Aromatic L-Amino acid decarboxylase deficiency: A new case from Turkey with a novel mutation

Aromatic L-amino acid decarboxylase (AADC), a vitamin B6-requiring enzyme that converts L-dopa to dopamine and 5-hydroxytryptophan to serotonin. Deficiency of this enzyme results in developmental delay, muscular hypotonia, dystonia, involuntary movements, autonomic dysfunction, and oculogyric crises. We now report a 2-year-old Turkish boy with AADC deficiency confirmed by greatly reduced AADC activity in the plasma and by genetic studies. Mutation analysis revealed a homozygous mutation c.208C > T (p. His70Tyr) in exon 3 of the AADC gene which has not been described to date.     

“中气不足,溲便为之变”在肾系疾病中的应用

“中气不足,溲便为之变”这一理论在治疗肾系疾病中具有很大的指导意义,本文通过医案举例、分析,强调“中气不足,溲便为之变”这一理论在实际指导临床中的重大意义,强调该理论在病因分析、疾病治疗方面取得的良好效果,理论指导临床,为治疗疾病,研究病因,开阔了思路。     

Integrating public health students into interprofessional education

ABSTRACT

Recognizing the public health professional are critical members of interprofessional teams, the Council on Education for Public Health (CEPH) recently added a required Masters of Public Health (MPH) student competency focused on interprofessional education (IPE). A student-centered approach to the design and evaluation of an emergency preparedness-focused curricular program to meet the interprofessional needs of MPH students was used to meet this expectation at the University of Washington. Curriculum design was informed by two 80-minute listening sessions with MPH students to better understand their current interprofessional educational experiences and needs, and how an emergency preparedness-focused two-hour Interprofessional Active Learning Series (iPALS) session could help them develop interprofessional competency. The resultant iPALS session was assessed with a short, paper-based questionnaire. We found MPH students have an interest in participating in IPE, and that all students who participated in the emergency preparedness-focused iPALS session reported significant increases in their interprofessional and disaster response abilities based on their pre- and post-session evaluations. Student-centered IPE curriculum focused on emergency preparedness can enhance the self-reported ability of students across the health sciences to perform on interprofessional teams while engaging in a topic that has relevance to MPH students.     

The effect of drama-based group therapy on aspects of mental illness stigma

This study examined the effect of drama-based group therapy on the self-esteem and self-stigma of five participants with mental illness and on the public stigma of seven university students without mental illness who participated in the same group. ABA single-case experimental design was utilized to systematically assess change across 14 time points. We used visual analysis to inspect change as well as hierarchical linear modeling that allows the aggregation of single-case results to the population level. To study the effect of the treatment, contrasts were examined, comparing scores at baseline, treatment, and follow-up. The findings for all measures indicated a significant difference between scores in the baseline phase compared with scores in both the intervention and the follow-up phases. Significant differences were not detected between scores in the intervention phase and the follow-up phase. Interpretations of findings are provided, followed by a discussion of possible change processes, limitations, and future directions.     

“Gliomatosis encephali” as a novel category of brain tumors by the first autopsy case report of gliomatosis cerebelli

Gliomatosis cerebri is a rare diffuse glioma that is neither mass‐forming nor necrotic, and does not disrupt existing structures. Gliomatosis occurring in the cerebellum is known as gliomatosis cerebelli, and only three such cases examined by biopsy have been reported. Here we describe the first autopsy findings of a patient who was diagnosed as having gliomatosis in the cerebellum. Neuropathological examination identified the tumor cells as being positive for glial fibrillary acidic protein, vimentin and nestin, with atypical nuclei that were cashew‐nut‐ or dishcloth‐gourd‐shaped. These tumor cells were dense in the right cerebellum, but also spread broadly throughout the brain including the left cerebrum and optic nerve. Mitotic figures were frequently seen in the cerebellum, brain stem and cerebrum. Scherer's secondary structures were evident not only in the cerebellum but also the cerebrum. No necrosis, microvascular proliferation or destruction of anatomical structures was detected in the whole brain. Differences in the origin of the tumors of the gliomatoses cerbri and cerebelli suggests these tumors are different types of brain tumors. Thus the findings support that the gliomatosis cerebelli is a novel type of brain tumor classification. Furthermore, by the similarities of the histological features among the tumors, it appears appropriate to establish a novel category of “gliomatosis encephali” which includes both gliomatosis cerebri and gliomatosis cerebelli.     

Fewer intensive care unit refusals and a higher capacity utilization by using a cyclic surgical case schedule

PURPOSE: Mounting health care costs force hospital managers to maximize utilization of scarce resources and simultaneously improve access to hospital services. This article assesses the benefits of a cyclic case scheduling approach that exploits a master surgical schedule (MSS). An MSS maximizes operating room (OR) capacity and simultaneously levels the outflow of patients toward the intensive care unit (ICU) to reduce surgery cancellation. MATERIALS AND METHODS: Relevant data for Erasmus MC have been electronically collected since 1994. These data are used to construct an MSS that consisted of a set of surgical case types scheduled for a period or cycle. This cycle was executed repetitively. During such a cycle, surgical cases for each surgical department were scheduled on a specific day and OR. The experiments were performed for the Erasmus University Medical Center and for a virtual hospital. RESULTS: Unused OR capacity can be reduced by up to 6.3% for a cycle length of 4 weeks, with simultaneous optimal leveling of the ICU workload. CONCLUSIONS: Our findings show that the proposed cyclic OR planning policy may benefit OR utilization and reduce surgical case cancellation and peak demands on the ICU.     

Arts-based social skills interventions for adolescents with acquired brain injuries: Five case reports

Objective: Previous research has demonstrated the value of arts-based programs for adolescents with childhood brain disorder to facilitate social skills and participation. The current study extends this work by examining the feasibility and effectiveness of an arts-based intervention for youth with acquired brain injuries (ABI).

Methods: A case study approach was used with four adolescent participants and one case control. A battery of quantitative measures were administered four and one week pre-intervention, one week post-intervention, as well six to eight month post-intervention.

Results: Improvements in pragmatic communication skills and social and participation goals were observed across intervention participants. Similar improvements were not seen with the case control participant.

Conclusion: Results support the use of an arts-based intervention for youth with ABI to facilitate social skills and participation. Findings also highlight the need for more sensitive measures of these skills for these youth. Suggested guidelines for program implementation are provided.     

Epidemiology of treatment-associated mucosal injury after treatment with newer regimens for lymphoma, breast, lung, or colorectal cancer

Goals of work: Oral and gastrointestinal (GI) mucositis are frequent complications of chemotherapy and radiotherapy for cancer, contributing to not only the morbidity of treatment but its cost as well. The risk associated with specific chemotherapeutic agents, alone and in combination, has been characterized previously. In the current study, we sought to estimate the risk associated with newer regimens for the treatment of non-Hodgkin’s lymphoma (NHL) and common solid tumors. Methods: We reviewed published studies reporting phase II and III clinical trials of dose-dense regimens for breast cancer and NHL, TAC (docetaxel, adriamycin, cyclophosphamide) chemotherapy for breast cancer, and infusional 5-fluorouracil-based regimens for colorectal cancer. Platinum-, gemcitabine-, and taxane-based regimens for lung cancer, either alone or in combination with radiotherapy, were also considered. Using modified meta-analysis methods, we calculated quality-adjusted estimates of the risk for oral and GI mucositis by tumor type and regimen. Case reports are used to emphasize the relevance of the findings for patient care. Main results: Our findings demonstrate that mucosal toxicity remains an important complication of cancer treatment. Moreover, innovations in drug combinations, scheduling, or mode of administration significantly modulate the risk for both oral and GI mucositis. Conclusions: Ongoing review of the clinical trial experience will remain important as newer, targeted agents enter standard clinical practice.