Progressive Dysphagia in Joubert Syndrome: A Report of a Rare Case.

Joubert syndrome is an uncommon, autosomal recessive disorder characterized by abnormal brain development involving the underdevelopment or absence of the cerebellar vermis. The classic clinical features include developmental delays, hypotonia, abnormal eye movements, and hyperpnea. On brain magnetic resonance imaging (MRI), an essential finding for the diagnosis of Joubert syndrome is a cerebellar and brainstem malformation called the molar tooth sign, characterized by a hypoplastic cerebellar vermis with dysplasia of the superior cerebellar peduncles. Here, we describe a case of a two-month-old female with an atypical presentation of Joubert syndrome. Her initial clinical presentation included respiratory distress and concerns for reflux complicated with aspiration pneumonia. Early recognition of clinical and radiologic findings for Joubert syndrome enables an early diagnosis, and therefore timely interventions for improving the child's development and quality of life.

Lady With the Blue Hair: An Atypical Cause of Myasthenic Crisis.

A myasthenic crisis denotes a severe exacerbation of myasthenia gravis, leading a patient to enter a life-threatening state due to progressing muscle weakness that ultimately results in respiratory failure. A crisis can require intubation, mechanical ventilation, and additional critical care to prevent further decompensation and potentially death. Numerous well-documented precipitating factors exist, such as infections, surgery, stress, and various medications. We present the case of a 43-year-old woman recently diagnosed with myasthenia gravis who has experienced two myasthenic crises since diagnosis without evident triggers such as surgery, changes in medication, or infection. Following an unremarkable initial diagnostic test and continued treatment for the crisis, we sought additional information from the patient's family member at the bedside. We were informed that two weeks prior to both times of crisis with intubation, the patient had dyed her hair blue. The common chemical component in the two different hair dyes used was methylisothiazolinone, which is suspected to have contributed to the exacerbation of the patient's myasthenia gravis. As more evidence for new precipitating factors of myasthenic crises develops, it is crucial for physicians to quickly identify signs and symptoms of a crisis so appropriate intervention can occur in a time-sensitive manner. In addition, myasthenia gravis patients should be made aware to be cautious of precipitating factors of a crisis, including but not limited to new beauty products.

Rectovaginal Fistula in a 10-Year-Old With Hirschsprung Disease: A Case Report.

Hirschsprung disease is an uncommon medical condition caused by the lack of migration of ganglion cells to the rectum during embryonic development, affecting the peristaltic movements of the intestine. It is a chronic medical condition responsible for chronic constipation and intestinal obstruction. We present the case of a 10-year-old female with a history of Hirschsprung disease and colectomy admitted to a pediatric hospital for the management of multiple colonic ulcers and severe anemia who subsequently developed a rectovaginal fistula. This patient's admission was complicated by perianal and vaginal excoriations, a paralytic ileus, and fecal incontinence. This case report is unique due to the development of a rare pediatric complication of Hirschsprung disease.

Gender Differences in Student Comfort Voluntarily Asking and Answering Questions in Large-Enrollment College Science Courses.

Allowing students to ask and answer questions is a common practice employed by college science instructors. However, recent literature has identified that women participate in whole-class discussions less often than men. One hypothesized reason for this gender gap is that women may be less comfortable participating. However, no studies have examined students' comfort with asking and answering questions in large-enrollment science courses, identified what about these practices might make students uncomfortable, or explored whether there are gender differences with regard to student comfort. To answer these questions, we surveyed 417 undergraduates at an R1 institution about their experiences asking and answering questions in large-enrollment college science courses. Students answered questions about the extent to which they felt comfortable both asking and answering questions and selected possible factors that could make them uncomfortable participating. Using binary logistic regression, we tested whether student demographics predicted their opinions about these practices. Over half of students reported feeling uncomfortable both asking and answering questions in front of college science classes, and women were significantly less comfortable than men both asking and answering questions. Furthermore, we identified student confidence regarding their knowledge of the material and a concern that other students would judge them as some of the primary factors that could cause students to feel uncomfortable asking and answering questions in front of the whole class. This work highlights factors that instructors can target in hopes of maximizing student comfort participating in large-enrollment college science courses.

Call on me! Undergraduates' perceptions of voluntarily asking and answering questions in front of large-enrollment science classes.

Allowing students to voluntarily ask and answer questions in front of the whole class are common teaching practices used in college science courses. However, few studies have examined college science students' perceptions of these practices, the extent to which students choose to engage in these practices, and what discourages students from participating. In this study, we surveyed 417 undergraduates at a research-intensive institution about their experiences asking and answering questions in large-enrollment college science courses. Specifically, students answered questions about to what extent they perceive voluntarily asking and answering questions in large-enrollment science courses is helpful to them and why. They also answered questions about to what extent they engage in asking and answering questions in large-enrollment college science courses and what factors could discourage them from participating. Using binary logistic regression, we examined whether there were differences among students of different demographic groups regarding their opinions about asking and answering questions. We found that overwhelmingly students reported that other students voluntarily asking and answering instructor questions is helpful to them. Notably, compared to continuing generation students, first-generation students were more likely to perceive other students asking questions to be helpful. Despite perceiving asking and answering questions to be helpful, over half of students reported that they never ask or answer questions in large-enrollment college science courses during a semester, and women were more likely than men to report never asking questions. We identified fear of negative evaluation, or students' sense of dread associated with being unfavorably evaluated, as a primary factor influencing their decision to answer instructor questions. This work adds to a growing body of literature on student participation in large-enrollment college science courses and begins to uncover underlying factors influencing student participation.