Evidence map›Paper›PMID 31037088›Full record

ArticleIranian journal of child neurology2019

Niemann-Pick Diseases: The Largest Iranian Cohort with Genetic Analysis.

Somayyeh Hashemian, Peyman Eshraghi, Nafi Dilaver, Hamid Galehdari, Bita Shalbafan, Rahim Vakili, Nosrat Ghaemi, Najmeh Ahangari, Jamileh Rezazadeh Varaghchi, Jawaher Zeighami and 7 more

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In one paragraph

Article in Iranian journal of child neurology, 2019. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 5 papers.

0numbers the graph read from it
0cells of the map it votes in
5citing papers in PubMed
–field-weighted citation impact
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

5 citing papers in PubMed.

  1. Contradictory Effects on Hepatocytes in ASMD.International journal of molecular sciences · 2026
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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

17 authors.

Somayyeh HashemianDepartment of Pediatric Endocrinology and Metabolism, Akbar Hospital, Mashhad University of Medical Sciences, Mashhad, Iran.
Peyman EshraghiDepartment of Pediatric Endocrinology and Metabolism, Akbar Hospital, Mashhad University of Medical Sciences, Mashhad, Iran.
Nafi DilaverSwansea University College of Medicine, Swansea University, Swansea, UK.
Hamid GalehdariNarges Medical Genetics and Prenatal Diagnosis Laboratory, East Mihan Ave, Kianpars, Ahvaz, Iran.
Bita ShalbafanIran Social Security Organization, Labafinejad Hospital, Tehran, Iran.
Rahim VakiliMedical Genetic Research Center, Mashhad University of Medical Sciences, Mashhad, Iran.
Nosrat GhaemiDepartment of Pediatric Endocrinology and Metabolism, Akbar Hospital, Mashhad University of Medical Sciences, Mashhad, Iran.
Najmeh AhangariDepartment of Molecular Genetics, Hope Generation Genetic Polyclinic, Mashhad, Iran.
Jamileh Rezazadeh VaraghchiGenetic counselling and Rehabilitation Unit, Welfare organization, South Khorasan, Iran.
Jawaher ZeighamiNarges Medical Genetics and Prenatal Diagnosis Laboratory, East Mihan Ave, Kianpars, Ahvaz, Iran.
Alireza SedaghatNarges Medical Genetics and Prenatal Diagnosis Laboratory, East Mihan Ave, Kianpars, Ahvaz, Iran.
Majid AminzadehDepartment of Pediatrics, Ahvaz Jundishapur University of Medical Sciences, Ahvaz, Iran.
Mohammad HamidNarges Medical Genetics and Prenatal Diagnosis Laboratory, East Mihan Ave, Kianpars, Ahvaz, Iran.
Alihossein SaberiNarges Medical Genetics and Prenatal Diagnosis Laboratory, East Mihan Ave, Kianpars, Ahvaz, Iran.
Fereshteh AshtariDepartment of Neurology, School of Medicine, Isfahan University of Medical Science, Isfahan, Iran.
Ehsan Ghayoor KarimianiRazavi Cancer Research Center, Razavi Hospital, Imam Reza International University, Mashhad, Iran.
Gholamreza ShariatiNarges Medical Genetics and Prenatal Diagnosis Laboratory, East Mihan Ave, Kianpars, Ahvaz, Iran.

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

objectivesNiemann-Pick diseases (NPD) is an autosomal recessive inherited lysosomal lipid storage disorder which occurs due to a defect in cellular cholesterol trafficking, leading to excess lipid accumulation in multiple organ systems such as the brain, lungs, spleen, and liver. SPMD1-associated disease includes classic infantile and visceral NPD type A and B respectively. Type C NPD is subacute or juvenile. MATERIALS &

methodsDuring 2012-2016, the patients who had the clinical and biochemical signs and symptoms of different types of NPD, underwent genetic analysis. All patients were collected from five provinces in Iran (Razavi Khorasan, South Khorasan, Khozaestan, Isfahan and Tehran province). Sanger sequencing of the candidate genes for NPD was performed followed by bioinformatics analysis to confirm the types of NPD and to identify novel mutations. All patients underwent full clinical assessment.

resultsWe present two cases with NPD type A, six cases with NPD type B, and 11 cases with type C with various enzymatic defects identified in these cases. Within these 19 patients, we present 9 previously reported mutations and 10 novel mutations causing NPD.

conclusionThis study is the largest Iranian study for NPD analysis ever. Our report demonstrates that NPD has a variable age of onset and can present early in life. We investigated the clinical and genetic manifestations of a large Iranian cohort. Understanding the variable presentation of NPD will allow for clinicians to have a high index of suspicion for the disease.

Indexed as

Autosomal recessiveGenetic analysisIranNiemann-pick disease (NPD)

Identifiers

PMID31037088
PMCPMC6451857

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