Analytic validation and clinical utilization of the comprehensive genomic profiling test, GEM ExTra®.

We developed and analytically validated a comprehensive genomic profiling (CGP) assay, GEM ExTra, for patients with advanced solid tumors that uses Next Generation Sequencing (NGS) to characterize whole exomes employing a paired tumor-normal subtraction methodology. The assay detects single nucleotide variants (SNV), indels, focal copy number alterations (CNA), TERT promoter region, as well as tumor mutation burden (TMB) and microsatellite instability (MSI) status. Additionally, the assay incorporates whole transcriptome sequencing of the tumor sample that allows for the detection of gene fusions and select special transcripts, including AR-V7, EGFR vIII, EGFRvIV, and MET exon 14 skipping events. The assay has a mean target coverage of 180X for the normal (germline) and 400X for tumor DNA including enhanced probe design to facilitate the sequencing of difficult regions. Proprietary bioinformatics, paired with comprehensive clinical curation results in reporting that defines clinically actionable, FDA-approved, and clinical trial drug options for the management of the patient's cancer. GEM ExTra demonstrated analytic specificity (PPV) of > 99.9% and analytic sensitivity of 98.8%. Application of GEM ExTra to 1,435 patient samples revealed clinically actionable alterations in 83.9% of reports, including 31 (2.5%) where therapeutic recommendations were based on RNA fusion findings only.

How are children with cerebral palsy managed in public hospitals of KwaZulu-Natal, South Africa?

Background: Medical advances have resulted in the survival of infants who are born prematurely. This makes them at risk of developing neurological manifestations and increases the incidence of children diagnosed with cerebral palsy (CP). Physiotherapy plays an important role in the management of children with CP. However, in KwaZulu-Natal (KZN) there are challenges for rehabilitation of children presenting with CP due to limited equipment, assistive devices and shortage of health care professionals. The aim of this study was to determine the current physiotherapy management for children presenting with CP in public hospitals of KZNMethods: One hundred and fifty-two physiotherapists were recruited using convenience sampling from different levels of public hospitals in KZN. The design was a cross-sectional study using a survey with a self-designed questionnaire to review current physiotherapy management of CP. The data was analyzed and presented by means of descriptive statisticsResults: Seventy-two participants completed the study indicating a 47.4% response rate with an age range of 31 to 40 years. Thirty-five (48.6%) of participants treated one to ten children with CP each month. Twenty-five (34.7%) used outcome measures to evaluate their CP management. This study showed the most common treatment techniques used by physiotherapists were: postural stabilizing activities - 68 (94.4%); respiratory care - 67 (92.9%); and positioning - 67 (92.9%)Conclusion: Despite challenges by physiotherapists in KZN, the overall management of children with CP was holistic and favorable. The most common treatment approach was postural stabilizing activities with children with CP receiving treatment once a month for 30 minutes.

Treatment of Mal de Debarquement Syndrome in a Deployed Environment.

We report the case of a 26-year-old Caucasian female with persistent sensations of forward and reverse movement with spontaneous onset. This worsened over 4 wk. The patient reported an episode of these symptoms 5 mo prior, which lasted for 3 mo before improving. Our case details the treatment of Mal de Debarquement syndrome, or Disembarkment Syndrome, in a deployed military environment. Mal de Debarquement was a term originally coined to describe the persistent sensation of rocking back and forth after disembarking a boat and returning to land. This is normal, and usually only lasts for minutes to hours. When it persists, it is called Mal de Debarquement Syndrome. The onset frequently coincides with travel and most commonly by boat, however it can also occur spontaneously as in this case. Currently, there are three different treatment options. The first involves medications that are often sedating. The second uses magnetic resonance imaging at high frequency to stimulate the areas of the brain thought to be involved. The third option is a form of physical therapy termed re-adaptation of the vestibular ocular reflex. As we were in a deployed military environment the first two options were unsafe and unavailable respectively. We employed an improvised version of re-adaptation of the vestibular ocular reflex. The patient demonstrated a 50% reduction in symptoms following 1 wk of treatment and as a result was safely able to complete her deployment.

Women's responses to postnatal self-report mood and experience measures: does anonymity make a difference?

This study aimed to investigate whether endorsement of "difficulty coping" questions on two self-report measures would be affected by whether or not women had to put their name on the questionnaires. In addition, a small survey of mental health professionals was conducted to see what they thought the study would find. Women (n= 211) attending maternal and child health clinics completed two self-report measures of mood and experience of motherhood. Women were either asked to write their name on the forms and were told that the project officer would check their forms once completed ("named" condition) or asked not to put their name on the forms and that the forms would not be looked at ("anonymous" condition). Perinatal mental health professionals (n= 44) completed an anonymous survey asking them what they considered the study would find. Most health professionals (77.3%) expected that the anonymous condition would result in more "honest" responding by women-that is, there would be a higher rate of women admitting to not coping in the anonymous condition. To the contrary, however, this was not found. There were no differences between the rates of endorsement of "not currently coping" by women in the two conditions, a finding only expected by 13.6% of the professionals. There was a small, but statistically significant, difference in women reporting whether they had a prior history of difficulty coping, with more women in the named condition endorsing this. Rates of postnatal distress or depression, based upon responses to self-report mood or similar questionnaires, are unlikely to be affected by whether participants are required to put their name on the measures or not or whether they anticipate that their responses will be scrutinized. This is an unexpected finding by a sample of mental health professionals interested in the perinatal mental health field, and thus, the study has "new knowledge" significance.