A novel mutation of presenilin 1 in familial Alzheimer's disease in Israel detected by denaturing gradient gel electrophoresis

Germline mutations in the presenilin 1 (PS1) gene apparently account for the majority of early-onset, familial Alzheimer's disease (AD). Using a mutation-screening strategy (denaturing gradient gel electrophoresis; DGGE), we analyzed a large family with early onset AD and seizures. The patients in this family showed a novel missense mutation in exon 5 of the PS1 gene (A to T change in codon 120, altering glutamine to aspartic acid). This novel mutation is located within the second hydrophilic domain of the molecule, a region not particularly involved in previously described germline mutations, and is of unknown biological significance. These results also demonstrate that DGGE can be used effectively to screen for mutations within this gene.     

High and low density water and resting, active and transformed cells

Melanoma is prone to spread to the brain and is the third most common source of intracranial metastasis. Patients usually present with signs and symptoms of increased intracranial pressure, a new focal neurologic deficit, or seizures. Contrasted magnetic resonance imaging (MRI) is the single most valuable imaging modality. Surgical therapy is the appropriate choice for single lesions that are accessible, especially if they are causing significant mass effect or are located in the posterior fossa. Patients with several intracranial metastases who undergo resection of all lesions may have a similar prognosis to those with single resected lesion. Stereotactic radiosurgery appears to provide good local control of small lesions. External beam radiotherapy may provide some benefit to patients, and is often used in conjunction with surgery or stereotactic radiosurgery. To date, chemotherapy has been limited because of chemo-resistance and drug delivery issues. Future directions for treatment may include local sustained delivery of either chemotherapy or immunoregulatory molecules.     

Vascular rejection post heart transplantation is associated with positive flow cytometric cross-matching

28 isolates of canine parvovirus type-2 (CPV-2) were obtained from dogs with hemorrhagic gastroenteritis in Italy. The antigenic structure of CPV-2 isolates was characterized, using four discriminating monoclonal antibodies. In addition, four vaccinal strains were examined. Similar to reports from Australia and the United Kingdom, a much higher prevalence of CPV-2a (25/28 isolates) was observed than the other variant type, CPV-2b (3/28 isolates). DNA fragments (2.2 kbp) of representative strains of CPV-2, CPV-2a and CPV-2b were amplified by the polymerase chain reaction (PCR) and the products were digested by the restriction enzymes (RE) RsaI, HpaII, HindIII and PvuII. The RvaI enzyme allows the differentiation of CPV-2 from CPV-2a and CPV-2b.     

Complex radiation diagnosis of retroperitoneal tumors and tumor-like states

The paper presents the results of complex radiation diagnosis of 118 cases of retroperitoneal tumors and tumor-like states, including 71 patients with tumors of mesenchymal origin, 7 with those of neurogenic origin, 6 with cysts, 9 with lymphogranulomatosis, 8 with retroperitoneal fibrosis, 12 with metastases, and 5 with hematomas. A wide complex of routine and up-to-date high-technology radiation diagnostic techniques was used to study the patients. The authors show the merits and dismerits of each technique. Greatest attention is given to the assessment of current techniques, primarily to ultrasonography (US) and computed tomography (CT). The studies have indicated that despite some specific features, many retroperitoneal tumors and tumor-like states bear similarities when various radiation methods are employed. The authors describe some syndromes which can be used to make a diagnosis. Despite the high capacities of US and CT in studying the normal and pathological structures of the human body, there are still great difficulties in differentiating different abnormalities when even the latest techniques are applied, these cases need paracentic aspiration or open biopsy.     

A prospective study of the efficacy of the physician order form for life-sustaining treatment

OBJECTIVES: The Physician Orders for Life-Sustaining Treatment (POLST), a comprehensive, one-page order form, was developed to convey preferences for life-sustaining treatments during transfer from one care site to another. This study examined the extent to which the POLST form ensured that nursing home residents' wishes were honored for Do Not Resuscitate (DNR) and requests for transfer only if comfort measures fail. DESIGN: The study used chart record data to follow prospectively a sample of nursing home residents with the POLST. SETTING: Eight geographically diverse, long-term, adult-care facilities in Oregon in which the POLST was in use. PARTICIPANTS: Nursing home residents (n = 180), who had a POLST recording DNR designation and who indicated a desire for transfer only if comfort measures failed, were followed for 1 year. MEASUREMENTS: For all subjects: treatment and disposition after significant health status changes; orders for narcotics and for provision or limitation of aggressive interventions. For hospitalized subjects: diagnosis, medical interventions, and DNR orders. For those who died: cause and location of death, life-sustaining treatments attempted, and comfort measures provided. RESULTS: No study subject received CPR, ICU care, or ventilator support, and only 2% were hospitalized to extend life. Of the 38 subjects who died during the study year, 63% had an order for narcotics, and only two (5%) died in an acute care hospital. A total of 24 subjects (13%) were hospitalized during the year. Hospitalized subjects' mean length of stay was 4.9 days, and the mean rate of hospitalizations for all subjects was 174 per 1000 resident years. In 85% of all hospitalizations, patients were transferred because the nursing home could not control suffering. In 15% of hospitalizations (n = 4), the transfer was to extend life, overriding POLST orders. CONCLUSIONS: POLST orders regarding CPR in nursing home residents in this study were universally respected. Study subjects received remarkably high levels of comfort care and low rates of transfer for aggressive life-extending treatments.