Uncommon conditions

2016 ◽  
Author(s):  
Graham Hocking
Keyword(s):  
Medical Literature ◽  
Rare Disorders ◽  
Comprehensive List ◽  
Full Discussion

This chapter provides a series of vignettes of over 200 rare disorders, including many congenital syndromes. For reasons of space, a full discussion cannot be provided for each, but the most pertinent anaesthetic considerations are described, and a comprehensive list of recent references from the medical literature is provided.

scholarly journals CADA: Phenotype-driven gene prioritization based on a case-enriched knowledge graph

2021 ◽  
Author(s):  
Chengyao Peng ◽  
Simon Dieck ◽  
Alexander Schmid ◽  
Ashar Ahmad ◽  
Alexej Knaus ◽  
...  
Keyword(s):  
Medical Literature ◽  
Gene Prioritization ◽  
Superior Performance ◽  
Differential Diagnostics ◽  
Knowledge Graph ◽  
Rare Disorders ◽  
Health Records ◽  
Human Phenotype ◽  
Reduced Frequency ◽  
Reference Tool

AbstractMany rare syndromes can be well described and delineated from other disorders by a combination of characteristic symptoms. These phenotypic features are best documented with terms of the human phenotype ontology (HPO), which is increasingly used in electronic health records (EHRs), too. Many algorithms that perform HPO-based gene prioritization have also been developed, however, the performance of many such tools suffers from an overrepresentation of atypical cases in the medical literature. This is certainly the case if the algorithm cannot handle features that occur with reduced frequency in a disorder. With CADA we built a knowledge-graph that is based on case annotations and disorder annotations and show that CADA exhibits superior performance particularly for patients that present with the pathognomonic findings of a disease. Crucial in the design of our approach is the use of the growing amount of phenotypic information that diagnostic labs deposit in databases such as ClinVar. By this means CADA is an ideal reference tool for differential diagnostics in rare disorders that can also be updated regularly.

scholarly journals Establishment of a Comprehensive List of Candidate Antiaging Medicinal Herb Used in Korean Medicine by Text Mining of the Classical Korean Medical Literature, “Dongeuibogam,” and Preliminary Evaluation of the Antiaging Effects of These Herbs

2015 ◽  
Vol 2015 ◽  
pp. 1-29 ◽  
Author(s):  
Moo Jin Choi ◽  
Byung Tae Choi ◽  
Hwa Kyoung Shin ◽  
Byung Cheul Shin ◽  
Yoo Kyoung Han ◽  
...  
Keyword(s):  
Text Mining ◽  
Preliminary Data ◽  
Medical Literature ◽  
Medicinal Herbs ◽  
Medicinal Herb ◽  
Preliminary Evaluation ◽  
Medical Doctors ◽  
Korean Medicine ◽  
Comprehensive List ◽  
New Drug

The major objectives of this study were to provide a list of candidate antiaging medicinal herbs that have been widely utilized in Korean medicine and to organize preliminary data for the benefit of experimental and clinical researchers to develop new drug therapies by analyzing previous studies. “Dongeuibogam,” a representative source of the Korean medicine literature, was selected to investigate candidate antiaging medicinal herbs and to identify appropriate terms that describe the specific antiaging effects that these herbs are predicted to elicit. In addition, we aimed to review previous studies that referenced the selected candidate antiaging medicinal herbs. From our chosen source, “Dongeuibogam,” we were able to screen 102 terms describing antiaging effects, which were further classified into 11 subtypes. Ninety-seven candidate antiaging medicinal herbs were selected using the criterion that their antiaging effects were described using the same terms as those employed in “Dongeuibogam.” These candidates were classified into 11 subtypes. Of the 97 candidate antiaging medicinal herbs selected, 47 are widely used by Korean medical doctors in Korea and were selected for further analysis of their antiaging effects. Overall, we found an average of 7.7 previous studies per candidate herb that described their antiaging effects.

A Trial Consultant's View of the Medical Expert Witness

2013 ◽  
Vol 18 (4) ◽  
pp. 7-10
Author(s):  
Deborah Rutt ◽  
Kathyrn Mueller
Keyword(s):  
Nonverbal Communication ◽  
Expert Testimony ◽  
Medical Literature ◽  
Expert Witness ◽  
Personal Injury ◽  
Expert Witnesses ◽  
Good Teacher ◽  
Medical Expert ◽  
Medical Terms ◽  
Medical Issues

Abstract Physicians who use the AMA Guides to the Evaluation of Permanent Impairment (AMA Guides) often serve as medical expert witnesses. In workers’ compensation cases, the expert may appear in front of a judge or hearing officer; in personal injury and other cases, the physician may testify by deposition or in court before a judge with or without a jury. This article discusses why medical expert witnesses are needed, what they do, and how they can help or hurt a case. Whether it is rendered by a judge or jury, the final opinions rely on laypersons’ understanding of medical issues. Medical expert testimony extracts from the intricacies of the medical literature those facts the trier of fact needs to understand; highlights the medical facts pertinent to decision making; and explains both these in terms that are understandable to a layperson, thereby enabling the judge or jury to render well-informed opinions. For expert witnesses, communication is everything, including nonverbal communication that critically determines if judges and, particularly, jurors believe a witness. To these ends, an expert medical witnesses should know the case; be objective; be a good teacher; state opinions clearly; testify with appropriate professional demeanor; communicate well, both verbally and nonverbally; in verbal communications, explain medical terms and procedures so listeners can understand the case; and avoid medical jargon, finding fault or blaming, becoming argumentative, or appearing arrogant.

Medical Literature Searches -How Many Bibliographic Databases are Needed for Sufficient Retrieval in Medical Topics?

1985 ◽  
Vol 24 (03) ◽  
pp. 163-165 ◽  
Author(s):  
K. John
Keyword(s):  
Medical Literature ◽  
Cost Effective ◽  
Medical Faculty ◽  
Bibliographic Databases ◽  
Literature Searches ◽  
Selection Of

SummaryAs many bibliographic services in medicine are offered, literature searches in eight databases at DIMDI were performed to find out which database is most important in medicine. The distribution of publications from members of the medical faculty of Frankfurt University was examined. No save prediction is possible as to which database will yield most articles. Overlapping from different databases is often rather low. The selection of an appropriate database mix for sufficient recall and in a cost-effective manner.is a task for an experienced searcher.

Coordinating Medical Literature with Patient Care

1977 ◽  
Vol 16 (04) ◽  
pp. 234-240 ◽  
Author(s):  
Joann Gustafson ◽  
J. Nelson ◽  
Ann Buller
Keyword(s):  
Health Care ◽  
Medical Staff ◽  
Medical Information ◽  
Medical Literature ◽  
Medical Information System ◽  
Staff Members ◽  
Information Displays ◽  
Medical Displays ◽  
Computerized Medical Information ◽  
The Given

The contribution of a special library project to a computerized problem-oriented medical information system (PROMIS) is discussed. Medical information displays developed by the PROMIS medical staff are accessible to the health care provider via touch screen cathode terminals. Under PROMIS, members of the library project developed two information services, one concerned with the initial building of the medical displays and the other with the updating of this information. Information from 88 medical journals is disseminated to physicians involved in the building of the medical displays. Articles meeting predetermined selection criteria are abstracted and the abstracts are made available by direct selective dissemination or via a problem-oriented abstract file. The updating service involves comparing the information contained in the selected articles with the computerized medical displays on the given topic. Discrepancies are brought to the attention of PROMIS medical staff members who evaluate the information and make appropriate changes in the displays. Thus a feedback loop is maintained which assures the completeness, accuracy, and currency of the computerized medical information. The development of this library project and its interface with the computerized health care system thus attempts to deal with the problems in the generation, validation, dissemination, and application of medical literature.

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