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61.
Alexander Yu Donald Turbiville Fangling Xu Joseph W. Ray Allison D. Britt Pamela J. Lupo Sunil K. Jain Karen E. Shattuck Sally S. Robinson Jianli Dong 《American journal of medical genetics. Part A》2019,179(11):2178-2189
Duplications in the 22q11.2 region can cause 22q11.2 duplication syndrome and encompass a variety of phenotypes including developmental delays, facial abnormalities, cardiovascular defects, central nervous system delays, and other congenital abnormalities. However, the contribution of these contiguous duplicated regions to the clinical phenotypes has not been fully elucidated. In this study, we identified nine patients carrying different 22q11.2 microduplications detected by chromosomal microarray. Of these patients, seven pediatric patients presented with various clinical features including two neonate cases died shortly after birth, and two healthy adults. We examined region specific genotype–phenotype associations and found unpredictability associated with 22q11.2 duplications in these nine patients. 相似文献
62.
63.
Transcytosis and catabolism of antibody 总被引:10,自引:0,他引:10
This review describes the evolution of our knowledge of the transmission of immunoglobulin G (IgG) from mother to infant and
the factors which regulate the persistence of IgG in the circulation. These apparently unrelated processes involve the same
Fc receptor, FcRn (n=neonatal). FcRn appears to carry out these diverse roles by binding to IgG and then either transporting
the bound IgG across cells (transcytosis) or recycling its cargo back to the cell surface (control of catabolism). IgG that
is taken up by cells in the absence of binding to FcRn undergoes degradation. Thus, FcRn is the “protective” receptor that
servesto maintain IgG homeostasis and deliver IgGs across cellular barriers. 相似文献
64.
D. J. Fretland C. P. Anglin M. Bremer P. Isakson D. L. Widomski S. K. Paulson S. H. Docter S. W. Djuric T. D. Penning S. Yu J. P. McKearn 《Inflammation》1995,19(2):193-205
Leukotriene B4 (LTB4) and 12(R)-hydroxyeicosatetraenoic acid [12(R)-HETE] are proinflammatory products of arachidonic acid metabolism that have been implicated as mediators in a number of inflammatory diseases. When injected intradermally into the guinea pig, LTB4 and 12(R)-HETE elicit a dose-dependent migration (chemotaxis) of neutrophils (PMNs) into the injection sites as assessed by the presence of a neutrophil marker enzyme myeloperoxidase. SC-41930 {7-[3-(4-acetyl-3-methoxy-2-propylphenoxy)propoxyl]-3,4-dihydro-8-propyl-2H-1-benzopyran-2-carboxylic acid}, a first-generation LTB4 receptor antagonist, inhibited the chemotactic actions of LTB4 when given orally with an ED50 value of 1.7 mg/kg. The second-generation LTB4 receptor antagonist, SC-53228 [(+)-(S)-7-(3-{2-(cyclopropylmethyl)-3-methoxy-4-[(methylamino)carbonyl]phenoxy} propoxy)-3,4-dihydro-8-propyl-2H-1-benzopyran-2-propanoic acid], inhibited LTB4-induced chemotaxis when given intragastrically with an ED50 value of 0.07 mg/kg. Furthermore, SC-53228 inhibited 12(R)-HETE-induced granulocyte chemotaxis with an oral ED50 value of 5.8 mg/kg. When dosed orally over a range of 0.03–100 mg/kg, SC-53228 gaveC
max plasma concentrations of 0.015–41.1g/ml. SC-53228 inhibited LTB4-primed membrane depolarization of human neutrophils with an IC50 value of 34 nM. As a potent LTB4 receptor antagonist, SC-53228 may well have application in the medical management of disease states such as asthma, rheumatoid arthritis, inflammatory bowel disease, contact dermatitis, and psoriasis, in which LTB4 and/or 12(R)-HETE are implicated as inflammatory mediators. 相似文献
65.
Daniel L. Hamilos MD John J. Oppenheimer MD Harold S. Nelson MD Sally Wenzel MD Sue Driscoll RN Richard F. Lockey MD David B. K. Golden MD Leland Fan MD Ralph J. Sanks RPh S. Allen Bock MD John W. Yunginger MD Donald Stevenson MD Timothy Sullivan MD Thomas Corbridge MD 《The Journal of allergy and clinical immunology》1993,91(6)
These guidelines are intended to reduce the potential for serious or life-threatening reactions when clinical research is conducted. The following issues were addressed: identifying the risks involved in the research, providing adequate safeguards in the protocol design and during withholding of medication, anticipating risks, minimizing the chances for human error, providing resuscitative equipment sufficient to deal with the most serious anticipated life-threatening reactions, planning for medical support in case of a life-threatening emergency, and optimizing the use of medical personnel and expertise to handle emergency situations. The guidelines also discuss important general issues about protocol design and implementation and the human subject consent form, which should facilitate the approval of protocols by the governing institutional review board.The guidelines are not meant to be inflexible or applicable to all research situations. However, it is our hope that they will allow for clinical research to be conducted in a manner that affords the research subjects a high degree of protection from unnecessary and possibly fatal injuries. 相似文献
66.
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68.
Sam Tsemberis E. Sally Rogers Eleni Rodis Patricia Dushuttle Vicki Skryha 《Journal of community psychology》2003,31(6):581-590
Provision of residential services to people with mental illness has assumed increasing importance since deinstitutionalization and as community‐ based services have increased. This large‐scale multisite study of housing programs specifically for persons with mental illness examines one of the factors that lead to successful residential tenure for persons with serious mental illness. To date, the Lehman Quality of Life Scale has been used primarily to assess satisfaction with housing in studies of residential services. This article reports on a new measure of housing satisfaction. This new 25‐item instrument was developed, field tested in a variety of housing settings across the country, and analyzed for reliability and validity by a group of housing researchers and clinicians. The implications of using this instrument for future evaluation and research on housing for persons with mental illness are examined. © 2003 Wiley Periodicals, Inc. J Comm Psychol 31: 581–590, 2003. 相似文献
69.
Fine-needle aspiration (FNA) cytology and immunophenotyping by flow cytometry (FCM) are increasingly being used for diagnosing and subclassifying lymphoma in the REAL/WHO classification. Herein, we report a case of primary mediastinal large B-cell lymphoma (PMBL), a subtype of diffuse large B-cell lymphoma in the WHO classification, diagnosed by FNA cytology in conjunction with FCM. This, to our knowledge, has not previously been reported. A 57-yr-old woman presented with bilateral axillary lymphadenopathy and intermittent shortness of breath. CT scan revealed a 5-cm anterior mediastinal mass and mediastinal lymphadenopathy. Endoscopic ultrasound-guided FNA of a 4.5-cm subcarinal lymph node showed medium to large atypical lymphocytes with scant to moderate finely vacuolated cytoplasm. Nuclei were enlarged, cleaved, noncleaved, lobulated, and hyperchromatic. The background showed lymphoglandular bodies. Malignant large cell lymphoma was cytologically diagnosed. FCM, performed on a portion of the FNA specimen, demonstrated large B cells devoid of surface immunoglobulin expression, the characteristic immunophenotype of PMBL. The histologic diagnosis was PMBL. Touch-imprint cytology of the histologic specimen showed large cells with a narrow rim of clear cytoplasm and prominent outer cell border. Nuclear features were similar to the FNA specimen. In the presence of a mediastinal mass, FNA cytology in conjunction with FCM can effectively diagnose PMBL in the appropriate clinical setting. 相似文献
70.
Sikkema DJ Ziembiec NA Jones TR Hildreth SW Madore DV Quataert SA 《Clinical and diagnostic laboratory immunology》2005,12(1):218-223
Weight-based assignments for immunoglobulin G1 (IgG1) and IgG2 subclass antibodies to Streptococcus pneumoniae capsular polysaccharides (PnPs) in antipneumococcal standard reference serum lot 89-S (lot 89-S), also known as lot 89-SF, have been determined for serotypes 1, 4, 5, 7F, 9V, and 18C. This extends the usefulness of lot 89-S beyond the IgG1 and IgG2 subclass assignments for serotypes 3, 6B, 14, 19F, and 23F made previously (A. Soininen, H. Kayhty, I. Seppala, and T. Wuorimaa, Clin. Diagn. Lab. Immunol. 5:561-566, 1998) to cover 11 major serotypes associated with the highest percentage of pneumococcal disease worldwide. A method of equivalence of absorbances in enzyme immunosorbent assays was used to determine the IgG1 and IgG2 antibody concentrations for the additional serotypes in lot 89-S, based on the subclass values previously assigned for PnPs serotypes 6B, 14, and 23F. This cross-standardization method assures consistency with previous antibody assignments in that reference serum. The newly assigned subclass values for serotype 9V, and previously assigned values for serotype 14, were used to quantitate PnPs antibodies in sera from adult and pediatric subjects immunized with a pneumococcal conjugate vaccine. There was a predominance of IgG1 anti-PnPs antibodies in pediatric sera and IgG2 anti-PnPs antibodies in the adult sera. The IgG1 and IgG2 subclass assignments for the 11 PnPs serotypes in antipneumococcal standard reference serum lot 89-S are useful for quantitating and characterizing immune responses to pneumococcal infection and vaccination regimens. 相似文献