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41.
Missense mutation in a von Willebrand factor type A domain of the alpha 3(VI) collagen gene (COL6A3) in a family with Bethlem myopathy 总被引:2,自引:0,他引:2
Pan TC; Zhang RZ; Pericak-Vance MA; Tandan R; Fries T; Stajich JM; Viles K; Vance JM; Chu ML; Speer MC 《Human molecular genetics》1998,7(5):807-812
The Bethlem myopathy is a rare autosomal dominant proximal myopathy
characterized by early childhood onset and joint contractures. Evidence for
linkage and genetic heterogeneity has been established, with the majority
of families linked to 21q22.3 and one large family linked to 2q37,
implicating the three type VI collagen subunit genes, COL6A1 (chromosome
21), COL6A2 (chromosome 21) and COL6A3 (chromosome 2) as candidate genes.
Mutations of the invariant glycine residues in the triple-helical
domain-coding region of COL6A1 and COL6A2 have been reported previously in
the chromosome 21-linked families. We report here the identification of a
G-->A mutation in the N-terminal globular domain-coding region of COL6A3
in a large American pedigree (19 affected, 12 unaffected), leading to the
substitution of glycine by glutamic acid in the N2 motif, which is
homologous to the type A domains of the von Willebrand factor. This
mutation segregated to all affected family members, to no unaffected family
members, and was not identified in 338 unrelated Caucasian control
chromosomes. Thus mutations in either the triple-helical domain or the
globular domain of type VI collagen appear to cause Bethlem myopathy.
相似文献
42.
An allergic reaction following intrauterine insemination 总被引:1,自引:0,他引:1
Intrauterine insemination is a common procedure used for the treatment of
different causes of infertility. Adverse reactions associated with this
procedure are very rare and usually the procedure is well tolerated by the
patient. We report a case of an allergic reaction after intrauterine
insemination. The patient developed fever, difficulty breathing and
wheezing in both lung fields. Although a low concentration of penicillin in
the medium was used, it caused a significant allergic reaction. When
intrauterine insemination was performed in subsequent cycles with an
antibiotic-free medium, no allergic reaction occurred, and the procedure
was well tolerated by the patient. A careful allergy history is essential
in patients pursuing infertility treatment where antibiotics are utilized.
Patients who are known to be allergic to penicillin should have semen
prepared by an antibiotic-free medium.
相似文献
43.
44.
Dendritic cells and autoimmunity 总被引:7,自引:0,他引:7
Bayry J Thirion M Delignat S Misra N Lacroix-Desmazes S Kazatchkine MD Kaveri SV 《Autoimmunity reviews》2004,3(3):183-187
Dendritic cells (DC) are professional antigen-presenting cells that are specialized in the uptake of antigens and their transport from peripheral tissues to the lymphoid organs. Because of their capacity to stimulate naive T cells, DC have a central role in the initiation of primary immune responses and are considered promising tools and targets for immunotherapy. Emerging data suggest a role for DC in initiating autoimmune attacks. Direct analysis of DC phenotypes and DC-T-cell interactions in rodent and human autoimmune diseases should shed light on how pathogenesis occurs, and suggest novel avenues of treatment aimed at alleviating deviant DC function. 相似文献
45.
Horne G; Jamaludin A; Critchlow JD; Falconer DA; Newman MC; Oghoetuoma J; Pease EH; Lieberman BA 《Human reproduction (Oxford, England)》1998,13(11):3045-3048
Insemination with donor spermatozoa is an integral part of infertility
treatment. For the last 3 years in our unit, intrauterine insemination with
donor spermatozoa (IUID) has been used in preference to vaginal
insemination. In this retrospective study, patients were offered an initial
course of five single intrauterine inseminations with cryopreserved donor
spermatozoa and treatment was then reviewed. A total of 389 patients
received 1465 inseminations. In all, 1119 cycles were monitored using
luteinizing hormone serum analyses and 346 cycles using the urine home test
kits. The clinical pregnancy rate per insemination for the cycles monitored
by the serum assay was 18.0% (202/1119) compared with the urine cycles
(13.7%, 46/346) (P <05). The pregnancy loss rate was not significantly
different (14.4%, 29/202 and 21.7%, 10/46) (serum and urine cycles
respectively). The viable clinical pregnancy rate was significantly higher
(P <03) for the serum cycles than for the cycles using the urinary
monitoring (15.5%, 173/1119 and 10.4%, 36/346 respectively). The cycles
monitored by serum assay had a significantly higher cumulative viable
clinical pregnancy rate (P <0001) of 70.2% after nine inseminations
compared with the urine monitored cycles of 54.8%. The majority of patients
opted for the serum cycles, with a minority self-selecting the urine cycles
mainly for travelling convenience. The explanation for the significant
differences between the viable clinical pregnancy rates per insemination
and the cumulative viable clinical pregnancy rates may be due to the
sensitivity of the urine home test kit or the patients' interpretation of
the result.
相似文献
46.
D Hassine G Rougereau JM Feron MC Henry-Feugeas V Fabre JC Sadik E Schouman-Claeys 《Surgical and radiologic anatomy : SRA》1994,16(3):293-301
Summary The angular points are the ligamentous and tendinous structures that reinforce the posteromedial and posterolateral capsule of the knee and share in fixation of the posterior horns of the menisci. They are often damaged in acute injuries and this is usually associated with ruptures of the cruciate and collateral ligaments and may add to the degree of laxity. We describe the normal appearance of these structures in terms of the sectional anatomy, correlated with the lesional appearances of complete and incomplete ruptures and associated meniscal detachments as shown by clinical testing and arthrotomy findings.
IRM des points d'angle du genou : bases anatomiques et applications aux genoux traumatiques
Résumé Les points d'angle sont des structures ligamentaires et tendineuses qui renforcent la capsule postéro-médiale et postéro-latérale et participent à la fixation des cornes postérieures des ménisques. Leurs lésions, fréquentes au cours des traumatismes aigus, sont généralement associées à des ruptures des ligaments croisés et des ligaments collatéraux et peuvent être source d'une aggravation de la laxité. Nous rapportons, en corrélation avec l'anatomie en coupe, l'aspect normal de ces structures, et en corrélation avec les données de l'arthrotomie et du testing les aspects lésionnels observés au cours des traumatismes : ruptures complètes, incomplètes et désinsertions méniscales associées.相似文献
47.
Reverse micelle and chemical hydrolysis techniques have been successfully combined to synthesize composite nanoparticles consisting of a photocatalytic shell of titania and a magnetic core of nickel ferrite. The nature of titania shell, i.e. anatase or brookite, depends on the TiO2 and NiFe2O4 molar ratio. The work presented here describes the photocatalytic and anti-microbial activity of the composite nanoparticles together with the magnetic characteristics of the nickel ferrite core. The TiO2-coated NiFe2O4 nanoparticles retain the magnetic characteristics of uncoated nanocrystalline nickel ferrites (superparamagnetism; absence of hysteresis, remanence and coercivity at 300 K) encouraging their application as removable anti-microbial photocatalyst nanoparticles that can be extracted from the sprayed surface (human body or environment) after exposure. 相似文献
48.
A novel gene that encodes a protein with a putative src homology 3 domain is a candidate gene for familial juvenile nephronophthisis 总被引:3,自引:0,他引:3
49.
Evoked potential changes in ischaemic myelopathy 总被引:2,自引:0,他引:2
Kalita J Srivastava AK Mittal P Sharma VP Misra UK 《Electromyography and clinical neurophysiology》2003,43(4):211-215
Somatosensory evoked potentials are employed in the intraoperative monitoring but there is paucity of information about the motor evoked potentials (MEP) in spinal cord ischaemia. Two patients aged 9 and 4 years developed paraplegia following surgery for coarctation of aorta. The aortic cross clamping time in these patients was 100 min and 30 min. respectively. The patient with longer clamping time had flaccid paraplegia and lower limb MEPs were not recordable; whereas the patient with shorter clamping time had spastic paraparesis and prolonged CMCT to right lower limb. The latter patient improved significantly. Tibial SEPs were normal in both the patients. Our results suggest that MEP may have a greater role than SEP in documenting and prognosticating ischaemic myelopathy. 相似文献
50.