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charge syndrome

Priscila H A Oliveira, Beatriz S Souza, Eimi N Pacheco, Michele S Menegazzo, Ivan S Corrêa, Paulo R G Zen, Rafael F M Rosa, Claudia C Cesa, Lucia C Pellanda, Manuel A P Vilela
BACKGROUND: Numerous genetic syndromes associated with heart disease and ocular manifestations have been described. However, a compilation and a summarization of these syndromes for better consultation and comparison have not been performed yet. OBJECTIVE: The objective of this work is to systematize available evidence in the literature on different syndromes that may cause congenital heart diseases associated with ocular changes, focusing on the types of anatomical and functional changes...
January 2018: Arquivos Brasileiros de Cardiologia
Ping Hu, Fengchang Qiao, Yan Wang, Lulu Meng, Xiuqing Ji, Chunyu Luo, Tianhui Xu, Ran Zhou, Jingjing Zhang, Bin Yu, Leilei Wang, Ting Wang, Qiong Pan, Dingyuan Ma, Dong Liang, Zhengfeng Xu
OBJECTIVES: This study aimed to determine the diagnostic yield of targeted next-generation sequencing (NGS) in prenatal diagnosis of congenital heart defects (CHDs) and for investigating the possible genetic etiology of prenatal CHD cases. METHODS: Forty-four fetuses with CHDs and normal molecular karyotypes underwent targeted NGS in this study. Fetal genomic DNA was directly extracted from amniotic fluid cells in each prenatal case. A customized targeted NGS panel containing 77 CHD-associated genes was designed to detect variants in the coding regions and the splicing sites of these genes...
March 13, 2018: Ultrasound in Obstetrics & Gynecology
Yuko Katoh-Fukui, Shuichi Yatsuga, Hirohito Shima, Atsushi Hattori, Akie Nakamura, Kohji Okamura, Kumiko Yanagi, Manami Iso, Tadashi Kaname, Yoichi Matsubara, Maki Fukami
CHARGE syndrome is a rare autosomal dominant disease that is typically caused by heterozygous CHD7 mutations. A de novo variant in a CHD7 splicing acceptor site (NM_017780.3:c.7165-4A>G) was identified in a Japanese boy with CHARGE syndrome. This variant has been considered to be an "unclassified variant" due to its position outside the consensus splicing sites. In this study, abnormal splicing derived from this known variant was confirmed by cDNA sequencing.
2018: Human Genome Variation
Amber Smith, Mary Beth Feuling, Catherine Larson-Nath, Catherine Karls, Megan Van Hoorn, Cassandra L S Walia, Carly Leon, Elaine Danner, Pam Opichka, Lori Duesing, Alfonso Martinez, Praveen S Goday
BACKGROUND: The primary hypothesis of this article is that a team approach in creating a protocolized laboratory monitoring schedule for home parenteral nutrition (PN) patients improves patient safety by decreasing the occurrence of nutrition deficiencies and is cost-effective. METHODS: In this prospective cohort study of home PN patients, each patient followed an established protocol of laboratory monitoring and weekly review by an interdisciplinary team of dietitians, nurses, and physicians...
January 2018: JPEN. Journal of Parenteral and Enteral Nutrition
Annemarie Vesseur, Rolien Free, Chantal Snels, Friedo Dekker, Emmanuel Mylanus, Berit Verbist, Johan Frijns
OBJECTIVE: To answer the dilemma clinician's face when deciding between cochlear implant (CI) and auditory brainstem implant (ABI) treatment options in patients with cochlear nerve deficiency (CND). STUDY DESIGN: Case study supplemented with literature review and meta-analysis. SETTING: Tertiary referral center. PATIENT(S): Child with CHARGE syndrome and congenital deafness. INTERVENTION(S): ABI as there was no benefit after bilateral cochlear implantation...
April 2018: Otology & Neurotology
Khalid Maudood Siddiqui, Muhammad Ali Asghar, Amjad Nadeem
CHARGE syndrome is a condition that can disturb numerous areas of human body. As an abbreviation CHARGE stands for: coloboma, heart defects, atresia choanae, and retardation of growth, genital, and ear abnormalities. The configuration of malformations differs among individuals with this disorder, and the various health issues can be life-threatening during infancy and childhood. Affected individuals typically have several main features or a combination of major and minor appearances. Here we are presenting a case report of a neonate with CHARGE syndrome who underwent successful repair of choanal atresia under general anaesthesia with invasive monitoring...
November 2017: Pakistan Journal of Medical Sciences Quarterly
Mena Abdelsayed, Manpreet Ruprai, Peter C Ruben
E1784K is the most common mixed syndrome SCN5a mutation underpinning both Brugada syndrome type 1 (BrS1) and Long-QT syndrome type 3 (LQT3). The charge reversal mutant enhances the late sodium current (INa ) passed by the cardiac voltage-gated sodium channel (NaV 1.5), delaying cardiac repolarization. Exercise-induced triggers, like elevated temperature and cytosolic calcium, exacerbate E1784K late INa . In this study, we tested the effects of Ranolazine, the late INa blocker, on voltage-dependent and kinetic properties of E1784K at elevated temperature and cytosolic calcium...
February 26, 2018: Scientific Reports
Cecilia Villa Etchegoyen, Guillermo Alberto Keller, Sebastian Mrad, Sixuan Cheng, Guillermo DiGirolamo
Drug-induced QT interval prolongation is the most frequent cause of Long QT syndrome (LQTS) in the clinical practice. This electrophysiological entity, produced by an extended duration of the myocardial repolarization and reflected as a prolonged QT interval in the superficial electrocardiogram (EKG), increases the risk of polymorphic ventricular tachycardia (Torsades de Pointes) appearance and sudden death. Certain antiarrhythmic drugs such as amiodarone, sotalol, quinidine, procainamide, verapamil and diltiazem are known as drugs that, due to their mechanism of action, prolong the QT interval, demanding constant monitorization...
February 23, 2018: Current Clinical Pharmacology
Hui Yao, Sophie F Hill, Jennifer M Skidmore, Ethan D Sperry, Donald L Swiderski, Gilson J Sanchez, Cynthia F Bartels, Yehoash Raphael, Peter C Scacheri, Shigeki Iwase, Donna M Martin
CHD7, an ATP-dependent chromatin remodeler, is disrupted in CHARGE syndrome, an autosomal dominant disorder characterized by variably penetrant abnormalities in craniofacial, cardiac, and nervous system tissues. The inner ear is uniquely sensitive to CHD7 levels and is the most commonly affected organ in individuals with CHARGE. Interestingly, upregulation or downregulation of retinoic acid (RA) signaling during embryogenesis also leads to developmental defects similar to those in CHARGE syndrome, suggesting that CHD7 and RA may have common target genes or signaling pathways...
February 22, 2018: JCI Insight
Amanda Buyan, Delin Sun, Ben Corry
Voltage-gated sodium channels are essential for carrying electrical signals throughout the body, and mutations in these proteins are responsible for a variety of disorders, including epilepsy and pain syndromes. As such, they are the target of a number of drugs used for reducing pain or combatting arrhythmias and seizures. However, these drugs affect all sodium channel subtypes found in the body. Designing compounds to target select sodium channel subtypes will provide a new therapeutic pathway and would maximize treatment efficacy while minimizing side effects...
February 21, 2018: Proceedings of the National Academy of Sciences of the United States of America
Vikas Sinha, Samanth Talagauara Umesh, Sushil G Jha, Swati Dadhich
Bilateral Choanal atresia is a medical emergency. Corrective surgery is the mainstay of the treatment. Hegar's dilator was used in all cases to break the bony/membranous atretic plate. The 22 cases of choanal atresia all operated by the first author were included in this study. Eight cases were 1-5 year old with bilateral choanal atresia and all required immediate surgery as they had repeated attacks of respiratory distress and cycle of cyanosis. Eight cases were of CHARGE Syndrome. All the cases were operated under general anaesthesia...
March 2018: Indian Journal of Otolaryngology and Head and Neck Surgery
Naoki Teno, Yukiko Yamashita, Yusuke Iguchi, Ko Fujimori, Mizuho Une, Tomoko Nishimaki-Mogami, Takie Hiramoto, Keigo Gohda
Farnesoid X receptor (FXR) plays a major role in the control of cholesterol metabolism. Antagonizing transcriptional activity of FXR is an effective means to treat the relevant metabolic syndrome. Some of antagonists so far have the charged functions; however, they may negatively affect the pharmacokinetics. We describe herein a structure-activity relationship (SAR) exploration of nonacidic FXR antagonist 6 focusing on two regions in the structure and biological evaluation of nonacidic 10 with the characteristic N -acylated piperidine group obtained from SAR studies...
February 8, 2018: ACS Medicinal Chemistry Letters
Christopher R Broda, Antonio G Cabrera, Joseph W Rossano, John L Jefferies, Jeffrey A Towbin, Clifford Chin, Pirouz Shamszad
BACKGROUND: The purpose of this study was to describe the prevalence, characteristics, and outcomes in pediatric patients with chromosomal anomalies (CA) undergoing orthotopic heart transplantation (OHT). METHODS: A query of the database of the Pediatric Health Information System, a large administrative and billing database of 43 tertiary children's hospitals, was performed for the Years 2004 to 2016. Pediatric patients who received OHT were analyzed based on presence and type of CA...
January 31, 2018: Journal of Heart and Lung Transplantation
Alexandros Rovas, Alexander-Henrik Lukasz, Hans Vink, Marc Urban, Jan Sackarnd, Hermann Pavenstädt, Philipp Kümpers
BACKGROUND: Deterioration of the endothelial glycocalyx (eGC), a protective carbohydrate-rich layer lining the luminal surface of the endothelium, plays a key role in vascular barrier dysfunction and eventually organ-failure in systemic inflammatory response syndrome and sepsis. Early detection of glycocalyx damage could thus become an important goal in critical care. This study was designed to determine the feasibility and reproducibility of quantitative, real-time glycocalyx measurements performed at bedside in the emergency room (ER) and intensive care unit (ICU)...
February 14, 2018: Scandinavian Journal of Trauma, Resuscitation and Emergency Medicine
Dwight D Harris, Sibu P Saha
Background Extracorporeal membrane oxygenation is used for many different conditions including respiratory distress, cardiogenic shock, and trauma. In these patient groups, extracorporeal membrane oxygenation has been extensively studied. Recently, it has been used as a rescue measure in patients experiencing acute respiratory distress after thoracic surgery. The goal of our study was to examine the efficacy and cost-effectiveness of extracorporeal membrane oxygenation as a rescue measure after thoracic surgery at a single center...
January 1, 2018: Asian Cardiovascular & Thoracic Annals
MuhChyi Chai, Tsukasa Sanosaka, Hironobu Okuno, Zhi Zhou, Ikuko Koya, Satoe Banno, Tomoko Andoh-Noda, Yoshikuni Tabata, Rieko Shimamura, Tetsutaro Hayashi, Masashi Ebisawa, Yohei Sasagawa, Itoshi Nikaido, Hideyuki Okano, Jun Kohyama
Multiple congenital disorders often present complex phenotypes, but how the mutation of individual genetic factors can lead to multiple defects remains poorly understood. In the present study, we used human neuroepithelial (NE) cells and CHARGE patient-derived cells as an in vitro model system to identify the function of chromodomain helicase DNA-binding 7 (CHD7) in NE-neural crest bifurcation, thus revealing an etiological link between the central nervous system (CNS) and craniofacial anomalies observed in CHARGE syndrome...
January 15, 2018: Genes & Development
Kathryn V Isaac, Ingrid M Ganske, Stephen A Rottgers, So Young Lim, John B Mulliken
OBJECTIVE: Infants with syndromic cleft lip and/or cleft palate (CL/P) often require more complex care than their nonsyndromic counterparts. Our purpose was to (1) determine the prevalence of CL/P in patients with CHARGE syndrome and (2) highlight factors that affect management in this subset of children. DESIGN: This is a retrospective review from 1998 to 2016. PATIENTS: Patients with CHARGE syndrome were diagnosed clinically and genetically...
March 2018: Cleft Palate-craniofacial Journal
Olatz Villate, Nekane Ibarluzea, Eugenia Fraile-Bethencourt, Alberto Valenzuela, Eladio A Velasco, Detelina Grozeva, F L Raymond, María P Botella, María-Isabel Tejada
Mutations in CHD7 have been shown to be a major cause of CHARGE syndrome, which presents many symptoms and features common to other syndromes making its diagnosis difficult. Next generation sequencing (NGS) of a panel of intellectual disability related genes was performed in an adult patient without molecular diagnosis. A splice donor variant in CHD7 (c.5665 + 1G > T) was identified. To study its potential pathogenicity, exons and flanking intronic sequences were amplified from patient DNA and cloned into the pSAD® splicing vector...
2018: Frontiers in Genetics
Roser Ufartes, Janina Schwenty-Lara, Luisa Freese, Christiane Neuhofer, Janika Möller, Peter Wehner, Conny M A van Ravenswaaij-Arts, Monica T Y Wong, Ina Schanze, Andreas Tzschach, Oliver Bartsch, Annette Borchers, Silke Pauli
CHARGE syndrome is an autosomal dominant malformation disorder caused by heterozygous loss of function mutations in the chromatin remodeler CHD7. Chd7 regulates the expression of Sema3a, which also contributes to the pathogenesis of Kallmann syndrome, a heterogeneous condition with the typical features hypogonadotropic hypogonadism and an impaired sense of smell. Both features are common in CHARGE syndrome suggesting that SEMA3A may provide a genetic link between these syndromes. Indeed, we find evidence that SEMA3A plays a role in the pathogenesis of CHARGE syndrome...
February 8, 2018: Human Molecular Genetics
Anne Gadomski, Moira Riley, Katherine Ramiza, Lauren Onofrey, Ruth Zinkievich, Nicole Krupa, Melissa Scribani
OBJECTIVE: Our level I nursery and pediatric unit in a rural hospital adopted a family-centered, symptom-based oral morphine weaning protocol for Neonatal Abstinence Syndrome (NAS) in 2009. Length of stay (LOS), treatment duration (TD) and hospital charges for infants treated for NAS were then compared to published data in neonatal intensive care units (NICUs) nationwide. METHODS: The electronic medical records (EMRs) of infants born 1/1/11 to 4/1/17 whose discharge diagnosis included an ICD9 or ICD10 code for NAS or prenatal drug exposure were paired with maternal EMR and reviewed...
February 8, 2018: Academic Pediatrics
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