Evidence map›Paper›PMID 38681476›Full record

ArticleCureus2024

Pseudohypoaldosteronism Type 1B and Cohen Syndrome: Novel Mutation, Unusual Combination, and Presentation.

Yassin Alsaleh, Hussain A Al Ghadeer, Aida Aljabri, Zahra Alhashim, Moneera Mohamed, Fadi Busaleh, Fatimah A Alramadhan, Manal M Alghazal

Abstract readCase Reports
PubMed Full text at PMC Publisher
In one paragraph

Article in Cureus, 2024. 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.

Yassin AlsalehEndocrinology and Diabetes, Maternity and Children's Hospital, Al-Ahsa, SAU.
Hussain A Al GhadeerPediatrics, Maternity and Children's Hospital, Al-Ahsa, SAU.
Aida AljabriEndocrinology and Diabetes, Almoosa Specialist Hospital, Al-Ahsa, SAU.
Zahra AlhashimEndocrinology and Diabetes, King Faisal General Hospital, Al-Ahsa, SAU.
Moneera MohamedEndocrinology and Diabetes, Maternity and Children's Hospital, Al-Ahsa, SAU.
Fadi BusalehPediatrics, Maternity and Children's Hospital, Al-Ahsa, SAU.
Fatimah A AlramadhanPediatrics, Maternity and Children's Hospital, Al-Ahsa, SAU.
Manal M AlghazalPediatrics, Maternity and Children's Hospital, Al-Ahsa, SAU.

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

Pseudohypoaldosteronism type 1 (PHA1) is a rare inherited disorder of resistance to aldosterone and presents with hyponatremia, hyperkalemia, and metabolic acidosis. Cohen syndrome (CS) is another rare inherited disease. Concurrent presentation with pseudohypoaldosteronism makes it so extraordinary and implies more challenges for clinicians. We report a case of a female with Cohen syndrome (novel mutation) and systemic pseudohypoaldosteronism, as well as the challenges we have encountered in the management of this patient.

Indexed as

cohen syndromenovel mutationpseudohypoadlosteronismscnn1a genevps13b gene

Identifiers

PMID38681476
PMCPMC11056278

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.