Overexpression of endogenous retroviruses in children with celiac disease.

Human endogenous retroviruses (HERVs) represent 8% of our genome. Although no longer infectious, they can regulate transcription of adjacent cellular genes, produce retroviral RNAs, and encode viral proteins that can modulate both innate and adaptive immune responses. Based on this, HERVs have been studied and proposed as contributing factors in various autoimmune disorders. Celiac disease (CD) is considered an autoimmune disease, but HERV expression has not been studied in celiac patients. The aim of this study is to assess the transcription levels of pol genes of HERV-H, -K, and -W and of their TRIM28 repressor in WBCs from celiac children and age-matched control subjects. A PCR real-time TaqMan amplification assay was used to evaluate HERV and TRIM28 transcripts with normalization of the results to glyceraldehyde-3-phosphate dehydrogenase. The RNA levels of pol genes of the three HERV families were significantly higher in WBCs from 38 celiac patients than from 51 control subjects. TRIM28 transcription was comparable between the two study populations.Conclusion: Present results show, for the first time, that pol genes of HERV-H, -K, and -W are overexpressed in patients with CD. Given their proinflammatory and autoimmune properties, this suggests that HERVs may contribute to the development of CD in susceptible individuals. What is Known: • Based on this, HERVs have been studied and proposed as contributing factors in various autoimmune disorders. What is New: • Present results show, for the first time, that pol genes of HERV-H, -K, and -W are overexpressed in patients with CD.

A one-school year longitudinal study of secondary school teachers' voice parameters and the influence of classroom acoustics.

Recent literature reports that a large percentage of teachers complain that teaching has an adverse effect on their voice status. Thus, more needs to be done to study their vocal behavior. The objective of this longitudinal study was twofold: to determine changes in the voice use of teachers over a school year, and to study the relationships between voice use and classroom acoustic parameters. Thirty-one teachers from two secondary schools in Turin (Italy) were involved at the beginning of the 2014-2015 school year, and 22 of them also participated at the end of the same school year. The results show that teachers adjust their voices with noise and reverberation. A minimum value of the sound pressure level of voice (SPL) was found at a mid-frequency reverberation time of 0.8 s in both periods. Moreover, the teachers who worked in the worst classroom acoustic conditions showed an increase of 2.3 dB in the mean SPL and a decrease of 10% in the voicing time percentage at the end of the school year. A predictive model that can be used to estimate the mean SPL from the background noise level and the reverberation time, based on collected data, is here proposed.

Management of Acute Bronchiolitis in Spoke Hospitals in Northern Italy: Analysis and Outcome.

Bronchiolitis is an acute viral infection of the lower respiratory tract that affects infants and young children. Respiratory syncytial virus (RSV) is the most common causative agent; however, other viruses can be involved in this disease. We retrospectively reviewed the clinical features of infants aged less than 12 months hospitalized for acute bronchiolitis in our Pediatric Units of Chivasso, Cirié, and Ivrea in Piedmont, Northern Italy, over two consecutive bronchiolitis seasons (September 2021-March 2022 and September 2022-March 2023). Patient-, disease-, and treatment-related variables were analyzed. The probability of therapeutic success (discharge home) was 96% for all patients (93% for RSV vs. 98% for non-RSV patients, p > 0.05). Among 192 patients, 42 infants (22%) underwent high-flow oxygen support (HFNC), and only 8 (4%) needed to be transferred to our hub referral hospital. Factors associated with hub hospital transfer were the age under 1 month and the failure of HFNC. The wide and increasing use of HFNC in pediatric inpatients improved the management of bronchiolitis in Spoke hospitals, reducing transfer to a hub hospital provided with Intensive Care Units.

Not only Alagille syndrome. Syndromic paucity of interlobular bile ducts secondary to HNF1ß deficiency: a case report and literature review.

BACKGROUND: paucity of interlobular bile ducts is an important observation at liver biopsy in the diagnostic work-up of neonatal cholestasis. To date, other than in the Alagille syndrome, syndromic paucity of interlobular bile ducts has been documented in four cholestatic neonates with HFN1ß mutations. A syndromic phenotype, known as renal cysts and diabetes syndrome (RCAD), has been identified. This is usually characterized by a wide clinical spectrum, including renal cysts, maturity-onset diabetes of the young, exocrine pancreatic insufficiency, urogenital abnormalities and a not well established liver involvement. Herein we report a novel case of paucity of interlobular bile ducts due to an HFN1ß defect. CASE PRESENTATION: A 5-week-old boy was admitted to our department for cholestatic jaundice with increased gamma-glutamyl transpeptidase and an unremarkable clinical examination. He had been delivered by Caesarian section at 38 weeks' gestation from unrelated parents, with a birth weight of 2600 g (3rd percentile). Screening for cholestatic diseases, including Alagille syndrome, was negative except for a minor pulmonary artery stenosis at echocardiography and a doubt of a thoracic butterfly hemivertebra. The finding of hyperechogenic kidneys with multiple bilateral cortical cysts at ultrasound examination, associated with moderately impaired renal function with proteinuria, polyuria and metabolic acidosis, was suggestive of ciliopathy. A liver biopsy was performed revealing paucity of interlobular bile ducts, thus the diagnosis of Alagille syndrome was reconsidered. Although genetic tests for liver cholestatic diseases were performed with negative results for Alagille syndrome (JAG1 and NOTCH2), a de-novo missense mutation of HNF1ß gene was detected. At 18 months of age our patient has persistent cholestasis and his itching is not under satisfactory control. CONCLUSIONS: Alagille syndrome may not be the only syndrome determining paucity of interlobular bile ducts in neonates presenting with cholestasis and renal impairment, especially in small for gestational age newborns. We suggest that HNF1ß deficiency should also be ruled out, taking into consideration HNF1ß mutations, together with Alagille syndrome, in next generation sequencing strategies in neonates with cholestasis, renal impairment and/or paucity of interlobular bile ducts at liver biopsy.