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https://www.readbyqxmd.com/read/28944995/comparative-analysis-of-serum-proteome-in-congenital-scoliosis-patients-with-tbx6-haploinsufficiency-a-first-report-pointing-to-lipid-metabolism
#1
Qiankun Zhu, Nan Wu, Gang Liu, Yangzhong Zhou, Sen Liu, Jun Chen, Jiaqi Liu, Yuzhi Zuo, Zhenlei Liu, Weisheng Chen, Yixin Chen, Jia Chen, Mao Lin, Yanxue Zhao, Yang Yang, Shensgru Wang, Xu Yang, Yufen Ma, Jian Wang, Xiaoli Chen, Jianguo Zhang, Jianxiong Shen, Zhihong Wu, Guixing Qiu
Congenital scoliosis (CS) is a three-dimensional deformity of the spine affecting quality of life. We have demonstrated TBX6 haploinsufficiency is the most important contributor to CS. However, the pathophysiology at the protein level remains unclear. Therefore, this study was to explore the differential proteome in serum of CS patients with TBX6 haploinsufficiency. Sera from nine CS patients with TBX6 haploinsufficiency and nine age- and gender-matched healthy controls were collected and analysed by isobaric tagged relative and absolute quantification (iTRAQ) labelling coupled with mass spectrometry (MS)...
September 25, 2017: Journal of Cellular and Molecular Medicine
https://www.readbyqxmd.com/read/28944740/a-novel-nonviral-gene-delivery-system-for-treating-leber-s-congenital-amaurosis
#2
Da Sun, Rebecca M Schur, Zheng-Rong Lu
No abstract text is available yet for this article.
October 2017: Therapeutic Delivery
https://www.readbyqxmd.com/read/28944608/coexistence-of-mutations-in-keratin-10-krt10-and-the-mitochondrial-genome-in-a-patient-with-ichthyosis-with-confetti-and-leber-s-hereditary-optic-neuropathy
#3
Agnieszka Kalinska-Bienias, Agnieszka Pollak, Cezary Kowalewski, Urszula Lechowicz, Piotr Stawinski, Aleksandra Gergont, Joanna Kosinska, Ewa Pronicka, Pawel Kowalski, Katarzyna Wozniak, Rafal Ploski
Ichthyosis with confetti (IWC) is a severe congenital genodermatosis characterized by ichthyosiform erythroderma since birth and confetti-like spots of normal skin appearing in childhood as a results of revertant mosaicism. This disorder is caused by mutations in KRT10 or KRT1 genes. We report a 16-year-old boy who presented ichthyosiform erythroderma with severe desquamation since birth and gradually worsening psycho-neurological symptoms (mental retardation, ataxia, dystonia, hypoacusis). The patient conspicuously lacked typical confetti-like spots at the age of 16...
September 25, 2017: American Journal of Medical Genetics. Part A
https://www.readbyqxmd.com/read/28944341/laparoscopic-resection-for-meckel-s-diverticulum-causing-intestinal-obstruction
#4
Türker Karabuğa, İsmail Özsan, Ömer Yoldaş, Erkan Şahin, Önder Limon, Ünal Aydın
Meckel's diverticulum (MD) is the most common congenital anomaly of the gastrointestinal system with an estimated incidence of approximately 2% of the population. Although most cases are asymptomatic, it has the potential to create complications, such as hemorrhage, inflammation, intestinal obstruction, perforation, and intussusception. Meckel's diverticulum is generally diagnosed incidentally or upon investigation of unexplained gastrointestinal bleeding, perforation, inflammation, or obstruction for both pediatric and adult patients...
2017: Turk J Surg
https://www.readbyqxmd.com/read/28944240/novel-compound-heterozygous-mutations-in-telo2-in-a-patient-with-severe-expression-of-you-hoover-fong-syndrome
#5
Shahida Moosa, Janine Altmüller, Troels Lyngbye, Rikke Christensen, Yun Li, Peter Nürnberg, Gökhan Yigit, Ida Vogel, Bernd Wollnik
BACKGROUND: Very recently, compound heterozygous loss-of-function mutations in TELO2 were shown to underlie the newly-described You-Hoover-Fong syndrome. TELO2 forms part of the co-chaperone triple T complex (TTT complex), which plays an important role in the maturation and stabilization of the phosphatidylinositol 3-kinase-related protein kinases (PIKKs). Patients with mutations in TELO2 present with microcephaly and associated intellectual disability, postnatal growth retardation and dysmorphic features...
September 2017: Molecular Genetics & Genomic Medicine
https://www.readbyqxmd.com/read/28944237/next-generation-sequencing-reveals-the-mutational-landscape-of-clinically-diagnosed-usher-syndrome-copy-number-variations-phenocopies-a-predominant-target-for-translational-read-through-and-pex26-mutated-in-heimler-syndrome
#6
Christine Neuhaus, Tobias Eisenberger, Christian Decker, Sandra Nagl, Cornelia Blank, Markus Pfister, Ingo Kennerknecht, Cornelie Müller-Hofstede, Peter Charbel Issa, Raoul Heller, Bodo Beck, Klaus Rüther, Diana Mitter, Klaus Rohrschneider, Ute Steinhauer, Heike M Korbmacher, Dagmar Huhle, Solaf M Elsayed, Hesham M Taha, Shahid M Baig, Heidi Stöhr, Markus Preising, Susanne Markus, Fabian Moeller, Birgit Lorenz, Kerstin Nagel-Wolfrum, Arif O Khan, Hanno J Bolz
BACKGROUND: Combined retinal degeneration and sensorineural hearing impairment is mostly due to autosomal recessive Usher syndrome (USH1: congenital deafness, early retinitis pigmentosa (RP); USH2: progressive hearing impairment, RP). METHODS: Sanger sequencing and NGS of 112 genes (Usher syndrome, nonsyndromic deafness, overlapping conditions), MLPA, and array-CGH were conducted in 138 patients clinically diagnosed with Usher syndrome. RESULTS: A molecular diagnosis was achieved in 97% of both USH1 and USH2 patients, with biallelic mutations in 97% (USH1) and 90% (USH2), respectively...
September 2017: Molecular Genetics & Genomic Medicine
https://www.readbyqxmd.com/read/28944224/the-relationship-between-parental-rearing-behavior-resilience-and-depressive-symptoms-in-adolescents-with-congenital-heart-disease
#7
Ju Ryoung Moon, Jinyoung Song, June Huh, I-Seok Kang, Seung Woo Park, Sung-A Chang, Ji-Hyuk Yang, Tae-Gook Jun
OBJECTIVES: Parental rearing behavior is one factor that influences the strength of resilience. In turn, resilience influences depression. However, it is unclear whether resilience has a mediating effect on the relationship between parental rearing and depression in adolescents with congenital heart disease (CHD). Therefore, the associations between parental rearing behavior and resilience and between rearing behavior and symptoms of depression were investigated with respect to age, gender and disease severity...
2017: Frontiers in Cardiovascular Medicine
https://www.readbyqxmd.com/read/28944183/transaortic-septal-myectomy-techniques-and-pitfalls
#8
REVIEW
Anthony Ralph-Edwards, Rachel D Vanderlaan, Pietro Bajona
Hypertrophic cardiomyopathy (HCM) is the most common congenital cardiac disease, affecting up to 1 in 200 individuals. When it causes left ventricular outflow tract (LVOT) obstruction, treatment is indicated to reduce symptoms and the risk of sudden cardiac death. Pharmacologic therapy is the first line treatment, however if it fails, surgical myectomy or percutaneous ablation of the hypertrophic myocardium are the standard therapies to eliminate subaortic obstruction. Both surgical myectomy and percutaneous ablation have been demonstrated as safe and effective treatments; however, myectomy is the gold standard with a significantly lower complication rate and more complete and longstanding reduction of LVOT obstruction...
July 2017: Annals of Cardiothoracic Surgery
https://www.readbyqxmd.com/read/28944135/management-of-syndromic-diarrhea-tricho-hepato-enteric-syndrome-a-review-of-the-literature
#9
REVIEW
Alexandre Fabre, Patrice Bourgeois, Marie-Edith Coste, Céline Roman, Vincent Barlogis, Catherine Badens
Syndromic diarrhea/tricho-hepato-enteric syndrome (SD/THE) is a rare disease linked to the loss of function of either TTC37 or SKIV2L, two components of the SKI complex. It is characterized by a combination of 9 signs (intractable diarrhea, hair abnormalities, facial dysmorphism, immune abnormalities, IUGR/SGA, liver abnormalities, skin abnormalities, congenital heart defect and platelet abnormalities). We present a comprehensive review of the management of SD/THE and tested therapeutic regimens. A review of the literature was conducted in May 2017: 29 articles and 2 abstracts were included describing a total of 80 patients, of which 40 presented with mutations of TTC37, 14 of SKIV2L...
August 2017: Intractable & Rare Diseases Research
https://www.readbyqxmd.com/read/28944085/false-negative-transcranial-motor-evoked-potentials-tcmeps-during-surgery-for-congenital-lumbar-kyphoscoliosis-a-case-report
#10
Masayuki Ohashi, Kei Watanabe, Kenta Furutani, Toru Hirano, Keiichi Katsumi, Hirokazu Shoji, Tatsuki Mizouchi, Naoto Endo
INTRODUCTION: Transcranial motor evoked potential (TcMEP) monitoring is the gold standard for intra-operative neurological monitoring (IOM) of motor pathways during complex spine surgery because of its high sensitivity and specificity. However, although it is very low, the rate of false-negatives in TcMEP monitoring is not zero. Therefore, over-reliance on TcMEP monitoring can cause potentially preventable motor deficits. CASE PRESENTATION: We report a case of motor deficits due to nerve root stretch after surgical correction of a congenital lumbar kyphoscoliosis in a 56-year-old woman...
2017: Spinal Cord Series and Cases
https://www.readbyqxmd.com/read/28943497/leadless-micra-pacemaker-percutaneous-extraction-from-pulmonary-artery-in-complex-congenital-heart-disease-and-complete-heart-block-patient
#11
Maciej Sterliński, Marcin Demkow, Karolina Plaskota, Artur Oręziak
No abstract text is available yet for this article.
September 26, 2017: EuroIntervention
https://www.readbyqxmd.com/read/28943457/clinical-staging-of-fibrodysplasia-ossificans-progressiva-fop
#12
Robert J Pignolo, Frederick S Kaplan
Fibrodyplasia ossificans progressiva (FOP) is an ultra-rare genetic condition of heterotopic ossification (HO) that results in progressive loss of joint function, ultimately rendering movement impossible. Death is most commonly the result of thoracic insufficiency syndrome, or complications related to recurrent respiratory infections. There are no current treatments for FOP, but early and emerging clinical trials offer hope for this devastating disease. With the recent reporting of a comprehensive global natural history study, scales to assess joint dysfunction, and a more accurate prediction of joint survival, it is now possible to construct a conceptual framework for the clinical staging of FOP...
September 21, 2017: Bone
https://www.readbyqxmd.com/read/28943138/laparoscopic-versus-open-surgery-in-management-of-congenital-duodenal-obstruction-in-neonates-a-single-center-experience-with-112-cases
#13
Tran Ngoc Son, Hoang Huu Kien
AIM: A single center study was conducted to compare the short-term clinical outcome between laparoscopic surgery (LS) and open surgery (OS) repair for neonates with congenital duodenal obstruction (CDO). METHODS: Medical records of all neonates with bodyweight at surgery over 1500g and without other gastrointestinal anomalies that underwent surgery (duodeno-duodenostomy or duodeno-jejunostomy) for CDO at our center between January 2009 and July 2015 were reviewed...
September 5, 2017: Journal of Pediatric Surgery
https://www.readbyqxmd.com/read/28943081/a-large-retrospective-review-of-persistent-proteinuria-in-children
#14
Chingying Chang-Chien, Gwo-Tsann Chuang, I-Jung Tsai, Bor-Luen Chiang, Yao-Hsu Yang
BACKGROUND: Proteinuria is a common finding in children. It may be due to a benign cause, but it can also represent early renal injury. Of children with persistent proteinuria noted in mass urine screening programs, 35% have a urine protein level greater than 100 mg/dl and many of them are associated with many underlying renal diseases. The aim of this study was to identify the etiology and prognosis of persistent proteinuria in children. METHODS: We collected data on urine protein from January 2011 to December 2016 in a tertiary medical center...
September 21, 2017: Journal of the Formosan Medical Association, Taiwan Yi Zhi
https://www.readbyqxmd.com/read/28943051/a-case-of-adult-congenital-laryngeal-cleft-asymptomatic-until-hypopharynx-cancer-treatment
#15
Kotaro Shimizu, Atsuhiko Uno, Kazuya Takemura, Naoki Ashida, Ryohei Oya, Takahiro Kitamura, Yukinori Takenaka, Yoshifumi Yamamoto
Laryngeal cleft is an anomaly of failed posterior closure of the larynx. Most cases are diagnosed and need treatment early in life due to respiratory and swallowing problems. We report an unusual case of a 66-year-old man with an asymptomatic laryngeal cleft until treatment for hypopharyngeal cancer. During concurrent chemoradiotherapy (CCRT), despite reduced tumor volume, he presented severe dysphagia and dyspnea, followed by severe pneumonia twice. Because CCRT had to be discontinued, a pharyngolaryngectomy was performed for the cancer treatment...
September 21, 2017: Auris, Nasus, Larynx
https://www.readbyqxmd.com/read/28942871/atrial-arrhythmias-in-adults-with-congenital-heart-disease-listening-to-your-heart-sound-can-save-your-life
#16
EDITORIAL
Giuseppe Limongelli, Berardo Sarubbi
No abstract text is available yet for this article.
December 1, 2017: International Journal of Cardiology
https://www.readbyqxmd.com/read/28942870/impact-of-atrial-arrhythmias-on-outcome-in-adults-with-congenital-heart-disease
#17
H Yang, J M Kuijpers, J R de Groot, T C Konings, A van Dijk, G Tj Sieswerda, M C Post, B J M Mulder, B J Bouma
BACKGROUND: Adults with congenital heart disease (ACHD) are affected by atrial arrhythmias (AA). To elucidate the impact of AA on prognosis, we aimed to determine the impact of AA on death, heart failure and stroke in ACHD patients in a prospective nationwide clinical registry. METHODS: All patients aged ≥18years included in the CONCOR registry per October 1st 2015 were analysed. Prior AA was defined as atrial fibrillation, atrial flutter or unspecified AA before inclusion in CONCOR and new-onset AA as a first documented AA during follow-up...
December 1, 2017: International Journal of Cardiology
https://www.readbyqxmd.com/read/28942735/representation-of-cardiovascular-magnetic-resonance-in-the-aha-acc-guidelines
#18
Florian von Knobelsdorff-Brenkenhoff, Guenter Pilz, Jeanette Schulz-Menger
BACKGROUND: Whereas evidence supporting the diagnostic value of cardiovascular magnetic resonance (CMR) has increased, there exists significant worldwide variability in the clinical utilization of CMR. A recent study demonstrated that CMR is represented in the majority of European Society for Cardiology (ESC) guidelines, with a large number of specific recommendations in particular regarding coronary artery disease. To further investigate the gap between the evidence and clinical use of CMR, this study analyzed the role of CMR in the guidelines of the American College of Cardiology (ACC) and American Heart Association (AHA)...
September 25, 2017: Journal of Cardiovascular Magnetic Resonance
https://www.readbyqxmd.com/read/28942698/neuroimaging-findings-using-transfontanellar-ultrasound-in-newborns-with-microcephaly-a-possible-association-with-congenital-zika-virus-infection
#19
Ana Sofia França Cruz Ximenes, Pedro Pires, Heron Werner, Patricia Mello Jungmann, Epitácio Leite Rolim Filho, Etiene Pedrosa Andrade, Roberto Souza Lemos, Alberto Borges Peixoto, Mohammad Zare Mehrjardi, Gabriele Tonni, Edward Araujo Júnior
OBJECTIVE: To determine the main neuroimaging findings of microcephalic newborns with possible Zika virus (ZIKV) intrauterine infection using transfontanellar cranial ultrasound. METHODS: We performed a retrospective study to describe the main neuroimaging in newborns with microcephaly and possible association with congenital ZIKV infection. Microcephaly was defined in the postnatal period using transfontanellar cranial examination which was performed using both two- (2D) and three-dimensional (3D) ultrasound...
September 24, 2017: Journal of Maternal-fetal & Neonatal Medicine
https://www.readbyqxmd.com/read/28942547/electron-microscopic-evaluation-of-anterior-lens-epithelium-in-patients-with-idiopathic-congenital-cataract
#20
Kemal Tekin, Yasemin Ozdamar Erol, Merve Inanc, Mustafa Fevzi Sargon, Cigdem Ulku Can, Sibel Polat, Pelin Yilmazbas
PURPOSE: To investigate the ultrastructure of the lens epithelial cells (LECs) in patients with idiopathic congenital cataract. METHODS: This is a prospective interventional study. The anterior lens capsules (aLC: basement membrane and associated LECs) were taken from 16 eyes of 12 consecutive patients who were diagnosed as having idiopathic congenital cataracts. The aLCs were obtained from cataract surgery and prepared for transmission electron microscopy (TEM)...
September 23, 2017: International Ophthalmology
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