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https://www.readbyqxmd.com/read/28915135/otolaryngologic-management-of-down-syndrome-patients-what-is-new
#1
Ethan C Bassett, Mary F Musso
PURPOSE OF REVIEW: The management of children with Down syndrome as it pertains to the otolaryngologist continues to evolve. Obstructive sleep apnea (OSA) has dominated the recent literature, but other topics including hearing loss, swallowing, and perioperative considerations are also reported. RECENT FINDINGS: The prevalence of OSA in children with Down syndrome ranges from 57 to 73% in certain cohorts, and, whereas adentonsillectomy can decrease Apnea-Hypopnea Index, up to 80% may have persistent OSA...
September 14, 2017: Current Opinion in Otolaryngology & Head and Neck Surgery
https://www.readbyqxmd.com/read/28912835/a-unique-set-of-complex-chromosomal-abnormalities-in-an-infant-with-myeloid-leukemia-associated-with-down-syndrome
#2
Daiane Correa de Souza, Amanda Faria de Figueiredo, Daniela R Ney Garcia, Elaine Sobral da Costa, Moneeb A K Othman, Thomas Liehr, Eliana Abdelhay, Maria Luiza Macedo Silva, Teresa de Souza Fernandez
BACKGROUND: Children with Down syndrome (DS) have an enhanced risk of developing acute leukemia, with the most common subtype being acute megakaryoblastic leukemia (AMKL). Myeloid leukemia in Down syndrome (ML-DS) is considered a disease with distinct clinical and biological features. There are few studies focusing on the clonal cytogenetic changes during evolution of ML-DS. CASE PRESENTATION: Here, we describe a complex karyotype involving a previously unreported set of chromosomal abnormalities acquired during progression of ML-DS in an infant boy: derivative der(1)t(1;15)(q24;q23), translocation t(4;5)(q26;q33) and derivative der(15)t(7;15)(p21;q23)...
2017: Molecular Cytogenetics
https://www.readbyqxmd.com/read/28905502/prevalence-trends-of-selected-major-birth-defects-a-multi-state-population-based-retrospective-study-united-states-1999-to-2007
#3
Amanda M St Louis, Keewan Kim, Marilyn L Browne, Gang Liu, Rebecca F Liberman, Wendy N Nembhard, Mark A Canfield, Glenn Copeland, Jane Fornoff, Russell S Kirby
BACKGROUND: We evaluated selected birth defects over a 9-year period to assess prevalence trends by selected maternal and infant factors. METHODS: Data were pooled from 11 population-based birth defects surveillance programs in the United States for children born between 1999 and 2007. Overall prevalence, as well as 3-year interval prevalence, was calculated for 26 specific birth defects, stratified by maternal age, maternal race/ethnicity, and infant sex. Average annual percent change (AAPC) was calculated for each birth defect...
September 14, 2017: Birth defects research
https://www.readbyqxmd.com/read/28900314/evaluation-of-metabolic-syndrome-and-related-factors-in-children-affected-by-acute-lymphoblastic-leukemia
#4
Soheila Zareifar, Sezaneh Haghpanah, Eslam Shorafa, Nader Shakibazad, Zohreh Karamizadeh
INTRODUCTION: Obesity is among the medical problems in survivors of childhood acute lymphoblastic leukemia (ALL). These patients are at risk of metabolic syndrome (MS). The present study aimed to follow the patients with ALL regarding the incidence of MS. PATIENTS AND METHODS: This study was conducted on all patients who referred to the oncology clinic from July 2012 to July 2013. The exclusion criteria of the study were ALL relapse, secondary malignancy, hypothyroidism, Down syndrome, and below 2 years of age...
April 2017: Indian Journal of Medical and Paediatric Oncology
https://www.readbyqxmd.com/read/28895939/sleep-disorders-in-childhood-neurogenetic-disorders
#5
REVIEW
Laura Beth Mann Dosier, Bradley V Vaughn, Zheng Fan
enetic advances in the past three decades have transformed our understanding and treatment of many human diseases including neurogenetic disorders. Most neurogenetic disorders can be classified as "rare disease," but collectively neurogenetic disorders are not rare and are commonly encountered in general pediatric practice. The authors decided to select eight relatively well-known neurogenetic disorders including Down syndrome, Angelman syndrome, Prader-Willi syndrome, Smith-Magenis syndrome, congenital central hypoventilation syndrome, achondroplasia, mucopolysaccharidoses, and Duchenne muscular dystrophy...
September 12, 2017: Children
https://www.readbyqxmd.com/read/28895457/polysomnography-in-pediatric-otolaryngology-if-not-obstructive-sleep-apnea-what-is-it
#6
Christine H Heubi, Jareen Meinzen-Derr, Sally R Shott, David F Smith, And Stacey L Ishman
Objective To determine common polysomnographic (PSG) diagnoses for children referred by otolaryngologists. Study Design Retrospective case series with chart review. Setting Single tertiary pediatric hospital (2010-2015). Subjects and Methods Review of the medical records of 1258 patients undergoing PSG by otolaryngology referral. Patients who underwent previous otolaryngologic surgery were excluded. Data distributions were evaluated using means with standard deviations for continuous variables and frequencies with percentages for categorical variables...
September 1, 2017: Otolaryngology—Head and Neck Surgery
https://www.readbyqxmd.com/read/28895096/palivizumab-prophylaxis-against-respiratory-syncytial-virus-infection-in-children-with-immunocompromised-conditions-or-down-syndrome-a-multicenter-post-marketing-surveillance-in-japan
#7
Tomoko Kashiwagi, Yukiko Okada, Ken Nomoto
OBJECTIVE: The aim of this study was to assess the safety and effectiveness of palivizumab for the prevention of lower respiratory tract infection (LRI) caused by respiratory syncytial virus (RSV) in children with immunocompromised conditions or Down syndrome. METHODS: In this multicenter, post-marketing surveillance study (December 2013 to December 2015), children aged ≤24 months with immunocompromised conditions or Down syndrome (without hemodynamically significant congenital heart disease) receiving palivizumab immunoprophylaxis during two RSV seasons were observed until 30 days after the final palivizumab injection...
September 11, 2017: Paediatric Drugs
https://www.readbyqxmd.com/read/28892549/pediatric-obstructive-sleep-apnea-in-high-risk-populations-clinical-implications
#8
Mai El Mallah, Evan Bailey, Michelle Trivedi, Ted Kremer, Lawrence M Rhein
Certain common medical conditions are associated with a higher risk of pediatric obstructive sleep apnea (OSA). A lower threshold for screening is therefore indicated for such patient cohorts. In this article, we briefly discuss the high prevalence of OSA in children born prematurely, and in those with Down syndrome, craniofacial disorders, and neuromuscular disorders. Primary care providers should have an increased index of suspicion for OSA in these children, considering the neurocognitive disability that occurs in these high-risk groups when OSA is left untreated...
September 1, 2017: Pediatric Annals
https://www.readbyqxmd.com/read/28889146/celiac-disease-in-saudi-children-evaluation-of-clinical-features-and-diagnosis
#9
Anjum Saeed, Asaad Assiri, Hebah Assiri, Anhar Ullah, Mohsin Rashid
 Objectives: To characterize the clinical presentations and diagnosis including serological tests and histopathological findings in children with celiac disease. Methods: All children (less than 18 years) with confirmed celiac disease diagnosed over a 6 year period at a private tertiary care health care center in Riyadh,  Saudi Arabia were studied retrospectively. Information collected included demographics, clinical presentation and diagnostic modalities with serology and small intestinal histology reported by Marsh grading...
September 2017: Saudi Medical Journal
https://www.readbyqxmd.com/read/28882786/exosomal-biomarkers-in-down-syndrome-and-alzheimer-s-disease
#10
REVIEW
Eric D Hamlett, Aurélie Ledreux, Huntington Potter, Heidi J Chial, David Patterson, Joaquin M Espinosa, Brianne M Bettcher, Ann-Charlotte Granholm
Every person with Down syndrome (DS) has the characteristic features of Alzheimer's disease (AD) neuropathology in their brain by the age of forty, and most go on to develop AD dementia. Since people with DS show highly variable levels of baseline function, it is often difficult to identify early signs of dementia in this population. The discovery of blood biomarkers predictive of dementia onset and/or progression in DS is critical for developing effective clinical diagnostics. Our recent studies show that neuron-derived exosomes, which are small extracellular vesicles secreted by most cells in the body, contain elevated levels of amyloid-beta peptides and phosphorylated-Tau that could indicate a preclinical AD phase in people with DS starting in childhood...
September 4, 2017: Free Radical Biology & Medicine
https://www.readbyqxmd.com/read/28878466/a-comparison-of-the-function-activity-and-participation-and-quality-of-life-between-down-syndrome-children-and-typically-developing-children
#11
Hee-Kyoung Jung, EunJung Chung, Byoung-Hee Lee
[Purpose] To compare function, activity, participation, and quality of life of Down syndrome children and typically developing children according to age. [Subjects and Methods] A total of 16 Down syndrome children and 20 children with typical development were included as subjects for this study. International Classification of Functioning, Disability, and Health (ICF) Child and Youth version (CY) developed by the World Health Organization (WHO) and a questionnaire were used to measure children's functioning, activity, and participation...
August 2017: Journal of Physical Therapy Science
https://www.readbyqxmd.com/read/28871932/a-12-year-old-girl-with-severe-plaque-psoriasis-and-down-syndrome-treated-successfully-with-etanercept
#12
Michał Adamczyk, Małgorzata Michalska-Jakubus, Dorota Krasowska
The association between Down syndrome and psoriasis is unclear. Immunological abnormalities that present in individuals with Down syndrome result in mild immune debilitation, thus the risk of infectious complications during immunosuppressive therapy might be higher in this group of patients. We present a case of 12-year-old girl with severe plaque psoriasis and Down syndrome, who was initially treated with cyclosporine with good response. However, the drug was withdrawn due to massive viral warts development and loss of efficacy...
July 2017: Acta Dermatovenerologica Croatica: ADC
https://www.readbyqxmd.com/read/28871845/accuracy-of-parental-perception-of-nighttime-breathing-in-children-with-down-syndrome
#13
Norman R Friedman, Amanda G Ruiz, Dexiang Gao, David G Ingram
Objective In 2011, the American Academy of Pediatrics published a guideline for children with Down syndrome (DS), recommending a polysomnogram (PSG) by age 4 years regardless of symptoms. Their rationale was based on 2 publications with small cohorts, where at least 50% of the children had no obstructive sleep apnea (OSA) symptoms but their PSG results were abnormal. The American Academy of Otolaryngology-Head and Neck Surgery Foundation published a clinical practice guideline recommending PSG prior to adenotonsillectomy for these children...
September 1, 2017: Otolaryngology—Head and Neck Surgery
https://www.readbyqxmd.com/read/28869807/prolonged-toilet-training-in-children-with-down-syndrome-a-case-control-study
#14
Flávia Cristina de Carvalho Mrad, André Avarese de Figueiredo, José de Bessa, José Murillo Bastos Netto
OBJECTIVES: Children with Down syndrome have delayed psychomotor development, which is a factor that influences the level of difficulty in toilet training. The current study aims to estimate the age toilet training starts and completes in children with DS compared to children with normal psychomotor development and to evaluate the method and type of toilet training most frequently used, as well as its association with lower urinary tract symptoms and functional constipation. METHODS: A case-control study was carried out from 2010 to 2015...
September 1, 2017: Jornal de Pediatria
https://www.readbyqxmd.com/read/28857390/challenges-in-measuring-the-effects-of-pharmacological-interventions-on-cognitive-and-adaptive-functioning-in-individuals-with-down-syndrome-a-systematic-review
#15
REVIEW
Lori A Keeling, Gail A Spiridigliozzi, Sarah J Hart, Jane A Baker, Harrison N Jones, Priya S Kishnani
We systematically reviewed the measures used in pharmaceutical trials in children/adults with Down syndrome without dementia. Our purpose was to identify developmentally appropriate outcome measures capable of detecting changes in cognitive and adaptive functioning in this population. Eleven studies were included and used diverse outcome measures across the domains of language, memory, attention, behavior, and executive/adaptive functioning. Our results highlight the challenges in selecting measures capable of capturing improvements in pharmaceutical trials in individuals with DS...
August 31, 2017: American Journal of Medical Genetics. Part A
https://www.readbyqxmd.com/read/28855995/combined-detection-of-%C3%AE-fetoprotein-and-free-%C3%AE-human-chorionic-gonadotropin-in-screening-for-trisomy-21-and-management-of-cases-in-the-moderate-risk-value-range
#16
Yahong Li, Xiaojuan Zhang, Yun Sun, Dongyang Hong, Yanyun Wang, Zhengfeng Xu, Tao Jiang
Down syndrome is the most common cause of prenatal chromosomal abnormalities, and prenatal serum screening is an effective method for decreasing the birth prevalence of children with Down syndrome. The aim of the present study was to observe the effect of duplex screening and investigate the treatment of cases under specific conditions. The medians of free β-human chorionic gonadotropin (HCG) and α-fetoprotein (AFP) were calculated and compared with those embedded in the 2T software. The detection and false-positive rates were analyzed under different conditions, and the distribution of Down syndrome cases was investigated in different risk ranges...
October 2017: Molecular and Clinical Oncology
https://www.readbyqxmd.com/read/28854301/understanding-hearing-and-hearing-loss-in-children-with-down-syndrome
#17
Emily Nightengale, Patricia Yoon, Kristy Wolter-Warmerdam, Dee Daniels, Fran Hickey
Purpose: This study evaluated the prevalence of permanent and transient hearing loss, the use of hearing aids as a recommendation, and middle ear dysfunction in children with Down syndrome (DS) through a large multiage and ethnically diverse sample, using current audiologic testing practices. Method: Retrospective analysis of data collected on 308 children with DS (168 boys, 140 girls; average age = 5.99 ± 4.88 years) who received an audiological evaluation during 2013 as part of their medical care at a large pediatric hospital...
September 18, 2017: American Journal of Audiology
https://www.readbyqxmd.com/read/28842136/philadelphia-chromosome-like-acute-lymphoblastic-leukemia
#18
REVIEW
Ching-Hon Pui, Kathryn G Roberts, Jun J Yang, Charles G Mullighan
Philadelphia chromosome-like acute lymphoblastic leukemia (Ph-like ALL) is a recently described B-cell precursor ALL with a gene expression profile and a high frequency of IKZF1 gene alteration similar to that of Ph-positive ALL. Its prevalence is approximately 12% in children, 21% in adolescents (16-20 years of age), and 20% to 24% in adults older than 40 years, with a peak (27%) in young adults 21 to 39 years old. It occurs more often in male individuals and patients with Down syndrome. Ph-like ALL is overrepresented in those with Hispanic ethnicity and is associated with inherited genetic variants in GATA3 (rs3824662)...
August 2017: Clinical Lymphoma, Myeloma & Leukemia
https://www.readbyqxmd.com/read/28838601/fetal-alcohol-spectrum-disorders-what-pediatric-providers-need-to-know
#19
Angela Nash, Leah Davies
Prenatal alcohol exposure is the cause of fetal alcohol spectrum disorders (FASDs), the prevalence of which is similar to that of other developmental disabilities like Down syndrome and autism. Children, adolescents, and adults who live with the disabilities associated with prenatal alcohol exposure face extraordinary challenges throughout their lives. Pediatric providers need to be able to identify patients with FASD because early recognition and intervention is known to improve life outcomes for affected individuals...
September 2017: Journal of Pediatric Health Care
https://www.readbyqxmd.com/read/28834835/esophageal-stricture-in-a-child-with-habit-of-acidic-drinks
#20
Omer Erdur, Tamer Sekmenli, Ilhan Ciftci, Kayhan Ozturk
A 12-year-old boy with Down syndrome referred to the authors' department with dysphagia and growth retardation. Dysphagia was especially with solid foods and had a 12-month history. When he was 7, he had started to drink Coke and from that time he had a Coke drinking habit. Every day he was drinking more than 2 L Coke and was eating meals in small amounts. Investigations of the patient revealed esophageal stricture related to acidic drink habit and gastro-oesephageal reflux. The patient was treated with recurrent bouginage, antireflux medication, and nutrional support...
August 22, 2017: Journal of Craniofacial Surgery
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