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cri du chat syndrome

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https://www.readbyqxmd.com/read/27729133/does-canal-wall-down-mastoidectomy-benefit-syndromic-children-with-congenital-aural-stenosis
#1
Phayvanh P Sjogren, Richard K Gurgel, Albert H Park
OBJECTIVES: To determine whether a canal wall down mastoidectomy can provide long-term benefit for children with aural stenosis. METHODS: Retrospective case series of children with congenital aural stenosis having undergone a canal wall down mastoidectomy over a twelve-year period at a tertiary children's hospital. RESULTS: Data from thirteen children who underwent a total of twenty canal wall down mastoidectomies for aural stenosis were reviewed...
November 2016: International Journal of Pediatric Otorhinolaryngology
https://www.readbyqxmd.com/read/27625854/inherited-5p-deletion-syndrome-due-to-paternal-balanced-translocation-phenotypic-heterogeneity-due-to-duplication-of-8q-and-12p
#2
Pankaj Sharma, Neerja Gupta, Madhumita R Chowdhury, Savita Sapra, Rashmi Shukla, Meena Lall, Madhulika Kabra
5p deletion syndrome or Cri du Chat syndrome is a autosomal deletion syndrome, caused by the de novo deletion of chromosome 5p in the majority of the cases. Clinical features include developmental delay, microcephaly, subtle facial dysmorphism and high-pitched cry. With the advent of newer techniques such as multiplex ligation-dependent probe amplification, rapid diagnosis is possible and chromosomal microarray helps in accurate delineation of the breakpoints. In this study, we characterized probands from two Indian families who had duplication of another chromosome in addition to deletion of 5p region...
September 2013: Journal of Pediatric Genetics
https://www.readbyqxmd.com/read/27569649/temporal-and-spatial-gait-parameters-in-children-with-cri-du-chat-syndrome-under-single-and-dual-task-conditions
#3
Laurel D Abbruzzese, Rachel Salazar, Maddie Aubuchon, Ashwini K Rao
AIM: To describe temporal and spatial gait characteristics in individuals with Cri du Chat syndrome (CdCS) and to explore the effects of performing concurrent manual tasks while walking. METHODS: The gait parameters of 14 participants with CdCS (mean age 10.3, range 3-20 years) and 14 age-matched controls (mean age 10.1, range 3-20 years) were collected using the GAITRite(®) instrumented walkway. All participants first walked without any concurrent tasks and then performed 2 motor dual task walking conditions (pitcher and tray)...
August 5, 2016: Gait & Posture
https://www.readbyqxmd.com/read/27475682/impact-of-rare-diseases-in-oral-health
#4
A Molina-García, L Castellanos-Cosano, G Machuca-Portillo, M Posada-de la Paz
BACKGROUND: Rare diseases (RD) are those that present a lower prevalence than 5 cases per 10.000 population. The main objective of this review was to study the effect on oral health in rare diseases, while the secondary objective of the study is theme upgrade. MATERIAL AND METHODS: Comparative observational case-control studies were analysed and a systematic review was conducted in PubMed. Each rare disease listed on the statistical data record of the Health Portal of the Ministry of Equality, Health and Social Policies Board of Andalusia was associated with "oral health"...
2016: Medicina Oral, Patología Oral y Cirugía Bucal
https://www.readbyqxmd.com/read/27380241/genetic-alterations-of-%C3%AE-catenin-nprap-neurojungin-ctnnd2-functional-implications-in-complex-human-diseases
#5
REVIEW
Qun Lu, Byron J Aguilar, Mingchuan Li, Yongguang Jiang, Yan-Hua Chen
Some genes involved in complex human diseases are particularly vulnerable to genetic variations such as single nucleotide polymorphism, copy number variations, and mutations. For example, Ras mutations account for over 30 % of all human cancers. Additionally, there are some genes that can display different variations with functional impact in different diseases that are unrelated. One such gene stands out: δ-catenin/NPRAP/Neurojungin with gene designation as CTNND2 on chromosome 5p15.2. Recent advances in genome wide association as well as molecular biology approaches have uncovered striking involvement of δ-catenin gene variations linked to complex human disorders...
October 2016: Human Genetics
https://www.readbyqxmd.com/read/27144168/cri-du-chat-syndrome-clinical-profile-and-chromosomal-microarray-analysis-in-six-patients
#6
Layla Damasceno Espirito Santo, Lília Maria Azevedo Moreira, Mariluce Riegel
Cri-du-chat syndrome is a chromosomal disorder caused by a deletion of the short arm of chromosome 5. The disease severity, levels of intellectual and developmental delay, and patient prognosis have been related to the size and position of the deletion. Aiming to establish genotype-phenotype correlations, we applied array-CGH to evaluate six patients carrying cytogenetically detected deletions of the short arm of chromosome 5 who were followed at a genetics community service. The patients' cytogenetic and clinical profiles were reevaluated...
2016: BioMed Research International
https://www.readbyqxmd.com/read/26872355/protein-energy-malnutrition-is-frequent-and-precocious-in-children-with-cri-du-chat-syndrome
#7
Violaine Lefranc, Arnaud de Luca, Régis Hankard
Protein-energy malnutrition (PEM) is poorly reported in cri du chat syndrome (CDCS) (OMIM #123450), a genetic disease that causes developmental delay and global growth retardation. The objective was to determine the nutritional status at different ages in children with CDCS and factors associated with PEM. A questionnaire focused on growth and nutritional care was sent to 190 families. Among 36 analyzable questionnaires, growth and nutritional indices compatible with PEM occurred in 47% of patients: 19% before 6 months of age, 24% between 6-12 months and 34% after 12 months...
May 2016: American Journal of Medical Genetics. Part A
https://www.readbyqxmd.com/read/26833920/identification-of-copy-number-variations-associated-with-congenital-heart-disease-by-chromosomal-microarray-analysis-and-next-generation-sequencing
#8
Xiangyu Zhu, Jie Li, Tong Ru, Yaping Wang, Yan Xu, Ying Yang, Xing Wu, David S Cram, Yali Hu
OBJECTIVE: To determine the type and frequency of pathogenic chromosomal abnormalities in fetuses diagnosed with congenital heart disease (CHD) using chromosomal microarray analysis (CMA) and validate next-generation sequencing as an alternative diagnostic method. METHOD: Chromosomal aneuploidies and submicroscopic copy number variations (CNVs) were identified in amniocytes DNA samples from CHD fetuses using high-resolution CMA and copy number variation sequencing (CNV-Seq)...
April 2016: Prenatal Diagnosis
https://www.readbyqxmd.com/read/26708886/-establishment-of-primary-adult-mds-nested-case-control-study-cohort-and-study-of-risk-factors-associated-with-mds-evolution-to-leukemia
#9
Yan Ma, Bo-Bin Chen, Xiao-Qin Wang, Xiao-Ping Xu, Guo-Wei Lin
OBJECTIVE: To establish a nested case-control study cohort in myelodysplastic syndrome (MDS) patients and investigate the clinical characteristics, WHO subtype and risk factors associated with MDS evolution to leukemia of this cohort. METHODS: All patients, ≥18 years of age, provided by 24 Shanghai hospitals with initial clinical findings consistent with a hematopoietic abnormality between June 2003 and April 2007, were the candidates for inclusion in this study...
December 2015: Zhongguo Shi Yan Xue Ye Xue za Zhi
https://www.readbyqxmd.com/read/26601658/multigenerational-autosomal-dominant-inheritance-of-5p-chromosomal-deletions
#10
Bin Zhang, Marcia Willing, Dorothy K Grange, Marwan Shinawi, Linda Manwaring, Marisa Vineyard, Shashikant Kulkarni, Catherine E Cottrell
Deletion of the short arm of chromosome 5 (5p-) is associated with phenotypic features including a cat-like cry in infancy, dysmorphic facial features, microcephaly, and intellectual disability, and when encompassing a minimal critical region, may be defined as Cri-du-Chat syndrome (CdCS). Most 5p deletions are de novo in origin, and familial cases are often associated with translocation and inversion. Herein, we report three multigenerational families carrying 5p terminal deletions of different size transmitted in an autosomal dominant manner causing variable clinical findings...
March 2016: American Journal of Medical Genetics. Part A
https://www.readbyqxmd.com/read/26576006/electroclinical-and-cytogenetic-features-of-epilepsy-in-cri-du-chat-syndrome
#11
Yukako Nakagami, Kiyohito Terada, Hitoshi Ikeda, Toshio Hiyoshi, Yushi Inoue
Cri-du-chat syndrome (CdCs) is caused by deletion in the short arm of chromosome 5, occurring in 1:15,000 to 1:50,000 live births. Recent genotype-phenotype correlation studies show the importance of 5p15.2 for facial dysmorphism and intellectual disability, and 5p15.3 for cat-like cry. Numerous reports have shown the relative rarity of epilepsy in this syndrome. We identified two cases with epilepsy in CdCs, and described their electroclinical and cytogenetic features. The first case was a 25-year-old female who had axial tonic seizures with flexion of the neck and shoulders...
December 2015: Epileptic Disorders: International Epilepsy Journal with Videotape
https://www.readbyqxmd.com/read/26457586/a-systematic-review-of-the-oral-and-craniofacial-manifestations-of-cri-du-chat-syndrome
#12
REVIEW
José-Ramón Corcuera-Flores, Lizett Casttellanos-Cosano, Daniel Torres-Lagares, María Ángeles Serrera-Figallo, Ángela Rodríguez-Caballero, Guillermo Machuca-Portillo
Cri du chat syndrome is an autosomal disorder. Because it affects few people in the population it is considered a rare disease, yet it is one of the most common autosomal chromosomal syndromes in humans. It entails pathognomonic alterations that affect the craniofacial and oral anatomy of patients. The aim of this study is to review these craniofacial and oral abnormalities in patients with Cri du chat syndrome. The PubMed Medline database was searched using two different strategies. First, we used "Dentistry" and "Cri du chat" as keywords; second, we used "Cri du chat" and "craniofacial...
July 2016: Clinical Anatomy
https://www.readbyqxmd.com/read/26279624/design-construction-and-validation-of-targeted-bac-array-based-cgh-test-for-detecting-the-most-commons-chromosomal-abnormalities
#13
Stefano Gambardella, Erika Ciabattoni, Francesca Motta, Giusy Stoico, Francesca Gullotta, Michela Biancolella, Anna Maria Nardone, Antonio Novelli, Ercole Brunetti, Laura Bernardini, Giuseppe Novelli
We designed a targeted-array called GOLD (Gain or Loss Detection) Chip consisting of 900 FISH-mapped non-overlapping BAC clones spanning the whole genome to enhance the coverage of 66 unique human genomic regions involved in well known microdeletion/microduplication syndromes. The array has a 10 Mb backbone to guarantee the detection of the aneuploidies, and has an implemented resolution for telomeres, and for regions involved in common genomic diseases. In order to evaluate clinical diagnostic applicability of GOLDChip, analytical validity was carried-out via retrospective analysis of DNA isolated from a series of cytogenetically normal amniocytes and cytogenetically abnormal DNA obtained from cultured amniocytes, peripheral blood and/or cell lines...
2010: Genomics Insights
https://www.readbyqxmd.com/read/26258091/screening-of-fetal-chromosome-aneuploidies-in-the-first-and-second-trimester-of-125-170-iranian-pregnant-women
#14
Elham Seyyed Kavoosi, Sarang Younessi, Dariush D Farhud
BACKGROUND: Aneuploidy is one of the main causes of congenital anomalies, mental and physical disabilities, in newborns. The aim of this study was to determine various chromosomal aneuploidies in the first and second trimester screening of pregnant women, in Iran. METHODS: A descriptive retrospective study was conducted on 125,170 pregnant women referred to a major referral medical diagnostic laboratory (Niloo Laboratory, Tehran) for prenatal screening tests (2010-2013)...
June 2015: Iranian Journal of Public Health
https://www.readbyqxmd.com/read/26059676/peters-anomaly-in-cri-du-chat-syndrome
#15
William C Hope, Jose A Cordovez, Jenina E Capasso, Kristin M Hammersmith, Ralph C Eagle, Joel Lall-Trail, Alex V Levin
The cri-du-chat syndrome is a rare genetic disorder caused by deletions in the short arm of chromosome 5. It presents with a distinctive catlike high-pitched cry, psychomotor delays, microcephaly, craniofacial abnormalities, and, in many cases, ocular findings. We report the first child with cri-du-chat and the findings of unilateral corneal staphyloma due to Peters anomaly and retinal dysplasia.
June 2015: Journal of AAPOS: the Official Publication of the American Association for Pediatric Ophthalmology and Strabismus
https://www.readbyqxmd.com/read/25989416/contrasting-age-related-changes-in-autism-spectrum-disorder-phenomenology-in-cornelia-de-lange-fragile-x-and-cri-du-chat-syndromes-results-from-a-2-5-year-follow-up
#16
Lisa Cochran, Joanna Moss, Lisa Nelson, Chris Oliver
Little is known about the way in which the characteristics of autism spectrum disorder (ASD) develop and manifest across the age span in individuals with genetic syndromes. In this study we present findings from a two and a half year follow-up of the characteristics associated with ASD in three syndromes: Cornelia de Lange (CdLS), Fragile X (FXS), and Cri du Chat (CdCS). Parents and carers of 251 individuals (CdLS=67, CdCS=42, and FXS=142) completed the Social Communication Questionnaire (SCQ) at Time 1 (T1) and again two and a half years later (T2)...
June 2015: American Journal of Medical Genetics. Part C, Seminars in Medical Genetics
https://www.readbyqxmd.com/read/25905618/the-association-between-cri-du-chat-syndrome-and-dental-anomalies
#17
Charmaine Hall, Kerrod Hallett, David Manton
Cri du chat syndrome (CdcS), also known as 5p deletion syndrome is a genetic disorder caused by the partial deletion of chromatin from the short arm of chromosome 5. There is a paucity of literature on the dental manifestations in CdcS. The purposes of this report are to present the case of a nine-year-old girl with the syndrome, CdcS and to review its dental and clinical manifestations and their management in children.
2014: Journal of Dentistry for Children
https://www.readbyqxmd.com/read/25756154/co-segregation-of-freiberg-s-infraction-with-a-familial-translocation-t-5-7-p13-3-p22-2-ascertained-by-a-child-with-cri-du-chat-syndrome-and-brachydactyly-type-a1b
#18
Marta Myśliwiec, Barbara Panasiuk, Maria Dębiec-Rychter, Piotr Sebastian Iwanowski, Urszula Łebkowska, Beata Nowakowska, Anna Marcinkowska, Pawel Stankiewicz, Alina T Midro
The identification of chromosomal breakpoints in association with human abnormal phenotypes can enable elucidation of gene function. We report on epiphyseal aseptic necrosis of the lesser head of the second metatarsal bone, known as Freiberg's infraction (FI), in two female carriers of the apparently balanced t(5;7)(p13.3;p22.2) ascertained by a 16-year-old girl with cri-du-chat syndrome and unusual skeletal features in association with an unbalanced translocation der(5) t(5;7)(p13.3;p22.2). Mapping of the chromosome breakpoints using fluorescent in situ hybridization (FISH) narrowed them to the coding sequence of ADAMTS12 on chromosome 5p13...
February 2015: American Journal of Medical Genetics. Part A
https://www.readbyqxmd.com/read/25724647/%C3%AE-catenin-regulates-spine-architecture-via-cadherin-and-pdz-dependent-interactions
#19
Li Yuan, Eunju Seong, James L Beuscher, Jyothi Arikkath
The ability of neurons to maintain spine architecture and modulate it in response to synaptic activity is a crucial component of the cellular machinery that underlies information storage in pyramidal neurons of the hippocampus. Here we show a critical role for δ-catenin, a component of the cadherin-catenin cell adhesion complex, in regulating spine head width and length in pyramidal neurons of the hippocampus. The loss of Ctnnd2, the gene encoding δ-catenin, has been associated with the intellectual disability observed in the cri du chat syndrome, suggesting that the functional roles of δ-catenin are vital for neuronal integrity and higher order functions...
April 24, 2015: Journal of Biological Chemistry
https://www.readbyqxmd.com/read/25710461/detection-of-fetal-subchromosomal-abnormalities-by-sequencing-circulating-cell-free-dna-from-maternal-plasma
#20
Chen Zhao, John Tynan, Mathias Ehrich, Gregory Hannum, Ron McCullough, Juan-Sebastian Saldivar, Paul Oeth, Dirk van den Boom, Cosmin Deciu
BACKGROUND: The development of sequencing-based noninvasive prenatal testing (NIPT) has been largely focused on whole-chromosome aneuploidies (chromosomes 13, 18, 21, X, and Y). Collectively, they account for only 30% of all live births with a chromosome abnormality. Various structural chromosome changes, such as microdeletion/microduplication (MD) syndromes are more common but more challenging to detect. Recently, several publications have shown results on noninvasive detection of MDs by deep sequencing...
April 2015: Clinical Chemistry
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