Publications by authors named "M N Koenig"

Objective: To examine patient-provider nutrition conversations at initial prenatal visits.

Design: Convergent mixed methods observational study.

Setting: Two large metropolitan clinics in the midwestern United States.

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Objective: To expand knowledge on physical outcomes and psychosocial experiences of oocyte donors after donation across 3 age cohorts.

Design: Cross-sectional mixed-methods survey.

Patients: A total of 363 participants (ages: 22-71 years, M = 38.

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Objective: Tuberous sclerosis complex (TSC) results from overactivity of the mechanistic target of rapamycin (mTOR). Sirolimus and everolimus are mTOR inhibitors that treat most facets of TSC but are understudied in infants. We sought to understand the safety and potential efficacy of preventative sirolimus in infants with TSC.

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Article Synopsis
  • Congenital titinopathies are inherited in an autosomal recessive pattern and primarily result from genetic variations in metatranscript (MTT)-only exons, leading to diverse clinical outcomes.
  • The study analyzed 20 patients with these variants, revealing severe congenital myopathy at birth along with a wide range of associated issues like muscular weakness and respiratory problems.
  • Findings underscore the importance of genotype-phenotype correlations, enhancing understanding of the genetic basis and molecular mechanisms behind these conditions.
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