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https://www.readbyqxmd.com/read/28110288/screening-for-seemingly-healthy-newborns-with-congenital-cytomegalovirus-infection-by-quantitative-real-time-polymerase-chain-reaction-using-newborn-urine-an-observational-study
#1
Akira Yamaguchi, Tsutomu Oh-Ishi, Takashi Arai, Hideaki Sakata, Nodoka Adachi, Satoshi Asanuma, Eiji Oguma, Hirofumi Kimoto, Jiro Matsumoto, Hidetoshi Fujita, Tadashi Uesato, Jutaro Fujita, Ken Shirato, Hideki Ohno, Takako Kizaki
OBJECTIVE: Approximately 8-10% of newborns with asymptomatic congenital cytomegalovirus (cCMV) infection develop sensorineural hearing loss (SNHL). However, the relationship between CMV load, SNHL and central nervous system (CNS) damage in cCMV infection remains unclear. This study aimed to examine the relationship between urinary CMV load, SNHL and CNS damage in newborns with cCMV infection. STUDY DESIGN: The study included 23 368 newborns from two maternity hospitals in Saitama Prefecture, Japan...
January 20, 2017: BMJ Open
https://www.readbyqxmd.com/read/28109959/crispr-cas9-mediated-genome-editing-as-a-therapeutic-approach-for-leber-congenital-amaurosis-10
#2
Guo-Xiang Ruan, Elizabeth Barry, Dan Yu, Michael Lukason, Seng H Cheng, Abraham Scaria
As the most common subtype of Leber congenital amaurosis (LCA), LCA10 is a severe retinal dystrophy caused by mutations in the CEP290 gene. The most frequent mutation found in patients with LCA10 is a deep intronic mutation in CEP290 that generates a cryptic splice donor site. The large size of the CEP290 gene prevents its use in adeno-associated virus (AAV)-mediated gene augmentation therapy. Here, we show that targeted genomic deletion using the clustered regularly interspaced short palindromic repeats (CRISPR)/Cas9 system represents a promising therapeutic approach for the treatment of patients with LCA10 bearing the CEP290 splice mutation...
January 18, 2017: Molecular Therapy: the Journal of the American Society of Gene Therapy
https://www.readbyqxmd.com/read/28109637/congenital-mirror-movements-in-a-patient-with-alpha-dystroglycanopathy-due-to-a-novel-pomk-mutation
#3
Didem Ardicli, Rahsan Gocmen, Beril Talim, Rosanne Sprute, Goknur Haliloglu, Sebahattin Cirak, Haluk Topaloglu
Dystroglycanopathies are a heterogeneous group of muscular dystrophies often associated with variable brain and eye involvement. Glycosylated alpha-dystroglycan (ADG) plays a key role in the development and stability of basement membranes as well as organizing axon guidance in the central nervous system. Congenital mirror movements, either isolated or in association with several genetic syndromes, are defined as inability to perform unimanual movements. We report an adolescent boy with limb-girdle muscular dystrophy due to ADG deficiency and coexisting congenital mirror movements...
December 23, 2016: Neuromuscular Disorders: NMD
https://www.readbyqxmd.com/read/28109537/clinical-factors-associated-with-cerebral-metabolism-in-term-neonates-with-congenital-heart-disease
#4
Anna Lonyai Harbison, Jodie K Votava-Smith, Sylvia Del Castillo, S Ram Kumar, Vince Lee, Vincent Schmithorst, Hollie A Lai, Sharon O'Neil, Stefan Bluml, Lisa Paquette, Ashok Panigrahy
OBJECTIVE: To determine associations between patient and clinical factors with postnatal brain metabolism in term neonates with congenital heart disease (CHD) via the use of quantitative magnetic resonance spectroscopy. STUDY DESIGN: Neonates with CHD were enrolled prospectively to undergo pre- and postoperative 3T brain magnetic resonance imaging. Short-echo single-voxel magnetic resonance spectroscopy of parietal white matter was used to quantify metabolites related to brain maturation (n-acetyl aspartate, choline, myo- inositol), neurotransmitters (glutamate and gamma-aminobutyric acid), energy metabolism (glutamine, citrate, glucose, and phosphocreatine), and injury/apoptosis (lactate and lipids)...
January 19, 2017: Journal of Pediatrics
https://www.readbyqxmd.com/read/28109504/mutational-analysis-of-gsc-hoxa2-and-prkra-in-106-chinese-patients-with-microtia
#5
Shaojuan Hao, Lei Jin, Chenlong Li, Huijun Wang, Fengyun Zheng, Duan Ma, Tianyu Zhang
OBJECTIVE: Microtia is defined as a developmental malformation characterized by a small, abnormal shaped auricle, with atresia or stenosis of the auditory canal. Genes responsible for nonsyndromic microtia have remained elusive. We therefore report a mutational analysis of GSC, HOXA2 and PRKRA in 106 congenital microtia patients without any combined malformation to explore the relationship between GSC, HOXA2, PRKRA and nonsyndromic microtia. METHODS: A total of 106 patients with a clinical diagnosis of congenital microtia and a control group (100 unaffected controls) were recruited through the Eye and ENT Hospital of Fudan University in China...
February 2017: International Journal of Pediatric Otorhinolaryngology
https://www.readbyqxmd.com/read/28109478/chondrodysplasia-punctata-presenting-with-tracheal-obstruction
#6
Claudia Schweiger, Michel N Nassar, Debora Goebel, Michael J Rutter
Chondrodysplasia punctata is a group of congenital bone and cartilage disorders characterized by erratic calcification during development. Laryngeal and tracheal calcification and subsequent stenosis, while being reported in several cases of chondrodysplasia punctata, are not frequent findings and there are no proposed management techniques. We describe here a case of an infant with chondrodysplasia punctata associated to tracheal stenosis that was successfully treated with balloon dilation, and with long term follow-up...
February 2017: International Journal of Pediatric Otorhinolaryngology
https://www.readbyqxmd.com/read/28109477/clinical-outcomes-following-cochlear-implantation-in-children-with-inner-ear-anomalies
#7
Amal Isaiah, Daniel Lee, Felicity Lenes-Voit, Melissa Sweeney, Walter Kutz, Brandon Isaacson, Peter Roland, Kenneth H Lee
OBJECTIVE: A significant proportion of children with congenital hearing loss who are candidates for cochlear implants (CIs) may have inner ear malformations (IEMs). Surgical and speech outcomes following CI in these children have not been widely reported. METHODS: The charts of children who were evaluated for a CI between 1/1/1986 and 12/31/2014 at a university-based tertiary level pediatric cochlear implant center were reviewed. Principal inclusion criteria included (i) age 1-18 years, (ii) history of bilateral severe to profound sensorineural hearing loss, and (iii) limited benefit from binaural amplification...
February 2017: International Journal of Pediatric Otorhinolaryngology
https://www.readbyqxmd.com/read/28108955/-unforgettable-a-pictorial-essay-on-anatomy-and-pathology-of-the-hippocampus
#8
REVIEW
Sven Dekeyzer, Isabelle De Kock, Omid Nikoubashman, Stephanie Vanden Bossche, Ruth Van Eetvelde, Jeroen De Groote, Marjan Acou, Martin Wiesmann, Karel Deblaere, Eric Achten
: The hippocampus is a small but complex anatomical structure that plays an important role in spatial and episodic memory. The hippocampus can be affected by a wide range of congenital variants and degenerative, inflammatory, vascular, tumoral and toxic-metabolic pathologies. Magnetic resonance imaging is the preferred imaging technique for evaluating the hippocampus. The main indications requiring tailored imaging sequences of the hippocampus are medically refractory epilepsy and dementia...
January 20, 2017: Insights Into Imaging
https://www.readbyqxmd.com/read/28108845/liver-involvement-in-congenital-disorders-of-glycosylation-cdg-a-systematic-review-of-the-literature
#9
REVIEW
D Marques-da-Silva, V Dos Reis Ferreira, M Monticelli, P Janeiro, P A Videira, P Witters, J Jaeken, D Cassiman
Congenital disorders of glycosylation (CDG) are a rapidly growing family of genetic diseases caused by defects in glycosylation. Nearly 100 CDG types are known so far. Patients present a great phenotypic diversity ranging from poly- to mono-organ/system involvement and from very mild to extremely severe presentation. In this literature review, we summarize the liver involvement reported in CDG patients. Although liver involvement is present in only a minority of the reported CDG types (22 %), it can be debilitating or even life-threatening...
January 20, 2017: Journal of Inherited Metabolic Disease
https://www.readbyqxmd.com/read/28108756/left-ventricular-noncompaction-cardiomyopathy-in-pediatric-patients-a-case-series-of-a-clinically-heterogeneous-disease
#10
Umang Gupta, Pooja Makhija
Left ventricular noncompaction is a rare form of cardiomyopathy, which results from multiple trabeculations in the left ventricular myocardium. The clinical presentation is highly variable, and spectrum includes asymptomatic patients diagnosed during family screening on one end to patients with depressed systolic function, heart failure, thromboembolic complications, and cardiac arrhythmias on the other (Kim et al in J Am Coll Cardiol 53: 2009, 2009). Further, the progression of the condition is highly variable...
January 21, 2017: Pediatric Cardiology
https://www.readbyqxmd.com/read/28108735/fertility-sparing-uterine-lesion-resection-for-young-women-with-gestational-trophoblastic-neoplasias-single-institution-experience
#11
Xiaoyu Wang, Junjun Yang, Jie Li, Jun Zhao, Tong Ren, Fengzhi Feng, Xirun Wan, Yang Xiang
PURPOSE: To evaluate the oncological safety and pregnant outcomes of fertility-sparing uterine lesion resection in treating gestational trophoblastic neoplasias. RESULTS: After the treatment of surgery and chemotherapy, all the patients achieved complete remission. With a median follow-up time of 44 months (range, 6-188), 3 patients (3.85%) relapsed within 3-26 months. Multivariate analysis showed that tumor size was the independent risk factor of recurrence and the cutoff value was 4...
January 18, 2017: Oncotarget
https://www.readbyqxmd.com/read/28108579/surgical-repair-of-ostial-obstruction-of-the-coronary-artery-for-quadricuspid-aortic-valve-in-an-infant
#12
Takeaki Harada, Koji Fukae, Yusuke Ando
A congenital quadricuspid aortic valve accompanied by ostial obstruction of the left coronary artery is extremely rare and has not yet been reported in an infant. We herein describe an infant with ostial obstruction of the left coronary artery caused by a small left coronary cusp that formed a pouch. The patient's cardiac function deteriorated due to progressive myocardial ischaemia, and translocation of the ostium of the left coronary artery was performed. Postoperative coronary angiography revealed good filling of the left coronary artery...
January 20, 2017: Interactive Cardiovascular and Thoracic Surgery
https://www.readbyqxmd.com/read/28108550/cardiac-resynchronization-therapy-in-adults-with-congenital-heart-disease
#13
Zeliha Koyak, Joris R de Groot, Ahmed Krimly, Tara M Mackay, Berto J Bouma, Candice K Silversides, Erwin N Oechslin, Ulas Hoke, Lieselot van Erven, Werner Budts, Isabelle C Van Gelder, Barbara J M Mulder, Louise Harris
AIMS: In adults with congenital heart disease (CHD) heart failure is one of the leading causes of morbidity and mortality but experience with and reported outcome of cardiac resynchronization therapy (CRT) is limited. We investigated the efficacy of CRT in adults with CHD. METHODS AND RESULTS: This was a retrospective study including 48 adults with CHD who received CRT since 2003 in four tertiary referral centres. Responders were defined as patients who showed improvement in NYHA functional class and/or systemic ventricular ejection fraction by at least one category...
January 20, 2017: Europace: European Pacing, Arrhythmias, and Cardiac Electrophysiology
https://www.readbyqxmd.com/read/28108282/hyperfiltration-associated-biomechanical-forces-in-glomerular-injury-and-response-potential-role-for-eicosanoids
#14
REVIEW
Mukut Sharma, Ram Sharma, Ellen T McCarthy, Virginia J Savin, Tarak Srivastava
Hyperfiltration is a well-known risk factor in progressive loss of renal function in chronic kidney disease (CKD) secondary to various diseases. A reduced number of functional nephrons due to congenital or acquired cause(s) results in hyperfiltration in the remnant kidney. Hyperfiltration-associated increase in biomechanical forces namely pressure-induced tensile stress and fluid flow-induced shear stress (FFSS) determine cellular injury and response. We believe the current treatment of CKD yields limited success because it largely attenuates pressure-induced tensile stress changes but not the effect of FFSS on podocytes...
January 17, 2017: Prostaglandins & Other Lipid Mediators
https://www.readbyqxmd.com/read/28108023/the-intersection-of-fetal-palliative-care-and-fetal-surgery-addressing-mortality-and-quality-of-life
#15
David Munson
Over the last few decades, the fields of fetal surgery and maternal-fetal medicine have developed interventions aimed at modifying severe diseases in utero. Innovations in fetal approaches to congenital diaphragmatic hernia and myelomeningocele have shown considerable promise in modifying the clinical course with fetal intervention. Patients who present to fetal centers to be evaluated for these interventions face challenging decisions that directly relate to questions of mortality and quality of life. This article explores how clinicians might apply the tools and principles of fetal palliative care to supporting a woman and her family who are considering fetal surgery...
January 17, 2017: Seminars in Perinatology
https://www.readbyqxmd.com/read/28107801/surgical-considerations-in-total-anomalous-pulmonary-venous-connection
#16
Fawwaz R Shaw, Jonathan M Chen
Total anomalous pulmonary venous connection (TAPVC) is predominantly a neonatal congenital cardiac diagnosis in which the pulmonary veins fail to return to the left atrium. The presence or absence of obstruction defines the clinical presentation, and in the setting of obstructed pulmonary veins, this diagnosis represents a true surgical emergency. Improvements in perioperative care and refinement of surgical techniques continue to allow for improved survival and decreased morbidity. A description of the surgical anatomy and key concepts in the perioperative and surgical management of TAPVC are presented in this review...
January 1, 2017: Seminars in Cardiothoracic and Vascular Anesthesia
https://www.readbyqxmd.com/read/28107799/the-year-in-review
#17
Richard J Ing, Mark Twite
This article is a review of the literature published during the 12 months of 2016 that are of interest to the congenital cardiac anesthesiologist. Five themes are addressed for 2016, and 53 peer-reviewed articles are discussed.
January 1, 2017: Seminars in Cardiothoracic and Vascular Anesthesia
https://www.readbyqxmd.com/read/28107085/registry-of-ocular-anomalies-among-patients-with-genetic-disorders-attending-the-clinical-genetics-department-at-the-national-research-centre-in-egypt
#18
Ola M Eid, Sawsan Abdel Hady, Ahmed El-Kotoury, Khalda A Said, Karima Rafat, Hala T El-Bassyouni
BACKGROUND: The congenital abnormalities of eyes are a major cause of visual impairment throughout the world. Prevention of visual impairment due to congenital and infantile abnormalities of eyes is very important. The aim of this study is to evaluate the frequency and types of congenital ocular anomalies among patients with genetic disorders. PATIENTS AND METHODS: This is a retrospective study that was conducted in the National Research Center, Egypt at the Clinical Genetics Department over a 4-year period...
January 20, 2017: Ophthalmic Genetics
https://www.readbyqxmd.com/read/28106958/warden-procedure-for-correction-of-sinus-venosus-atrial-septal-defect-and-partial-anomalous-pulmonary-venous-connection
#19
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
#20
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
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