Publications by authors named "A C Lerario"
Introduction: The profile of genetic and nongenetic factors associated with progression to kidney failure (KF) in steroid-resistant nephrotic syndrome (SRNS) is largely unknown in admixed populations.
Methods: A total of 101 pediatric patients with primary SRNS were genetically assessed targeting Mendelian causes and status with a 62-NS-gene panel or whole exome sequencing, as well as genetic ancestry. Variant pathogenicity was evaluated using the American College Medical of Genetics and Genomics (ACMG) criteria.
Silver-Russell syndrome (SRS) is an imprinting disorder mainly characterized by pre- and postnatal growth restriction. Most SRS cases are due to 11p15.5 loss of methylation (11p15.
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- Becker muscular dystrophy (BMD) is an X-linked neuromuscular disorder caused by mutations in the DMD gene, impacting dystrophin production in muscle tissues, which is important for patient care and treatment development.
- A study of 943 BMD patients revealed the median age at diagnosis was 7.5 years, with significant findings including that about 13.5% lost mobility by an estimated age of 69, while 30% experienced cardiac issues.
- Different types of DMD mutations correlated with variations in disease progression, particularly affecting loss of ambulation and heart functionality, highlighting the importance of precise genetic characterization for managing BMD.
Somatic Activating ESR1 Mutation in an Aggressive Prolactinoma.
J Clin Endocrinol Metab
September 2024
Article Synopsis
- The study aims to uncover genetic changes linked to prolactinomas, ultimately identifying a mutation (ESR1Y537S) in an aggressive case of this tumor type at Brigham and Women's Hospital.
- A group of twenty patients was analyzed using advanced sequencing techniques, revealing the ESR1Y537S mutation in a post-menopausal woman, which is known to enhance estrogen receptor activity without needing a hormone trigger.
- The discovery of this mutation allowed for targeted treatment with elacestrant, in combination with radiotherapy, effectively managing tumor growth and significantly lowering prolactin levels in the patient.
The steroid hormone aldosterone, produced by the zona glomerulosa (zG) of the adrenal gland, is a master regulator of plasma electrolytes and blood pressure. While aldosterone control by the renin-angiotensin system is well understood, other key regulatory factors have remained elusive. Here, we replicated a prior association between a non-coding variant in and an increased risk of primary aldosteronism, a prevalent and debilitating disease caused by excessive aldosterone production.
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