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1. Down's syndrome

) and individualised educational programmes/resources are essential to maximise the potential of a person with Down's syndrome. Definition Down's syndrome (DS), or trisomy 21, is the most common genetic form of intellectual disability, occurring in 1 in 691 births. Parker SE, Mai CT, Canfield MA, et al. Updated National Birth Prevalence estimates for selected birth defects in the United States, 2004-2006. Birth Defects Res A Clin Mol Teratol. 2010;88:1008-1016. http://www.ncbi.nlm.nih.gov/pubmed/20878909?tool (...) Down's syndrome Down's syndrome - Symptoms, diagnosis and treatment | BMJ Best Practice You'll need a subscription to access all of BMJ Best Practice Search  Down's syndrome Last reviewed: February 2019 Last updated: May 2018 Summary Most common genetic cause of cognitive or intellectual disability, with a prevalence of 1 in 691 births. Characteristic physical features include brachycephaly with a flat occiput; epicanthal folds and upslanting palpebral fissures; Brushfield spots in the iris

2018 BMJ Best Practice

2. Morphine Pharmacokinetics in Children With Down Syndrome Following Cardiac Surgery. (Abstract)

tandem-mass spectrometry assay using dried blood spotting as opposed to large whole blood samples. Morphine concentration versus time data was modeled using population pharmacokinetics.A 16-bed cardiac ICU at an university-affiliated hospital.Forty-two patients (20 Down syndrome, 22 controls) were enrolled.None.The pharmacokinetics of morphine in pediatric patients with and without Down syndrome following cardiac surgery were analyzed. No significant difference was found in the patient (...) characteristics or variables assessed including morphine total dose or time on infusion. Time mechanically ventilated was longer in children with Down syndrome, and regarding morphine pharmacokinetics, the covariates analyzed were age, weight, presence of Down syndrome, and gender. Only age was found to be significant.This study did not detect a significant difference in morphine pharmacokinetics between Down syndrome and non-Down syndrome children with congenital heart disease.

2018 Pediatric Critical Care Medicine

4. Proteomic analysis of six- and twelve-month hippocampus and cerebellum in a murine Down syndrome model. Full Text available with Trip Pro

Proteomic analysis of six- and twelve-month hippocampus and cerebellum in a murine Down syndrome model. This study was designed to investigate the brain proteome of the Ts65Dn mouse model of Down syndrome. We profiled the cerebellum and hippocampus proteomes of 6- and 12-month-old trisomic and disomic mice by difference gel electrophoresis. We quantified levels of 2082 protein spots and identified 272 (170 unique UniProt accessions) by mass spectrometry. Four identified proteins are encoded (...) exist, which ameliorate the effect of trisomy in the Ts65Dn mice. Differences observed during aging may play a role in the accelerated deterioration of learning and memory seen in Ts65Dn mice.Copyright © 2017 Elsevier Inc. All rights reserved.

2017 Neurobiology of Aging

5. Correlation Between Optic Nerve Vessel Anomalies, Serum Angiogenic Factors and Renal Anomalies in Down Syndrome Children

wish to determine whether observation of optic disc vessels may serve as an indicator of elevated endostatin levels and other angiogenesis-dependent organs anomalies. Condition or disease Intervention/treatment Phase Down Syndrome Diagnostic Test: Funduscopic examination and retinal photography Diagnostic Test: Serum levels of endostatin and angiogenesis factors Diagnostic Test: Renal and low urinary tract Doppler ultrasound Diagnostic Test: Urinalysis Diagnostic Test: Anthropometric measures (...) to creatinuria ratio. A spot urine sample will be collected from first morning void. Diagnostic Test: Anthropometric measures and vitals signs weight, height and blood pressure will be assessed Control group n°1 Down Syndrome children's mothers Diagnostic Test: Funduscopic examination and retinal photography A standardized funduscopic examination and retinal photography will be performed by an ophthalmologist focusing on optic nerve. Diagnostic Test: Serum levels of endostatin and angiogenesis factors Serum

2017 Clinical Trials

6. Relationship Between Down Syndrome (DS) and Alzheimer's Disease (AD)

Relationship Between Down Syndrome (DS) and Alzheimer's Disease (AD) Relationship Between Down Syndrome (DS) and Alzheimer's Disease (AD) - Full Text View - ClinicalTrials.gov Hide glossary Glossary Study record managers: refer to the if submitting registration or results information. Search for terms x × Study Record Detail Saved Studies Save this study Warning You have reached the maximum number of saved studies (100). Please remove one or more studies before adding more. Relationship Between (...) Down Syndrome (DS) and Alzheimer's Disease (AD) The safety and scientific validity of this study is the responsibility of the study sponsor and investigators. Listing a study does not mean it has been evaluated by the U.S. Federal Government. of clinical studies and talk to your health care provider before participating. Read our for details. ClinicalTrials.gov Identifier: NCT02759887 Recruitment Status : Recruiting First Posted : May 3, 2016 Last Update Posted : November 3, 2016 See Sponsor: St

2016 Clinical Trials

7. Down Syndrome

, upslanting palpebral fissures, epicanthus, brushfield spots on the iris, protruding tongue, small ears, short, broad hands, fifth finger clinodactyly, simian crease, and moderate to severe mental retardation. Concepts Disease or Syndrome ( T047 ) , Congenital Abnormality ( T019 ) MSH ICD9 758.0 ICD10 , SnomedCT 41040004 , 254263008 , 205618003 , 205614001 , 157019002 LNC LP70386-5, LP19800-9, MTHU010201, MTHU020584, LA20088-3 English Down Syndrome , Down's Syndrome , Mongolism , Trisomy 21 , Syndrome (...) , Down's , Syndrome, Down , DOWN'S SYNDROME , Down's syndrome , MONGOLISM , Down's syndrome NOS , Down's syndrome, unspecified , trisomy 21 syndrome , DOWN SYNDROME , TRISOMY 21 , mongolism , Trisomy 21 Syndrome , trisomy 21 Down syndrome (diagnosis) , trisomy 21 Down syndrome , Syndrome Down's , Trisomy 21 NOS , Down Syndrome [Disease/Finding] , down s syndrome , morbus down , 21 trisomies , 21 trisomy , mongoloidism , downing syndrome , trisomy 21 , Down syndrome, unspecified , Downs syndrome

2018 FP Notebook

8. Distinct ocular expression in infants and children with Down syndrome in Cairo, Egypt: myopia and heart disease. Full Text available with Trip Pro

Distinct ocular expression in infants and children with Down syndrome in Cairo, Egypt: myopia and heart disease. The study establishes the importance of genetic background for the expression of Down syndrome phenotype.To define the ocular manifestations of Down syndrome in infants and children in Cairo, Egypt, a historically isolated region, and compare them with systemic features and with findings in other geographic groups.We prospectively studied the ocular status and systemic features of 90 (...) infants and children with Down syndrome and monitored all patients for 3 years. The complete ophthalmic examinations were performed along with ultrasonography, if media opacities were evident. Thyroid and cardiac status were assessed. An extensive literature search for comparison was performed.Outpatient clinical genetics department at the National Research Centre in Cairo, Egypt.Ocular and systemic manifestations of Down syndrome in infants and children in Cairo, and comparison of these features

2013 JAMA ophthalmology

9. Down Syndrome Screening Based on Dried Blood Spots and Cell-free Fetal DNA

Frame: April, 2015 ] Detection rate of trisomy 21 based on dried blood spots and cell-free fetal DNA. Compare the detection rate of screening test on dried blood spots with maternal serum screening test. Secondary Outcome Measures : positive predictive value and negative predictive value [ Time Frame: 3 years ] the number of patients can be detected in Down syn and the proportion of the actual number of cases to screening positive cases number Eligibility Criteria Go to Information from the National (...) to Layout table for additonal information Responsible Party: Peking Union Medical College Hospital ClinicalTrials.gov Identifier: Other Study ID Numbers: Down syndrome screening First Posted: April 23, 2013 Last Update Posted: April 23, 2013 Last Verified: April 2013 Keywords provided by Peking Union Medical College Hospital: prenatal testing for fetal aneuploidy dried blood spots cell-free fetal DNA detection rate cost-effectiveness Additional relevant MeSH terms: Layout table for MeSH terms Trisomy

2013 Clinical Trials

10. Ocular abnormalities and systemic disease in down syndrome. (Abstract)

Ocular abnormalities and systemic disease in down syndrome. Ocular problems as refractive errors, strabismus, accommodation, and cataract are well known in children with Down syndrome (DS). However, there is little information on the possible correlation of eye problems with systemic diseases such as heart defect (with or without surgery), hypotony, hypothyroidism, hearing loss, and others.Ophthalmic problems versus certain systemic diseases were studied in 65 children with DS, aged 2 months (...) to 13 years, referred to the University Eye Hospital Ljubljana, Slovenia from 2008 to 2010. Standard ophthalmic examination methods were used, and physical data were taken from pediatric records.Ocular findings included nystagmus (29.2%), esotropia (26.1%), epiphora (21.5%), Brushfield spots (16.9%), lens opacities (12.3%), abnormalities of the retinal vessels, foveal hypoplasia, or retinal pigment epithelium hyperplasia (32.2%), and optic disc pallor (7.6%). Hyperopia (36.9%) was the most frequent

2012 Strabismus

11. Down Syndrome (Treatment)

with Down syndrome may have nasolacrimal duct obstruction. [ ] Anterior segment assessment Evaluate corneas carefully for keratoconus, keratoglobus, or corneal hydrops. Scissoring of the retinoscopic reflex is an early finding in patients with keratoconus. Placido disks, keratometers, or topographies can be used to evaluate cooperative patients with Down syndrome who have keratoconus. Rizzuti and Munson signs appear later. Iris' Brushfield spots may occur in up to 90% of patients with trisomy 21 (...) ). Refractive error assessment Conducting a cycloplegic refraction is of utmost importance, as patients with Down syndrome may have high refractive errors, which, if left uncorrected, may lead to amblyopia. Medical Management A primary care provider should lead and coordinate the multisystemic evaluation of patients with Down syndrome. Awareness of systemic and ocular findings is essential for managing patients with trisomy 21. [ , ] Medical treatment of external eye diseases for patients with Down syndrome

2014 eMedicine.com

12. Down Syndrome (Overview)

with Down syndrome may have nasolacrimal duct obstruction. [ ] Anterior segment assessment Evaluate corneas carefully for keratoconus, keratoglobus, or corneal hydrops. Scissoring of the retinoscopic reflex is an early finding in patients with keratoconus. Placido disks, keratometers, or topographies can be used to evaluate cooperative patients with Down syndrome who have keratoconus. Rizzuti and Munson signs appear later. Iris' Brushfield spots may occur in up to 90% of patients with trisomy 21 (...) ). Refractive error assessment Conducting a cycloplegic refraction is of utmost importance, as patients with Down syndrome may have high refractive errors, which, if left uncorrected, may lead to amblyopia. Medical Management A primary care provider should lead and coordinate the multisystemic evaluation of patients with Down syndrome. Awareness of systemic and ocular findings is essential for managing patients with trisomy 21. [ , ] Medical treatment of external eye diseases for patients with Down syndrome

2014 eMedicine.com

13. Down Syndrome (Follow-up)

with Down syndrome may have nasolacrimal duct obstruction. [ ] Anterior segment assessment Evaluate corneas carefully for keratoconus, keratoglobus, or corneal hydrops. Scissoring of the retinoscopic reflex is an early finding in patients with keratoconus. Placido disks, keratometers, or topographies can be used to evaluate cooperative patients with Down syndrome who have keratoconus. Rizzuti and Munson signs appear later. Iris' Brushfield spots may occur in up to 90% of patients with trisomy 21 (...) ). Refractive error assessment Conducting a cycloplegic refraction is of utmost importance, as patients with Down syndrome may have high refractive errors, which, if left uncorrected, may lead to amblyopia. Medical Management A primary care provider should lead and coordinate the multisystemic evaluation of patients with Down syndrome. Awareness of systemic and ocular findings is essential for managing patients with trisomy 21. [ , ] Medical treatment of external eye diseases for patients with Down syndrome

2014 eMedicine.com

14. Down Syndrome (Diagnosis)

with Down syndrome may have nasolacrimal duct obstruction. [ ] Anterior segment assessment Evaluate corneas carefully for keratoconus, keratoglobus, or corneal hydrops. Scissoring of the retinoscopic reflex is an early finding in patients with keratoconus. Placido disks, keratometers, or topographies can be used to evaluate cooperative patients with Down syndrome who have keratoconus. Rizzuti and Munson signs appear later. Iris' Brushfield spots may occur in up to 90% of patients with trisomy 21 (...) ). Refractive error assessment Conducting a cycloplegic refraction is of utmost importance, as patients with Down syndrome may have high refractive errors, which, if left uncorrected, may lead to amblyopia. Medical Management A primary care provider should lead and coordinate the multisystemic evaluation of patients with Down syndrome. Awareness of systemic and ocular findings is essential for managing patients with trisomy 21. [ , ] Medical treatment of external eye diseases for patients with Down syndrome

2014 eMedicine.com

15. Down Syndrome (Overview)

. [ , , , , ] It is characterized by , dysmorphic facial features, and other distinctive phenotypic traits. Down syndrome is primarily caused by trisomy of chromosome 21; this is the most common trisomy among live births. The term mongolism was once commonly used for Down syndrome but is now considered obsolete. [ , , ] Like most diseases associated with chromosomal abnormalities, trisomy 21 gives rise to multiple systemic complications as part of the clinical syndrome. This chromosomal anomaly leads to both structural (...) chromosomes in mongolism. Lancet . 1959 Apr 4. 1(7075):710. . Peterson MB, Mikkelsen M. Nondisjunction in trisomy 21: origin and mechanisms. Cytogenet Cell Genet . 2000. 91:199-203. Down JL. Observations on an ethnic classification of idiots. 1866. Ment Retard . 1995 Feb. 33(1):54-6. . LEJEUNE J, GAUTIER M, TURPIN R. [Study of somatic chromosomes from 9 mongoloid children]. C R Hebd Seances Acad Sci . 1959 Mar 16. 248(11):1721-2. . Levenson D. Talking about Down syndrome. Am J Med Genet A . 2009 Feb 15

2014 eMedicine Pediatrics

16. Down Syndrome (Diagnosis)

. [ , , , , ] It is characterized by , dysmorphic facial features, and other distinctive phenotypic traits. Down syndrome is primarily caused by trisomy of chromosome 21; this is the most common trisomy among live births. The term mongolism was once commonly used for Down syndrome but is now considered obsolete. [ , , ] Like most diseases associated with chromosomal abnormalities, trisomy 21 gives rise to multiple systemic complications as part of the clinical syndrome. This chromosomal anomaly leads to both structural (...) chromosomes in mongolism. Lancet . 1959 Apr 4. 1(7075):710. . Peterson MB, Mikkelsen M. Nondisjunction in trisomy 21: origin and mechanisms. Cytogenet Cell Genet . 2000. 91:199-203. Down JL. Observations on an ethnic classification of idiots. 1866. Ment Retard . 1995 Feb. 33(1):54-6. . LEJEUNE J, GAUTIER M, TURPIN R. [Study of somatic chromosomes from 9 mongoloid children]. C R Hebd Seances Acad Sci . 1959 Mar 16. 248(11):1721-2. . Levenson D. Talking about Down syndrome. Am J Med Genet A . 2009 Feb 15

2014 eMedicine Pediatrics

17. Hunter Syndrome with Extensive Mongolian Spots Full Text available with Trip Pro

Hunter Syndrome with Extensive Mongolian Spots 28566927 2018 11 13 1013-9087 29 3 2017 Jun Annals of dermatology Ann Dermatol Hunter Syndrome with Extensive Mongolian Spots. 381-382 10.5021/ad.2017.29.3.381 You Hyang-Suk HS Department of Dermatology, School of Medicine, Pusan National University, Busan, Korea. Kim Woo-Il WI Department of Dermatology, School of Medicine, Pusan National University, Busan, Korea. Department of Dermatology, Pusan National University Yangsan Hospital, Yangsan, Korea

2017 Annals of dermatology

18. Prevalence of ocular abnormalities in adults with Down syndrome in Hong Kong. Full Text available with Trip Pro

Prevalence of ocular abnormalities in adults with Down syndrome in Hong Kong. This was a cross-sectional survey to find the prevalence of visual impairment and eye diseases among adults with Down syndrome (DS) in Hong Kong.91 DS patients over the age of 30 were recruited through the Hong Kong Down Syndrome Association. Each patient was provided with a complete ophthalmological assessment including best corrected visual acuity, refraction, slit lamp and fundus examination.In our sample, 56.6 (...) % and 72.7% of the eyes, respectively. Blepharitis and chalazion were found in 44% of the eyes, while corneal problems were present in 27.5%. There were low incidences of infective keratitis (0.5%), keratoconus (0.5%) and Brushfield spots (1.1%). Cataracts were found in 72.2% of the eyes; 26.1% were congenital and 44.9% were age-related. Fundal abnormalities were present in 49.5% of the eyes.There is a high prevalence of vision impairment among Chinese DS adults. Uncorrected refractive errors, high

2013 British Journal of Ophthalmology

19. Mongolian Spot

Mongolian Spot Mongolian Spot Toggle navigation Brain Head & Neck Chest Endocrine Abdomen Musculoskeletal Skin Infectious Disease Hematology & Oncology Cohorts Diagnostics Emergency Findings Procedures Prevention & Management Pharmacy Resuscitation Trauma Emergency Procedures Ultrasound Cardiovascular Emergencies Lung Emergencies Infectious Disease Pediatrics Neurologic Emergencies Skin Exposure Miscellaneous Abuse Cancer Administration 4 Mongolian Spot Mongolian Spot Aka: Mongolian Spot (...) , 40467008 Swedish Mongolfläck Czech mongolská skvrna , Mongolská skvrna Finnish Mongoliläiskä Italian Chiazza mongolica blu , Macchia mongolica , Chiazza mongolica Russian MONGOL'SKOE PIATNO , МОНГОЛЬСКОЕ ПЯТНО English Mongolian spots (physical finding) , Mongolian spots , Mongolian spots were observed , Mongolian Spot [Disease/Finding] , mongolian blue spot , mongolian spot , mongolian spots , blue mongolian spots , Spots - mongolian , Blue sacral spot , Mongolian macula , Mongolian spot , Mongolian

2018 FP Notebook

20. Down Syndrome

, upslanting palpebral fissures, epicanthus, brushfield spots on the iris, protruding tongue, small ears, short, broad hands, fifth finger clinodactyly, simian crease, and moderate to severe mental retardation. Concepts Disease or Syndrome ( T047 ) , Congenital Abnormality ( T019 ) MSH ICD9 758.0 ICD10 , SnomedCT 41040004 , 254263008 , 205618003 , 205614001 , 157019002 LNC LP70386-5, LP19800-9, MTHU010201, MTHU020584, LA20088-3 English Down Syndrome , Down's Syndrome , Mongolism , Trisomy 21 , Syndrome (...) , Down's , Syndrome, Down , DOWN'S SYNDROME , Down's syndrome , MONGOLISM , Down's syndrome NOS , Down's syndrome, unspecified , trisomy 21 syndrome , DOWN SYNDROME , TRISOMY 21 , mongolism , Trisomy 21 Syndrome , trisomy 21 Down syndrome (diagnosis) , trisomy 21 Down syndrome , Syndrome Down's , Trisomy 21 NOS , Down Syndrome [Disease/Finding] , down s syndrome , morbus down , 21 trisomies , 21 trisomy , mongoloidism , downing syndrome , trisomy 21 , Down syndrome, unspecified , Downs syndrome

2015 FP Notebook

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