Medical Genetics in Clinical Practice

Two hundred and fifty-four patients were seen in the Genetic Clinics during 1973, the first full year of activity of the Department of Human Genetics, University of Cape Town. The current role of medical genetics in clinical practice is exemplified by an analysis and discussion of the problems presented by these individuals.S. Afr. Med. J., 48, 1759 (1974

A Primary Care Nurse-Delivered Walking Intervention in Older Adults: PACE (Pedometer Accelerometer Consultation Evaluation)-Lift Cluster Randomised Controlled Trial.

Background: Brisk walking in older people can increase step-counts and moderate to vigorous intensity physical activity (MVPA) in ≥10-minute bouts, as advised in World Health Organization guidelines. Previous interventions have reported step-count increases, but not change in objectively measured MVPA in older people. We assessed whether a primary care nurse-delivered complex intervention increased objectively measured step-counts and MVPA. Methods and Findings: A total of 988 60–75 year olds, able to increase walking and randomly selected from three UK family practices, were invited to participate in a parallel two-arm cluster randomised trial; randomisation was by household. Two-hundred-ninety-eight people from 250 households were randomised between 2011 and 2012; 150 individuals to the intervention group, 148 to the usual care control group. Intervention participants received four primary care nurse physical activity (PA) consultations over 3 months, incorporating behaviour change techniques, pedometer step-count and accelerometer PA intensity feedback, and an individual PA diary and plan. Assessors were not blinded to group status, but statistical analyses were conducted blind. The primary outcome was change in accelerometry assessed average daily step-counts between baseline and 3 months, with change at 12 months a secondary outcome. Other secondary outcomes were change from baseline in time in MVPA weekly in ≥10-minute bouts, accelerometer counts, and counts/minute at 3 months and 12 months. Other outcomes were adverse events, anthropometric measures, mood, and pain. Qualitative evaluations of intervention participants and practice nurses assessed the intervention’s acceptability. At 3 months, eight participants had withdrawn or were lost to follow-up, 280 (94%) individuals provided primary outcome data. At 3 months changes in both average daily step-counts and weekly MVPA in ≥10-minute bouts were significantly higher in the intervention than control group: by 1,037 (95% CI 513–1,560) steps/day and 63 (95% CI 40–87) minutes/week, respectively. At 12 months corresponding differences were 609 (95% CI 104–1,115) steps/day and 40 (95% CI 17–63) minutes/week. Counts and counts/minute showed similar effects to steps and MVPA. Adverse events, anthropometry, mood, and pain were similar in the two groups. Participants and practice nurses found the intervention acceptable and enjoyable. Conclusions : The PACE-Lift trial increased both step-counts and objectively measured MVPA in ≥10-minute bouts in 60–75 year olds at 3 and 12 months, with no effect on adverse events. To our knowledge, this is the first trial in this age group to demonstrate objective MVPA increases and highlights the value of individualised support incorporating objective PA assessment in a primary care setting. Trial Registration: Controlled-Trials.com ISRCTN4212256

Posterior dislocation of the elbow as an unusual presentation after a total hip replacement: a case report

<p>Abstract</p> <p>Introduction</p> <p>Posterior dislocation of the elbow is usually associated with trauma to the joint with a reported incidence of 3%to 6%. Chronic instability is usually symptomatic following the initial injury.</p> <p>Case presentation</p> <p>We report a case of posterior dislocation of the elbow occurring in a patient while using her arm to lift herself using a monkey pole on the second day following a total hip replacement. The dislocation was reduced under sedation in the ward. There were no signs or symptoms suggesting any joint hypermobility syndrome in the patient. Follow up 4 months following the injury revealed a complete recovery in the range of motion and a pain free elbow. There were no signs and symptoms of any instability.</p> <p>Conclusion</p> <p>This is the first time such a case is reported in the literature. It certainly demonstrates that even in the absence of instability a patient can be predisposed to low energy dislocation of the elbow.</p

In-flight angina pectoris; an unusual presentation

Background: An unusual case of typical angina which occurred on a long haul flight is presented. This case is notable as this was the index presentation, with no previous symptoms prior to this. Physiological changes at altitude can be marked, and include hypoxia, tachycardia and an increase in cardiac output. These changes were enough to expose underlying angina in our patient. Case presentation: A 68 year old man presented with typical cardiac chest pain on a long haul flight. His symptoms first started 10-15 min after take-off and resolved on landing. This was his index presentation, and there were no similar symptoms in the past. Background history included hypercholesterolaemia and benign prostatic hypertrophy only. He led a rather sedentary lifestyle. A CT coronary angiogram showed significant disease in the proximal left anterior descending artery and proximal right coronary artery. He went on to have a coronary angiogram with invasive physiological measurements, which determined both lesions were physiologically significant. Both arteries were treated with drug eluting stents. Since treatment, he once again embarked on a long haul flight, and was completely asymptomatic. Conclusion: The presentation of symptoms in this individual was rather unusual, but clearly caused by significant coronary artery disease. Potentially his sedentary lifestyle was not enough in day-to-day activities to promote anginal symptoms. When his cardiovascular system was physiologically stressed during flight, brought about by hypoxia, raised sympathetic tone and increased cardiac output, symptoms emerged. In turn, when landing, with atmospheric conditions normalised, physiological stress was removed, and symptoms resolved. Clinically therefore, one should not exclude symptoms that occur with differing physiological states, such as stress and altitude, as they are also potential triggers for myocardial ischaemia, despite absence of day-to-day symptoms

Syndromes with congenital brittle bones

BACKGROUND: There is no clear definition of osteogenesis imperfecta (OI). The most widely used classification of OI divides the disease in four types, although it has been suggested that there may be at least 12 forms of OI. These forms have been named with numbers, eponyms or descriptive names. Some of these syndromes can actually be considered congenital forms of brittle bones resembling OI (SROI). DISCUSSION: A review of different syndromes with congenital brittle bones published in the literature is presented. Syndromes are classified in "OI" (those secondary to mutations in the type I pro-collagen genes), and "syndromes resembling OI" (those secondary to mutations other that the type I pro-collagen genes, identified or not). A definition for OI is proposed as a syndrome of congenital brittle bones secondary to mutations in the genes codifying for pro-collagen genes (COL1A1 and COL1A2). SUMMARY: A debate about the definition of OI and a possible clinical and prognostic classification are warranted

Treatment of glenohumeral instability in rugby players

Rugby is a high-impact collision sport, with impact forces. Shoulder injuries are common and result in the longest time off sport for any joint injury in rugby. The most common injuries are to the glenohumeral joint with varying degrees of instability. The degree of instability can guide management. The three main types of instability presentations are: (1) frank dislocation, (2) subluxations and (3) subclinical instability with pain and clicking. Understanding the exact mechanism of injury can guide diagnosis with classical patterns of structural injuries. The standard clinical examination in a large, muscular athlete may be normal, so specific tests and techniques are needed to unearth signs of pathology. Taking these factors into consideration, along with the imaging, allows a treatment strategy. However, patient and sport factors need to be also considered, particularly the time of the season and stage of sporting career. Surgery to repair the structural damage should include all lesions found. In chronic, recurrent dislocations with major structural lesions, reconstruction procedures such as the Latarjet procedure yields better outcomes. Rehabilitation should be safe, goal-driven and athlete- specific. Return to sport is dependent on a number of factors, driven by the healing process, sport requirements and extrinsic pressures

Stretching the spines of gymnasts: a review

Gymnastics is noted for involving highly specialized strength, power, agility and flexibility. Flexibility is perhaps the single greatest discriminator of gymnastics from other sports. The extreme ranges of motion achieved by gymnasts require long periods of training, often occupying more than a decade. Gymnasts also start training at an early age (particularly female gymnasts), and the effect of gymnastics training on these young athletes is poorly understood. One of the concerns of many gymnastics professionals is the training of the spine in hyperextension-the ubiquitous 'arch' seen in many gymnastics positions and movements. Training in spine hyperextension usually begins in early childhood through performance of a skill known as a back-bend. Does practising a back-bend and other hyperextension exercises harm young gymnasts? Current information on spine stretching among gymnasts indicates that, within reason, spine stretching does not appear to be an unusual threat to gymnasts' health. However, the paucity of information demands that further study be undertaken