Thirty Years of Followup in 3 Patients with Familial Polyarteritis Nodosa due to Adenosine Deaminase 2 Deficiency
Bibliographic record
Abstract
Three sisters of Northern European descent provided an opportunity to examine the longterm course and possible familial aspects of a rare disease, polyarteritis nodosa (PAN). Approval and consent was obtained from each patient. The sisters have been cared for in the Johns Hopkins Vasculitis Center for the past 3 decades. At age 7, the first sister developed rash, fever, lethargy, and a deviated right eye and was treated empirically for tuberculosis. At age 8, these symptoms recurred along with abdominal pain, hypertension, and stroke. Renal angiography demonstrated microaneurysms and a skin biopsy confirmed the diagnosis of PAN. She was initiated on prednisone and azathioprine (AZA). Within the following year, she developed 2 bowel perforations with pathology demonstrating PAN and was treated with cyclophosphamide (CYC). By age 17, methotrexate was added for abdominal pain in the context of worsening mesenteric angiography. At age 19, she developed mononeuritis multiplex, and acute abdominal pain led to discovery of a ruptured renal aneurysm and upper gastrointestinal (GI) bleed, necessitating gastrectomy. She was treated with prednisone, CYC, and total parenteral nutrition. From ages 19 to 25 years, she had 8 hospitalizations for abdominal angina and GI bleeding and 1 for stroke. Angiography during this period showed 95–99% stenosis of the celiac artery and diffuse changes of PAN in the superior and inferior mesenteric arteries as well as active skin lesions. … Address correspondence to Dr. J. Liebowitz, Johns Hopkins University, Division of Rheumatology, 5200 Eastern Ave., MFL Bldg., Center Tower, Suite 4100, Baltimore, Maryland 21224, USA. E-mail: jliebow3{at}jhmi.edu
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 imitationNot 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.
Distilled classifier scores by category (both heads)
| Category | Codex | Gemma |
|---|---|---|
| Metaresearch | 0.001 | 0.002 |
| Meta-epidemiology (narrow) | 0.001 | 0.001 |
| Meta-epidemiology (broad) | 0.001 | 0.001 |
| Bibliometrics | 0.001 | 0.001 |
| Science and technology studies | 0.002 | 0.001 |
| Scholarly communication | 0.001 | 0.001 |
| Open science | 0.000 | 0.001 |
| Research integrity | 0.001 | 0.001 |
| Insufficient payload (model declined to judge) | 0.001 | 0.000 |
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.
score_only:v0-immature-baseline · verbatim from the scoring run: score_only means the number may rank works, and no category label ships from itClassification
machine, unvalidatedMachine predicted; a candidate call from one source (direct Gemma or distilled Codex), not a consensus.
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".