A second case of glutaminase hyperactivity: Expanding the phenotype with epilepsy.

Glutaminase (GLS) hyperactivity was first described in 2019 in a patient with profound developmental delay and infantile cataract. Here, we describe a 4-year-old boy with GLS hyperactivity due to a de novo heterozygous missense variant in , detected by trio whole exome sequencing. This boy also exhibits developmental delay without dysmorphic features, but does not have cataract.

Using the max-p regions problem algorithm to define regions for energy system modelling.

The input data of energy system models are, in many cases, aggregated data used to represent regions of interest. This paper presents a method of using energy-related spatial data and the max-p-regions method to define regions. The method aims to assign areas to regions that are similar in how much they consume, produce and store electricity.

Phenolic composition, antioxidant capacity of Salvia verticcilata and effect on multidrug resistant bacteria by flow-cytometry.

Background: Antioxidants are of great importance for preventing oxidative stress that may cause several degenerative diseases. Studies have indicated phytochemicals have high free-radical scavenging activity, which helps to reduce the risk of chronic diseases. The aim of the present study is the determination of antioxidant properties, polyphenolic content and multidrug resistant bacteria of Salvia verticcilata L.

Diagnostic impact of nuclear DNA content and proliferative activity in benign and malignant melanocytic lesions.

Nuclear DNA content was assessed, using image cytometry, in adult melanocytes in normal skin and in 20 intradermal naevi, 60 junction naevi, 107 compound naevi, 61 dysplastic naevi, 17 melanomas in situ and 101 primary malignant melanomas. Proliferation was estimated using mitotic counting and immunohistochemical staining by anti-Ki-67 (clone MIB1) monoclonal antibodies. All normal adult melanocytes; and intradermal naevi (97% junction naevi, 98% compound naevi, 66% dysplastic naevi) were diploid.