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congenital anomalies

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https://www.readbyqxmd.com/read/28221263/use-of-model-based-iterative-reconstruction-to-improve-detection-of-congenital-cardiovascular-anomalies-in-infants-undergoing-free-breathing-computed-tomographic-angiography
#1
Seth Kligerman, Ferdia Bolster, Jason Mitchell, Travis Henry, Jean Jeudy, Charles S White
PURPOSE: The aim of the study was to assess the detection of congenital cardiovascular anomalies (congenital heart disease) in neonates and infants using model-based iterative reconstruction (MBIR) algorithm compared with hybrid iterative reconstruction (HIR) and filtered back projection (FBP) reconstructions on axial computed tomography (CT) performed at minimum scanner dose. MATERIALS AND METHODS: Over 1 year, all CT angiographies performed in infants below 3 months of age with congenital heart disease were assessed retrospectively...
March 2017: Journal of Thoracic Imaging
https://www.readbyqxmd.com/read/28219755/a-congenital-diverticulum-of-the-left-ventricular-apex-manifested-by-stroke-and-recurrent-ventricular-tachycardia
#2
Gabriela Dostálová, Tomáš Paleček, Petr Kuchynka, Štěpán Havránek, Martin Mašek, Zuzana Hlubocká, Debora Karetová, Dan Wichterle, Jaroslava Dušková, Jaroslav Lindner, Aleš Linhart
Ventricular outpouchings include acquired abnormalities (aneurysms and pseudoaneurysms) and congenital ventricular diverticula (CVD). CVD represent rare cardiac pathologies. Although CVD is often associated with other cardiac and extracardiac congenital anomalies, it can also be incidentally observed in otherwise healthy subjects. CVD may lead to significant morbidity and even have lethal consequences. We describe a case of arrhythmogenic left ventricle (LV) apical CVD revealed by cardiac magnetic resonance imaging (CMRI) after being initially overlooked by echocardiography...
February 4, 2017: Cardiovascular Pathology: the Official Journal of the Society for Cardiovascular Pathology
https://www.readbyqxmd.com/read/28218773/risk-factors-for-birth-defects
#3
Benjamin S Harris, Katherine C Bishop, Hanna R Kemeny, Jennifer S Walker, Eleanor Rhee, Jeffrey A Kuller
Importance: Major congenital abnormalities, or birth defects, carry significant medical, surgical, cosmetic, or lifestyle consequences. Such abnormalities may be syndromic, involving multiple organ systems, or can be isolated. Overall, 2% to 4% of live births involve congenital abnormalities. Risk factors for birth defects are categorized as modifiable and nonmodifiable. Modifiable risk factors require thorough patient education/counseling. The strongest risk factors, such as age, family history, and a previously affected child, are usually nonmodifiable...
February 2017: Obstetrical & Gynecological Survey
https://www.readbyqxmd.com/read/28218561/scandcleft-randomised-trials-of-primary-surgery-for-unilateral-cleft-lip-and-palate-3-descriptive-study-of-postoperative-nursing-care-following-first-stage-cleft-closure
#4
Patricia Bannister, Nina Lindberg, Karin Jeppesen, Ulla Elfving-Little, Ann-Margritt Semmingsen, Anna Paganini, Annica Gustavsson, Emma Slevin, Gry Jacobsen, Phil Eyres, Gunvor Semb
BACKGROUND: Cleft lip and palate is one of the most common congenital anomalies requiring surgical treatment in children, normally commenced in the first year of life. Following the initiation of a group of multicentre surgical trials of primary surgery, variations in postoperative recovery and management became apparent. An agreement was made for a nurse-led survey in eight surgical centres to document postoperative care and recovery. MATERIALS AND METHODS: A postoperative recovery clinical report form was developed to capture relevant data for the children participating in the four arms of the trials...
February 2017: Journal of Plastic Surgery and Hand Surgery
https://www.readbyqxmd.com/read/28217386/true-oblique-axis-fracture-associated-with-congenital-anomalies-of-the-upper-cervical-spine-case-report-of-an-unusual-fracture-pattern
#5
Luis A Robles
BACKGROUND: Acute traumatic axis fractures are common cervical spine injuries often caused by road accidents or falls. They are usually classified into three different types, namely, odontoid fractures, Hangman's fractures, and miscellaneous fractures. Congenital malformations of the craniovertebral junction (CVJ), although typically asymptomatic, may result in neural compression or instability, especially following trauma. Here, the authors present an unusual oblique axis fracture occurring in conjunction with several malformations of the upper cervical spine...
2017: Surgical Neurology International
https://www.readbyqxmd.com/read/28217159/managing-tracheal-extubation-in-infants-with-stridor-and-congenital-neuraxial-anomalies
#6
Deepti Saigal, Pragati Ganjoo, Megha U Sharma, Daljit Singh
Stridor is a serious complication of congenital neuraxial anomalies, which though, can get completely resolved with early neurosurgical correction of the anomaly. However, stridor relief may or may not be achieved soon after surgery. Persistent postoperative stridor can potentially cause extubation failure that may be difficult to handle in small children. There are no extubation guidelines for difficult pediatric airways as yet, and fewer appropriate airway-assist devices for routine use. Management of an infant with occipital encephalocele, hydrocephalus and bilateral abductor vocal cord palsy, who developed post-extubation respiratory distress due to stridor is discussed, together with the relevant tracheal extubation issues in such cases...
October 2016: Journal of Pediatric Neurosciences
https://www.readbyqxmd.com/read/28216916/a-rare-case-of-46-xx-gonadal-dysgenesis-and-mayer-rokitansky-kuster-hauser-syndrome
#7
Sriharibabu Manne, C H Veeraabhinav, Mounica Jetti, Yalamanchali Himabindu, Kiranmai Donthu, Mutyalarayudu Badireddy
46,XX gonadal dysgenesis is a rare genetically heterogeneous disorder characterized by underdeveloped ovaries with consequent, impuberism, primary amenorrhea, and hypergonadotropic hypogonadism. Mullerian agenesis or Mayer-Rokitansky-Kuster-Hauser (MRKH) syndrome is characterized by congenital aplasia of the uterus and the upper part (2/3) of the vagina in a woman with normal development of secondary sexual characteristics and a normal 46,XX karyotype. The phenotypic manifestations of MRKH syndrome may sometimes overlap with various other syndromes and require accurate delineation...
October 2016: Journal of Human Reproductive Sciences
https://www.readbyqxmd.com/read/28216829/cross-sectional-study-of-epidemiology-of-congenital-anomaly-of-the-hand-in-a-tertiary-care-centre-in-india-over-1-year
#8
Nikunj B Mody, Shankar Srinivasan, Mukund Thatte
No abstract text is available yet for this article.
September 2016: Indian Journal of Plastic Surgery: Official Publication of the Association of Plastic Surgeons of India
https://www.readbyqxmd.com/read/28215457/synchronous-ipsilateral-cavernous-malformations-of-the-trochlear-nerve
#9
Christopher S Graffeo, William R Copeland, Perkins Mukunyadzi, Ali F Krisht
BACKGROUND: Cranial nerve cavernous malformations (CM) are rare benign congenital vascular anomalies, with approximately 44 preceding cases in the literature. We report the fifth case of trochlear CM, as well as the first instance of two discrete CM occurring simultaneously along the same cranial nerve. METHODS: Case report. RESULTS: A fifty-seven year-old man presented with several years of diplopia; physical examination identified a complete left trochlear nerve paralysis...
February 16, 2017: Journal of Clinical Neuroscience: Official Journal of the Neurosurgical Society of Australasia
https://www.readbyqxmd.com/read/28215177/cutaneous-changes-in-neonates-in-the-first-72-hours-of-birth-an-observational-study
#10
Nayantara R Gandra, Harshita B Reddy, Tina P Katta
BACKGROUND: Variation in neonatal skin changes and presentation is a frequent occurrence. We studied the pattern of cutaneous manifestations in new-borns <72 hours of birth. METHOD: We included all live babies delivered in our hospital; Babies were categorised according to age, birth weight and gestational age. Neonates were examined within 24 hrs of birth and daily for skin lesions for 72 hrs. Skin lesions were categorised into physiological, transient eruptions, due to infections, congenital anomalies and miscellaneous...
February 16, 2017: Current Pediatric Reviews
https://www.readbyqxmd.com/read/28214832/the-burden-of-respiratory-disease-in-very-low-birth-weight-infants-changes-in-perinatal-care-and-outcomes-in-a-decade-in-spain
#11
Fermín García-Muñoz Rodrigo, Antonio Losada Martínez, María Dolores Elorza Fernández, Julio Moreno Hernando, Josep Figueras Aloy, Máximo Vento Torres
BACKGROUND: Advances in perinatal care have led to a significant reduction in morbidity and mortality among very-low-birth-weight (VLBW) infants. Much of this progress is related to the prevention and management of respiratory disease. OBJECTIVES: To evaluate changes in perinatal care and its influence on respiratory morbidity and mortality among VLBW infants in Spain in 2 consecutive periods (2002-2006 and 2007-2011). METHODS: This is a retrospective analysis of data prospectively collected of all VLBW infants included in the Spanish SEN1500 network...
February 18, 2017: Neonatology
https://www.readbyqxmd.com/read/28213856/inferior-vena-cava-system-anomalies-surgical-implications
#12
REVIEW
Javier González, Jeffrey J Gaynor, Luis F Albéniz, Gaetano Ciancio
PURPOSE OF REVIEW: The inferior vena cava (IVC) system is the major venous collecting blood network of the human body. This structure is formed in a complicated series of developmental stages between the fourth and eighth weeks of intrauterine life. Alterations in the developing process of the IVC system give rise to an array of different congenital variants or developmental anomalies. RECENT FINDINGS: IVC anomalies are uncommon, usually of little physiological consequence, and mostly discovered incidentally during cross-sectional imaging in otherwise healthy individuals...
February 2017: Current Urology Reports
https://www.readbyqxmd.com/read/28212920/neonatal-lupus-follow-up-in-infants-with-anti-ssa-ro-antibodies-and-review-of-the-literature
#13
REVIEW
Antonio Alberto Zuppa, Riccardo Riccardi, Simonetta Frezza, Francesca Gallini, Rita Maria Paola Luciano, Giovanni Alighieri, Costantino Romagnoli, Sara De Carolis
Neonatal Lupus Syndrome (NLS) is a distinct clinical entity caused by transplacental passage of maternal anti-SSA/Ro antibodies (Ab). Mothers may have systemic lupus erythematosus, Sjögren syndrome, or other connective tissue disease, or may be completely healthy at the time of giving birth. NLS includes several clinical manifestations: complete congenital heart block (CCHB) and cutaneous lupus are the most common, while hepatobiliary disease, hematological manifestations and central nervous system involvement may occur...
February 14, 2017: Autoimmunity Reviews
https://www.readbyqxmd.com/read/28211984/prenatal-diagnosis-of-inverted-duplication-deletion-8p-syndrome-mimicking-trisomy-18
#14
Mehmet Ozgur Akkurt, Amanda Higgs, Ozerk T Turan, Ozhan M Turan, Sifa Turan
Inverted duplication deletion of 8p (invdupdel[8p]) is a well-described and uncommon chromosomal rearrangement. The majority of the reported cases have revealed no life-threatening malformations. Although the invdupdel[8p] syndrome in children with central nervous system abnormalities has been reported before, we present the first prenatal microarray diagnosis of invdupdel[8p] syndrome mimicking trisomy 18 due to similar sonographic features. Contrary to reported cases with invdupdel[8p] syndrome, the present case had severe polyvalvular dysplasia and the infant deceased at day 12 of life...
March 2017: American Journal of Medical Genetics. Part A
https://www.readbyqxmd.com/read/28211980/constitutional-bone-impairment-in-noonan-syndrome
#15
Giuseppina Baldassarre, Alessandro Mussa, Diana Carli, Cristina Molinatto, Giovanni Battista Ferrero
Noonan syndrome (NS) is an autosomal dominant trait characterized by genotypic and phenotypic variability. It belongs to the Ras/MAPK pathway disorders collectively named Rasopathies or neurocardiofaciocutaneous syndromes. Phenotype is characterized by short stature, congenital heart defects, facial dysmorphisms, skeletal and ectodermal anomalies, cryptorchidism, mild to moderate developmental delay/learning disability, and tumor predisposition. Short stature and skeletal dysmorphisms are almost constant and several studies hypothesized a role for the RAS pathway in regulating bone metabolism...
March 2017: American Journal of Medical Genetics. Part A
https://www.readbyqxmd.com/read/28211131/congenital-diaphragmatic-hernia-outcomes-of-neonates-treated-at-mayo-clinic-with-and-without-extracorporeal-membrane-oxygenation
#16
Katarina Bojanić, Jason M Woodbury, Alexandre N Cavalcante, Ruža Grizelj, Garth F Asay, Christopher E Colby, William A Carey, Gregory J Schears, Toby N Weingarten, Darrell R Schroeder, Juraj Sprung
BACKGROUND: Congenital diaphragmatic hernia (CDH) is a rare anomaly with high mortality and long-term comorbid conditions. AIMS: Our aim was to describe the presenting characteristics, treatment, and outcomes of consecutive patients with CDH treated at our institution. METHODS: We performed a retrospective cohort study and identified consecutive neonates treated for CDH from 2001 to 2015 at our institution. For all patients identified, we reviewed hospital and postdischarge data for neonatal, disease, and treatment characteristics...
March 2017: Paediatric Anaesthesia
https://www.readbyqxmd.com/read/28209013/identifying-aarskog-syndrome
#17
Anis Ahmed, Abdullah Mufeed, Ashir Kolikkal Ramachamparambathu, Umer Hasoon
Aarskog syndrome also known as Aarskog-Scott Syndrome, Facio-digito-genital Syndrome or Faciogenital Dysplasia is a rare, X-linked disorder predominantly affecting males, characterized by facial, skeletal and genital anomalies. This is a case report of a 15-year-old male patient who visited our college complaining of poor facial aesthetics. History revealed consanguinity and his sibling to be suffering from the same. A diagnosis of Aarskog syndrome was made based upon the detailed patient history, thorough clinical evaluation and identification of characteristic findings in radiographs...
December 2016: Journal of Clinical and Diagnostic Research: JCDR
https://www.readbyqxmd.com/read/28207469/sequence-of-surgical-reconstruction-in-a-child-with-cleft-lip-and-palate-associated-with-congenital-facial-teratomas
#18
Oswaldo J Gómez Díaz, Mario D Cruz Sánchez
We describe a case of left homolateral complete cleft lip/palate associated with a congenital left maxillary teratoma and left orbital teratoma. The patient required step-by-step reconstruction that first included resection of the 2 teratomas in consideration of cleft lip repair, cleft palate repair, and correction of the left periorbital anomalies, which were performed later. After performing all the necessary procedures, complete resection of the tumors and correction of the anomalies associated with the lip, palate, and left orbit were achieved...
February 15, 2017: Journal of Craniofacial Surgery
https://www.readbyqxmd.com/read/28207433/long-term-clinical-course-in-eyes-with-peters-anomaly
#19
Haruna Yoshikawa, Chie Sotozono, Yoko Ikeda, Kazuhiko Mori, Morio Ueno, Shigeru Kinoshita
PURPOSE: Peters anomaly (PA) is known to be a primary cause of congenital corneal opacity. The aim of this study is to report the long-term clinical course and visual achievement of patients with PA who did not undergo keratoplasty. METHODS: This retrospective study involved 15 eyes of 9 infants with PA less than 5 months of age at initial presentation at the Kyoto Prefectural University of Medicine who were followed up without keratoplasty for more than 6 years after presentation...
February 15, 2017: Cornea
https://www.readbyqxmd.com/read/28203575/ebstein-anomaly-with-qrs-fragmentation-on-electrocardiogram
#20
Prakash Acharya, Jonathan Ross Ang, Bernard Gitler
Ebstein anomaly is a rare congenital disorder that involves the tricuspid valve and the right ventricle. It is associated with interatrial communication, which allows for paradoxical embolization causing unilateral blindness. Abnormal conduction through the atrialized right ventricle leads to QRS fragmentation on electrocardiogram. Its presence suggests a more severe abnormality and a higher risk of arrhythmia. The QRS fragmentation disappears after corrective surgery with resection of the atrialized right ventricle...
January 2017: Journal of Investigative Medicine High Impact Case Reports
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