A case of Rubinstein--Taybi syndrome. Notes on some unusual manifestations, and an evaluation by Rubinstein.
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Biomedical subjects
Publications and source records attributed to A Friedman.
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The stimuli in a simple attribute-identification task were geometric designs or their verbal descriptions. Presentation was visual or auditory, in a constant order or a mixed order that varied the serial position of the relevant dimension (the dimension providing the relevant attribute) on each trial. Constant-auditory problems whose relevant dimensions were first or last were solved better, while mixed-auditory problems were solved least well, and visual problems were solved best overall with no serial-position effects. However, the results of an experiment in which the stimuli were noun pairs suggest that visual presentation is advantageous only if it produces a nonverbal code from which subjects can recover attributes lost from their descriptions during rehearsal.
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To study the effects of continous low doses of antibacterial agents after eradication of bacteriuria in patients with recurrent urinary tract infection, 31 patients with documented recurrent urinary tract infection were allocated alternately to treatment with either co-trimoxazole (400 mg of suphamethoxazole and 80 mg of trimethoprim each night) or methenamine hippurate (1 g each night). The majority of patients (79%) had underlying radiological abnormalities of the renal tract, but normal renal function (the mean serum creatinine level was 1.05 mg per 100 ml). During the study the incidence of bacteriuria and pyuria was significantly lower in the co-trimoxazole-treated group. Patients receiving co-trimoxazole also had fewer acute clinical episodes of urinary tract infection than patients receiving methenamine hippurate. There were no significant side effects from either drug. Two patients with frequent recurrences of infection developed renal calculi. No change in creatinine clearance or maximum urinary concentrating ability was observed over a follow-up period of four to 30 months (mean 10.4 months). Co-trimoxazole is an effective agent in the prophylaxis of urinary tract infection in this highly susceptible group of patients, and in the doses used was superior to methenamine hippurate.
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Two infants inhaled eggshell fragments. The first aspirated a small fragment into the upper part of the trachea and resuscitation attempts resulted in descent of the foreign body to the right lower lobe bronchus. Two attempts at bronchoscopy were unsuccessful and spontaneous disintegration occurred. The second infant aspirated an eggshell fragment to the entrance of the larynx where it was removed by laryngoscopy. Laryngeal or tracheal foreign body in infants under 1 year of age are rare, and the diagnosis and removal are difficult.
The long-term effects of the vitamin D metabolite, 25-hydroxycholecalciferol (25-HCC), were evaluated in 2 children with hypophosphatemic vitamin D-resistant rickets. Serial total balance studies demonstrated an apparent lack of correlation between the effects of the vitamin on intestinal absorption of calcium and phosphorus and both the onset of healing in 1 of the 2 patients treated with 5,000 to 7,500 u of the metabolite and the absence of demonstrable radiologic improvement in another patient in whom the final dosage was 20,000 u. per day. At first, the metabolite induced a positive calcium balance in both patients resulting largely from a reduction in intestinal calcium excretion. Despite a continued positive calcium balance, 1 of the 2 patients did not demonstrate further healing, while in the other patient healing was noted even when total calcium balance was negative. Serum phosphate levels did not return to normal in either patient, nor was phosphate excretion altered by 25-HCC. Serum alkaline phosphatase remained elevated in both. Serum immunoassayable parathyroid hormone levels were consistently normal to high-normal in the 2 patients throughout more than 24 months of observation. No instances of hypercalcemia and only occasional hypercalciuric episodes were noted.
A device is described which is highly efficient in detecting and classifying ventricular ectopic beats. This instrument may have a significant role in patient monitoring. The system is based on analysis of a 5 electrode orthogonal system with comparison of QRS wave forms with a stored normal wave form. The design was based on a test derived from 26 patients and evaluated further on long recordings of 16 other patients. Results indicate that the device is highly reliable in QRS detection and in detection of ventricular ectopic beats. The problem of artefacts due mainly to patient movement is held within resonable limits.
A 7-year-old boy suffering from aortic regurgitation and mitral stenosis and regurgitation was admitted with endocarditis caused by Rhodotorula pilimanae and was treated successfully with orally administered antifungal agent, namely 5-fluorocytosine (5-FC). A dose of 100 mg per kg body weight, divided into four equal parts, was prescribed. After a prolonged febrile period his temperature dropped to normal on the fourth day of 5-FC therapy. Review of the published reports disclosed few cases of endocarditis due to Rhodotorula spp. and this case seems to be the first treated with 5-FC. Follow-up in one year, after discharge from the hospital, revealed no evidence of relapse.
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A 3-year-old boy with systemic mastocytosis has been observed since the age of 4 months when he was first diagnosed as suffering from urticaria pigmentosa. Involvement of skin, liver, spleen and bones was observed. The electron microscopy of skin and liver revealed varied alterations in the morphology of mast cells. The most important findings were irregularly-shaped cells and unusual long and interdigitated cytoplasmic villi, with consequent aggregation of mast cells which was more prominent in the dermis. Proliferation and accumulation of mitochondria in one part of the cell and deeply indented nuclei were frequent. The problem, whether the morphological changes encountered--especially the complex interdigitation of villi--should be interpreted as a sign of expected neoplastic development, is discussed.
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Temperature-sensitive (ts) mutants of vesicular stomatitis virus belonging to the RNA(-) complementation group IV were investigated under various conditions to study both their RNA and protein syntheses. In infected cells maintained at 39.2 C, viral RNA species were recovered only in the 13 to 15S region of the gradient in an amount depending on the ts mutant used. In the presence of cycloheximide at 39.2 C, the primary transcription was deficient, especially for 28S mRNA production. When mutant-infected cells were shifted to nonpermissive temperature, a shutoff of 28S mRNA synthesis occurred as a general feature. On the contrary under this condition, the two mutants chosen, ts IV100 and ts IV111, behaved very differently in their 13 to 15S and 38S RNA production. However, treatment with cycloheximide at the time of the transfer to 39.2 C resulted in a similar recovery of 13 to 15S RNA in both mutants, whereas the 28S remained very depressed. The viral proteins synthesized by cells infected with the same two mutants also showed a distinct pattern, especially regarding the N protein; a correlation between 38S RNA and protein N syntheses was tentatively drawn. The whole set of data suggested that the lesion in group IV mutants concerned a viral structural protein required for the process of in vivo transcription and which probably intervened in the replication mechanism.
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