Genome-Wide Meta-Analysis Identifies Multiple Novel Rare Variants to Predict Common Human Infectious Diseases Risk.

Infectious diseases still threaten global human health, and host genetic factors have been indicated as determining risk factors for observed variations in disease susceptibility, severity, and outcome. We performed a genome-wide meta-analysis on 4624 subjects from the 10,001 Dalmatians cohort, with 14 infection-related traits. Despite a rather small number of cases in some instances, we detected 29 infection-related genetic associations, mostly belonging to rare variants. Notably, the list included the genes CD28, INPP5D, ITPKB, MACROD2, and RSF1, all of which have known roles in the immune response. Expanding our knowledge on rare variants could contribute to the development of genetic panels that could assist in predicting an individual's life-long susceptibility to major infectious diseases. In addition, longitudinal biobanks are an interesting source of information for identifying the host genetic variants involved in infectious disease susceptibility and severity. Since infectious diseases continue to act as a selective pressure on our genomes, there is a constant need for a large consortium of biobanks with access to genetic and environmental data to further elucidate the complex mechanisms behind host-pathogen interactions and infectious disease susceptibility.

Percutaneous Endoscopic Gastrostomy Tubes Can Be Considered Safe in Children: A Single-Center 11-Year Retrospective Analysis.

Background and Objectives: When the human body is disabled to naturally ingest food through the mouth, enteral or parenteral nutritional support should be started. Percutaneous gastrostomy (PEG) is a flexible feeding tube that is inserted into the stomach through the abdominal wall in patients who will need long-term enteral nutrient intake. The aim of this study is to analyze clinical characteristic of children at the time of PEG placement as well as to determine indications, complications and outcomes associated with PEG at the Department of Pediatrics of the University Hospital of Split. Materials and Methods: Retrospective analysis of the medical records of patients treated from 2010 to 2020 was performed. The following data were collected from medical records: age, gender, information about nasogastric feeding before PEG placement, indication for PEG insertion, duration of PEG, procedure-related complications and treatment outcomes. Malnutrition was determined according to the z-score range for BMI for age and sex. According to the indication for PEG placement, patients were divided into five categories: central nervous system (CNS) diseases, neuromuscular diseases, genetic disorders, metabolic diseases, and group of children with polytrauma. Results: A total of 40 patients with median age of 110 months were included in study. At the time of PEG placement, most patients had deviations in body weight and height compared to expected values for age and sex. The most common underlying diagnoses were diseases of the central nervous system. Minor complications were found in 13 (35%) of patients. One patient (2.7%) developed major complication (gastrocolic fistula) and consequently underwent reoperation. The median duration of PEG in patients with complications before the need for replacement was 27 months, and in patients without complications, 43 months. Conclusions: Negative deviations of z-score body weight, body height, and body mass index could indicate the need for possible earlier placement of PEG. PEG can be considered as a safe therapeutic option in children since PEG-related complications, mostly in minor forms, were found in a small number of patients.

Characteristics of Children with Diabetic Ketoacidosis Treated in Pediatric Intensive Care Unit: Two-Center Cross-Sectional Study in Croatia.

Background and objective: There is an increasing risk of type 1 diabetes mellitus (T1D) among children in Croatia. Diabetic ketoacidosis (DKA) is the leading cause of morbidity and mortality in children with T1D, with cerebral edema as the most severe complication. Since early recognition of cerebral edema leads to a better outcome, it is important that patients with moderate or severe DKA are closely monitored and treated in pediatric intensive care units (PICUs). The aim of this study is to investigate clinical and laboratory parameters, as well as complications in children treated in PICUs because of DKA. Materials and methods: Patients treated due to DKA in the PICU of the University Hospitals of Split and Osijek from 2013 to 2017 were included in this study. Retrospectively collected data included age, gender, clinical signs and symptoms, and various laboratory parameters. After dividing subjects into two groups: Newly diagnosed with T1D (NT1D) and previously diagnosed with T1D (PT1D), collected data were compared between the two groups. Results: A total of 82 patients were enrolled. Those with NT1D were more often treated in the PICU, with two of them developing cerebral edema. Dehydration was the most frequent clinical sign, found in 95% of patients at admission. Decreased consciousness level was found in 41.5% of patients, with majority of them being somnolent. No difference was found between NT1D and PT1D. Additionally, there was no significant difference regarding laboratory data at admission. Conclusions: More children with NT1D required treatment in the PICU due to DKA with two of them developing cerebral edema. Since cerebral edema is a life-threatening condition, treatment of patients with moderate or severe DKA in PICUs will provide necessary monitoring enabling early recognition, treatment, and better treatment outcome. To minimize the incidence of DKA among patients with NT1D, it is important to continuously carry out public health education programs aimed at early identification of signs and symptoms of T1D.