Case Report: Second case of a successful pregnancy in maternal isovaleric acidaemia

Summary: A female patient with isovaleric acidaemia had a successful outcome from pregnancy.     

The role of vessel wall physiology in predicting coronary bypass graft patency

Pulmonary hamartomas are usually an incidental finding and range in size from 1 cm to 8 cm in diameter in various series. We report a case of a massive pulmonary hamartoma (size 25.5 × 17.5 × 6.5 cm and weighing 1134 g) in a 61 year old male who presented with a short history of breathlessness. The tumour was arising from the medial border of the right lung and occupying most of the right chest extending in to the anterior mediastinum. The tumour was compressing the right lung and there was no evidence of infiltration into the surrounding structures. It was successfully treated by surgical resection and final histology was pulmonary hamartoma with predominantly adipose and leiomyomatous differentiation.     

Oral beta2-agonist use by preschool children with asthma in East and Central Harlem, New York.

Although studies have documented underuse of controller medications and overuse of short-acting inhaled ss(2)-agonist among children with persistent asthma in disadvantaged communities, the persistence of oral ss(2)-agonist use in pediatric practice has not been studied since inhaled short-acting ss(2)-agonists became widespread. We describe medications used to treat asthma among children 3 to 5 years of age at 10 Head Start and other subsidized preschool centers in East and Central Harlem, New York City. We interviewed 149 parents/guardians of children who were identified as having probable asthma based on physician's diagnosis, persistent symptoms, hospitalization, and medication use. We classified 86 of the 149 children (58%) as having current persistent asthma. Only 15 of them (17%) were reported to have used controller medications at least 5 days/week in the last 4 weeks-only 2 of whom used inhaled corticosteroids. By contrast, 53 children (62%) used oral ss(2)-agonist in the last 4 weeks, often (72%) in conjunction with nebulized or inhaled short-acting ss(2)-agonist. Use of oral ss(2)-agonist was associated with more severe symptoms. This study documents the continued widespread use of oral ss(2)-agonist for treatment of children in a low-income community with high prevalence of asthma.     

Correlation between regional myasthenic weakness and mental aspects of quality of life

Here we report how the different types of regional muscle involvement, i.e. bulbar, ocular or generalized, in patients with myasthenia gravis (MG) influence the mental aspects of quality of life. Clinical examination according to Osserman was performed in 48 MG patients (45 women, three men; mean age 54, SD 12 years). Each patient was at the time for clinical evaluation asked to fill out the disease-specific Myasthenia Gravis Questionnaire (MGQ) and the Short-Form 36-item questionnaire for health survey (SF-36) as patient-oriented tools. We related the regional domains (generalized domain, bulbar domain and ocular domain) of the MGQ and the clinical findings, respectively, with mental quality of life as assessed by SF-36. Bulbar and generalized involvement results in impairment of mental aspects of quality of life, whereas ocular involvement does not.     

外周动脉闭塞患者的交感神经皮肤反应

目的：描述胚胎种植前遗传诊断在1例携带Ⅰ型白细胞黏附缺陷病（LAD-1）携带者并完成健康妊娠夫妇中的应用。设计：病例报道。机构：大学医院生殖中心。患者：1例男女双方都是LAD-1携带者的夫妇，女方CD18基因的外显子4携带有G400A置换，男方的外显子5携带有C562T置换。干预：标准体外受精（IVF）后第3天行卵裂期活检和分裂球遗传分析以检测2处突变以及21号染色体标记物。主要观察指标：1个未罹患LAD-1婴儿的出生。结果：得到15个卵母细胞，其中10个受精。8个胚胎适宜胚胎活组织检查。     

Changes in the SF-12 among Depressed Elders Six Months after Discharge from an Inpatient Geropsychiatric Unit

Using the SF-12 to measure physical and mental functioning, the authors examine the intra-individual changes in health-related quality of life (HRQOL) 6 months post-discharge for depressed older adults. In addition, they examine three sets of predictors that might influence these changes. The sample of depressed older adults was recruited from an inpatient geropsychiatry unit. Although their physical and mental health scores on the SF-12 were lower than comparable norms, the sample showed an average increase in their mental functioning but a decrease in the physical functioning over the 6 months. Negative life-events were significant predictors of people who reported no change in their mental health functioning and decreases in their physical health functioning. Interestingly, those who experienced positive life events were more likely to report declines and younger participants were more likely to report no change in their physical functioning. The findings indicate that the effects of depression on HRQOL can have enduring effects on a sample of previously hospitalized older adults. The significance of life event changes might signify the importance of taking into account non-traditional areas of medical interventions. Further, the findings indicate the usefulness of the SF-12 quantifying HRQOL outcomes.