Publications by authors named "Mariam Maksutova"

Purpose: Gender-affirming hormones (hormones)-the use of sex hormones to induce desired secondary sex characteristics in transgender and nonbinary (TGNB) individuals-are vital health care for many TGNB people. Some hormone providers require a letter from a mental health provider before hormone initiation. We explore the perspectives of TGNB individuals regarding the impact of the letter requirement on their experience of care.

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Objective: Visceral branch artery dissection (VBAD) is uncommon and may occur with or without an associated aortic dissection (AD). We hypothesized that isolated VBAD would have a more benign clinical course than those with concurrent AD and compared survival outcomes stratified based on aortic involvement.

Methods: VBAD over a 5-year period were identified using International Classification of Diseases codes.

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Purpose: Patients with differentiated thyroid cancer (DTC) undergo posttreatment surveillance for several years. We aim to better define an excellent response to therapy using thyroglobulin (TG) and thyroglobulin antibody (TGab) levels at 1-year to tailor appropriate length of surveillance.

Methods: Patients with DTC who underwent surgical treatment with or without adjuvant radioiodine therapy were followed with standard American Thyroid Association surveillance.

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Objective: Efforts to improve physician well-being have focused on gratitude, which predicts health and happiness. Despite reported benefits, expressions of gratitude in healthcare can seem infrequent. Here, we describe Gratitude-Grams, an intervention to cultivate expressions of gratitude throughout a department.

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Article Synopsis
  • The study explores the varying perspectives of healthcare providers in the U.S. on the necessity of mental health evaluations before prescribing gender-affirming hormones (GAH) to transgender individuals.
  • Providers are divided, with some advocating for mandatory mental health "clearance" to ensure appropriate GAH candidates, while others argue this may act as a barrier to accessing care.
  • Overall, the research highlights a spectrum of practices among providers, influenced by factors like their understanding of gender identity and the roles of different healthcare professionals in the treatment process.
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Pituitary hormone deficiency occurs in ∼1:4,000 live births. Approximately 3% of the cases are due to mutations in the alpha isoform of POU1F1, a pituitary-specific transcriptional activator. We found four separate heterozygous missense variants in unrelated individuals with hypopituitarism that were predicted to affect a minor isoform, POU1F1 beta, which can act as a transcriptional repressor.

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The lack of functional evidence for the majority of missense variants limits their clinical interpretability and poses a key barrier to the broad utility of carrier screening. In Lynch syndrome (LS), one of the most highly prevalent cancer syndromes, nearly 90% of clinically observed missense variants are deemed "variants of uncertain significance" (VUS). To systematically resolve their functional status, we performed a massively parallel screen in human cells to identify loss-of-function missense variants in the key DNA mismatch repair factor MSH2.

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