Touch-operated world of teenagers in the distance education process: A cross-sectional study on nomophobia, netlessphobia and fear of missing out in nursing students.

AIM: To determine the levels of nomophobia, netlessphobia and fear of missing out of nursing students in this digital era and to perform comparison according to their personal and smartphone usage characteristics. BACKGROUND: The time we live in has provoked some digital diseases along with many developments that have made our lives easier. Nomophobia, netlessphobia and fear of missing out, which develop due to excessive or inappropriate use of smartphones, the Internet and social media, are among those digital diseases. DESIGN: This is a descriptive, comparative, correlational and cross-sectional study. METHODS: The data were obtained from 802 volunteer students at the nursing faculties of three public universities in Istanbul between 15 April and 15 May 2022. The personal information form, Nomophobia Questionnaire, Firat Netlessphobia Scale and Fear of Missing Out Scale were used as data collection instruments. The data were analyzed using Cronbach's alpha and descriptive, correlative and comparative analyses. RESULTS: The scale scores of nursing students were below the average in general; however, it was determined that the nomophobia scores were higher than the netlessphobia and fear of missing out scores. While gender and grade variables made a significant difference with nomophobia (p < 0.05), no significant difference was found with netlessphobia and fear of missing out (p > 0.05). Those who connect to the Internet from home; use the Internet for distance education and social media; use the Internet on their smartphones for a longer period in a day; check their smartphone more often; carry a phone charger with them; spend time on their smartphones before sleeping and after waking up; and consider themselves addicted obtained higher scores (p < 0.05). CONCLUSIONS: Digital issues of our time are both associated with the interaction among each other and smartphone usage characteristics. It is considered important to evaluate themselves regarding inappropriate or excessive use and risky behavior, as well as adapting approaches to protect young people.

Natural history and genetic spectrum of the Turkish metaphyseal dysplasia cohort, including rare types caused by biallelic COL10A1, COL2A1, and LBR variants.

BACKGROUND: Metaphyseal chondrodysplasias are a heterogeneous group of diseases characterized by short and bowed long bones and metaphyseal abnormality. The aim of this study is to investigate the genetic etiology and prognostic findings in patients with metaphyseal dysplasia. METHODS: Twenty-four Turkish patients were included in this study and 13 of them were followed for 2-21 years. COL10A1, RMRP sequencing and whole exome sequencing were performed. RESULTS: Results: Seven heterozygous pathogenic variants in COL10A1 were detected in 17 patients with Schmid type metaphyseal chondrodysplasia(MCDS). The phenotype was more severe in patients with heterozygous missense variants (one in signal peptide domain at the N-terminus of the protein, the other, class-1 group mutation at NC1 domain) compared to the patients with truncating variants. Short stature and coxa vara deformity appeared after 3 and 5 years of age, respectively, while large femoral head resolved after the age of 13 years in MCDS group. Interestingly, one patient with severe phenotype also had a biallelic missense variant in NC1 domain of COL10A1. Three patients with biallelic mutations in RMRP had prenatal onset short stature with short limb, and typical findings of cartilage hair hypoplasia (CHH). While immunodeficiency or recurrent infections were not observed, resistant congenital anemia was detected in one. Biallelic mutation in LBR was described in a patient with prenatal onset short stature, short and curved limb and metaphyseal abnormalities. Unlike previously reported patients, this patient had ectodermal findings, similar to CHH. A biallelic COL2A1 mutation was also found in the patient with lower limb deformities and metaphyseal involvement without vertebral and epiphyseal changes. CONCLUSION: Long-term clinical characteristics are presented in a metaphyseal dysplasia cohort, including rare types caused by biallelic COL10A1, COL2A1, and LBR variants. We also point out that the domains where mutations on COL10A1 take place are important in the genotype-phenotype relationship.

Somatic hypermutation defects in two adult hyper immunoglobulin M patients.

Hyper immunoglobulin M (HIGM) syndrome is a rare disorder of the immune system with impaired antibody functions. The clinical picture of the patients varies according to the underlying genetic variation. In this study, we identified two novel variants in AID and UNG genes, which are associated with autosomal recessive type HIGM, by targeted next-generation sequencing (NGS) panel. A biallelic 11 base pair deletion (c.278_288delATGTGGCCGAC) in the coding sequence of activation-induced cytidine deaminase (AID) gene was identified in a 36-year-old patient. Biallelic two base pair insertion in exon 7 of uracil nucleoside glycosylase (UNG) gene (c.924_925insGG) was identified in a 40-year-old patient. Both variants were confirmed by Sanger sequencing. HIGM, like many of the other primary immunodeficiencies, is a rare and difficult-to-diagnose entity with heterogeneous clinical phenotypes. It should be suspected in patients with a history of early-onset recurrent respiratory infections, enlarged lymph nodes, and autoimmune disorders. There might be a delay in diagnosis until adulthood especially in subtle cases or if HIGM is not included in the differential diagnosis due lacking of awareness. In this regard, genetic testing with NGS-based diagnostic panels provide a rapid and reasonable tool for the molecular diagnosis of patients with immunodeficiencies and hence, decrease the time to diagnose and prevent infection-related complications associated with increased morbidity and mortality.