The epidemiology of Alzheimer disease in intellectual disability: results and recommendations from an international conference

Among adults with intellectual disability, virtually everyone with Down's syndrome (DS) over the age of 40 years has neuropathology currently viewed to be consistent with a diagnosis of Alzheimer disease (AD), while other adults with intellectual disability without DS display an increased prevalence of Alzheimer-type neuropathology after they reach the age of 65. This paper presents the results of discussions by an epidemiology workgroup, formed at an international conference convened to discuss AD among people with intellectual disability, concerning: (I) the incidence and prevalence of clinical dementia in adults with intellectual disability; (2) risk factors for the development of AD in adults with intellectual disability; and (3) a minimum data set that would be of great utility for future research on AD in adults with intellectual disability.     

Association between genetic variants in sortilin-related receptor 1 (SORL1) and Alzheimer's disease in adults with Down syndrome

Recent reports have suggested that variants in the sortilin-related receptor gene (SORL1) increase the risk of late onset Alzheimer's disease (AD) in Northern European, Hispanic, African–American and Isreali–Arab populations. SORL1 directs trafficking of amyloid precursor protein (APP) and under-expression of SORL1 may lead to over-expression of β amyloid peptides. Adults with Down syndrome (DS) over-express APP and have early onset and high risk for AD. We investigated the relation of seven variants in the gene for SORL1 to age at onset and risk for AD among 208 adults with DS, 45–70 years of age at baseline. Participants were ascertained through the New York State developmental disability service system and followed at 18-month intervals. Information from cognitive assessments, caregiver interviews, medical record review and neurological examination was used to establish the diagnosis of dementia. Homozygosity for the minor T allele in rs556349 and for the minor C allele in rs536360 was associated with later age at onset and reduced risk of AD (HR = 0.26, 95% CI: 0.08–0.86; and HR = 0.40, 95% CI: 0.16–0.98, respectively). Mean age at onset was approximately four years later in individuals who were homozygous for those alleles compared with those who had at least one major allele. These findings indicate a modest association of variants in SORL1 with AD. In addition, we did not observe the same alleles to be associated with AD compared with earlier studies, suggesting that these SNPs are in linkage disequilibrium (LD) with the putative functional variants or that expression of the SORL1 gene and hence its interaction with APP might be modified by the extremely high levels of APP characteristic of Down syndrome. Thus, further studies are needed to identify functional variants that influence risk for AD in this uniquely vulnerable population.     

Beckman EL-ISE电解质分析仪准确性及故障的分析判断

0 引言为了克服离子选择电极（ISE）法的微量电位信号极易受环境温度变化及电子噪声的干扰问题,该仪器采用了参考电极,把参考电极与其测定电极装在同一测量室内,保持其相同的物理环境,使干扰源对所有电极的影响相同. 以内参液作为参考电极的测量对象,测得一个参考电极电位值,再测样品的电极电位值,二者相抵就消除了所叠加的干扰信号.     

心脏直视手术围术期自体血回输335例的监护

0　引言　自体输血是采集患者体内血或回收自体失血,再输回同一患者,献血者与受血者为同一个体,既可以节约临床用血,减少患者费用,更重要是可以避免或减少同种输血传播感染性疾病.我科对335例体外循环心内直视手术患者实行自体血回输,收到较好的社会效益和经济效益.1　临床资料　1998-09/1999-02,我科心脏直视手术共445例,围术期采用自体输血335例,其中先心病226例,瓣膜手术59例,复杂心内畸形37例,冠心病、大血管13例,占同期体外循环心内直视手术75%.患者主要适应证:心脏及大血管外科手术,术前一般情况尚好,无肝、肾、呼吸功能障碍;术前检查…     

Uterine Conservation at the Time of Pelvic Organ Prolapse Treatment: the Options for Patients and Providers

Surgical management of pelvic organ prolapse (POP) is a growing field. POP surgery has traditionally involved performing a hysterectomy at the time of repair for apical compartment prolapse. In recent years, providers and patients have called the medical necessity of this practice into question. There is growing evidence that uterine conservation may be a viable option during the time of prolapse repair. This article will review the historical perspective of uterine conservation, patient selection, conservative management, as well as surgical techniques and recent supporting literature of uterine-sparing procedures for POP. As women seek more minimally invasive approaches for prolapse repair, we anticipate that uterine conservation will continue to gain popularity.