ITHAS BEEN known since 1959 that certain chromosomal aberrations are associated with syndromes of congenital malformations; thus explanations have been found for many malformations which were previously enigmatic. It is understandable that in the resulting literature chromosome findings and cytogenetic details were stressed, while teratologic effects were often not sufficiently emphasized. It seems worthwhile and timely to relate the results of autosomal trisomy studies to classifications of pathology and teratology of the various organ systems.It will be of value to describe for the benefit of clinical specialists the varieties of malformations produced by certain chromosomal aberrations. The cardiologist will be interested to see tables comparing the effects upon the heart of trisomy 13-15 (D1), and trisomy 18 with those of trisomy 21, and to learn of their relative frequency and variability. The same may be true for the neurologist, ophthalmologist, orthopedic, pediatric and plastic surgeon, urologist, and others.We have reviewed the literature of the known autosomal trisomies, listing the mal¬ formations according to organ systems. For malformations of internal organs we have used preferably necropsy findings which permit satisfactory comparison of the symp¬ toms of trisomy 13-15 and 18, since the. affected patients rarely survive the first two years of life. This circumstance is not generally true for trisomy 21, which is essentially composed of two populations, one with a high mortality in the first year of life and another that survives infancy. It is clear that this dichotomy influences incidence figures and types of congenital malforma¬ tions, particularly those of the heart, which are much higher and more serious in the group with early mortality than in the sur¬ vivors. Survival of patients with trisomy 21 often poses the question whether all anomalies described in the literature of Down's syndrome are congenital or not.Anomalies of the brain or ocular lens re¬ ported as characteristic of the syndrome may in fact be secondary changes developing after birth on the basis of defective tissues. Other difficulties encountered were differ¬ ences in reporting and terminology. Some pathologists list single anomalies, eg, ven¬ tricular septal defect and pulmonic stenosis, separately, while others write summarily of tetralogy of Fallot or cushion defect. Simi¬ lar discrepancies have occurred in reports on anomalies of other organ systems.Although the manifestations of the triso¬ mies enumerated below show recurring types and patterns, they cannot be considered final and definitive as new reports appear with observations of additional symptoms. But the tabulations given below can serve as a framework to be revised and completed.Arbitrarily we have limited this review to "regular" autosomal trisomies and have ex¬ cluded all structural chromosome abnorDownloaded From: http://archpedi.jamanetwork.com/ by a University of Manitoba User on 06/04/2015
Background:Musculoskeletal injury is a significant threat to readiness in the US Army. Current injury surveillance methods are constrained by accurate injury reporting. Input into electronic medical records or databases therefore may not accurately reflect injury incidence. The purpose of this study was to evaluate injury reporting among active-duty US Army soldiers to explore potential limitations of surveillance approaches.Hypothesis:A significant number of injuries go unreported to medical personnel.Study Design:Cross-sectional study.Level of Evidence:Level 4.Methods:Surveys were completed by soldiers assigned to an Army Infantry Brigade Combat Team. Survey questions inquired about injuries sustained in the previous 12 months, injury onset, and whether injuries were reported to a medical provider. Participants were asked to rank reasons for accurately reporting, underreporting, and/or exaggerating injuries. Chi-square analyses were used to compare differences among underreported injuries in terms of injury onset (gradual vs acute) and sex.Results:A total of 1388 soldiers reported 3202 injuries that had occurred in the previous 12-month period, including 1636 (51%) that were reported and 1566 (49%) that were identified as not reported to medical personnel. More than 49% of reported injuries were described as acute and 51% were described as chronic. Injury exaggeration was reported by 6% of soldiers. The most common reasons for not reporting injuries were fear that an injury might affect future career opportunities and avoidance of military “profiles” (mandated physical restrictions).Conclusion:Approximately half of musculoskeletal injuries in a Brigade Combat Team were not reported.Clinical Relevance:Unreported and untreated injuries can lead to reinjury, chronic pain, performance decrements, and increased costs associated with disability benefits. Additionally, unreported injuries can undermine injury surveillance efforts aimed at reducing the musculoskeletal injury problem in the military.
Over-the-counter pain medication was frequently used for symptom management among Soldiers who did not report their injury to a medical provider.
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