Evidence map›Paper›PMID 28717081›Full record

ArticleInternal medicine (Tokyo, Japan)2017

Severe Glomerular Endothelial Injury Associated with a Short D4Z4 Repeat on Chromosome 4q35.

Satoshi Hibino, Asami Takeda, Ichizo Nishino, Naoyuki Iwata, Masaru Nakano, Kazuki Tanaka, Satoshi Yamakawa, Takuhito Nagai, Osamu Uemura

Open access · diamondAbstract readCase Reports
PubMed Full text at PMC Publisher
In one paragraph

Article in Internal medicine (Tokyo, Japan), 2017. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 2 papers.

0numbers the graph read from it
0cells of the map it votes in
2citing papers in PubMed
–field-weighted citation impact, top 94% 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

2 citing papers in PubMed, 2 citations in OpenAlex.

  1. Article
  2. 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

9 authors at 1 institution in 1 country.

Satoshi HibinoPediatric Nephrology, Aichi Children's Health and Medical Center, Japan.
Asami TakedaDepartment of Nephrology, Nagoya Second Red Cross Hospital, Japan.
Ichizo NishinoDepartment of Neuromuscular Research, National Institute of Neuroscience, National Center of Neurology and Psychiatry, Japan.
Naoyuki IwataPediatric Nephrology, Aichi Children's Health and Medical Center, Japan.
Masaru NakanoPediatric Nephrology, Aichi Children's Health and Medical Center, Japan.
Kazuki TanakaPediatric Nephrology, Aichi Children's Health and Medical Center, Japan.
Satoshi YamakawaPediatric Nephrology, Aichi Children's Health and Medical Center, Japan.
Takuhito NagaiPediatric Nephrology, Aichi Children's Health and Medical Center, Japan.
Osamu UemuraPediatric Nephrology, Aichi Children's Health and Medical Center, Japan.
National Center of Neurology and Psychiatry · JP

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

The short D4Z4 repeat on chromosome 4q35 is a confirmatory genetic cause of facioscapulohumeral muscular dystrophy (FSHD), which presents with no renal complications. We herein report a five-year-old girl previously diagnosed with Coat's-like retinopathy, deafness, and mental retardation, who was found to have early-onset, severe FSHD. Despite the absence of muscle weakness, a Southern blot analysis showed a short D4Z4 repeat on chromosome 4q35. She presented with steroid-resistant nephrotic syndrome, and her renal histopathological findings were severe glomerular endothelial injury, which is a new complication associated with this genetic abnormality. Screening of renal complications may be necessary for FSHD patients. This patient requires close follow-up for her muscle symptoms.

Indexed as

Blotting, SouthernChild, PreschoolChromosomes, Human, Pair 4Endothelium, VascularFemaleHumansKidney GlomerulusMuscular Dystrophy, Facioscapulohumeralchromosome 4Coats diseaseD4Z4 repeatfacioscapulohumeral muscular dystrophyfocal segmental glomerulosclerosisglomerular endothelial injury

Identifiers

PMID28717081
PMCPMC5548678
OpenAlexW2734513564

What OpenQuestion holds

Textmetadata
LicenceCC BY-NC-ND
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.