Unusual association of Axenfeld-Rieger syndrome and wandering spleen: A case report

BACKGROUND Axenfeld-Rieger syndrome(ARS)is an autosomal dominant genetic disease characterized by ocular developmental disorders and its association with torsion of wandering spleen(WS)has not been reported to date to the best of our knowledge.This study aimed to describe a rare case of ARS observed at our emergency department.CASE SUMMARY A 25-year-old female presented with a constant lower abdominal pain of increasing severity.Diagnostic computed tomography with intravenous contrast material showed a non-homogenously enhanced splenic parenchyma with a twisted vascular pedicle.Further,an emergent laparoscopic exploration was performed,and an ischemic spleen without its normal ligamentous attachments was noted.Notably,the spleen did not regain its normal vascularity after detorsion;thus,we performed the laparoscopic total splenectomy.The postoperative course was uneventful,and the patient was discharged on the 5th postoperative day.This case demonstrates a rare association of WS and ARS.CONCLUSION Early diagnosis of WS in the emergency department is important to prevent pedicle torsion or splenic necrosis and to avoid splenectomy.     

阿尔茨海默病前额叶注意功能区fMRI定量研究

目的 应用功能磁共振成像(fMRI)观察阿尔茨海默病(AD)患者在汉语Stroop任务操作中的脑功能区皮层活动情况特征.方法 AD患者10 例,正常对照组9 例,按年龄、性别、文化层次进行配对.功能磁共振运用刺激-休息-刺激的模式,刺激采用汉语Stroop 任务.采用AFNI软件将数据进行处理、分析和标准化,对两组脑激活图像的激活部位及范围进行比较.结果 AD组汉语Stroop色词任务操作反应时间明显长于对照组(P<0.05),正确率明显低于对照组(P< 0.05).AD组和对照组在执行Stroop任务时大脑激活部位无明显差异(P＞0.05);但AD组在双侧额上回、额中回激活体积明显小于对照组(P<0.05).结论 阿尔茨海默病存在选择性注意障碍,这些障碍可能与双侧额上回、额中回脑区功能障碍有关.     

Direct medical costs in patients with Alzheimer's disease in Taiwan: A population-based study

Background: Alzheimer's disease (AD) has the potential to become a major health concern and associated health care costs may become a significant economic burden on society.Objective: The aim of this study was to estimate the direct medical costs attributable to AD in patients aged ≥60 years in Taiwan from 2000 through 2002 and to explore the correlation of these costs with patients' age and sex.Methods: This study was based on the National Health Insurance Research Database of Taiwan's National Health Insurance (NHI) program. The NHI program insures >98% of the 23 million inhabitants of Taiwan. Detailed data were extracted from a random sample of 0.2% of inpatient and 5% of outpatient recipients with AD (International Classification of Diseases, Ninth Revision, Clinical Modification diagnosis code 331.0) who were aged ≥60 years and who received inpatient or outpatient services with claims from January 1, 2000, to December 31, 2002. Duplicate charges for a specific patient and diagnoses of other types of dementia were excluded from this study.Results: A total of 69,780 patients were found to have a diagnosis of AD. The direct medical costs for outpatients were estimated at US $1.2 million in 2000, US $1.9 million in 2001, and US $2.3 million in 2002; the costs for inpatient care were estimated at US $670,000 in 2000, US $2.4 million in 2001, and US $3.2 million in 2002. The total direct medical costs were estimated at US $1.86 million in 2000, US $4.24 million in 2001, and US $5.48 million in 2002. The increase of total direct medical costs was not significantly correlated with patients' age or sex.Conclusions: From 2000 through 2002, the direct medical costs of AD increased annually in Taiwan among patients with AD aged ≥60 years. No significant correlation was found between increased total direct medical costs and sex or age. The cost estimate presented here has implications for future decision making about reallocating medical resources for treating AD in Taiwan.     

Physical activity and implications on well-being in mild Alzheimer's disease: A qualitative case study on two men with dementia and their spouses

To improve the understanding of experiences of people with mild Alzheimer's disease (AD) and their significant others, related to the physical activity of the afflicted persons and its perceived importance. A qualitative case study design was used. The study comprised two men with mild AD and their wives. Data were collected by qualitative interviews and participant observations. Data analysis followed a thematic guideline as described by Braun and Clarke (). Three central themes of experiences related to physical activity in AD were identified: 1) physical activity as health reinforcement; 2) barriers to physical activity; and 3) adaptation strategies. Important motivations for outdoor walks were enjoyable experiences of nature, body movement, and positive attitudes toward physical activity. Several factors were experienced as barriers to physical activity (e.g., tiredness, difficulties in finding one's way, and “peculiar behavior”). Significant others made considerable adjustments in everyday life to enable their partners to retain a physically active lifestyle. The findings indicate that in persons with AD, physical activities such as outdoor walking can play an important part in everyday life by creating meaningful routines and improving experienced well-being and health.     

A case study: identifying a new case of Wilson's disease

PURPOSE: To present a case of Wilson's disease that presented with fatigue, nausea, abdominal pain, and splenomegaly. Patient information, diagnostic tests, etiology, anatomy and physiology, pathophysiology, assessment, signs and symptoms, diagnosis, medical treatment, nursing interventions, patient education, and research findings related to Wilson's disease are discussed. DATA SOURCES: Case study and scientific literature from Internet, journals, and medical textbooks. CONCLUSIONS: Wilson's disease is a hereditary, autosomal-recessive disease affecting copper excretion. As copper accumulates, signs and symptoms appear. Individuals often present with nonspecific findings, making diagnosis difficult. IMPLICATIONS FOR PRACTICE: This article reviews this rare but potentially devastating disease. Early diagnosis is vital to prevent copper accumulation leading to hepatic cirrhosis, basal ganglia degeneration, and irreversible organ damage.     

Hippocampal shape analysis in Alzheimer's disease: a population-based study

BACKGROUND: Hippocampal atrophy--particularly of the CA1 region--may be useful as a biomarker for Alzheimer's disease (AD) or the risk for AD. The extent to which the AD hippocampus can be distinguished in vivo from changes due to normal aging or other processes that affect the hippocampus is of clinical importance and is an area of active research. In this study, we use structural imaging techniques to model hippocampal size and regional shape differences between elderly men with incident AD and a non-demented comparison group of elderly men. METHODS: Participants are Japanese-American men from the Honolulu Asia Aging Study (HAAS). The HAAS cohort has been followed since 1965. The following analysis is based on a sub-group of men who underwent MRI examination in 1994-1996. Participants were diagnosed with incident AD (n=24: age=82.5+/-4.6) or were not demented (n=102: age=83.0+/-5.9). One reader, blinded to dementia diagnosis, manually outlined the left and right hippocampal formation using published criteria. We used 3D structural shape analysis methods developed at the Laboratory of Neuro Imaging (LONI) to compare regional variation in hippocampal diameter between the AD cases and the non-demented comparison group. RESULTS: Mean total hippocampal volume was 11.5% smaller in the AD cases than the non-demented controls (4903+/-857 mm(3) vs. 5540+/-805 mm(3)), with a similar size difference for the median left (12.0%) and median right (11.6%) hippocampus. Shape analysis showed a regional pattern of shape difference between the AD and non-demented hippocampus, more evident for the hippocampal body than the head, and the appearance of more consistent differences in the left hippocampus than the right. While assignment to a specific sub-region is not possible with this method, the surface changes primarily intersect the area of the hippocampus body containing the CA1 region (and adjacent CA2 and distal CA3), subiculum, and the dentate gyrus-hilar region.     

Familial Alzheimer's disease: a study of HLA markers

We have studied HLA markers in family with 2 "Probable" and 2 "possible" cases of Alzheimer disease over 3 generations. Three of them (two brothers and the father) present A29 C-B12 DR2 haplotype. It seems that it exists an association between HLA system and Alzheimer disease but we cannot define the character of this genetic linkage; the study of many families and sporadic cases will allow to define it.     

奎硫平治疗阿尔茨海默病伴精神行为障碍对照研究

目的探讨奎硫平治疗阿尔茨海默病伴精神行为障碍患者的临床疗效和安全性。方法将66例阿尔茨海默病伴精神行为障碍患者随机分为两组各33例,研究组口服奎硫平治疗,对照组口服利培酮治疗,观察8w。于治疗前及治疗第2w、4w、8w末采用简明精神病量表评定临床疗效、副反应量表评定不良反应。结果治疗8w末,研究组有效率93．9％,对照组为90．9％;治疗2w末起两组简明精神病量表总分均较治疗前有显著下降,并随着治疗时间的延续呈持续性下降（P〈0．05或0．01）;治疗4w末研究组简明精神病量表焦虑抑郁因子分显著低于对照组（P〈0．05）;两组不良反应均轻微。结论奎硫平治疗阿尔茨海默病伴精神行为障碍效果显著,总体疗效、安全性与利培酮相当。     

Brain imaging in the study of Alzheimer's disease

Over the last 20 years, there has been extraordinary progress in brain imaging research and its application to the study of Alzheimer's disease (AD). Brain imaging researchers have contributed to the scientific understanding, early detection and tracking of AD. They have set the stage for imaging techniques to play growing roles in the clinical setting, the evaluation of disease-modifying treatments, and the identification of demonstrably effective prevention therapies. They have developed ground-breaking methods, including positron emission tomography (PET) ligands to measure fibrillar amyloid-β (Aβ) deposition, new magnetic resonance imaging (MRI) pulse sequences, and powerful image analysis techniques, to help in these endeavors. Additional work is needed to develop even more powerful imaging methods, to further clarify the relationship and time course of Aβ and other disease processes in the predisposition to AD, to establish the role of brain imaging methods in the clinical setting, and to provide the scientific means and regulatory approval pathway needed to evaluate the range of promising disease-modifying and prevention therapies as quickly as possible. Twenty years from now, AD may not yet be a distant memory, but the best is yet to come.     

A first-principles study on potential chelation agents and indicators of Alzheimer's disease

Human-serum transferrin is involved in the transportation of aluminum across the blood–brain barrier. Aluminum accumulation within the neuron causes the cell to degrade. In our research, we considered 12 potential chelators of aluminum from the aluminum–human serum transferrin complex and 3 potential indicators of Alzheimer''s. We performed Density Functional Theory calculations comparing the binding energies of aluminum–chelator complexes and the binding energy of the aluminum–human serum transferrin complex and determined the charge transfer of the aluminum–chelator complex. Our results showed that CDTA is the only one that has direct chelation potential, but 1-ethyl-3-hydroxypyridin-2-one, citric acid, DTPA, oxalic acid, and salicylhydroxamic acid also had a strong and stable bond with aluminum and still have the ability to be potential chelators. The charge transfer calculation further enforces that these 6 chelators have strong and stable bonds with aluminum. Furthermore, we evaluated potential indicators of Alzheimer''s disease. Metals that have a similar binding affinity to human serum transferrin as that of iron prove to be potential indicators of Alzheimer''s disease. Due to the minimal difference in binding energies of the gallium–human serum transferrin complex and the indium–human serum transferrin complex to the iron–human serum transferrin complex, we determined that gallium and indium could be potential indicators of Alzheimer''s disease.

Human-serum transferrin is involved in the transportation of aluminum across the blood–brain barrier.