Lana Omerza

A novel PGAP3 mutation in a Croatian boy with brachytelephalangy and a thin corpus callosum

Biallelic mutations in the post-GPI attachment to proteins 3 (PGAP3) gene cause hyperphosphatasia with mental retardation syndrome 4 (HPMRS4), which is characterized by elevated serum alkaline phosphatase, severe psychomotor developmental delay, seizures, and facial dysmorphism. To date, 15 PGAP3 mutations have been reported in humans. Here we report a novel homozygous PGAP3 mutation (c.314C>A, p.Pro105Gln) in a Croatian patient and fully describe the clinical features.

Detecting Undernutrition on Hospital Admission - Screening Tool Versus WHO Criteria

To prevent the development of malnutrition in hospitalized children, it is important to develope an early identification of nutritional depletion, ideally at the time of admission to the hospital. In 2009 Hulst et al. proposed new guidelines for assessing the nutritional status of hospitalized children called STRONGkids questionnaire (Screening Tool Risk on Nutritional Status and Growth). This study was designed to describe the current prevalence of malnutrition on admission to a pediatric gastroenterology hospital unit and to compare the value and feasibility of STRONGkids scoring system versus anthropometric World Health Organization (WHO) criteria in identifying children at risk of developing malnutrition during hospital stay. The prospective observational study involved 124 children hospitalized at the Department of Pediatrics, University Hospital Center Zagreb. Nutritional status and risk for malnutrition were estimated by STRONGkids questionnaire and anthropometric measurements of subjects. Statistical analysis was performed using the computer program STATISTICS 10, StatSoft. Inc. 1984-2011; using descriptive statistics, Fishers exact (FE) test and non-parametric Kruskal-Wallis (KW) test. Total malnutrition was observed in 18.5% of patients. Larger number of children at risk for malnutrition were identified by STRONGkids questionnaire than by anthropometric measurements (STRONGkids questionnaire: 75.8%; anthropometric measures: 40.3%). Patients that lost weight during hospitalization (33.1%) were further analyzed: 8/41 were not detected to be at risk by either method, 11/41 were identified by STRONGkids and anthropometry, and 22/41 were detected only by STRONGkids (Fishers exact test p=0,08). This study justifies the inclusion of the STRONGkids questionnaire in the initial evaluation of children on admission to the hospital, in order to recognize those who need special nutritional support and thus prevent the development of malnutrition during hospitalization.