Carlos Família

Periodontitis (PD), the second most prevalent oral disease, contributes to systemic health issues and results from a complex interaction between microbial dysbiosis and host immune responses, strongly shaped by genetic background. This pilot case–control study evaluated associations between five inflammation-related variants (IL1A rs1800587, IL1B rs1143634, IL1B rs16944, IL1RN rs4251961, TNFA rs1800629) and PD susceptibility in Portuguese postpartum women. Eighty-eight women (33 PD patients and 55 controls) were genotyped using iPLEX Gold technology. Associations were tested using logistic regression models, with multiple-testing correction applied to adjust significance thresholds. TNFA rs1800629 was associated with PD in the collapsed model (GA+AA vs. GG; OR = 3.3, p < 0.05). IL1RN rs4251961 showed strong associations across all models. In the codominant model, heterozygotes had increased PD odds (OR = 3.52, adjusted p < 0.05), while CC homozygotes showed 8-fold odds (OR = 8.1, adjusted p < 0.05). The collapsed model was also significant (p < 0.05). The remaining variants were not associated with PD. IL1RN rs4251961 may represent a novel genetic marker for PD, with clinical relevance given its inflammatory role and therapeutic use of recombinant IL-1RA in chronic inflammatory diseases. This first report linking IL1RN rs4251961 to PD supports validation in larger European cohorts.

Legal documents signed by individuals with Parkinson’s disease are often disputed due to inconsistencies in their signatures when compared to those executed prior to the disease. This exploratory study aims to develop a handwriting rehabilitation kit designed to improve fine motor skills in the elderly diagnosed with Parkinson’s disease. This study involved ten subjects with a diagnosis of Parkinson’s disease, four of whom participated in the rehabilitation program and used the kit, while the remaining six were assigned to the control group. All participants underwent traditional rehabilitation and clinical evaluation before and after the twelve-week intervention, as well as satisfaction questionnaires following the intervention. The main changes observed in the intervention group indicated progress, including a reduction in tremor and bradykinesia. The potential clinical and handwriting benefits, as well as the positive feedback and program adherence from participants, support the development of a user-friendly kit for this subset of the elderly population.

Individuals with Parkinson’s disease often face legal disputes over documents signed before the ongoing disease, since fine motor skill changes can lead to alterations in handwriting. Generally, rehabilitation programs focus on mobility in the lower limbs; however, these individuals also face challenges involving the control of fine motor skills, such as handwriting and maintaining their graphic identity. The aim of this exploratory study is to evaluate the effect of a fine motor skill rehabilitation program on the handwriting of these individuals. This study involved 10 subjects with a diagnosis of Parkinson’s disease, four of whom participated in the rehabilitation program, while the remaining six were allocated to the control group. All participants were instructed to write specific sentences before and after the twelve-week intervention. The main qualitative changes observed between groups after the graphoscopic analysis were in features such as tremors, retouching/overwriting, size, legibility, and line quality.

Background: Preterm birth (PTB) remains the leading cause of neonatal morbidity and mortality worldwide, with approximately two-thirds of cases occurring spontaneously (SPTB), but the etiology is still poorly understood. Chronic inflammatory diseases, such as periodontitis (PD), have been considered SPTB risk factors. However, we hypothesized that SPTB may instead represent a clinical manifestation of a broader genetic predisposition to dysregulated inflammation. Using PD as a model of chronic inflammation, we examined shared genetic susceptibility. Methods: In a case–control study (N = 126 Portuguese postpartum women), we screened 56 SNPs in 36 inflammation-related genes. Four functionally plausible variants (IL1RN rs4251961, TLR1 rs5743618, IL6 rs2069827, and IL6R rs4845617) were selected for detailed regression, adjusting for gestational age, floss usage, and an SPTBxPD interaction term. Results: IL1RN rs4251961 was recessively associated with SPTB risk, consistent with reduced IL-1RA expression linked to this variant. IL6R rs4845617 showed a modest protective effect. TLR1 rs5743618 exhibited the strongest association with the composite “inflammation” phenotype under multiple models, with CC homozygotes showing four-fold increased odds, independent of SPTB/PD co-occurrence. Conclusions: This study provides original evidence that shared genetic variants in inflammatory pathways—particularly TLR1 rs5743618—may underlie susceptibility to SPTB and PD. Our findings suggest a paradigm shift, viewing SPTB as a possible outcome of systemic inflammatory dysregulation rather than merely a consequence of comorbid inflammatory conditions. Future studies should validate this marker in larger cohorts.

Spontaneous preterm birth (SPTB) is a major cause of neonatal morbidity and mortality worldwide. Although a genetic component has been implicated, specific variants remain poorly defined. The potassium calcium-activated channel subfamily N member 3 ( KCNN3 ) gene encodes the SK3 potassium channel, which contributes to myometrial relaxation and uterine quiescence. This study aimed to assess the association between two KCNN3 variants (rs1218585 and rs1218584) and SPTB in a Portuguese postpartum women cohort. Genotyping was performed using iPLEX Gold technology, and logistic regression was applied under multiple inheritance models, with adjustments made to sociodemographic and lifestyle variables. Both variants showed a significant association with SPTB. The GA genotype of rs1218585 and the CG genotype of rs1218584 were associated with 3.67- and 3.00-fold increased odds of SPTB, respectively. Associations remained significant after adjustment and multiple testing corrections. Haplotype analysis also identified a minor allele combination (AG) associated with increased odds of SPTB. These findings support a role for KCNN3 variants in SPTB susceptibility and highlight the potential of SK3 potassium channels in preterm labour pathophysiology. Larger studies in diverse populations are warranted to validate these associations and clarify their potential clinical relevance.

The misuse of opioids and opiates has remained a persistent issue since the 19th century. The recent resurgence of non-fentanyl synthetic opioids, such as U-type opioids and nitazenes, has further exacerbated the ongoing crisis. Identifying these synthetic opioids presents many challenges, including the emergence of new substances, the lack of standards, and the presence of structural isomers. This highlights the need for a robust structural characterisation strategy in forensic laboratories. To address these challenges, we developed a methodology to identify a U-type opioid sample received by Kosmicare from the European Union-funded SCANNER project, which was suspected to be either U-48800 or U-51754. Our innovative approach combined gas chromatography coupled with mass spectrometry (GC-MS), nuclear magnetic resonance spectroscopy (NMR), and molecular dynamics to characterise the questioned sample unequivocally. While the GC-MS analysis suggested a potential match with the mass spectrum of U-51754 and its structural isomer U-48800, NMR analysis confirmed the presence of U-48800 in the sample, which was further validated through molecular dynamics experiments. These experiments provided additional insights, confirming the structural features underlying the obtained NMR profile. The presented methodology offers a valuable solution for cases involving the identification of isomers, which are currently one of the most significant challenges in identifying new psychoactive substances.

Cervical pain has been linked to increased motor unit activity, potentially associated with the initiation and progression of chronic neck pain. Therefore, this study aimed to compare the time-course changes in cervical superficial muscle activation patterns among dental students with and without neck pain throughout their initial semester of clinical training. We used an online Nordic Musculoskeletal Questionnaire for group allocation between neck pain (NP) (n = 21) and control group (CG) (n = 23). Surface electromyography (sEMG) of the sternocleidomastoid and upper bilateral trapezius was recorded before starting their clinical practice and after their first semester while performing a cranio-cervical flexion test (CCFT) in five increasing levels between 22 mmHg and 30 mmHg. After the first semester, both the CG (p < 0.001) and NP (p = 0.038) groups showed decreased sternocleidomastoid activation. The NP group exhibited a concomitant increase in upper trapezius coactivation (p < 0.001), whereas the muscle activation pattern in asymptomatic students remained unchanged (p = 0.980). During the first semester of clinical training, dental students exhibited decreased superficial flexor activity, but those with neck pain had increased co-contraction of the upper trapezius, likely to stabilize the painful segment. This altered activation pattern could be associated with further dysfunction and symptoms, potentially contributing to chronicity.

The requirement for the preservation of evidence in court continues to pose a challenge to forensic document analysis, where the answer to the discrimination of writing utensils is recurrent in requested questions. This study aims to contribute to the identification of the blue and green inks of handwriting instruments using Raman spectroscopy. Based on the Raman spectra obtained and after processing with Spectragryph software, a predictive model was built using KNIME software, where a discriminative power of 72.7% was obtained.

The identification of firearms is of paramount importance for investigating crimes involving firearms, as it establishes the link between a particular firearm and firearm-related elements found at a crime scene, such as projectiles and cartridge cases. This identification relies on the visual comparison of such elements against reference samples from suspect firearms or those existing in databases. Whenever this approach is not possible, the chemical analysis of the gunpowder and gunshot residue can provide additional information that may assist in establishing a link between samples retrieved at a crime scene and those from a suspect or in the identification of the corresponding model and manufacturer of the ammunition used. The most commonly used method for the chemical analysis of gunshot residue is scanning electron microscopy with energy dispersive X-ray, which focuses on the inorganic elements present in ammunition formulation, particularly heavy metals. However, a change in the legal paradigm is pushing changes in these formulations to remove heavy metals due to their potential for environmental contamination and the health hazards they represent. For this reason, the importance of the analysis of organic compounds is leading to the adoption of a different set of analytical methodologies, mostly based on spectroscopy and chromatography. This manuscript reviews the constitution of primer and gunpowder formulations and the analytical methods currently used for detecting, characterising, and identifying their compounds. In addition, this contribution also explores how the information provided by these methodologies can be used in ammunition identification and how it is driving the development of novel applications within forensic ballistics.

The characteristics of health professionals and their understanding of person-centeredness may have important implications for the development of person-centered practice in specific care settings. In this study, we characterized the perceptions of the person-centered practice of a multidisciplinary team of health professionals working in the internal medicine inpatient unit of a Portuguese hospital. Data were collected using a brief sociodemographic and professional questionnaire and the person-centered practice inventory-staff (PCPI-S), and the effect of different sociodemographic and professional variables on each PCPI-S domain was determined using an analysis of variance (ANOVA). The results showed that a person-centered practice was positively perceived in the major constructs of prerequisites (M = 4.12; SD = 0.36), the practice environment (M = 3.50; SD = 0.48), and person-centered process (M = 4.08; SD = 0.62) domains. The highest scored construct was developed interpersonal skills (M = 4.35; SD = 0.47), and the lowest was supportive organization systems (M = 3.08; SD = 0.80). Gender was found to influence the perceptions of knowing self (F(2,75) = 3.67, p = 0.03, partial η² = 0.089) and the physical environment (F(2,75) = 3.63, p = 0.03, partial η² = 0.088), as was profession on shared decision-making systems (F(2,75) = 5.38, p < 0.01, partial η² = 0.125) and commitment to the job (F(2,75) = 5.27, p < 0.01, partial η² = 0.123), and the educational level on being professionally competent (F(1,75) = 4.99, p = 0.03, partial η² = 0.062) and having commitment to the job (F(2,75) = 4.49, p = 0.04, partial η² = 0.056). In addition, the PCPI-S proved to be a reliable instrument for characterizing healthcare professionals’ perceptions of the person-centeredness of care in this context. Identifying personal and professional variables that influence these perceptions could provide a starting point for defining strategies to move practice toward person-centeredness and for monitoring changes in healthcare practice.