Evidence map›Paper›PMID 27942498›Full record

ReviewInternational journal of molecular and cellular medicine2016

Down Syndrome: Current Status, Challenges and Future Perspectives.

Mohammad Kazemi, Mansoor Salehi, Majid Kheirollahi

Open access · greenAbstract readReview
In one paragraph

Review in International journal of molecular and cellular medicine, 2016. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 46 papers, 2 of them syntheses that pooled it.

0numbers the graph read from it
0cells of the map it votes in
46citing papers in PubMed, 2 pooled it
30.2field-weighted citation impact, top 1% of its field
1 · What the graph read from it

What it found

Each row is one number read from the abstract, on the scale the paper reported it, with its interval. Left of the dashed line favours the treatment, right favours the comparator. Under each row is the sentence it came from. New to these charts? A ten-minute tutorial.

The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.

2 · The registry

The trial behind it

Trials whose registry record cites this paper, or whose number appears in the abstract. A trial that started after this paper was published is citing it as background, not reporting it.

Neither the registry nor the abstract names a trial number. If this is a trial report, that itself is worth knowing.

3 · Its place in the literature

Who cites it

46 citing papers in PubMed, 2 syntheses or guidelines pooled it, 156 citations in OpenAlex.

  1. COVID-19 in patients with Down syndrome: A systematic review.Immunity, inflammation and disease · 2024
    Pooled it
  2. Pooled it
  3. Trial
  4. Review
  5. Article
  6. Article
  7. Article
  8. Article
  9. Optimizing oral hygiene for children and adolescents with Down syndrome: a scoping review.Canadian journal of dental hygiene : CJDH = Journal canadien de l'hygiene dentaire : JCHD · 2025
    Article
  10. Metabolic dysfunction-associated liver disease and biliary lithiasis in children with Down Syndrome: a retrospective study.Revista paulista de pediatria : orgao oficial da Sociedade de Pediatria de Sao Paulo · 2025
    Article
  11. Review
  12. Article
  13. Article
  14. Article
  15. Down Syndrome and Autoimmune Disease.Clinical reviews in allergy & immunology · 2024
    Review
  16. Article
  17. Review
  18. Article
  19. Review
  20. The Ophthalmic Manifestations of Down Syndrome.Children (Basel, Switzerland) · 2023
    Review
4 · The record

Corrections and comments

PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.

5 · Who and what money

Authors and funding

3 authors at 1 institution in 1 country.

Mohammad KazemiDepartment of Genetics and Molecular Biology, School of Medicine, Isfahan University of Medical Sciences, Isfahan, Iran.; Medical Genetic Center of Genome, Isfahan, Iran.; Pediatric Inherited Diseases Research Center, Research Institute for Primordial Prevention of Non-communicable Disease, Isfahan University of Medical Sciences, Isfahan, Iran.
Mansoor SalehiDepartment of Genetics and Molecular Biology, School of Medicine, Isfahan University of Medical Sciences, Isfahan, Iran.; Medical Genetic Center of Genome, Isfahan, Iran.; Pediatric Inherited Diseases Research Center, Research Institute for Primordial Prevention of Non-communicable Disease, Isfahan University of Medical Sciences, Isfahan, Iran.
Majid KheirollahiDepartment of Genetics and Molecular Biology, School of Medicine, Isfahan University of Medical Sciences, Isfahan, Iran.; Pediatric Inherited Diseases Research Center, Research Institute for Primordial Prevention of Non-communicable Disease, Isfahan University of Medical Sciences, Isfahan, Iran.
Isfahan University of Medical Sciences · IR

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

Down syndrome (DS) is a birth defect with huge medical and social costs, caused by trisomy of whole or part of chromosome 21. It is the most prevalent genetic disease worldwide and the common genetic cause of intellectual disabilities appearing in about 1 in 400-1500 newborns. Although the syndrome had been described thousands of years before, it was named after John Langdon Down who described its clinical description in 1866. Scientists have identified candidate genes that are involved in the formation of specific DS features. These advances in turn may help to develop targeted therapy for persons with trisomy 21. Screening for DS is an important part of routine prenatal care. Until recently, noninvasive screening for aneuploidy depends on the measurement of maternal serum analytes and ultrasonography. More recent progress has resulted in the development of noninvasive prenatal screening (NIPS) test using cell-free fetal DNA sequences isolated from a maternal blood sample. A review on those achievements is discussed.

Indexed as

cell-free fetal DNA (cffDNA); noninvasive prenatal screening (NIPS)chromosome abnormalityDown syndromeprenatal diagnosistrisomy 21

Identifiers

PMID27942498
PMCPMC5125364
OpenAlexW2531086104

What OpenQuestion holds

Textmetadata
LicenceCC BY
Read underepoch 390

Registered trials

None linked

Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.