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Key Points Question What genetic variants are associated with juvenile amyotrophic lateral sclerosis (ALS)? Findings In this family-based genetic study, exome sequencing was performed in 3 patients diagnosed with juvenile ALS and failure to thrive; this identified de novo variants in SPTLC1 (p.Ala20Ser in 2 patients and p.Ser331Tyr in 1 patient). Variants in SPTLC1 are a known cause of hereditary sensory and autonomic neuropathy, type 1A, and these data extend the phenotype associated with this gene. Meaning De novo variants in the SPTLC1 gene are associated with juvenile ALS, a fatal neurological disorder., This genetic association study identifies genetic variants associated with juvenile amyotrophic lateral sclerosis., Importance Juvenile amyotrophic lateral sclerosis (ALS) is a rare form of ALS characterized by age of symptom onset less than 25 years and a variable presentation. Objective To identify the genetic variants associated with juvenile ALS. Design, Setting, and Participants In this multicenter family-based genetic study, trio whole-exome sequencing was performed to identify the disease-associated gene in a case series of unrelated patients diagnosed with juvenile ALS and severe growth retardation. The patients and their family members were enrolled at academic hospitals and a government research facility between March 1, 2016, and March 13, 2020, and were observed until October 1, 2020. Whole-exome sequencing was also performed in a series of patients with juvenile ALS. A total of 66 patients with juvenile ALS and 6258 adult patients with ALS participated in the study. Patients were selected for the study based on their diagnosis, and all eligible participants were enrolled in the study. None of the participants had a family history of neurological disorders, suggesting de novo variants as the underlying genetic mechanism. Main Outcomes and Measures De novo variants present only in the index case and not in unaffected family members. Results Trio whole-exome sequencing was performed in 3 patients diagnosed with juvenile ALS and their parents. An additional 63 patients with juvenile ALS and 6258 adult patients with ALS were subsequently screened for variants in the SPTLC1 gene. De novo variants in SPTLC1 (p.Ala20Ser in 2 patients and p.Ser331Tyr in 1 patient) were identified in 3 unrelated patients diagnosed with juvenile ALS and failure to thrive. A fourth variant (p.Leu39del) was identified in a patient with juvenile ALS where parental DNA was unavailable. Variants in this gene have been previously shown to be associated with autosomal-dominant hereditary sensory autonomic neuropathy, type 1A, by disrupting an essential enzyme complex in the sphingolipid synthesis pathway. Conclusions and Relevance These data broaden the phenotype associated with SPTLC1 and suggest that patients presenting with juvenile ALS should be screened for variants in this gene.

PURPOSE: To evaluate the effect of light-curing exposure time and location on polymerization of a restorative bulk-fill resin composite to lute endocrowns. METHODS: A light-cured restorative bulk-fill resin composite (Filtek One Bulk Fill) was submitted to direct light-curing by a high-power LED light-curing unit for 20 seconds as the positive control group (n= 10). Five more groups (n= 10) were light-cured in a natural tooth mold from two sites (labial and lingual) through a nanohybrid resin composite CAD-CAM restoration (Lava Ultimate A2 LT), for different irradiation times: 90 seconds per site, 40 seconds per site, 30 seconds per site, 20 seconds per site and 10 seconds per site. Vickers microhardness measurements were made at two different depths and test/control ratios were calculated. Ratios of 0.8 were considered as an adequate level of curing. A quantile regression was run to identify the minimally sufficient time of light-curing, and a two-way ANOVA was used to compare the results to previous findings and evaluate the effect of curing location. RESULTS: Analysis showed that 40 seconds x 2 is the minimal irradiation time that presents a test/control ratio above 0.8. Quantile regressions showed that the required irradiation time to reach a test/control ratio of 0.8 at a confidence level of 95% is 41.5 seconds and 39.2 seconds at 200 µm and 500 µm depths in the luting agent, respectively. There was no statistically significant difference between microhardness of the two depths except for the irradiation time of 10 seconds. The two-site to three-site light curing comparison showed no statistically significant difference except for the 90-second time. CLINICAL SIGNIFICANCE: Systematic light-curing through the labial, lingual and occlusal surfaces of thick indirect restorations is not always required for sufficient polymerization and can even waste valuable clinical time especially in the case of multiple restorations luted with resin composites.

To review the elements of static analysis in the functional assessment of the stomatognathic system, as promoted for more than a century by gnathologists, and summarize the available scientific evidence, including anthropologic observations.A thorough search was conducted using PubMed, the Cochrane Library databas e, and Google Scholar. From peer-reviewed articles and other scientific literature, up-to-date information addressing three topics was identified: (a) the anthropologic perspective with particular consideration for the role of progressive dental wear over time, (b) descriptions of gnathologic principles and evidence on their scientific validity, and (c) the methodologic inaccuracies introduced by seeking to correlate variables directly rather than allowing for causal inference.For decades gnathology attempted to describe a structure-function correlation within the stomatognathic system by means of a model whose principles were static and mechanistic references. No scientific validation was ever achieved, placing clinical and research consensus out of reach.A historical perspective helps to place the fundamentals of gnathology into context: They were conceived to solve technical difficulties but were then assumed to be physiologic stereotypes. This misconception led to a decades-long promotion of mechanistic theories to describe oral function, but the evidence available today supports a more flexible and adaptable approach. Gnathologic arguments have been relegated to become exclusively of technical relevance in oral rehabilitation.

Pediatric obstructive sleep apnea (OSA) is diagnosed and stratified by polysomnography. However, due to cost and inaccessibility, up to 90% of children undergo tonsillectomy and adenoidectomy (TA) solely based on clinical criteria. We previously developed a data-driven brief screening questionnaire ('Selected Features,' SF) that predicted OSA severity than alternatives. The SF asks the parent whether a child: (i) has had breath-holding spells at night over the past 4 weeks, (ii) is a mouth-breather during the day, (iii) has stopped growing at a normal rate any time since birth, and (iv) is overweight. This study sought prospectively validate the SF questionnaire.We conducted a prospective assessment of the predictive accuracy of SF compared to the Pediatric Sleep Questionnaire-Sleep Related Breathing Disorder (PSQ-SRBD) scale in otherwise healthy children with sleep disordered breathing referred for TA. We compared the model fits of PSQ-SRDB and SF for (i) a linear regression model for the prediction of OSA, and (ii) a logistic regression model for severe OSA, defined as apnea hypopnea index (AHI) 10. P 0.05 was significant.A total of 124 patients were included. The average age was 7.3 years (95% confidence interval, 6.6-8.0) and 66 (54%) were male. The racial composition was 54 (44%) black, 41 (33%) white, and 28 (23%) other. The median AHI was 4.8 (interquartile range 12) and 43 (35%) of patients had severe OSA. In linear and logistic regression models, SF outperformed the PSQ-SRBD and null models as measured by Akaike Information Criteria. The overall accuracy in predicting AHI10 for PSQ-SRBD was 0.65 (0.56-0.73, P = 0.54) compared to 0.73 (0.64-0.80, P = 0.04) for SF.By eliminating redundancy, we have developed a questionnaire with improved prediction of OSA and its severity, in children with high pre-test probability of the condition. While multi-site validation is necessary, SF demonstrates value in screening children prior to TA in resource-limited environments.

Precarious manhood beliefs portray manhood, relative to womanhood, as a social status that is hard to earn, easy to lose, and proven via public action. Here, we present cross-cultural data on a brief measure of precarious manhood beliefs (the Precarious Manhood Beliefs scale [PMB]) that covaries meaningfully with other cross-culturally validated gender ideologies and with country-level indices of gender equality and human development. Using data from university samples in 62 countries across 13 world regions (N = 33,417), we demonstrate: (1) the psychometric isomorphism of the PMB (i.e., its comparability in meaning and statistical properties across the individual and country levels); (2) the PMB’s distinctness from, and associations with, ambivalent sexism and ambivalence toward men; and (3) associations of the PMB with nation-level gender equality and human development. Findings are discussed in terms of their statistical and theoretical implications for understanding widely-held beliefs about the precariousness of the male gender role. © The Author(s) 2021.

Socio-demographic and clinical characteristics of adults under compulsory psychiatric treatment, have not been reported adequately in Southern European countries. We investigated the socio-demographic and clinical characteristics of adults with psychotic symptomatology who were involuntarily treated in the acute Mental Health Services in Cyprus. A descriptive cross-sectional study was applied. Data collection (December 2016 to February 2018) achieved via a structured questionnaire including demographic and clinical variables. Census sampling was applied in Cyprus referral center for compulsory psychiatric treatment. The sample included 406 individuals (262 males, 144 females). Approximately 86.2% were single, 77.6% were unemployed, and 24.9% held a bachelor's degree. The most frequent clinical diagnosis was schizophrenia or a relevant psychotic disorder (86.4%). The most frequent admission cause was non-adherence to pharmacotherapy along with disorganized behavior (agitation and/or self-care deficit, and/or aggressive behavior, and/or suicidal behavior) (53.6%). Moreover, 70.7% of the sample reported a positive personal history of mental health problems, while 42.1% reported a positive family history of mental health disorders. Half of the participants (52%) were previously involuntarily admitted for compulsory treatment. Adjusted associations of readmission status were reported with Cypriot ethnicity (OR: 4.40, 95%CI: 2.58–7.50), primary education only (OR: 3.70, 95%CI: 1.64–8.37), readmission due to disorganized behavior along with non-adherence to pharmacotherapy (OR: 10.84, 95%CI: 2.69–43.72), as well as along with substance use (OR: 6.39, 95%CI: 1.52–26.82). Readmission was almost five times more likely to occur due to suicidal behavior (OR: 5.01, 95%CI: 1.09–22.99) compared to disorganized behavior not otherwise specified. Additionally, those with a diagnosis of schizophrenia were more than 12 times more frequently readmitted for compulsory treatment compared to other diagnoses (OR 12.15, 95%CI: 1.04–142). Moreover, the participants with higher secondary education had 54.6% less odds to be involuntarily re-admitted compared to Bachelor degree holders (OR 0.442, 95%CI: 0.24–0.79). A high percentage of involuntary treatment was noted due to non-adherence to pharmacotherapy and substance use. Re-evaluation of the effectiveness of relevant community interventions is suggested, as well as implementation of structured educational programs on therapy adherence during psychiatric hospitalization. © Copyright © 2021 Kaikoushi, Middleton, Chatzittofis, Bella, Alevizopoulos and Karanikola.

Τhe severity and variation of depressive symptoms (DS), among psychotic individuals under involuntary hospitalization is unclear. We investigated the socio-demographic and clinical characteristics of psychotic adults with DS involuntarily hospitalized for compulsory treatment in Cyprus. We also evaluated the psychometric properties (internal consistency, known-group and discriminant validity) of the HDRS-17 and HAM-A for the assessment of depressive and anxiety symptoms, respectively. A descriptive correlational study with cross-sectional comparisons was applied. Data on demographics, cognitive functioning (MoCA scale), depressive (HDRS-17 scale), anxiety (HAM-A scale) and psychotic (PANSS scale) symptoms were collected (December 2016 -February 2018). Following informed consent, the sample included 406 patients. Among them, 21 males and 23 females reported DS (HDRS-17 total score ≥8). The latter were mainly Greek-Cypriots (61.4%), 45-65 years old (38.6%), single (77.3%), unemployed (72.7%), mainly admitted due to aggressiveness towards others (47.7%), most frequently diagnosed with a bipolar disorder (59.1%). The mean score (M) in the HDRS-17 was 30.72 (scale range: 8-50; Standard Deviation [SD]: 10.42). The highest mean score (M) per item was in the variables "Suicide behavior"'(M:3.09; SD:1.09) and "Depressive mood" (M=2.95; SD=1.07). The DS group (HDRS-17 score≥8) reported higher PANSS positive symptoms subscale score (t-test, p=0.003) and HAM-A total score (t-test, p=0.05) compared to the non-DS group (HDRS-17 score

© 2020 Mosher and Linder, Inc. All rights reserved.Purpose: To evaluate the minimal irradiation time to reach a sufficient polymerization of a photopolymerizable restorative bulk-fill resin composite to lute endocrowns. Methods: A photopolymerizable restorative bulk-fill resin composite (Filtek One Bulk Fill) was submitted to direct light-curing by a high power LED light-curing unit for 20 seconds as the positive control group (n = 10). Five more test groups (n= 10) were light-cured in a natural tooth mold from three sites (buccal, palatal and occlusal) under a 9.5 mm thick nanohybrid resin composite CAD-CAM endocrown (Lava Ultimate A2 LT), for different irradiation times:.90 seconds per site, 40 seconds per site, 30 seconds per site, 20 seconds per site and 10 seconds per site. Vickers microhardness measurements were made at two different depths and test/control ratios were calculated. Ratios of 0.8 were considered as an adequate level of curing. Results: Analysis shows that 30 seconds × 3 was the minimal irradiation time that presented a test/control ratio above 0.8. Quantile regressions showed that the required irradiation time to reach a test/control ratio of 0.8 at a confidence level of 95% was 38 seconds and 37 seconds for 200 μm and 500 μm, respectively. There was no statistically significant difference between microhardness of the two depths except for the irradiation time of 10 seconds. A 120-second (40 seconds per buccal, palatal and occlusal site) light-curing of photopolymerizable bulk-fill resin composite to lute a resin composite CAD-CAM endocrown restoration can be considered sufficient to reach adequate polymerization.

To compare the gloss retention of four resin based materials, two direct resin composites (Tetric EvoCeram and Filtek Supreme) and two indirect resin composite CAD-CAM blocks (Tetric CAD and Lava Ultimate).36 samples of 1 mm thickness were readied of each test material and manually polished with polishing discs (Sof-Lex) up to the finest grit size. Three gloss measurements per sample were taken (one every 120 degrees of sample rotation) by means of a glossmeter (Novo-Curve) for a total of 60 values obtained per tested material. Samples of each material were then randomly divided into three equal groups and aged with 75% alcohol (Group 1), amine fluoride gel (Elmex gelée) (Group 2) or mechanical brushing (Group 3). Another set of gloss measurements was performed on all samples after 1 hour of aging. Gloss values were statistically evaluated by means of repeated measures ANOVA and Fisher's LSD post-hoc tests.Gloss retention values ranged from 59.0 (Tetric EvoCeram) to 70.9 (Lava Ultimate) for alcohol, from 59.3 (Filtek Supreme) to 67.5 (Lava Ultimate) for Elmex gelèe and from 33.3 (Tetric EvoCeram) to 53.4 (Lava Ultimate) for mechanical brushing. Statistical analysis revealed: (1) significant difference between intial and final gloss values for all materials and groups; (2) significant difference between final gloss values of all the materials in the alcohol group; (3) significant difference between final gloss values of Lava Ultimate and all the other materials in the Elmex gelèe group; (4) significant difference between final gloss values of Lava Ultimate and Tetric CAD with the other tested materials in the brushing group.Direct resin composites in general are widely used, and CAD-CAM resin composite materials are becoming progressively more accessible. Making the choice between direct and indirect techniques is still a challenge, and understanding the advantages of CAD-CAM resin composites in the form of higher gloss retention, which translates into higher durability of esthetics, may be one the parameters facilitating the decision.

Men sometimes withdraw support for gender equality movements when their higher gender status is threatened. Here, we expand the focus of this phenomenon by examining it cross-culturally, to test if both individual- and country-level variables predict men's collective action intentions to support gender equality. We tested a model in which men's zero-sum beliefs about gender predict reduced collective action intentions via an increase in hostile sexism. Because country-level gender equality may threaten men's higher gender status, we also examined whether the path from zero-sum beliefs to collective action intentions was stronger in countries higher in gender equality. Multilevel modeling on 6,734 men from 42 countries supported the individual-level mediation model, but found no evidence of moderation by country-level gender equality. Both country-level gender equality and individual-level zero-sum thinking independently predicted reductions in men's willingness to act collectively for gender equality. © 2020 John Wiley & Sons, Ltd.

Resumen La diversidad de macro-invertebrados está relacionada con el estado de conservación del suelo, no obstante, la remoción de la cubierta vegetal natural para el establecimiento de sistemas ganaderos extensivos afecta su integridad. Una estrategia para la conservación de estos organismos es la implementación de sistemas silvopastoriles; no obstante, en el sureste de México la información aún es limitada. El propósito del presente estudio fue evaluar y comparar la riqueza y la abundancia de macro-invertebrados en cuatro agro-ecosistemas contrastantes: dos sistemas silvopastoriles conformados por Leucaena leucocephala y pastos asociados (i.e. Panicum máximum cv mombaza y Cynodon plectostachyus), un pastizal convencional de Brachiaria brizantha con árboles dispersos en baja densidad y una selva mediana subperennifolia. En cada sistema se delimitó una superficie de una hectárea y se estableció un transecto de 50 m de longitud en los que se colocaron cinco trampas de caída tipo pit-fall cada 10 m. El muestreo se realizó en febrero y mayo 2018 y en cada mes se realizaron cinco recolectas con intervalos de cinco días. Se recolectaron un total de 1 737 organismos pertenecientes a 10 órdenes de la clase Insecta y uno a la clase Gastropoda. Los sistemas con mayor abundancia de macro-invertebrados fueron el sistema de selva media subperennifolia (923 individuos) y el sistema silvopastoril de L. leucocephala con C. plectostachyus (354 individuos). Los órdenes más abundantes fueron: Hymenoptera, Coleoptera, Araneae y Orthoptera. La mayor diversidad de macro-invertebrados se presentó en los sistemas silvopastoriles de L. leucocephala con P. maximum (H’=1.58) y L. leucocephala con C. plectostachyus (H´=1.44). Los resultados encontrados muestran que los sistemas pecuarios manejados con componentes leñosos (árboles/arbustos) albergan una riqueza y abundancia importante de órdenes de macro-invertebrados en comparación con sistemas como selva mediana subperennifolia. Esta diversidad de macro-invertebrates podría contribuir a la integridad y funcionalidad de los agro-ecosistemas. Abstract The diversity of macro-invertebrates is related to the state of disturbance of the soil, caused mainly by the land-use change for agricultural activities. A strategy for the conservation of these organisms is the implementation of diversified production systems such as silvopastoral systems. However, in the Southeast of Mexico, information is still limited. The aim of the present study was to evaluate and compare the richness, abundance and composition of macro-invertebrates in four contrasting agro-ecosystems: two silvopastoral systems made of Leucaena leucocephala and associated pastures (i.e. Panicum maximum cv mombaza and Cynodon plectostachyus), a pasture of Brachiaria brizantha with scattered trees in low density and, a medium-statured tropical dry forest. In each system, an area of one hectare was delimited and a transect of 50 m in length was established in which five pit-fall traps were placed every 10 m. The sampling was carried out in February and May of 2018 and in each month five collections were made with five-day intervals. A total of 1 737 organisms belonging to 10 orders of the class Insecta and one of the class Gastropoda were collected. The medium-statured tropical dry forest (923 individuals) and the silvopastoral systems of L. leucocephala with C. Plectostachyus (354 individuals) show the highest abundance of macro-invertebrates. The most abundant genera were: Hymenoptera, Coleoptera, Aracninae and Orthoptera. The higher macro-invertebrate diversity was found in the silvopastoral systems of L. leucocephala with P. maximum (H '= 1.58) and L. leucocephala with C. plectostachyus (H' = 1.44). The results show that livestock systems managed with woody components (trees or shrubs) are home of an important abundance and richness of macro-invertebrates, compared to tropical forests. This diversity of macro-invertebrates may contribute to the integrity and functionality of the agro-ecosystems.

Introduction: The diversity of macro-arthropods is related to the state of disturbance of the soil, caused mainly by the change of land use for agricultural activities. A strategy for the conservation of these organisms is the implementation of diversified production systems such as silvopastoral systems, however; In the southeast of Mexico, information is still limited. Objective: The aim of the present study was to evaluate and compare the richness, abundance of macro-arthropods in four contrasting agro-ecosystems: two silvopastoral systems made of Leucaena leucocephalaand associated pastures (i.e. Panicum maximumcv mombaza and Cynodon plectostachyus), a pasture of Brachiaria brizanthawith scattered trees in low density and, a medium-stature forest. Methods: For this, the pit-fall traps were used, which consisted of plastic containers of one liter capacity and a diameter of 14.4 cm. The samplings were made in two periods: one in the month of February and another in the month of May 2018, in each month there were five spaced collections, which made a total of 100 samples. Results: A total of 1 737 organisms belonging to 14 species of 11 genera were collected. The systems with the greater abundance of macro-arthropods were the system of medium-stature forest (923 individuals) and the silvopastoral system of L. leucocephalawith C. plectostachyus(354 individuals). The most abundant genera were: Hymenoptera, Coleoptera, Aracnidos and Orthoptera. The greatest diversity of macro-arthropods occurred in the silvopastoral systems of L. leucocephalawith P. maximum(H '= 1.586) and L. leucocephalawith C. plectostachyus(H' = 1.441). Conclusions: The results show that livestock systems managed with woody components (trees or shrubs) can be equated, in terms of abundance and diversity of macro-arthropods, with systems such as tropical forests, which contributes to the integrity and functionality of the agro-ecosystems. Introducción: La diversidad de macro-artrópodos está relacionada con el estado de conservación del suelo, por lo tanto, el cambio de uso del suelo afecta su integridad. Una estrategia para la conservación de estos organismos es la implementación de sistemas de producción diversificados como los sistemas silvopastoriles; no obstante, en el sureste de México la información aún es limitada. Objetivo: El propósito del presente estudio fue evaluar y comparar la riqueza y la abundancia de macro-artrópodos en cuatro agro-ecosistemas contrastantes: dos sistemas silvopastoriles conformados por Leucaena leucocephalay pastos asociados (i.e. Panicum maximumcv mombaza y Cynodon plectostachyus), un pastizal convencional de Brachiaria brizanthacon árboles dispersos y una selva mediana subperennifolia. Métodos: Se utilizaron trampas pit-fall de un litro de capacidad y un diámetro de 14.4 cm. Los muestreos se realizaron en dos periodos: uno en el mes de febrero y otro en el mes de mayo del 2018, en cada mes se hicieron cinco colectas espaciadas, lo que hizo un total de 100 muestras. Resultados: Se recolectaron un total de 1 737 organismos pertenecientes a 14 especies de 11 órdenes. Los sistemas con mayor abundancia de macro-artrópodos fueron, el sistema de selva media subperennifolia (923 individuos) y el sistema silvopastoril de L. leucocephalacon C. plectostachyus(354 individuos). Los órdenes más abundantes fueron: Hymenoptera, Coleoptera, Aracnidos y Orthoptera.La mayor diversidad de macro-artrópodos se presentó en los sistemas silvopastoriles de L. leucocephalacon P. maximum(H’=1.586) y L. leucocephalacon C. plectostachyus(H´=1.441). Conclusiones: Los resultados encontrados muestran que los sistemas pecuarios manejados con componentes leñosos (árboles/arbustos) pueden equipararse, en términos de abundancia y diversidad de órdenes de macro-artrópodos, con sistemas como las selvas o bosques, lo cual contribuye a la integridad y funcionalidad de los agro-ecosistemas.

Introduction Misfolded aggregated proteins and neuroinflammation significantly contribute to amyotrophic lateral sclerosis (ALS) pathogenesis, hence representing therapeutic targets to modify disease expression. Rapamycin inhibits mechanistic target of Rapamycin (mTOR) pathway and enhances autophagy with demonstrated beneficial effects in neurodegeneration in cell line and animal models, improving phenotype in SQSTM1 zebrafish, in Drosophila model of ALS-TDP, and in the TDP43 mouse model, in which it reduced neuronal loss and TDP43 inclusions. Rapamycin also expands regulatory T lymphocytes (Treg) and increased Treg levels are associated with slow progression in ALS patients.Therefore, we planned a randomized clinical trial testing Rapamycin treatment in ALS patients. Methods RAP-ALS is a phase II randomized, double-blind, placebo-controlled, multicenter (8 ALS centers in Italy), clinical trial. The primary aim is to assess whether Rapamycin administration increases Tregs number in treated patients compared with control arm. Secondary aims include the assessment of safety and tolerability of Rapamycin in patients with ALS; the minimum dosage to have Rapamycin in cerebrospinal fluid; changes in immunological (activation and homing of T, B, NK cell subpopulations) and inflammatory markers, and on mTOR downstream pathway (S6RP phosphorylation); clinical activity (ALS Functional Rating Scale-Revised, survival, forced vital capacity); and quality of life (ALSAQ40 scale). Discussion Rapamycin potentially targets mechanisms at play in ALS (i.e., autophagy and neuroinflammation), with promising preclinical studies. It is an already approved drug, with known pharmacokinetics, already available and therefore with significant possibility of rapid translation to daily clinics. Findings will provide reliable data for further potential trials. Ethics and dissemination The study protocol was approved by the Ethics Committee of Azienda Ospedaliero Universitaria of Modena and by the Ethics Committees of participating centers (Eudract n. 2016-002399-28) based on the Helsinki declaration.

INTRODUZIONE: Gardnerella vaginalis (GV) è un batterio anaerobio facoltativo, pleomorfico, Gram-variabile. GV è la specie batterica più comunemente ritrovata a livello vaginale in corso vaginosi batterica (BV), condizione caratterizzata da una deplezione di lattobacilli e un’eccessiva crescita di anaerobi. Nonostante sia la specie più diffusa e più virulenta trovata in BV, GV fa parte del microbiota vaginale in una proporzione significativa di donne sane. Oltre a questo aspetto, è meno noto il ruolo di GV in altre condizioni cliniche che interessano il tratto genitale delle donne, come la candidosi vulvo-vaginale e le infezioni da Chlamydia trachomatis (CT). Lo scopo di questo studio è stato valutare e confrontare la distribuzione di GV nel tratto vaginale in 4 diversi gruppi: donne sane, con BV, con candidosi o con infezione da CT. METODI: A partire da luglio 2016 sono state arruolate tutte le donne in età fertile afferenti all’ambulatorio MTS del Policlinico Sant’Orsola-Malpighi di Bologna e che soddisfacevano uno dei seguenti criteri: presenza di sintomi vulvo-vaginali (es: perdite vaginali, sanguinamento anomalo, prurito) o presenza di fattori di rischio per l'infezione da CT (età

INTRODUZIONE: Mycoplasma hominis (MH), Ureaplasma parvum (UP) e Ureaplasma urealyticum (UU), sono membri della classe dei Mollicutes, che possono essere frequentemente ritrovati nel tratto urogenitale di soggetti sani, come comuni microrganismi commensali. Il loro eventuale ruolo patologico è piuttosto controverso e molti aspetti della loro fisio-patologia devono ancora essere chiariti. I farmaci antimicrobici usati per il trattamento dei Mollicutes comprendono i chinolonici, i macrolidi e le tetracicline, anche se, a causa dell'eccessivo e improprio uso di farmaci, stanno emergendo sempre più resistenze. Lo scopo di questo studio è stato quello di valutare la prevalenza e il profilo di resistenza di MH e UU/UP isolati da campioni genitali, in un periodo di due anni. METODI: Sono stati raccolti ed analizzati i dati relativi agli esami colturali per ureaplasmi/micoplasmi a partire da campioni urogenitali, presso la U.O. Microbiologia del Policlinico Sant’Orsola di Bologna, nel periodo gennaio 2015-dicembre 2016. La coltura, l’identificazione differenziale di Ureaplasma (UU/UP) e MH e le prove di suscettibilità antimicrobica sono state eseguite con un kit commerciale (Mycoview, Zeakon Diagnostics) che permette di testare i seguenti antimicrobici: azitromicina, roxitromicina, josamicina, minociclina, doxiciclina, ofloxacina e ciprofloxacina. RISULTATI: Nel periodo di studio, sono stati testati complessivamente 4660 campioni (di cui 84,4% provenienti da donne) ed è stata rilevata una positività per Mollicutes pari al 30,9%. E’ stata ritrovata una percentuale di positività quasi doppia nelle donne rispetto agli uomini (33,3% vs 17,8%). In generale, la positività per Mollicutes tendeva a diminuire con l’aumentare dell’età dei soggetti. Gli ureaplasmi sono risultati le specie più comunemente isolate (prevalenza del 24,2%), nel 6,5% dei casi si è osservata la crescita sia di ureaplasmi che di MH, mentre MH è stato isolato solo nel 3,9% dei campioni. I ceppi di ureaplasma hanno mostrato livelli significativi di resistenza ai chinoloni, in particolare alla ciprofloxacina (77%), mentre i ceppi di MH erano resistenti ad azitromicina e a roxitromicina in circa il 90% dei casi. In caso del contemporaneo ritrovamento di ureaplasmi e MH, il livello di resistenza agli antimicrobici era significativamente maggiore rispetto ai casi di infezioni singole. Rispetto al 2015, nel 2016 si è assistito a un aumento significativo della prevalenza delle infezioni da MH e a un incremento del tasso di resistenza ad azitromicina e roxitromicina (P

The tumor suppressor protein p16 plays a fundamental role in cell cycle regulation and exerts a protective effect against tumor growth. Two different polymorphisms at positions 540 and 580 at the 3′UTR of exon 3 of p16 gene are implicated in several types of cancer, while their role in cervical cancer development remains rather vague. In the present study, we investigated for the impact of p16 genotypes/haplotypes on patients' vulnerability to cervical disease and examined whether these factors can be used as progression markers in the Greek population. A total of 96 HPV16 positive samples and histologically confirmed as LSIL (42 samples), HSIL (44 samples), and cervical cancer cases (10 samples) along with 50 control cases were tested. The identification of p16 polymorphisms was performed by PCR-RFLP methodology. The present analysis revealed that women with p16 540 CG/GG genotype are at a 2.7-fold higher risk of developing HPV16-associated HSIL (OR = 2.7, 95%CI: 1.01-6.6, P = 0.028). The G allele can be regarded as a risk factor of developing HSIL in the Greek population (OR = 2.7, 95%CI: 1.2-5.9, P = 0.012). Moreover, p16 polymorphism C580T is not associated with the growth of cervical lesion in Greek patients, while 540G/580C haplotype can be regarded as a risk haplotype of developing HSIL (OR = 3.67, 95%CI: 1.56-8.6, P = 0.0019). Our results demonstrated that p16 C540G polymorphism influence patients' susceptibility to more severe dysplasia and consequently this polymorphism could potentially emerge as a valuable biomarker for HSIL development in the Greek population. © 2017 Wiley Periodicals, Inc.