Evidence map›Paper›PMID 34824882›Full record

ArticleAmerican journal of blood research2021

An experience with 124 cases of fanconi anemia: clinical spectrum, hematological parameters and chromosomal breakage analysis.

Rafia Mahmood, Asad Mahmood, Saleem Ahmed Khan, Raza Jaffar

Open access · greenAbstract read
In one paragraph

Article in American journal of blood research, 2021. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 3 papers, 1 of them a synthesis that pooled it.

0numbers the graph read from it
0cells of the map it votes in
3citing papers in PubMed, 1 pooled it
0.2field-weighted citation impact, top 46% 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

3 citing papers in PubMed, 1 synthesis or guideline pooled it, 3 citations in OpenAlex.

  1. Pooled it
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  3. 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

4 authors at 1 institution in 1 country.

Rafia MahmoodArmed Forces Institute of Pathology Rawalpindi, Pakistan.
Asad MahmoodArmed Forces Institute of Pathology Rawalpindi, Pakistan.
Saleem Ahmed KhanNational University of Medical Sciences (NUMS) Rawalpindi, Pakistan.
Raza JaffarArmed Forces Institute of Pathology Rawalpindi, Pakistan.
National University of Medical Sciences · PK

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

backgroundFanconi anemia is an inherited bone marrow failure syndrome characterized by somatic abnormalities and an increased predisposition to malignancies.

objectiveTo determine the clinical spectrum and evaluate the hematological parameters as well as highlight diagnosis by chromosomal breakage analysis of Fanconi anemia patients. MATERIAL AND

methodsA total of 124 patients were diagnosed as having Fanconi anemia from August 2014 to May 2020 at Armed Forces Institute of Pathology, Rawalpindi, Pakistan. Clinical details, somatic abnormalities, radiological findings, lab parameters and result of chromosomal breakage analysis were noted and analyzed.

resultsOne hundred and twenty four (14.29%) were diagnosed as having Fanconi anemia (FA) on chromosomal breakage test. Median age was 09 years 06 months. Male to female ratio was 1.9:1. Six of these patients exhibited mosaicism and were classified as FA mosaic. Somatic abnormalities were detected in 74 (59.7%) patients; the most common being skeletal abnormalities and short stature.

conclusionChromosomal breakage analysis is a cost-effective method for diagnosis of Fanconi anemia. Early diagnosis is pertinent for proper treatment and long term prognosis.

Indexed as

chromosomal breakage testDNA repairFanconi anemia

Identifiers

PMID34824882
PMCPMC8610795
OpenAlexW3214917958

What OpenQuestion holds

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Registered trials

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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.