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Focal segmental glomerulosclerosis associated with mitochondrial disease
Primary mitochondrial diseases (MD) are complex, heterogeneous inherited diseases caused by mutations in either the mitochondrial or nuclear DNA. Glomerular diseases in MD have been reported with tRNA mutation m.3243A>G causing a syndrome of mitochondrial encephalomyopathy, lactic acidosis and stroke-like episodes (MELAS). We describe here a case of focal segmental glomerulosclerosis (FSGS) associated with a new tRNA mutation site. A 34-year-old man with a history of living related kidney transplantation, diabetes, hearing loss, and developmental delay presented to the outpatient clinic with complaints of new behavioral difficulties, worsening symptoms, and brain involvement on imaging. Physical examination was remarkable for difficulty hearing, a pattern of dysarthric speech, and cerebellar gait. Laboratory investigations including lactate levels were unremarkable. Based on this set of clinical circumstances, concern for an underlying genetic abnormality was raised. Multiple metabolic tests were unremarkable. Whole exome sequencing revealed a mitochondrial MT-TW tRNA change at position m.5538G>A. Genotype-phenotype correlations are consistent with this tRNA mutation as a cause of his symptoms. To the best of our knowledge, this is the first case describing FSGS-associated MD caused by an m.5538 G>A mutation. Consideration of an underlying MD should be made in patients presenting with deafness, neurologic changes, diabetes, and renal failure
Preliminary Report on the Seismological and Engineering Aspects of the January 17, 1994 Northridge Earthquake
This report on the seismological and engineering aspects of the 17 January, 1994, Northridge earthquake was printed on 24 January, 1994, one week after the main event. Its purpose is to provide a brief overview of preliminary observations related to the earthquake. The primary audience is seismologists, engineers and related professionals in the earthquake hazard and earthquake risk mitigation field. The report is preliminary in the sense that significant data collection and analysis remain to be completed. Reports containing more complete data and analysis may be issued at a later date.
Immediately following the 17 January, 1994, Northridge earthquake, the Earthquake Engineering Research Center dispatched a reconnaissance team to the epicentral region. This report, issued one week after the earthquake, provides an overview of the seismological and engineering aspects of the earthquake and associated aftershocks.
A slide set containing approximately 1 00 slides obtained during the reconnaissance, including all slides and photographs in this report, is being prepared. Copies of the set are available at cost. To obtain a set, write to EERC Reports, 1301 S. 46th Street, Richmond, California 94804, e-mail to [email protected], call510-231-9468, or fax 510-231-9461.National Science Foundation///Virginia, Estados UnidosUCR::Vicerrectoría de Docencia::Ingeniería::Facultad de Ingeniería::Escuela de Ingeniería Civi