Female patient showing hypohidrotic ectodermal dysplasia and immunodeficiency (HED-ID).
Explore the source record for details and available documents.
Ectodermal Dysplasia↗
Biomedical subjects
N Shimasaki
Publications and source records attributed to N Shimasaki.
[Two cases of successful treatments with steroid for local and systemic hypersensitivity reaction following intravesical instillation of Bacillus Calmette-Guerin].
We have found steroid pulse therapy to be effective and safe for local and systemic adverse reactions of BCG therapy. Two cases are reported. Case 1: A 57-year-old woman with initial recurrence of urinary bladder carcinoma was treated with transurethral resection. The histopathological findings were transitional cell carcinoma (TCC), G2 > G1, pT1a. To prevent a second recurrence, she was administered Bacillus Calmette-Guerin (BCG) instillation therapy: 80 mg of BCG, (Tokyo strain) suspended in 40 ml of normal saline, instilled into her bladder weekly. After the fifth week of instillation, she was found to have a cough, sputum, edema of the eyelids, congestion of palpebral conjunctive, severe pain on micturition and pollakisuria. Although she was administered antituberculus, antibiotics and antiallergic drugs, all sign and symptoms were aggravated. Blood, urine and sputum cultures remained negative for mycobacterium. She was later diagnosed as having hypersensitive reactions against BCG and treated with steroid pulse therapy. The signs and symptoms mentioned above were decreased immediately and disappeared after a week. Case 2: A 76-year-old man with initial recurrence of urinary bladder carcinoma was treated with transurethral resection. To prevent a second recurrence, he was instilled the BCG six (6) times. Although no adverse reaction was observed, urinary cytology remained positive (class V) and small papillary tumor was detected at the dome of the bladder. Transurethral biopsy was then performed. The histopathological findings showed TCC, G3, CIS on the dome of bladder. Then he was again administered the same BCG instillation therapy. After the fifth instillation, he complained of severe pain of micturition, pollakisuria and dysuria. Although he was administered antibiotics and antiinflammatory drugs, all signs and symptoms were aggravated. Urine culture remained negative for mycobacterium. He was diagnosed as having hypersensitive reactions against BCG and was treated with two times of steroid pulse therapy. The signs and symptoms mentioned above were decreased immediately and disappeared after the second steroid pulse therapy.
Adjuvants, Immunologic↗
Yeast transcript elongation factor (TFIIS), structure and function. II: RNA polymerase binding, transcript cleavage, and read-through.
The transcriptionally active fragment of the yeast RNA polymerase II transcription elongation factor, TFIIS, comprises a three-helix bundle and a zinc ribbon motif joined by a linker region. We have probed the function of this fragment of TFIIS using structure-guided mutagenesis. The helix bundle domain binds RNA polymerase II with the same affinity as does the full-length TFIIS, and this interaction is mediated by a basic patch on the outer face of the third helix. TFIIS mutants that were unable to bind RNA polymerase II were inactive for transcription activity, confirming the central role of polymerase binding in the TFIIS mechanism of action. The linker and zinc ribbon regions play roles in promoting cleavage of the nascent transcript and read-through past the block to elongation. Mutation of three aromatic residues in the zinc ribbon domain (Phe269, Phe296, and Phe308) impaired both transcript cleavage and read-through. Mutations introduced in the linker region between residues 240 and 245 and between 250 and 255 also severely impaired both transcript cleavage and read-through activities. Our analysis suggests that the linker region of TFIIS probably adopts a critical structure in the context of the elongation complex.
Models, Molecular↗
Effects of ethanol feeding on liver, kidney and jejunal membranes of micropigs.
The micropig model of chronic alcoholism was used to study the relationship of lipid composition and physical properties in three different tissue membranes from the same animals. Ethanol feeding reduced membrane anisotropy, as measured with the diphenylhexatriene probe, in liver plasma and kidney brush-border membranes but not in jejunal brush-border membranes. Preincubation with ethanol reduced anisotropy in each of the three control membranes, whereas all three membranes from the ethanol-fed group were relatively tolerant to the acute effect of ethanol. In liver and kidney membranes, ethanol feeding increased levels of linoleic (18:2 omega 6) acid and decreased levels of arachidonic (20:4 omega 6) and docosahexaenoic (22:6 omega 3) acids and their specific double-bond positions, consistent with reduced activities of delta 6 and delta 5 fatty acid desaturases. In liver and kidney membranes, anisotropy parameters and the acute effect of ethanol correlated inversely with levels of linoleic acid and directly with levels of arachidonic and docosahexaenoic acids and their specific double bonds. Levels of docosahexaenoic acid correlated with the acute effect of ethanol in all three membranes. Phospholipid fatty acid profiles were similar in jejunal brush-border membranes and terminal bile samples, suggesting that the effects of ethanol on jejunal fatty acids and physical properties are modulated by intraluminal biliary phospholipids. The effect of ethanol on anisotropy could not be attributed to changes in membrane cholesterol/phospholipid ratios. These studies affirm the value of this new animal model of chronic alcoholism and provide comprehensive evidence for the central role of fatty acid desaturation in the membrane-associated effects of ethanol exposure.
Administration, Oral↗