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- Maternal risk factors for the VACTERL association: a EUROCAT case-control studyPublication . van de Putte, Romy; van Rooij, Iris A.L.M.; Haanappel, Cynthia P.; Marcelis, Carlo L.M.; Brunner, Han G.; Addor, Marie‐Claude; Cavero‐Carbonell, Clara; Matias Dias, Carlos; Draper, Elizabeth S.; Etxebarriarteun, Larraitz; Gatt, Miriam; Khoshnood, Babak; Kinsner‐Ovaskainen, Agnieszka; Klungsoyr, Kari; Kurinczuk, Jenny J.; Latos‐Bielenska, Anna; Luyt, Karen; O'Mahony, Mary T.; Miller, Nicola; Mullaney, Carmel; Nelen, Vera; Neville, Amanda J.; Perthus, Isabelle; Pierini, Anna; Randrianaivo, Hanitra; Rankin, Judith; Rissmann, Anke; Rouget, Florence; Schaub, Bruno; Tucker, David; Wellesley, Diana; Wiesel, Awi; Zymak‐Zakutnia, Natalya; Loane, Maria; Barisic, Ingeborg; Walle, Hermien E.K.; Bergman, Jorieke E.H.; Roeleveld, NelBackground: The VACTERL association (VACTERL) is the nonrandom occurrence of at least three of these congenital anomalies: vertebral, anal, cardiac, tracheoesophageal, renal, and limb anomalies. Despite suggestions for involvement of several genes and nongenetic risk factors from small studies, the etiology of VACTERL remains largely unknown. Objective: To identify maternal risk factors for VACTERL in offspring in a large European study. Methods: A case-control study was performed using data from 28 EUROCAT registries over the period 1997-2015 with case and control ascertainment through hospital records, birth and death certificates, questionnaires, and/or postmortem examinations. Cases were diagnosed with VACTERL, while controls had a genetic syndrome and/or chromosomal abnormality. Data collected included type of birth defect and maternal characteristics, such as age, use of assisted reproductive techniques (ART), and chronic illnesses. Multivariable logistic regression analyses were performed to estimate confounder adjusted odds ratios (aOR) with 95% confidence intervals (95% CI). Results: The study population consisted of 329 VACTERL cases and 49,724 controls with recognized syndromes or chromosomal abnormality. For couples who conceived through ART, we found an increased risk of VACTERL (aOR 2.3 [95% CI 1.3, 3.9]) in offspring. Pregestational diabetes (aOR 3.1 [95% CI 1.1, 8.6]) and chronic lower obstructive pulmonary diseases (aOR 3.9 [95% CI 2.2, 6.7]) also increased the risk of having a child with VACTERL. Twin pregnancies were not associated with VACTERL (aOR 0.6 [95% CI 0.3, 1.4]). Conclusion: We identified several maternal risk factors for VACTERL in offspring befitting a multifactorial etiology.
- Aspergillus e aspergilose: sua relevância no contexto atualPublication . Sabino, RaquelEsta apresentação visa abordar aspetos clínicos das infeções por Aspergillus, diagnóstico laboratorial da aspergilose e questões emergentes relacionadas com a temática.
- Perspectives from a National Reference Laboratory surveillance program on Aspergillus epidemiology and azole resistance” - painel “Fungal infections in Portugal”,Publication . Sabino, RaquelA retrospective laboratory-based study (2017-2018) on Aspergillus surveillance was performed at the national mycology reference laboratory of Portugal. The primary objective were the knowledge of the molecular epidemiology of clinical and environmental Aspergillus isolates. A. fumigatus sensu stricto was the most frequent species in both clinical and environmental sources. A very high frequency of cryptic species was identified. A second objective was the determination of the frequency of azole resistance of A. fumigatus. All isolates included in our collection (2012-2019) identified as belonging to Fumigati section were recovered and screened. The overall frequency of resistance to azoles in A. fumigatus sensu stricto was 3.0% (four clinical and five environmental isolates). The TR34/L98H mutation, linked to environmental transmission route of azole resistance the most frequently detected mutation, found in three environmental and one clinical isolate (1.4%).
- Assessment of indoor air exposure at residential homes: Inhalation dose and lung deposition of PM10, PM2.5 and ultrafine particles among newborn children and their mothersPublication . Madureira, Joana; Slezakova, Klara; Silva, Ana Inês; Lage, Bruna; Mendes, Ana; Aguiar, Lívia; Pereira, Maria Carmo; Teixeira, João Paulo; Costa, CarlaAccurate assessment of particulate matter (PM) dose and respiratory deposition is essential to better understand the risks of exposure to PM and, consequently, to develop the respective risk-control strategies. In homes, this is especially relevant in regards to ultrafine particles (UFP; <0.1 μm) which origin in these environments is mostly due to indoor sources. Thus, this study aimed to estimate inhalation doses for different PM mass/number size fractions (i.e., PM10, PM2.5 and UFP) in indoor air of residential homes and to quantify the deposition (total, regional and lobar) in human respiratory tract for both newborn children and mothers. Indoor real-time measurements of PM10, PM2.5 and UFP were conducted in 65 residential homes situated in Oporto metropolitan area (Portugal). Inhalation doses were estimated based on the physical characteristics of individual subjects and their activity patterns. The multi-path particle dosimetry model was used to quantify age-specific depositions in human respiratory tract. The results showed that 3-month old infants exhibited 4-fold higher inhalation doses than their mothers. PM10 were primarily deposited in the head region (87%), while PM2.5 and UFP depositions mainly occurred in the pulmonary area (39% and 43%, respectively). Subject age affected the pulmonary region and the total lung deposition; higher deposition being observed among the newborns. Similarly, lower lobes (left lobe: 37% and right lobe: 30%) received higher PM deposition than upper and middle lobes; right lobes lung are prone to be more susceptible to respiratory problems, since asymmetric deposition was observed. Considering that PM-related diseases occur at specific sites of respiratory system, quantification of site-specific particle deposition should be predicted in order to better evidence the respective health outcomes resulting from inhaled PM.
- Participação em AEQ (Avaliação Externa da Qualidade) - PNAEQPublication . Faria, Ana PaulaAgenda: 1- Laboratório e Controlo da qualidade 2- Participação em AEQ 3- Interpretação dos resultados de AEQ 4- Aplicabilidade dos resultados de AEQ 5- UAEQ-PNAEQ