Teaching and Practicing Caring in the Classroom: Students' Responses to a Self-Awareness Intervention in Psychiatric-Mental Health Nursing.

The purpose of this study was to test the assumption that caring could be taught by nurse educators in the classroom environment and that learning to be self-aware in a mindful state would facilitate students to listen more closely to their inner spirit, which would affect caring behaviors. A convenience sample of 238 students in the Psychiatric-Mental Health Nursing course in a baccalaureate program was obtained from 2007 to 2011. At the beginning of each class and throughout the semester, self-awareness was explained to the students, a reflection statement was read, and students were asked to take two minutes of quiet time, with their eyes closed. At the end of each semester, an author-composed Self-Awareness Questionnaire and Measurement Scale was administered to consenting students to assess whether self-awareness led to caring behaviors. Students' responses were analyzed using descriptive statistics. Findings were positive and supported the assumption that self-awareness and silence positively affected caring behaviors in nursing students in their psychiatric nursing rotation.

Remote ischemic preconditioning prevents deterioration of short-term postoperative cognitive function after cardiac surgery using cardiopulmonary bypass: results of a pilot investigation.

OBJECTIVE: Remote ischemic preconditioning (RIPC) exerts neuroprotective effects in models of cerebral ischemia-reperfusion injury. The authors tested the hypothesis that RIPC decreases the incidence of postoperative delirium and prevents deterioration of short-term postoperative cognitive function in isoflurane-fentanyl-anesthetized patients undergoing cardiac surgery using cardiopulmonary bypass (CPB). DESIGN: Randomized, blinded, single-center pilot investigation. SETTING: Veterans Affairs Medical Center. PARTICIPANTS: Thirty age- and education-matched men≥55 years of age undergoing elective coronary artery or valve surgery using CPB. Fifteen nonsurgical patients also were enrolled. INTERVENTIONS: RIPC was produced after induction of anesthesia using 4 cycles of brief (5 minutes) upper extremity ischemia (tourniquet inflation to 200 mmHg) interspersed with 5-minute periods of reperfusion (tourniquet deflation). MEASUREMENTS AND MAIN RESULTS: The Intensive Care Delirium Screening Checklist was used to assess delirium before and each day after surgery for as many as 5 consecutive days. Recent verbal and nonverbal memory and executive functions were assessed before and 1 week after surgery using a standard neuropsychometric test battery or at 1-week intervals in nonsurgical controls. The Geriatric Depression and the Hachinski Ischemia scales were used to identify the presence of clinical depression and vascular dementia, respectively. No differences in delirium scores were observed between RIPC and control groups (p=0.54). Baseline neurocognitive scores were similar in patients with versus without RIPC in all 3 cognitive domains. Significant declines in performance on 2 nonverbal memory tests (figure reconstruction and delayed figure reproduction; p=0.001 and p=0.003, respectively) and 1 verbal memory test (delayed story recall; p=0.0004) were observed 1 week after surgery in patients who were not treated with RIPC. There were no changes in performance of measures of executive function in this group. In contrast, performance on all cognitive tests was unchanged after compared with before surgery in patients receiving RIPC. At least a 1-standard deviation decline from baseline in cognitive performance was detected in figure reconstruction, delayed figure reproduction, immediate story recall, and delayed story recall in patients who were not exposed to RIPC. The incidence of at least a 1-standard deviation decline in neuropsychometric tests was observed in significantly fewer (1 v 9; p<0.0001) patients with versus without RIPC treatment based on composite Z-scores. Overall cognitive performance after surgery was better in patients treated with versus without RIPC (p=0.002). Clinical depression and vascular dementia were not detected in either group. CONCLUSION: The results of this pilot investigation indicated that RIPC prevented deterioration of short-term postoperative cognitive function but were unable to detect any difference in delirium in isoflurane-fentanyl-anesthetized patients undergoing cardiac surgery using CPB.

Phenocopy behavioral variant frontotemporal dementia: A case study.

Objective: Behavioral variant frontotemporal dementia (bvFTD) is a neurodegenerative condition characterized by progressive changes in behavior, cognition, and day-to-day functioning. Progression of the disease usually leads to death 3-5 years after diagnosis. However, there are reports of individuals who are initially diagnosed with bvFTD but fail to progress. These individuals are thought to have what is becoming known as phenocopy bvFTD (phFTD). Methods: This manuscript reviews a single case study of a 68-year-old male Veteran who was diagnosed with bvFTD in 2010, which has not progressed over time. Results: Review of serial neuropsychological evaluations was broadly normal with mild evidence of executive dysfunction with minimal reliable change in his performances from 2015, 2017, and 2022 evaluations. He also has not developed neuroimaging evidence of FTD. Conclusions: This case illustrates the importance of monitoring individuals over time and incorporating neuroimaging data into the diagnosis. We believe this Veteran's presentation is most consistent with what has been described as phFTD.

Comparison of pre-existing cognitive impairment, amnesic mild cognitive impairment, and multiple domain mild cognitive impairment in men scheduled for coronary artery surgery.

CONTEXT: Preoperative cognitive impairment (PreCI), amnesic mild cognitive impairment (aMCI; a risk factor for Alzheimer's disease) and multiple domain MCI with amnesia (mdMCI+a) identify preoperative cognitive abnormalities in patients scheduled for coronary artery bypass graft surgery (CABG). OBJECTIVES: Preoperative cognitive function is important in determining the incidence and severity of postoperative cognitive dysfunction, but the methods used to measure preoperative cognition are diverse. The incidence of preoperative cognitive abnormalities in cardiac surgical patients is unknown. DESIGN: Observational study. SETTING: Veteran Administration Medical Center in the United States of America. PARTICIPANTS: Elective CABG surgery patients and nonsurgical controls. MAIN OUTCOME MEASURES: Recent verbal and nonverbal memory and executive functions were assessed using psychometric tests. Associations were determined using multivariate regression analysis. We quantified the incidences of PreCI, aMCI and mdMCI+a in patients before elective CABG surgery. RESULTS: Patients (n = 100) scheduled for surgery had lower cognitive scores compared with nonsurgical controls (n = 100) on eight of 10 psychometric tests. Differences between patients and controls were 'large' for the Immediate and Delayed Story Recall tests (Cohen's d; wherein d is defined as a difference between two means divided by the pooled SD for those two means), 'medium' for the Immediate Word List Recall test and 'small' for five other tests. Twenty-five, 20, and 21 patients satisfied the criteria for PreCI, aMCI and mdMCI+a, respectively. Fifteen patients satisfied the criteria for both PreCI and mdMCI+a, whereas only five did so for both PreCI and aMCI. PreCI was not significantly associated with aMCI (P > 0.05), but was significantly associated with mdMCI+a (P < 0.00001). CONCLUSION: PreCI, aMCI and mdMCI+a identified preoperative cognitive abnormalities in different groups of patients scheduled for CABG surgery. The findings emphasise that identification of patients with preoperative cognitive dysfunction is methodology-dependent. The optimal approach to subsequently identify patients who may be at greatest risk of progressive cognitive deterioration after CABG surgery remains to be determined.

Metabolic syndrome exacerbates short-term postoperative cognitive dysfunction in patients undergoing cardiac surgery: results of a pilot study.

OBJECTIVE: The authors tested the hypothesis that patients with metabolic syndrome are more likely to develop short-term cognitive dysfunction after cardiac surgery with cardiopulmonary bypass. DESIGN: A prospective study. SETTING: Veterans Affairs medical center. PARTICIPANTS: Fifty-six age- and education-balanced patients undergoing elective cardiac surgery with cardiopulmonary bypass (28 patients with and without metabolic syndrome in two separate groups) and 28 nonsurgical controls were enrolled. INTERVENTIONS: None. MEASUREMENTS AND MAIN RESULTS: Recent verbal and nonverbal memory and executive functions were assessed using a psychometric test battery before and 1 week after cardiac surgery or at 1-week intervals in nonsurgical controls. Neurocognitive scores under the baseline condition were at least 1 z score (1 standard deviation) worse in surgical patients with compared without metabolic syndrome in all 3 cognitive areas (nonverbal and verbal recent memory and executive functions). Neurocognitive performance further deteriorated after surgery by at least 1 z score on 3 tests in the verbal memory modality (Immediate and Delayed Story Recall and Delayed Word List Recall). Overall cognitive performance (composite z score) after surgery was significantly (p = 0.03) worse in metabolic syndrome patients compared with those who did not have the disorder. CONCLUSIONS: The results indicate that short-term cognitive functions were more profoundly impaired in patients with metabolic syndrome undergoing cardiac surgery with cardiopulmonary bypass compared with their healthier counterparts.

Postoperative delirium and short-term cognitive dysfunction occur more frequently in patients undergoing valve surgery with or without coronary artery bypass graft surgery compared with coronary artery bypass graft surgery alone: results of a pilot study.

OBJECTIVE: The authors tested the hypothesis that patients undergoing valve repair or replacement surgery with or without coronary artery bypass graft (CABG) surgery using cardiopulmonary bypass (CPB) had a greater incidence of postoperative delirium and cognitive dysfunction compared with patients undergoing CABG surgery alone. DESIGN: Prospective study. SETTING: Veterans Affairs medical center. PARTICIPANTS: Forty-four age- and education-balanced male patients (≥ 55 years of age) undergoing elective cardiac surgery with CPB (n = 22 valve ± CABG surgery and n = 22 CABG surgery alone) and nonsurgical controls (n = 22) were recruited. INTERVENTIONS: None. MEASUREMENTS AND MAIN RESULTS: Delirium was assessed with the Intensive Care Delirium Screening Checklist before and for 5 consecutive days after surgery. Recent verbal and nonverbal memory and executive functions were assessed using a psychometric test battery before and 1 week after cardiac surgery or at 1-week intervals in nonsurgical controls. Intensive care unit stay, hospital stay, and 30-day readmission were significantly (p = 0.03, p = 0.01, and p = 0.04, respectively) longer in patients undergoing valve surgery ± CABG surgery versus CABG surgery alone. Postoperative delirium occurred more frequently (p = 0.01) in patients undergoing valve ± CABG surgery versus CABG surgery alone. Overall cognitive performance (composite z score) after surgery also was impaired significantly (p = 0.004) in patients undergoing valve ± CABG surgery compared with CABG surgery alone. The composite z score after surgery decreased by at least 1.5 standard deviations in 11 patients (50%) versus 1 patient (5%) without valve surgery compared with nonsurgical controls (p = 0.001, Fisher's exact test). The presence of delirium predicted a composite z score decrease of 1.2 points (odds ratio = 0.30; 95% confidence interval, 0.13-0.68). CONCLUSIONS: The results indicated that patients undergoing valve surgery with or without CABG surgery have a higher incidence of postoperative delirium and cognitive dysfunction 1 week after surgery compared with those undergoing CABG surgery alone.

Elevated postoperative inflammatory biomarkers are associated with short- and medium-term cognitive dysfunction after coronary artery surgery.

PURPOSE: We tested the hypothesis that elevated postoperative interleukin-6 (IL-6) and C-reactive protein (CRP) concentrations are associated with short- and medium-term impairment of cognitive functions in patients after coronary artery surgery using cardiopulmonary bypass. METHODS: Eighty-six age- and education-balanced patients ≥55 years of age undergoing elective coronary artery bypass surgery with cardiopulmonary bypass and 28 nonsurgical controls with coronary artery disease were enrolled. Recent verbal and nonverbal memory and executive functions were assessed before surgery and at 1 week and 3 months after surgery using a cognitive test battery. IL-6 concentrations were measured before surgery and 4 h after cardiopulmonary bypass, and CRP concentrations were measured before surgery and at 24 and 72 h after anesthetic induction. Overall cognitive function between high and low biomarker concentration groups was analyzed by the Wilcoxon rank-sum test. RESULTS: Recent memory was at least 1 standard deviation (SD) impaired at 1 week and 3 months in the high-CRP compared with low-CRP and in the high-IL-6 compared with low-IL-6 concentration groups. Overall cognitive function was significantly (P = 0.04 and P = 0.01, respectively) different between the high- and low-CRP concentration groups (CRP assayed 24 h after anesthetic induction) at both 1 week and 3 months. Overall cognitive function was also significantly (P = 0.04) different between the high and low-IL-6 concentration groups at 1 week after surgery. CONCLUSION: The results suggest that elevated postoperative IL-6 and CRP concentrations are associated with the subsequent development of short- and medium-term impairment of cognitive functions after coronary artery surgery.

Postoperative cognitive dysfunction after noncardiac surgery: effects of metabolic syndrome.

PURPOSE: Vascular risk factors, including metabolic syndrome, are known to contribute to the development of cognitive dysfunction. We tested the hypothesis that patients with metabolic syndrome are more likely to develop cognitive dysfunction after noncardiac surgery. METHODS: Age- and education-balanced patients (n = 60) undergoing elective noncardiac surgery with and without metabolic syndrome and 30 nonsurgical controls were enrolled. Recent verbal and nonverbal memory and executive functions were assessed using a psychometric test battery before and 1 month after noncardiac surgery or at a 1-month interval in nonsurgical controls. RESULTS: Neurocognitive scores under baseline conditions were similar in surgical patients with versus without metabolic syndrome in all examined cognitive modalities (recent nonverbal and verbal memory, executive functions). Pronounced reductions in tests of verbal memory (delayed story recall, immediate and delayed word list recall) and executive function (backward digit span) were observed in patients with versus without metabolic syndrome after surgery. Overall cognitive performance after surgery was also significantly (P = 0.03) more impaired in patients with versus without metabolic syndrome. The prevalence rate of POCD wasdifferent in the studied groups (17/30 [corrected] and 8/30 in patientswith versus without metabolic syndrome; P < 0.02). CONCLUSIONS: The results indicate that cognitive functions were more profoundly impaired in patients with metabolic syndrome undergoing noncardiac surgery compared with their healthier counterparts.

History of post-traumatic stress disorder is associated with impaired neuropsychometric performance after coronary artery surgery.

OBJECTIVE: To determine if preoperative history of post-traumatic stress disorder (PTSD) is associated with postoperative cognitive impairment. DESIGN: An observational study. SETTING: Veterans Affairs Medical Center. PARTICIPANTS: Cardiac surgical patients. INTERVENTIONS: None. MEASUREMENTS AND MAIN RESULTS: Age- and education-balanced patients (≥55 years of age) undergoing cardiac surgery (n = 30 with a history of PTSD+, n = 56 without a history of PTSD-) and nonsurgical controls (n = 28) were recruited. Recent verbal and nonverbal memory and executive functions were assessed before and 1 week after cardiac surgery or at 1-week intervals in nonsurgical controls. Demographic and medical parameters were similar between groups with the exception of preoperative depression and a history of alcohol dependence. Preoperative depression scores were significantly (p = 0.02) higher in PTSD+ compared with PTSD- groups. Immediate Word List Recall and Delayed Word List Recall under baseline conditions were worse in PTSD+ compared with PTSD- patients. Cognitive performance after surgery decreased by at least 1 standard deviation in 27 PTSD- patients (48%) and in 25 PTSD+ patients (83%) (p = 0.002) versus nonsurgical controls. Multivariate regression analysis (including a history of depression and alcohol dependence) revealed that a history of PTSD was significantly associated with overall (including nonverbal recent memory, verbal recent memory, and executive functions) postoperative cognitive dysfunction (p = 0.005). CONCLUSIONS: The current findings suggest that patients with a history of PTSD undergoing coronary artery surgery using cardiopulmonary bypass may be especially vulnerable to postoperative cognitive impairment.

Preoperative dispositional optimism correlates with a reduced incidence of postoperative delirium and recovery of postoperative cognitive function in cardiac surgical patients.

OBJECTIVE: To determine if preoperative psychosocial factors including dispositional optimism, perceived social support, and perceived stress correlate with the recovery of postoperative cognition. DESIGN: Observational study. SETTING: Veterans Affairs medical center. PARTICIPANTS: Cardiac surgical patients. INTERVENTIONS: None. MEASUREMENTS AND MAIN RESULTS: Age- and education-balanced patients (> or =55 years of age) undergoing cardiac surgery (n = 40) and nonsurgical controls (n = 40) were recruited. A psychosocial evaluation for dispositional optimism, perceived social support, perceived stress, and depression was performed before surgery using standardized questionnaires. Delirium was assessed with the Intensive Care Delirium Screening Checklist before and for 5 consecutive days after surgery. Recent verbal and nonverbal memory and executive functions were assessed before and 1 week after cardiac surgery or at 1-week intervals in nonsurgical controls. Preoperative perceived stress significantly (p < 0.01) correlated with preoperative depression scores. Preoperative dispositional optimism significantly (p < 0.05) correlated with preoperative perceived social support. A multiple logistic regression revealed that dispositional optimism significantly (p < 0.02) predicted the absence of postoperative delirium within 5 days of surgery. Patients who showed high levels of dispositional optimism suffered a significantly (p < 0.03) lower incidence of postoperative delirium. Preoperative dispositional optimism also significantly (p < 0.001) correlated with a postoperative cognitive performance determined by composite z scores. A stepwise multiple regression analysis revealed that dispositional optimism significantly (p < 0.05, R(2) = 35%) predicted postoperative cognitive function. CONCLUSIONS: Preoperative dispositional optimism, but not perceived social support, perceived stress, and depression positively correlated with a reduced incidence of postoperative delirium within 5 days and recovery of cognitive performance 1 week after cardiac surgery.

Ketamine attenuates delirium after cardiac surgery with cardiopulmonary bypass.

OBJECTIVE: To determine if ketamine attenuates postoperative delirium concomitant with an anti-inflammatory effect in patients undergoing cardiac surgery using cardiopulmonary bypass. DESIGN: A prospective randomized study. SETTING: A Veterans Affairs medical center. PARTICIPANTS: Cardiac surgical patients. INTERVENTIONS: Patients at least 55 years of age randomly received placebo (0.9% saline, n = 29) or an intravenous bolus of ketamine (0.5 mg/kg intravenously, n = 29) during anesthetic induction in the presence of fentanyl and etomidate. MEASUREMENTS AND MAIN RESULTS: Delirium was assessed by using the Intensive Care Delirium Screening Checklist before and after surgery. Serum C-reactive protein concentrations were determined before and 1 day after surgery. The incidence of postoperative delirium was lower (p = 0.01, Fisher exact test) in patients receiving ketamine (3%) compared with placebo (31%). Postoperative C-reactive protein concentration was also lower (p < 0.05) in the ketamine-treated patients compared with the placebo-treated patients. The odds of developing postoperative delirium were greater for patients receiving placebo compared with ketamine treatment (odds ratio = 12.6; 95% confidence interval, 1.5-107.5; logistic regression). CONCLUSIONS: After cardiac surgery using cardiopulmonary bypass, ketamine attenuates postoperative delirium concomitant with an anti-inflammatory effect.

Postoperative delirium is associated with postoperative cognitive dysfunction at one week after cardiac surgery with cardiopulmonary bypass.

Postoperative delirium with cognitive impairment frequently occurs after cardiac surgery. It was hypothesized that delirium is associated with residual postoperative cognitive dysfunction in patients after surgery using cardiopulmonary bypass. Male cardiac surgical patients (M age = 66 yr., SD = 8; M education = 13 yr., SD = 2) and nonsurgical controls (M age = 62, SD = 7; M education = 12, SD = 2) 55 years of age or older were balanced on age and education. Delirium was assessed by the Intensive Care Delirium Screening Checklist preoperatively and for up to 5 days postoperatively. Recent verbal and nonverbal memory and executive functions were assessed (as scores on particular tests) before and 1 wk. after surgery. In 56 patients studied (n = 28 Surgery; n = 28 Nonsurgery), nine patients from the Surgery group developed delirium. In the Surgery group, the proportion of patients having postoperative cognitive dysfunction was significantly greater in those who experienced delirium (89%) compared with those who did not (37%). The odds of developing this dysfunction in patients with delirium were 14 times greater than those who did not. Postoperative delirium is associated with scores for residual postoperative cognitive dysfunction 1 wk. after cardiac surgery.

Diffuse lung disease in young children: application of a novel classification scheme.

RATIONALE: Considerable confusion exists regarding nomenclature, classification, and management of pediatric diffuse lung diseases due to the relative rarity and differences in the spectrum of disease between adults and young children. OBJECTIVES: A multidisciplinary working group was formed to: (1) apply consensus terminology and diagnostic criteria for disorders presenting with diffuse lung disease in infancy; and (2) describe the distribution of disease entities, clinical features, and outcome in young children who currently undergo lung biopsy in North America. METHODS: Eleven centers provided pathologic material, clinical data, and imaging from all children less than 2 years of age who underwent lung biopsy for diffuse lung disease from 1999 to 2004. MEASUREMENTS AND MAIN RESULTS: Multidisciplinary review categorized 88% of 187 cases. Disorders more prevalent in infancy, including primary developmental and lung growth abnormalities, neuroendocrine cell hyperplasia of infancy, and surfactant-dysfunction disorders, constituted the majority of cases (60%). Lung growth disorders were often unsuspected clinically and under-recognized histologically. Cases with known surfactant mutations had characteristic pathologic features. Age at biopsy and clinical presentation varied among categories. Pulmonary hypertension, presence of a primary developmental abnormality, or ABCA3 mutation was associated with high mortality, while no deaths occurred in cases of pulmonary interstitial glycogenosis, or neuroendocrine cell hyperplasia of infancy. CONCLUSIONS: This retrospective cohort study identifies a diverse spectrum of lung disorders, largely unique to young children. Application of a classification scheme grouped clinically distinct patients with variable age of biopsy and mortality. Standardized terminology and classification will enhance accurate description and diagnosis of these disorders.

Histologic patterns of thymic involvement in Langerhans cell proliferations: a clinicopathologic study and review of the literature.

Thymic involvement by Langerhans cell histiocytosis (LCH) has been described mainly in isolated case reports. A description of the histopathologic patterns of LCH proliferations in the thymus, together with therapeutic implications, has not, to our knowledge, been previously addressed. The pathology consultation files at Children's Hospital of Pittsburgh of the University of Pennsylvania Medical Center were reviewed for cases of thymic involvement by LCH. Relevant cases in the literature were also reviewed, and the histopathology and clinical course of those cases were collected. Nine consultation cases of thymic involvement were reviewed, together with 23 cases in the literature, which provided adequate pathologic description and ancillary confirmation (n  =  32), revealing 4 distinct pathologic groups. Group 1 showed microscopic collection of hyperplastic LCH-like cells in incidental thymectomies of patients without LCH disease, requiring no further treatment (n  =  7; 22%). Group 2 showed solitary and/or cystic LCH of the thymus with gland disruption, and at least 3 cases resolved without systemic therapy (n  =  10; 31%). Group 3 showed more variable thymic involvement in multisystemic LCH disease, with either a medullary restricted pattern or more diffuse gland involvement, requiring adjuvant therapy and having a higher mortality rate (n  =  13; 41%). Group 4 showed a mixed histiocytic lesion with a concurrent LCH and juvenile xanthogranuloma-like proliferation (n  =  2; 6%). Thymic involvement in LCH is quite rare. Based on our cases and those in the literature, we propose 4 distinct pathologic groups of thymic involvement in Langerhans cell proliferations with relevance for diagnosis and treatment.

Ulcerative Dermatitis in C57BL/6NCrl Mice on a Low-Fat or High-Fat Diet With or Without a Mineralized Red-Algae Supplement.

Ulcerative dermatitis (UD) is a spontaneous idiopathic disease that often affects C57BL/6 mice or mice on a C57BL/6 background. UD is characterized by intense pruritus and lesion formation, most commonly on the head or dorsal thorax. Self-trauma likely contributes to wound severity and delayed wound healing. Histologically, changes are nonspecific, consisting of ulceration with neutrophilic and mastocytic infiltration and epithelial hyperplasia and hyperkeratosis. Diet appears to have a profound effect on the development and progression of UD lesions. We investigated the incidence and severity of UD in C57BL/6NCrl mice on a high-fat western-style diet (HFWD) compared with a standard rodent chow. In addition, we examined the protective effects of dietary supplementation with a multimineral-rich product derived from marine red algae on UD in these 2 diet groups. HFWD-fed mice had an increased incidence of UD. In addition, mice on a HFWD had significantly more severe clinical and histologic lesions. Dietary mineral supplementation in mice on a HFWD decreased the histologic severity of lesions and reduced the incidence of UD in female mice in both diets. In conclusion, a high-fat western-style diet may potentiate UD in C57BL/6NCrl mice. Insufficient mineral supply and mineral imbalance may contribute to disease development. Mineral supplementation may be beneficial in the treatment of UD.

A novel missense mutation in POMT1 modulates the severe congenital muscular dystrophy phenotype associated with POMT1 nonsense mutations.

Mutations in POMT1 lead to a group of neuromuscular conditions ranging in severity from Walker-Warburg syndrome to limb girdle muscular dystrophy. We report two male siblings, ages 19 and 14, and an unrelated 6-year old female with early onset muscular dystrophy and intellectual disability with minimal structural brain anomalies and no ocular abnormalities. Compound heterozygous mutations in POMT1 were identified including a previously reported nonsense mutation (c.2167dupG; p.Asp723Glyfs*8) associated with Walker-Warburg syndrome and a novel missense mutation in a highly conserved region of the protein O-mannosyltransferase 1 protein (c.1958C>T; p.Pro653Leu). This novel variant reduces the phenotypic severity compared to patients with homozygous c.2167dupG mutations or compound heterozygous patients with a c.2167dupG mutation and a wide range of other mutant POMT1 alleles.

Progression of ulcerative dermatitis lesions in C57BL/6Crl mice and the development of a scoring system for dermatitis lesions.

Ulcerative dermatitis (UD) is a common, spontaneous condition in mice with a C57BL/6 background. Although initial lesions may be mild, UD is a progressive disease that often results in ulcerations or debilitating fibrotic contractures. In addition, lesions typically are unresponsive to treatment. Euthanasia is often warranted in severe cases, thereby affecting study outcomes through the loss of research subjects. Because the clinical assessment of UD can be subjective, a quantitative scoring method and documentation of the likely time-frame of progression may be helpful in predicting when animals that develop dermatitis should be removed from a study. Such a system may also be helpful in quantitatively assessing success of various treatment strategies and be valuable to clinical laboratory animal veterinarians. In this 1.5-y, prospective cohort study, we followed 200 mice to monitor the development and course of UD. Mice were examined every 2 wk. A clinical sign (alopecia, pruritus, or peripheral lymphadenopathy) was not identified that predicted development of UD lesions in the subsequent 2-wk period. Once UD developed, pruritus, the character of the lesion (single or multiple crust, coalescing crust, erosion, or ulceration), and the size of the lesion were the only parameters that changed (increased) over the course of the disease. Pruritus was a factor in the rapid progression of UD lesions. We used these findings to develop a quantitative scoring system for the severity of UD. This enhanced understanding of the progression of UD and the quantitative scoring system will enhance the monitoring of UD.