keyword
MENU ▼
Read by QxMD icon Read
search

william-beuren

keyword
https://www.readbyqxmd.com/read/28626595/williams-beuren-syndrome-and-congenital-lobar-emphysema-uncommon-association-with-common-pathology
#1
Timothy Andrew Walsh, Krishna Revanna Gopagondanahalli, Atul Malhotra
INTRODUCTION: Congenital lobar emphysema (CLE) and Williams-Beuren Syndrome are two rare conditions that have only been reported together in a single case study. CASE PRESENTATION: We report another case of a male Caucasian newborn with nonspecific initial respiratory distress, with detection of CLE on repeat chest X-ray on Day 25 of life and concurrent ventricular septal defect, supravalvular aortic stenosis, and branch pulmonary stenosis, in whom a 7q11.23 deletion consistent with Williams-Beuren Syndrome was made...
2017: Case Reports in Pediatrics
https://www.readbyqxmd.com/read/28608466/crystal-structure-of-human-wbscr16-an-rcc1-like-protein-in-mitochondria
#2
Masako Koyama, Taeko Sasaki, Narie Sasaki, Yoshiyuki Matsuura
WBSCR16 (Williams-Beuren Syndrome Chromosomal Region 16) gene is located in a large deletion region of Williams-Beuren syndrome (WBS), which is a neurodevelopmental disorder. Although the relationship between WBSCR16 and WBS remains unclear, it has been reported that WBSCR16 is a member of a functional module that regulates mitochondrial 16S rRNA abundance and intra-mitochondrial translation. WBSCR16 has RCC1 (Regulator of Chromosome Condensation 1)-like amino acid sequence repeats but the function of WBSCR16 appears to be different from that of other RCC1 superfamily members...
June 12, 2017: Protein Science: a Publication of the Protein Society
https://www.readbyqxmd.com/read/28584589/computerized-tomography-use-in-williams-beuren-syndrome-aortopathy
#3
Neale Nicola Kalis, Leena Khalifa Sulaibikh, Saud Rashid Al Amer, Haya Yousif Al Amer
Williams-Beuren syndrome is a multisystem genetic disorder caused by hemizygous deletion on chromosome 7q11.23, encompassing about 28 genes including the elastin gene, ELN. Cardiovascular abnormalities are frequent and are related to elastin insufficiency. These abnormalities include supravalvular aortic stenosis (SVAS) in 70% of case, pulmonic valve stenosis, and renal artery stenosis. Definitive therapy for supravalvar aortic stenosis consists of surgical correction of the arteriopathies. Outcomes after surgical correction of SVAS depend on the extent of the arteriopathy and the presence of other associated lesions...
January 2017: Heart Views: the Official Journal of the Gulf Heart Association
https://www.readbyqxmd.com/read/28574231/a-new-diagnosis-of-williams-beuren-syndrome-in-a-49-year-old-man-with-severe-bullous-emphysema
#4
Monica H Wojcik, Nikkola Carmichael, Frederick R Bieber, Daniel C Wiener, Rachna Madan, Barbara R Pober, Benjamin A Raby
Williams-Beuren syndrome (WBS) is a chromosomal microdeletion syndrome typically presenting with intellectual disability, a unique personality, a characteristic facial appearance, and cardiovascular disease. Several clinical features of WBS are thought to be due to haploinsufficiency of elastin (ELN), as the ELN locus is included within the WBS critical region at 7q11.23. Emphysema, a disease attributed to destruction of pulmonary elastic fibers, has been reported in patients without WBS who have pathogenic variants in ELN but only once (in one patient) in WBS...
June 2, 2017: American Journal of Medical Genetics. Part A
https://www.readbyqxmd.com/read/28503444/keratoconus-associated-with-williams-beuren-syndrome-a-new-case-report
#5
Soraya Mediero, Oriana D'Anna Mardero, Ana Boto de Los Bueis, Susana Noval Martín, Sixto García-Miñaur
No abstract text is available yet for this article.
2017: International Journal of Ophthalmology
https://www.readbyqxmd.com/read/28443262/a-rare-association-of-central-hypothyroidism-and-adrenal-insufficiency-in-a-boy-with-williams-beuren-syndrome
#6
Devi Dayal, Dinesh Giri, Senthil Senniappan
Primary hypothyroidism related to morphological and volumetric abnormalities of the thyroid gland is one of the commonest of several endocrine dysfunctions in Williams-Beuren syndrome (WBS). We report a 10-month-old boy with WBS who presented with central hypothyroidism. During the neonatal period, he had prolonged jaundice, feeding difficulties and episodes of colic that continued during early infancy. Additionally, there was slowing of growth and mild developmental delay. He underwent surgical repair for supravalvular aortic stenosis at 6 months of age...
March 2017: Annals of Pediatric Endocrinology & Metabolism
https://www.readbyqxmd.com/read/28397211/-application-of-chromosomal-microarray-analysis-for-the-diagnosis-of-children-with-intellectual-disability-developmental-delay-and-a-normal-karytype
#7
Ting Hu, Hongmei Zhu, Zhu Zhang, Jiamin Wang, Hongqian Liu, Xuemei Zhang, Haixia Zhang, Ze Du, Lingping Li, He Wang, Shanling Liu
OBJECTIVE: To assess the value of chromosomal microarray analysis (CMA) for the diagnosis of children with intellectual disability/developmental delay (ID/DD) but a normal karytype. METHODS: Peripheral blood samples from 92 ID/DD patients were analyzed with CMA using Affymetrix CytoScan 750K arrays. The results were analyzed by ChAS v3.0 software. RESULTS: Eighteen cases (19.57%) were detected with abnormalities by CMA, among which 10 cases were diagnosed with microdeletion/microduplication syndromes...
April 10, 2017: Zhonghua Yi Xue Yi Chuan Xue za Zhi, Zhonghua Yixue Yichuanxue Zazhi, Chinese Journal of Medical Genetics
https://www.readbyqxmd.com/read/28350066/dna-damage-response-defect-in-williams-beuren-syndrome
#8
David Guenat, Giuseppe Merla, Eric Deconinck, Christophe Borg, Pierre-Simon Rohrlich
Williams-Beuren syndrome (WBS, no. OMIM 194050) is a rare multisystem genetic disorder caused by a microdeletion on chromosome 7q11.23 and characterized by cardiovascular malformations, mental retardation, and a specific facial dysmorphism. Recently, we reported that a series of non‑Hodgkin's lymphoma occurs in children with WBS and thus hypothesized that a predisposition to cancer may be associated with this genetic disorder. The aim of the present study was to ascertain the role played by three genes hemizygously deleted in WBS (RFC2, GTF2I and BAZ1B) in DNA damage response pathways...
January 17, 2017: International Journal of Molecular Medicine
https://www.readbyqxmd.com/read/28277377/de-novo-williams-beuren-and-inherited-marfan-syndromes-in-a-patient-with-developmental-delay-and-lens-dislocation
#9
Magdalena Budisteanu, Sorina M Papuc, Andreea C Tutulan-Cunita, Bogdan Budisteanu, Eva Weis, Aurora Arghir, Ulrich Zechner, Oliver Bartsch
No abstract text is available yet for this article.
July 2017: Clinical Dysmorphology
https://www.readbyqxmd.com/read/28259930/high-resolution-single-nucleotide-polymorphism-arrays-identified-an-atypical-microdeletion-of-the-williams-beuren-syndrome-interval-in-a-patient-presenting-with-a-different-phenotype
#10
Shijun Hu, Yifeng Yang, Lin Liu, Zhiping Tan, Tianli Zhao
The present study aimed to identify the mutation causing an atypical syndrome. High-resolution single nucleotide polymorphism (SNP) arrays are considered to be a major detection method for submicroscopic chromosomal rearrangements smaller than 5 Mb in size. Genomic DNA samples of the patient and his parents were converted to a final concentration of 50 ng/ml. The Illumina BeadScan genotyping system and the HumanOmni1‑Quad Chip were employed to obtain the signal intensities of SNP probes. The patient presented with congenital heart disease, autism, mental retardation, growth retardation, hypercalcemia, nephroliths and cleft palate...
May 2017: Molecular Medicine Reports
https://www.readbyqxmd.com/read/28098859/dna-damage-response-defect-in-williams-beuren-syndrome
#11
David Guenat, Giuseppe Merla, Eric Deconinck, Christophe Borg, Pierre-Simon Rohrlich
Williams-Beuren syndrome (WBS, no. OMIM 194050) is a rare multisystem genetic disorder caused by a microdeletion on chromosome 7q11.23 and characterized by cardiovascular malformations, mental retardation, and a specific facial dysmorphism. Recently, we reported that a series of non‑Hodgkin's lymphoma occurs in children with WBS and thus hypothesized that a predisposition to cancer may be associated with this genetic disorder. The aim of the present study was to ascertain the role played by three genes hemizygously deleted in WBS (RFC2, GTF2I and BAZ1B) in DNA damage response pathways...
March 2017: International Journal of Molecular Medicine
https://www.readbyqxmd.com/read/28009100/rare-copy-number-variants-in-a-population-based-investigation-of-hypoplastic-right-heart-syndrome
#12
Aggeliki Dimopoulos, Robert J Sicko, Denise M Kay, Shannon L Rigler, Charlotte M Druschel, Michele Caggana, Marilyn L Browne, Ruzong Fan, Paul A Romitti, Lawrence C Brody, James L Mills
BACKGROUND: Hypoplastic right heart syndrome (HRHS) is a rare congenital defect characterized by underdevelopment of the right heart structures commonly accompanied by an atrial septal defect. Familial HRHS reports suggest genetic factor involvement. We examined the role of copy number variants (CNVs) in HRHS. METHODS: We genotyped 32 HRHS cases identified from all New York State live births (1998-2005) using Illumina HumanOmni2.5 microarrays. CNVs were called with PennCNV and prioritized if they were ≥20 Kb, contained ≥10 SNPs and had minimal overlap with CNVs from in-house controls, the Database of Genomic Variants, HapMap3, and Childrens Hospital of Philadelphia database...
January 20, 2017: Birth defects research
https://www.readbyqxmd.com/read/27984599/-application-of-chromosome-microarray-analysis-for-fetuses-with-multicystic-dysplastic-kidney
#13
Feifei Chen, Tingying Lei, Fang Fu, Ru Li, Yongling Zhang, Xiangyi Jing, Xin Yang, Jin Han, Li Zhen, Min Pan, Can Liao
OBJECTIVE: To explore the genetic etiology of fetuses with multicystic dysplastic kidney (MCDK) by chromosome microarray analysis (CMA). METHODS: Seventy-two fetuses with MCDK were analyzed with conventional cytogenetic technique, among which 30 fetuses with a normal karyotype were subjected to CMA analysis with Affymetrix CytoScan HD arrays by following the manufacturer's protocol. The data was analyzed with ChAS software. RESULTS: Conventional cytogenetic technique has revealed three fetuses (4...
December 10, 2016: Zhonghua Yi Xue Yi Chuan Xue za Zhi, Zhonghua Yixue Yichuanxue Zazhi, Chinese Journal of Medical Genetics
https://www.readbyqxmd.com/read/27938597/-diagnosis-of-a-case-with-williams-beuren-syndrome-with-nephrocalcinosis-using-chromosome-microarray-analysis
#14
S J Jin, M Liu, W J Long, X P Luo
Objective: To explore the clinical phenotypes and the genetic cause for a boy with unexplained growth retardation, nephrocalcinosis, auditory anomalies and multi-organ/system developmental disorders. Method: Routine G-banding and chromosome microarray analysis were applied to a child with unexplained growth retardation, nephrocalcinosis, auditory anomalies and multi-organ/system developmental disorders treated in the Department of Pediatrics of Tongji Hospital Affiliated to Tongji Medical College of Huazhong University of Science and Technology in September 2015 and his parents to conduct the chromosomal karyotype analysis and the whole genome scanning...
December 2, 2016: Zhonghua Er Ke za Zhi. Chinese Journal of Pediatrics
https://www.readbyqxmd.com/read/27876405/lower-urinary-tract-symptoms-in-children-and-adolescents-with-williams-beuren-syndrome
#15
Z M Sammour, J de Bessa, M Hisano, H Bruschini, C A Kim, M Srougi, C M Gomes
INTRODUCTION: Williams-Beuren syndrome (WBS) is a genetic condition caused by a microscopic deletion in the chromosome band 7q11.23. Individuals with WBS may present with congenital cardiovascular defects, neurodevelopmental disturbances and structural abnormalities of the urinary tract. Lower urinary tract symptoms (LUTS) seem to be frequent in this population, but studies on this topic are scarce and based on small case series. OBJECTIVE: To systematically evaluate the prevalence of lower urinary tract symptoms (LUTS) and the acquisition of bladder control in a large population with WBS...
November 2, 2016: Journal of Pediatric Urology
https://www.readbyqxmd.com/read/27867344/distal-7q11-23-duplication-an-emerging-microduplication-syndrome-a-case-report-and-further-characterisation
#16
Víctor Faundes, Lorena Santa María, Paulina Morales, Bianca Curotto, María M Parraguez
Chromosome 7q11.23 duplication syndrome is a well-recognised syndrome which involves the duplication of the same genes located in the Williams-Beuren critical region. However, in 2010, 4 patients were reported with a microduplication only in the HIP1 and YWHAG genes. We refer to this as a distal 7q11.23 duplication (dup7q11.23D). Here, we report the fifth de novo patient with dup7q11.23D, whose symptoms may be explained by YWHAG overexpression as was demonstrated recently in mice and obese patients. Finally, further studies will be necessary to delineate this emerging microduplication syndrome...
October 2016: Molecular Syndromology
https://www.readbyqxmd.com/read/27798933/a-pediatric-patient-with-a-cyp24a1-mutation-four-years-of-clinical-biochemical-and-imaging-follow-up
#17
Diana-Alexandra Ertl, Adalbert Raimann, Dagmar Csaicsich, Janina M Patsch, Franco Laccone, Gabriele Haeusler
BACKGROUND: A female infant was admitted to hospital due to failure to thrive. She presented hypercalcemia (4.09 mmol/L, normal range: 2.2-2.65 mmol/L), high 25-hydroxyvitamin D (283 nmol/L, normal range: 75-250 nmol/L), 1,25-dihydroxyvitamin D in the upper normal range, and low parathyroid hormone. Vitamin D intoxication was suspected. The patient had received routine rickets prophylaxis. METHODS: Williams-Beuren syndrome was genetically excluded. Sequencing of CYP24A1 showed 2 mutations: c...
2017: Hormone Research in Pædiatrics
https://www.readbyqxmd.com/read/27735799/celiac-disease-in-patients-with-williams-beuren-syndrome
#18
Ercan Mıhçı, Banu Güzel Nur, Sibel Berker-Karaüzüm, Aygen Yılmaz, Reha Artan
Celiac disease is an autoimmune, gastrointestinal disorder characterized by intolerance to the dietary grain protein gluten. An increased prevalence of celiac disease has been reported in Down syndrome and Turner syndrome, but there has been only few previous reports with respect to the association of celiac disease in Williams-Beuren syndrome. The aim of this study was to evaluate the frequency of celiac disease in our 24 Williams-Beuren syndrome patients. Gastrointestinal problems and celiac disease symptoms of patients were noted...
November 2015: Turkish Journal of Pediatrics
https://www.readbyqxmd.com/read/27617154/the-7q11-23-microduplication-syndrome-a-clinical-report-with-review-of-literature
#19
REVIEW
Elham Abbas, Devin M Cox, Teri Smith, Merlin G Butler
We report a 14-year-old adolescent girl with selective mutism (SM) and a 7q11.23 microduplication detected by chromosomal microarray (CMA) analysis and reviewed the literature from 18 published clinical reports. Our patient had specific phobias, SM, extreme anxiety, obesity, cutis marmorata, and a round appearing face with a short neck and over folded ears. We reviewed the published clinical, cognitive, behavioral, and cytogenetic findings grouped by speech and language delay, growth and development, craniofacial, clinical, and behavior and cognitive features due to the 7q11...
September 2016: Journal of Pediatric Genetics
https://www.readbyqxmd.com/read/27615053/phenotype-of-7q11-23-duplication-a-family-clinical-series
#20
Beth A Earhart, Marian E Williams, Irina Zamora, Linda Marie Randolph, Jodie K Votava-Smith, Stephanie N Marcy
Duplication 7q11.23 syndrome is the reciprocal of Williams-Beuren deletion syndrome. Studies have reported a recognizable phenotype, including autism, intellectual disability, speech, and language delay, social anxiety, and behavioral difficulties in these individuals. Previous studies revealed a variety of craniofacial abnormalities, brain malformations, and cardiac abnormalities, including aortic dilation. This patient series evaluates five family members aged 2 months to 35 years, all with confirmed 7q11...
January 2017: American Journal of Medical Genetics. Part A
keyword
keyword
87325
1
2
Fetch more papers »
Fetching more papers... Fetching...
Read by QxMD. Sign in or create an account to discover new knowledge that matter to you.
Remove bar
Read by QxMD icon Read
×

Search Tips

Use Boolean operators: AND/OR

diabetic AND foot
diabetes OR diabetic

Exclude a word using the 'minus' sign

Virchow -triad

Use Parentheses

water AND (cup OR glass)

Add an asterisk (*) at end of a word to include word stems

Neuro* will search for Neurology, Neuroscientist, Neurological, and so on

Use quotes to search for an exact phrase

"primary prevention of cancer"
(heart or cardiac or cardio*) AND arrest -"American Heart Association"