Genomic insights into the early peopling of the Caribbean.

The Caribbean was one of the last regions of the Americas to be settled by humans, but where they came from and how and when they reached the islands remain unclear. We generated genome-wide data for 93 ancient Caribbean islanders dating between 3200 and 400 calibrated years before the present and found evidence of at least three separate dispersals into the region, including two early dispersals into the Western Caribbean, one of which seems connected to radiation events in North America. This was followed by a later expansion from South America. We also detected genetic differences between the early settlers and the newcomers from South America, with almost no evidence of admixture. Our results add to our understanding of the initial peopling of the Caribbean and the movements of Archaic Age peoples in the Americas.

Origins and genetic legacies of the Caribbean Taino.

The Caribbean was one of the last parts of the Americas to be settled by humans, but how and when the islands were first occupied remains a matter of debate. Ancient DNA can help answering these questions, but the work has been hampered by poor DNA preservation. We report the genome sequence of a 1,000-year-old Lucayan Taino individual recovered from the site of Preacher's Cave in the Bahamas. We sequenced her genome to 12.4-fold coverage and show that she is genetically most closely related to present-day Arawakan speakers from northern South America, suggesting that the ancestors of the Lucayans originated there. Further, we find no evidence for recent inbreeding or isolation in the ancient genome, suggesting that the Lucayans had a relatively large effective population size. Finally, we show that the native American components in some present-day Caribbean genomes are closely related to the ancient Taino, demonstrating an element of continuity between precontact populations and present-day Latino populations in the Caribbean.

Developing effective assignment feedback for an interprofessional learning module-An action research project.

BACKGROUND: The first year interprofessional learning module at University Campus Suffolk (UCS) is delivered to 300 students and the students' assignments are marked by 20 members of staff from different health and social care professions. We were keen to find a way to reduce any inconsistencies and work with both staff and students to ensure that the essay and subsequent feedback were useful for all involved. AIMS: The aims of the project were to evaluate the current marking process and feedback sheets used for year one inter-professional learning (IPL) marking, and to develop an appropriate marking tool and feedback sheet that would enable markers to provide more consistent feedback to the students. METHODS: Participatory action research was used with both students and staff members being involved. Focus group and questions were used to ascertain views about the assignment feedback. CONCLUSIONS: The feedback from this action learning project helped us to enhance the feedback for students. There was also an increase in engagement with the assessment and feedback process amongst both staff and students.

Benefits of infant massage.

After spending three months as a clinical midwifery tutor at a remote hospital in Zambia, where I helped to train student midwives and other students, my interest in infant massage was ignited, having witnessed the benefits of massage to both mother and baby. Once back in the UK, I trained and qualified as a massage instructor with an international infant massage training organisation, which has led me to work extensively with parents and babies, offering one-to-one and group courses. It has been a privilege to be able to teach parents the valuable skill of infant massage, and consequently pass on the benefits both physiological and psychosocial.

Fusidic acid-resistant Staphylococcus aureus (FRSA) carriage in patients with atopic eczema and pattern of prior topical fusidic acid use.

We questioned 62 dermatology outpatients with atopic eczema and Staphylococcus aureus colonisation regarding their use of topical preparations containing fusidic acid during the previous 6 months as well as the pattern of any such use. Recent exposure to topical fusidic acid was significantly correlated with the presence of fusidic acid-resistant S. aureus (FRSA) (P=0.04). There was also a significant trend towards increasing FRSA carriage with increased duration of use. Short courses of 2 weeks or less did not appear to change the FRSA profile compared with non-exposure, and intermittent usage appeared to be the most detrimental, although subgroup sizes were small. Our study cautions against prolonged or intermittent use of fusidic acid-containing products in patients with eczema.

Cardiac and clinical phenotype in Barth syndrome.

OBJECTIVE: Barth syndrome, an X-linked disorder that is characterized by cardiomyopathy, neutropenia, skeletal myopathy, and growth delay, is caused by mutations in the taffazin gene at Xq28 that result in cardiolipin deficiency and abnormal mitochondria. The clinical phenotype in Barth syndrome has not been characterized systematically, and the condition may be underrecognized. We sought to evaluate extent of cardioskeletal myopathy, potential for arrhythmia, delays in growth, and biochemical correlates of disease severity in patients with this disorder. METHODS: We conducted an observational, cross-sectional study of the largest cohort of patients with Barth syndrome to date (n = 34; age range: 1.2-22.6 years). Evaluation included echocardiography, electrocardiography (standard and signal-averaged), microvolt T wave alternans analysis, biochemical and hematologic laboratory analyses, and physical therapy evaluation of skeletal myopathy. RESULTS: Family history was positive for confirmed or suspected Barth syndrome in 63%. Ninety percent of patients had a clinical history of cardiomyopathy (mean age at diagnosis of cardiomyopathy: 5.5 months; at genetic confirmation of Barth syndrome: 4.6 years). Echocardiography revealed a mean ejection fraction of 50% +/- 10%, mean fractional shortening of 28% +/- 5%, and mean left ventricular end-diastolic volume z score of 1.9 +/- 1.8. Left ventricular morphology demonstrated increased trabeculations or true noncompaction in 53%. Of 16 patients who were evaluated at > or = 11 years of age, 7 (43%) had documented ventricular arrhythmia. Growth deficiency was present (mean weight percentile: 15%; mean height percentile: 8%). Laboratory analysis revealed low total white blood cell count (absolute count: < 4000 cells per microL) in 25% of those who were not on granulocyte colony-stimulating factor. Hypocholesterolemia was present in 24%, decreased low-density lipoprotein cholesterol in 56%, low prealbumin in 79%, and mildly elevated creatine kinase in 15%. CONCLUSIONS: Our cohort demonstrated clinical variability, but most had cardiomyopathy and diminished growth velocity, with a propensity toward neutropenia and low cholesterol. There was increased incidence of ventricular arrhythmia, predominantly in adolescents and young adults. Barth syndrome should be considered when boys present with cardiomyopathy, especially when associated with increased left ventricular trabeculations, neutropenia, skeletal muscle weakness, or family history indicating an X-linked pattern of inheritance.

A helpline for patients with chronic dermatological conditions.

A telephone line was set up for patients with chronic dermatological diseases in response to patients' concerns about having a point of contact for advice and for more appropriate and timely access to care when they needed to be seen. The aims were firstly to improve the quality of care and empower patients by providing advice and support with a safety net for those discharged from the authors' service. The second aim was to increase efficiency by reducing unnecessary return appointments. An audit was undertaken to evaluate the telephone service. This showed that patients were reassured that they could access the service according to their needs. There was a high level of satisfaction with the initiative and the advice received. The data also showed that there was a significant improvement in the ratio of new outpatient slots to return appointment slots and waiting times for a first appointment.

In proven deep vein thrombosis, a low positive D-Dimer score is a strong negative predictor for associated malignancy.

D-Dimer measurements are being increasingly used for negative prediction of deep vein thrombosis (DVT). At our institution, clinical score, D-Dimer assay, plethysmography and, if necessary, Doppler ultrasound are used to secure the diagnosis. We collected the data from 100 consecutive patients proven to have DVT. We examined their medical case notes at diagnosis for concurrent clinical conditions and one year later to look for documented evidence of malignancy. Twenty-two of the 66 patients with D-Dimers greater than 1000 ng/ml were diagnosed with a cancer compared with only 2 of the 34 patients with a presenting D-Dimer score of less than 1000 ng/ml. We propose that a D-Dimer score of less than 1000 ng/ml in proven DVT is a strong negative predictor for malignancy (p = 0.0025).

Locomotor training with partial body weight support on a treadmill in a nonambulatory child with spastic tetraplegic cerebral palsy: a case report.

PURPOSE: Recent findings by neuroscientists serve as the basis for a new approach to training stepping after neurologic injury. The purpose of this case report was to describe the outcomes for one child with cerebral palsy after locomotor training. CASE DESCRIPTION: The child was a nine-year-old boy diagnosed with spastic tetraplegic cerebral palsy. He could not support his weight upright against gravity and had never experienced walking. METHODS: Forty-four sessions of locomotor training with partial body weight support (BWS) included static step practice, weight shifting, and walk training on a treadmill. The Gross Motor Function Measure (GMFM) and the Pediatric Evaluation of Disability Inventory (PEDI) were administered prior to and immediately after training. OUTCOMES: The child demonstrated improvements in all domains of the GMFM and both domains of the PEDI. He was able to complete up to 60 independent steps on the treadmill while supported in the BWS harness. Four months after training, he was able to walk over ground short distances with a rolling walker and minimal assistance. DISCUSSION: This case report is the first to report improvement in stepping on a treadmill with carryover to over-ground walking in a nonambulatory child of this age with spastic tetraplegic cerebral palsy.