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Down syndrome

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https://www.readbyqxmd.com/read/27931586/observational-study-of-methotrexate-in-the-treatment-of-bronchiolitis-obliterans-syndrome
#1
S Sithamparanathan, L Thirugnanasothy, K E Morley, A J Fisher, J L Lordan, G Meachery, G Parry, P A Corris
BACKGROUND: Methotrexate (MTX) is potential change in immunosuppression after lung transplantation that may help to slow down the decline in lung function in bronchiolitis obliterans syndrome (BOS). METHODS: We sought to analyze the safety and efficacy of MTX in patients with BOS, by retrospective case review. RESULTS: Thirty lung allograft patients were treated with MTX for BOS after one bilateral lower lobe, nine single, 16 bilateral, and four heart-lung transplants...
December 2016: Transplantation Proceedings
https://www.readbyqxmd.com/read/27931082/pharmacotherapeutic-considerations-for-individuals-with-down-syndrome
#2
Erik J Hefti, Javier G Blanco
Down syndrome (DS, trisomy 21) is the most common survivable disorder due to aneuploidy. Individuals with DS may experience multiple comorbid health problems including congenital heart defects, endocrine abnormalities, skin and dental problems, seizure disorders, leukemia, dementia, and obesity. These associated conditions may necessitate pharmacotherapeutic management with various drugs. The complex pathobiology of DS may alter drug disposition and drug response in some individuals. For example, reports have documented increased rates of adverse drug reactions in patients with DS treated for leukemia and dementia...
December 8, 2016: Pharmacotherapy
https://www.readbyqxmd.com/read/27930746/perinatal-natural-history-of-the-ts1cje-mouse-model-of-down-syndrome-growth-restriction-early-mortality-heart-defects-and-delayed-development
#3
Millie A Ferrés, Diana W Bianchi, Ashley E Siegel, Roderick T Bronson, Gordon S Huggins, Faycal Guedj
BACKGROUND: The Ts1Cje model of Down syndrome is of particular interest for perinatal studies because affected males are fertile. This permits affected pups to be carried in wild-type females, which is similar to human pregnancies. Here we describe the early natural history and growth profiles of Ts1Cje embryos and neonates and determine if heart defects are present in this strain. METHODS: Pups were studied either on embryonic (E) day 15.5, or from postnatal (P) day 3 through weaning on P21...
2016: PloS One
https://www.readbyqxmd.com/read/27930565/a-case-report-with-the-peculiar-concomitance-of-2-different-genetic-syndromes
#4
Alberto Lerario, Irene Colombo, Donatella Milani, Lorenzo Peverelli, Luisa Villa, Roberto Del Bo, Monica Sciacco, Giacomo Pietro Comi, Susanna Esposito, Maurizio Moggio
RATIONALE: Down syndrome (DS) is the most common chromosome disorder in live born infants, affecting several body systems, but usually sparing skeletal muscles. We present the case of a child with coexistence of DS and dystrophinopathy. Only 1 similar case has been reported so far. PATIENT CONCERNS: An 8-year-old boy with DS had a history of incidental finding of increased serum creatine kinase levels up to 1775 U/L (normal values 38-174 U/L). He presented no delay in motor development; at the neurological examination, no muscle weakness or fatigability was detected in 2 different evaluations performed over a 6-month period...
December 2016: Medicine (Baltimore)
https://www.readbyqxmd.com/read/27928873/lycopene-inhibits-regulator-of-calcineurin-1-mediated-apoptosis-by-reducing-oxidative-stress-and-down-regulating-nucling-in-neuronal-cells
#5
Seiyoung Lim, Sinwoo Hwang, Ji Hoon Yu, Joo Weon Lim, Hyeyoung Kim
SCOPE: Regulator of calcineurin 1 (RCAN1) is located on the Down syndrome critical region (DSCR) locus in human chromosome 21. Oxidative stress and overexpression of RCAN1 is implicated in neuronal impairment in Down's syndrome (DS) and Alzheimer's disease (AD). Serum level of lycopene, an antioxidant pigment, is low in DS and AD patients, which may be related to neuronal damage. The present study is to investigate whether lycopene inhibits apoptosis by reducing ROS levels, NF-κB activation, expression of the apoptosis regulator Nucling, cell viability, and indices of apoptosis (cytochrome c release, caspase-3 activation) in RCAN1-overexpressing neuronal cells...
December 8, 2016: Molecular Nutrition & Food Research
https://www.readbyqxmd.com/read/27927128/value-of-difference
#6
Rosamund Saunt
As a parent of a daughter with Down's syndrome, I was drawn to an article in the A-Z of syndromes series in Nursing Children and Young People (28, 9, 17).
December 8, 2016: Nursing Children and Young People
https://www.readbyqxmd.com/read/27925162/facial-dysmorphism-is-influenced-by-ethnic-background-of-the-patient-and-of-the-evaluator
#7
Aimé Lumaka, Nele Cosemans, Aimée Lulebo Mampasi, Gerrye Mubungu, Nono Mvuama, Toni Lubala, Sebastien Mbuyi-Musanzayi, Jeroen Breckpot, Maureen Holvoet, Thomy De Ravel, Griet Van Buggenhout, Hilde Peeters, Dian Donnai, Leon Mutesa, Alain Verloes, Prosper Lukusa Tshilobo, Koenraad Devriendt
The evaluation of facial dysmorphism is a critical step toward reaching a diagnostic. The aim of the present study was to evaluate the ability to interpret facial morphology in African children with intellectual disability (ID). First, 10 experienced clinicians (5 from Africa and 5 from Europe) rated gestalt in 127 African non-Down Syndrome (non-DS) patients using either the score 2 for "clearly dysmorphic", 0 for "clearly non dysmorphic" or 1 for "uncertain". The inter-rater agreement was determined using kappa coefficient...
December 7, 2016: Clinical Genetics
https://www.readbyqxmd.com/read/27924668/parenting-of-children-with-down-syndrome-compared-to-fragile-x-syndrome
#8
Audra Sterling, Steven F Warren
Children with Down syndrome (DS) and fragile X syndrome (FXS) struggle with language development. Parenting variables, such as responsiveness to children's communication attempts (Maternal Responsivity), and techniques used to support and teach appropriate behavior (Behavior Management) are known to have a significant impact on early child development. We examined these two aspects of parenting style via coded, videotaped parent-child interactions in two groups of participants matched on child age (2-5 years) and child expressive language level: mothers of children with DS and mothers of children with FXS...
December 7, 2016: Developmental Neurorehabilitation
https://www.readbyqxmd.com/read/27924390/technical-standardization-of-laparoscopic-repair-of-morgagni-diaphragmatic-hernia-in-children-results-of-a-multicentric-survey-on-43-patients
#9
Ciro Esposito, Maria Escolino, Francois Varlet, Amulya Saxena, Sabine Irtan, Paul Philippe, Alessandro Settimi, Mariapina Cerulo, Holger Till, Francois Becmeur, George W Holcomb
BACKGROUND: This study aimed to standardize the surgical correction technique of congenital Morgagni diaphragmatic hernia (CMDH), analyzing the results of an international multicentric survey. METHODS: The medical records of 43 patients (29 boys, 14 girls) who underwent laparoscopic repair of CMDH in 8 pediatric surgery units in a 5-year period were retrospectively reviewed. Their average age was 3.3 years. Ten patients (23.2%) presented associated malformations: 9 Down syndrome (20...
December 6, 2016: Surgical Endoscopy
https://www.readbyqxmd.com/read/27923689/eupafolin-nanoparticle-improves-acute-renal-injury-induced-by-lps-through-inhibiting-ros-and-inflammation
#10
Hao Zhang, Ming-Kun Chen, Ke Li, Cheng Hu, Min-Hua Lu, Jie Situ
Acute renal injury is a common severe clinical syndrome, occurring in many clinical situations. It is necessary to explore effective drugs to treat it. Eupafolin is a flavonoid compound, derived from Phyla nodiflora, which has been previously reported to possess a variety of pharmacological activities, including anti-inflammatory and antioxidant effects. However, it is known little about how it works in acute renal injury. Also, eupafolin is characterized by skin penetration and poor water solubility, limiting its clinical applications...
December 3, 2016: Biomedicine & Pharmacotherapy, Biomédecine & Pharmacothérapie
https://www.readbyqxmd.com/read/27922891/coexistence-of-adult-onset-eruptive-syringoma-and-bilateral-renal-cell-carcinoma-a-case-report
#11
Pinar Incel Uysal, Basak Yalcin, Esra Ozhamam, Onder Bozdogan
Eruptive syringoma is an unusual variant of syringoma, which usually presents before or during puberty. It typically occurs in large numbers as multiple yellow-brown-colored papules, which may show spontaneous regression. Because some authors have proposed that it could present as a reactive process of eccrine ducts to an inflammatory reaction caused by an unknown trigger, the exact pathomechanism is still unclear. There are also reports in the literature on the association of eruptive syringoma in Down syndrome, diabetes, milium, sarcoidosis, and psychiatric disorders...
December 2, 2016: American Journal of Dermatopathology
https://www.readbyqxmd.com/read/27922732/dental-caries-and-associated-factors-in-twins-with-down-syndrome-a-case-report
#12
Maurício José Santos Moreira, Carolina Schwertner, Ana Paula Dall'Onder, Natália Mincato Klaus, Clarissa Cavalcanti Fatturi Parolo, Lina Naomi Hashizume
Down syndrome (DS) is the most common genetic disorder in humans, but its incidence in monozygotic twins is extremely rare. The aim of this study was to determine the factors associated with dental caries in a pair of monozygotic twin girls with DS, where one had caries experience and the other did not. Clinical examination, salivary Streptococcus mutans (S. mutans) levels and their genotypic diversity, the biochemical composition of the dental biofilm, the frequency of sucrose consumption, and toothbrushing habits were assessed from the twin girls...
December 6, 2016: Special Care in Dentistry
https://www.readbyqxmd.com/read/27922696/down-syndrome-critical-region-1-positively-correlates-with-angiogenesis-in-hypopharyngeal-cancer
#13
Chao Lv, Dayu Liu, Xiaona Wei
Hypopharyngeal carcinoma has one of the highest mortality rates of head and neck cancer, therefore, the identification of markers associated with the pathogenesis and development of hypopharyngeal cancer is critical. Down syndrome critical region 1 (DSCR1) is associated with carcinogenesis and tumor growth in several types of malignancy. Activation of the vascular endothelial growth factor (VEGF) signaling pathway upregulates DSCR1. The aims of the present study were to determine the expression levels of DSCR1 and VEGF‑C in hypopharyngeal cancer, and investigate the association between DSCR1 and angiogenesis in the disease...
December 6, 2016: Molecular Medicine Reports
https://www.readbyqxmd.com/read/27920745/mother-child-play-a-comparison-of-autism-spectrum-disorder-down-syndrome-and-typical-development
#14
Arianna Bentenuto, Simona De Falco, Paola Venuti
The purpose of the present study was to analyze mother-child collaborative play in children with Autism Spectrum Disorders (ASD) compared to children with Down Syndrome (DS) and typical developing children (TD). Children with ASD are often described as having deficient play skills, particularly in the symbolic domain. Caregivers' involvement in child play activities increases the structural complexity of playing in both typically developing children and children with disabilities. Participants included 75 mothers and their children with ASD (n = 25), with down syndrome (n = 25) and with typical development (n = 25)...
2016: Frontiers in Psychology
https://www.readbyqxmd.com/read/27919648/antiviral-action-of-the-antimicrobial-peptide-alfpm3-from-penaeus-monodon-against-white-spot-syndrome-virus
#15
Thanachai Methatham, Pakpoom Boonchuen, Phattarunda Jaree, Anchalee Tassanakajon, Kunlaya Somboonwiwat
The anti-lipopolysaccharide factor isoform 3 (ALFPm3), the antimicrobial peptide from Penaeus monodon, possesses antibacterial and antiviral activities. Although the mechanism of action of ALFPm3 against bacteria has been revealed but its antiviral mechanism is still unclear. To further study how the ALFPm3 exhibits antiviral activity against the enveloped virus, white spot syndrome virus (WSSV), the ALFPm3-interacting proteins from WSSV were sought and identified five ALFPm3-interacting proteins, WSSV186, WSSV189, WSSV395, WSSV458, and WSSV471...
December 2, 2016: Developmental and Comparative Immunology
https://www.readbyqxmd.com/read/27918746/use-of-the-universal-pain-assessment-tool-for-evaluating-pain-associated-with-tmd-in-youngsters-with-an-intellectual-disability
#16
G Dugashvili, L Van den Berghe, G Menabde, M Janelidze, L Marks
BACKGROUND: The Universal Pain Assessment Tool (UPAT) was used to assess the level of pain in people with limited communication skills. The UPAT enables clinicians to consult a specialized pain management team more often and lead to earlier interventions. The purpose of this study was to determine, whether the UPAT could be used as an extra tool to collect data on functional TMJ pain and to assess orofacial pain levels related to temporomandibular disorder(s) (TMD) in people with intellectual disabilities (ID)...
December 6, 2016: Medicina Oral, Patología Oral y Cirugía Bucal
https://www.readbyqxmd.com/read/27917887/13-methylberberine-a-berberine-analogue-with-stronger-anti-adipogenic-effects-on-mouse-3t3-l1-cells
#17
Yit-Lai Chow, Mami Sogame, Fumihiko Sato
Lipid metabolism modulation is a main focus of metabolic syndrome research, an area in which many natural and synthetic chemicals are constantly being screened for in vitro and in vivo activity. Berberine, a benzylisoquinoline plant alkaloid, has been extensively investigated for its anti-obesity effects and as a potential cholesterol and triglyceride-lowering drug. We screened 11 protoberberine and 2 benzophenanthridine alkaloids for their anti-adipogenic effects on 3T3-L1 adipocytes and found that 13-methylberberine exhibited the most potent activity...
December 5, 2016: Scientific Reports
https://www.readbyqxmd.com/read/27917840/protein-production-crystallization-and-preliminary-crystallographic-analysis-of-the-four-n-terminal-immunoglobulin-domains-of-down-syndrome-cell-adhesion-molecule-1-corrigendum
#18
Linna Cheng, Shu Ang Li, Jia Huai Wang, Yamei Yu, Qiang Chen
An extra author is added to the article by Chen et al. [(2015), Acta Cryst. F71, 775-778].
December 1, 2016: Acta Crystallographica. Section F, Structural Biology Communications
https://www.readbyqxmd.com/read/27917003/bilingualism-and-biliteracy-in-down-syndrome-insights-from-a-case-study
#19
REVIEW
Kelly Burgoyne, Fiona J Duff, Dea Nielsen, Anastasia Ulicheva, Margaret J Snowling
We present the case study of MB-a bilingual child with Down syndrome (DS) who speaks Russian (first language [L1]) and English (second language [L2]) and has learned to read in two different alphabets with different symbol systems. We demonstrate that, in terms of oral language, MB is as proficient in Russian as English, with a mild advantage for reading in English, her language of formal instruction. MB's L1 abilities were compared with those of 11 Russian-speaking typically developing monolinguals and her L2 abilities to those of 15 English-speaking typically developing monolinguals and six monolingual English-speaking children with DS; each group achieving the same level of word reading ability as MB...
December 2016: Language Learning
https://www.readbyqxmd.com/read/27915443/successful-combination-of-endoscopic-pyloromyotomy-and-balloon-dilatation-for-hypertrophic-pyloric-stenosis-in-an-older-child-a-novel-procedure
#20
Satoshi Yokoyama, Shiro Uyama, Hiroyoshi Iwagami, Yukitaka Yamashita
BACKGROUND: Hypertrophic pyloric stenosis (HPS) is a rare cause of gastric outlet obstruction beyond infancy. Ramstedt pyloromyotomy remains the gold standard treatment for HPS. This type of HPS can be managed successfully with pyloromyotomy under laparoscopic or open procedures. Endoscopic pyloric balloon dilation (EPBD) has not been recommended in the treatment of HPS, and there are only a small number of reported cases who had had successful endoscopic pyloromyotomy (EP) for HPS only in infants...
December 2016: Surgical Case Reports
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