Mutations in SOX2 cause anophthalmia-esophageal-genital (AEG) syndrome

Table 1     

PET measurement of cardiac and nigrostriatal denervation in Parkinsonian syndromes.

Scintigraphic imaging with (123)I-metaiodobenzylguanidine ((123)I-MIBG) has demonstrated extensive losses of cardiac sympathetic neurons in idiopathic Parkinson's disease (IPD). In contrast, normal cardiac innervation has been observed in (123)I-MIBG studies of multiple-system atrophy (MSA) and progressive supranuclear palsy (PSP). Consequently, it has been hypothesized that cardiac denervation can be used to differentiate IPD from MSA and PSP. We sought to test this hypothesis by mapping the distribution of cardiac sympathetic neurons in patients with IPD, MSA, and PSP by using PET and (11)C-meta-hydroxyephedrine ((11)C-HED). Also, the relationship between cardiac denervation and nigrostriatal denervation was investigated by measuring striatal presynaptic monoaminergic nerve density with PET and (11)C-dihydrotetrabenazine ((11)C-DTBZ). METHODS: (11)C-HED and (11)C-DTBZ scans were obtained for patients with IPD (n = 9), MSA (n = 10), and PSP (n = 8) and for age-matched control subjects (n = 10). Global and regional measurements of (11)C-HED retention were obtained to assess the extent of cardiac sympathetic denervation. (11)C-DTBZ binding was measured in the caudate nucleus, anterior putamen, and posterior putamen. RESULTS: As expected, extensive cardiac denervation was observed in several of the patients with IPD. However, substantial cardiac denervation was also seen in some patients with MSA and PSP. (11)C-DTBZ studies demonstrated striatal denervation in all patients with IPD and in most patients with MSA and PSP. No correlation was found between cardiac (11)C-HED retention and striatal (11)C-DTBZ binding. CONCLUSION: Cardiac sympathetic denervation was found to occur not only in IPD but also in other movement disorders, such as MSA and PSP. This finding implies that scintigraphic detection of cardiac sympathetic denervation cannot be used independently to discriminate IPD from other movement disorders, such as MSA and PSP. Cardiac sympathetic denervation was not correlated with striatal denervation, suggesting that the pathophysiologic processes underlying cardiac denervation and striatal denervation occur independently in patients with parkinsonian syndromes. These findings provide novel information about central and peripheral denervation in patients with neurodegenerative disorders.     

Discriminative conditioning-related slow potential and single-unit responses in the frontal cortex of urethane-anesthetized rats

A model is described for obtaining long-term and stable discriminative conditioning-related slow-potential and single-unit responses from the frontal cortex of urethane-anesthetized rats. Responses were recorded and analyzed to reinforced (rewarding medial forebrain bundle stimulation) and non-reinforced tone cues. In the present study, cortical event-related slow potentials provided an adequate index of the level of discriminative conditioning. Single-unit response patterns are described for 57 neurons which demonstrated a discriminative response to either the reinforced or non-reinforced tone cue.     

Pain levels experienced with activities after cardiac surgery.

BACKGROUND: Acute pain is common after cardiac surgery and can keep patients from participating in activities that prevent postoperative complications. Accurate assessment and understanding of pain are vital for providing satisfactory pain control and optimizing recovery. OBJECTIVES: To describe pain levels for 5 activities expected of patients after cardiac surgery on postoperative days 1 to 6 and changes in pain levels after chest tube removal and extubation. METHODS: Adults who underwent cardiac surgery were asked to rate the pain associated with various types of activities on postoperative days 1 to 6. Pain levels were compared by postoperative day, activity, and type of cardiac surgery. Pain scores before and after chest tube removal and extubation also were analyzed. RESULTS: Pain scores were higher on earlier postoperative days. The order of overall pain scores among activities (P < .01) from highest to lowest was coughing, moving or turning in bed, getting up, deep breathing or using the incentive spirometer, and resting. Changes in pain reported with coughing (P = .03) and deep breathing or using the incentive spirometer (P = .005) differed significantly over time between surgery groups. After chest tubes were discontinued, patients had lower pain levels at rest (P = .01), with coughing (P = .05), and when getting up (P = .03). CONCLUSIONS: Pain relief is an important outcome of care. A comprehensive, individualized assessment of pain that incorporates activity levels is necessary to promote satisfactory management of pain.     

Neuropsychological predictors of self-neglect in cognitively impaired older people who live alone.

OBJECTIVE: The authors examined the accuracy of certain neuropsychological tests in the prediction of harm resulting from self-neglect in cognitively impaired seniors who lived alone. METHODS: The study included 130 participants, aged 65 and older, who scored less than 131 on the Dementia Rating Scale. Neuropsychological tests were administered at baseline, resulting in eight predictive scores. Informants and primary care physicians provided information about harm that occurred to the participants during the 18-month prospective follow up. An incident was defined as harmful if it occurred as the result of self-neglect or disorientation and resulted in physical injury or property loss or damage and required emergency interventions. Proportional hazard regression analysis was conducted to examine the predictive relationship between the eight neuropsychological tests and time to incident harm with age, sex, education, the Charlson Comorbidity Index, and the Mini-Mental State Examination included in the model as covariates. RESULTS: Twenty-seven participants experienced harm during the 18-month follow-up period. A proportional hazards model indicated that three neuropsychological tests, which measured recognition memory, executive functioning, and conceptualization, were independent risk factors for harm. CONCLUSIONS: These findings provide insight into why harm occurred in these cognitively impaired elders who lived alone. They also support the ecologic validity of these tests and suggest directions for the development of intervention strategies for harm prevention.     

Challenges that nurses face in caring for morbidly obese patients in the acute care setting.

BACKGROUND: Despite increasing numbers of morbidly obese patients admitted to acute care facilities for surgery or treatment of nonsurgical conditions, there is little evidence of the problems nurses face in providing care to these patients. Anecdotal evidence suggests that the care of these patients is more demanding than the care of nonobese patients. The objective of this study was to describe nurses' perceptions of the challenges that they face when caring for morbidly obese patients. METHODS: Focus groups of nurses from a tertiary care facility were convened. A trained facilitator posed questions to the group concerning various aspects of care for morbidly obese patients. Comments of respondents were categorized using NVIVO software. RESULTS: Nurses reported concerns about the increased staffing needs required for care of these patients and the particular challenges of the physical care. Concerns also included the availability, placement, and use of specialized equipment. Room size and the absence of some equipment were also problematic. Finally, nurses perceived safety issues, both for themselves and their patients. CONCLUSIONS: Morbidly obese patients in the acute care setting require specialized nursing care in terms of techniques, levels of staffing required, and the use of specialized equipment.