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Usher syndrome: clinical findings and gene localization studies 总被引:3,自引:0,他引:3
William J. Kimberling Sandra L. H. Davenport Ira Priluck Valorie White Karen Biscone-Halterman Patrick E. Brookhouser Claes G. Mller Gunnar Lund Timothy J. Grissom Michael D. Weston 《The Laryngoscope》1989,99(1):66-72
The issue of genetic heterogeneity is a critical problem in the localization of the gene(s) for Usher syndrome. Based on the data obtained on families studied to date, the differences between type I and type II Usher syndrome appear quite distinct with regard to auditory and vestibular function. Although the majority of families can be confidently diagnosed as typical type I or type II, clinical investigations revealed four families with findings that did not fit into either of the two more common subtypes. These findings emphasize the critical importance of an in-depth clinical analysis concomitant with the linkage investigation to assure accurate subtyping of Usher syndrome. Based on an analysis of only those families with definite type I or type II Usher syndrome, approximately 17% of the genome can be excluded as a potential site of the gene for type I, and 14% can be excluded as the site for the type II gene. This study will continue until the Usher gene(s) is successfully localized. 相似文献
3.
TF Leung WC Tsoi CK Li KW Chik MMK Shing PMP Yuen 《Acta paediatrica (Oslo, Norway : 1992)》1998,87(6):705-777
We describe a 15-y-old girl with Fechtner-like syndrome, who is the first Chinese reported to have this rare syndrome. She presented with left homonymous hemianopia and neuroimaging revealed haemorrhage in both parietal and occipital lobes. Peripheral blood smear showed macrothrombocytopenia and intracytoplasmic inclusion bodies inside leucocytes. Thrombocytopenia and proteinuria responded to intravenous immunoglobulin and pulsed methylprednisolone. This case illustrates that life-threatening haemorrhage can occur in patients with Fechtner syndrome. Although there was no effective treatment reported in the literature, high dose steroid and immunoglobulin seemed to be useful in our patient. Our patient also had nephritic-nephrotic syndrome with renal insufficiency, which is unusual in adolescent female patients. 相似文献
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Bersinger NA; Brandenberger A; Berger E; Baumann CK; Birkhauser MH 《Human reproduction (Oxford, England)》1998,13(7):1962-1967
We have previously observed the repeated presence of low but detectable
amounts of the trophoblast marker pregnancy-specific beta1-glycoprotein
(SP1) in the serum of some women undergoing in-vitro fertilization (IVF)
treatment around the time of oocyte retrieval. The occurrence of these
signals seemed to be restricted to a defined group of patients which also
showed a lower pregnancy success rate in a preliminary study. To test our
hypothesis we have analysed 173 consecutive cycles leading to an embryo
transfer. Fifty-four cycles (31%) had a serum SP1 level of at least 0.1
ng/ml between days embryo transfer -5 and embryo transfer (group A). Five
pregnancies were obtained in this group (pregnancy rate = 9.3%), while in
group B, defined by the absence of detectable SP1 before embryo transfer
(119 cycles), 36 ongoing pregnancies were achieved (30.3%). Ten of the 41
pregnancies were achieved in 33 first-time non-pregnant patients undergoing
further attempts during the study period. Again the pregnancy rate was
higher in the first-time group B women (9/23 versus 1/10 for group A).
Patients tended to remain in their groups A or B, the latter being
associated with a better immediate as well as subsequent chance for
pregnancy. Group A cycles had a significantly lower endometrial thickness
two days before oocyte retrieval than group B (P = 0.0011). We postulate
that the presence of an unknown, maternal and progesterone- or follicle
stimulating hormone-independent factor in some patients could stimulate
tonic ectopic SP1 synthesis and at the same time negatively influence
endometrial development.
相似文献
9.
The functional of B-L (Ia-equivalent)-positive (B-L+) adn -negative (B-L-) chicken peripheral blood lymphocytes (PBL) was studied in vitro and in vivo. The PBL were first stained in direct immunofluorescence tests with a fluorescein isothiocyanate-labelled anti-B-L alloantiserum and then separated by means of a fluorescence-activated cell sorter. In agreement with our previous findings, B-L- cells showed functional properties of T lymphocytes, responding to concanavalin A and phytohaemagglutinin-P in vitro and inducing a graft-versus-host (GVH) reaction when injected into allogeneic embryos. Sorted B-L+ gave no responses in any of these assays. Neither B-L+ nor B-L- cells, when tested alone, responded significantly to pokeweed mitogen, but mixtures of the two restored the responsiveness to that of the original unsorted suspension. Of the B-L+ PBL, 10% were T cells, which may account for the low GVH reactivity given by this population. 相似文献
10.
Lueger RJ Howard KI Martinovich Z Lutz W Anderson EE Grissom G 《Journal of consulting and clinical psychology》2001,69(2):150-158
The dosage model provides a normative estimate of the overall pattern of patient improvement in psychotherapy. The phase model further specifies patterns of change in the domains of subjective well-being, symptom remediation, and functioning. The expected treatment response (ETR) approach uses patient characteristics to predict an expected path of progress for each patient. With repeated measures of mental health status, the treatment progress of an individual patient can be assessed against the patient's ETR to support decisions that would enhance the quality of a clinical service while it is being delivered. 相似文献