenko, Peter Witters
The liver and kidneys are often similarly affected by a single disease. This is the case in metabolic, immunological, toxic, and infectious diseases, and in the different congenital malformation syndromes. Also, an enzymatic defect in an otherwise healthy liver or the consequences of advanced liver disease by itself can cause kidney disease as a secondary phenomenon. In this review, we describe numerous pathogenic mechanisms leading to dysfunction or malformations of the liver and kidneys in children. We encourage multidisciplinary management for optimal care...
June 23, 2017: Pediatric Nephrology: Journal of the International Pediatric Nephrology Association
https://www.readbyqxmd.com/read/28646142/efficacy-and-safety-of-tenofovir-disoproxil-fumarate-in-preventing-vertical-transmission-of-hepatitis-b-in-pregnancies-with-high-viral-load
#5
Jun-Ze Chen, Zuo-Wei Liao, Fei-Long Huang, Ru-Kui Su, Wen-Bo Wang, Xue-Yuan Cheng, Jie-Qing Chen, Jia-Qi Liu, Zhong Huang
This study was a meta-analysis of the literature on the efficacy and safety of tenofovir disoproxil fumarate (TDF) in preventing vertical transmission of hepatitis B in pregnancies with high viral load. Four observational studies and one randomized controlled trial involving 585 pregnant women and 595 newborns were included in the meta-analysis. TDF was more effective than the placebo in reducing vertical transmission in HBeAg-positive chronic hepatitis B (CHB) pregnancies with high serum HBV-DNA levels (OR = 0...
June 23, 2017: Scientific Reports
https://www.readbyqxmd.com/read/28645901/antenatal-thoracoamniotic-shunting-in-congenital-cystic-adenomatoid-malformation
#6
Terry Cullen, Clare Tower, Kristin Tanney
No abstract text is available yet for this article.
June 23, 2017: BMJ Case Reports
https://www.readbyqxmd.com/read/28645241/long-term-outcome-after-right-ventricle-to-pulmonary-artery-conduit-surgery-and-reintervention
#7
Kristofer Skoglund, Gunnar Svensson, Ulf Thilén, Mikael Dellborg, Peter Eriksson
BACKGROUND: Reconstruction of the right ventricular outflow tract with a conduit is an established surgical procedure in congenital heart disease and reinterventions are common. OBJECTIVE: An increasing number of patients have a conduit, but there are few population-based studies of long-term outcomes after conduit surgery, reoperations, and transcatheter pulmonary valve replacement. METHODS: In April 2015, all adult patients with a conduit were identified in the Swedish National Registry for Congenital Heart Disease (SWEDCON)...
June 23, 2017: Scandinavian Cardiovascular Journal: SCJ
https://www.readbyqxmd.com/read/28645121/effect-of-obesity-on-gestational-and-perinatal-outcomes
#8
Sônia Regina Cabral Madi, Rosa Maria Rahmi Garcia, Vandrea Carla de Souza, Renato Luís Rombaldi, Breno Fauth de Araújo, José Mauro Madi
Purpose To assess the impact of pre-pregnancy obesity (body mass index [BMI] ≥ 30 kg/m(2)) on the gestational and perinatal outcomes. Methods Retrospective cohort study of 731 pregnant women with a BMI ≥ 30 kg/m(2) at the first prenatal care visit, comparing them with 3,161 women with a BMI between 18.5 kg/m(2) and 24.9 kg/m(2). Maternal and neonatal variables were assessed. Statistical analyses reporting the demographic features of the pregnant women (obese and normal) were performed with descriptive statistics followed by two-sided independent Student's t tests for the continuous variables, and the chi-squared (χ(2)) test, or Fisher's exact test, for the categorical variables...
June 23, 2017: Revista Brasileira de Ginecologia e Obstetrícia
https://www.readbyqxmd.com/read/28644147/prevalence-of-prenatally-diagnosed-congenital-cystic-adenomatoid-malformation-among-fetuses-in-china
#9
Dazhi Fan, Qing Xia, Shuzhen Wu, Li Liu, Zhen Yu, Wen Wang, Song Wu, Xiaoling Guo, Zhengping Liu
The prevalence of congenital cystic adenomatoid malformation among fetuses still varies in different studies in China. The present meta-analysis was intended to evaluate the pooled prevalence of fetuses in China. Four English (Pubmed, Elsevier Science Direct, Web of Science and the Cochrane Library) and four Chinese (the Chinese Biological Medical Literature database, the Chinese National Knowledge Infrastructure database, VIP database and Wanfang Data) databases were searched from inception to July 2016. Meta-analyses were performed using Stata (version 12...
June 20, 2017: Oncotarget
https://www.readbyqxmd.com/read/28643663/delivery-outcomes-of-term-pregnancy-complicated-by-idiopathic-polyhydramnios
#10
S Zeino, L Carbillon, I Pharisien, A Tigaizin, M Benchimol, R Murtada, J Boujenah
OBJECTIVE: Polyhydramnios is associated with an increased risk of cesarean section. The aetiology of polyhydramnios and the characteristics of the labour may be confounding factors. The objective was to study the characteristics and mode of delivery in case of pregnancy complicated with idiopathic polyhydramnios. METHODS: This retrospective matched and controlled study included all pregnant women with idiopathic polyhydramnios (amniotic index>25cm or single deepest pocket>8cm) diagnosed at the 2nd or 3rd trimester and persistent at term delivery (>37weeks of pregnancy) in our institution...
April 2017: Journal of gynecology obstetrics and human reproduction
https://www.readbyqxmd.com/read/28642639/foregut-duplication-cysts-in-children
#11
Keshawadhana Balakrishnan, Frances Fonacier, Shilpa Sood, Natasha Bamji, Howard Bostwick, Gustavo Stringel
BACKGROUND AND OBJECTIVES: Duplications of the alimentary tract are rare anomalies. We report our experience with foregut duplication cysts including their clinical presentation, diagnostic modalities, and surgical management. METHODS: We report a 20-year retrospective review of all foregut duplication cysts managed at our institution. RESULTS: Twelve patients with 13 foregut duplication cysts were identified. The ages of the children at the time of surgery ranged from infancy to adolescence, with a mean age of 7...
April 2017: JSLS: Journal of the Society of Laparoendoscopic Surgeons
https://www.readbyqxmd.com/read/28641749/congenital-diaphragmatic-hernia-the-role-of-multi-institutional-collaboration-and-patient-registries-in-supporting-best-practice
#12
Pamela A Lally, Erik D Skarsgard
Among congenital malformations, congenital diaphragmatic hernia (CDH) is distinguished by its relatively low occurrence rate, need for resource intensive, integrated multidisciplinary care, and widespread variation in practice and outcome. Although randomized controlled trials (RCTs) are considered the gold standard for generating evidence, they are poorly suited to the study of a condition like CDH due to challenges in illness severity adjustment, unpredictability in clinical course and the impact limitations of studying a single intervention at a time...
June 2017: Seminars in Pediatric Surgery
https://www.readbyqxmd.com/read/28638814/congenital-urogenital-abnormalities-in-children-with-congenital-hypothyroidism
#13
Parsa Yousefi Chaijan, Fatemeh Dorreh, Mojtaba Sharafkhah, Mohammad Amiri, Mohsen Ebrahimimonfared, Mohammad Rafeie, Fatemeh Safi
Background: Congenital hypothyroidism (CH), as one of the most common congenital endocrine disorders, may be significantly associated with congenital malformations. This study investigates urogenital abnormalities in children with primary CH (PCH). Methods: This case-control study was conducted on 200 children aged three months to 1 year, referred to Amir-Kabir Hospital, Arak, Iran. One hundred children with PCH, as the case group, and 100 healthy children, as the control group, were selected using convenient sampling...
2017: Medical Journal of the Islamic Republic of Iran
https://www.readbyqxmd.com/read/28638495/an-atypical-presentation-of-congenital-pulmonary-airway-malformation-cpam-a-rare-case-with-antenatal-ultrasound-findings-and-review-of-literature
#14
Munnangi Satya Gautam, Srinivas M Naren Satya, Ivvala Sai Prathyusha, K Hema Chandra Reddy, Kamala Retnam Mayilvaganan, Deepthi Raidu
BACKGROUND: Congenital pulmonary airway malformation (CPAM) is a relatively rare congenital anomaly with a wide spectrum of ultrasound features depending on the specific variety of CPAM. Antenatal ultrasound is a valuable, safe, nonionizing, cost-effective, widely available and easily reproducible imaging tool and is indispensable in the diagnosis of CPAM. In this paper, we aimed to report an atypical imaging presentation of CPAM type II in the second trimester, extensively involving all lobes of the left lung...
2017: Polish Journal of Radiology
https://www.readbyqxmd.com/read/28638133/the-agenetic-body-prosthetics-or-the-new-promethean-ideal
#15
Cristina Lindenmeyer
In our rapidly changing world, we are often encouraged to treat our bodies as objects of constant improvement by means of various facilities and innovations. As part of this "Promethean tendency," the present-day alliance between medicine and technology has opened up a new perspective on the ill and disabled body, by providing access to sophisticated prosthetics that are increasingly seen as ideal remedies. These devices allow patients to benefit from previously unimaginable treatments and inestimable scientific advances, yet they also create new forms of dependency that go beyond simply forming a habit...
September 2016: American Journal of Psychoanalysis
https://www.readbyqxmd.com/read/28637939/surgery-of-thymic-tumor-with-persistent-left-superior-vena-cava
#16
Masahiro Yanagiya, Jun Matsumoto, Hirotsugu Hashimoto, Yoshio Suzuki, Hajime Horiuchi
Because a persistent left superior vena cava (PLSVC) is a rare congenital malformation in the thoracic venous system, surgery of the thymus in such patients has rarely been reported. We herein present a case involving a 68-year-old woman who was treated for a thymic tumor adhering to a PLSVC. She underwent complete resection of the thymic tumor through median sternotomy with left-sided video-assisted thoracic surgery. Although the tumor was close to the left phrenic nerve, this nerve was safely preserved. The pathological diagnosis was mucosa-associated lymphoid tissue (MALT) lymphoma of the thymus...
June 22, 2017: Annals of Thoracic and Cardiovascular Surgery
https://www.readbyqxmd.com/read/28637614/classical-inherited-bone-marrow-failure-syndromes-with-high-risk-for-myelodysplastic-syndrome-and-acute-myelogenous-leukemia
#17
REVIEW
Sharon A Savage, Carlo Dufour
The inherited marrow failure syndromes (IBMFS) are a heterogeneous group of diseases characterized by failure in the production of one or more blood lineage. The clinical manifestations of the IBMFS vary according to the type and number of blood cell lines involved, including different combinations of anemia, leukopenia, and thrombocytopenia. In some IBMFS, systemic non-hematologic manifestations, including congenital malformations, mucocutaneous abnormalities, developmental delay, and other medical complications, may be present...
April 2017: Seminars in Hematology
https://www.readbyqxmd.com/read/28637106/-a-case-of-hemorrhage-of-an-esophageal-duplication-cyst-improved-by-endoscopic-drainage
#18
In Sub Han, Gwang Ha Kim, Seong Jun Lee, Bong Eun Lee, Hoseok I, Yeong Dae Kim
Esophageal duplication cyst is a rare congenital gastrointestinal malformation. It is the second most common duplication cyst following small bowel duplication cyst in the gastrointestinal tract. Patients with an esophageal duplication cyst are generally asymptomatic; however, some patients may present the following symptoms: dysphagia, chest pain, stridor, unproductive cough, and epigastric discomfort by compression of the surrounding structures. Surgical removal is the treatment of choice in symptomatic cases and can be considered in asymptomatic cases if they are at risk for developing complications, such as ulceration or perforation...
June 25, 2017: Korean Journal of Gastroenterology, Taehan Sohwagi Hakhoe Chi
https://www.readbyqxmd.com/read/28637056/-urosepsis-in-children
#19
Josef Oswald
Urinary tract infections (UTI) are the most common infectious diseases in children. Urosepsis in childhood, though rare, is the most complicated possible variant. In newborns and infants, unspecific symptoms are a significant barrier to a fast and reliable diagnosis, which is crucial to successful treatment. In addition to urine and laboratory tests as well as non-invasive examinations (ultrasound), there may be an indication for invasive examinations of the kidneys (DMSA scans) in cases of a severe infection...
June 21, 2017: Aktuelle Urologie
https://www.readbyqxmd.com/read/28636057/symmetrical-brachydactyly-in-a-dog
#20
Megan T Cray, Ursula Krotscheck, Anthony J Fischetti, Kim Tong
Congenital malformations of the canine manus and pes are infrequently reported in the veterinary literature. This includes brachydactyly which is a general term used to indicate the shortening of digits due to abnormal development of the phalanges, metacarpals, or metatarsals. This case report describes isolated brachydactyly in a one-year-old male Maremma Sheepdog affecting all of the phalanges, metacarpals, and metatarsals of digits two through five. This condition was confirmed by determining the length of each phalanx, metacarpal, and metatarsal of the affected dog as well as an unaffected littermate...
June 21, 2017: Veterinary and Comparative Orthopaedics and Traumatology: V.C.O.T
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