NAT gene polymorphisms and susceptibility to Alzheimer's disease: identification of a novel NAT1 allelic variant

Background

Clefts of the lip, alveolus, and palate (CLPs) rank among the most frequent and significant congenital malformations. Leu10Pro and Arg25Pro polymorphisms in the precursor region and Thr263Ile polymorphism in the prodomain of the transforming growth factor β1 (TGF-β1) gene have proved to be crucial to predisposition of several disorders.

Methods

In this study, polymorphism analysis was performed by real-time polymerase chain reaction (LightCycler) and TGF-β1 levels determined by enzyme-linked immunosorbent assay.

Results

Only 2/60 Caucasian non-syndromic patients with CLP (3.3%) carried the Arg25Pro and another 2/60 patients (3.3%) the Thr263Ile genotypes, whereas, in a control group of 60 healthy Caucasian blood donors, these heterozygous genotypes were more frequent 16.7% having Arg25Pro (10/60; p < 0.035) and 10,0% having Thr263Ile (6/60), respectively. TGF-β1 levels in platelet-poor plasma of heterozygous Arg25Pro individuals were lower than those of homozygous members (Arg25Arg) in the latter group, but this discrepancy narrowly failed to be significant. Although polymorphisms in codon 10 and 25 were associated with each other, no difference was found between patients and controls concerning the Leu10Pro polymorphism.

Conclusions

The genetic differences in codons 25 and 263 suggest that TGF-β1 could play an important role in occurrence of CLP, however, functional experiments will be required to confirm the mechanisms of disturbed development.     

Patient care advisers: helping cardiac surgery patients to exercise choice

Cardiac surgical centres have received funds to appoint at least one patient care adviser as part of the Government's Patient Choice Initiative. Mostly from a nursing background, their role is to ensure patients who have been waiting more than six months have the choice of receiving surgery sooner at another centre. This paper describes this national initiative.     

Twelve-hour shift on ITU: a nursing evaluation

This paper describes the introduction and subsequent evaluation of a 12-h shift system in a large ITU in the northeast of UK. To date, only a small number of studies has evaluated nurses working the 12-h shifts in critical care areas. To evaluate the level of staff satisfaction, data were collected by means of a questionnaire involving 41 nurses, at 3 months following the introduction of the 12-h shifts. The responses from the evaluation advocated the continuation of 12-h shifts with alternative shift patterns for nurses who felt dissatisfied with the current system. Twelve-hour shifts can be seen as a flexible system for nurses working in intensive care and may assist with staff satisfaction and improving nurse recruitment and retention.     

Travel advice for clients with pre-existing medical conditions

Overseas travel, especially long-haul, can have risks that are not only associated with infection but also the mode of transport, climate, lifestyle and conditions at the destination. These risks may be magnified if the individual has a pre-existing medical condition.     

The effect of donepezil on sedation and other symptoms in patients receiving opioids for cancer pain: a pilot study

Opioid-induced sedation is a major complication in patients with cancer pain. This study assessed the effectiveness of donepezil in opioid-induced sedation and related symptoms in patients with cancer pain. Twenty-seven patients who were receiving strong opioids for pain and reported sedation were enrolled. Donepezil 5 mg was given every morning for 7 days. Changes between baseline and Day 7 in sedation, pain, fatigue and other symptoms were evaluated using the Edmonton Symptom Assessment Scale. Fatigue was also measured using the Functional Assessment of Chronic Illness Therapy-Fatigue (FACIT-Fatigue). Overall usefulness of donepezil was measured by the patient at the end of the study. In 20 evaluable patients, sedation, fatigue, anxiety, well-being, depression, anorexia and problems with sleep were significantly improved. Side effects included nausea, vomiting, diarrhea, muscle and abdominal cramps, and anorexia. Overall, however, the treatment was well tolerated. Donepezil appears to improve sedation and fatigue in patients receiving opioids for cancer pain. Randomized controlled trials of this agent are justified.     

Supramodal effects of covert spatial orienting triggered by visual or tactile events

Event-related functional magnetic resonance imaging was used to identify brain areas involved in spatial attention and determine whether these operate unimodally or supramodally for vision and touch. On a trial-by-trial basis, a symbolic auditory cue indicated the most likely side for the subsequent target, thus directing covert attention to one side. A subsequent target appeared in vision or touch on the cued or uncued side. Invalidly cued trials (as compared with valid trials) activated the temporo-parietal junction and regions of inferior frontal cortex, regardless of target modality. These brain areas have been associated with multimodal spatial coding in physiological studies of the monkey brain and were linked to a change in the location that must be attended to in the present study. The intraparietal sulcus and superior frontal cortex were also activated in our task, again, regardless of target modality, but did not show any specificity for invalidly cued trials. These results identify a supramodal network for spatial attention and reveal differential activity for inferior circuits involving the temporo-parietal junction and inferior frontal cortex (specific to invalid trials) versus more superior intraparietal-frontal circuits (common to valid and invalid trials).     

“Why doesn't she seek help for partner abuse?” An exploratory study with South Asian immigrant women

This study explores why South Asian immigrant women with experiences of partner abuse delay seeking help from professionals. Three focus groups were conducted in Hindi language with South Asian immigrant women in Toronto. Twenty-two women participated with a mean age of 46 years (range 29–68 years). Thematic analysis was conducted on the transcribed data using constant comparison techniques within and across the groups. We found that three major themes emerged from the discussions: reasons for delayed help-seeking, turning points and talking to professionals. Women expressed delaying help-seeking to the point when “Pani sar se guzar jata he” (water crosses over your head). Their dominant reasons for delayed help-seeking were social stigma, rigid gender roles, marriage obligations, expected silence, loss of social support after migration and limited knowledge about available resources and myths about partner abuse. Women usually turned for help only after experiencing pronounced mental and physical health problems.     

Electronic Patient Registries Improve Diabetes Care and Clinical Outcomes in Rural Community Health Centers

ABSTRACT:  Context: Diabetes care is challenging in rural areas. Research has shown that the utilization of electronic patient registries improves care; however, improvements generally have been described in combination with other ongoing interventions. The level of basic registry utilization sufficient for positive change is unknown. Purpose: The goal of the current study was to examine differential effects of basic registry utilization on diabetes care processes and clinical outcomes according to level of registry use in a rural setting. Methods: Patients with diabetes (N = 661) from 6 Federally Qualified Health Centers in rural West Virginia were entered into an electronic patient registry. Data from pre- and post-registry were compared among 3 treatment and control groups that had different levels of registry utilization: low, medium, or high (for example, variations in the use of registry-generated progress notes examined at the point-of-care and in the accuracy of registry-generated summary reports to track patients' care). Data included care processes (annual exams, screens to promote wellness, education, and self-management goal-setting) and clinical outcomes (HbA1c, LDL, HDL, cholesterol, triglycerides, blood pressure). Findings: The registry assisted in significantly improving 12 of 13 care processes and 3 of 6 clinical outcomes (HbA1c, LDL, cholesterol) for patients exposed to at least medium levels of registry utilization, but not for the controls. For example, the percent of patients who had received an annual eye exam at follow-up was 11%, 34%, and 38% for the low, medium, and high utilization groups, respectively; only the latter groups improved. Conclusions: As an initial step to achieving control of diabetes, basic registry utilization may be sufficient to drive improvements in provider-patient care processes and in patient outcomes in rural clinics with few resources.     

Home Health Agency Profit Orientation and Risk for Hospitalization: A Propensity Score Analysis of Population Weighted Data

Little recent research exists identifying home health agency (HHA) organizational characteristics that influence home health quality. This study evaluates the impact of HHA profit orientation on quality, measured as patient risk for hospitalization within 60 days of agency admission. Our sample (n = 1,304), from the National Home and Hospice Care Survey, comprised noninstitutionalized patients, 18 and older, including all payer types, discharged from free-standing HHAs. Our most deconfounded estimate, derived by propensity score adjusted, weighted polytomous logistic regression, yielded a for-profit hospitalization odds ratio of 1.31 but with a large confidence interval including unity. Results do not support our hypothesis of higher hospitalization risk for for-profit HHA patients.