Neurofilament heavy-chain NfH(SMI35) in cerebrospinal fluid supports the differential diagnosis of Parkinsonian syndromes.

We aimed to evaluate the potential of the cerebrospinal fluid (CSF) axonal damage biomarker NfH(SMI35) in the laboratory-supported differential diagnosis of parkinsonian syndromes. Patients with idiopathic Parkinson's disease (PD; n = 22), multiple-system atrophy (MSA; n = 21), progressive supranuclear palsy (PSP; n = 21), corticobasal degeneration (CBD; n = 6), and age-matched controls (n = 45) were included. CSF levels of NfH(SMI35) were measured using ELISA. Levels of CSF NfH(SMI35) were elevated in PSP compared to PD and controls (P < 0.05 each). They were also significantly higher in MSA than in PD and controls (P < 0.05 each). NfH(SMI35) differentiated PD from PSP with a sensitivity of 76.5% and a specificity of 94.4%. Axonal damage as measured by CSF NfH(SMI35) is most prominent in the more rapidly progressive syndromes PSP and MSA as compared to PD or CBD. CSF NfH(SMI35) may therefore be of some value for the laboratory-supported differential diagnosis of atypical parkinsonian syndromes.     

足部骨筋膜室综合征早期诊断与治疗

目的:探讨足部骨筋膜室综合征早期诊断与治疗结果。方法:1998年1月-2003年12月收治15例足骨筋膜室综合征患者(均为男性:年龄15～55岁,平均32岁),行足背双切口减压4例,足底内侧减压9例,足内外两侧减压2例。1周后行减张缝合或植皮术。结果:15例随访9～24个月,12例恢复佳,足运动感觉正常;2例有足底感觉减退、足趾麻木;1例遗留前足挛缩、无力,足趾麻木。无爪形趾及功能障碍者。结论:足损伤后,Whiteside法测定组织间隙压力是诊断足骨筋膜室综合征的可靠方法。治疗时足部如有骨折、血肿者,骨筋膜室减张切口,宜选择足底内侧切开效果较好。     

Congenital endophthalmitis following maternal shellfish ingestion

Purpose: To highlight an unusual organism causing a unilateral endophthalmitis by transplacental spread.
Method: We report a case of Plesiomonas shigelloides endophthalmitis, presenting in a newborn, with co-existing septicaemia and meningitis. There was a significant maternal history of diarrhoea associated with the ingestion of oysters 2 weeks prior to delivery.
Result: The endophthalmitis was treated with parenteral antibiotics and topical mydriatics with complete resolution, although subsequent assessment of the affected eye suggests a poor visual outcome.
Conclusion: Endophthalmitis in the newborn is an unusual clinical finding and usually presents with other manifestations of bacteraemia. Plesiomonas shigelloides is fortunately an infrequent cause of neonatal infection, but is associated with a high degree of morbidity and mortality. We postulate that this neonate acquired P. shigelloides via the transplacental route, and suggest that this organism be included in the list of 'other' causes of transplacental infection that has been abbreviated to 'O' in the acronym TORCH.     

Factors Affecting Cardiac Catheterization Rates in Elders with Acute Coronary Syndromes

Background: Elder patients with acute coronary syndromes (ACS) are less likely to receive cardiac catheterization. The reasons for this are unclear.
Objectives: To assess whether elder patients who had a documented history of dementia, lived in extended care facilities, or had do not intubate–do not resuscitate (DNR-DNI) advance directives were less likely to receive cardiac catheterization, despite having ACS with high-risk features.
Methods: This was a medical record review conducted at an urban teaching hospital. DNR-DNI status before hospitalization, extended care facility (nursing home or assisted living) residence, and a previous diagnosis of dementia were obtained from the medical record. Patients 65 years and older who presented to the emergency department with acute myocardial infarction or with unstable angina with ST segment deviation were included. Univariate and multivariate logistic regression were performed, and odds ratios (ORs) were reported with their 95% confidence intervals (CIs).
Results: Of the 201 eligible patients, 66 (32.8%) patients did not undergo cardiac catheterization. In the univariate analysis, patients who had dementia, resided in extended care facilities, or were DNR-DNI were less likely to receive cardiac catheterization. Only extended care facility residence (OR, 0.18; 95% CI = 0.04 to 0.83) and DNR-DNI status (OR, 0.19; 95% CI = 0.04 to 0.92) remained significantly associated with decreased cardiac catheterization in the multivariate analysis.
Conclusions: Elder patients with ACS residing in extended care facilities or who are DNR-DNI are less likely to receive cardiac catheterization. Future studies concerning the quality of ACS care for elders should take these variables into account.     

Correlation between bone marrow karyotype and the occurrence of erythroblast micronuclei and nuclear budding in patients with myelodysplastic syndromes

147 patients with myelodysplastic syndromes were investigated for the presence of micronuclei and nuclear budding in bone marrow erythroblasts. The patients were divided into subgroups on the basis of bone marrow karyotype, 31 healthy bone marrow donors constituted a control group. Patients with monosomy 7 or 7q- and patients with major karyotypic abnormalities (MAKA) had significantly more erythroblasts with micronuclei and nuclear budding than the control group. Patients with a 5q- chromosome as the sole karyotypic aberration had more micronuclei than the controls. For other patients with MDS the differences were statistically nonsignificant.     

Genetic abnormalities and CNS tumors: report of two cases of ependymoma associated with Klinefelter’s Syndrome (KS)

Objects Genetic syndromes associated with ependymoma are uncommon, with the exception of NF2. We describe two cases of ependymoma presenting with Klinefelter’s Syndrome (KS) as co-morbid condition. Materials and methods The first patient was diagnosed for KS during pregnancy; he also presented a thyroid agenesis and a deficit of methyltetrahydrofolate reductase (MTHFR); at 30 months of age he was operated on for a grade II ependymoma of IV ventricle; after a multiple-stage surgery, he underwent oral chemotherapy and stereotactic radiotherapy, but after 15 months he presented a local recurrence and died. The second patient was diagnosed for KS at the age of 16 months; at 10 years of age, due to back pain, he underwent an MRI, which showed a cauda equine tumor. He underwent surgery and radiotherapy. Histology was of mixopapillary ependymoma. Conclusion In a review of literature, various neoplasms have been described in association with KS. To our knowledge, these are the first two cases reported of ependymoma associated to KS. A retrospective study of 44 monoinstitutional ependymoma cases demonstrated association with genetic syndromes in 22%.     

Sarcoidosis and primary biliary cirrhosis

Summary An unusual case of a woman with primary biliary cirrhosis and cutaneous sarcoidosis is described. The factors that allow a specific diagnosis of each condition are presented and the literature pertaining to such complex and unusual cases is presented.This work was supported in part by a grant from the Gastroenterology Medical Research Foundation of Southwestern Pennsylvania.     

臀上皮神经临床意义

目的:阐明臀上皮神经临床意义。方法:解剖20具尸体(40侧)腰臀区,对臀上皮神经及相关结构进行解剖、观察、分析。结果:40侧腰臀区共发现138支臀上皮神经。在神经出胸腰筋膜后层处的卵圆形空隙有27个,其剩余空间周围见有脂肪组织。结论:臀上皮神经穿出胸腰筋膜后层处的卵圆形空隙为引起脂肪组织疝出、卡压神经引发腰痛的薄弱点。     

Dopamine transporters, D2 receptors, and glucose metabolism in corticobasal degeneration.

Alterations in presynaptic and postsynaptic dopaminergic system and cerebral glucose metabolism in corticobasal degeneration (CBD) were assessed to evaluate the potential usefulness of different imaging methods for CBD. (123)I-FP-CIT/(123)I-beta-CIT SPECT and (123)I-IBZM SPECT as well as (18)F-FDG PET were performed in eight CBD patients. Decreased presynaptic dopamine transporter binding was found in all CBD patients while D2 receptor binding was reduced in only one patient. (18)F-FDG PET displayed a contralateral hypometabolism in cortical and subcortical areas in seven out of eight patients. Our results demonstrate that glucose metabolism and DAT are reduced, while D2 receptors may be frequently preserved in CBD.