Publications by authors named "A Ambrose"

Despite an opportunity to prevent adult psychopathology associated with bipolar disorder through early diagnosis in children, there is insufficient information and awareness among healthcare providers about the unique features and treatment of mania and its comorbid conditions in children. Converging evidence from disparate sites describe a developmentally distinct presentation of bipolar disorder in youth that is highly morbid, persistent and responds to treatment with the mood stabilizer medications used in the treatment of adult bipolar disorder, such as divalproex sodium and carbamazepine. Some are additionally approved for use in pediatric populations including, for manic or mixed states, risperidone, aripiprazole, and asenapine for those aged 10-17 years and also including lithium and olanzapine for ages 13-17 years.

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Autosomal dominant Fanconi syndrome due to a variant (GATM-FS), causes accumulation of misfolded arginine-glycine amidinotransferase (AGAT) in proximal renal tubules leading to cellular injury. GATM-FS presents during childhood and progresses to end-stage kidney disease (ESKD) in adults. We study creatine metabolism in two individuals of unrelated families with a known variant and the effect of creatine supplementation in kidney organoids.

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Article Synopsis
  • Primary mitochondrial diseases (PMD) are common genetic disorders caused by harmful changes in mitochondrial or nuclear DNA that affect mitochondrial function; this study aims to explore overlaps between PMD and other genetic diseases that resemble PMD.
  • A retrospective study analyzed 297 individuals suspected of having PMD, identifying 71 cases of PMD (split into mtDNA and nDNA) and 22 cases of other non-PMD genetic conditions, with adults showing a higher prevalence of mtDNA-PMD than children.
  • The findings highlight the diagnostic potential of genetic testing (with a 31.3% success rate) and suggest that specific phenotypes can help differentiate PMD from non-PMD, along with noting possible progressive liver phenotypes that need
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Here, we describe patterns of reproduction and flight phenology of putative Phloeosinus punctatus in giant sequoia groves and compare morphology and genotypes of beetles from sympatric giant sequoia (Sequoiadendron giganteum) and California incense-cedar (Calocedrus decurrens). Surveys conducted in 2022 revealed that numerous branches fall from giant sequoia crowns (on average ~30 branches/tree), with 20%-50% of trees per site shedding branches, depositing breeding material for beetles on the forest floor that subsequently becomes colonized. When noninfested branches cut from mature giant sequoias were placed at the ground surface, they were colonized by P.

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