ArticleeNeurologicalSci2019
Simple schwannomatosis or an incomplete Coffin-Siris? Report of a particular case.
Article in eNeurologicalSci, 2019. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 22 papers, 3 of them syntheses that pooled 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.
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.
Who cites it
22 citing papers in PubMed, 3 syntheses or guidelines pooled it, 24 citations in OpenAlex.
- Gene Polymorphisms Increasing the Risk of Intracranial Aneurysms: Interleukin-1β -511C>T (Part I).Acta bio-medica : Atenei Parmensis · 2022Pooled it
- Gene Polymorphisms Increasing the Risk of Intracranial Aneurysms: Interleukin-6 -174G>C and -572G>C (Part II).Acta bio-medica : Atenei Parmensis · 2022Pooled it
- Microsurgical Neurovascular Anatomy of the Brain: The Anterior Circulation (Part I).Acta bio-medica : Atenei Parmensis · 2021Pooled it
- Pediatric head trauma algorithm for head CT decision-making in the emergency department.Journal of anesthesia, analgesia and critical care · 2025Article
- Coffin-Siris Syndrome and SMARCB1 Mutation Presenting With Schwannomatosis: A Case Report and Literature Review.Cureus · 2024Article
- Microneurosurgical anatomy of the basal cisterns: A brief review for cisternostomy.Surgical neurology international · 2023Article
- Brain AVMs-Related microRNAs: Machine Learning Algorithm for Expression Profiles of Target Genes.Brain sciences · 2022Review
- Word2vec Word Embedding-Based Artificial Intelligence Model in the Triage of Patients with Suspected Diagnosis of Major Ischemic Stroke: A Feasibility Study.International journal of environmental research and public health · 2022Article
- Therapeutic aspects of Sydenham's Chorea: an update.Acta bio-medica : Atenei Parmensis · 2022Review
- Human Herpes Virus 7-related encephalopathy in children.Acta bio-medica : Atenei Parmensis · 2022Article
- PRES-like leukoencephalopathy presenting with status epilepticus associated with Brentuximab Vedotin treatment.Acta bio-medica : Atenei Parmensis · 2022Article
- The Modular Concept in Skull Base Surgery: Anatomical Basis of the Median, Paramedian and Lateral Corridors.Acta bio-medica : Atenei Parmensis · 2021Article
- Microsurgical Neurovascular Anatomy of the Brain: The Posterior Circulation (Part II).Acta bio-medica : Atenei Parmensis · 2021Review
- Effectiveness of Streptococcus Pneumoniae Urinary Antigen Testing in Decreasing Mortality of COVID-19 Co-Infected Patients: A Clinical Investigation.Medicina (Kaunas, Lithuania) · 2020Article
- Gene therapies for high-grade gliomas: from the bench to the bedside.Acta bio-medica : Atenei Parmensis · 2020Review
- The impact of stem cells in neuro-oncology: applications, evidence, limitations and challenges.Acta bio-medica : Atenei Parmensis · 2020Review
- Adoptive immunotherapies in neuro-oncology: classification, recent advances, and translational challenges.Acta bio-medica : Atenei Parmensis · 2020Article
- Innovative therapies for malignant brain tumors: the road to a tailored cure.Acta bio-medica : Atenei Parmensis · 2020Article
- Rates of Intracranial Hemorrhage in Mild Head Trauma Patients Presenting to Emergency Department and Their Management: A Comparison of Direct Oral Anticoagulant Drugs with Vitamin K Antagonists.Medicina (Kaunas, Lithuania) · 2020Observational
- Minimal Invasive Piezoelectric Osteotomy in Neurosurgery: Technic, Applications, and Clinical Outcomes of a Retrospective Case Series.Veterinary sciences · 2020Article
Corrections and comments
PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.
Authors and funding
5 authors at 2 institutions in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
backgroundSchwannomatosis is a genetic disorder that belongs to NF family. The mutation of SMARCB1 gene has been related to this entity and Coffin-Siris syndrome, as well. We reported a case of a female patient with SMARCB1 mutation who has developed a spontaneuous spleen rupture. CASE DESCRIPTION: A 28 years old female patient with a story of a Sjogren syndrome, celiac disease and a surgically treated schwannoma, presented to our observation in July 2013 for a pain on the left elbow, where a tumefation was present. After neuroradiological evaluations, a surgical resection was performed and a schwannoma was diagnosed. Genetic exams revealed a puntiform SMARCB1 gene mutation. During 2015, she was subdued to the removal of an another schwannoma located into the cervical medullary canal. Few months later, she was operated in an another hospital for a spontaneous spleen rupture in a possible context of wandering spleen.
conclusionWe think that the patient could suffer from a partially expressed Coffin-Siris syndrome. No cases of spontaneous rupture in a context of wandering spleen have been ever described as for as schwannomatosis or Coffin-Siris syndrome are concerned. More cases are necessary to establish a direct relationship.
Indexed as
Identifiers
What OpenQuestion holds
Registered trials
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.