A c.3037G > A mutation in FBN1 gene causing Marfan syndrome with an atypically severe phenotype.

Marfan syndrome is a pleiotropic connective tissue disease inherited as an autosomal dominant trait, mostly caused by mutations in the FBN1 gene, which is located on chromosome 15q21.1 and encoding fibrillin 1. We report a case of Marfan syndrome presenting with severe ocular and systemic manifestations, such as cardiac congenital anomalies. The patient underwent a multidisciplinary approach and his clinical diagnosis was associated with a c.3037G > A mutation in the FBN1 gene. Identification of this genetic alteration should instigate a prompt multidisciplinary assessment and monitoring, in order to prevent devastating consequences such as cardiac and ocular phenotype. Molecular modeling of the mutation highlighted the importance of the preservation of the calcium-dependent structure of an epidermal -growth-factor-like domain of fibrillin-1 and consequently the microfibrillar formation process. This report aims to highlight the importance of an early clinical and molecular diagnosis and once more, the importance of the multidisciplinary approach of this genetic entity

Valued Characteristics of Community Pharmacy Residency Applicants

Community pharmacy work experience, organizational leadership experience, and positive letters of recommendation appear to be the most valued attributes of a community pharmacy residency applicant. Applicants should consider aligning themselves with these characteristics to successfully match to a community pharmacy residency

Counseling Techniques: A Comprehensive Resource for Christian Counselors

Counseling Techniques provides a useful resource for any type of counseling practitioner. Presenting a wide variety of the most effective and commonly used techniques associated with various diagnoses, theoretical bases, and client populations, it offers experienced therapists and students alike a single, trustworthy resource for clinical reference and guidance