The Occurrence of Diastase in the Cerebro-spinal Fluid.
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Biomedical subjects
Publications and source records attributed to I Cohen.
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We investigated the family of a 3-year-old boy with manifestations of the Martin-Bell syndrome (MBS). His 17-year-old cousin had classic manifestations of MBS and was fragile X [fra(X)] positive. The 3-year-old boy was fra(X) negative. Linkage analysis with probes flanking the fra(X) region indicated that these cousins had the same X chromosome inherited from a normal grandfather. The DNA and cytogenetic analyses suggest that limitations in the ability to detect the fra(X) mutation cytogenetically may be responsible for fra(X)-negative MBS; or, alternatively, that a crossover occurred between a locus determining the MBS phenotype and one determining fra(X) expression.
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We present a case of inflammatory pseudotumor of the liver (IPL), a rare benign hepatic lesion. A 66-year-old woman with fever, and right abdominal pain and mass underwent abdominal sonography and computed tomography. Both showed multiple hepatic masses. Ultrasound guided needle liver biopsy showed a dense chronic inflammatory lesion with innumerable foamy histiocytes and spindle fibroblasts consistent with IPL. She improved with conservative treatment. Clinical, pathologic, and imaging findings at IPL are reviewed.
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The efficacy of excitatory synapses terminating on cortical and hippocampal pyramidal cells may be persistently depressed as well as potentiated. Homo-synaptic long-term depression (LTD) seems to be triggered by an entry of calcium into a post-synaptic cell less than that needed to initiate long-term potentiation (LTP). Theoretical work predicted, and experimental studies confirmed, that moderate elevations of calcium initiate LTD via a cascade of biochemical interactions involving calcium-dependent phosphatases. Genetically modified animals confirmed the prediction of a sliding threshold that defines the limit between LTD and LTP. While mechanisms for the initiation of LTD are quite well established, it remains unclear whether pre- or post-synaptic mechanisms, or both, are involved in its maintenance. A role for LTD in processes of learning and forgetting in the adult animal remains to be firmly established. It seems probable, however, that a persistent reduction in synaptic weight is a basic process used in the establishment and refinement of neuronal circuits during development.
Several types of beliefs have been hypothesized to be associated with obsessive-compulsive disorder (OCD), including responsibility for harm, need to control thoughts, overestimates of threat, intolerance of uncertainty, and beliefs about the consequences of anxiety and capacity to cope. The present study compared 62 subjects with OCD, 45 with other anxiety disorders (AD) and 34 controls, using 3 measures of OCD-related beliefs. OCD subjects scored higher than AD and control samples on 2 general belief measures. A closer analysis of specific belief domains indicated that OCD subjects scored higher than AD and control subjects on all 6 specific belief domains (responsibility, control, estimation of threat, tolerance of uncertainty, beliefs about the consequences of anxiety, and the capacity to cope). Four of the 6 domains showed reasonable convergent and discriminant validity with measures of OCD symptoms compared to other psychopathology; anxiety and coping beliefs were the exceptions. In regression analyses, cognitive measures contributed significant explanatory power beyond mood state and worry with uncertainty predicting severity of OCD symptoms above all other belief domains. Further research on OCD-relevant belief domains in etiology, maintenance and treatment is warranted.
BACKGROUND: Prior angiographic study has shown that the patterns of ST-segment depression during exercise do not provide localizing information of the responsible coronary lesion. However, little is known regarding the ability of exercise-induced ST-segment displacement to localize myocardial perfusion defects. METHODS AND RESULTS: We studied 552 consecutive patients without prior myocardial infarction who had reversible perfusion defect in one vascular territory on rest 201Tl/exercise 99mTc-labeled sestamibi dual-isotope myocardial perfusion single photon emission computed tomography (SPECT) and ischemic ST depression or elevation during exercise. Of these, 192 patients had angiographically documented coronary artery disease (CAD). Two hundred thirty-two patients had maximal ST depression in anterior leads, 247 patients had maximal ST depression in inferior leads, and 45 patients had similar maximal ST depression in both anterior and inferior leads. Twenty-eight (5%) patients had ST elevation with absent Q waves. In patients with maximal ST depression in anterior leads, perfusion defects were found in the territory of the left anterior descending coronary artery (LAD) in 30%, in the territory of the right coronary artery (RCA) in 52%, and in the territory of the left circumflex coronary artery (LCX) in 18%. In patients with maximal ST depression in inferior leads, perfusion defects were found in RCA territory in 44%, in the LAD territory in 42%, and in the LCX territory in 14%. Compared with exercise ST depression, the less common finding of ST elevation did provide accurate localization of perfusion defects. When ST elevation was greatest in the anterior leads, 96% of patients had LAD territory defects. When ST elevation was most prominent in the inferior leads, 100% patients had RCA territory defects. Data of coronary angiograms demonstrated that myocardial perfusion SPECT correctly identified the most stenotic coronary disease for LAD (94%), LCX (72%), and RCA (75%). CONCLUSIONS: The findings of this study indicate that the site of maximal ST-segment depression does not identify the localization of myocardial perfusion defects. However, the less common finding of exercise-induced ST-segment elevation does predict localization of myocardial ischemia.
The aim of this study was to describe the ultrasonographic and Doppler flow attributes of granulosa cell tumors (GCT) of the ovary and to compare these attributes to those of epithelial tumors of the ovary. Among 13,475 gynecological patients who were scanned in our ultrasound unit between 1992 and 1996, seven patients had GCT. The final diagnosis was confirmed, postoperatively, by pathologic examination and by applying the WHO classification. The ultrasonographic findings of the GCT patients were compared to those recorded in a second group of 29 patients who had been diagnosed with epithelial tumor of the ovary. The sonographic appearance of GCT of the ovary was semi-solid and the endometrium was thick in six of the seven patients. Doppler flow studies of vessels within or in the contour of the lesions showed the resistive index (RI) to be 0.448 +/- 0.018. The epithelial tumors had a similar appearance and flow pattern except for the presence of ascites in one-third of the patients. Ultrasound scanning, including color Doppler flow, did not contribute data that could assist in differentiating between GCT and epithelial tumors of the ovary.
Of 113 consecutive ovarian cancer patients identified in a gynecologic clinic in a major academic medical center in San Francisco, 41 patients were successfully contacted, were eligible, and participated in a telephone survey. We contacted women identified consecutively in the clinic database as having ovarian cancer and sent a letter introducing our research team and asking for help. Members of the research team then contacted the women to conduct the telephone interviews. Fifty-one percent (95% CI 35-67) of the women had taken herbs sometime since they were diagnosed with ovarian cancer. Most herb uses occurred concurrently with chemotherapy. Only 12% (95% CI 4-26) used an herbalist or other health practitioner for guidance in herb use. Only one woman took herbs instead of chemotherapy. A large number of women attending our practice in the San Francisco Bay area use herbs as complementary medicine during their cancer treatment.
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The hemostatic effect of recombinant (r)-aprotinin was studied in 41 patients undergoing cardiopulmonary bypass surgery. Flow cytometry was used to measure the expression of glycoprotein 1b (GP1b) and alpha-granule membrane protein 140 (GMP-140) on platelets. Additional parameters studied were beta-thromboglobulin (beta-TG), fibrinogen, fibrinopeptide A, plasminogen, platelet count, and the amount of postoperative chest tube drainage. Chest tube drainage was significantly less in the r-aprotinin-treated patients (p < 0.001). The percentage of platelets expressing GMP-140 increased to 9.7% in r-aprotinin patients and to 12.1% in controls during the surgery. The difference between both groups was not significant. Both values returned to baseline the next day. GP1b expression decreased in both groups by 33-38% during the surgery and returned to baseline the next day. GP1b expression and the plasma concentrations of fibrinogen, fibrinopeptide A, beta-TG, and plasminogen were not different in r-aprotinin and control patients. We conclude that r-aprotinin reduces blood loss during cardiopulmonary bypass surgery, but the primary mechanism is likely not through a protective effect on platelets.
A young adult with no prior history of affective disease suffered the onset of a rapid cycling bipolar illness, marginally responsive to psychotropic medications, following a mild closed-head injury, and persisting after the cognitive effects of the injury had resolved. A concurrence of findings on the neurological examination, neurobehavioural examination, SPECT scan, EEG and neuropsychological test battery suggested the presence of a diffuse cerebral injury with a predominance of left frontotemporal findings. This case demonstrates that a severe and disabling mood disorder may follow a mild head injury, and that its course may be independent of cognitive impairment and recovery.
A 7-month-old infant with typical features of diencephalic syndrome (DES) associated with a hypothalamic mass, most probably a glioma, was treated with chemotherapy. The tumor showed clear shrinkage, but after more than 2 years regrowth was noted. During the treatment period the child regained normal growth and became free of symptoms. As radiation therapy, especially at a young age, has significant adverse effects and a neurosurgical approach to the diencephalic region also has the potential to cause significant sequelae, a chemotherapeutic option, when it exists, is preferred. Thus, in an infant in whom a glioma is suspected to be the cause of the DES, based on the clinical picture and the neuroimaging appearance, chemotherapy should be considered the primary therapeutic modality. Even if its effect is temporary, its use is well justified. The most appropriate treatment protocol still needs to be determined.
A 39 year-old man presented for surgery with epigastric pain, tachycardia, hypotension and a progressive decrease of hemoglobin due to blood loss. Immediate abdominal ultrasonography followed by prompt paracentesis revealed massive intraperitoneal hemorrhage. During emergency laparotomy, a linear, actively bleeding rupture of an enlarged spleen was found and splenectomy was performed. The patient survived and the post-operative course was uneventful. Histopathology of the spleen as well as bone marrow biopsy confirmed the diagnosis of T-Cell lymphoma. Chemotherapy was initiated 3 weeks after surgery. To the best of our knowledge, this is the first reported case of previously undiagnosed T-Cell lymphoma presenting as pathologic rupture of the spleen.
In this retrospective study, the efficacy of screening for and treating cervical Chlamydia trachomatis infection was evaluated in a pregnant population at increased risk for chlamydial infection. Over a 2 1/2-year period, 5.75% (338) of the 5,875 women tested were found to be infected with this organism. Of the 323 women patients available for follow-up, 76% (244) were successfully treated and 24% (79) remained infected throughout their pregnancies. Forty (12%) patients became infected during pregnancy, while 26 (8%) were reinfected during pregnancy, despite treatment with erythromycin. Twenty-seven (8%) patients had their first antenatal visit and cervical swab less than a week before delivery. The gestational age at which the first cervical chlamydial swab was obtained was significantly more advanced in patients who remained infected (30.23 +/- 6.2 weeks) than those who were successfully treated (22.15 +/- 7.66 weeks; P = 0.00001). The data suggest that in a pregnant population considered to be at increased risk for C trachomatis infection: (1) there is a subgroup of patients with a high risk of remaining infected or becoming reinfected with C trachomatis during pregnancy despite treatment with erythromycin and (2) repeated prenatal testing and treatment of those infected is necessary to detect and eradicate maternal chlamydial infection.