Patient actions and reactions after receiving negative results from expanded carrier screening.

With the expansion of carrier screening to general preconception and prenatal patient populations, most patients will receive negative results, which we define as indicating <25% risk of having a child with a genetic condition. Because there is limited experience with expanded carrier screening, it is important to understand how receiving negative results affects patients, especially as providers, payers, and policymakers consider whether to offer it. In this mixed-methods study, we asked preconception patients enrolled in the NextGen study about their expectations and experiences receiving negative expanded carrier screening results. Participants completed surveys at study enrollment (n = 110 women, 51 male partners), after receiving carrier results (n = 100 women, 38 male partners), after receiving secondary findings (n = 98 women, 36 male partners), and 6 months after receiving results (n = 95 women, 28 male partners). We also interviewed a subset of participants 12 to 24 months after receiving results (n = 24 women, 12 male partners). We found minimal negative emotional impact and privacy concerns, increased confidence in reproductive plans, and few changes to health behaviors, although some patients made health decisions based on misunderstandings of their results. These findings suggest that expanded carrier screening causes minimal psychosocial harms, but systems are needed to reduce the risk of misinterpreting results.

Tactile spatial resolution in blind braille readers.

OBJECTIVE: To determine if blind people have heightened tactile spatial acuity. BACKGROUND: Recently, studies using magnetic source imaging and somatosensory evoked potentials have shown that the cortical representation of the reading fingers of blind Braille readers is expanded compared to that of fingers of sighted subjects. Furthermore, the visual cortex is activated during certain tactile tasks in blind subjects but not sighted subjects. The authors hypothesized that the expanded cortical representation of fingers used in Braille reading may reflect an enhanced fidelity in the neural transmission of spatial details of a stimulus. If so, the quantitative limit of spatial acuity would be superior in blind people. METHODS: The authors employed a grating orientation discrimination task in which threshold performance is accounted for by the spatial resolution limits of the neural image evoked by a stimulus. The authors quantified the psychophysical limits of spatial acuity at the middle and index fingers of 15 blind Braille readers and 15 sighted control subjects. RESULTS: The mean grating orientation threshold was significantly (p = 0.03) lower in the blind group (1.04 mm) compared to the sighted group (1.46 mm). The self-reported dominant reading finger in blind subjects had a mean grating orientation threshold of 0.80 mm, which was significantly better than other fingers tested. Thresholds at non-Braille reading fingers in blind subjects averaged 1.12 mm, which were also superior to sighted subjects' performances. CONCLUSION: Superior tactile spatial acuity in blind Braille readers may represent an adaptive, behavioral correlate of cortical plasticity.

Forum.

A Forum for Our Readers Forum provides an opportunity for our readers to comment on the articles that we publish. Illustrative figures are welcome. Address correspondence to Forum, THE PHYSICIAN AND SPORTSMEDICINE, 4530 W 77th St, Minneapolis, MN 55435.

Rehabilitation outcomes after hip fracture in persons 90 years old and older.

Within the geriatric population, fracture of the proximal femur is a major problem that may lead to high mortality. Epidemiologists have reported that age greater than 75 is a negative factor in rehabilitation. In two studies, less than 10% of persons aged 90 and over regained ambulatory or prefracture status. This retrospective study describes the outcomes of rehabilitation of persons 90 years and older with fracture of the proximal femur. During a one-year period, 18 persons (17 women, one man), range 91 to 102 years (means 93 years), were referred from ten hospitals for rehabilitation after hip fracture. Eight physical therapists were involved at six different skilled nursing facilities covering a geographical area of 2300 square miles. The sample was determined to represent the regional population. Upon final physical therapy treatment all 16 surviving patients needed an assistive device for ambulation; 63% of the subjects attained independent ambulation; the average ambulatory distance was 133 ft; and 44% returned home. At one-year follow-up, 12/16 original patients survived, nine remaining patients were independent in ambulation, of whom five were at home. Under the prospective payment system with diagnosis-related groups, peculiar decisions are made that have an impact upon rehabilitation. Recovery of independent ambulation is an excellent index of rehabilitation outcome.

Strength training effect in young and aged women.

The purpose of this study was to compare the effects of isometric strength training of the nondominant left abductor digiti minimi muscles of young and aged women. The ten young subjects, mean age 22.6 years, were all nursing students. The ten older subjects, mean age 69.2 years, did not constitute a similar homogeneous group, although they all lived in the metropolitan area of Richmond, VA. All subjects were volunteers. Training consisted of each subject performing 20 maximal isometric contractions of the left abductor digiti minimi three times weekly for six weeks. A pretest and six weekly measurements of strength were made on a strain gauge. Significant strength increases were found for the pretest-posttest measurements within each group at the same p less than 0.0001 level. When both groups were compared on the initial strength measurement and on the six weekly measurements, no statistically significant differences were found. Therefore, the null hypothesis was accepted.

Rugby Injuries Sustained during Tournament Play.

Rugby football is a fast growing physical contact sport that is known for its ruggedness and injuries. Tournament play tests the stamina of the individual players and may have a cumulative wear and tear effect that results in different types of injuries. This study was conducted to determine what body parts are injured in a rugby tournament and how serious those injuries are. Climatic conditions, mainly heat and humidity, were considered to be major factors. Heat-related injuries were the single most important cause for termination of play. This type of injury is very serious and may be reduced or prevented by following simple guidelines for play based on the temperature-humidity index. Most other injuries were strains, sprains, contusions, and several lacerations to the knee, thorax, head, and neck; none was catastrophic. The reputation that rugby football is brutal does not seem justified by the injuries sustained in this tournament. J Orthop Sports Phys Ther 1985;7(1):16-19.