Connexin 47 mutations increase risk for secondary lymphedema following breast cancer treatment.

Purpose: Secondary lymphedema is a frequent complication of breast cancer associated with surgery, chemotherapy, or radiation following breast cancer treatment. The potential contribution of genetic susceptibility to risk of developing secondary lymphedema following surgical trauma, radiation, and other tissue insults has not been studied.

Experimental Design: To determine whether women with breast cancer and secondary lymphedema had mutations in candidate lymphedema genes, we undertook a case-control study of 188 women diagnosed with breast cancer recruited from the University of Pittsburgh Breast Cancer Program (http://www.

GJC2 missense mutations cause human lymphedema.

Lymphedema is the clinical manifestation of defects in lymphatic structure or function. Mutations identified in genes regulating lymphatic development result in inherited lymphedema. No mutations have yet been identified in genes mediating lymphatic function that result in inherited lymphedema.

Candidate gene analysis in primary lymphedema.

Background: Primary lymphedema, the accumulation of protein-rich fluid in the interstitial space, is the clinical manifestation of mutations involved in lymphatic development and function. Mutations in three genes, VEGFR3, FOXC2, and SOX18, cause primary lymphedema. However, mutations in these three genes only account for a fraction of primary lymphedema.

HGF and MET mutations in primary and secondary lymphedema.

Background: Lymphedema is the abnormal accumulation of protein-rich fluid in the interstitial space. Primary lymphedema is a rare genetic condition with both autosomal dominant and autosomal recessive modes of inheritance. Three genes, FLT4 (VEGFR3), FOXC2, and SOX18 cause varying forms of primary lymphedema.

Paroxetine: population pharmacokinetic analysis in late-life depression using sparse concentration sampling.

Aim: To develop a population pharmacokinetic (PK) model using sparse sampling of long-term treatment with paroxetine in elderly depressed subjects, incorporating CYP2D6 genotype as well as other covariates.

Methods: Elderly subjects (age>or=70 years) with nonpsychotic, nonbipolar major depressive disorder from the inpatient and outpatient clinic were treated with paroxetine in a 5-year clinical trial investigating 'Maintenance Therapies in Late-Life Depression' (MTLD-2). Plasma concentrations were collected during regular visits.

Lymphedema-distichiasis syndrome and FOXC2 gene mutation.

Purpose: To describe the clinical characteristics of a family with autosomal dominant lymphedema-distichiasis syndrome and to report the results of analysis of the FOXC2 gene

Design: Observational and experimental study.

Methods: The setting was a clinical practice. The study population was 17 members of a family with lymphedema-distichiasis.