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IntroductionIntrauterine transfusion is the treatment for fetal anemia resulting from maternal alloimmunization, infections (parvovirus B19 and cytomegalovirus), single demise of a monochorionic twin, chorioangioma, and other rare conditions. Fetal analgesia is mandatory to reduce movement and pain perception during the procedure. This study aims to evaluate perinatal outcomes for such procedures, following the routine use of fetal analgesia in our clinical practice.Materials and methodsRetrospective analysis of cases from 2009 to 2022, including all confirmed fetal anemia with fetal blood sampling. After fetal analgesia, Rh-negative concentrated red blood cells were transfused, with ultrasonographic follow-up 24 h and 1 week later. In case of suspected brain lesion, magnetic resonance imaging was performed. Elective delivery was considered in case of persistent anemia after 34 weeks. Post-natal follow-up and comprehensive obstetric and perinatal outcomes data were collected.ResultsAltogether 59 anemic fetuses were included, with 34 (57.6%) being hydropic. The causes of anemia were maternal alloimmunization (22, 37.3%), infections (13, 22%), monochorionicity (10, 16.9%), rare conditions (9, 15.3%), and two chorioangiomas (3.4%). The median gestational age at the procedure was 25.2 weeks (18–32 weeks), with no related preterm premature rupture of membranes (

A doll made of wood found in Alba Fucens (IT) is now preserved in the reserves of the Soprintendenza Archeologia, Belle arti e Paesaggio per le province di Chieti e Pescara, Museo Paludi in Celano (L’Aquila). Its study was carried out within the framework of the research project led by the University of Fribourg “Greek and Roman articulated dolls (10th century BC/7th century AD). Archaeological and anthropological approaches”. The doll has been exceptionally preserved due to the damp conditions of the soil. This object confirms that, in addition to the widely documented ivory and bone roman dolls, wooden pupae were also used. The hairstyle on the doll’s head is a very schematized rendering of a type of hairstyle adopted in an advanced stage of the age of the emperors of the Severan dynasty and documented on the portraits of some women of the family. It is therefore possible to propose for the doll a dating to the first decades of the 3rd century AD.

The preservation of genetic variability of autochthonous poultry breeds is crucial in global biodiversity. A recent report revealed small breed size and potential risk of extinction of all native Italian poultry breeds; therefore, a correct assessment of their genetic diversity is necessary for a suitable management of their preservation. In this work, we provided an overview of the contribution to poultry biodiversity of some Italian autochthonous breeds reared in conservation centers devoted to local biodiversity preservation. The level of genetic diversity, molecular kinship, inbreeding, contribution to overall genetic diversity, and rate of extinction of each breed were analyzed with a set of 14 microsatellite loci in 17 autochthonous chicken breeds. To evaluate genetic variability, total number (Na), and effective number (Ne) of alleles, observed (Ho) and expected (He) heterozygosity, and F (Wright’s inbreeding coefficient) index were surveyed. The contribution of each analyzed breed to genetic diversity of the whole dataset was assessed using MolKin3.0; global genetic diversity and allelic richness contributions were evaluated. All the investigated loci were polymorphic; 209 alleles were identified (94 of which private alleles). The average number of alleles per locus was 3.62, and the effective number of alleles was 2.27. The Ne resulted lower in all breeds due to the presence of low-frequency alleles that can be easily lost by genetic drift, thus reducing the genetic variability of the breeds, and increasing their risk of extinction. The global molecular kinship was 27%, the average breed molecular kinship was 53%, and the mean inbreeding rate 43%, with a self-coancestry of 78%. Wright’s statistical analysis showed a 41% excess of homozygous due to breed genetic differences (34%) and to inbreeding within the breed (9%). Genetic variability analysis showed that 11 breeds were in endangered status. The contribution to Italian poultry genetic diversity, estimated as global genetic diversity, and ranged from 30.2 to 98.5%. In conclusion, the investigated breeds maintain a unique genetic pattern and play an important role in global Italian poultry biodiversity, providing a remarkable contribution to genetic variability.

The slaughter performance and meat quality of two native Italian chicken breeds, Bionda Piemontese (BP, n = 64) and Bianca di Saluzzo (BS, n = 64), were investigated. Two-way ANOVA, considering breed, sex, and their interaction, was used to compare the properties of birds slaughtered at 5, 6, 7, and 8 months of age. Subsequently, data were analyzed using one-way ANOVA and the Duncan test to evaluate the differences between slaughter ages. The BP breed produced a better carcass yield than BS at 5, 7, and 8 months of age (p < 0.05). Breast moisture and crude protein contents were influenced by gender, and were higher in males than in females (p < 0.05). By contrast, the crude fat content was higher in females than in males (p < 0.05). The saturated fatty acid content of breast meat increased as the birds aged in both breeds (p < 0.05). The polyunsaturated fatty acid content of both breast and thigh meat was higher in males than in females (p < 0.001 and p < 0.05, respectively). In general, slaughtering at 7 months was associated with the best slaughter and meat quality characteristics in both breeds. Moreover, from a nutritional point of view, the characteristics of the meat from male birds were preferable to those of meat from females.

La presentazione di due inediti dadi di forma parallelepipeda allungata, rispettivamente in palco di cervide e avorio, conservati presso il Civico Museo Archeologico di Milano, è occasione per una breve nota sull’evoluzione della forma del dado.

Il tema affrontato in questo contributo è l’analisi di una particolare classe di arredi di età romana, i letti con rivestimento in osso e avorio, per evidenziarne le caratteristiche tipologiche e i limiti della diffusione. In particolare, considerando una questione finora trattata solo marginalmente, si è operata una distinzione fra gli esemplari provenienti da contesti di abitato e quelli da contesti funerari, per individuare le caratteristiche proprie dell’una e dell’altra serie. Il censimento dei letti in osso e avorio provenienti da contesti non funerari, che potevano avere funzioni tricliniari e cubiculari nelle domus, ha evidenziato che le attestazioni sono piuttosto rare e riguardano quasi esclusivamente i fulcra e in particolare i culmini, che risultano essere soprattutto di due tipi: a testa di uccello acquatico e a testa di sileno. Per quanto riguarda la Cisalpina si è proposta invece un’analisi più approfondita delle attestazioni, con un confronto diretto tra le testimonianze da necropoli e da ambiente domestico.

Background and Aims: the study aimed to investigate the circulation of influenza viruses and SARS-CoV-2 in the 2022-23 and 2023-24 influenza seasons in the provinces of Lucca and Massa Carrara in the northwest of the Tuscany region. Materials and Methods: a retrospective observational study was conducted on adult and pediatric patients who accessed hospital facilities in the considered area during the influenza periods (from September to April) of 2022-23 and 2023-24. Results: the 2022-23 influenza season was characterized by the circulation of the A/H3N2 influenza virus (84% of the total), with a peak of positive samples from weeks 42 to 52 in 2022. Instead, the influenza A/(H1N1)pdm09 virus was responsible for 94% of influenza infections in the 2023-24 season, with a peak of positive samples between weeks 52 of 2023 and 3 of 2024. Conclusions: effective virological diagnostics and constant monitoring of circulating viruses are mandatory to correctly address therapy and contain the viral circulation in the different influenza seasons.

Children with single-sided deafness (SSD) may experience delays in language and speech development. Reduced speech discrimination and poor sound localization abilities in young SSD patients may result in greater cognitive efforts required to focus and process auditory information, as well as increased listening-related fatigue. Consequently, these children can have a higher risk of academic failure and are often in need of extra help at school. Recently, cochlear implants (CIs) have been introduced as a rehabilitative option for these children, but their effectiveness is still a topic of debate. A literature review was performed according to PRISMA guidelines, searching the Medline database from inception to October 2023. The research identified nine papers that met the inclusion criteria. Data extracted from the selected studies included 311 children affected by SSD and cochlear implants. The reported audiological outcomes were further analyzed. Overall, a high level of satisfaction was described by parents of children with SSD and CI, and those who received a CI under the age of 3 presented better results. However, a proportion of patients did not use the device daily. Our review highlights the possible, and still controversial, role of CI for the hearing rehabilitation of children with unilateral deafness, underlining the need for further research in this field. To date, careful and comprehensive counseling with the child and the family is necessary before considering this option.

Objectives: The present study aims to identify potential predictive factors for developing sensorineural hearing loss (SNHL) in individuals with congenital Cytomegalovirus (cCMV) infection. Methods: A retrospective study was performed on 50 subjects with cCMV infection (symptomatic and asymptomatic), followed at the Audiology Service of Sant’Anna Hospital (University Hospital of Ferrara). The following data were analyzed: the type of maternal Cytomegalovirus (CMV) infection (primary versus non-primary), time of in utero infection, systemic signs and symptoms or laboratory test anomalies due to cCMV infection, and signs and symptoms of central nervous system (CNS) involvement at birth. In particular, brain ultrasonography and encephalic magnetic resonance imaging (MRI) were evaluated, searching for possible links between imaging findings and SNHL. Results: The statistical analysis showed a significantly higher risk of developing SNHL in subjects with signs and symptoms of CNS involvement at birth (p = 0.009 *). The presence of brain MRI abnormalities significantly influenced the onset of SNHL in patients with symptomatic cCMV infection (p = 0.012 *). Brain ultrasonography, the type of maternal CMV infection, systemic signs/symptoms and laboratory test anomalies at birth, and sex resulted in nonsignificant correlations in the analysis. Conclusions: The presence of neurological symptoms at birth and of detectable abnormalities in brain MRI are predictors of SNHL developing in symptomatic cCMV infection. Further investigation on this topic is necessary.

The aim of this review is to assess the utility of circulating HPV tumor DNA (ctHPVDNA) clearance in the monitoring of molecular residual disease in HPV-related oropharyngeal squamous cell carcinoma (OPSCC) patients. Recently, ctHPVDNA in patient plasma was found to be a promising biomarker for HPV OPSCC. Changes in this biomarker appear to be associated with treatment response and may be useful for identifying molecular residual disease. A review of the literature was performed using PubMed/MEDLINE, EMBASE, and Cochrane Library databases according to the PRISMA criteria for scoping reviews (from 2017 to July 2024). A total of 5 articles and 562 patients have been included. Three studies examine the role of ctHPVDNA clearance in CRT, while the remaining two studies consider surgery as a treatment option. The results of this scoping review indicate that ctHPVDNA has a potential role to serve as a valuable biomarker in the assessment of molecular residual disease. Further studies are required to confirm the efficacy of this marker for stratifying this group of patients.

Abstract Background Sudden sensorineural hearing loss (SSNHL) is an abrupt loss of hearing, still idiopathic in most of cases. Several mechanisms have been proposed including genetic and epigenetic interrelationships also considering iron homeostasis genes, ferroptosis and cellular stressors such as iron excess and dysfunctional mitochondrial superoxide dismutase activity. Results We investigated 206 SSNHL patients and 420 healthy controls for the following genetic variants in the iron pathway: SLC40A1 − 8CG (ferroportin; FPN1), HAMP − 582AG (hepcidin; HEPC), HFE C282Y and H63D (homeostatic iron regulator), TF P570S (transferrin) and SOD2 A16V in the mitochondrial superoxide dismutase-2 gene. Among patients, SLC40A1 − 8GG homozygotes were overrepresented (8.25% vs 2.62%; P = 0.0015) as well SOD2 16VV genotype (32.0% vs 24.3%; P = 0.037) accounting for increased SSNHL risk (OR = 3.34; 1.54–7.29 and OR = 1.47; 1.02–2.12, respectively). Moreover, LINE-1 methylation was inversely related (r 2 = 0.042; P = 0.001) with hearing loss score assessed as pure tone average (PTA, dB HL), and the trend was maintained after SLC40A1 − 8CG and HAMP − 582AG genotype stratification (Δ SLC40A1 = + 8.99 dB HL and Δ HAMP = − 6.07 dB HL). In multivariate investigations, principal component analysis (PCA) yielded PC1 (PTA, age, LINE-1, HAMP, SLC40A1) and PC2 (sex, HFE C282Y , SOD2, HAMP) among the five generated PCs, and logistic regression analysis ascribed to PC1 an inverse association with moderate/severe/profound HL (OR = 0.60; 0.42–0.86; P = 0.0006) and with severe/profound HL (OR = 0.52; 0.35–0.76; P = 0.001). Conclusion Recognizing genetic and epigenetic biomarkers and their mutual interactions in SSNHL is of great value and can help pharmacy science to design by pharmacogenomic data classical or advanced molecules, such as epidrugs, to target new pathways for a better prognosis and treatment of SSNHL.

A relationship between microvascular disorders and sensorineural hearing loss (SNHL) has been widely proposed. The vascular hypothesis, theorized for the onset of sudden SNHL (SSNHL), is among the most acknowledged: a localized acute cochlear damage, of ischemic or haemorrhagic nature, could be considered a causative factor of SSNHL. The aim of this review is to assess (i) the effect on hearing in patients affected by blood coagulation disorders (prothrombotic or haemorrhagic) and (ii) the possible etiopathogenetic mechanisms of the related hearing loss. A PRISMA-compliant review was performed. Medline, Embase, and Cinahl databases were searched from inception to 31 January 2023, and a total of 14 studies have been included in the review. The available data suggest that it is possible to consider clotting disorders as a potential condition at risk for sensorineural hearing loss; in particular, coagulation tests and eventually the assessment of genetic and acquired prothrombotic factors should be recommended in patients with SSNHL. Also, an audiological evaluation should be recommended for patients with blood coagulation disorders presenting cochlear symptoms, especially in those suffering from clotting diseases.

Background: The upper airways of cystic fibrosis (CF) persons are an evolutionary niche where genetically adapted bacterial strains are selected for lung infection. The microbiological studies conducted up to now on the upper airways are not easily comparable. Methods: Using classical culture methods, we simultaneously studied the microbiological status of upper and lower airways in persons not chronically infected with P. aeruginosa. Each person had a single upper airways sampling and a concomitant lower airways sampling. Lower airways sampling was performed by oropharyngeal swab or sputum collection. Using a quasi-experimental design of study, we evaluated the performance of 2 different upper airways’ sampling methods, nasal lavage according to method described by Mainz or nasal lavage with a rhino-set. Pain was measured with appropriate scales. Results: A total of 194 persons were enrolled in this study. Pathogenic flora was found in 128 (6.6%) of 194 upper airways samples and in 164 (84.6%) lower airways samples. A statistically significant difference between the upper airways and the lower airways was found in the isolation of S. aureus and non-fermenter gram negatives. Nasal lavage according to Mainz resulted in the isolation of more non-fermenter gramnegatives than the rhino-set (p < 0.05). No differences were found in the pain caused bythe two methods. Conclusions: In our study population, cultures of the upper airway and lower airway differ in CF persons. In people sampled with nasal lavage according to Mainz more non-fermenter gram negatives were detected than with rhino-set. The two sampling methods were comparable with regard to the caused pain, nasal lavage according to Mainz method being quicker to perform.

The aim of this review is to investigate the state of the art among the association between Obstructive sleep apnea (OSA) and laryngomalacia, analyzing the epidemiology, the diagnostic tools, and the possible treatments available to affected patients. Laryngomalacia, characterized by the malacic consistency of the epiglottis with a tendency to collapse during inspiratory acts, producing a characteristic noise known as stridor, is a common condition in infants and particularly in those affected by prematurity, genetic diseases, craniofacial anomalies, and neurological problems. Congenital laryngomalacia, presenting with stridor within the first 15 days of life, is often self-limiting and tends to resolve by 24 months. OSA is not only a consequence of laryngomalacia but also exacerbates and perpetuates the condition. Currently, the treatments reported in the literature are based (i) on medical therapies (including watchful waiting) and (ii) on surgical treatments. Among the surgical techniques, the most described is supraglottoplasty, performed with the use of cold instruments, CO2 LASER, transoral robotic surgery, or the microdebrider.

The course of COVID-19 infection may be complicated by a variety of neurological manifestations. Since the inner ear is vulnerable to viruses, sensorineural hearing loss (SNHL) has been reported to occur following the SARS-CoV-2 infection, often resulting in long-term morbidity and worsening the quality of life. The interest in how the virus affects the inner ear has gradually increased since the pandemic’s spread, but little is still known about the SNHL potentially caused by SARS-CoV-2. The aim of this paper is to evaluate the possible association between SNHL and COVID-19 infection, through a systematic literature review. Currently available data suggest that SARS-CoV-2 may hamper cochlear function; however, available reports are still limited. Large cohort and prospective studies are necessary to evaluate the long-term effects of this viral infection in the inner ear.

IntroductionThe impairment of the sense of smell is often related to chronic rhinosinusitis (CRS) with or without nasal polyps (CRSwNP, CRSsNP). CRSwNP is a frequent condition that drastically worsens the quality of life of those affected; it has a higher prevalence than CRSsNP. CRSwNP patients experience severe loss of smell with earlier presentation and are more likely to experience recurrence of their symptoms, often requiring revision surgery.MethodsThe present study performed a multicentric data collection, enrolling 811 patients with CRS divided according to the inflammatory endotype (Type 2 and non-Type 2). All patients were referred for nasal endoscopy for the assessment of nasal polyposis using nasal polyp score (NPS); Sniffin’ Sticks olfactory test were performed to measure olfactory function, and SNOT-22 (22-item sinonasal outcome test) questionnaire was used to assess patients’ quality of life; allergic status was evaluated with skin prick test and nasal cytology completed the evaluation when available.ResultsData showed that Type 2 inflammation is more common than non-type 2 (656 patients versus 155) and patients suffer from worse quality of life and nasal polyp score. Moreover, 86.1% of patients with Type 2 CRSwNP were affected by a dysfunction of the sense of smell while it involved a lesser percentage of non-Type 2 patients. Indeed, these data give us new information about type-2 inflammation patients’ characteristics.DiscussionThe present study confirms that olfactory function weights on patients’ QoL and it represents an important therapeutic goal that can also improve patients’ compliance when achieved. In a future – and present – perspective of rhinological precision medicine, an impairment of the sense of smell could help the clinician to characterize patients better and to choose the best treatment available.

Abstract Background Inflammatory blood markers have been associated with oncological outcomes in several cancers, but evidence for head and neck squamous cell carcinoma (HNSCC) is scanty. Therefore, this study aims at investigating the association between five different inflammatory blood markers and several oncological outcomes. Methods This multi-centre retrospective analysis included 925 consecutive patients with primary HPV-negative HNSCC (median age: 68 years) diagnosed between April 2004 and June 2018, whose pre-treatment blood parameters were available. Neutrophil to lymphocyte ratio (NLR), platelet to lymphocyte ratio (PLR), lymphocyte to monocyte ratio (LMR), systemic inflammatory marker (SIM), and systemic immune-inflammation index (SII) were calculated; their associations with local, regional, and distant failure, disease-free survival (DFS), and overall survival (OS) was calculated. Results The median follow-up was 53 months. All five indexes were significantly associated with OS; the highest accuracy in predicting patients’ survival was found for SIM (10-year OS = 53.2% for SIM

Background: While gender differences of several diseases have been already described in the literature, studies in the area of hyperacusis are still scant. Despite the fact that hyperacusis is a condition that severely affects the patient’s quality of life, it is not well investigated; a comprehensive understanding of its features, eventually including gender differences, could be a valuable asset in developing clinical intervention strategies. Aim: To evaluate gender differences among subjects affected by hyperacusis. Methods: A literature search was conducted focused on adult patients presenting hyperacusis, using the MedLine bibliographic database. Relevant peer-reviewed studies, published in the last 20 years, were sought. A total of 259 papers have been identified, but only 4 met the inclusion criteria. The review was performed according to the Preferred Reporting Items for Systematic Reviews and Meta-Analysis (PRISMA) guidelines. Results: The four selected papers included data from 604 patients; of these, 282 subjects resulted as affected by hyperacusis (125 females and 157 males). Questionnaires for analyzing factors affecting the attentional, social and emotional variance of hyperacusis (such as VAS, THI, TSCH, MASH) were administered to all included subjects. The data suggest that there are no hyperacusis gender-specific differences in the assessed population samples. Conclusions: The literature data suggest that males and females exhibit a similar level of hyperacusis. However, in light of the subjective nature of this condition, the eventual set up of further tests to assess hyperacusis features could be very helpful in the near future.

Abstract Background Killian polyp (KP) is a benign lesion that arises from the maxillary sinus. The etiology of KP is unknown. The aim of this study was to investigate the potential involvement of human papilloma- (HPV) and polyoma-viruses (HPyV) infections in the onset of KP. Methods DNA from antral (n = 14) and nasal (n = 14) KP fractions were analyzed for HPV and HPyV sequences, genotypes, viral DNA load and physical status along with expression of viral proteins and p16 cellular protein. Results The oncogenic HPV16 was detected in 3/14 (21.4%) antral KPs, whilst nasal KPs tested HPV-negative (0/14). The mean HPV16 DNA load was 4.65 ± 2.64 copy/104 cell. The whole HPV16 episomal genome was detected in one KP sample, whereas HPV16 DNA integration in two KPs. P16 mRNA level was lower in the KP sample carrying HPV16 episome than in KPs carrying integrated HPV16 and HPV- negative KPs (p

Background and aim: Several viruses have previously been reported to be responsible for congenital hearing loss; therefore, since the beginning of the SARS-CoV-2 infection pandemic, various reports have investigated a possible link. The aim of this review is to assess the possible link between maternal COVID-19 infection and congenital hearing loss. Methods: This systematic review was performed using PRISMA criteria, searching Medline and Embase databases from March 2020 to February 2023. A total of 924 candidate papers were identified; however, considering the specific selection criteria, only nine were selected for additional analysis. Results: The overall number of children born from mothers infected with COVID-19 during pregnancy identified through this review was 1687. The confirmed cases of hearing loss were 0.7% (12/1688); a description of its nature (sensorineural vs. conductive) is missing in the selected studies, and the follow-up period is variable across the analyzed papers. Surprisingly, a large proportion of false positives were recorded at the first stage of screening, which resulted normal at the re-test. Conclusions: Currently, a correlation between congenital hearing loss and SARS-CoV-2 infection cannot be definitively established. Further studies are desirable to provide additional evidence on this topic.

This prospective pilot study aimed to evaluate whether cerebral inflow and outflow abnormalities assessed by ultrasonographic examination could be associated with recurrent benign paroxysmal positional vertigo (BPPV). Twenty-four patients with recurrent BPPV, affected by at least two episodes, and diagnosed according to American Academy of Otolaryngology–Head and Neck Surgery (AAO–HNS) criteria, evaluated at our University Hospital, between 1 February 2020 and 30 November 2021, have been included. At the ultrasonographic examination, 22 of 24 patients (92%) reported one or more alterations of the extracranial venous circulation, among those considered for the diagnosis of chronic cerebrospinal venous insufficiency (CCSVI), although none of the studied patients were found to have alterations in the arterial circulation. The present study confirms the presence of alterations of the extracranial venous circulation in recurrent BPPV; these anomalies (such as stenosis, blockages or regurgitation of flow, or abnormal valves, as per the CCSVI) could cause a disruption in the venous inner ear drainage, hampering the inner ear microcirculation and then possibly causing recurrent otolith detachment.

Background. Defects of mitochondrial DNA (mtDNA) involved in the function of the mitochondrial electron transport chain can result in primary mitochondrial diseases (PMDs). Various features can influence the phenotypes of different PMDs, with relevant consequences on clinical presentation, including the presence of hearing impairment. This paper aims to describe the hearing loss related to different PMDs, and when possible, their phenotype. Methods. A systematic review was performed according to PRISMA guidelines, searching Medline until December 2022. A total of 485 papers were identified, and based on specified criteria, 7 were included in this study. Results. A total of 759 patients affected by PMDs and hearing loss were included. The age of patients ranged from 2 days to 78 years old, and the male-to-female ratio was 1.3:1. The percentage of subjects affected by hearing loss was 40.8%, (310/759), and in most cases, hearing impairment was described as sensorineural, bilateral, symmetrical, and progressive, with different presentations depending on age and syndrome severity. Conclusions. PMDs are challenging conditions with different clinical phenotypes. Hearing loss, especially when bilateral and progressive, may represent a red flag; its association with other systemic disorders (particularly neuromuscular, ocular, and endocrine) should alert clinicians, and confirmation via genetic testing is mandatory nowadays.

Background: Improved therapy in CF has led to an overall improvement in nutritional status. The objectives of our study are: to cross-sectionally assess nutritional status and serum levels of fat-soluble vitamins; to retrospectively evaluate the efficacy of modulators on nutritional status and fat-soluble vitamin levels. Methods: In patients younger than 2 years of age, we evaluated growth, in patients aged 2–18 years, we assessed BMI z-scores, and in adults, we assessed absolute BMI values. Levels of 25(OH)D, vitamins A, and E were measured. Results: A cross-sectional analysis was conducted on 318 patients, 109 (34.3%) with pancreatic sufficiency. Only three patients were under 2 years old. In 135 patients aged 2–18 years, the median BMI z-score was 0.11, and 5 (3.7%) patients had malnutrition (z-score ≤ 2SD). In 180 adults, the median BMI was 21.8 kg/m2. Overall, 15 (13.7%) males (M) and 18 (25.3%) females (F) were underweight (18 < BMI > 20); 3 (2.7%) M and 5 (7.0%) F had a BMI < 18. Suboptimal 25(OH)D levels were found in patients with pancreatic insufficiency. The prevalence of deficiency of vitamins A and E is low. After one year of treatment with modulators, the increase in BMI was more consistent (M: 1.58 ± 1.25 kg/m2 F: 1.77 ± 1.21 kg/m2) in elexacaftor/tezacaftor/ivacaftor (ETI)-treated patients compared with other modulators, with a significant increase in levels of all fat-soluble vitamins. Conclusions: Malnutrition is present in a limited number of subjects. The prevalence of subjects with suboptimal 25(OH)D levels is high. ETI showed a beneficial effect on nutritional status and circulating levels of fat-soluble vitamins.

Colistin represents a last-line treatment option for infections caused by multidrug resistant Gram-negative pathogens, including Pseudomonas aeruginosa. Colistin resistance generally involves the modification of the lipid A moiety of lipopolysaccharide (LPS) with positively charged molecules, namely phosphoethanolamine (PEtN) or 4-amino-4-deoxy-L-arabinose (Ara4N), that reduce colistin affinity for its target. Several lines of evidence highlighted lipid A aminoarabinosylation as the primary colistin resistance mechanism in P. aeruginosa, while the contribution of phosphoethanolamination remains elusive. PEtN modification can be due to either endogenous (chromosomally encoded) PEtN transferase(s) (e.g., EptA in P. aeruginosa) or plasmid borne MCR enzymes, commonly found in enterobacteria. By individually cloning eptA and mcr-1 into a plasmid for inducible gene expression, we demonstrated that MCR-1 and EptA have comparable PEtN transferase activity in P. aeruginosa and confer colistin resistance levels similar to those provided by lipid A aminoarabinosylation. Notably, EptA, but not MCR-1, negatively affects P. aeruginosa growth and, to a lesser extent, cell envelope integrity when expressed at high levels. Mutagenesis experiments revealed that PEtN transferase activity does not account for the noxious effects of EptA overexpression, that instead requires a C-terminal tail unique to P. aeruginosa EptA, whose function remains unknown. Overall, this study shows that both endogenous and exogenous PEtN transferases can promote colistin resistance in P. aeruginosa, and that PEtN and MCR-1 mediated resistance has no impact on growth and cell envelope homeostasis, suggesting that there may be no fitness barriers to the spread of mcr-1 in P. aeruginosa.

Background. Otosclerosis can occur during childhood, resulting in the early onset of conductive hearing loss. The approach to a child with otosclerosis can present some difficulties in terms of diagnosis and treatment, and the literature on juvenile otosclerosis (JO) is still relatively limited. Aim. To explore the current approaches to JO, in order to clear the management of this condition and evaluate the outcomes and the possible complications of surgical treatment. Methods. A systematic review was performed according to PRISMA guidelines, searching Medline and Embase from January 2002 through to 30 September 2022. A total of 759 papers were identified but based on specified criteria, nine were included in this study. Results. There were 94 children affected by JO and treated by stapes surgery. According to the available data, Male: Female ratio was 1:3–4, whilst the mean ages ranged from 10 to 16.3 years at the time of stapes surgery. After stapes surgery, the target of ABG < 10 dB was achieved in most of the patients. Overall, the 4 complications were reported (4/94= 4%): stenosis of the external ear canal, deterioration of hearing, anacusis with vertigo, tinnitus. Conclusions. The heterogeneity of the available studies does not allow us to draw straight conclusions on this topic, currently. More data about the natural history of the disease in children could help in approaching the treatment correctly, and possibly in drawing guidelines. Studies with a prolonged follow-up could be helpful for assisting clinicians and families in taking the most favorable decision about treatment.

Pancreatitis-Associated Protein (PAP)-based Cystic Fibrosis (CF) newborn bloodspot screening (NBS) protocols detect less CFTR-Related Metabolic Syndrome (CRMS)/CF Screen Positive, Inconclusive Diagnosis (CFSPID). We prospectively evaluated the impact of PAP as the second step of the CF NBS protocol, before the CFTR genetic analysis, on NBS outcomes and CRMS/CFSPID detection in the Tuscany region, Italy. In parallel to the usual protocol (IRT/DNA, protocol 1), PAP was analyzed in IRT-positive infants (IRT/PAP/DNA, protocol 2) from 1 June 2020 until 31 May 2022. We defined an infant as NBS positive if PAP was >1.8 μg/L for IRT value 99th percentile-100 μg/L or >0.6 μg/L for IRT value >100 μg/L. To increase the positive predictive value (PPV) of protocol 2, we retrospectively lowered the upper IRT range value from 100 to 90 μg/L (modified protocol 2). We identified 8 CF and 13 CRMS/CFSPID with protocol 1, 5 CF and 5 CRMS/CFSPID with protocol 2 and 8 CF and 5 CRMS/CFSPID with modified protocol 2. With the PAP-based protocols, we observed a reduction of sweat tests, healthy carrier detection and a significant increase in PPV to 15.38%. Further data are needed in order to evaluate the outcomes of CRMS/CFSPID after a long follow-up.

Background. Data in the literature report that a number of studies have attempted to identify the exact location of the cortical olfaction representation, searching for evidence suggesting that sniffing odors can initiate a primary activation of the piriform cortex and the insula. Nowadays, due to the SARS-CoV-2 (COVID-19) outbreak, the functional study of the olfactory system could offer a better understanding of the physiopathology of olfactory perception, elucidating better the possible site(s) of damage induced by the COVID-19 infection. The aim of this paper was to evaluate brain maps generated from functional Magnetic Resonance Imaging (fMRI) data, collected from healthy individuals in response to the same olfactory stimulus. Methods. A total of 45 healthy volunteers, without history and/or no clinical signs of sinonasal disease and without history and/or presence of olfactory dysfunction underwent fMRI assessment. Subjects were presented with the same odorous stimuli at specific intervals. fMRI generated brain maps were used in the identification of different cortical areas, involved in the stimuli perception. Results. The fMRI brain maps showed that odorous stimuli activate primarily the left anterior insula (in 35/45 cases or 77.8%). Other activated areas include: the low temporal gyri, the middle and superior temporal gyri, the frontal and piriform cortex, the anterior cingulate gyrus, the parahippocampal gyrus, the temporopolar area, the para-insular area, the subcentral area, the supramarginal gyrus, the occipital cortex and the cerebellum. Conclusions. fMRI resulted as a safe and reliable means to study the perception of olfaction in the cortex. The data of this study suggest that the anterior insula is the main stimulated area when olfactory stimuli are present. This area is always activated, despite the hand and nostril dominance.

Objective: The aim of this study was to evaluate the relationship between age, gender and affected ear, in patients presenting benign paroxysmal positional vertigo. Methods: This was a retrospective study. Data from benign paroxysmal positional vertigo clinical reports (January 2009–December 2014) were analysed. A total of 174 patients affected by benign paroxysmal positional vertigo of the posterior semicircular canal have been identified. Pearson chi-square test has been used to evaluate the probability of benign paroxysmal positional vertigo occurrence in relation to gender and side, within the studied groups. The level of significance was set at a p 65 years. In each group, the right posterior semicircular canal was involved in the majority of cases (group 1 incidence: 12/16; group 2 incidence: 49/79 and group 3 incidence: 52/79). In all three groups, female patients were significantly more affected (9/16 in group 1, 61/79 in group 2 and 55/79 in group 3). Conclusion: Benign paroxysmal positional vertigo is most prevalent in female subjects having an age>40 years and mainly involves the right posterior semicircular canal.