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The Severe Acute Respiratory Syndrome Coronavirus 2 disease COVID-19 pandemic caused several lifestyle changes, especially among younger people. The study aimed to describe the impact of eating habits, lifestyle, and home oral hygiene during the COVID-19 pandemic, on the cariogenic risk in the Italian paediatric population, by using an online survey. The survey was conducted through a virtual questionnaire divided into four parts: child personal and anthropometric data; oral health; child dietary habits (KIDMED test); and child lifestyle, before and during COVID-19 lockdown. During the lockdown, only 18.6% of the participants had high adherence to a Mediterranean diet, recording an increase in sweets consumption and the number of meals ( p < 0.001). In terms of lifestyle, the percentage of moderately and vigorously active children decreased (41.4% and 5.0%, respectively) ( p = 0.014). The percentage of children sleeping more than 9 h increased ( p < 0.001). They watched more television programs ( p < 0.001). Regarding oral hygiene, children did not change their brushing habits ( p = 0.225). The percentage of children using non-fluoridated toothpaste was higher (6.4%), and no changes were observed ( p > 0.05). In some cases, dental pain and abscesses were declared (10% and 2.7%, respectively). This study confirms the need for campaigns to promote hygiene and dental care in combination with food education for a correct habit and promotion of a healthy and sustainable dietary style.

The COVID-19 pandemic has had a huge impact on the population with consequences on lifestyles. The aim of the study was to analyse the relationship between eating habits, mental and emotional mood. A survey was conducted online during social isolation, from 24 April to 18 May 2020, among the Italian population. A total of 602 interviewees were included in the data analysis. A high percentage of respondents experienced a depressed mood, anxious feelings, hypochondria and insomnia (61.3%, 70.4%, 46.2% and 52.2%). Almost half of the respondents felt anxious due to the fact of their eating habits, consumed comfort food and were inclined to increase food intake to feel better. Age was inversely related to dietary control (OR = 0.971, p = 0.005). Females were more anxious and disposed to comfort food than males ( p < 0.001; p < 0.001). A strength of our study was represented by the fact that the survey was conducted quickly during the most critical period of the Italian epidemic lockdown. As the COVID-19 pandemic is still ongoing, our data need to be confirmed and investigated in the future with larger population studies.

Molecular analysis of 289 chromosomes has been performed in a cohort of phenylketonuria (PKU) patients whose ancestors lived in five Italian regions, Calabria, Campania, Piemonte, Puglia/Basilicata and Sicilia. Phenylalaninehydroxylase (PAH) gene mutations and minihaplotypes (combinations of PAH gene STR and VNTR systems) have been determined for 78.5 and 64%, respectively, of the chromosomes studied. 21 different minihaplotypes and 24 PKU mutations were found. Heterogeneity tests carried out for the frequencies of mutations and minihaplotypes show that the distribution of eight mutations and four minihaplotypes is statistically heterogeneous in the five Italian regions. Although the evolutionary rate of microsatellites or the age of these mutations is difficult to estimate with accuracy, our findings taken together show a genetic stratification of the Italian population. These results rule out allelic homogeneity of PKU at the molecular level between regions of Italy, yet minihaplotype data may be of practical use for a multistep approach to PAH gene genotyping., (Copyright 2001 S. Karger AG, Basel)

The analysis of short tandem repeat (STR) systems usually relies on polyacrylamide gel electrophoresis analysis followed by visualization with silver staining or autoradiography. Both these techniques may not be suitable for clinical laboratories. We developed a simple procedure based on the visualization of STR alleles by ethidium bromide staining. The 4-bp STR system analysed is located in the human phenylalanine hydroxylase gene. Alleles differing by 4 bp are clearly separated independently of the size of the amplified fragments and homozygous samples are easily identified by comparison of the relative intensity of the electrophoretic bands. This method could be applied to the analysis of other STR systems located in different genetic loci by carefully changing the electrophoretic conditions.

RNA single-strand conformation polymorphism (rSSCP) is a recently developed method for detecting genetic defects. This technique requires DNA amplification with a polymerase chain reaction making use of one T7 promoter-containing primer. Amplification products are subsequently transcribed in vitro and the labelled transcripts are analysed for single-strand conformation changes. rSSCP has been applied to mutation screening of the phenylalanine hydroxylase gene and rBAT cDNA, from PKU and cystinuric patients, respectively. Experimental evidence shows that 83% and 86% of screened PKU and cystinuric mutations, respectively, give rise to detectable rSSCP signals. Thus, results obtained show that RNA single-strand conformation polymorphism analysis is generally applicable and is a suitable technique for detecting genetic disease causing mutations, both in basic research and in clinical practice.

In order to identify the molecular basis of phenylketonuria (PKU) in Italy, we screened the entire coding sequence of the phenylalanine hydroxylase gene in 20 Italian PKU patients, whose origins are scattered throughout Italy. The frequency of each identified mutation and of 5 other European mutations was determined within a panel of 92 Italian PKU patients. This approach allowed us to identify 20 different PKU mutations and characterize 64% of the Italian PKU chromosomes. Eleven mutations (IVS10nt546, L48S, R158Q, R261Q, P281L, R261X, R252W, delta T55, IVS7nt1, IVS12nt1, Y414C) represent 55.4% of the Italian PKU alleles, the most common mutations being IVS10nt546 (12.4%) and L48S (9%). All the other mutations are very rare. These data confirm the great heterogeneity expected from previous RFLP haplotype studies. Genotype/phenotype correlation allowed for assessment of the clinical impact of the 20 identified mutations.