Establishing a natural history of X-linked dystonia parkinsonism.

X-linked dystonia parkinsonism is a neurodegenerative movement disorder that affects men whose mothers originate from the island of Panay, Philippines. Current evidence indicates that the most likely cause is an expansion in the TAF1 gene that may be amenable to treatment. To prepare for clinical trials of therapeutic candidates for X-linked dystonia parkinsonism, we focused on the identification of quantitative phenotypic measures that are most strongly associated with disease progression. Our main objective is to establish a comprehensive, quantitative assessment of movement dysfunction and bulbar motor impairments that are sensitive and specific to disease progression in persons with X-linked dystonia parkinsonism. These measures will set the stage for future treatment trials. We enrolled patients with X-linked dystonia parkinsonism and performed a comprehensive oromotor, speech and neurological assessment. Measurements included patient-reported questionnaires regarding daily living activities and both neurologist-rated movement scales and objective quantitative measures of bulbar function and nutritional status. Patients were followed for 18 months from the date of enrollment and evaluated every 6 months during that period. We analysed a total of 87 men: 29 were gene-positive and had symptoms at enrollment, seven were gene-positive and had no symptoms at enrollment and 51 were gene-negative. We identified measures that displayed a significant change over the study. We used principal variables analysis to identify a minimal battery of 21 measures that explains 67.3% of the variance over the course of the study. These measures included patient-reported, clinician-rated and objective quantitative outcomes that may serve as endpoints in future clinical trials.

Preparing Effective Narrative Evaluations for the Medical School Performance Evaluation (MSPE).

Introduction: In 2016, the AAMC Medical School Performance Evaluation (MSPE) Task Force issued recommendations to standardize the MSPE but did not address the quality of the written narratives in that document. Narrative evaluations are hampered by code words, polite rhetoric, and bias to the detriment of students. To address this, the AAMC's Group on Student Affairs and Group on Educational Affairs convened an expert group to consider the state of narratives in the MSPE and develop resources to improve their quality. Methods: A series of interactive workshops was developed and presented at an AAMC webinar and national meetings. A presentation outlining challenges and possible approaches to improvement was followed with large-group discussion and/or small-group breakout activity to analyze and improve upon sample clinical comments and create summary clerkship paragraphs. The initial webinar used polling questions and free-text prompts to gather feedback for future workshops. Anonymous survey responses were collected at the end of each subsequent workshop to determine perceived effectiveness and potential utility at participants' institutions. Results: Over 680 administrators, faculty, and staff participated in the webinar or in one of four national-level workshops. Respondents agreed that the modules would be useful in faculty development and wanted to replicate their learning at their own institutions for overall better impact on the quality of MSPE narratives. Discussion: This resource addresses an important gap in the medical education literature. A variety of stakeholders affirmed that these workshops have value in training writers to improve their narrative comments for the MSPE.

Early Refill of an Opioid Medication: Recognizing Personal Biases Through Clinical Vignettes and OSCEs.

Introduction: Efforts to improve pain education and knowledge about prescription opioid misuse and opioid/substance use disorder in undergraduate medical education continue to be inadequate. To advance educational practices and address training needs to counter the opioid epidemic, we created a longitudinal pain and addiction curriculum that includes three patient vignettes in which the patient requests an early refill of opioid medication. The goal was to introduce students to the potential impact of personal biases on health care delivery and medical decision-making with patients who have pain and/or substance use disorders. Methods: Three clinical vignettes were presented to early matriculating medical students (MS 1s) using a progressive case disclosure approach in the format of a PowerPoint presentation with embedded audio interactions and follow-up audience response system questions. The same vignettes were converted into OSCEs for early clinical clerkship students (MS 3s). Results: A total of 180 MS 1s participated in the case presentations, and 124 MS 3s participated in the OSCE session. There was a significant difference between students' level of comfort and individual patient requests for early prescription refills in both student cohorts. MS 1s were significantly more likely to provide the early refill to the elderly female patient compared to the two middle-age male patients, whereas a majority of MS 3s wanted more information. Discussion: This module can be presented to medical students who have little clinical exposure and to health care trainees at other levels of clinical exposure.

Impact of Reflection on Empathy and Emotional Intelligence in Third-Year Medical Students.

OBJECTIVE: This study analyzed the impact that structured Reflection Rounds had on self-reported empathy and emotional intelligence scores for third-year medical students. METHODS: Third-year students at the Renaissance School of Medicine at Stony Brook University (RSOM) were required to participate in Reflection Rounds during their core clinical clerkships. Over the study period, 285 students participated. Reflection Rounds are facilitated, small-group meetings, where students reflect upon their thoughts, feelings, and emotions about clinical experiences and receive feedback from peers and a trained facilitator. Empathy and emotional intelligence (EI) scores were measured pre- and post-intervention utilizing the Jefferson scale of empathy (JSE) student version and Wong law emotional intelligence scale (WLEIS) (Hojat 2016; Wong and Law Leadersh Q. 13:243-74, 2004). RESULTS: Participation in the study was voluntary. Pre-intervention surveys were collected from 185 students for the JSE and 173 students for the WLEIS. Post survey responses were collected from 120 students for both scales. Empathy scores increased from 80.4 to 82.6 (p = 0.02) post-intervention. No significant difference in EI scores was demonstrated post-intervention, 5.4 to 5.5 (p = 0.55) CONCLUSION: Students who participated in Reflection Rounds did not demonstrate the erosion of empathy that has been previously documented following the completion of the clerkship year. Improvements in empathy scores were demonstrated. No change in EI was observed post-intervention. It is possible that an intervention such as Reflection Rounds may represent a way of preventing the empathy decline that can be seen in medical students as they progress through their training.

Isolated Cervical Dystonia: Management and Barriers to Care.

Background: Cervical dystonia (CD) is a rare disorder, and health care providers might be unfamiliar with its presentation, thus leading to delay in the initial diagnosis. The lack of awareness displays the need to highlight the clinical features and treatment in cervical dystonia. In our cohort, we have identified an earlier age of onset in men, despite an overall preponderance of affected women. Objective: We aim to identify the prevalence, age of onset, spread, and treatment modalities of CD in the population. We also highlight the barriers which patients encounter related to diagnosis, follow-up, and treatment. Methods: We reviewed 149 CD patients who attended specialized Dystonia Clinics over a 14-year period. Dystonia severity was rated using the Burke-Fahn-Marsden (BFM), Tsui, and Toronto Western Spasmodic Torticollis Rating Scales (TWSTRS). Mood and quality of life were assessed using Beck Depression Inventory (BDI), Beck Anxiety Inventory (BAI), and 36-Item Short Form Health Survey (SF-36). Results: CD patients were majority White (91.3%) and more commonly female (75.8%). Men had an earlier median age of onset, 40.5 years (p = 0.044). BAI revealed a mean score of 7.2 (±6.4, n = 50) indicating minimal anxiety while BDI revealed a mean score of 7.30 (±7.6, n = 50) indicating minimal depression. The only SF-36 subscales associated with CD severity were physical functioning (p = 0.040) pain (p = 0.008) and general health (p = 0.014). Conclusion: There appear to be gender differences in both the prevalence and age of onset of the disease. There was a 3-fold higher incidence in women than in men. CD patients of both sexes experience barriers to care, which can be reflected in their quality of life and time-to-diagnosis. In addition, males were less likely to experience an objective benefit with botulinum toxin treatment and more likely to discontinue care. Greater awareness of CD by health care providers is important to reduce the time-to-diagnosis.

Incidence and prevalence of common respiratory pathogens before and after implementation of the Cystic Fibrosis Foundation Infection Prevention and Control Guideline.

BACKGROUND: The 2013 Cystic Fibrosis Foundation's Infection Prevention and Control Guideline (CFF IP&C) was developed to reduce the risk of acquisition and transmission of respiratory pathogens in patients with cystic fibrosis (CF). OBJECTIVE: We hypothesised that the incidence of common CF respiratory pathogens would decrease at our centre after implementation of the guideline. METHODS: All patients with CF seen at our centre from August 2012 through August 2017 who had respiratory cultures were included. Patients were excluded from incidence analysis if they did not have at least one culture per year. Quarterly data were collected for one year before and three years after implementation of the guidelines to determine the incidence and prevalence of seven organisms commonly found in respiratory cultures of patients with CF. RESULTS: Quarterly and annual incidence and prevalence rates of common organisms did not change during the study period. DISCUSSION: There were no significant differences in the incidence or prevalence of common respiratory organisms in the first three years after implementation of the CF IP&C guideline. Long-term follow-up is needed to determine if changes occur over time.

Apparent Diffusion Coefficient Is a Novel Imaging Biomarker of Myopathic Changes in Liver Cirrhosis.

Diffusion weighted imaging can provide information regarding tissue composition and can quantitatively characterize different pathological changes by means of apparent diffusion coefficient (ADC). The study comprised of 114 patients with liver cirrhosis-22 women and 92 men with a mean age of 56.5 ± 9.0 years. In all patients, the Model for End Stage-Liver Disease (MELD) score was calculated. Furthermore, 12 healthy persons (5 women, 7 men), mean age, 42.1 ± 16.2 years, were investigated as a control group. In all cases, magnetic resonance imaging of the liver/trunk was performed using different 3T scanners and diffusion weighted images were obtained with a multi-shot SE-EPI sequence. In all cases, polygonal regions of interest were manually drawn on the ADC maps along the contours of the iliopsoas and paravertebral muscles. The comparison of ADC values in groups was performed by Mann-Whitney-U tests. The association between ADC and MELD score was calculated by Spearman's rank correlation coefficient. ADC values of the skeletal musculature were statistically much higher in comparison to those in the control group: 1.85 ± 0.46 × 10-3 mm² s-1 vs. 1.23 ± 0.12 × 10-3 mm² s-1, p = 0.001. ADC values showed statistically significant correlation with the MELD score (r = 0.473, p = 0.0001). Furthermore, ADC values differed between the subgroups with different values of the MELD score. ADC values correlated slightly with lactate dehydrogenase (LDH) (r = 0.381, p = 0.0001) and tended to correlate with C-reactive protein (CRP) (r = 0.171, p = 0.07) and alanine aminotransferase (ALAT) (r = -0.167, p = 0.076). ADC can reflect muscle changes in liver cirrhosis and shows statistically significant correlation with the MELD score. Therefore, ADC can be used as an imaging biomarker of myopathic changes in liver cirrhosis.

Diagnostic and therapeutic challenges in managing persistent air leaks.

Persistent air leak (PAL) is a common and challenging condition associated with increased morbidity and mortality, intensive care unit admission, and prolonged hospital stay. Multiple medical and surgical approaches have been developed to manage PAL. Depending on the etiology of PAL, surgical management may be effective and usually performed using video-assisted thoracoscopic surgery (VATS). Medical management is less invasive and consists of pleural or bronchoscopic methods. The non-surgical techniques for the management of PAL have not been investigated in large prospective studies, and so their use is mostly guided by observational data. Specifically, the role of intrabronchial valve (IBV) placement for PAL has been the subject of an ever-increasing number of case reports and series documenting successful deployment of IBVs for both surgical and medical PAL. In this case-based discussion, we describe three patients with non-surgical PAL who were managed using multiple modalities, including both surgical and medical approaches. These cases illustrate the challenges in identifying the location of the air leak and in the application of various therapeutic options.

A pilot study of interprofessional palliative care education of medical students in the UK and USA.

BACKGROUND: Educating medical students to care for patients at the end-of-life is increasingly recognised as an essential component of training. Traditionally, medical student programmes are run by doctors, but patient care is delivered by an interprofessional team. Our programmes in the UK and USA independently developed a teaching experience led by an interprofessional team of palliative care health professionals. OBJECTIVES: This study explores the palliative care health professionals' perceptions, regarding their unique role in medical student palliative care education. METHODS: This is the first study to ascertain views of an interprofessional team delivering palliative care education to medical students. Focus groups enable interaction between members of the group as well as the generation of consensus of comments among group members. RESULTS: Two major themes were identified: perceived benefits and value of the experience, and the challenges and lessons learnt from the experiences. CONCLUSIONS: Despite different structures and settings, this experiential learning in palliative care provided a rewarding interprofessional experience that has historically been difficult to achieve.

Is bronchoscopy an obsolete tool in cystic fibrosis? The role of bronchoscopy in cystic fibrosis and its clinical use.

Cystic fibrosis (CF) is a progressive life threatening multisystem genetic disease which affects the CF transmembrane conductance regulator channel. Respiratory causes remain the most common mortality in CF. With the onset of newborn screening, initiating treatments both for prophylaxis and disease management, optimizing nutritional support, and developing therapies targeting CF transmembrane conductance regulator protein, this has significantly changed the face of managing this devastating disease. Bronchoscopy and related procedures such as bronchoalveolar lavage (BAL), transbronchial biopsies, and protected brush sampling have been looked at in the management of CF as patients with CF continue to live longer with the help of newer therapies, the microbiome in the lung becomes less diverse along with increased occurrences for noninfectious causes of airway diseases. Though bronchoscopy has been used in conjunction with other modalities such as computed tomography and sputum induction providing a better understanding of the progression of the disease, it still remains valuable in the diagnosis and management of CF.

Urine leakage during sexual activity among ethnically diverse, community-dwelling middle-aged and older women.

BACKGROUND: Urinary incontinence is associated with decreased female sexual function, but little is known about the prevalence, predictors, and impact of urine leakage during sexual activity among women in the community. OBJECTIVE: The purpose of this study was to evaluate the prevalence and impact of urine leakage during sex in ethnically diverse, community-dwelling midlife and older women. STUDY DESIGN: Urinary incontinence and sexual function were assessed by structured questionnaire in a multiethnic, community-based cohort of women enrolled in Kaiser Permanente Northern California, an integrated healthcare delivery system in California. All women were aged 40-80 years and sampled from 1 of 4 racial/ethnic groups (20% black, 20% Latina, 20% Asian, and 40% non-Latina white). Differences in frequency, bother, and fear of urine leakage during sexual activity were examined among women with monthly, weekly, and daily urinary incontinence and across different types of urinary incontinence (stress, urgency, mixed, and other type urinary incontinence), with the use of chi-square tests. Independent risk factors for urine leakage during sexual activity were identified through multivariable logistic regression. RESULTS: Of the 509 women who reported being sexually active and having at least monthly urinary incontinence, 127 of them (25%) reported experiencing any urine leakage during sex during the past 3 months. Nineteen percent of the women reported being subjectively bothered by leakage during sex, and 16% of them reported restricting sexual activity because of fear of leakage. Women with more frequent underlying urinary incontinence were more likely to report experiencing or being bothered by leakage during sex and restricting sexual activity because of fear of leakage (P<.001 for all). Participants with predominantly stress or mixed type urinary incontinence were more likely to report experiencing leakage during sex and being subjectively bothered by this leakage (P<.002 for all). Factors independently associated with leakage during sex were depression (odds ratio,1.96; 95% confidence interval, 1.20-3.20), symptomatic pelvic organ prolapse (odds ratio, 2.10; 95% confidence interval, 1.11-3.98), mixed vs urgency type urinary incontinence (odds ratio, 3.16; 95% confidence interval, 1.70-5.88), stress vs urgency type urinary incontinence (odds ratio, 1.94; 95% confidence interval, 1.01-3.70), and frequency of sexual activity (odds ratio, 1.6395% confidence interval, 1.05-2.55), but not age or race/ethnicity. CONCLUSIONS: Up to a quarter of women with at least monthly urinary incontinence in the community may experience urine leakage during sexual activity. Many incontinent women who leak urine during sex remain sexually active, which indicates that the preservation of sexual function should still be a priority in this population. Among incontinent women, depression, pelvic organ prolapse, and stress mixed-type urinary incontinence may be associated with urine leakage during sexual activity.

Sexual Assault Disclosure Recipients' Experiences: Emotional Distress and Changes in the Relationship With the Victim.

Sexual assault victims are more likely to disclose their experience to friends and family than formal support sources (e.g., police, counselors). As such, disclosure receipt is a relatively common occurrence, but little is known about the recipients' disclosure experience. This study examined predictors of recipient emotional distress and positive and negative changes in the victim-recipient relationship postdisclosure among 69 female undergraduates at 3 universities. Predictors of distress included greater self-rated closeness to the victim and greater confusion about how to help. Positive changes were predicted by greater closeness and less responsibility attributed to the victim, and negative changes were predicted by less closeness, greater assigned responsibility, and greater perceived ineffectiveness of one's help. Implications for improving the disclosure experience via psychoeducational interventions are presented.

Impact of a Home Hospice Visit Program on Third-Year Medical Students: A qualitative analysis of student reflections.

AIM: This study evaluates the impact of an interprofessional home hospice visit (HHV) on third-year medical students' attitudes toward, and understanding of, end-of-life care and the visit's effect on students' views of their emerging professional roles and identities. METHODS: All third-year medical students at Stony Brook School of Medicine in Stony Brook, New York, USA, participated in an HHV. A didactic session preceded the HHV. Subsequently, students were required to submit a piece of reflective writing detailing the impact of the visit. We conducted a qualitative analysis of a random sample drawn from the 467 submitted reflections. RESULTS: Six themes emerged from the student reflections: three were related to the students' direct observations during the HHV, and three were related to the reflective learning of the students based on their HHV experience. CONCLUSION: The qualitative analysis of the reflective writings showed that the students gained a deep appreciation of the human identity of hospice patients and a humanistic understanding of their own role as future physicians.

Stress reactivity to an electronic version of the Trier Social Stress Test: a pilot study.

Social stressors that rely on the inclusion of confederates (i.e., Trier Social Stress Test, TSST) are often used in clinical laboratory research paradigms to elicit a measurable stress response in participants. Although effective, the TSST is labor intensive and may introduce error variance as a function of confederate race, gender, and/or response characteristics. The present study aimed to develop and validate an electronic version of the TSST (e-TSST). The primary aim was to compare the e-TSST to an e-neutral control condition; the exploratory aim was to compare the magnitude of stress response elicited by the e-TSST to that elicited by the traditional TSST. Forty-three healthy adults were randomized to the e-TSST or e-neutral condition. Subjective (participant-rated distress) and objective [cortisol, heart rate (HR), and blood pressure] indices of stress were collected prior to, and multiple times following, the stressor. Using archival data collected from 19 healthy participants exposed to the traditional TSST in a prior study, stress reactivity was compared between the electronic and traditional versions of the TSST. The e-TSST elicited significant increases in all measures of stress reactivity compared to the e-neutral condition, with the exception of HR. Results showed that the magnitude of subjective distress, BP, and HR responses elicited by the e-TSST did not differ significantly from that elicited by the traditional TSST. The traditional TSST elicited significantly higher cortisol than the e-TSST. Although these findings provide initial support for the development of electronic versions of the TSST, further refinement of the e-TSST is warranted prior to broad adoption of this technology. A refined, reliable e-TSST could allow for increased utilization of the TSST by enhancing convenience, reducing labor costs, and limiting potential error variance introduced by human confederates.

Mental Health Among Adolescents Exposed to a Tornado: The Influence of Social Support and Its Interactions With Sociodemographic Characteristics and Disaster Exposure.

Approximately 25% of youths experience a natural disaster and many experience disaster-related distress, including symptoms of posttraumatic stress disorder (PTSD) and depression. This study contributes to the literature by examining PTSD and depressive symptoms among 2,000 adolescents (50.9% female, 70.5% White) assessed after exposure to tornadoes in 2011. The authors hypothesized that greater tornado exposure, female sex, and younger age would be associated with distress, and that social support would interact with these associations. Analyses showed that PTSD symptoms were associated with lower levels of social support (ß = -.28, p < .001), greater tornado exposure (ß = .14, p < .001), lower household income (ß = -.06, p = .013, female sex (ß = -.10, p < .001), and older age (ß = .07, p = .002), with a 3-way interaction between tornado exposure, sex, and social support (ß = -.06, p = .017). For boys, the influence of tornado exposure on PTSD symptoms increased as social support decreased. Regardless of level of tornado exposure, low social support was related to PTSD symptoms for girls; depressive symptom results were similar. These findings were generally consistent with the literature and provide guidance for intervention development focused on strengthening social support at the individual, family, and community levels.

Efficacy and adverse effects of drugs used to treat adult cystic fibrosis.

INTRODUCTION: Cystic fibrosis (CF) is an autosomal recessive disease and is the most commonly seen monogenetic disease in Caucasians. The disease has various manifestations resulting from the abnormal thick secretions, most common being chronic lung infection and airway obstruction. Many new promising drugs have appeared on the horizon over the years. This review here is an attempt to bring together the various treatments being used to prolong and enhance the quality of life of CF patients. AREAS COVERED: A literature review of published as well as ongoing clinical trials, meta-analysis and systematic reviews regarding the drugs used in CF management was carried out using PubMed and Ovid databases. EXPERT OPINION: New concepts have been formed and some positive results in this direction have already led to the approval of cystic fibrosis transmembrane conductance regulator potentiator drug. Gene therapy and stem cell therapy are under development. The current therapies such as dornase alfa and pancreatic enzymes targeting the symptoms continue to evolve as they play an important complementary role. Development of new simple and cost-effective markers, which help assess the efficacy and safety of these constantly emerging new drugs, is also being investigated.