Free copper and resting temporal EEG rhythms correlate across healthy, mild cognitive impairment, and Alzheimer's disease subjects.

OBJECTIVE: The present study tested the hypothesis that the serum copper abnormalities were correlated with alterations of resting electroencephalographic (EEG) rhythms across the continuum of healthy elderly (Hold), mild cognitive impairment (MCI), and AD subjects. METHODS: Resting eyes-closed EEG rhythms delta (2-4Hz), theta (4-8Hz), alpha 1 (8-10.5Hz), alpha 2 (10.5-13Hz), beta 1 (13-20Hz), beta 2 (20-30Hz), and gamma (30-40Hz), estimated by LORETA, were recorded in 17 Hold, 19 MCI, 27 AD- (MMSE< or =20), and 27 AD+ (MMSE20) individuals and correlated with copper biological variables. RESULTS: Across the continuum of Hold, MCI and AD subjects, alpha sources in parietal, occipital, and temporal areas were decreased, while the magnitude of the delta and theta EEG sources in parietal, occipital, and temporal areas was increased. The fraction of serum copper unbound to ceruloplasmin positively correlated with temporal and frontal delta sources, regardless of the effects of age, gender, and education. CONCLUSIONS: These results sustain the hypothesis of a toxic component of serum copper that is correlated with functional loss of AD, as revealed by EEG indexes. SIGNIFICANCE: The present study represents the first demonstration that the fraction of serum copper unbound to ceruloplasmin is correlated with cortical delta rhythms across Hold, MCI, and AD subjects, thus unveiling possible relationships among the biological parameter, advanced neurodegenerative processes, and synchronization mechanisms regulating the relative amplitude of selective EEG rhythms.     

Two-step endoscopic resection of gastric leiomyomas

Summary Our two-step technique for endoscopic treatment of gastric leiomyomas is illustrated. From January 1979 to June 1991, nine symptomatic patients with sessile leiomyomas of the stomach were treated at the Endoscopy Division of Istituto Nazionale Tumori, Milan.The diagnosis was achieved by means of endoscopic observation of the lesion and, when possible, by ultrasound endoscopy.This new technique consists of first removing superficial portion of the tumor by electrosurgical snare. Second, a cleavage plane is found within the proper muscle layer; the tumor is enucleated as much as possible by tightening the snare around it and creating a pseudo-stalk. No major complication occurred nor were any recurrences observed at 21.8 months in the 7/9 patients treated by endoscopy alone. Endoscopic therapy was performed on an outpatient basis and only large lesions required short hospitalization.     

MR findings in pituitary haemosiderosis

A girl with Diamond-Blackfan syndrome and hypopituitarism was suspected of having pituitary haemosiderosis because of the clinical picture and the long history of blood transfusions. On T1-weighted MR images the pituitary exhibited a markedly hypointense anterior lobe (mimicking the empty sella), suggesting iron deposition, while on T2W MRI the low signal of the pituitary was surrounded by the high signal of the CSF. MR may be considered the examination of choice for detecting iron overload in the pituitary. Received: 10 November 1997 Accepted: 21 November 1997     

Laparoscopic Treatment of Gallbladder and Common Bile Duct Stones: A Prospective Study

n = 2), port site infection ( n = 2), and subumbilical hematoma ( n = 1). Major morbidity was bile leakage from the cystic duct stump in two cases due to clips or transcystic duct drainage displacement, respectively. One elderly, high risk patient died after being referred for several failed attempts of endoscopic clearance; she died from cardiogenic shock 3 days after successful laparoscopic treatment. Laparoscopic CBD exploration is feasible and safe in most patients, with short-term results that compare favorably with the results of sequential ES/LC reported in the literature.     

Circumferential choledochoplasties with autologous venous and arterial grafts

Circumferential choledochoplasties with vascular grafts have rarely been attempted either experimentally or in clinical practice. In this study, choledochoplasties using autologous venous and arterial grafts were performed in rats. Sixty-four rats were randomly selected into five treatment groups: A) venous interpositional graft replacement of a choledochus gap without a stent; B) venous graft with prolene stent; C) venous graft with polyethylene stent; D) arterial graft; E) a control group with simple resection between ligatures in the choledochus. The operative mortality in treatment groups B, C, D, and E, was 0, and 13% in group A. At 12 weeks follow-up, all the rats in group E had died, whereas, 52.2% (P <.05) of the rats in group A, 30% of the rats in group B, 57% of the rats in group C, and 92.8% of the rats in group D survived treatment. Surviving animals were sacrificed at 3 months for further examination. The morphology and caliber of the common bile duct of these rats were normal in 25% of the rats in group A, 33% of the rats in group B, 25% of the rats in group C, and 84.6% of the rats in group D. Proximal dilations were found in the rats presenting with abnormal morphology. The dilations were less marked in the group treated by arterial choledochoplasties. Laboratory and clinical cholestatic parameters were within normal ranges in the presence of common bile duct dilations less than four times the normal duct caliber. Electron microscopic examination of the venous and arterial graft at 3 months follow-up revealed a fibrous ring composed of collagen fibers, fibroblasts, and remnants of elastic fibers. Regenerated ductal epithelium encompassed both types of grafts. Epithelialization was more pronounced in venous grafts as compared to arterial grafts. Biliary epithelium was able to colonize the venous grafts and resume cell specialization and function as in normal biliary epithelium. The most satisfactory results were obtained using venous grafts with stents or by using arterial grafts. © 1993 Wiley-Liss Inc.     

Rest-injected thallium-201 redistribution and resting technetium-99m methoxyisobutylisonitrile uptake in coronary artery disease: relation to the severity of coronary artery stenosis

To compare rest-injected thallium-201 (Tl) redistribution and resting technetium-99m methoxyisobutylisonitrile (^99mTc-MIBI) myocardial uptake in chronic coronary artery disease (CAD), 15 patients with angiographically proven CAD and left ventricular (LV) dysfunction (ejection fraction 34%±9%) were studied. All patients underwent rest-redistribution Tl and resting ^99mTc-MIBI cardiac imaging. Gated ^99mTc-MIBI images were also acquired to assess regional LV wall motion (WM). Myocardial segments (n=225) were divided into three groups on the basis of the degree of coronary artery stenosis: group 1 (total occlusion, n=82), group 2 (50%–99% of stenosis, n=84) and group 3 (<50% of stenosis, n=59). WM was significantly worse in groups 1 and 2 compared to group 3 (P<0.001), but no difference was observed between groups 1 and 2. TI and ^99mTc-MIBI uptake were significantly lower in groups 1 and 2 compared to group 3 (P < 0.001), and in group 1 compared to group 2 (P<0.001). When TI and ^99mTc-MIBI uptake were directly compared, TI uptake was higher than ^99mTc-MIBI uptake in group 1 (P<0.001), while no significant difference was observed in groups 2 and 3. Thus, both rest-injected TI redistribution and resting ^99mTc-MIBI uptake reflected the severity of coronary artery stenosis in CAD. However, in myocardial segments with total coronary occlusion T1 uptake was significantly higher than ^99mTc-MIBI uptake. Our data suggest that rest-injected Tl redistribution cardiac imaging may identify, more accurately than resting ^99mTc-MIBI imaging, the presence of viable myocardium in chronic CAD, particularly when the coronary blood flow is severely impaired.     

Identification of sixty-two novel and twelve known FBN1 mutations in eighty-one unrelated probands with Marfan syndrome and other fibrillinopathies

Marfan Syndrome (MFS) is an autosomal dominant disorder of the connective tissue due to mutations of Fibrillin-1 gene (FBN1) in more than 90% of cases and Transforming Growth Factor-Beta-Receptor2 gene (TGFB2R) in a minority of cases. Genotyping is relevant for diagnosis and genotype-phenotype correlations. We describe the FBN1 genotypes and related phenotypes of 81 patients who were referred to our attention for MFS or Marfan-like phenotypes. Patients underwent multidisciplinary pertinent evaluation in the adult or paediatric setting, according to their age. The diagnosis relied on Ghent criteria. To optimise DHPLC analysis of the FBN1 gene, all coding regions of the gene were directly sequenced in 19 cases and 10 controls: heterozygous amplicons were used as true positives. DHPLC sensitivity was 100%. Then, DHPLC was used to screen 62 other cases. We identified 74 FBN1 mutations in 81 patients: 64 were novel and 17 known. Of the 81 mutations, 41 were missense (50.6%), 27, either nonsense or frameshift mutations and predicted a premature termination codon (PTC) (33%), 11 affected splice sites (13.6%), and two predicted in-frame deletions (2.5%). Most mutations (67.9%) occurred in cbEGF-like modules. Genotype was clinically relevant for early diagnosis and conclusion of the diagnostic work-up in patients with incomplete or atypical phenotypes.     

Apolipoprotein(a) phenotypes are reliable biomarkers for familial aggregation of coronary heart disease

Lipoprotein(a) [Lp(a)] is an atherogenic and prothrombotic molecule formed by the covalent binding of the highly polymorphic apolipoprotein(a) [apo(a)] to apoprotein B-100 of LDL. High Lp(a) concentrations are a recognized genetic risk factor for coronary heart disease (CHD) and have been shown to be related with a familial clustering of ischemic cardiac events. Nevertheless, the association between apolipoprotein(a) isoforms and a positive familial history of CHD has received far less attention. In this report, we explored the distribution of apo(a) phenotypes in 127 CHD subjects with a family history of coronary events and in 92 CHD patients without such a history. Twenty-two apo(a) isoforms were detected by a high-resolution immunoblotting method. In univariate analysis, the percentage of subjects with at least one small sized apo(a) isoform was significantly higher in CHD patients with a positive family history than in those without (P<0.01). Multivariate analysis showed that apo(a) isoforms of low molecular weight were the best predictors of familial aggregation of cardiac ischemia. We conclude that apo(a) size polymorphism is strongly associated with a familial history of CHD and is more efficient than Lp(a) plasma concentrations in predicting the familial clustering of coronary disease. When detected by high-resolution techniques, apo(a) phenotypes are objective laboratory markers that can substitute for a knowledge of a positive family history of CHD and should be used, together with Lp(a) levels, to better assess the familial predisposition to coronary events.