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Thirty-five years of pedigree data has been studied to investigate the role of the Herd Book in maintaining the genetic diversity and control the inbreeding while applying a selection scheme in local cattle breeds. More than 64,000 genealogical records of Maremmana beef cattle born from 1951 to 2019 were used to investigate demographic and genealogical structure of Maremmana breed in a time frame 1980–2015. Along these 35 years, the number of herds in the Herd Book increased 2.5-fold, and the number of pure animals raised from 4,849 to 10,984. The Effective Population Size (Ne) based on inbreeding coefficient (F) rate was 123.5 on average, with large periods under 100 (since 1990 to 2007) or even under 50 (since 2000 to 2005). With the support of the Herd Book, Maremmana recovered from a very critical Ne only in the last timeframe explored attaining a Ne of 380 in 2009, however still critical. The average generation interval for the whole population was 6.31 years, characterized by a larger interval in dams respect to sire (7.16 vs 5.36 years respectively). In 2015, the pedigree completeness index (PCI) over the 6 generation was 94.6% as valuable effect of the raised awareness about data recordings promoted by the Herd Book. In spite of the low population size, the smooth selection pressure (1 out of 10 in sire and 1 out of 2 in dams lines respectively) contributed to keep the inbreeding rate under control, (inbreeding raised from 0% of 1980 to 2.78% in 2015 with an average rate of 0.0725% per year) still improving the genetic make-up of the breed. However, in the last years both the average additive genetic relationships (AGR) and the inbreeding accelerate alarmingly (3.65% in 2017), calling for urgent safeguard measures. Our data support the Herd Book as an effective infrastructure to manage, improve and conserve local genetic resources: contributing to maintain pure animals, stimulate the record of reproductive information, keep inbreeding under observation, incr

This study investigated hearing threshold changes during the first year of corrected age (CA) in infants admitted in a neonatal intensive care unit (NICU). In 5 years, 239 infants with birth weight (BW) ≤ 1,000 gm and/or gestational age (GA) ≤ 30 weeks were enrolled. Hearing was evaluated by oto-acoustic emission (OAEs) before discharge and auditory brainstem response (ABR) within 3 months of CA. Infants affected by unilateral or bilateral hearing loss were addressed to audiological follow-up until definitive diagnosis (within 6 months of CA). Changes in hearing threshold were also carefully analysed. 207 (86.6%) infants had normal hearing while 32 infants (13.4%) showed hearing loss (HL) at the confirmative ABR evaluation (9 mild, 16 moderate, 4 severe, 3 profound). The latter showed lower GA (27.7 ± 2 vs 28.4 ± 1.2; p = 0.0061) and BW (950 ± 390 vs 1,119 ± 326 gm; p = 0.0085). At final evaluation, 15 infants (47%) recovered a normal hearing. HL was confirmed in 17 patients. Among these, 3 infants were addressed to audiological follow-up (one case of mild unilateral hearing loss (UHL) and two with moderate UHL), while in 14 cases (44%) with bilateral sensory neural hearing loss (SNHL) (7 moderate, 4 severe, 3 profound) hearing aids were prescribed. They showed significantly lower GA and longer hospital stay in the NICU in comparison with infants without indication for audiological habilitation (18 infants) (GA 26.2 ± 2.2 weeks vs 28.4 ± 2.4; p = 0.01; NICU stay 132 ± 67 vs 59 ± 7; p = 0.0002). Definitive diagnosis was obtained at 5.9 ± 1.3 months of CA. Our study confirms the importance of audiological surveillance in preterm newborns. Hearing thresholds of preterm infants with hearing loss can change during the first year of CA and we observed normalisation in 47% of our patients. Most vulnerable to permanent SNHL were very preterm infants with a longer NICU stay, while a shorter stay represents a favourable prognostic factor for hearing improvement.

Hereditary autoinflammatory disorders encompass manifold dysfunctions of innate immunity caused by mutations in genes coding for the main characters of the inflammatory scene: most of these conditions have an early onset, ranging from the first days of life to the first decades, and include hereditary periodic fevers, NLRP-related diseases, granulomatous and pyogenic syndromes, which are basically characterized by upturned inflammasome activity and overproduction of bioactive interleukin (IL)-1 beta and other proinflammatory cytokines. The discovery of a causative link between autoinflammation and IL-1 beta release has improved our understanding of the intimate mechanisms of innate immunity, and has likewise led to the identification of extraordinary treatments for many of these disorders.