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- Common genetic variation in KATNAL1 non-coding regions is involved in the susceptibility to severe phenotypes of male infertilityPublication . Cerván‐Martín, Miriam; Bossini‐Castillo, Lara; Guzmán‐Jiménez, Andrea; Rivera‐Egea, Rocío; Garrido, Nicolás; Lujan, Saturnino; Romeu, Gema; Santos‐Ribeiro, Samuel; Castilla, José Antonio; Gonzalvo, María del Carmen; Clavero, Ana; Maldonado, Vicente; Vicente, Francisco Javier; Burgos, Miguel; Jiménez, Rafael; González‐Muñoz, Sara; Sánchez‐Curbelo, Josvany; López‐Rodrigo, Olga; Pereira‐Caetano, Iris; Marques, Patricia Isabel; Carvalho, Filipa; Barros, Alberto; Bassas, Lluís; Seixas, Susana; Gonçalves, João; Larriba, Sara; Lopes, Alexandra Manuel; Palomino‐Morales, Rogelio Jesús; Carmona, Francisco DavidBackground: Previous studies in animal models evidenced that genetic mutations of KATNAL1, resulting in dysfunction of its encoded protein, lead to male infertility through disruption of microtubule remodelling and premature germ cell exfoliation. Subsequent studies in humans also suggested a possible role of KATNAL1 single nucleotide polymorphisms in the development of male infertility as a consequence of severe spermatogenic failure. Objectives: The main objective of the present study is to evaluate the effect of the common genetic variation of KATNAL1 in a large and phenotypically well-characterised cohort of infertile men because of severe spermatogenic failure. Materials and methods: A total of 715 infertile men because of severe spermato genic failure, including 210 severe oligospermia and 505 non-obstructive azoospermia patients, as well as 1058 unaffected controls were genotyped for three KATNAL1 single-nucleotide polymorphism taggers (rs2077011, rs7338931 and rs2149971). Case–control association analyses by logistic regression assuming different models and in silico functional characterisation of risk variants were conducted. Results: Genetic associations were observed between the three analysed taggers and different severe spermatogenic failure groups. However, in all cases, the haplotype model (rs2077011*C | rs7338931*T | rs2149971*A) better explained the observed associations than the three risk alleles independently. This haplotype was associated with non-obstructive azoospermia (adjusted p = 4.96E-02, odds ratio = 2.97), Sertoli cell only syndrome (adjusted p = 2.83E-02, odds ratio = 5.16) and testicular sperm extraction unsuccessful outcomes (adjusted p = 8.99E-04, odds ratio = 6.13). The in silico analyses indicated that the effect on severe spermatogenic failure predisposition could be because of an alteration of the KATNAL1 splicing pattern. Conclusions: Specific allelic combinations of KATNAL1 genetic polymorphisms may confer a risk of developing severe male infertility phenotypes by favouring the overrepresentation of a short non-functional transcript isoform in the testis.
- Effect modification of greenness on the association between heat and mortality: A multi-city multi-country studyPublication . Choi, Hayon Michelle; Lee, Whanhee; Roye, Dominic; Heo, Seulkee; Urban, Aleš; Entezari, Alireza; Vicedo-Cabrera, Ana Maria; Zanobetti, Antonella; Gasparrini, Antonio; Analitis, Antonis; Tobias, Aurelio; Armstrong, Ben; Forsberg, Bertil; Íñiguez, Carmen; Åström, Christofer; Indermitte, Ene; Lavigne, Eric; Mayvaneh, Fatemeh; Acquaotta, Fiorella; Sera, Francesco; Orru, Hans; Kim, Ho; Kyselý, Jan; Madueira, Joana; Schwartz, Joel; Jaakkola, Jouni J.K.; Katsouyanni, Klea; Diaz, Magali Hurtado; Ragettli, Martina S.; Pascal, Mathilde; Ryti, Niilo; Scovronick, Noah; Osorio, Samuel; Tong, Shilu; Seposo, Xerxes; Guo, Yue Leon; Guo, Yuming; Bell, Michelle L.Background: Identifying how greenspace impacts the temperature-mortality relationship in urban environments is crucial, especially given climate change and rapid urbanization. However, the effect modification of greenspace on heat-related mortality has been typically focused on a localized area or single country. This study examined the heat-mortality relationship among different greenspace levels in a global setting. Methods: We collected daily ambient temperature and mortality data for 452 locations in 24 countries and used Enhanced Vegetation Index (EVI) as the greenspace measurement. We used distributed lag non-linear model to estimate the heat-mortality relationship in each city and the estimates were pooled adjusting for city-specific average temperature, city-specific temperature range, city-specific population density, and gross domestic product (GDP). The effect modification of greenspace was evaluated by comparing the heat-related mortality risk for different greenspace groups (low, medium, and high), which were divided into terciles among 452 locations. Findings: Cities with high greenspace value had the lowest heat-mortality relative risk of 1·19 (95% CI: 1·13, 1·25), while the heat-related relative risk was 1·46 (95% CI: 1·31, 1·62) for cities with low greenspace when comparing the 99th temperature and the minimum mortality temperature. A 20% increase of greenspace is associated with a 9·02% (95% CI: 8·88, 9·16) decrease in the heat-related attributable fraction, and if this association is causal (which is not within the scope of this study to assess), such a reduction could save approximately 933 excess deaths per year in 24 countries. Interpretation: Our findings can inform communities on the potential health benefits of greenspaces in the urban environment and mitigation measures regarding the impacts of climate change.
- Dried blood spots in clinical lipidomics: optimization and recent findingsPublication . Ferreira, Helena Beatriz; Guerra, Inês M.S.; Melo, Tânia; Rocha, Hugo; Moreira, Ana S.P.; Paiva, Artur; Domingues, M. RosárioDried blood spots (DBS) are being considered as an alternative sampling method of blood collection that can be used in combination with lipidomic and other omic analysis. DBS are successfully used in the clinical context to collect samples for newborn screening for the measurement of specific fatty acid derivatives, such as acylcarnitines, and lipids from whole blood for diagnostic purposes. However, DBS are scarcely used for lipidomic analysis and investigations. Lipidomic studies using DBS are starting to emerge as a powerful method for sampling and storage in clinical lipidomic analysis, but the major research work is being done in the pre- and analytical steps and procedures, and few in clinical applications. This review presents a description of the impact factors and variables that can affect DBS lipidomic analysis, such as the type of DBS card, haematocrit, homogeneity of the blood drop, matrix/chromatographic effects, and the chemical and physical properties of the analyte. Additionally, a brief overview of lipidomic studies using DBS to unveil their application in clinical scenarios is also presented, considering the studies of method development and validation and, to a less extent, for clinical diagnosis using clinical lipidomics. DBS combined with lipidomic approaches proved to be as effective as whole blood samples, achieving high levels of sensitivity and specificity during MS and MS/MS analysis, which could be a useful tool for biomarker identification. Lipidomic profiling using MS/MS platforms enables significant insights into physiological changes, which could be useful in precision medicine.
- Interaction between T. castaneum and mycotoxin-producing fungi present in milled grainsPublication . Duarte, Sónia; Hilário, Carolina; Tomás, Joana; Alvito, Paula; Boavida, Ricardo; Magro, Ana; Carvalho, Maria OtiliaThis work aims to study the interaction between two organisms when they grow together in maize flour: Aspergillus flavus Link and Tribolium castaneum Herbst. Two strains of A. flavus were used, one atoxigenic and the other producing aflatoxins. Trials involved a control of only maize flour, maize flour with insects, maize flour with fungi and maize flour with these both organisms (A. flavus and T. castaneum). The development of all these organisms in maize flour was observed. The mycotoxigenic strain of A. flavus produced aflatoxin B1 and B2. However, this production was significantly higher when the fungi was interacting with insects, exceeding the limits allowed by EU in food. AFG1 and AFG2 were not found in any of the treatments. The fungi development seemed to exert a negative effect on the insects survival, as it caused their death, regardless of the putative chemical defenses that this insect has towards other compting organisms, the benzoquinones. It was observed that the adults of red flour beetle promote not only the dispersal and growth of the fungi, as well as seem to stimulate mycotoxin production.
- Haemophilus influenzae Carriage among Healthy Children in Portugal, 2015-2019Publication . Bajanca-Lavado, Maria Paula; Cavaco, Luís; Fernandes, Mariana; Touret, Tiago; Candeias, Catarina; Simões, Alexandra S.; Sá-Leão, RaquelHaemophilus influenzae is an important cause of mucosal and invasive infections and a common colonizer of the upper respiratory tract. As there are no recent data on H. influenzae carriage in Portugal, we aimed to characterize carriage samples and investigate possible parallelisms with disease isolates. Between 2016–2019, 1524 nasopharyngeal samples were obtained from children (0–6 years) attending day-care. H. influenzae were serotyped and screened for β-lactamase production. Strains producing β-lactamase and/or those that were encapsulated were further characterized by antibiotype; encapsulated strains were also investigated for MLST and the presence of antimicrobial resistance and virulence genes (extracted from whole genome sequencing). The overall carriage rate was 84.1%. Most isolates (96.7%) were nonencapsulated. Encapsulated strains were of serotypes f (1.8%), e (1.1%), a (0.3%), and b (0.1%). MLST showed clonality within serotypes. Although the lineages were the same as those that were described among disease isolates, colonization isolates had fewer virulence determinants. Overall, 7.5% of the isolates were β-lactamase positive; one isolate had blaTEM-82, which has not been previously described in H. influenzae. A single isolate, which was identified as H. parainfluenzae, had an incomplete f-like cap locus. In conclusion, circulation of serotype b is residual. The few encapsulated strains are genetically related to disease-causing isolates. Thus, surveillance of H. influenzae carriage should be maintained.
- SARS-CoV-2 seroprevalence studies: the Portuguese experience in last 2 years and next stepsPublication . Rodrigues, Ana Paula; on behalf of the ISN COVID-19 groupPortuguese experience in SARS-CoV-2 seroprevalence studies
- Pregnancy during COVID-19: social contact patterns and vaccine coverage of pregnant women from CoMix in 19 European countriesPublication . Wong, Kerry L.M.; Gimma, Amy; Paixao, Enny; Paolotti, Daniela; Karch, André; Jäger, Veronika; Baruch, Joaquin; Melillo, Tanya; Hudeckova, Henrieta; Rosińska-Bukowska, Magdalena; Niedźwiedzka-Stadnik, Marta; Fischer, Krista; Vorobjov, Sigrid; Sõnajalg, Hanna; Althaus, Christian; Low, Nicola; Reichmuth, Martina L.; Auranen, Kari; Nurhonen, Markku; Petrović, Goranka; Makaric, Zvjezdana Lovric; Namorado, Sónia; Caetano, Constantino; Santos, Ana João; Röst, Gergely; Oroszi, Beatrix; Karsai, Márton; Fafangel, Mario; Klepac, Petra; Kranjec, Natalija; Vilaplana, Cristina; Casabona-Barbarà, Jordi; FAES, Christel; Beutels, Philippe; Hens, Niel; Jarvis, Christopher; Edmunds, JohnBackground: Evidence and advice for pregnant women evolved during the COVID-19 pandemic. We studied social contact behaviour and vaccine uptake in pregnant women between March 2020 and September 2021 in 19 European countries. Methods: In each country, repeated online survey data were collected from a panel of nationally-representative participants. We calculated the adjusted mean number of contacts reported with an individual-level generalized additive mixed model, modelled using the negative binomial distribution and a log link function. Mean proportion of people in isolation or quarantine, and vaccination coverage by pregnancy status and gender were calculated using a clustered bootstrap. Findings: We recorded 4,129 observations from 1,041 pregnant women, and 115,359 observations from 29,860 non-pregnant individuals aged 18-49. Pregnant women made slightly fewer contacts (3.6, 95%CI = 3.5-3.7) than non-pregnant women (4.0, 95%CI = 3.9-4.0), driven by fewer work contacts but marginally more contacts in non-essential social settings. Approximately 15-20% pregnant and 5% of non-pregnant individuals reported to be in isolation and quarantine for large parts of the study period. COVID-19 vaccine coverage was higher in pregnant women than in non-pregnant women between January and April 2021. Since May 2021, vaccination in non-pregnant women began to increase and surpassed that in pregnant women. Interpretation: Limited social contact to avoid pathogen exposure during the COVID-19 pandemic has been a challenge to many, especially women going through pregnancy. More recognition of maternal social support desire is needed in the ongoing pandemic. As COVID-19 vaccination continues to remain an important pillar of outbreak response, strategies to promote correct information can provide reassurance and facilitate informed pregnancy vaccine decisions in this vulnerable group.
- Depression and multimorbidity - Results from a nationwide studyPublication . Pedrosa, Bárbara; Neto, Mariana; Namorado, Sónia; Leite, AndreiaBackground and objectives: Most studies concerning the relationship between depression and chronic physical disease focused on a single physical disease and did not consider multimorbidity or depression severity. We aimed to characterize this relationship considering chronic physical diseases’ type and number, and depression severity. Methods: We undertook a cross-sectional study, using data from a phone household panel, with “chronic physical disease” as the exposure and “depression” as the outcome. The sample is representative of the Portuguese population. Adjusted logistic and multinomial regression analyses were conducted between depression presence/severity and chronic physical disease presence/type/number. Odds ratio and 95% confidence intervals adjusted for possible confounders were calculated. Results: 1027 individuals were included. Of the population, 8.9% had depression and 72.1% had at least one chronic physical disease. There was no statistically significant relationship between depression and physical disease in general (OR=1.68 [CI95%:0.55, 5.15]), but there was with allergy (OR=2.08 [CI95%:1.02, 4.25]) and COPD (OR=3.04 [CI95%:1.21, 7.61]). The risk of depression was smaller with two physical diseases (vs. three or more, OR=0.32 [CI95%:0.15, 0.68]). Conclusions: A relationship between COPD, allergy and a higher number of physical diseases and depression was observed. Clinicians should be aware of these relationships. Evaluating the presence of depression in people with multimorbidity, COPD and allergy is recommended.
- Monkeypox virus infection in HIV-1- coinfected patients previously vaccinated against smallpox: A series of 4 cases from PortugalPublication . Brazão, C.; Garrido, P.M.; Alpalhão, M.; Roda, A.; Vieitez-Frade, J.; Ferreira, J.A.; Pelerito, A.; Lopes de Carvalho, I.; Cordeiro, R.; Borrego, M.J.; Filipe, P.Monkeypox is a zoonotic orthopoxvirus that incidentally causes disease in humans similar to smallpox, although with lower mortality. This virus is endemic to western and central Africa, with outbreaks in occidental countries related to exotic pet trade and international travel. Coincident immunity to monkeypox virus was previously achieved with vaccinia virus vaccination; however, eradicating smallpox and subsequent lack of vaccination efforts paved the way for monkeypox to gain clinical relevance. Clinically, initial manifestations include fever, headache, myalgia, fatigue and lymphadenopathy. After 1–2 days, skin and mucosal umbilicated lesions develop with subsequent centrifugal dissemination. Since early May 2022, many countries in Europe, Australia and the United States have reported an increasing number of monkeypox cases, configuring an outbreak with public health implications.1 Portugal is one of the most affected countries, with numerous confirmed cases. Sequencing of the virus has been achieved in Portugal, suggesting this virus belongs to the West African clade of monkeypox virus. (...)
- Thymus mastichina (L.) L. and Cistus ladanifer L. for skin application: chemical characterization and in vitro bioactivity assessmentPublication . Oliveira, Ana S.; Rolo, Joana; Gaspar, Carlos; Ramos, Leonor; Cavaleiro, Carlos; Salgueiro, Lígia; Palmeira-de-Oliveira, Rita; Teixeira, João Paulo; Martinez-de-Oliveira, José; Palmeira-de-Oliveira, AnaEthnopharmacological relevance: Thymus mastichina (L.) L. (TM) and Cistus ladanifer L. (CL) are two Portuguese autochthonous species with traditional skin application in folk medicine. TM is majorly known for its antiseptic and wound healing properties, as an external anti-inflammatory agent and for its application in folk cosmetics and hygiene products. Its use in acne vulgaris has also been reported. CL is traditionally used in remedies for wounds, ulcers and other skin ailments such as psoriasis and eczema. Its application has been found useful due to its anti-inflammatory, astringent, wound healing and antiseptic properties. Aim of the study: With this work, we aimed to investigate relevant bioactivities related with the traditional application of TM and CL essential oils (EOs) and hydrolates (by-products of EO production) in skin ailments. Specifically their in vitro antioxidant, anti-inflammatory, cytotoxic, wound healing and antimicrobial properties were evaluated. The chemical composition of both EOs and respective hydrolates was also characterized. Materials and methods: Chemical characterization of EOs and hydrolates was performed by GC-FID and GC-MS. Cellular biocompatibility was evaluated using the MTT assay in macrophages (RAW 264.7) and fibroblasts (L929) cell lines. Anti-inflammatory activity was investigated by studying nitric oxide (NO) production by macrophages with Griess reagent. Wound healing potential was evaluated with the scratch-wound assay. The antioxidant potential was studied by the DPPH scavenging method. Antimicrobial activity was evaluated by broth microdilution assay against relevant microbial strains and skin pathogens, namely Staphylococcus aureus, Staphylococcus epidermidis, Cutibacterium acnes, Pseudomonas aeruginosa, Escherichia coli, Candida albicans and Aspergillus brasiliensis. Results: The major compounds present in TM and CL EOs were 1,8-cineole and α-pinene, respectively. 1,8-cineole and E-pinocarveol were the major compounds in the correspondent hydrolates. CL EO presented the highest anti-inflammatory potential [EC50 = 0.002% (v/v)], still with significant cytotoxicity [IC50 = 0.012% (v/v)]. TM preparations presented anti-inflammatory potential, also presenting higher biocompatibility. The same profile was present on fibroblasts regarding biocompatibility of the tested preparations. CL EO and hydrolate increased fibroblasts' migration by 155.7% and 148.4%, respectively. TM hydrolate presented a milder activity than CL hydrolate, but wound healing potential was still present, increasing cell migration by 125.1%. All preparations presented poor antioxidant capacity. CL EO presented higher antimicrobial activity, with MICs ranging from 0.06% (v/v) to 2% (v/v), against different microorganisms. Conclusions: Anti-inflammatory and skin repairing potential were present for CL preparations. TM hydrolate presented an interesting biocompatible profile on both cell lines, also presenting anti-inflammatory potential. Furthermore, EOs from both species presented antimicrobial activity against a panel of different microorganisms. These in vitro bioactivities support some of their traditional skin applications, specifically regarding their antiseptic, wound healing and anti-inflammatory uses.
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