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https://www.readbyqxmd.com/read/29159871/immunodeficiency-in-charge-syndrome
#1
REVIEW
Sam Mehr, Peter Hsu, Dianne Campbell
Immunodeficiency can occur in CHARGE syndrome, with immunophenotypes including reduction in T-cell counts, combined T-B cell defects rarely requiring antibiotic prophylaxis or immunoglobulin replacement, and severe combined immunodeficiency, which is fatal without immune reconstitution. However, the prevalence of immunodeficiency in CHARGE syndrome remains unclear with few prospective studies. In this review, we examine the existing literature covering immunodeficiency associated with CHARGE syndrome, compare these with immunodeficiencies reported in 22q11...
November 21, 2017: American Journal of Medical Genetics. Part C, Seminars in Medical Genetics
https://www.readbyqxmd.com/read/29157514/a-psycho-legal-perspective-on-sexual-offending-in-individuals-with-autism-spectrum-disorder
#2
REVIEW
A Creaby-Attwood, C S Allely
It is important to consider whether there are innate vulnerabilities that increase the risk of an individual with an autistic spectrum disorder (ASD), predominantly those defendants with a diagnosis of Asperger's Syndrome, being charged and convicted of a sexual offence. The significance of such can be readily seen in recent English case law, with judgments on appeal finding convictions unsafe where there have been a number of failings in the Judge's summing up. In this article, we will consider the gravity of Judges omitting to highlight a defendant's diagnosis of autism spectrum disorder and the necessity of detailed explanations to jury members regarding the condition and its effect upon thoughts and behaviour...
November 2017: International Journal of Law and Psychiatry
https://www.readbyqxmd.com/read/29152903/reproductive-endocrine-phenotypes-relating-to-chd7-mutations-in-humans
#3
REVIEW
Ravikumar Balasubramanian, William F Crowley
Mutations in the gene CHD7 cause CHARGE syndrome, a rare multi-organ syndromic disorder. Gonadal defects are common in individuals with CHARGE syndrome (seen in ∼60-80% of cases) and represent the letter "G" in the CHARGE syndrome acronym. The gonadal defect in CHARGE syndrome results from congenital deficiency of the hypothalamic hormone Gonadotropin-releasing hormone (GnRH), which manifests clinically as pubertal failure and infertility, and biochemically as hypogonadotropic hypogonadism (low sex steroid hormone levels with inappropriately normal or low gonadotropin levels)...
November 20, 2017: American Journal of Medical Genetics. Part C, Seminars in Medical Genetics
https://www.readbyqxmd.com/read/29144511/evaluating-charge-syndrome-in-congenital-hypogonadotropic-hypogonadism-patients-harboring-chd7-variants
#4
Cheng Xu, Daniele Cassatella, Almer M van der Sloot, Richard Quinton, Michael Hauschild, Christian De Geyter, Christa Flück, Katrin Feller, Deborah Bartholdi, Attila Nemeth, Irene Halperin, Sandra Pekic Djurdjevic, Philippe Maeder, Georgios Papadakis, Andrew A Dwyer, Laura Marino, Lucie Favre, Duarte Pignatelli, Nicolas J Niederländer, James Acierno, Nelly Pitteloud
PurposeCongenital hypogonadotropic hypogonadism (CHH), a rare genetic disease caused by gonadotropin-releasing hormone deficiency, can also be part of complex syndromes (e.g., CHARGE syndrome). CHD7 mutations were reported in 60% of patients with CHARGE syndrome, and in 6% of CHH patients. However, the definition of CHD7 mutations was variable, and the associated CHARGE signs in CHH were not systematically examined.MethodsRare sequencing variants (RSVs) in CHD7 were identified through exome sequencing in 116 CHH probands, and were interpreted according to American College of Medical Genetics and Genomics guidelines...
November 16, 2017: Genetics in Medicine: Official Journal of the American College of Medical Genetics
https://www.readbyqxmd.com/read/29141312/-clinical-manifestation-and-gene-analyses-of-15-patients-with-intellectual-disability-or-developmental-delay-complicated-with-congenital-nystagmus
#5
Z J Gao, Q Jiang, Q Chen, K M Xu, Z Q Liu, X B Chen, X L Chen
Objective: To analyze the clinical and genetic features of 15 cases with intellectual disability or developmental delay (ID/DD) complicated with congenital nystagmus. Method: The clinical characteristics and the results of laboratory tests, images and genetics of 15 patients with ID/DD complicated with congenital nystagmus, confirmed by gene diagnosis in the Department of Neurology, Children's Hospital Affiliated to Capital Institute of Pediatrics from March 2015 to October 2016, were retrospectively analyzed...
November 2, 2017: Zhonghua Er Ke za Zhi. Chinese Journal of Pediatrics
https://www.readbyqxmd.com/read/29138069/traumatic-fractures-of-the-cervical-spine-analysis-of-changes-in-incidence-etiology-concurrent-injuries-and-complications-among-488-262-patients-from-2005-2013
#6
Peter G Passias, Gregory W Poorman, Frank A Segreto, Cyrus M Jalai, Samantha R Horn, Cole A Bortz, Dennis Vasquez-Montes, Bassel G Diebo, Shaleen Vira, Olivia J Bono, Rafael De La Garza-Ramos, John Y Moon, Charles Wang, Brandon P Hirsch, Peter L Zhou, Michael Gerling, Heiko Koller, Virginie Lafage
OBJECTIVE: The etiologies and epidemiology of traumatic cervical spine fracture have not been described with sufficient power or recency. Our goal is to describe demographics, incidence, etiology, spinal cord injuries (SCIs), concurrent injuries, treatments, and complications of traumatic cervical spine fractures. METHODS: Retrospective review of the Nationwide Inpatient Sample. ICD-9 E-Codes identified trauma cases from 2005-2013. Patients with cervical fracture were isolated...
November 11, 2017: World Neurosurgery
https://www.readbyqxmd.com/read/29126301/coagulation-testing-in-the-core-laboratory
#7
William E Winter, Sherri D Flax, Neil S Harris
Primary hemostasis begins with endothelial injury. VWF, produced by endothelial cells, binds to platelets and links them to subendothelial collagen. Platelet-derived ADP and thromboxane activate non-adhered platelets via their GPIIb/IIIa receptors, allowing these platelets to participate in platelet aggregation. Secondary hemostasis is initiated with the binding of factor VII to extravascular tissue factor (TF). Factors II, VII, IX and X are vitamin K-dependent factors. The role of vitamin K is to assist in the addition of gamma carboxylate groups to glutamic acids in the "GLA" domains of these factors...
November 8, 2017: Laboratory Medicine
https://www.readbyqxmd.com/read/29125674/women-s-preference-for-non-invasive-prenatal-dna-testing-nipt-versus-chromosomal-microarray-after-screening-for-down-syndrome-a-prospective-study
#8
Yvonne Kwun Yue Cheng, Wing Cheong Leung, Tak Yeung Leung, Kwong Wai Choy, Rossa Wai Kwun Chiu, Tsz-Kin Lo, Ka Yin Kwok, Daljit Singh Sahota
OBJECTIVE: To examine preference for follow-up test in women screened high or intermediate risk in 1(st) or 2(nd) trimester Down syndrome screening. DESIGN: Prospective cohort study. SETTING: Three public hospitals in Hong Kong, China. SAMPLE: Women with term high risk ≥ 1:250 (HR) or intermediate risk 1:251-1:1200 (IR). METHODS: Women screened high risk were asked to decide among 1) an invasive test plus chromosomal microarray (CMA) to obtain more detailed fetal genetic information, 2) a non-invasive cell free prenatal DNA screening (NIPT) to detect trisomies 13, 18 and 21 to avoid procedure related miscarriage, and 3) decline further testing...
November 10, 2017: BJOG: An International Journal of Obstetrics and Gynaecology
https://www.readbyqxmd.com/read/29121350/individualized-fsh-dosing-based-on-ovarian-reserve-testing-in-women-starting-ivf-icsi-a-multicentre-trial-and-cost-effectiveness-analysis
#9
Theodora C van Tilborg, Simone C Oudshoorn, Marinus J C Eijkemans, Monique H Mochtar, Ron J T van Golde, Annemieke Hoek, Walter K H Kuchenbecker, Kathrin Fleischer, Jan Peter de Bruin, Henk Groen, Madelon van Wely, Cornelis B Lambalk, Joop S E Laven, Ben Willem J Mol, Frank J M Broekmans, Helen L Torrance
STUDY QUESTION: Is there a difference in live birth rate and/or cost-effectiveness between antral follicle count (AFC)-based individualized FSH dosing or standard FSH dosing in women starting IVF or ICSI treatment? SUMMARY ANSWER: In women initiating IVF/ICSI, AFC-based individualized FSH dosing does not improve live birth rates or reduce costs as compared to a standard FSH dose. WHAT IS KNOWN ALREADY: In IVF or ICSI, ovarian reserve testing is often used to adjust the FSH dose in order to normalize ovarian response and optimize live birth rates...
November 7, 2017: Human Reproduction
https://www.readbyqxmd.com/read/29099443/association-of-response-to-inhaled-nitric-oxide-and-duration-of-mechanical-ventilation-in-pediatric-acute-respiratory-distress-syndrome
#10
Jasmine C Dowell, Neal J Thomas, Nadir Yehya
OBJECTIVES: Literature regarding appropriate use of inhaled nitric oxide for pediatric acute respiratory distress syndrome is sparse. This study aims to determine if positive response to inhaled nitric oxide is associated with decreased mortality and duration of mechanical ventilation in pediatric acute respiratory distress syndrome. DESIGN: Retrospective cohort study. SETTING: Large pediatric academic medical center. PATIENTS OR SUBJECTS: One hundred sixty-one children with pediatric acute respiratory distress syndrome and inhaled nitric oxide exposure for greater than or equal to 1 hour within 3 days of pediatric acute respiratory distress syndrome onset...
November 2017: Pediatric Critical Care Medicine
https://www.readbyqxmd.com/read/29082627/gastrointestinal-and-feeding-difficulties-in-charge-syndrome-a-review-from-head-to-toe
#11
REVIEW
Kim D Blake, Alexandra S Hudson
CHARGE syndrome is an autosomal dominant genetic condition that is primarily diagnosed based on clinical features, with genetic testing available for confirmation. The CHARGE mnemonic stands for some of the common characteristics: coloboma, heart defects, atresia/stenosis of the choanae, retardation of growth/development, genitourinary anomalies, and ear abnormalities (CHARGE). However, many of the common clinical features are not captured by this mnemonic, including cranial nerve dysfunction, considered by some to be one of the major diagnostic criteria...
October 30, 2017: American Journal of Medical Genetics. Part C, Seminars in Medical Genetics
https://www.readbyqxmd.com/read/29082625/charged-with-neural-crest-defects
#12
REVIEW
Silke Pauli, Ruchi Bajpai, Annette Borchers
Neural crest cells are highly migratory pluripotent cells that give rise to diverse derivatives including cartilage, bone, smooth muscle, pigment, and endocrine cells as well as neurons and glia. Abnormalities in neural crest-derived tissues contribute to the etiology of CHARGE syndrome, a complex malformation disorder that encompasses clinical symptoms like coloboma, heart defects, atresia of the choanae, retarded growth and development, genital hypoplasia, ear anomalies, and deafness. Mutations in the chromodomain helicase DNA-binding protein 7 (CHD7) gene are causative of CHARGE syndrome and loss-of-function data in different model systems have firmly established a role of CHD7 in neural crest development...
October 30, 2017: American Journal of Medical Genetics. Part C, Seminars in Medical Genetics
https://www.readbyqxmd.com/read/29082623/behavior-in-charge-syndrome
#13
REVIEW
Timothy S Hartshorne, Kasee K Stratton, David Brown, Shanti Madhavan-Brown, Megan C Schmittel
Unusual behavior is often associated with genetic syndromes, and may constitute a behavioral phenotype. In contrast to providing a psychiatric diagnosis, a behavioral phenotype describes what is unique to the behavior associated with different syndromes. While behaviors in CHARGE are as complex and variable as other aspects of the syndrome, there are some commonalities that raise the question of common sources for these behaviors. This article addresses how pain, sensory issues, and anxiety may impact the behavior of individuals with CHARGE syndrome, and how the development of self-regulation skills might help to mitigate some of the behaviors...
October 30, 2017: American Journal of Medical Genetics. Part C, Seminars in Medical Genetics
https://www.readbyqxmd.com/read/29082607/inner-ear-manifestations-in-charge-abnormalities-treatments-animal-models-and-progress-toward-treatments-in-auditory-and-vestibular-structures
#14
REVIEW
Daniel I Choo, Kareem O Tawfik, Donna M Martin, Yehoash Raphael
The inner ear contains the sensory organs for hearing and balance. Both hearing and balance are commonly affected in individuals with CHARGE syndrome (CS), an autosomal dominant condition caused by heterozygous pathogenic variants in the CHD7 gene. Semicircular canal dysplasia or aplasia is the single most prevalent feature in individuals with CHARGE leading to deficient gross motor skills and ambulation. Identification of CHD7 as the major gene affected in CHARGE has enabled acceleration of research in this field...
October 30, 2017: American Journal of Medical Genetics. Part C, Seminars in Medical Genetics
https://www.readbyqxmd.com/read/29080734/n%C3%A2-268-diagnostic-et-prise-en-charge-du-syndrome-d-hyperstimulation-ovarienne
#15
Doron Shmorgun, Paul Claman
No abstract text is available yet for this article.
November 2017: Journal of Obstetrics and Gynaecology Canada: JOGC, Journal D'obstétrique et Gynécologie du Canada: JOGC
https://www.readbyqxmd.com/read/29078297/increased-intracellular-ca-2-concentrations-prevent-membrane-localization-of-ph-domains-through-the-formation-of-ca-2-phosphoinositides
#16
Jin Ku Kang, Ok-Hee Kim, June Hur, So Hee Yu, Santosh Lamichhane, Jin Wook Lee, Uttam Ojha, Jeong Hee Hong, Cheol Soon Lee, Ji-Young Cha, Young Jae Lee, Seung-Soon Lm, Young Joo Park, Cheol Soo Choi, Dae Ho Lee, In-Kyu Lee, Byung-Chul Oh
Insulin resistance, a key etiological factor in metabolic syndrome, is closely linked to ectopic lipid accumulation and increased intracellular Ca(2+) concentrations in muscle and liver. However, the mechanism by which dysregulated intracellular Ca(2+) homeostasis causes insulin resistance remains elusive. Here, we show that increased intracellular Ca(2+) acts as a negative regulator of insulin signaling. Chronic intracellular Ca(2+) overload in hepatocytes during obesity and hyperlipidemia attenuates the phosphorylation of protein kinase B (Akt) and its key downstream signaling molecules by inhibiting membrane localization of pleckstrin homology (PH) domains...
November 7, 2017: Proceedings of the National Academy of Sciences of the United States of America
https://www.readbyqxmd.com/read/29073545/in-vitro-structure-specific-zn-ii-induced-adipogenesis-and-structure-function-bioreactivity-correlations
#17
E Halevas, O Tsave, M Yavropoulou, J G Yovos, A Hatzidimitriou, V Psycharis, A Salifoglou
The advent of Zn(II) metallodrugs in metabolic syndrome pathologies generates a strong challenge toward synthetic endeavors targeting well-defined, atoxic and biologically active binary/ternary species of Zn(II). Proper formulation of that metal ion's coordination sphere sets the stage for construction of appropriately configured Schiff ligands based on tromethamine and variably modified vanillin core components. The arising Schiff ligands react with Zn(II) in a defined stoichiometry, thereby delivering new binary Zn(II)-L species with defined physicochemical properties...
September 6, 2017: Journal of Inorganic Biochemistry
https://www.readbyqxmd.com/read/29070607/contribution-of-de-novo-and-mosaic-tp53-mutations-to-li-fraumeni-syndrome
#18
Mariette Renaux-Petel, Françoise Charbonnier, Jean-Christophe Théry, Pierre Fermey, Gwendoline Lienard, Jacqueline Bou, Sophie Coutant, Myriam Vezain, Edwige Kasper, Steeve Fourneaux, Sandrine Manase, Maud Blanluet, Bruno Leheup, Ludovic Mansuy, Jacqueline Champigneulle, Céline Chappé, Michel Longy, Nicolas Sévenet, Brigitte Bressac-de Paillerets, Léa Guerrini-Rousseau, Laurence Brugières, Olivier Caron, Jean-Christophe Sabourin, Isabelle Tournier, Stéphanie Baert-Desurmont, Thierry Frébourg, Gaëlle Bougeard
BACKGROUND: Development of tumours such as adrenocortical carcinomas (ACC), choroid plexus tumours (CPT) or female breast cancers before age 31 or multiple primary cancers belonging to the Li-Fraumeni (LFS) spectrum is, independently of the familial history, highly suggestive of a germline TP53 mutation. The aim of this study was to determine the contribution of de novo and mosaic mutations to LFS. METHODS AND RESULTS: Among 328 unrelated patients harbouring a germline TP53 mutation identified by Sanger sequencing and/or QMPSF, we could show that the mutations had occurred de novo in 40 cases, without detectable parental age effect...
October 25, 2017: Journal of Medical Genetics
https://www.readbyqxmd.com/read/29067285/decreasing-total-medication-exposure-and-length-of-stay-while-completing-withdrawal-for-neonatal-abstinence-syndrome-during-the-neonatal-hospital-stay
#19
Lori A Devlin, Timothy Lau, Paula G Radmacher
INTRODUCTION: Neonatal abstinence syndrome (NAS) is a rapidly growing public health concern that has considerably increased health-care utilization and health-care costs. In an effort to curtail costs, attempts have been made to complete withdrawal as an outpatient. Outpatient therapy has been shown to prolong exposure to medications, which may negatively impact neurodevelopmental and behavioral outcomes. We hypothesized that the implementation of a modified NAS protocol would decrease total drug exposure and length of stay while allowing for complete acute drug withdrawal during the neonatal hospital stay...
2017: Frontiers in Pediatrics
https://www.readbyqxmd.com/read/29049554/genetic-association-of-major-depression-with-atypical-features-and-obesity-related-immunometabolic-dysregulations
#20
Yuri Milaneschi, Femke Lamers, Wouter J Peyrot, Bernhard T Baune, Gerome Breen, Abbas Dehghan, Andreas J Forstner, Hans J Grabe, Georg Homuth, Carol Kan, Cathryn Lewis, Niamh Mullins, Matthias Nauck, Giorgio Pistis, Martin Preisig, Margarita Rivera, Marcella Rietschel, Fabian Streit, Jana Strohmaier, Alexander Teumer, Sandra Van der Auwera, Naomi R Wray, Dorret I Boomsma, Brenda W J H Penninx
Importance: The association between major depressive disorder (MDD) and obesity may stem from shared immunometabolic mechanisms particularly evident in MDD with atypical features, characterized by increased appetite and/or weight (A/W) during an active episode. Objective: To determine whether subgroups of patients with MDD stratified according to the A/W criterion had a different degree of genetic overlap with obesity-related traits (body mass index [BMI] and levels of C-reactive protein [CRP] and leptin)...
October 18, 2017: JAMA Psychiatry
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