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Record W2050316036 · doi:10.4172/2165-7920.1000175

Brit Hogg Dube Syndrome - A Rare Disease Entity with Review of Literature

2012· article· en· W2050316036 on OpenAlexaff
K. Rashmi

Bibliographic record

VenueJournal of Clinical Case Reports · 2012
Typearticle
Languageen
FieldBiochemistry, Genetics and Molecular Biology
TopicHedgehog Signaling Pathway Studies
Canadian institutionsRegina Qu'Appelle Health RegionUniversity of Saskatchewan
Fundersnot available
KeywordsMedicineRare diseaseDiseaseBioinformaticsIntensive care medicinePathologyBiology

Abstract

fetched live from OpenAlex

Introduction: Birt-Hogg-Dubé Syndrome is very uncommon in the North America.Several families have been reported since Birt, Hogg, and Dubé described the original kindred in 1977.Birt-Hogg-Dubé Syndrome (BHDS) is inherited in an autosomal dominant pattern and may be due to inactivation of a tumor-suppressor gene, which results in the various skin lesions such as cutaneous hamartomas and risk of internal malignancies.We report a rare case of Birt-Hogg-Dubé Syndrome who presented with lung sarcoma no skin manifestation which is the usual presentation as seen in literature.Case Report: A 25-year-old female presented with some vague chest and abdominal symptoms.CT of the chest showed a mass in the left upper lobe and a cyst in the lung.She underwent left side upper lobectomy.Pathology reported low grade sarcoma, but was otherwise nonspecific.She had small lung cysts in lower lobe consistent with a history of Birt-Hogg-Dube syndrome.At 3 years follow up, patient doing very well.Genetic testing confirmed syndrome in family.Discussion: Mortality and morbidity associated with Birt-Hogg-Dubé syndrome is related to internal manifestations such as pneumothorax or renal cell carcinoma.The morbidity of cutaneous lesions is limited to cosmetic appearance.Surgical removal has provided definitive treatment of solitary perifollicular fibromas.Birt-Hogg-Dubé syndrome patients with a history of smoking appear to have more severe lung disease than those who do not smoke.Conclusion: Birt-Hogg-Dubé Syndrome (BHDS) cannot be prevented, but associated findings of renal carcinoma, pulmonary cysts and pneumothorax can be monitored.Birt-Hogg-Dubé syndrome patients should be counseled regarding the increased risk of pneumothorax with activities altering ambient pressure, such as scuba diving and air travel, particularly if they have chest pain or shortness of breath.Smoking cessation in BHDS patients should be strongly encouraged.

Fetched live from OpenAlex and de-inverted. Abstracts are not stored in this database: the inverted indexes are 8.6 GB of the frame’s 9.3 GB of text, and the host has 13 GB free.

How this classification was reachedexpand

Full frame machine prediction

Teacher imitation

Not calibrated prevalence, not ground truth. Human validation pending. The Gemma side is a direct model label for every work in the frame, read from the title-only record. The Codex side is a classifier learned from the 10,348 direct Codex labels and calibrated to design-weighted sample rates; fields without enough sample support carry no Codex call. Candidate is the union of the two sides; consensus is their intersection. These outputs are machine_predicted_unvalidated and are not human labels.

metaresearch head score (Codex)0.000
metaresearch head score (Gemma)0.001
Version: metacan-v3-hybrid-931329e0061cValidation status: machine_predicted_unvalidated
Candidate categoriesnone
Consensus categoriesnone
DomainCandidate signal: none · Consensus signal: none
Study designCandidate signal: Case report · Consensus signal: Case report
GenreCandidate signal: Empirical · Consensus signal: none
Teacher disagreement score0.005
Threshold uncertainty score0.011

Distilled classifier scores by category (both heads)

CategoryCodexGemma
Metaresearch0.0000.001
Meta-epidemiology (narrow)0.0020.000
Meta-epidemiology (broad)0.0010.000
Bibliometrics0.0050.004
Science and technology studies0.0010.001
Scholarly communication0.0010.002
Open science0.0010.001
Research integrity0.0020.001
Insufficient payload (model declined to judge)0.0030.001

Machine scores (provisional)

The two teacher heads of the student model, read on this work. A score orders the frame for review; it never asserts a category, and the validation status ships verbatim with every row.

Baseline scores from an immature model (maturity gate not passed, 7 training rounds). Scores rank; they never assert a category.

Opus teacher head0.035
GPT teacher head0.367
Teacher spread0.332 · how far apart the two teachers sit on this one work
Validation statusscore_only:v0-immature-baseline · verbatim from the scoring run: score_only means the number may rank works, and no category label ships from it

Classification

machine, unvalidated

Machine predicted; a candidate call from one source (direct Gemma or distilled Codex), not a consensus.

The models applied no category: nothing in the taxonomy fit this work.
Study designCase report
Domainnot available
GenreEmpirical

How this classification was reached, model by model and score by score, is at the end of the page under "How this classification was reached".

Quick stats

Citations2
Published2012
Admission routes1
Has abstractyes

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