A germline PDGFRB splice site variant associated with infantile myofibromatosis and resistance to imatinib.

Purpose: Infantile myofibromatosis is characterized by the development of myofibroblastic tumors in young children. In most cases, the disease is caused by somatic gain-of-function variants in platelet-derived growth factor (PDGF) receptor beta (PDGFRB). Here, we reported a novel germline intronic PDGFRB variant, c.

Use of Cell-Free DNA Testing to Diagnose Infective Endocarditis in a Patient With Negative Blood Cultures.

Infective endocarditis (IE) is associated with significant morbidity and mortality. Its diagnosis can be especially challenging, as can the identification of a causative pathogen, which, in turn, is crucial for appropriate management. Here, we present a rare case of Streptococcus intermedius endocarditis complicated by lung and cerebral abscess in which clinicians employed cell-free deoxyribonucleic acid (cfDNA) testing to confirm the diagnosis, establish a causative pathogen, and determine appropriate antibiotic therapy.

Hospital-Acquired Sacral Pressure Ulcer Complicated by a Spinal Epidural Abscess.

A spinal epidural abscess is a rare condition characterized by the accumulation of pus between the dura mater and vertebral column, often caused by hematogenous spread from a distant site or local spread from infection in nearby structures. The abscess leads to compression of the spinal cord and can result in neurological damage, including dysfunction or permanent neurological deficits. Treatment of spinal epidural abscesses should not be delayed and requires a combination of decompression by surgical drainage and antibiotic therapy.

Complex Cardiovascular Morbidities in Prader-Willi Syndrome: A Multidisciplinary Approach.

This case emphasizes the complexity of Prader-Willi syndrome (PWS), the need for a collaborative approach from specialists, and a closer look at the various cardiovascular complexities associated with this syndrome. While current treatments focus on managing symptoms, ongoing genetic research offers hope for more favorable outcomes. Further studies are crucial to gauge the effectiveness of these treatments for PWS patients.