Osteogenesis imperfecta in childhood: Treatment strategies

Osteogenesis imperfecta (OI) is a skeletal disorder of remarkable clinical variability characterized by bone fragility, osteopenia, variable degrees of short stature, and progressive skeletal deformities. Additional clinical manifestations such as blue sclerae, dentinogenesis imperfecta, joint laxity, and maturity onset deafness are described in the literature. OI occurs in about 1 in 20,000 births and is caused by quantitative and qualitative defects in the synthesis of collagen I. Depending on the severity of the disease, a large impact on motor development, range of joint motion, muscle strength, and functional ability may occur. Treatment strategies should primarily focus on the improvement of functional ability and the adoption of compensatory strategies, rather than merely improving range of joint motion and muscle strength. Surgical treatment of the extremities may be indicated to stabilize the long bones to optimize functional ability and walking capacity. Surgical treatment of the spine may be indicated in patients with progressive spinal deformity and in those with symptomatic basilar impression.     

Women's narratives on experiences of work ability and functioning in fibromyalgia

Background: Fibromyalgia is a significant health problem for women of working age. However, little is known about the long‐term effects of fibromyalgia in everyday life or on work ability. Methods: A narrative interview study was conducted to explore the experiences of work ability and functioning of patients with a long history of fibromyalgia. Twenty women, aged 34–65 years, were purposively chosen for the interviews, to reach a wide range of patients with different social and professional backgrounds. Results: Four types of experience concerning work ability were identified in the narratives: confusion, coping with fluctuating symptoms, being ‘in between’ and being over the edge of exhaustion. Severe pain and fatigue symptoms, combined with a demanding life situation and ageing, seemed to lead to substantial decrease in work ability and functioning over the long term. In the narratives, vocational rehabilitation or adjustments to work tasks were rarely seen or were started too late to be effective. Conclusions: Exploring the life stories of women with fibromyalgia can reveal the perceived causes and consequences of fibromyalgia related to work ability or disability, which can be utilized in developing client‐centred rehabilitation approaches and effective interventions to support work ability and avoid premature retirement in fibromyalgia patients. Copyright © 2009 John Wiley & Sons, Ltd.     

Association of arterial wave properties and diastolic dysfunction in patients with type 2 diabetes mellitus

Left ventricular (LV) diastolic dysfunction and increased arterial stiffness are prevalent in patients with type 2 diabetes mellitus (DM). Because the systemic vasculature plays a pivotal role in myocardial loading, this study aimed to determine the effect of arterial characteristics on LV diastolic function in patients with type 2 DM. Conventional echocardiography and tissue Doppler imaging were performed in 155 patients with type 2 DM (88 men; mean age 55 +/- 11 years) with preserved LV ejection fractions (>50%). Patients were stratified into groups on the basis of LV diastolic function (normal, n = 53; delayed relaxation, n = 79; pseudonormal, n = 23). Arterial wave reflection parameters and central blood pressure were determined by radial tonometry. Arterial (brachial and carotid) structure and function were determined by standard ultrasound methods. There were no significant differences among the groups on central pressure or arterial function. LV filling pressure, determined by the ratio of early transmitral inflow velocity to diastolic early tissue velocity (E/E'), was significantly correlated with central pulse pressure (r = 0.21, p <0.05). Late diastolic inflow velocity (A) was significantly associated with central pulse pressure (r = 0.32, p <0.001), total arterial compliance (r = -0.35, p <0.001), and carotid artery stiffness (r = 0.34, p <0.001). Multiple regression analysis found central but not brachial pulse pressure independently predicted E/E' and A. In conclusion, increased central pulse pressure, possibly due to amplified pressure wave reflections, is independently associated with abnormal LV diastolic function in patients with type 2 DM.     

Nitric oxide does not significantly contribute to changes in pulse pressure amplification during light aerobic exercise

NO modulates resting blood pressure and wave reflection. The effect of NO on exercise central hemodynamics is unknown but has important implications relating to cardiovascular risk. The aim of this study was to determine the contribution of NO to pulse pressure (PP) amplification and wave reflection during exercise. Twelve healthy men aged 29+/-1 years (mean+/-SEM) undertook cycle exercise at 60% of their maximal heart rate. Noninvasive measures of central blood pressure, estimated aortic pulse wave velocity, and wave reflection (augmentation index) were obtained by pulse wave analysis during intravenous infusion of saline (control), N(G)-monomethyl-l-arginine (a NO-synthase inhibitor), or noradrenaline (control vasoconstrictor). PP amplification was defined as the ratio of peripheral to central PP. Cardiac output and stroke volume were determined by electric bioimpedance. Both N(G)-monomethyl-l-arginine and noradrenaline caused a significant increase in mean arterial pressure (P<0.01) and augmentation index (P<0.01), as well as reduced ratio of peripheral to central PP (P<0.05) at baseline. Exercise caused a significant increase in the ratio of peripheral to central PP (P<0.001), whereas augmentation index and estimated aortic pulse wave velocity declined (for both P<0.05) during all 3 of the infusion protocols. However, no significant differences were observed in augmentation index, ratio of peripheral to central PP, or estimated aortic pulse wave velocity between infusion procedures (P>0.50) during exercise. Also, heart rate, peripheral vascular resistance, and cardiac output did not differ during exercise between saline, N(G)-monomethyl-l-arginine, or noradrenaline. Although we cannot rule out other vasodilator mechanisms having adjusted for NO blockade, our results indicate that NO does not solely contribute to systemic arterial stiffness or altered blood pressure amplification during light exercise.     

Whiplash Associated Disorders: Pathomechanics, Diagnosis, and Management

Abstract:   Whiplash has been defined as an injury mechanism, an injury, a medico-legal or social dilemma, and a complex chronic pain syndrome. Whiplash associated disorders are frequent in the cervical spine, especially as a result of a motor vehicle accident. The mechanisms responsible for whiplash-related tissue trauma are complex and a clinician's understanding of these complexities lends to a more complete appreciation for the anatomical structures and pathological processes that are involved, as well as a comprehensive diagnosis and appropriate management. While several classification scales have been developed for whiplash associated disorders, a thorough and tissue-specific examination is merited. Management should be directed toward pain reduction and normalization of mechanics. While conservative measures can address many of clinical sequelae of whiplash, both invasive pain management procedures and surgical interventions may be paramount to a patient's complete recovery.     

大鼠心房肽Ⅲ及其小分子类似物的合成与生物活性

以逐步合成法固相合成了大鼠心房肽Ⅲ(APⅢ)及22肽的小分子类似物。用无水氟化氢将肽从树脂上切下,同时脱除所有侧链保护基。还原产物在30%乙酸高度稀释下用碘作氧化剂,使分子内2个半胱氨酸氧化形成二硫键。经SephadexG-l5柱层析、透析和高效液相层析分离纯化,获得在反相高效液相层析(分析柱)为单一峰的高纯度产物。酸水解后氨基酸组成分析证实与理论值相符,生物活性测定表明,合成的APⅢ有强利尿、利尿钠、降血压和舒张血管乎滑肌作用。化学修饰后的小分子APⅢ类似物有APⅢ的全部生物活性,且作用时间延长。