Monotherapy: Key cause of macrolide-resistant Mycobacterium avium complex disease.

Background: Macrolide-resistant Mycobacterium avium complex (MAC) disease is very difficult to cure. Macrolide-resistance emerges in patients and is largely preventable by appropriate screening and treatment practices.

Methods: Patients with macrolide-resistant MAC isolates between March 2019 and March 2022 were retrieved from the mycobacteriology reference laboratory database at Radboudumc, Nijmegen, the Netherlands.

Chlorhexidine for the Treatment of Keratitis: A Case Series and Mini Review.

Fungal keratitis is difficult to treat, especially keratitis. In vitro studies show that chlorhexidine could be an interesting option as monotherapy. We describe a case series of four patients (four eyes) with keratitis at Radboud University Medical Center (Nijmegen, the Netherlands).

ISO standard 20776-1 or serial 2-fold dilution for antifungal susceptibility plate preparation: that is the question!

Background: Since the ISO standard 20776-1 and serial dilution procedures were compared in 2010 for fluconazole and itraconazole, several new antifungals that are hydrophobic and highly potent have been introduced.

Objectives: To investigate the impact of the number of tip changes during serial dilution, and ISO and serial dilution for nine antifungals.

Methods: EUCAST E.

Practical guidelines for interpreting copy number gains detected by high-resolution array in routine diagnostics.

The correct interpretation of copy number gains in patients with developmental delay and multiple congenital anomalies is hampered by the large number of copy number variations (CNVs) encountered in healthy individuals. The variable phenotype associated with copy number gains makes interpretation even more difficult. Literature shows that inheritence, size and presence in healthy individuals are commonly used to decide whether a certain copy number gain is pathogenic, but no general consensus has been established.

Balanced into array: genome-wide array analysis in 54 patients with an apparently balanced de novo chromosome rearrangement and a meta-analysis.

High-resolution genome-wide array analysis enables detailed screening for cryptic and submicroscopic imbalances of microscopically balanced de novo rearrangements in patients with developmental delay and/or congenital abnormalities. In this report, we added the results of genome-wide array analysis in 54 patients to data on 117 patients from seven other studies. A chromosome imbalance was detected in 37% of all patients with two-breakpoint rearrangements.

A 649 kb microduplication in 1p34.1, including POMGNT1, in a patient with microcephaly, coloboma and laryngomalacia; and a review of the literature.

We report on a male patient with intra-uterine growth retardation, microcephaly, coloboma, laryngomalacia and developmental delay. Array CGH analysis revealed a 649 kb duplication on chromosome 1p34.1.