Biogeochemical silica mass balances in Lake Michigan and Lake Superior

Silica budgets for Lake Michigan and Lake Superior differ in several respects. Mass balance calculations for both lakes agree with previous studies in that permanent burial of biogenic silica in sediments may be only about 5% of the biogenic silica produced by diatoms. Because dissolution rates are large, good estimates of permanent burial of diatoms can not be obtained indirectly from the internal cycle of silica (silica uptake by diatoms and subsequent dissolution) but must be obtained from the sediment stratigraphy. The annual net production of biogenic silica in Lake Michigan requires 71% of the winter maximum silica reservoir which must be maintained primarily by internal cycling in this large lake whereas the comparable silica demand in Lake Superior is only 8.3%. The greater silica demand in Lake Michigan is the result of phosphorus enrichment which has increased diatom production. It is hypothesized that steady-state silica dynamics in Lake Michigan were disrupted by increased diatom production between 1955 and 1970 and that a new steady state based on silica-limited diatom production developed after 1970. Mass balance calculations for Lake Michigan show in contrast with previous work that the hypothesized water column silica depletion of 3.0 g · m −3 could have occurred even though 90% or more of the biogenic silica production is recycled.Peer Reviewedhttp://deepblue.lib.umich.edu/bitstream/2027.42/42471/1/10533_2004_Article_BF02187199.pd

Association of variants in the SPTLC1 gene with juvenile amyotrophic lateral sclerosis

IMPORTANCE Juvenile amyotrophic lateral sclerosis (ALS) is a rare form of ALS characterized by age of symptom onset less than 25 years and a variable presentation.OBJECTIVE To identify the genetic variants associated with juvenile ALS.DESIGN, SETTING, AND PARTICIPANTS In this multicenter family-based genetic study, trio whole-exome sequencing was performed to identify the disease-associated gene in a case series of unrelated patients diagnosed with juvenile ALS and severe growth retardation. The patients and their family members were enrolled at academic hospitals and a government research facility between March 1, 2016, and March 13, 2020, and were observed until October 1, 2020. Whole-exome sequencing was also performed in a series of patients with juvenile ALS. A total of 66 patients with juvenile ALS and 6258 adult patients with ALS participated in the study. Patients were selected for the study based on their diagnosis, and all eligible participants were enrolled in the study. None of the participants had a family history of neurological disorders, suggesting de novo variants as the underlying genetic mechanism.MAIN OUTCOMES AND MEASURES De novo variants present only in the index case and not in unaffected family members.RESULTS Trio whole-exome sequencing was performed in 3 patients diagnosed with juvenile ALS and their parents. An additional 63 patients with juvenile ALS and 6258 adult patients with ALS were subsequently screened for variants in the SPTLC1 gene. De novo variants in SPTLC1 (p. Ala20Ser in 2 patients and p.Ser331Tyr in 1 patient) were identified in 3 unrelated patients diagnosed with juvenile ALS and failure to thrive. A fourth variant (p.Leu39del) was identified in a patient with juvenile ALS where parental DNA was unavailable. Variants in this gene have been previously shown to be associated with autosomal-dominant hereditary sensory autonomic neuropathy, type 1A, by disrupting an essential enzyme complex in the sphingolipid synthesis pathway.CONCLUSIONS AND RELEVANCE These data broaden the phenotype associated with SPTLC1 and suggest that patients presenting with juvenile ALS should be screened for variants in this gene.Genetics of disease, diagnosis and treatmen