Amyotrophic lateral sclerosis: a new missense mutation in the SOD1 gene

Copper-zinc superoxide dismutase-1 (SOD1) is the second most common mutated gene in amyotrophic lateral sclerosis (ALS). To date more than 150 missense mutations of SOD1 have been reported. The objective of this study was to describe a novel SOD1 mutation and its phenotypic expression. We describe a 74-year-old Caucasian man who began to complain of progressive weakness and atrophy of the right hand and over 10 months developed a severe tetraparesis, with atrophies of upper and lower limbs and neck muscles, dysphagia, and dyspnea that led to percutaneous endoscopic gastrostomy and tracheotomy. A diagnosis of ALS was made. Genetic analysis identified a heterozygous mutation in exon 4 of SOD1 that results in the amino acid substitution from arginine to cysteine at position 115 (p.R115C). We identified a novel pathogenic SOD1 mutation in a patient with a very rapid disease progression and aggressive phenotype providing additional information on the wide range of SOD1 mutations in apparently sporadic ALS and confirming the possibility of a strong genotype-phenotype correlation for distinct SOD1 mutations.     

Hemorrhagic and nonhemorrhagic brain lesions: evaluation with 0.35-T fast MR imaging

Two fast magnetic resonance (MR) imaging techniques, advanced Fourier and partial-flip imaging, were used at 0.35 T to examine 21 patients with suspected intracranial lesions; the results were quantitatively compared with a conventional spin-echo study. Both of the fast MR techniques yielded a fourfold reduction in imaging time per section. The advanced Fourier sequence showed contrast that was identical to the conventional spin-echo study with signal-to-noise ratios of 58% and 57% for the first and second echoes, respectively. The partial-flip sequence showed a contrast of 109% and 57% for lesions versus substantia alba, and 107% and 78% for substantia grisea versus substantia alba relative to the first and second echoes of the conventional spin-echo study. The partial-flip sequence was particularly sensitive to magnetic susceptibility; this produced artifacts that may undermine the usefulness of partial flip for routine screening in certain parts of the brain. However, this susceptibility significantly improved the detection of intracranial hemorrhage when compared with the spin-echo sequence, particularly when combined with phase mapping of the partial-flip study.     

In situ saphenous vein bypass grafts: angiographic evaluation and interventional repair of complications

In situ saphenous vein grafts are being used with increasing frequency for bypass procedures involving the femoral and popliteal arteries. Complications of these procedures include anastomotic stenoses and persistent arteriovenous fistulae that may result in failure of the graft. Balloon angioplasty and embolotherapy with detachable balloons were employed successfully in three or four recent cases of patients with complications from in situ grafts. Tailored angiography is essential for evaluating in situ grafts, and interventional techniques are extremely useful for managing complications.     

术中大剂量放疗治疗局部复发头颈癌

该文旨在介绍Beth Israel医疗中心采用大剂量术中放疗(HDR-IORT)治疗复发头颈癌的经验。对2001-2010年间头颈癌局部复发接受大剂量HDR-IORT的患者进行回顾分析。结果,76例患者的87个部位在肿瘤切除后接受了治疗。术后2年控制率为62%。平均总生存期为19个月,其中42%的患     

Excess in the spring and deficit in the autumn in birth rates of male schizophrenic patients in Italy: Potential role of perinatal risk factors

Objective.?The aim of this study was to evaluate whether there were different seasonal variations of births in an Italian population of patients with schizophrenia, with other psychotic disorders, and with personality disorders than in the general population.

Methods.?Birth dates of 1270 patients admitted to one university psychiatric unit in Rome between 1990 and 2003, with a diagnosis of schizophrenia, other psychotic disorder (OPD) and personality disorder/cluster A (PD) were analyzed according to seasonal variation.

Results.?A significant excess of births in spring (with a peak in May) and a deficit in autumn (with a trough in October) was found in the sample of male schizophrenics (n = 506). No statistically significant variations were found in either the sample of female schizophrenics (n = 88) or in the combined sample with OPD and PD (n = 676).

Conclusions.?The findings serve to strengthen the existing hypotheses that schizophrenia is related to environmental factors acting on the development of the central nervous system intrauterinely.     

Evaluation of drugs for elimination of leukemic cells from the bone marrow of patients with acute leukemia

Relatively nonmyelotoxic drugs and drug combinations were investigated for their ability to eliminate malignant cells from human bone marrow. In vitro 90% inhibitory concentration (IC90) doses were established on granulocyte macrophage colony-forming units (GM-CFU) in culture of bone marrow by using the GM-CFU assay for the following drugs: 4- hydroperoxycyclophosphamide (4-HC), Adriamycin, L-asparaginase, bleomycin, hydrocortisone, VP-16, spirogermanium, Taxol, and vincristine. The leukemic cell kill efficiency of these drugs at IC90 doses was compared with that of 4-HC on acute lymphoid leukemia (ALL) cell lines by using the limiting-dilution assay. Under these conditions, no single drug was superior to 4-HC. To increase the in vitro effect in leukemic cell kill, combinations of vincristine with hydrocortisone, Adriamycin, VP-16, and 4-HC were investigated. Vincristine at 1 to 5 micrograms/mL increased the marrow cytotoxicity of hydrocortisone, Adriamycin, and VP-16, but it was protective (subadditive) with 4-HC. Vincristine and 4-HC in combination was additive to supraadditive on ALL cell lines, increased the leukemic cell kill by one to two logs above 4-HC alone at IC90 doses (P less than .05), and was not affected by the addition of excess marrow cells. The recommended doses for chemopurging in clinical studies are vincristine, 1 to 5 micrograms/mL, plus 4-HC, 5 micrograms/mL.     

Influence of obstetric complication severity on brain morphology in schizophrenia: an MR study

Introduction  The purpose of this study was to determine if a causal relationship exists between obstetric complications (OCs) severity and linear magnetic resonance (MR) measurements of brain atrophy in patients with schizophrenia. Materials and methods  Linear measurements of ventricular enlargement (bifrontal span, Evans ratio, and bicaudate ratio) and hippocampal atrophy (interuncal distance) were completed on MR images obtained in 47 patients with schizophrenia. Regression analysis was used to look at association with OCs severity, assessed by the “Midwife protocol” of Parnas and colleagues. The relationship between MR measurements and phenomenologic variables such as age at onset, illness duration, and exposure to antipsychotic medications was explored. The relationship between MR measurements, OCs severity, and symptom presentation was also investigated. Results  OCs severity was significantly associated with MR measurements of ventricular enlargement (bifrontal span, Evans ratio). As the severity of OCs increased, bifrontal span and Evans ratio increased. This effect was independent of age at onset, illness duration, or even antipsychotic treatment. Interestingly, bifrontal span, Evans ratio, and OCs severity score all showed a significant positive correlation with hallucinatory symptomatology. Conclusion  Although confirmatory studies are needed, our findings would support the idea that environmental factors, in this case severe OCs, might partly contribute to ventricular abnormalities in schizophrenia.