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https://www.readbyqxmd.com/read/28636476/an-intradural-subpial-lipoma
#1
Anouschka Cogen, Jozef Michielsen, Paul Van Schil, Johan Somville
Introduction - patients: Intradural lipomas are rare congenital tumors. A case of intradural lipoma in the absence of any congenital spinal anomalies is reported. Patient presented with spinal cord compression syndrome. Methods - results - conclusions: Treatment of this disorder is still controversial.
March 1, 2017: Acta Chirurgica Belgica
https://www.readbyqxmd.com/read/28635575/-high-risk-obstetrics-in-tertiary-centres-anaesthetist-hybrid-operating-suite-and-obstetric-critical-care-unit
#2
C D van der Marel, A J Eggink, R J Stolker
The frequency of pregnancy-related morbidity has increased over recent decades, as has the number of patients with complex congenital cardiac anomalies reaching fertile age, resulting in an increasing number of high-risk pregnancies. In order to optimalise maternal and foetal outcome in these patients, not only is the availability of optimal in-hospital facilities (e.g. obstetric critical care unit, hybrid operating suite) important, but also a multidisciplinary approach which is mandatory for successful maternal and foetal outcome...
2017: Nederlands Tijdschrift Voor Geneeskunde
https://www.readbyqxmd.com/read/28635200/unusual-symptomatic-late-onset-presentation-of-aberrant-right-subclavian-artery-report-of-two-cases-and-short-literature-review
#3
Yannis Dimitroglou, Ioannis Loulakas, Maria Chounti, Michail Megalakakis, Eleni Karavana, Panagiotis Hountis
Aberrant subclavian arteries are congenital vascular anomalies that usually do not cause any symptoms. When symptomatic they are considered as a rare cause of dysphagia. This presentation is known as dysphagia lusoria. They are diagnosed by barium swallow or contrast-enhanced computed tomography, although it may be an incidental finding. Management varies from life modifications and drug therapy to surgical intervention. We report two cases of the unusual form of late onset symptomatic presentation because of the presence of aberrant right subclavian artery...
May 18, 2017: Monaldi Archives for Chest Disease, Archivio Monaldi Per le Malattie del Torace
https://www.readbyqxmd.com/read/28633269/stenting-and-reimplanting-disconnected-pulmonary-artery-in-tetralogy-of-fallot
#4
Harikrishnan K N Kurup, Giedrius Baliulis, Marcus P Haw, Joseph J Vettukattil
Tetralogy of Fallot with absent pulmonary valve syndrome (TOF/APV) is a rare congenital malformation. Although pulmonary artery (PA) anomalies have been observed in TOF, its association with disconnected PA is extremely rare. We report successful stenting of the disconnected left PA in a 3-year-old boy with TOF/APV followed by surgical reimplantation. The significance of this transcatheter intervention for guidance during surgery and the importance of visualizing a ductal stump on angiography as an indicator of disconnected PA are discussed...
July 2017: Annals of Thoracic Surgery
https://www.readbyqxmd.com/read/28632892/maternal-overweight-and-obesity-and-genital-anomalies-in-male-offspring-a-population-based-swedish-cohort-study
#5
Linn Håkonsen Arendt, Cecilia Høst Ramlau-Hansen, Morten Søndergaard Lindhard, Tine Brink Henriksen, Jørn Olsen, Yongfu Yu, Sven Cnattingius
BACKGROUND: Overweight and obese pregnant women face higher risk of several critical birth outcomes, including an overall increased risk of congenital abnormalities. Only few studies have focused on associations between maternal overweight and the genital anomalies in boys, cryptorchidism and hypospadias, and results are inconclusive. METHODS: We performed a population-based cohort study and assessed the associations between maternal body mass index (BMI) in early pregnancy and occurrence of cryptorchidism and hypospadias...
June 20, 2017: Paediatric and Perinatal Epidemiology
https://www.readbyqxmd.com/read/28632651/imaging-in-adult-congenital-heart-disease
#6
Stephanie S Gaydos, Akos Varga-Szemes, Rochelle N Judd, Pal Suranyi, David Gregg
There has been tremendous growth in the population of adults with congenital heart disease (CHD) over the last few decades because of advances in medical care. Whereas some cases are cured during childhood, most patients instead undergo palliation, which leaves them at risk for late complications. Lifelong clinical follow-up involving serial multimodality imaging is helpful to monitor and guide the treatment of late complications. Imaging of these individuals is challenging because of their unique anatomy and therefore requires careful consideration on a case-by-case basis...
July 2017: Journal of Thoracic Imaging
https://www.readbyqxmd.com/read/28630847/hyperplasia-of-lamina-and-spinous-process-of-c5-vertebrae-and-associated-hemivertebra-at-c4-level
#7
Raja Rameez Farooqi, Mufti Mehmood, Hilal A Kotwal
INTRODUCTION: Congenital variants of the cervical spine may mimic traumatic lesions and may cause recurrent episodes of pain. The spectrum of cervical variants includes persistent apophyses of the transverse processes, persistent epiphyses, vertebral platyspondylia, vertebral hypoplasia, and dysplasia of the vertebral arch. Furthermore, abnormalities of the spinous process have been described including doubled spinous processes and hypertrophies. Unilateral hyperplasia of a spinous process is a rare finding that has only been described rarely as case reports...
January 2017: Journal of Orthopaedic Case Reports
https://www.readbyqxmd.com/read/28630544/pregnancies-and-fetal-anomalies-incompatible-with-life-in-chile-arguments-and-experiences-in-advocating-for-legal-reform
#8
Lidia Casas, Lieta Vivaldi
Chile allows abortion under no circumstances. Whether it's fetal anomaly incompatible with life or congenital malformation resulting in little or no life expectancy, all Chilean women are expected to carry their pregnancies to term. In this context, in January 2015 the Chilean Congress began debating a bill to legalize abortion on three grounds, including fatal congenital malformation. The medical community, including midwives, has presented its views for and against, especially on how the law may affect clinical practices; in addition, women, many of whom have experienced a fatal congenital malformation diagnosis, have weighed in...
June 2017: Health and Human Rights
https://www.readbyqxmd.com/read/28629280/absent-ductus-venosus-case-series-from-two-tertiary-centres
#9
Giuseppe Maria Maruotti, Gabriele Saccone, M D Andrea Ciardulli, Laura Letizia Mazzarelli, Vincenzo Berghella, M D Pasquale Martinelli
INTRODUCTION: Congenital absence of the ductus venosus (ADV) is a rare vascular anomaly often associated with fetal cardiac and extracardiac anomalies, aneuploidies, and hydrops. The prognosis depends on the patterns of abnormal venous circulation, on the associated malformations and on chromosomal aberrations. METHODS: We performed a retrospective audit of all consecutive cases with ADV referred in our centres and analysed the outcomes. RESULTS: A total of six cases with prenatally diagnosed ADV were identified...
June 19, 2017: Journal of Maternal-fetal & Neonatal Medicine
https://www.readbyqxmd.com/read/28627003/sonographic-screening-for-wilms-tumor-in-children-with-cloves-syndrome
#10
Caitlin M Peterman, R Dawn Fevurly, Ahmad I Alomari, Cameron C Trenor, Denise M Adams, Sophie Vadeboncoeur, Marilyn G Liang, Arin K Greene, John B Mulliken, Steven J Fishman
BACKGROUND: CLOVES syndrome is associated with somatic mosaic PIK3CA mutations and characterized by congenital lipomatous overgrowth, vascular malformations, epidermal nevi, and skeletal anomalies. Wilms tumor (WT) is a malignant embryonal renal neoplasm associated with hemihypertrophy and certain overgrowth disorders. After identifying WT in a child with CLOVES, we questioned whether ultrasonographic screening was necessary in these patients. METHODS: We retrospectively reviewed patients with CLOVES syndrome in our Vascular Anomalies Center at Boston Children's Hospital between 1998 and 2016 to identify those who developed WT...
June 19, 2017: Pediatric Blood & Cancer
https://www.readbyqxmd.com/read/28626825/phace-s-syndrome-report-of-a-case-with-new-ocular-and-systemic-manifestations
#11
Raheleh Assari, Vahid Ziaee, Sasan Moghimi, Mohammad Reza Akbari, Arash Mirmohammadsadeghi
PURPOSE: To describe an infant with PHACE(S) syndrome [posterior fossa anomalies (P), hemangiomas (H), arterial anomalies (A), cardiac abnormalities and coarctation of aorta (C), eye abnormalities (E), and the sternal defects (S)] with unusual strabismus, congenital glaucoma, and new systemic manifestations. METHODS: A 6-month-old girl was referred with large hemangiomas on the left side of the face. RESULTS: In the ocular examination, right esotropia and hypotropia, and limitation of elevation in adduction in the right eye were seen...
June 2017: Journal of Current Ophthalmology
https://www.readbyqxmd.com/read/28626639/a-non-mosaic-porcn-mutation-in-a-male-with-severe-congenital-anomalies-overlapping-focal-dermal-hypoplasia
#12
Simran Madan, Wei Liu, James T Lu, V Reid Sutton, Bryant Toth, Priscilla Joe, John R Waterson, Richard A Gibbs, Ignatia B Van den Veyver, Edward J Lammer, Philippe M Campeau, Brendan H Lee
Mutations in the PORCN gene cause the X-linked dominant condition focal dermal hypoplasia (FDH). Features of FDH include striated pigmentation of the skin, ocular and skeletal malformations. FDH is generally associated with in utero lethality in non-mosaic males and most of the currently reported male patients show mosaicism due to de novo post-zygotic mutations in the PORCN gene. There is only one previous report of a surviving male with an inherited mutation in the PORCN gene. Here, we report two male siblings with multiple malformations including skeletal, ocular and renal defects overlapping with FDH...
September 2017: Molecular Genetics and Metabolism Reports
https://www.readbyqxmd.com/read/28626412/congenital-bilateral-c2-transverse-foramina-stenosis-causing-adult-onset-vertebrobasilar-insufficiency-and-posterior-circulation-stroke
#13
Ajeet Gordhan, Catherine Lockhart
Vertebrobasilar insufficiency leading to posterior circulation infarcts caused by congenital hypoplasia of the bilateral transverse foramina at the C2 level, affecting the caliber and flow of the bilateral distal cervical vertebral arteries in an adult, has not been previously reported. A 41-year-old male presented with episodic dizziness for a period of 1 year prior to consultation. Computed tomography angiography of the head and neck demonstrated congenital hypoplasia of the bilateral C2 transverse foramina, with absence of the vertebral arteries in each of the foramina and collateral reconstitution of diminutive intracranial vertebral artery segments...
May 2017: Case Reports in Neurology
https://www.readbyqxmd.com/read/28626378/partial-hepatectomy-with-middle-hepatic-vein-reconstruction-using-a-left-inferior-vena-cava-graft
#14
Yusuke Kawamoto, Yusuke Ome, Kazuyuki Kawamoto
Duplicated inferior vena cava (IVC) is a rare congenital anomaly. We describe the utility of a new graft from the left IVC in a patient with duplicated IVC for reconstructing the middle hepatic vein (MHV) after partial hepatectomy with MHV resection. A 67-year-old woman with hepatitis C was found to have a liver tumor. Magnetic resonance imaging confirmed that the tumor, which was attached to the MHV, was hepatocellular carcinoma. Central bisectionectomy (S4, S5, and S8 resection) could not be tolerated because of poor liver function and a low future liver remnant volume...
May 2017: Case Reports in Gastroenterology
https://www.readbyqxmd.com/read/28623517/nerve-root-anomalies-making-sense-of-a-complicated-literature
#15
REVIEW
Cameron K Schmidt, Tarush Rustagi, Fernando Alonso, Marios Loukas, Jens R Chapman, Rod J Oskouian, R Shane Tubbs
INTRODUCTION: Nerve root anomalies (NRAs) are a set of well-described congenital irregularities for which several classification systems have been devised over the years. CONCLUSION: This comprehensive review examines the anatomy and characteristics of NRAs; their surgical, radiographic, and cadaveric prevalence rates; clinical and radiographic presentations; and surgical management. In addition, the top 5 NRA classification systems are presented and related.
June 16, 2017: Child's Nervous System: ChNS: Official Journal of the International Society for Pediatric Neurosurgery
https://www.readbyqxmd.com/read/28622309/eyelid-and-fornix-reconstruction-in-abortive-cryptophthalmos-a-single-center-experience-over-12-years
#16
J Ding, Z Hou, Y Li, N Lu, D Li
PurposeAbortive cryptophthalmos is a rare congenital eyelid anomaly with poor prognosis for vision and cosmesis. The study aims to present its varied manifestations and surgical outcomes.Patients and methodsThe medical records of patients with abortive cryptophthalmos treated at the Oculoplastic Clinic of Beijing Tongren Hospital between January 2004 and May 2016 were reviewed. Early surgical intervention was performed when exposure keratopathy occurs. Upper eyelid and superior fornix were mainly reconstructed with sliding myocutaneous flap and scleral and amniotic grafts...
June 16, 2017: Eye
https://www.readbyqxmd.com/read/28620733/management-of-congenital-diaphragmatic-hernia-in-newborn-paradigm-shift-and-ethical-issues
#17
Sushmita Nitin Bhatnagar, Yogesh Kumar Sarin
Management of congenital diaphragmatic hernia (CDH) begins soon after it is detected, whether antenatally or postnatally. Assessment of the severity of the condition, associated congenital anomalies, maternal health and related issues, weight of the fetus/baby, mode of delivery, timing of delivery, immediate appropriate management of the baby with CDH at birth, appropriate utilization of available treatment modalities as well as infrastructure of the treating institute have an impact on the outcome of the neonate...
June 16, 2017: Indian Journal of Pediatrics
https://www.readbyqxmd.com/read/28618149/sudden-cardiac-death-in-the-young-epidemiology-and-overview
#18
Mark S Link
Sudden cardiac death (SCD), particularly in the young athlete, is a rare though devastating event for families, institutions, and communities at large. It can also affect the nonathlete and occur at rest, although most commonly associated with exercise activities and/or sports participation. Common causes of SCD include cardiomyopathies, particularly hypertrophic cardiomyopathy in the United States, congenital coronary artery anomalies, channelopathies, among others. This report will explore an overview of the prevalence and causes of SCD in the young...
June 15, 2017: Congenital Heart Disease
https://www.readbyqxmd.com/read/28617257/do-italian-pregnant-women-use-periconceptional-folate-supplementation
#19
Alice Maraschini, Paola D'Aloja, Ilaria Lega, Marta Buoncristiano, Ursula Kirchmayer, Martina Ventura, Serena Donati
INTRODUCTION: Deficiency of folic acid (FA) has been identified as a risk factor for neural tube defects (NTDs) as well as other congenital anomalies. Thus, periconceptional folate supplementation is recommended for all women planning to get pregnant. METHODS: We conducted a KAP (knowledge, attitude, practice) survey to investigate the use of FA and its appropriateness. The survey included a sample of 562 women who delivered in the Lazio region between 2013 and 2014...
April 2017: Annali Dell'Istituto Superiore di Sanità
https://www.readbyqxmd.com/read/28617177/discordant-anomalies-with-combined-features-of-pentalogy-of-cantrell-and-oeis-complex-a-case-report-in-monochorionic-twins
#20
Nique Kunapinun, Jitsupa Treetipsatit
INTRODUCTION: Ventral body wall defects have various manifestations. Among others, pentalogy of Cantrell (PC) and omphalocele exstrophy imperforate anus spinal abnormalities (OEIS) complex are defects that involve upper and lower anterior midline of body wall, respectively. Although both entities are in a spectrum of ventral body wall defects, the combination of PC and OEIS complex has not been described. CASE REPORT: In this report, we describe an unusual case of congenital ventral body wall defect with combined features of PC and OEIS complex, which discordantly occurred in monochorionic monoamniotic twins...
June 15, 2017: Fetal and Pediatric Pathology
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