Context: 47,XXY/Klinefelter syndrome (XXY) is associated with impaired testicular function and differences in physical growth, metabolism, and neurodevelopment. Clinical features of XXY may be attributable to inadequate testosterone during the mini-puberty period of infancy.
Objective: We tested the hypothesis that exogenous testosterone treatment positively effects short-term physical, hormonal, and neurodevelopmental outcomes in infants with XXY.
Purpose: There is growing international interest in using genomic sequencing to screen newborns and children for treatable genomic conditions. Although recent research has demonstrated increasing support for using genomic sequencing to screen newborns and children for treatable genomic conditions among various stakeholders, little is known about the perspectives of genetic counselors (GCs) in the United States, who are frequently engaged in the disclosure of positive newborn screening results and coordination of follow-up testing and management.
Methods: This study utilized a cross-sectional 3-section survey to explore GCs' perspectives on the benefits, limitations, and ethical and practical considerations of genomic sequencing in newborns as an adjunct screen to standard newborn screening (NBS).
Background: Small cohort studies have shown rapid pleurodesis protocol's (RPP) effectiveness and capacity to expedite pleurodesis for malignant pleural effusion (MPE). This study intends to evaluate the effectiveness of the RPP in inducing pleurodesis in patients with pleural effusions from either malignant or benign etiologies.
Methods: In this single-center, retrospective cohort study spanning 2 decades, we assessed patients with recurrent symptomatic chronic noninfectious pleural effusion, both benign and malignant.
J Bronchology Interv Pulmonol
January 2025