Coronary artery disease in postmenopausal women

Opinion statement Many important developments recently have been made in the treatment and prevention of coronary artery disease (CAD) in postmenopausal women. Substantial evidence supports focusing on comprehensive risk factor modification based on the "ABCs" of CAD management from the American College of Cardiology, the American Heart Association, and the American College of Physicians-American Society of Internal Medicine guidelines on chronic stable angina [1•]. This approach emphasizes cardiovascular risk factor interventions that include antiplatelet agents, angiotensinconverting enzyme (ACE) inhibitors, beta-blockers, cholesterol-lowering medications, diabetes control, and counseling on diet and exercise. Despite the expanding available literature, many questions on CAD in postmenopausal women remain unanswered and await the publication of ongoing and future research. The unexpected findings from the HERS (Heart and Estrogen/ progestin Replacement Study) failed to show a benefit of hormone replacement therapy (HRT) in reducing the risk of subsequent events in postmenopausal women with CAD, and instead reported an early increase in CAD events [2]. Based on the data available so far, we advise against starting HRT in postmenopausal women with a recent coronary event for the sole purpose of CAD prevention. For women with acute coronary syndromes, prompt angiography and revascularization should be considered.     

Abnormal thyroid stimulating hormone (TSH) in psychiatric long-term care patients

The objective of the study was to find the prevalence of thyroid dysfunction in long-term care patients referred to psychiatry. We reviewed 868 charts of long-term care residents referred for psychiatric consultation to the university-based psychiatry outreach service. Data obtained were demographics, psychiatric and thyroid diagnoses, and TSH data. Of 868 patients, 10.8% had elevated TSH, 8% in those with a prior diagnosis of hypothyroidism. TSH was low in 0.07%. Elevated TSH was associated with female gender (p < 0.001) and a trend with psychosis (p = 0.056). No association was found with depression or behavioral disturbance in this study.     

Strategies for the review of transfusion practices

The intent of this report is to familiarize health care professionals with the concept of effective quality assurance in regard to blood use. Although evaluation of the appropriateness of transfusion therapy is now required by the Joint Commission on Accreditation of Health Organizations, health care facilities have little experience with this aspect of professional quality assurance. To this end, the Committee on Transfusion Practices of the American Association of Blood Banks, in Arlington, Va, in this report has provided examples of indications and audit criteria for individual blood components and products and commented on areas of controversy surrounding their use. Audit criteria from different institutions may vary because of differences in local interpretation of the indication, different patient populations, and, in some instances, the availability of blood and laboratory services. Several approaches to the review of transfusion practices are discussed in relation to clinical settings and pertaining to particular blood components. It is evident from these examples that there will be an increased need for trained personnel to perform the initial review process as well as for physicians trained in transfusion medicine to oversee the transfusions and provide the necessary consultation.     

Dyggve–Melchior–Clausen syndrome: clinical, genetic, and radiological study of 15 Egyptian patients from nine unrelated families

Introduction  

Dyggve–Melchior–Clausen (DMC) syndrome is a rare autosomal recessive type of skeletal dysplasia. It is characterized by the association of progressive spondyloepimetaphyseal dysplasia (SEMD), microcephaly, mental retardation (MR), and coarse facies. The radiographic appearance of generalized platyspondyly with double-humped end plates and the lace-like appearance of iliac crests are pathognomonic and distinctive of DMC syndrome. The disorder results from mutations in the DYM gene mapped in the 18q12-12.1 chromosomal region.     

Severe hypercalcemia as an initial presenting manifestation of hepatocellular carcinoma.

An 80-year-old white woman who presented with fatigue, weakness, weight loss, constipation and polydipsia is reported. The patient was given a diagnosis of severe hypercalcemia and was subsequently found to have clinical, roentgenographic and pathological evidence of hepatocellular carcinoma. Further studies revealed a low parathyroid hormone level, excluding the possibility of primary hyperparathyroidism, and a negative bone survey, precluding metastatic bone disease. The patient's hypercalcemia was believed to emanate from the humoral secretion of a parathyroid hormone-related peptide, which was found to be elevated, and was abated with conservative management while her cancer was being treated with chemotherapy. The details of this rarely documented presentation, which can easily be mistaken for hepatic encephalopathy, are provided.     

MEFV mutations in Egyptian patients suffering from familial Mediterranean fever: analysis of 12 gene mutations

The objective of the study is to screen 12 MEFV gene mutations in Egyptian patients with familial Mediterranean fever (FMF) and to study the initial hypothesis that the phenotypic expression of the disease may be attributable to the existence of a particular mutation. We enrolled 136 Egyptian patients (74 males, and 62 females) with a clinical diagnosis of FMF. DNA was amplified by PCR and subjected to reverse hybridization for the detection of 12 MEFV gene mutations. The phenotypic expression of the disease was compared in two subgroups according to the presence of homozygote E148Q and M694V gene mutations. The most frequent gene mutations in the studied group were V726A, M694V, M680I, E148Q and M694I in 41.2, 32.4, 29.4, 25 and 20.6%, respectively. At least one of these main five founder mutations was present in 132 patients (97.1%). Thirty-two patients (23.5%) were homozygote for one of the main five founder mutations. The most common homozygote gene mutations were E148Q and M694V, each in 12 patients (8.8%). Significant increase in abdominal pain and arthritis was found in patients with homozygote M694V mutation compared to those with E148Q mutation. All patients with amyloidosis had M694V gene mutation. The increased frequency of V726A gene mutation and the rarity of amyloidosis in this study suggest that Egyptian patients may have a milder form of FMF compared to other populations. The five main founder mutations account for the vast majority of cases of FMF. M694V gene mutation may be associated with increased frequency of abdominal pain, arthritis and the presence of amyloidosis.     

定量化Delaire头影测量分析法的研究进展及展望

定位头影测量方法是评价颅颌面骨骼结构特征的重要手段,广泛运用于颅面生长发育预测及颅颌面骨骼特征等研究^[1]。传统方法诸如Downs分析法、Steiner分析法、Tweed分析法、Wylie分析法、Wits分析法、Ricketts分析法等对颅颌面骨骼结构的评价主要基于角度、线距、比例等,因受面高、颌骨旋转、参照平面变异等影响以及准确度、适用条件等限制,不能充分满足临床需要,     

ATP13A2 variability in Parkinson disease

Recessively inherited mutations in ATP13A2 result in Kufor‐Rakeb syndrome (KRS), whereas genetic variability and elevated ATP13A2 expression have been implicated in Parkinson disease (PD). Given this background, ATP13A2 was comprehensively assessed to support or refute its contribution to PD. Sequencing of ATP13A2 exons and intron‐exon boundaries was performed in 89 probands with familial parkinsonism from Tunisia. The segregation of mutations with parkinsonism was subsequently assessed within pedigrees. The frequency of genetic variants and evidence for association was also examined in 240 patients with nonfamilial PD and 372 healthy controls. ATP13A2 mRNA expression was also quantified in brain tissues from 38 patients with nonfamilial PD and 38 healthy subjects from the United States. Sequencing analysis revealed 37 new variants; seven missense, six silent, and 24 that were noncoding. However, no single ATP13A2 mutation segregated with familial parkinsonism in either a dominant or recessive manner. Four markers showed marginal association with nonfamilial PD, prior to correction for multiple testing. ATP13A2 mRNA expression was marginally decreased in PD brains compared with tissue from control subjects. In conclusion, neither ATP13A2 genetic variability nor quantitative gene expression in brain appears to contribute to familial parkinsonism or nonfamilial PD. Hum Mutat 0, 1–5, 2008. © 2008 Wiley‐Liss, Inc.     

Further psychometric testing of the home healthcare nurse job satisfaction scale

The purpose of this study was to refine the psychometric properties of the Home Healthcare Nurses' Job Satisfaction Scale (HHNJS). A theoretical model of job satisfaction had been used to develop the 30-item HHNJS, representing nine components of job satisfaction. Psychometric properties suggested the need for further refinement. Revised items and construct definitions were subjected to psychometric testing with 2,274 home healthcare nurses. Eight independent subscales consistent with the theoretical model were validated by factor analysis. Estimated internal consistency reliability of six of the eight subscales was improved. Results suggest that the refined HHNJS has potential for improving retention through accurate measurement of job satisfaction of home health care nurses.     

The health, social care and housing needs of lesbian, gay, bisexual and transgender older people: a review of the literature

This paper reports the findings of a literature review of the health, social care and housing needs of older lesbian, gay, bisexual and transgender (LGBT) adults undertaken in 2006 for the Welsh Assembly Government. Peer-reviewed literature was identified through database searches of BNI, PubMed, CINAHL, DARE, ASSIA and PsychInfo. Follow-up searches were conducted using references to key papers and journals as well as specific authors who had published key papers. A total of 187 papers or chapters were retrieved, of which 66 were included in the study; major themes were identified and the findings synthesised using a meta-narrative approach. The main themes that emerged from the review were isolation, health behaviours, mental health and sexual health behaviours. The literature indicates that the health, social care and housing needs of LGBT older people is influenced by a number of forms of discrimination which may impact upon the provision of, access to and take up of health, social care and housing services. Understanding of the health, social care and housing needs of older LGBT people is limited and research in this area is scarce. The research which exists has been criticised for using small samples and for tending to exclude participants from less affluent backgrounds. The focus of research tends to be on gay men and lesbians; consequently, the needs of bisexual and transgender people remain largely unknown. Additionally, research which does exist tends to focus on a narrow range of health issues, often related to the health needs of younger LGBT people. Discrimination in various forms has a major impact on needs and experiences, leading to marginalisation of LGBT people both in the provision of health and social care services and neglect of these groups in public health research.