Evidence map›Paper›PMID 40881077›Full record

ArticleWorld journal of clinical pediatrics2025

Analysis of fatal outcomes of patients with mucopolysaccharidosis type II according to the Russian mucopolysaccharidosis registry.

Natalia Buchinskaya, Anastasia Vechkasova, Nato Vashakmadze, Leyla Namazova-Baranova, Dmitry Ivanov, Ekaterina Zakharova, Sergei Kutsev, Mikhail Kostik

Abstract read
PubMed Full text at PMC Publisher
In one paragraph

Article in World journal of clinical pediatrics, 2025. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Not yet cited in PubMed.

0numbers the graph read from it
0cells of the map it votes in
0citing 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

0 citing papers in PubMed.

No citing paper in PubMed yet.

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.

Natalia BuchinskayaHospital Pediatry, Saint-Petersburg State Pediatric Medical University, Saint-Petersburg 194100, Sankt-Peterburg, Russia.
Anastasia VechkasovaClinical Genetics, Saint-Petersburg State Medical Diagnostic Center, Saint Petersburg 194044, Sankt-Peterburg, Russia.
Nato VashakmadzeInstitution of the Maternity and Childhood, Pirogov Russian National Research Medical University, Moscow 117513, Moskva, Russia.
Leyla Namazova-BaranovaInstitution of the Maternity and Childhood, Pirogov Russian National Research Medical University, Moscow 117513, Moskva, Russia.
Dmitry IvanovDepartment of Neonatology, Saint Petersburg State Pediatric Medical University, Saint Petersburg 194100, Sankt-Peterburg, Russia.
Ekaterina ZakharovaMolecular and Genetic Diagnostics, Federal State Budgetary Scientific Institution, Research Center for Medical Genetics, Moscow 115478, Moskva, Russia.
Sergei KutsevMolecular and Genetic Diagnostics, Federal State Budgetary Scientific Institution, Research Center for Medical Genetics, Moscow 115478, Moskva, Russia.
Mikhail KostikHospital Pediatry, Saint-Petersburg State Pediatric Medical University, Saint-Petersburg 194100, Sankt-Peterburg, Russia. kost-mikhail@yandex.ru.

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

backgroundMucopolysaccharidosis type II (MPS II) is a chronic inherited disease with multiorgan involvement, a progressive course, and restricted life expectancy.

aimTo evaluate the predictors of fatal outcomes in MPS II patients.

methodsIn the retrospective cohort study, the clinical, laboratory data and enzyme replacement therapy (ERT) (84.2%) of about 160 patients were extracted and analyzed from the Russian MPS II registry, with death as a primary outcome. We compared patients who died (

resultsFatal outcomes occurred in 5%, 35%, 20%, and 40% of patients before 10, 10-14, 15-19, and ≥ 20 years. The most common causes of death were cardiovascular (29.4%), respiratory failure (17.6%), including pneumonia (17.6%), and their associations (17.6%) and MPS II progression (11.8%). Acute or chronic respiratory failure was in 53%. Died patients had higher birth weight, higher age of diagnosis, and start of ERT. Hydrocephalus, hydrocephalus bypass surgery, epilepsy, difficulty swallowing, and impaired movement after 12 years of age were significantly more common in the deceased patients. Cox regression analysis has revealed the following time-dependent covariates of the lethal outcome: 1

conclusionIncreased birth weight, delayed diagnosis and the start of ERT, and development of neuronopathic form with impossible walking after 12 years were the main predictors of the fatal outcome.

Indexed as

Genotype-phenotypeIDS geneLong-term outcomesMucopolysaccharidosis type IIRussian Federation

Identifiers

PMID40881077
PMCPMC12305060

What OpenQuestion holds

Textmetadata
LicenceCC BY-NC
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.