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31.
32.
Clinical phenotype of nephrogenic diabetes insipidus in females heterozygous for a vasopressin type 2 receptor mutation 总被引:2,自引:0,他引:2
Angenita F. van Lieburg Marian A. J. Verdijk Frans Schoute Marjolijn J. L. Ligtenberg Bernard A. van Oost Franz Waldhauser Maria Dobner Leo A. H. Monnens Nine V. A. M. Knoers 《Human genetics》1995,96(1):70-78
Nephrogenic diabetes insipidus (NDI) usually shows an X-linked recessive mode of inheritance caused by mutations in the vasopressin type 2 receptor gene (AVPR2). In the present study, three NDI families are described in which females show clinical features resembling the phenotype in males. Maximal urine osmolality in three female patients did not exceed 200 mosmol/kg and the absence of extra-renal responses to 1-desamino-8-d-arginine vasopressin was demonstrated in two of them. All affected females and two asymptomatic female family members were shown to be heterozygous for an AVPR2 mutation. Skewed X-inactivation is the most likely explanation for the clinical manifestation of NDI in female carriers of an AVPR2 mutation. It is concluded that, in female NDI patients, the possibility of heterozygosity for an AVPR2 gene mutation has to be considered in addition to homozygosity for mutations in the aquaporin 2 gene. 相似文献
33.
The phase behavior of isolated photoreceptor membrane lipids is further investigated by 31P-NMR, in view of earlier discrepant results [(1979) Biochim. Biophys. Acta 558, 330–337; (1982) FEBS Lett. 124, 93–99]. We present evidence that the discrepancy is due to bivalent cations. When resuspended in aqueous media at neutral pH in the absence of bivalent cations, the isolated photoreceptor membrane lipids largely adopt the bilayer configuration. However, upon addition of such cations (Ca2+ Mg2+) or when resuspended in their presence, the formation of other phases (hexagonal HII, lipidic particles) results. The rate of this transition depends on cation concentration and temperature. The transition is not easily reversed by addition of EDTA. Implications with regard to photoreceptor membrane structure and function need further study. 相似文献
34.
Sera from 146 cancer patients at risk for disseminated candidiasis were studied prospectively with immunodiffusion (ID), counterelectrophoresis
(CEP), and latex agglutination (LA) tests to determine their diagnostic value in the detection of antibodies to theCandida species. Serial serum samples, cultures, and clinical data were obtained after a malignancy was diagnosed. Patients were
classified into three groups (I, II, and III) on the basis of cultural, histological, and clinical evidence for superficial
(Group I) versus disseminated (Group III)Candida infection. Thirty-two of 78 patients (41%) in Group I had positive ID, CEP, and LA titers. In Group II, those patients lacking
histological confirmation of disseminated infection, 16 of 18 (89%) had positive titers. Thirty-six of 50 (72%) in Group III
were positive by all three tests. Heavy colonization of the gastrointestinal tract, without evidence of tissue invasion, produced
positive test results. Negative serologic tests were encountered in immunosuppressed patients with rapidly progressive candidiasis.C. krusei infections produced specific antibody titers detected by the homologous antigen but not byC. albicans antigen. Stable or decreasing LA titers were correlated with clinical improvement in patients receiving effective antifungal
therapy. 相似文献
35.
John Leo Abernethy Charles M. Lovett Anton Haddad Jeff D. Felberg 《Bioorganic chemistry》1982,11(3):251-261
Acylated crude papain has been shown to exert stereoselective behavior toward racemic hydrazides devoid of an amino acid residue, namely, (RS)-mandelic and (RS)-atrolactic hydrazides. These hydrazides functioned as nucleophiles to yield N1,N2-diacylhydrazines. Several achiral acylating agents for the enzyme were chosen, including Z-glycine, BOC-glycine, AOC-glycine, and hippuric acid. With the exception of hippuric acid as the acylating agent, the reaction product, in every instance for these achiral hydrazides, consisted of an excess of the (+)-N1,N2-diacylhydrazine. The relative rates of product formation for the mandelic hydrazides were considerably greater than for corresponding reactions with racemic atrolactic hydrazide. When chiral Z-l-alanine was employed to acylate crude papain, the stereoselective action was most pronounced, with the formation of a mixture of diastereoisomers consisting of 73% N1-(Z-l-alanyl)-N2-[(R)-mandelyl]hydrazine. The relative reactivities for the electrophiles was Z-l-alanine ? Z-glycine ? hippuric acid ? AOC-glycine > BOC-glycine. The hydrazides of (R)-, (S)-mandelic, and (RS)-atrolactic acids were prepared by conversion of the corresponding acids to their esters by means of a catalytic dehydrating agent and subsequent treatment with a methanolic solution of hydrazine. 相似文献
36.
John Leo Abernethy Gary F. Kuzmin Charles M. Lovett Jr. William A. Wilson 《Bioorganic chemistry》1980,9(4):440-449
Hydrazides of five N-acylamino acids have been used alone as substrates for papain catalysis to yield N1,N2-diacylhydrazines. With the exception of N-(benzyloxycarbonyl)(Z)-
-alanine hydrazide, they were very effective as both acylating agents of the enzyme and nucleophiles in attacking the enzyme-substrate intermediate. Although Z-
-alanine hydrazide was a minimal acylating agent, it was a satisfactory nucleophile. The most favorable reaction involved Z-
-alanine hydrazide in producing N1,N2-bis(Z-
-alanyl)hydrazine. When Z-
-alanine hydrazide was the substrate, this same chiral diacylhydrazine was formed along with meso N1-(Z-
-alanyl)-N2-(Z-
-alanyl)hydrazine. For the acylation step, the enzyme displayed powerful, essentially stereospecific, bias toward the
enantiomer. Once the thioester intermediate was formed, little preference was detected for attack by the enantiomers as nucleophiles. The most direct procedure for synthesis of substrates was conversion of Z-amino acids to their esters by means of dry HCl in an absolute alcohol. Treatment with hydrazine produced the hydrazides in excellent yield. 相似文献
37.
The effect of collection technique, anticoagulant, pH, glucose, and temperature on in vitro granulocyte function were studied after 24 hr of storage in the liquid state. Collection by CL did not adversely affect granulocyte function, however, cells collected by FL had accelerated loss of bactericidal activity and chemotactic response. Citrate anticoagulants provided better maintenance of bacteridical activity, NBT reduction, and chemotactic response than heparin, EDTA, and ion-exchange anticoagulants. Chemiluminescence was well maintained when the initial pH of the preservative solution (CPD plasma) was between 6.5 and 8.0 but maintenance of chemotaxis required pH of 7.0–7.5. Glucose concentrations of 80–1000 mg/dl provided adequate maintenance of chemiluminescence and chemotaxis. Bacterial killing was well maintained by storage at either 1–6 or 20–24 °C. Storage at 1–6 °C caused decreased chemotaxis, decreased ability of granulocytes to adhere and spread on a foreign surface, and a decreased intravascular recovery and shortened half-life after transfusion. Although short-term liquid storage may be practical, at present, granulocytes should be transfused as soon as possible after collection. 相似文献
38.
Mauricio Goihman-Yahr Leo Pine Maria Cecilia Albornoz Luis Yarzabal Maria Helena De Gomez Blanca San Martin Ana Ocanto Tulio Molina Jacinto Convit 《Mycopathologia》1980,71(2):73-83
Mild sonication was used to obtain single cell suspensions of Paracoccidioides brasiliensis. These cells were intact by microscopic criteria. Direct cell counts in a given inoculum and colony formation on various media were used to determine plating efficiency. Sonicated and nonsonicated cell suspensions were used to study plating efficiency and to estimate viability by means of vital dyes. Methylene blue, Erythrosin B, and Janus green were unreliable when used with P. brasiliensis, but vital dyes were accurate when tested with Candida albicans.Acridine orange gave more meaningful results of viability. Estimates of viability, however, changed significantly as a result of relatively minor alterations in the composition of the suspending medium.In initial experiments, the plating efficiency of P. brasiliensis was dismally low. It descended abruptly with increasing dilution of inoculum. Efficiency was much improved if horse serum was added to brain heart infusion plates or if glucose glycine yeast extract (GGY) plates were incubated at room temperature and mycelial colonies were counted. With the technique we report, current plating efficiency of sonicated suspensions is of the order of 25 %. Our results and procedures have an important bearing upon those studies concerned with in vitro killing of P. brasiliensis in suspensions or with isolating this fungus from clinical or environmental specimens. 相似文献
39.
Leo Pine Herman Gross Georgia Bradley Malcolm James R. George S. B. Gray C. Wayne Moss 《Mycopathologia》1977,61(3):131-141
Two strains of Histoplasma capsulatum were required to prepare maximum yields of H and of M antigen from histoplasmin. The antigens were separated and partially purified by a series of procedures yielding an overall recovery of 70 to 90% of the individual antigens. Stable products suitable for use as reference products were obtained when the final purification step employed DEAE-cellulose with phosphate buffer elution at increasing molarity and decreasing pH. A final step of purification of each antigen with slab acrylamide gel electrophoresis gave products which were highly reactive and specific in a variety of serological tests with sera from persons with proven cases of histoplasmosis and with natural infections of heterologous deep mycoses. These antigens were maximally active at concentrations of 2 to 16 g protein in the complement fixation, capillary precipitin, microimmunodiffusion, or immunoelectrophoresis tests; 0.5 g gave a maximum delayed cutaneous hypersensitivity reaction in homologously infected animals and caused no appreciable reaction in control animals. Although these antigens appeared to be specific when tested with sera from persons with natural infections, the M and H antigens demonstrated the presence of an additional antigen reacting with sera of rabbits immunized with cell membrane and cell particulate fractions of Blastomyces dermatitidis. After purification by electrophoresis, both the H and M antigens of some preparations showed some decomposition and loss of reactivity after storage at 5 C for more than six months. The overall results suggest that the purified H and M antigens of Heiner (12) have multiple serological reactivity and may function in precipitin reactions, complementfixing reactions, hemagglutination of formalin-fixed goose red blood cells, and as antigens for delayed cutaneous tests. 相似文献
40.
Billie J. Wilson Gloria Porter Helen Kocvara Gaila Leo Douglas M. Strong 《Primates; journal of primatology》1978,19(1):195-201
Optimal conditions for the rhesus monkey micro mixed lymphocyte system with multiple automated harvesting of samples were
evaluated. Parameters studied were cell concentration, length of culture period, methods of inactivation of cell populations,
supplementation of media, type of culture plates, and changes in the reactivity of cells from individual animals over an extended
time period.
This work was supported in part by Portland Veterans Administration Hospital, Portland, Oregon, and the General Research Support
Branch of the U.S. Public Health Service Grant RR00163, the Bureau of Medicine and Surgery, Navy Department, Work Unit No.
M4318. 01.007ABG2. The opinions or assertions contained herein are the private ones of the authors and are not to be construed
as official or reflecting the views of the U.S. Navy Department or the Naval service at large. The animals used in this study
were handled in accordance with the provisions of Public Law 89–54 as amended by Public Law 91–579, “Animal Welfare Act of
1970,” and the principles outlined in the “Guide for the Care of Laboratory Animals,” U.S. Department of Health, Education,
and Welfare Publication No. (NIH) 73-23. 相似文献