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1.
Article in English | MEDLINE | ID: mdl-38992192

ABSTRACT

PURPOSE: Middle turbinate (MT) surgery is extremely common during endoscopic sinus surgery procedures, though no agreement exists on which techniques provide the best outcomes. This PRISMA-compliant systematic review aims to assess which MT surgery technique yields the least postoperative adverse effects and the best objective and subjective outcomes. METHODS: A comprehensive search criteria was conducted in multiple databases up to July 3, 2023, to identify studies reporting surgical treatments of the MT. After screening and quality assessment, 14 articles were included for analysis. Data on patients demographics, surgical approaches, postoperative treatment and follow-up, objective and subjective outcomes were extracted and reviewed. RESULTS: Out of 173 unique papers identified, 14 articles met the inclusion criteria, predominantly randomized controlled trials (n = 9). Antero-inferior middle turbinectomy was the predominant surgical approach. Most studies evaluated results with postoperative endoscopy, a superior outcome was documented in the intervention group (ten out of eleven cases). In four out five studies using the SNOT-22, the treatment group was associated with a statistically significant improvement. Olfactory questionnaires highlighted superior olfactory outcome in two out of three studies. The UPSIT score revealed no significant difference between groups. Objective olfactory assessments favored treatment groups in both studies utilizing olfactometry. CONCLUSIONS: It seems that a partial MT surgical approach consistently yields subjective and objective improvements compared to conservative measures, also suggesting a positive impact on smell function. Despite it appears that better outcomes with fewer complications are consistently achieved with partial techniques, it remains challenging identifying which partial technique surpasses the others, due to significant heterogeneity among the studies.

2.
Forensic Sci Int Synerg ; 7: 100440, 2023.
Article in English | MEDLINE | ID: mdl-37840559

ABSTRACT

The Amelogenin sex test included in forensic DNA typing kits has the potential to identify congenital conditions such as differences/disorders of sex development (DSD). It can also reveal mismatches between genotypic sex and gender marker in identity documents of transgender persons who obtained legal gender recognition. In a 13-year case history of paternity/kinship tests, involving n = 962 females and n = 1001 males, two mismatches between Amelogenin sex test (male) and gender marker (female), and three cases of chromosomal DSD (Klinefelter syndrome) were observed. The concrete risk of observing Amelogenin anomalies, their potential causes, and the context in which they occur (forensic, i.e. non-medical) mean that laboratory operators are called to strike a complex balance between privacy interests and individual health rights when providing preliminary information and reporting Amelogenin incidental findings. This case history argues for the need of a more responsible approach towards the Amelogenin sex test in the forensic community.

3.
Life (Basel) ; 12(8)2022 Aug 16.
Article in English | MEDLINE | ID: mdl-36013428

ABSTRACT

The new severe acute respiratory syndrome coronavirus 2 (SARS-CoV-2) virus has high infectivity, often masked by asymptomatic carriers, which allows it to spread rapidly and become a pandemic. Attempts to slow the pandemic at this stage depend on the ability to unmask asymptomatic carriers. The rapid diagnosis of active coronavirus disease 2019 (COVID-19) infection is one of the cornerstones of pandemic control, as the nasal cavity is the main gateway for SARS-CoV-2 entry and altered sense of smell is a feature of the current virus. In the present study, we therefore tested the olfactory threshold coupled with heart-lung parameters in subjects undergoing traditional molecular testing, resulting in a significantly different score between asymptomatic subjects and healthy controls. In total, 82% of asymptomatic positives showed olfactory impairment; of these, 46% had severe hyposmia and 7% had anosmia, while in the control 9% had severe hyposmia and 0% had anosmia, respectively, which agrees with heart rate, breathing rate, and blood pressure parameter variations. The olfactory test coupled with physiological parameters may help to identify asymptomatic people. In conclusion, our results suggest that most asymptomatic individuals could be unmasked by mass olfactory rapid threshold screening and then referred to traditional slower diagnostic tests.

4.
Forensic Sci Int Synerg ; 3: 100134, 2021.
Article in English | MEDLINE | ID: mdl-33532722

ABSTRACT

In case of minor migrants, absence of valid identification documents that clearly define age is a critical issue, because without these data the child cannot enjoy the rights provided by the Convention on the Rights of the Child. Differentiation between minors and adults is fundamental when age is disputed in human identification, asylum seeking, criminal liability, and child abuse fields. Few indications are available about qualitative/statistical agreement of different age estimation methods. Ages of 301 individuals were estimated through two dental methods in order to: determine quantitative and statistical agreements in legal age definition; identify practical recommendations. The study pointed out discrepancy between the two methods in 7/301 cases. From a statistical point of view, this finding corresponded to an almost perfect agreement. Thus, authors suggested that the two methods can be alternately used for legal age assessment, but operators should use both methods when the estimated age is 18.5 years.

5.
Nucleic Acids Res ; 48(17): 9762-9786, 2020 09 25.
Article in English | MEDLINE | ID: mdl-32182356

ABSTRACT

Ribosome biogenesis requires numerous trans-acting factors, some of which are deeply conserved. In Bacteria, the endoribonuclease YbeY is believed to be involved in 16S rRNA 3'-end processing and its loss was associated with ribosomal abnormalities. In Eukarya, YBEY appears to generally localize to mitochondria (or chloroplasts). Here we show that the deletion of human YBEY results in a severe respiratory deficiency and morphologically abnormal mitochondria as an apparent consequence of impaired mitochondrial translation. Reduced stability of 12S rRNA and the deficiency of several proteins of the small ribosomal subunit in YBEY knockout cells pointed towards a defect in mitochondrial ribosome biogenesis. The specific interaction of mitoribosomal protein uS11m with YBEY suggests that the latter helps to properly incorporate uS11m into the nascent small subunit in its late assembly stage. This scenario shows similarities with final stages of cytosolic ribosome biogenesis, and may represent a late checkpoint before the mitoribosome engages in translation.


Subject(s)
Mitochondrial Ribosomes/metabolism , Ribonucleases/metabolism , Cell Respiration/genetics , Escherichia coli/genetics , Gene Expression , HEK293 Cells , Humans , Mitochondria/genetics , Mitochondria/metabolism , Mitochondrial Proteins/genetics , Mitochondrial Proteins/metabolism , RNA, Ribosomal/metabolism , Ribonucleases/genetics , Ribosomal Proteins/genetics , Ribosomal Proteins/metabolism
6.
Clin Nutr ESPEN ; 28: 127-131, 2018 12.
Article in English | MEDLINE | ID: mdl-30390869

ABSTRACT

BACKGROUND AND AIMS: Non-Celiac Gluten Sensitivity (NCGS) is a recently proposed clinical condition causing both intestinal and extra-intestinal symptoms, without gastrointestinal lesions, which improve on avoiding gluten intake, in the absence of celiac disease and wheat allergy. The prevalence of this condition is still a matter of debate, in part due to the very recent introduction of an accepted diagnostic test, a double-blind, placebo controlled gluten challenge. However, this is a lengthy and cumbersome procedure, theoretically burdened by a significant reduction of patient compliance. ALCAT 5 is an automated in vitro test evaluating the toxic effect of gluten on neutrophils by the exposure of these cells to a gluten-containing extract of gluten-containing cereals. The test is very simple to perform, the results are rapidly obtained, and might represent, if sufficiently accurate, a promising alternative to diagnose gluten intolerance. The aim of this study was the comparison of ALCAT 5 results with those of a double-blind, placebo-controlled, gluten challenge, in a group of patients with clinically-suspected NCGS. METHODS: Twenty-five patients (M/F 3/22, mean age 32 ± 4 yrs) with severe functional abdominal pain and bloating, who had previously undergone the ALCAT 5 test, were enrolled. All the subjects reported their symptoms on a gluten-containing diet and considered gluten the causal agent. Following the Salerno Experts' Criteria, they underwent a double-blind, placebo controlled trial with gluten vs placebo. A mean value during gluten ingestion >30% of the value during placebo was considered as indicative of gluten sensitivity. RESULTS: After blinded administration of gluten, 13 out of 25 (52%) patients showed an increase in the severity of abdominal pain, and 11 out of 25 (44%) showed an increase in the severity of abdominal bloating. Considering these two symptoms together, in 16 patients out of 25 (64%), blinded gluten administration induced an increase of abdominal pain and/or bloating. The ALCAT 5 test proved to be positive in 20 and negative in 5 patients. In sixteen patients out of 25 the result of ALCAT 5 agreed with the double-blind trial (64%). In particular, both tests were positive in 14 patients and negative in 2. CONCLUSIONS: In this subgroup of patients, ALCAT 5 could be used to support the clinical suspicion of the presence of NCGS and to address these patients to a blinded gluten challenge.


Subject(s)
Celiac Disease/diagnosis , Glutens/pharmacology , Neutrophils/drug effects , Abdominal Pain/etiology , Adult , Celiac Disease/complications , Celiac Disease/pathology , Female , Humans , Male , Predictive Value of Tests , Severity of Illness Index
7.
Nat Commun ; 7: 13157, 2016 10 25.
Article in English | MEDLINE | ID: mdl-27779184

ABSTRACT

Cells have evolved mechanisms to protect, restart and repair perturbed replication forks, allowing full genome duplication, even under replication stress. Interrogating the interplay between nuclease-helicase Dna2 and Holliday junction (HJ) resolvase Yen1, we find the Dna2 helicase activity acts parallel to homologous recombination (HR) in promoting DNA replication and chromosome detachment at mitosis after replication fork stalling. Yen1, but not the HJ resolvases Slx1-Slx4 and Mus81-Mms4, safeguards chromosome segregation by removing replication intermediates that escape Dna2. Post-replicative DNA damage checkpoint activation in Dna2 helicase-defective cells causes terminal G2/M arrest by precluding Yen1-dependent repair, whose activation requires progression into anaphase. These findings explain the exquisite replication stress sensitivity of Dna2 helicase-defective cells, and identify a non-canonical role for Yen1 in the processing of replication intermediates that is distinct from HJ resolution. The involvement of Dna2 helicase activity in completing replication may have implications for DNA2-associated pathologies, including cancer and Seckel syndrome.


Subject(s)
DNA Helicases/genetics , DNA Replication , Gene Expression Regulation, Fungal , Holliday Junction Resolvases/genetics , Saccharomyces cerevisiae Proteins/genetics , Saccharomyces cerevisiae/genetics , Chromosome Segregation , Chromosomes, Fungal/chemistry , Chromosomes, Fungal/metabolism , DNA Helicases/metabolism , DNA, Cruciform/genetics , DNA, Cruciform/metabolism , DNA-Binding Proteins/genetics , DNA-Binding Proteins/metabolism , Endodeoxyribonucleases/genetics , Endodeoxyribonucleases/metabolism , Endonucleases/genetics , Endonucleases/metabolism , Flap Endonucleases/genetics , Flap Endonucleases/metabolism , G2 Phase Cell Cycle Checkpoints/genetics , Holliday Junction Resolvases/metabolism , Homologous Recombination , Mitosis , Saccharomyces cerevisiae/metabolism , Saccharomyces cerevisiae Proteins/metabolism
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