Parkinsonism as an unusual presenting symptom of pineal gland teratoma

We report a case of a 14-year-old Chinese boy with immature teratoma of the pineal gland who manifested with parkinsonism. Diagnostic evaluation revealed hydrocephalus and an immature teratoma of the pineal gland extending to the thalamus. An urgent ventriculoperitoneal shunt was inserted, and chemotherapy was given to reduce the tumor size. The tumor was completely excised 2 months after diagnosis with improvement of clinical signs and symptoms. His symptoms recurred 3 months later with sudden onset of obtundation, tremors, cogwheel rigidity, and marked bradykinesia. Magnetic resonance imaging (MRI) revealed a small enhancing lesion in the pineal region and progressive hydrocephalus on serial studies. He was treated with carbidopa/levodopa and amantadine, but marked improvement was only observed after reprogramming his VP shunt. Features consistent with the growing teratoma syndrome were noted during this period. These were progressive pineal gland tumor enlargement documented on MRI without increase in previously elevated alpha-fetoprotein levels. The tumor continued to enlarge despite gamma knife radiosurgery. Secondary parkinsonism is a rare presentation of pineal gland tumors and has not been reported in association with the growing teratoma syndrome.     

An interfaculty pain curriculum: lessons learned from six years experience

Minimal pain content has been documented in pre-licensure curricula and students lack important pain knowledge at graduation. To address this problem, we have implemented and evaluated a mandatory Interfaculty Pain Curriculum (IPC) yearly since 2002 for students (N=817 in 2007) from six Health Science Faculties/Departments. The 20-h pain curriculum continues to involve students from Dentistry, Medicine, Nursing, Pharmacy, Physical Therapy, and Occupational Therapy as part of their 2nd or 3rd year program. Evaluation methods based on Kirkpatrick's model now include evaluation of a Comprehensive Pain Management Plan along with the previously used Pain Knowledge and Beliefs Questionnaire (PKPQ) and Daily Content and Process Questionnaires (DCPQ). Important lessons have been learned and subsequent changes made in this iterative curriculum design based on extensive evaluation over the 6-year period. Modifications have included case development more relevant to the diverse student groups, learning contexts that are uni-, inter-, and multi-professional, and facilitator development in working with interprofessional student groups. PKBQ scores have improved in all years with a statistically significant average change on correct responses from 14% to 17%. The DCPQ responses have also indicated consistently that most students (85-95%) rated highly the patient panel, expert-lead clinically focused sessions, and small interprofessional groups. Relevancy and organization of the information presented have been generally rated highly from 80.3% to 91.2%. This curriculum continues to be a unique and valuable learning opportunity as we utilize lessons learned from extensive evaluation to move the pain agenda forward with pre-licensure health science students.     

A new pathogenic mutation in the APP gene (I716V) increases the relative proportion of A beta 42(43)

We report a novel mutation in the amyloid precursor protein gene (APP I716V) which probably leads to familial early onset Alzheimer's disease with an onset age in the mid 50s. Cells transfected with cDNAs bearing this mutation produce more A beta 1-42(43) than those transfected with wild-type APP and this effect is additive with that of the previously reported APP V717I mutation thus providing a novel approach for further increasing A beta 1-42(43) in model systems.      

Seven different glucose-6-phosphate dehydrogenase variants including a new variant distributed in Lam Dong Province in southern Vietnam

We conducted a survey for glucose-6-phosphate dehydrogenase (G6PD) deficiency using blood samples from male outpatients of a local hospital in southern Vietnam. Most of the samples were from the Kinh (88.9%), the largest ethnic group in Vietnam, with a small number (11.1%) coming from the K'Ho, Chauma, Nung, and Tay minorities. We detected 25 G6PD-deficient cases among 1,104 samples (2.3%), and read the open reading frame of G6PD. A novel mutation (352T>C) predicting an aminoacid change of 118Tyr>His was found in a 1-year-old Kinh boy. His G6PD activity was estimated to be less than 10% residual activity, although he did not show chronic hemolytic anemia. Thus, we categorized this variant as Class II and named it G6PD Bao Loc. In the Kinh population, G6PD Viangchan (871G>A, 1311C>T, intron 11 nt93T>C), one of the most common variants in continental Southeast Asian populations, was the highest (6/19), followed by variants originating from the Chinese such as G6PD Canton (1376G>T) (5/19), G6PD Kaiping (1388G>A) (3/19), G6PD Gaohe (95A>G) (1/19), and G6PD Quing Yuan (392G>T) (1/19). In addition, G6PD Union (1360C>T) (2/19), which originated from the Oceania, was also detected. These findings suggest that the Kinh people are derived from various ancestries from continental Southeast Asia, China, and Oceania. In contrast, all of the 5 deficient cases in the K'Ho population were G6PD Viangchan, suggesting that they were very close to Southeast Asian populations such as the Khmer in Cambodia and the Lao in Laos. It is interesting that G6PD Mahidol (487G>A), another common variant in continental Southeast Asian populations in Myanmar, Thailand, and Malaysia, has not been detected from the Vietnamese.     

Differentiation and transplantation of functional pancreatic Beta cells generated from induced pluripotent stem cells derived from a type 1 diabetes mouse model

The nonobese diabetic (NOD) mouse is a classical animal model for autoimmune type 1 diabetes (T1D), closely mimicking features of human T1D. Thus, the NOD mouse presents an opportunity to test the effectiveness of induced pluripotent stem cells (iPSCs) as a therapeutic modality for T1D. Here, we demonstrate a proof of concept for cellular therapy using NOD mouse-derived iPSCs (NOD-iPSCs). We generated iPSCs from NOD mouse embryonic fibroblasts or NOD mouse pancreas-derived epithelial cells (NPEs), and applied directed differentiation protocols to differentiate the NOD-iPSCs toward functional pancreatic beta cells. Finally, we investigated whether the NPE-iPSC-derived insulin-producing cells could normalize hyperglycemia in transplanted diabetic mice. The NOD-iPSCs showed typical embryonic stem cell-like characteristics such as expression of markers for pluripotency, in vitro differentiation, teratoma formation, and generation of chimeric mice. We developed a method for stepwise differentiation of NOD-iPSCs into insulin-producing cells, and found that NPE-iPSCs differentiate more readily into insulin-producing cells. The differentiated NPE-iPSCs expressed diverse pancreatic beta cell markers and released insulin in response to glucose and KCl stimulation. Transplantation of the differentiated NPE-iPSCs into diabetic mice resulted in kidney engraftment. The engrafted cells responded to glucose by secreting insulin, thereby normalizing blood glucose levels. We propose that NOD-iPSCs will provide a useful tool for investigating genetic susceptibility to autoimmune diseases and generating a cellular interaction model of T1D, paving the way for the potential application of patient-derived iPSCs in autologous beta cell transplantation for treating diabetes.     

Incorporating Antiracism Coursework into a Cultural Competency Curriculum

Creating a socially conscious educational environment is an imperative if health care practitioners are to have a significant impact on health inequities. The effects of practitioner bias, prejudice, and discrimination on health and health outcomes have been well documented in the literature. Individuals being trained to provide health care will be entering into an increasingly diverse world and must be equipped with the appropriate knowledge and skills in order to meet the needs of those seeking their care. Cultural competency training in medical education has evolved over the past 15 years since the Institute of Medicine's 2002 report, Unequal Treatment: Confronting Racial and Ethnic Disparities in Health Care. As research on the effectiveness of this training has emerged, several authors have called for the integration of antiracism training into the cultural competency curriculum, but few have found effective ways of doing so. This article describes the approach of one midwifery program in order to inform clinical education programs across the spectrum of health care practitioners.