Book Reviews: A clinical guide to inherited metabolic diseases, 2nd ed.
Bibliographic record
Abstract
JTR Clarke Cambridge: Cambridge University Press; 2002. 188 pp. US$40 (paper) ISBN 0-521-89076-4 Rating: **** Audience: Pediatricians, clinical geneticists, residents and others involved in the care of patients with inherited metabolic disorders Content: An excellent book for physicians who find inherited metabolic disorders intimidating, this book is also an excellent source for those who already care for patients with these disorders and would like to solidify their understanding of basic principles. In general, books written on this area of medicine are descriptions of metabolic conditions, which implies that the patient already has a diagnosis. This book, however, teaches the reader how to proceed when an inherited metabolic disorder is suspected or needs to be ruled out. The information is presented in such a clear and simple fashion that few people would find this book difficult to read. In addition, each chapter and chapter subsection is brief enough to be read fairly quickly. I would suggest reading the introductory chapter and then reading the chapter or sections that are relevant to one's current practice or a particular case. For example, physicians who assess patients with developmental delay and want to determine which patients should undergo investigations to rule out a metabolic disorder should read the section on chronic encephalopathy in chapter 2. Strengths: In this book, Clarke teaches a complex subject in a simple but complete manner. Biochemical pathways are often intimidating for clinicians, but Clarke has managed to provide figures that are easily understood and yet provide all the necessary information. His tables and algorithms are excellent references to use for differential diagnosis in clinical situations. The author has also organized his material nicely into relevant chapters and subsections that address the clinical problems faced by physicians in day-to-day practice. Limitations: This book is intended to complement other textbooks that provide more in-depth descriptions of inherited metabolic disorders. Alicia K.J. Chan Clinical Geneticist University of Alberta Hospital Edmonton, Alta. This book is available through your local book retailer or through the publisher at books .cambridge .org/0521890764.htm
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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 | 0.003 |
| Meta-epidemiology (narrow) | 0.002 | 0.001 |
| Meta-epidemiology (broad) | 0.002 | 0.001 |
| Bibliometrics | 0.003 | 0.003 |
| Science and technology studies | 0.001 | 0.001 |
| Scholarly communication | 0.004 | 0.003 |
| Open science | 0.002 | 0.001 |
| Research integrity | 0.002 | 0.004 |
| Insufficient payload (model declined to judge) | 0.153 | 0.143 |
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".