Evidence map›Paper›PMID 34285547›Full record

ArticleThe application of clinical genetics2021

Successful Pregnancy Following Preimplantation Genetic Diagnosis of Adrenoleukodystrophy by Detection of Mutation on the

Son Trinh The, Sang Trieu Tien, Tam Vu Van, Nhat Nguyen Ngoc, My Tran Ngoc Thao, Khoa Tran Van, Dinh Vu Nhat, Binh Do Nhu

Open access · goldAbstract read
In one paragraph

Article in The application of clinical genetics, 2021. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 1 paper.

0numbers the graph read from it
0cells of the map it votes in
1citing papers in PubMed
0.2field-weighted citation impact, top 47% 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

1 citing paper in PubMed, 4 citations in OpenAlex.

  1. Article
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

8 authors at 3 institutions in 2 countries.

Son Trinh The *Military Institute of Clinical Embryology and Histology, Vietnam Military Medical University, Hanoi, 12108, Vietnam.ORCID 0000-0002-3807-9645
Sang Trieu Tien *Department of Biology and Genetics, Vietnam Military Medical University, Hanoi, 12108, Vietnam.
Tam Vu VanDirector Office, Hai Phong Hospital of Obstetrics and Gynecology, Haiphong, 40000, Vietnam.
Nhat Nguyen NgocMilitary Institute of Clinical Embryology and Histology, Vietnam Military Medical University, Hanoi, 12108, Vietnam.ORCID 0000-0003-3378-9290
My Tran Ngoc ThaoDépartement de formation Biologie moléculaire et cellulaire, Sorbonne University, Paris, 75006, France.ORCID 0000-0001-5237-4723
Khoa Tran VanDepartment of Biology and Genetics, Vietnam Military Medical University, Hanoi, 12108, Vietnam.
Dinh Vu NhatDirector Office, Military Hospital 103, Hanoi, 12108, Vietnam.
Binh Do NhuDivision of Military Science, Military Hospital 103, Hanoi, 12108, Vietnam.ORCID 0000-0002-1377-3921
Vietnam Military Medical University · VNHai Phong University · VNSorbonne Université · FR

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

backgroundAdrenoleukodystrophy (ALD) is a rare sex-linked recessive disorder that disrupts adrenal gland function and the white matter of the nervous system. According to recent epidemiological statistics, up to this moment, the disease is the most recorded peroxisomal disorder. MATERIAL AND

methodsA heterozygous

resultsThe established protocol for PGD of ALD detected mutant alleles in 5/8 embryos (62.5%), while the remaining 3 embryos (37.5%) did not carry any mutation. One of the 3 embryos was transferred, and a healthy female baby was born after a full-term pregnancy.

conclusionThe developed protocol was helpful for the preimplantation genetic diagnosis process to help families with the monogenic disease of ALD but wish to have healthy children.

Indexed as

ABCD1 gene mutationadrenoleukodystrophyALDperoxisome disorderPGDpreimplantation genetic diagnosis

Identifiers

PMID34285547
PMCPMC8286725
OpenAlexW3177557142

What OpenQuestion holds

Textmetadata
LicenceCC BY-NC
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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.