Evidence map›Paper›PMID 38596180›Full record

ArticleRadiology case reports2024

Challenges of siblings with tuberous sclerosis showing various manifestations and severe complications.

Utami Purbasari, Nurhayati Adnan Prihartono, N Helda, Fatira Ratri Audita, Bobby S Dharmawan

Open access · goldAbstract readCase Reports
In one paragraph

Article in Radiology case reports, 2024. 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
0.3field-weighted citation impact, top 43% 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, 1 citations in OpenAlex.

  1. Observational
  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

5 authors at 2 institutions in 1 country.

Utami PurbasariDepartment of Radiology, Fatmawati General Hospital, Jl. RS. Fatmawati Raya, Num4, RT.4/RW.9, West Cilandak, District Cilandak, South Jakarta, Special Capital District of Jakarta. Postal Code: 12430.
Nurhayati Adnan PrihartonoDepartment of Radiology, Fatmawati General Hospital, Jl. RS. Fatmawati Raya, Num4, RT.4/RW.9, West Cilandak, District Cilandak, South Jakarta, Special Capital District of Jakarta. Postal Code: 12430.
N HeldaFaculty of Public Health, University of Indonesia, Jl. Lingkar Kampus Raya Universitas Indonesia, Depok, West Java Postal Code: 16424.
Fatira Ratri AuditaFaculty of Public Health, University of Indonesia, Jl. Lingkar Kampus Raya Universitas Indonesia, Depok, West Java Postal Code: 16424.
Bobby S DharmawanDepartment of Pediatrics, Fatmawati General Hospital, Jl. RS. Fatmawati Raya, Num4, RT.4/RW.9, West Cilandak, District Cilandak, South Jakarta, Special Capital District of Jakarta. Postal Code: 12430.
University of Indonesia · IDFatmawati Hospital · ID

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

Tuberous Sclerosis Complex (TSC) is a rare genetic disorder that primarily affects the central nervous system and various body organs. This case series describes the case history of 2 siblings from the same parents who were diagnosed with TSC. Case 1 is a 13-year-old girl with bilateral renal AML (angiomyolipoma), multiple fat nodules in the liver, and subependymal nodules with tubers revealed in the brain magnetic resonance imaging (MRI). Case 2 is her brother, a 6-year-old boy, who presented with manifestations of subependymal giant cell astrocytoma (SEGA) and renal AML. TSC must be managed with early diagnosis and intervention due to the risk of hamartoma enlargement. These 2 cases found in siblings underline the varied clinical presentations of TSC and the complexities faced by families with TSC. Early diagnosis is important to avoid TSC-related complications because, as time goes by, the disease will impact the patient's quality of life and increase morbidity and mortality. This case series also highlights the advantages of dermatological screening for the early detection of TSC, family screening, the need for multiple imaging modalities and counseling of family members with TSC, as well as the need for ongoing follow-up of this rare disorder.

Indexed as

SEGASiblings renal angiomyolipomaTSC

Identifiers

PMID38596180
PMCPMC11001616
OpenAlexW4394006814

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.