Juvenile-Onset Huntington's Disease in Peru: A Case Series of 32 Patients.

Background: Juvenile-onset Huntington's Disease (JoHD) or Huntington's disease (HD) with age of onset ≤20 years, is a rare clinical entity that often differs phenotypically from adult HD and represents only 1-15% of total HD cases. Objective: To characterize the genetic and clinical characteristics of 32 JoHD patients seen in a Peruvian Neurogenetics clinic from 2000-2018. Methods: This study is a retrospective clinical and genetic review. The clinical database in Lima, Peru was searched for HD patients seen in clinic between 2000 and 2018. Inclusion criteria were: (1) genetically confirmed disease; and (2) HD age of onset ≤20 years, according to the documented medical history. Results: Among 475 patients with genetically confirmed HD in the database, 32 patients (6.7%) had symptom onset at ≤20 years. Among JoHD patients with a known transmitting parent (30 of 32), paternal transmission accounted for 77% of cases. Anticipation was higher with paternal transmission compared to maternal transmission (27.5 ± 11.5 vs. 11.3 ± 7.1 years). Overall expanded CAG repeat length ranged from 44 to 110, with a mean length of 65.6 ± 15.4, and 14 (44%) cases had repeat length under 60. Of the 32 patients included in the study, 25 had detailed clinical symptomatology available, and many patients had unique clinical features such as prominent sleep disturbance (60% of patients), or parkinsonism (73%). Conclusions: This large case series of JoHD patients characterizes the Peruvian JoHD population, reports on unique familial relationships in JoHD, and highlights the varied symptomatic presentation of this rare disease.

On the arts and humanities in medical education.

This paper aims to position the birth of the Medical Humanities movement in a greater historical context of twentieth century American medical education and to paint a picture of the current landscape of the Medical Humanities in medical training. It first sheds light on the model of medical education put forth by Abraham Flexner through the publishing of the 1910 Flexner Report, which set the stage for defining physicians as experimentalists and rooting the profession in research institutions. While this paved the way for medical advancements, it came at the cost of producing a patriarchal approach to medical practice. By the late 1960s, the public persona of the profession was thus devoid of humanism. This catalyzed the birth of the Medical Humanities movement that helped lay the framework for what has perpetuated as the ongoing incorporation of humanistic subjects into medical training. As we enter a time in medicine in which rates of burnout are ever-increasing and there are growing concerns about a concomitant reduction in empathy among trainees, the need for instilling humanism remains important. We must consequently continue to consider how to ensure the place of the Medical Humanities in medical education moving forward.

Women on the Frontline: A Changed Workforce and the Fight Against COVID-19.

COVID-19 is a worldwide pandemic, with frontlines that look drastically different than in past conflicts: that is, women now make up a sizeable majority of the health care workforce. American women have a long history of helping in times of hardship, filling positions on the home front vacated by men who enlisted as soldiers during World War I and similarly serving in crucial roles on U.S. military bases, on farms, and in factories during World War II. The COVID-19 pandemic has represented a novel battleground, as the first in which women have taken center stage, not only in their roles as physicians, respiratory therapists, nurses, and the like, but also by serving in leadership positions and facilitating innovations in science, technology, and policy. Yet, the pandemic has exacerbated multiple pain points that have disproportionally impacted women in health care, including shortages in correctly sized personal protective equipment and uniforms, inadequate support for pregnant and breastfeeding providers, and challenges associated with work-life balance and obtaining childcare. While the pandemic has facilitated several positive advancements in addressing these challenges, there is still much work to be done for women to achieve equity and optimal support in their roles on the frontlines.

MRSA septic pulmonary emboli presenting as isolated focal chest pain in an adolescent.

This case demonstrates the importance of considering septic pulmonary embolism (SPE) on the differential for chest pain in the pediatric population, especially in patients with a history of skin and soft tissue infection. The adolescent patient in this report, with a history of axillary hidradenitis suppurativa complicated by methicillin-resistant Staphylococcus aureus (MRSA) superinfection and recent completion of a 3-month course of doxycycline, presented with isolated focal chest pain in the absence of other infectious or respiratory signs or symptoms. Initial pulmonary imaging revealed multiple bilateral wedge-shaped nodules. Three specialty teams were consulted in the patient's evaluation, resulting in biopsy of a suspicious lesion that confirmed the diagnosis of MRSA SPE. Following a course of targeted antibiotic therapy, the patient's chest pain resolved and imaging findings improved. Insights gleaned from the workup of this patient are useful in formulating a framework for recognition of SPE in children presenting with chest pain, and also highlight the importance of considering insidious SPE presentation in the setting of antibiotic pretreatment.

Economic burden of Huntington's disease in Peru.

BACKGROUND: Huntington's disease (HD) is a devastating and fatal neurodegenerative disorder that leads to progressive disability, and over time to total dependence. The economic impact of HD on patients living in developing countries like Peru is still unknown. This study aims to estimate the economic burden by estimating direct and indirect costs of Huntington's disease in Peru, as well as the proportion of direct costs borne by patients and their families. METHODS: Disease-cost cross-sectional study where 97 participants and their primary caregivers were interviewed using a common questionnaire. Prevalence and human capital approaches were used to estimate direct and indirect costs, respectively. RESULTS: The average annual cost of HD reached USD 8120 per patient in 2015. Direct non-healthcare costs represented 78.3% of total cost, indirect costs 14.4% and direct healthcare costs the remaining 7.3%. The mean cost of HD increased with the degree of patient dependency: from USD 6572 for Barthel 4 & 5 (slight dependency and total independency, respectively) to USD 23,251 for Barthel 1 (total dependency). Direct costs were primarily financed by patients and their families. CONCLUSIONS: The estimated annual cost of HD for Peruvian society reached USD 1.2 million in 2015. The cost impact of HD on patients and their families is very high, becoming catastrophic for most dependent patients, and thus making it essential to prioritize full coverage by the State.

The intergenerational effects of early adversity.

Early insults during critical periods of brain development, both prenatal and postnatal, can result in epigenetic changes that may impact health and behavioral outcomes over the life span and into future generations. There is ample evidence that these early stages of brain development are sensitive to various environmental insults, including malnutrition, childhood trauma, and drug exposures. The notion that such changes, both physiological and behavioral, can also carry over into subsequent generations has long been recognized, especially in the context of experimental studies. However, epigenetic mechanisms capable of explaining such phenomena were not available until relatively recently, with most of this research published only within the last decade.