Publications by authors named "Cristina Adelia Meehan"

Background: Primary immunodeficiency is common among patients with autoimmune cytopenia.

Objective: The purpose of this study is to retrospectively identify key clinical features and biomarkers of primary immunodeficiency (PID) in pediatric patients with autoimmune cytopenias (AIC) so as to facilitate early diagnosis and targeted therapy.

Methods: Electronic medical records at a pediatric tertiary care center were reviewed.

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Context: Leptin is an adipokine that signals energy sufficiency. In rodents, leptin deficiency decreases energy expenditure (EE), which is corrected following leptin replacement. In humans, data are mixed regarding leptin-mediated effects on EE.

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Article Synopsis
  • The text discusses the importance of connecting SCID symptoms to specific genetic causes, especially with advances in newborn screening and gene therapy options.
  • In western countries, X-linked IL2RG and ADA deficiency SCID are prevalent types that can be treated with gene therapy, but diagnosing genetic variants can be challenging due to their polymorphic nature and complexities in coding and non-coding regions.
  • The authors provide examples of X-linked SCID cases where initial tests did not reveal pathogenic variants, highlighting the need for further functional studies and maternal X-inactivation tests to confirm diagnosis and ensure timely eligibility for gene therapy.
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Context: Lipodystrophy syndromes are rare disorders of deficient adipose tissue. Metreleptin, a human analog of leptin, improved metabolic abnormalities in mixed cohorts of children and adults with lipodystrophy and low leptin.

Objective: Determine effects of metreleptin on diabetes, hyperlipidemia, nonalcoholic fatty liver disease (NAFLD), growth, and puberty in pediatric patients with lipodystrophy and low leptin.

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The lipodystrophies represent a class of diseases characterized by leptin deficiency. Leptin deficiency is associated with a severe form of the metabolic syndrome characterized by dyslipidemia, insulin resistance, diabetes, and ovarian dysfunction. Metreleptin is the pharmaceutical derived product that has been approved by the Food and Drug Administration (FDA) to treat the severe metabolic abnormalities of the generalized forms of lipodystrophy.

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Hypertension and obesity are known to be linked, with recent studies in mice proposing that leptin may be mediating this effect. This regulation, however, may not extend to humans, where a yet-to-be-identified factor is likely the underlying cause of hypertension.

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Type 2 diabetes (T2D) affects ~10% of the US population, a subset of whom have severe insulin resistance (SIR) (>200 units/d). Treatment of these patients with high-dose insulin presents logistical and compliance challenges. We hypothesized that mild caloric restriction would reduce insulin requirements in patients with T2D and SIR.

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Synopsis of recent research by authors named "Cristina Adelia Meehan"

  • - Cristina Adelia Meehan's research primarily focuses on pediatric immunology, particularly the identification and management of primary immunodeficiency disorders, as well as their intersection with autoimmune conditions and metabolic syndromes.
  • - Her studies demonstrate significant findings in various areas, such as the impact of leptin on energy expenditure and metabolic consequences in both lipodystrophy and obesity, revealing complexities in metabolic regulation and treatment efficacy.
  • - Meehan also explores diagnostic challenges in X-linked severe combined immunodeficiency (SCID) in the context of newborn screening, emphasizing the importance of genetic understanding for improved patient care and treatment strategies.