Generalised lipodystrophy of the Berardinelli-Seip type (BSCL) is a rare autosomal recessive human disorder with severe adverse metabolic consequences. A gene on chromosome 9 (BSCL1) has recently been identified, predominantly in African-American families. More recently, mutations in a previously undescribed gene of unknown function (BSCL2) on chromosome 11, termed seipin, have been found to be responsible for this disorder in a number of European and Middle Eastern families. We have studied the genotype/phenotype relationships in 70 affected subjects from 44 apparently unrelated pedigrees of diverse ethnic origin. In all subjects, hepatic dysfunction, hyperlipidaemia, diabetes mellitus, and hypertrophic cardiomyopathy were significant contributors to morbidity with no clear differences in their prevalence between subjects with BSCL1 or BSCL2 and those with evidence against cosegregation with either chromosome 9 or 11 (designated BSCLX). BSCL2 appears to be a more severe disorder than BSCL1 with a higher incidence of premature death and a lower prevalence of partial and/or delayed onset of lipodystrophy. Notably, subjects with BSCL2 had a significantly higher prevalence of intellectual impairment than those with BSCL1 or BSCLX (p<0.0001, OR 17.0, CI 3.6 to 79.0). The higher prevalence of intellectual impairment and the increased risk of premature death in BSCL2 compared to BSCL1 emphasise the importance of molecular diagnosis of this syndrome and have clear implications for genetic counselling.
Trait and cultural psychology perspectives on cross-role consistency and its relation to adjustment were examined in two individualistic cultures, the United States (N = 231) and Australia (N = 195), and four collectivistic cultures, Mexico (N = 199), Philippines (N = 195), Malaysia (N = 217), and Japan (N = 180). Cross-role consistency in trait ratings was evident in all cultures, supporting trait perspectives. Cultural comparisons of mean consistency provided support for cultural psychology perspectives as applied to East Asian cultures (i.e., Japan), but not collectivistic cultures more generally. Some but not all of the hypothesized predictors of consistency were supported across cultures. Cross-role consistency predicted aspects of adjustment in all cultures, but prediction was most reliable in the American sample and weakest in the Japanese sample. Alternative constructs proposed by cultural psychologists-personality coherence, social appraisal, and relationship harmony-predicted adjustment in all cultures, but were not, as hypothesized, better predictors of adjustment in collectivistic cultures than in individualistic cultures. Publisher's Disclaimer:The following manuscript is the final accepted manuscript. It has not been subjected to the final copyediting, fact-checking, and proofreading required for formal publication. It is not the definitive, publisher-authenticated version. The American Psychological Association and its Council of Editors disclaim any responsibility or liabilities for errors or omissions of this manuscript version, any version derived from this manuscript by NIH, or other third parties. The published version is available at http://www.apa.org/journals/psp/ NIH Public Access "…for traits to distinguish people from one another, they must display some distinctive consistency." (Johnson, 1997, p. 74) '…an implicit promise of trait theories is to account for consistency across a range of situations." (Moskowitz, 1994, p. 921) "…the functional value of consistency is less clear for East Asian selves" (Heine, 2001, p. 886) "Interdependent selves do not prescribe or require consistency [which] may reflect, not authenticity, but a lack of flexibility, rigidity, or even immaturity" (Markus & Kitayama, 1994, p. 576) As illustrated above, psychologists offer a range of views regarding trait-relevant consistency and its relation to adjustment across cultures. In discussing these differences in emphases or expectations, it is useful to distinguish trait and cultural psychology perspectives. While the trait concept implies a degree of consistency of behavior across relevant situations in all cultures, a number of cultural psychologists have predicted less consistency in collectivistic cultures, where behavior is thought to be more influenced by contextual factors such as roles and relationships (Markus & Kitayama, 1998;Suh, 2002;Triandis, 1995). Furthermore, whereas greater consistency or integration of identity has been described as an indicator of positive mental health i...
SYNOPSIS Eighty‐three migraine patients were admitted to a double‐blind, single cross‐over, propranolol vs. placebostudy. Sixty‐two patients completed the trial. The daily dosage was either 80 or 160 mg. propranolol, or an equivalent number of placebo capsules, for 4 to 8 weeks for the first medication and 8 weeks for the second one. At the end of the trial, 32 patients preferred propranolol and 18 placebo. Those who preferred propranolol had greater reduction in severity and frequency of headaches and less consumption of analgesics and ergotamine than patients who preferred placebo. Side effects were benign. Propranolol issafe and effective for the prophylaxis of migraine if patients are carefully selected.
Introduction: Despite the national focus on trainee burnout, effective wellness programs that can easily be incorporated into training curriculums are lacking. Strategies such as mindfulness and positive psychology, linked with deep breathing, have been shown to increase resiliency. We hypothesized that education about the neuroscience literature, coupled with teaching about well-being using short, easy-to-practice evidence-based exercises, would increase acceptance of this curriculum among residents and that providing protected time to practice these exercises would help trainees incorporate them into their daily lives. Methods: Residents were asked to attend a 60-minute didactic featuring both the concepts and science behind well-being. Residents then attended 15-minute booster sessions during protected didactic time each week for a 12-week curriculum. The booster sessions were peer-led by wellness champions. Additionally, there were monthly competitions using free phone apps to promote physical fitness through steps and flights challenges. Results: The 12-week curriculum was offered to 272 residents across five subspecialties of internal medicine, general surgery, anesthesiology, psychiatry, and physical medicine and rehabilitation. A total of 188 residents (69%) participated in the initial didactic component. The curriculum was positively received, with four of the five residency programs participating in weekly sessions. Residents in four participating departments then chose to continue the weekly sessions on a voluntary basis after the initial 12-week curriculum. Discussion: It is feasible to implement a low-cost, peerled wellness curriculum to educate residents and foster an environment during residency training where mindfulness, optimism, gratitude, and social connectedness are the norm.
SYNOPSIS New patients seen during eleven months were questioned about intake of narcotics or common analgesics with barbiturates prescribed for the treatment of headache. Out of 2,369 new patients, 62 received both medications frequently for at least six months. Thirty‐eight patients were taking a combination of common analgesics and butalbital for 0.5 to 40 years. Eight were dependent; six physically addicted, two psychologically dependent and two were abusers. Seventeen patients were taking codeine and six, propoxyphene for 0.5 to 35 years. No addictions occurred, but there were two codeine and one propoxyphere abuser. There is danger of dependency and abuse in patients with chronic headaches.
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