Biomedical subjects
Publications and source records attributed to M Mendel.
ylxL was found to be the last gene of the fla/che operon in Bacillus subtilis and is cotranscribed with the gene for the flagellum-specific alternate sigma factor, sigma(D). The ylxL gene was disrupted by insertional mutagenesis, and the resultant mutant strain was found to be compromised for sigma(D)-dependent functions.
Methylenetetrahydrofolate reductase (MTHFR) is one of the main regulatory enzymes of homocysteine metabolism. Previous studies revealed that a common mutation in MTHFR gene C677T is related to hyperhomocysteinemia and occlusive vascular pathology. In the current study, we determined the prevalence of a newly described mutation in the human MTHFR gene A1298C, and the already known C677T mutation, and related them to plasma total homocysteine and folate concentrations. We studied 377 Jewish subjects, including 190 men and 186 women aged 56.8 +/- 13 y (range 32-95 y). The frequency of the homozygotes for the A1298C and the C677T MTHFR mutations was common in the Jewish Israeli population (0.34 and 0.37, respectively). Subjects homozygous (TT) for the C677T mutation had significantly greater plasma total homocysteine concentrations (P < 0.01) than subjects without the mutation (CC). Homozygotes (CC) for the A1298C mutation did not have elevated plasma total homocysteine concentrations. Our study indicated that subjects with the 677CC/1298CC genotype had significantly lower concentrations (P < 0. 05) than those with a 677CC/1298AA genotype. Neither mutation (the A1298C and the C677T) was associated with established cardiovascular risk factors such as hypertension, elevated total cholesterol or body mass index.
BACKGROUND: Endosonography is a diagnostic tool for the examination of tumors of the oral cavity. The pharynx is usually not assessable for conventional endosonography due to problems with the placement of the probe in deeper areas of the pharynx. PATIENTS: A fingertop ultrasonography probe was combined with a stick allowing the user to locate the probe in deeper areas of the pharynx. The stick had two flexible joints and a device for attaching the probe in the front. We evaluated 48 patients with tumors of the posterior wall of the pharynx (n = 6), lateral wall of the pharynx (n = 7), tonsil (n = 17), sinus piriformis (n = 13), and nasopharynx (n = 5) during preoperative tumor endoscopy under general anesthesia. Thirty-two patients suspected of having a tonsillar abscess were examined under local anesthesia. RESULTS: The evaluation of the tumor dissemination and the determination of the relationship between the tumor and the internal carotid artery was excellent for tumors of the posterior and lateral wall of the pharynx. The investigation of tumors of the sinus piriformis and the nasopharynx was difficult and tumor growth could not be determined normally with endosonography. In four cases, retropharyngeal lymph nodes could be detected. The sensitivity for the diagnosis of tonsillar abscesses was 84%. CONCLUSION: Endosonography of the deeper areas of the pharynx seems to be a useful instrument for investigating growth of tumors at the lateral and posterior wall of the pharynx. Endosonographic results might be helpful for deciding between endoscopic and external approaches. Endosonography is not sufficiently sensitive for diagnosing tonsillar abscesses, but might be helpful in clinically difficult cases.
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Accumulating evidence indicates either a primary or secondary cortical dysfunction in the language-dominant hemisphere of autistic children. In this study, the central auditory function of six autistic subjects was assessed experimentally using a battery of tests which included the Staggered Spondaic Word Test, the Competing Environmental Sound Test, and monaural hearing tests, as well as supplementary measures of language and handedness. The autistic subjects ranged from 8 to 24 years in age and displayed a wide range of language abilities and severity of echolalia. The results showed that all the subjects had normal hearing on the monaural speech tests; however, there was indication of central auditory nervous system dysfunction in the language dominant hemisphere, inferred from the dichotic tests, for those subjects displaying echolalia. Essentially normal dichotic test results were obtained for those subjects who were previously diagnosed as autistic but were not longer echolalic. One subject who received a year of intensive language treatment was assessed periodically throughout the year to chart changes in performance on the test of central auditory function for dichotic stimuli. This subject showed changes in the dichotic test of central auditory function which were consistent with the language improvement shown during the year. For each subject, the locus of central auditory dysfunction indicated by the assessment measures was consistent with the characterized language deficits. The results are discussed from a neurolinguistic framework in an effort to delineate a neurogenic etiology of autistic language deficits.
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We describe a 74-year-old woman with extensive pelvic leiomyosarcoma presenting with uncharacteristic musculoskeletal pain of the lumbosacral region and left lower extremity. Hemipelvectomy was considered the treatment of choice, and a model for a pelvic prosthesis was constructed based on imaging analysis. However, the tumour (and the complaints) responded surprisingly well to a combined treatment regimen including superselective arterial catheter embolization, which led to tumour regression to such a degree that aggressive surgical treatment became unnecessary.