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https://www.readbyqxmd.com/read/29159873/orthopaedic-manifestations-within-the-22q11-2-deletion-syndrome-a-systematic-review
#1
Jelle F Homans, Isabel N Tromp, Dino Colo, Tom P C Schlösser, Moyo C Kruyt, Vincent F X Deeney, Terrence B Crowley, Donna M McDonald-McGinn, René M Castelein
The 22q11.2 Deletion Syndrome (22q11.2DS) is the most common microdeletion syndrome with an estimated prevalence of 1:4,000 live births. 22q11.2DS is known to have wide phenotypic variability, including orthopaedic manifestations. The purpose of this systematic review is to increase the awareness of orthopaedic manifestations associated with 22q11.2DS. This systematic review was performed according to the PRISMA Guidelines. Original epidemiological studies on the prevalence of orthopaedic manifestations within 22q11...
November 21, 2017: American Journal of Medical Genetics. Part A
https://www.readbyqxmd.com/read/29159871/immunodeficiency-in-charge-syndrome
#2
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/29154491/does-differential-visual-exploration-contribute-to-visual-memory-impairments-in-22q11-2-microdeletion-syndrome
#3
M Bostelmann, B Glaser, A Zaharia, S Eliez, M Schneider
BACKGROUND: Chromosome 22q11.2 microdeletion syndrome (22q11.2DS) is a genetic syndrome characterised by a unique cognitive profile. Individuals with the syndrome present several non-verbal deficits, including visual memory impairments and atypical exploration of visual information. In this study, we seek to understand how visual attention may contribute to memory difficulties in 22q11.2DS by tracking eye movements during the encoding phase of a visual short-term memory task. METHOD: Eye movements were recorded during a computerised version of the multiple-choice Benton Visual Retention Test, which consisted of exploring and then recognising complex visual stimuli...
December 2017: Journal of Intellectual Disability Research: JIDR
https://www.readbyqxmd.com/read/29152155/chibby-1-a-new-component-of-%C3%AE-catenin-signaling-in-chronic-myeloid-leukemia
#4
REVIEW
Manuela Mancini, Simona Soverini, Gabriele Gugliotta, Maria Alessandra Santucci, Gianantonio Rosti, Michele Cavo, Giovanni Martinelli, Fausto Castagnetti
Chibby 1 (CBY1) is a small and evolutionarily conserved protein, which act as β-catenin antagonist. CBY1 is encoded by C22orf2 (22q13.1) Its antagonistic function on β-catenin involves the direct interaction with: The C-terminal activation domain of β-catenin, which hinders β-catenin binding with Tcf/Lef transcription factors hence repressing β-catenin transcriptional activation. 14-3-3 scaffolding proteins (σ or ξ), which drive CBY1 nuclear export into a stable tripartite complex with β-catenin. The relative proximity of C22orf2 gene encoding for CBY1 to the BCR breakpoint on chromosome 22q11, whose translocation and rearrangement with the c-ABL is the causative event of chronic myeloid leukemia (CML), suggested that gene haploinsufficiency may play a role in the disease pathogenesis and progression...
October 20, 2017: Oncotarget
https://www.readbyqxmd.com/read/29147671/distal-22q11-2-microduplication-case-report-and-review-of-the-literature
#5
Elana Pinchefsky, Laurence Laneuville, Myriam Srour
Distal chromosome 22q11.2 microduplications are associated with a wide range of phenotypes and unclear pathogenicity. The authors report on a 3-year-old girl with global developmental delay harboring a de novo 1.24 Mb distal chromosome 22q11.2 microduplication and a paternally inherited 0.25 Mb chromosome 4p14 microduplication. The authors review clinical features of 30 reported cases of distal 22q11.2 duplications. Common features include developmental delay (93%), neuropsychiatric features (26%), and nonspecific facial dysmorphisms (74%)...
January 2017: Child neurology open
https://www.readbyqxmd.com/read/29146941/developmental-excitatory-to-inhibitory-gaba-polarity-switch-is-disrupted-in-22q11-2-deletion-syndrome-a-potential-target-for-clinical-therapeutics
#6
Hayder Amin, Federica Marinaro, Davide De Pietri Tonelli, Luca Berdondini
Individuals with 22q11.2 microdeletion syndrome (22q11.2 DS) show cognitive and behavioral dysfunctions, developmental delays in childhood and risk of developing schizophrenia and autism. Despite extensive previous studies in adult animal models, a possible embryonic root of this syndrome has not been determined. Here, in neurons from a 22q11.2 DS mouse model (Lgdel (+/-)), we found embryonic-premature alterations in the neuronal chloride cotransporters indicated by dysregulated NKCC1 and KCC2 protein expression levels...
November 16, 2017: Scientific Reports
https://www.readbyqxmd.com/read/29143717/white-matter-abnormalities-in-22q11-2-deletion-syndrome-patients-showing-cognitive-decline
#7
Jasper Olivier Nuninga, Marc Marijn Bohlken, Sanne Koops, Ania M Fiksinski, René C W Mandl, Elemi J Breetvelt, Sasja N Duijff, René S Kahn, Iris E C Sommer, Jacob A S Vorstman
BACKGROUND: Decline in cognitive functioning precedes the first psychotic episode in the course of schizophrenia and is considered a hallmark symptom of the disorder. Given the low incidence of schizophrenia, it remains a challenge to investigate whether cognitive decline coincides with disease-related changes in brain structure, such as white matter abnormalities. The 22q11.2 deletion syndrome (22q11DS) is an appealing model in this context, as 25% of patients develop psychosis. Furthermore, we recently showed that cognitive decline also precedes the onset of psychosis in individuals with 22q11DS...
November 16, 2017: Psychological Medicine
https://www.readbyqxmd.com/read/29142665/treatment-of-22q11-2-deletion-syndrome-associated-schizophrenia-with-comorbid-anxiety-and-panic-disorder
#8
Candace B Borders, Amanda Suzuki, David Safani
No abstract text is available yet for this article.
October 19, 2017: Mental Illness
https://www.readbyqxmd.com/read/29141125/elevated-proinflammatory-markers-in-22q11-2-deletion-syndrome-are-associated-with-psychosis-and-cognitive-deficits
#9
Ehud Mekori-Domachevsky, Michal Taler, Yehuda Shoenfeld, Michael Gurevich, Polina Sonis, Omri Weisman, Abraham Weizman, Doron Gothelf
OBJECTIVE: 22q11.2 deletion syndrome (22q11.2DS) is a neurogenetic disorder whose phenotype includes high rates of a schizophrenia-like psychotic disorder and immune system abnormalities. Thus, 22q11.2DS is an ideal model for studying the relationship between psychosis and inflammation. The aim of the present study was to identify inflammatory markers that may play a role in the pathophysiologic pathways associated with psychosis and cognitive deficits in 22q11.2DS. METHODS: Forty-nine individuals with 22q11...
November 14, 2017: Journal of Clinical Psychiatry
https://www.readbyqxmd.com/read/29141024/quantifying-indices-of-short-and-long-range-white-matter-connectivity-at-each-cortical-vertex
#10
Maria Carmela Padula, Marie Schaer, Elisa Scariati, A Kadir Mutlu, Daniela Zöller, Maude Schneider, Stephan Eliez
Several neurodevelopmental diseases are characterized by impairments in cortical morphology along with altered white matter connectivity. However, the relationship between these two measures is not yet clear. In this study, we propose a novel methodology to compute and display metrics of white matter connectivity at each cortical point. After co-registering the extremities of the tractography streamlines with the cortical surface, we computed two measures of connectivity at each cortical vertex: the mean tracts' length, and the proportion of short- and long-range connections...
2017: PloS One
https://www.readbyqxmd.com/read/29132265/time-based-prospective-memory-in-children-and-adolescents-with-22q11-2-deletion-syndrome
#11
Céline Souchay, Lydia Dubourg, Nicola Ballhausen, Maude Schneider, Charline Cerf, Katharina Schnitzspahn, Laurence Faivre, Matthias Kliegel, Stephan Eliez
OBJECTIVE: 22q11.2 deletion syndrome, also known as velo-cardio-facial syndrome (VCFS) is a genetic disorder caused by a microdeletion on chromosome 22q11.2 and characterized by marked impairment in visual attention and executive function. The present study examined if this cognitive deficit extends to prospective memory (the type of memory involved in remembering to perform actions in the future). METHOD: 20 participants with 22q11.2DS aged between 6 and 14 were included in the study as well as 22 typically developing individuals (TDC) aged 6-12...
November 14, 2017: Clinical Neuropsychologist
https://www.readbyqxmd.com/read/29131052/prenatal-screening-for-22q11-2-deletion-using-a-targeted-microarray-based-cell-free-dna-test
#12
Maximilian Schmid, Eric Wang, Patrick E Bogard, Elisa Bevilacqua, Coleen Hacker, Susie Wang, Jigna Doshi, Karen White, Jennifer Kaplan, Andrew Sparks, Jacques C Jani, Renee Stokowski
OBJECTIVE: To determine the performance of a targeted microarray-based cell-free DNA (cfDNA) test (Harmony Prenatal Test®) for the identification of pregnancies at increased risk for 22q11.2 deletion. METHODS: Test performance was determined in 2 steps including a total of 1,953 plasma samples. Analytical validation was performed in 1,736 plasma samples. Clinical verification of performance was performed in an additional 217 prospectively ascertained samples from pregnancies with fetal deletion status determined by diagnostic testing...
November 8, 2017: Fetal Diagnosis and Therapy
https://www.readbyqxmd.com/read/29130988/recurrent-copy-number-variants-associated-with-syndromic-short-stature-of-unknown-cause
#13
Thais K Homma, Ana C V Krepischi, Tatiane K Furuya, Rachel S Honjo, Alexsandra C Malaquias, Debora R Bertola, Silvia S Costa, Ana P Canton, Rosimeire A Roela, Bruna L Freire, Chong A Kim, Carla Rosenberg, Alexander A L Jorge
BACKGROUND/AIMS: Genetic imbalances are responsible for many cases of short stature of unknown etiology. This study aims to identify recurrent pathogenic copy number variants (CNVs) in patients with syndromic short stature of unknown cause. METHODS: We selected 229 children with short stature and dysmorphic features, developmental delay, and/or intellectual disability, but without a recognized syndrome. All patients were evaluated by chromosomal microarray (array-based comparative genomic hybridization/single nucleotide polymorphism array)...
November 9, 2017: Hormone Research in Pædiatrics
https://www.readbyqxmd.com/read/29119811/22q11-deletion-syndrome-parents-and-children-s-experiences-of-educational-and-healthcare-provision-in-the-united-kingdom
#14
Wendy Cohen, Elspeth McCartney, Lisa Crampin
22q11 deletion syndrome (22q11DS) is a genetic syndrome, prevalence around 1:4000-1:6000 live births, with a complex array of associated features, impacting on healthcare and educational support. This study reports the perceptions of families and individuals with 22q11DS in relation to these needs. Individuals and families of those with 22q11DS were approached though two national charities - the Max Appeal and 22Crew. An initial observational survey design was used to gather views via questions probing access to healthcare and educational experiences...
June 2017: Journal of Child Health Care: for Professionals Working with Children in the Hospital and Community
https://www.readbyqxmd.com/read/29090080/critical-region-within-22q11-2-linked-to-higher-rate-of-autism-spectrum-disorder
#15
Caitlin C Clements, Tara L Wenger, Alisa R Zoltowski, Jennifer R Bertollo, Judith S Miller, Ashley B de Marchena, Lauren M Mitteer, John C Carey, Benjamin E Yerys, Elaine H Zackai, Beverly S Emanuel, Donna M McDonald-McGinn, Robert T Schultz
BACKGROUND: Previous studies have reported no clear critical region for medical comorbidities in children with deletions or duplications of 22q11.2. The purpose of this study was to evaluate whether individuals with small nested deletions or duplications of the LCR-A to B region of 22q11.2 show an elevated rate of autism spectrum disorder (ASD) compared to individuals with deletions or duplications that do not include this region. METHODS: We recruited 46 patients with nested deletions (n = 33) or duplications (n = 13) of 22q11...
2017: Molecular Autism
https://www.readbyqxmd.com/read/29088933/psychosis-beyond-the-22q11-2-deletion-do-additional-genetic-factors-play-a-role
#16
Fernando S Goes, Akira Sawa
No abstract text is available yet for this article.
November 1, 2017: American Journal of Psychiatry
https://www.readbyqxmd.com/read/29083072/health-related-quality-of-life-in-22q11-2-deletion-syndrome-the-child-s-perspective
#17
Patrick Joyce, Claudia O'Rourke, Brett McDermott, Helen Heussler
AIM: The 22q11.2 deletion syndrome (22qDS) is a genetic syndrome that results in a complex physical, behavioural and psychological phenotype. Health-related quality of life (HRQOL) is an established clinical outcome that has been minimally studied in children with 22qDS. The purpose of this study was to explore HRQOL among children and adolescents with 22qDS from the perspective of the child and to determine how their HRQOL measures compare to those of a healthy peer group and a chronic disease peer group...
October 30, 2017: Journal of Paediatrics and Child Health
https://www.readbyqxmd.com/read/29068465/array-cgh-analysis-in-patients-with-m%C3%A3-llerian-fusion-anomalies
#18
S Ledig, A C Tewes, J Hucke, T Römer, K Kapczuk, C Schippert, P Hillemanns, P Wieacker
Fusion anomalies of the Müllerian ducts are associated with an increased risk for miscarriage and premature labor. In most cases polygenic-multifactorial inheritance can be assumed but autosomal-dominant inheritance with reduced penetrance and variable manifestation should be considered. We performed array-CGH (comparative genomic hybridization) analysis in a cohort of 103 patients with Müllerian fusion anomalies. In eight patients we detected microdeletions and microduplications in chromosomal regions 17q12, 22q11...
October 25, 2017: Clinical Genetics
https://www.readbyqxmd.com/read/29062712/weight-loss-induced-by-quetiapine-in-a-22q11-2ds-patient
#19
Caroline Demily, Alice Poisson, Florence Thibaut, Nicolas Franck
No abstract text is available yet for this article.
December 2017: Molecular Genetics and Metabolism Reports
https://www.readbyqxmd.com/read/29055063/added-value-of-chromosomal-microarray-analysis-cma-over-karyotyping-in-early-pregnancy-loss-a-systematic-review-and-meta-analysis
#20
REVIEW
Montse Pauta, Maribel Grande, Laia Rodriguez-Revenga, Elena Kolomietz, Antoni Borrell
OBJECTIVE: To perform a systematic review of the literature and meta-analysis to estimate the added value of chromosomal microarray analysis (CMA) over karyotyping in early pregnancy loss. METHOD: This was a systematic review conducted in accordance with PRISMA criteria. All articles identified in PubMed, Ovid Medline and Web of Science, from January 2000 to April 2017 describing copy number variants (CNVs) in early pregnancy losses (up to 20 weeks) were included...
October 21, 2017: Ultrasound in Obstetrics & Gynecology
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