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Congenital defects

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https://www.readbyqxmd.com/read/28106958/warden-procedure-for-correction-of-sinus-venosus-atrial-septal-defect-and-partial-anomalous-pulmonary-venous-connection
#1
Michael Hofmann, Hitendu Dave Hitendu Dave, Martin Schmiady, Michael Hbler
A superior sinus venosus defect is a congenital cardiac disease which is commonly associated with partial anomalous pulmonary venous connection. Here we present the Warden procedure - our preferred technique for repair. Our goal is to highlight the principles of repair with a focus on critical aspects of the surgical technique.
December 9, 2016: Multimedia Manual of Cardiothoracic Surgery: MMCTS
https://www.readbyqxmd.com/read/28106696/use-of-acellular-dermal-matrix-in-treatment-of-congenital-muscular-torticollis-in-patients-over-eight-years-of-age
#2
Hyung Min Hahn, Kyung Hoon Cook, Il Jae Lee, Dong Ha Park, Myong Chul Park
BACKGROUND: Treatment for neglected or recurred congenital muscular torticollis should be differentiated from primary patients due to the long-standing adjacent tissue contracture. The aim of this study was to evaluate the effect of acellular dermal matrix (ADM) on surgery of recurred and neglected patients of congenital muscular torticollis. METHODS: Forty-nine patients were included in the study. All patients underwent resection at the distal end of the sternocleidomastoid muscle...
January 18, 2017: Journal of Craniofacial Surgery
https://www.readbyqxmd.com/read/28106524/the-utility-of-3d-printing-for-surgical-planning-and-patient-specific-implant-design-for-complex-spinal-pathologies-case-report
#3
Ralph J Mobbs, Marc Coughlan, Robert Thompson, Chester E Sutterlin, Kevin Phan
OBJECTIVE There has been a recent renewed interest in the use and potential applications of 3D printing in the assistance of surgical planning and the development of personalized prostheses. There have been few reports on the use of 3D printing for implants designed to be used in complex spinal surgery. METHODS The authors report 2 cases in which 3D printing was used for surgical planning as a preoperative mold, and for a custom-designed titanium prosthesis: one patient with a C-1/C-2 chordoma who underwent tumor resection and vertebral reconstruction, and another patient with a custom-designed titanium anterior fusion cage for an unusual congenital spinal deformity...
January 20, 2017: Journal of Neurosurgery. Spine
https://www.readbyqxmd.com/read/28106514/endonasal-management-of-pediatric-congenital-transsphenoidal-encephaloceles-nuances-of-a-modified-reconstruction-technique-technical-note-and-report-of-3-cases
#4
Mehdi Zeinalizadeh, Seyed Mousa Sadrehosseini, Zohreh Habibi, Farideh Nejat, Harley Brito da Silva, Harminder Singh
OBJECTIVE Congenital transsphenoidal encephaloceles are rare malformations, and their surgical treatment remains challenging. This paper reports 3 cases of transsphenoidal encephalocele in 8- to 24-month-old infants, who presented mainly with airway obstruction, respiratory distress, and failure to thrive. METHODS The authors discuss the surgical management of these lesions via a minimally invasive endoscopic endonasal approach, as compared with the traditional transcranial and transpalatal approaches. A unique endonasal management algorithm for these lesions is outlined...
January 20, 2017: Journal of Neurosurgery. Pediatrics
https://www.readbyqxmd.com/read/28106045/identification-of-shared-and-unique-gene-families-associated-with-oral-clefts
#5
Noriko Funato, Masataka Nakamura
Oral clefts, the most frequent congenital birth defects in humans, are multifactorial disorders caused by genetic and environmental factors. Epidemiological studies point to different etiologies underlying the oral cleft phenotypes, cleft lip (CL), CL and/or palate (CL/P) and cleft palate (CP). More than 350 genes have syndromic and/or nonsyndromic oral cleft associations in humans. Although genes related to genetic disorders associated with oral cleft phenotypes are known, a gap between detecting these associations and interpretation of their biological importance has remained...
January 20, 2017: International Journal of Oral Science
https://www.readbyqxmd.com/read/28106023/robotic-surgery-for-atrial-septal-defect-closure-in-a-case-of-kabuki-syndrome
#6
Burak Onan, Ünal Aydın, Zeynep Kahraman, İhsan Bakır
Kabuki syndrome is a rare congenital malformation syndrome characterized by mental retardation, skeletal deformities, auditory dysfunction, cardiac defects, and distinctive facial appearance. Although complex cardiovascular malformations present in early childhood, rarely, atrioventricular septal defects may also present in young adults. Presently described is case of a 22-year-old female with KS who presented with ostium secundum atrial septal defect with deficient rim and idiopathic thrombocytopenic purpura...
January 2017: Türk Kardiyoloji Derneği Arşivi: Türk Kardiyoloji Derneğinin Yayın Organıdır
https://www.readbyqxmd.com/read/28104788/myo18b-is-essential-for-sarcomere-assembly-in-fast-skeletal-muscle
#7
Joachim Berger, Silke Berger, Mei Li, Peter D Currie
Congenital myopathies are muscle degenerative disorders with a broad clinical spectrum. A number of myopathies have been associated with molecular defects within sarcomeres, the force-generating component of the muscle cell. Whereas the highly regular organization of the myofibril has been studied in detail, in vivo assembly of sarcomeres remains a poorly understood process. Therefore, a more detailed knowledge of sarcomere assembly is crucial to better understand the pathogenic mechanisms within myopathies...
January 18, 2017: Human Molecular Genetics
https://www.readbyqxmd.com/read/28103463/-uterine-rupture-at-18-weeks-of-pregnancy-in-the-context-of-malformed-uterus
#8
Emídio Vale-Fernandes, Neusa Teixeira, Alexandra Cadilhe, Maria José Rocha
Birth defects of the female genital tract are relatively common and often asymptomatic. Despite the pregnancy outcome can be favorable, adverse obstetric outcomes are described in women with uterine malformations. The authors report the case of an obstetric emergency which enhances the possibility of a very adverse and rare outcome of uterine rupture in a left hemi-cavity of a bicornuate uterus away from the term, at 18 weeks of pregnancy, in a pregnant woman with history of caesarean in the right hemi-cavity and with placenta increta...
October 2016: Acta Médica Portuguesa
https://www.readbyqxmd.com/read/28103457/-congenital-heart-disease-in-children-with-down-syndrome-what-has-changed-in-the-last-three-decades
#9
Filipa Mestre Dias, Susana Cordeiro, Isabel Menezes, Graça Nogueira, Ana Teixeira, Marta Marques, Miguel Abecasis, Rui Anjos
INTRODUCTION: The prevalence of Down syndrome has increased in the last 30 years; 55% of these children have congenital heart disease. MATERIAL AND METHODS: A retrospective longitudinal cohort study; clinical data from 1982 to 2013 databases with the diagnosis of Down syndrome or trisomy 21 in a reference hospital in pediatric cardiology and cardiac surgery. OBJECTIVE: to assess the progress in the last three decades of cardiological care given to children with Down syndrome and congenital heart disease...
October 2016: Acta Médica Portuguesa
https://www.readbyqxmd.com/read/28101909/efficient-transdifferentiation-of-human-dermal-fibroblasts-into-skeletal-muscle
#10
Selwa Mokhtar Boularaoui, Khaled M A Abdel-Raouf, Noaf Salah Ali Alwahab, Megan E Kondash, George A Truskey, Jeremy Choon Meng Teo, Nicolas Christoforou
Skeletal muscle holds significant regenerative potential but is incapable of restoring tissue loss caused due to severe injury, congenital defects, or tumor ablation. Consequently, skeletal muscle models are being developed to study human pathophysiology and regeneration. Their physiological accuracy, however, is hampered by the lack of an easily accessible human cell source that is readily expandable and capable of efficient differentiation. MYOD1, a master gene regulator, induces transdifferentiation of a variety of cell types into skeletal muscle, although inefficiently in human cells...
January 18, 2017: Journal of Tissue Engineering and Regenerative Medicine
https://www.readbyqxmd.com/read/28101777/comorbidities-in-down-syndrome-livebirths-and-health-care-intervention-an-initial-experience-from-the-birth-defects-registry-in-southern-thailand
#11
Somchit Jaruratanasirikul, Wannee Limpitikul, Pathikan Dissaneevate, Paveena Booncharoen, Pongsak Tantichantakarun
BACKGROUND: Down syndrome (DS) is the most common chromosomal disorder causing mental retardation with a worldwide average prevalence of 1-2 cases per 1000 births. This study aimed to determine the comorbidities associated with DS and the coverage of health care services and developmental interventions for DS livebirths in southern Thailand. METHODS: A total of 149 livebirth DS infants, recruited through the prospective birth defects registry system during 2009-2013 in 3 provinces in southern Thailand, were regularly followed-up every 3-6 months...
January 19, 2017: World Journal of Pediatrics: WJP
https://www.readbyqxmd.com/read/28101427/dynamic-imaging-and-quantitative-analysis-of-cranial-neural-tube-closure-in-the-mouse-embryo-using-optical-coherence-tomography
#12
Shang Wang, Monica D Garcia, Andrew L Lopez, Paul A Overbeek, Kirill V Larin, Irina V Larina
Neural tube closure is a critical feature of central nervous system morphogenesis during embryonic development. Failure of this process leads to neural tube defects, one of the most common forms of human congenital defects. Although molecular and genetic studies in model organisms have provided insights into the genes and proteins that are required for normal neural tube development, complications associated with live imaging of neural tube closure in mammals limit efficient morphological analyses. Here, we report the use of optical coherence tomography (OCT) for dynamic imaging and quantitative assessment of cranial neural tube closure in live mouse embryos in culture...
January 1, 2017: Biomedical Optics Express
https://www.readbyqxmd.com/read/28100981/isolated-left-subclavian-artery-complete-atrioventricular-block-and-tricuspid-atresia-in-a-neonate
#13
Kanupriya Chaturvedi, Deepa Prasad, Ravi Ashwath, James P Strainic, Christopher S Snyder
Isolated left subclavian artery is one of the rarer aortic arch anomalies. It has been associated with other congenital heart diseases, typically tetralogy of Fallot, double-outlet right ventricle, and atrial and ventricular septal defects. Its significant clinical implications include a left-to-right shunt from the vertebrobasilar system, which causes pulmonary overcirculation and subclavian steal. We present an unusual case of a premature infant who was diagnosed prenatally with congenital complete atrioventricular block and tricuspid atresia and was found to have an isolated left subclavian artery postnatally...
December 2016: Texas Heart Institute Journal
https://www.readbyqxmd.com/read/28100980/accessory-mitral-valve-leaflet-causing-severe-left-ventricular-outflow-tract-obstruction-in-a-preterm-neonate-with-a-partial-atrioventricular-septal-defect
#14
J Kevin Wilkes, Charles D Fraser, Thomas J Seery
Atrioventricular septal defects represent a class of congenital cardiac malformations that vary in presentation and management strategy depending upon the severity of the particular lesions present. We present the case of a premature neonate who had a partial atrioventricular septal defect and an accessory mitral (or left atrioventricular) valve leaflet. The latter caused severe left ventricular outflow tract obstruction and severely depressed left ventricular function. We found only one other report of this atrioventricular valve abnormality in association with atrioventricular septal defect...
December 2016: Texas Heart Institute Journal
https://www.readbyqxmd.com/read/28100662/zika-virus-causes-supernumerary-foci-with-centriolar-proteins-and-impaired-spindle-positioning
#15
Benita Wolf, Fodé Diop, Pauline Ferraris, Sineewanlaya Wichit, Coralie Busso, Dorothée Missé, Pierre Gönczy
Zika virus (ZIKV) causes congenital microcephaly. Although ZIKV can impair cell cycle progression and provoke apoptosis, which probably contributes to disease aetiology through depletion of neural progenitor cells, additional cellular mechanisms may be important. Here, we investigated whether ZIKV infection alters centrosome number and spindle positioning, because such defects are thought to be at the root of inherited primary autosomal recessive microcephaly (MCPH). In addition to HeLa cells, in which centrosome number and spindle positioning can be well monitored, we analysed retinal epithelial cells (RPE-1), as well as brain-derived microglial (CHME-5) and neural progenitor (ReN) cells, using immunofluorescence...
January 2017: Open Biology
https://www.readbyqxmd.com/read/28100569/multiple-pregnancy-in-a-primigravida-with-uncorrected-pentalogy-of-fallot
#16
Pamela Partana, Jarrod Kah Hwee Tan, Ju Le Tan, Lay Kok Tan
Pentalogy of Fallot is a cyanotic congenital heart disease that has guarded prognosis without surgical intervention in infancy. Women with uncorrected defects rarely survive into childbearing age and pregnancy in this group is associated with a high rate of perinatal loss. Physiological cardiovascular changes in pregnancy can lead to maternal haemodynamic instability with subsequent adverse cardiac sequelae with or without fetal decompensation. Optimum management and pregnancy outcomes in mother with uncorrected Pentalogy of Fallot and twin pregnancy have not been described in the literature...
January 18, 2017: BMJ Case Reports
https://www.readbyqxmd.com/read/28100381/-trend-of-mortality-of-congenital-malformation-in-children-aged-5-years-in-beijing-2006-2015
#17
J Wang, D Y Li, W X Zhang, Y C Li, J Wang
Objective: To investigate the change in mortality of congenital malformation in children aged <5 years in Beijing from 2006 to 2015. Methods: Using the death surveillance data in children aged <5 years in Beijing from 2006 to 2015, which was collected from the real-time surveillance network, we calculated the area and age distributions of the mortality of congenital malformation in children aged <5 years in Beijing. Meanwhile, the variations of age, time and space in the causes of deaths were discussed...
January 10, 2017: Zhonghua Liu Xing Bing Xue za Zhi, Zhonghua Liuxingbingxue Zazhi
https://www.readbyqxmd.com/read/28099512/age-dependent-oxidative-dna-damage-does-not-correlate-with-reduced-proliferation-of-cardiomyocytes-in-humans
#18
Yanhui Huang, Haifa Hong, Minghui Li, Jinfen Liu, Chuan Jiang, Haibo Zhang, Lincai Ye, Jinghao Zheng
BACKGROUND: Postnatal human cardiomyocyte proliferation declines rapidly with age, which has been suggested to be correlated with increases in oxidative DNA damage in mice and plays an important role in regulating cardiomyocyte proliferation. However, the relationship between oxidative DNA damage and age in humans is unclear. METHODS: Sixty right ventricular outflow myocardial tissue specimens were obtained from ventricular septal defect infant patients during routine congenital cardiac surgery...
2017: PloS One
https://www.readbyqxmd.com/read/28097362/folic-acid-supplementation-for-the-prevention-of-neural-tube-defects-us-preventive-services-task-force-recommendation-statement
#19
Kirsten Bibbins-Domingo, David C Grossman, Susan J Curry, Karina W Davidson, John W Epling, Francisco A R García, Alex R Kemper, Alex H Krist, Ann E Kurth, C Seth Landefeld, Carol M Mangione, William R Phillips, Maureen G Phipps, Michael P Pignone, Michael Silverstein, Chien-Wen Tseng
Importance: Neural tube defects are among the most common major congenital anomalies in the United States and may lead to a range of disabilities or death. Daily folic acid supplementation in the periconceptional period can prevent neural tube defects. However, most women do not receive the recommended daily intake of folate from diet alone. Objective: To update the 2009 US Preventive Services Task Force (USPSTF) recommendation on folic acid supplementation in women of childbearing age...
January 10, 2017: JAMA: the Journal of the American Medical Association
https://www.readbyqxmd.com/read/28097361/folic-acid-supplementation-for-the-prevention-of-neural-tube-defects-an-updated-evidence-report-and-systematic-review-for-the-us-preventive-services-task-force
#20
Meera Viswanathan, Katherine A Treiman, Julia Kish-Doto, Jennifer C Middleton, Emmanuel J L Coker-Schwimmer, Wanda K Nicholson
Importance: Neural tube defects are among the most common congenital anomalies in the United States. Periconceptional folic acid supplementation is a primary care-relevant preventive intervention. Objective: To review the evidence on folic acid supplementation for preventing neural tube defects to inform the US Preventive Services Task Force for an updated Recommendation Statement. Data Sources: MEDLINE, Cochrane Library, EMBASE, and trial registries through January 28, 2016, with ongoing surveillance through November 11, 2016; references; experts...
January 10, 2017: JAMA: the Journal of the American Medical Association
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