We investigated linkage between schizophrenia and the loci DXYS14, DXYS17, and MIC2 within the pseudoautosomal region in 85 families with two or more siblings suffering from schizophrenia or schizoaffective disorder. A maximum lod score of 2.44 was reached at MIC2, with a dominant model of inheritance at a recombination fraction of 0.367 in females and 0.046 in males (a F: M sex ratio > 1, i.e. opposite to that expected with a pseudoautosomal locus). Evidence consistent with linkage (P = 0.01) was also obtained with a sibling pair analysis at the MIC2 locus. These data do not support (although they do not definitively exclude) a locus within the pseudoautosomal region; they are consistent with the presence of a gene that predisposes to schizophrenia in the sex-specific regions of the X and Y chromosomes.
In families that included two or more siblings with schizophrenia or schizo-affective disorder male-male pairs were found to share alleles at the androgen receptor (AR) gene (in Xq11.2-q12) above chance expectation (p < 0.003); female-female and mixed sex pairs showed no such tendency. The findings are compatible with X-Y linkage or with an X-linked contribution to liability in males.
A 65-year-old woman with a history of hypertension and diabetes mellitus presented with a 1-day onset of chest pain, shortness of breath, and dizziness. Vital signs were significant for hypoxia, with a room air saturation of 80%, heart rate of 118 beats per minute, and BP of 175/115 mm Hg. CT angiogram of the chest showed a large saddle pulmonary embolism with right ventricular strain; the decision was made to administer IV alteplase, 100 mg, for thrombolysis.After thrombolysis, the patient's cardiopulmonary status improved. However, over the next 2 hours, the patient experienced vision loss in the right eye with associated pain and headache. Fundoscopic examination performed by the Ophthalmology Department revealed a fixed, nonreactive right pupil with severely elevated (immeasurably high) intraocular pressures. Dilated examination showed choroidal elevation with vitreous hemorrhage; however, the examination was limited because of nuclear sclerosis and hemorrhagic material.In conjunction with the Ophthalmology Department, point-of-care ultrasound scanning of the right orbit was performed by the critical care team (Video 1).Question: Based on the clinical scenario and ultrasound findings, what is the most likely diagnosis of this patient?
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