On the role of syllable structure in atypical phonological development: Evidence from the acquisition of /l/ by Portuguese children.

The alveolar lateral is phonetically and phonologically complex. Previous studies have shown that /l/ is one of the last segments to be acquired by typically developing Portuguese children. However, little is known about how Portuguese children with atypical development acquire /l/. In this paper, we investigate the acquisition of /l/ by Portuguese children with protracted phonological development (DLD; SSD). We explore the effect of syllable structure and segmental properties in the acquisition of /l/ and describe mismatches used for target /l/, thus contributing empirical evidence to the ongoing discussion on differential diagnoses for children with primary phonological disorders. Our results show that the lateral is more problematic in SSD than in DLD, with the manner of articulation being more problematic than its place. A syllable-segment interface effect was attested. Mismatches showed a preference for [w, ɾ, ø]. The results are discussed considering their implications for clinical practice and the role of target phonetic and phonological properties in the /l/ acquisition path.

Current practices of Portuguese speech-language pathologists with preschool-age children with pragmatic impairment: A cross-sectional survey.

This study aims to investigate the practice patterns used by Portuguese speech-language pathologists (SLPs) with preschool-age children with pragmatic impairment and to identify the actual need(s) perceived by SLPs in this field. A total of 351 SLPs responded. The results reveal that 81.5 per cent of the respondents (n=286) reported working or had previously worked with preschool-age children with pragmatic impairment arising from autism spectrum disorder, developmental language disorder, or both. Considering the clinical practice, similarities and differences were found, many of which are due not to the inherent characteristics of each disorder but to the scarcity of research in clinical pragmatics. These results are also reflected in the needs perceived by SLPs and the degree of confidence with which they work with these children. Implications for clinical practice and directions for future research are discussed.

Primary Cardiac Tumor in the Left Atrium: A Diagnostic Challenge.

An elderly man presented to the emergency department with shortness of breath, peripheral edema, and significant weight loss. Blood tests revealed anemia and elevated inflammatory markers, and chest imaging showed a massive left pleural effusion. During hospitalization, he developed subacute cardiac tamponade, and pericardiocentesis was performed. Further imaging revealed a primary malignant cardiac tumor with extensive infiltration of the cardiac tissue, and biopsy was deemed impossible due to the tumor's location. The most likely diagnosis was angiosarcoma. The cardiac surgery team evaluated the case and considered it inoperable due to the tumor's extensive infiltration. The patient is currently under the regular care of a palliative care team. This case underscores the difficulties of diagnosing primary cardiac tumors, particularly in elderly patients with comorbidities. Despite advances in imaging and surgical techniques, the prognosis for malignant cardiac tumors remains poor.

Morvan's Syndrome: The Importance of Knowing Different Risk-Associated Phenotypes and Antibodies in Identifying the Correct Underlying Tumor.

Paraneoplastic neurologic syndromes (PNS) are neurologic disorders that can affect any part of the nervous system, occur in association with cancer, and have an immune-mediated mechanism that produces direct damage to the neural tissue. Neurological symptoms frequently precede, in months to years, the symptoms directly attributed to the primary tumor, requiring a high clinical suspicion for adequate investigation. We report the case of a man in his early 80s admitted for an altered level of consciousness, alternating between periods with stupor and drowsiness, short-term waking states and psychomotor agitation, respiratory failure and dysautonomia, resembling a Morvan's syndrome. Anti-leucine-rich glioma-inactivated 1 and anti-contactin-associated protein-like 2 antibodies were both positive and, after exclusion of infectious and autoimmune systemic causes, the possibility of PNS was raised. Screening for the primary tumor was pursued, and an 18F-fluorodeoxyglucose (18F-FDG)/PET showed only an intensely hypermetabolic, apparent parietal thickening of the lower rectum. Due to the frequent association of Morvan's syndrome to thymoma, a review of the CT of the thorax images was requested and a mediastinal image with features of thymoma was identified. PNS treatment and prognosis depend on finding and treating the underlying tumor, with benefits in both resolution of neurological symptoms and in the prognosis of the underlying tumor itself. Therefore, clinicians should be aware of this frequent but underdiagnosed and underreported condition, in order to improve the chances of better outcomes.

Abiotrophia defectiva Endocarditis: A Rare Cause with Aggressive Systemic Embolisation and Need of Valve Replacement.

Infective endocarditis (IE) is a well-described infectious disease, one with increased morbidity and mortality being the third or fourth most common life-threatening infection syndrome. Abiotrophia defectiva is a non-motile, catalase negative, gram-positive coccus in a chain, which can be isolated from the oral cavity, intestinal, and genitourinary tracts. IE due to this agent is rare and associated with heart valve destruction, congestive heart failure, and high embolisation rates, these being the major mortality causes. We present a case of IE due to this agent, complicated with a stroke, and splenic and renal infarction, with the need for aortic valve replacement. This article highlights the gaps of knowledge left by the rarity of this disease, which range from its diagnosis to its treatment, and what we need to mitigate such gaps, supported with a case description of a successful treatment of this infection. LEARNING POINTS: Infective endocarditis due to Abiotrophia defectiva has usually an indolent course, but the embolisation potential is very high.The major causes of mortality with this species are congestive heart failure due to valve destruction and the presence of multiple emboli.Surgical intervention rates are high with Abiotrophia defectiva, reaching 50% of cases.

The Effects of the Pragmatic Intervention Programme in Children with Autism Spectrum Disorder and Developmental Language Disorder.

PURPOSE: Children with Autism Spectrum Disorder (ASD) and Developmental Language Disorder (DLD) frequently face pragmatic impairments which may result in learning, socialization, and mental health difficulties, therefore early intervention is crucial. In Portugal, the Pragmatic Intervention Programme (PICP) has been recently developed and validated, but its effects are unknown. This study aims to determine the effects of the PICP on preschool-age children with ASD or DLD with pragmatic impairments. METHODS: A non-randomized controlled trial has been conducted. The children (n = 20) were assigned to the intervention (n = 11) or the control group (waiting list) (n = 9). Each child attended 24 PICP-based intervention sessions provided by a Speech and Language Therapist in kindergarten. The primary outcome measure was a Goal Attainment Scale (GAS) rated by parents and kindergarten teachers. Secondary outcomes include parent/teacher-reported communication skills (Escala de Avaliação de Competências Comunicativas) and an assessment of the child's general language ability (Teste de Linguagem-Avaliação da Linguagem Pré-Escolar). RESULTS: GAS results show that all the children in the intervention group made progress. Statistically significant differences between pre- and post-intervention assessments were found for all secondary outcomes. CONCLUSIONS: The main findings suggest that the PICP improves language in preschool-age children with ASD and DLD with pragmatic difficulties. Further research is needed to analyse the effects of the PICP for each neurodevelopmental disorder individually. These results are crucial and will contribute to future research and evidence-based practice.

Conserved Double Translation Initiation Site for Δ160p53 Protein Hints at Isoform's Key Role in Mammalian Physiology.

p53 is the most commonly mutated gene in human cancers. Two fundamental reasons for this are its long protein isoforms protect from cancer, while its shorter C-terminal isoforms can support cancer and metastasis. Previously, we have shown that the Δ160p53 protein isoform enhances survival and the invasive character of cancer cells. Here, we identified a translation initiation site nine codons downstream of codon 160-the known initiation codon for the translation of Δ160p53-that is recognized by the translation machinery. When translation failed to initiate from AUG160 due to mutation, it initiated from AUG169 instead, producing similar levels of a similar protein, Δ169p53, which promoted cell survival as efficiently as Δ160p53 following DNA damage. Interestingly, almost all mammalian species with an orthologue to human AUG160 also possess one for AUG169, while none of the non-mammalian species lacking AUG160 have AUG169, even if that region of the p53 gene is well conserved. In view of our findings, we do not believe that Δ169p53 acts as a different p53 protein isoform; instead, we propose that the double translation initiation site strengthens the translation of these products with a critical role in cell homeostasis. Future studies will help verify if this is a more general mechanism for the expression of essential proteins in mammals.

Association between personality factors and health-related quality of life in type 1 diabetes patients

ABSTRACT Objectives: The objective of the present study was to evaluate a possible association between personality factors (PF) and the health-related quality of life (HRQoL) of type 1 diabetes (T1D) patients. This allows for the investigation of obstacles related to treatment type and the presence of complications in HRQoL. Materials and methods: This cross-sectional study enrolled 78 patients aged 13-67 years from two diabetes clinics. PF was evaluated using the validated questionnaire Inventory of the Five Great Personality Factors. HRQoL was determined using the Brazilian Problem Areas in Diabetes Scale (B-PAID) questionnaire. The chi-square test, Fisher's exact test, and Welch's modified two-sample t-test were used to establish relationships. Results: In this sample of 46 women and 32 men with T1D and mean A1C of 8%-9%, we observed great suffering in 58.97% and that HRQoL was worse in women. "Openness" was the most prevalent PF and "extroversion" the least prevalent. "Neuroticism" facilitated a tendency to tolerate suffering. Conclusion: T1D patients' personalities influence their treatment. The PF "neuroticism" is potentially related to better HRQoL. Brazilian T1D patients indicated great suffering in their HRQoL, which may be characteristic across the country. Women experienced worse HRQoL, which is in line with world literature. However, the limited sample size in this study warrant further research to test the hypotheses.

Association between personality factors and health-related quality of life in type 1 diabetes patients.

Objective: The objective of the present study was to evaluate a possible association between personality factors (PF) and the health-related quality of life (HRQoL) of type 1 diabetes (T1D) patients. This allows for the investigation of obstacles related to treatment type and the presence of complications in HRQoL. Materials and Methods: This cross-sectional study enrolled 78 patients aged 13-67 years from two diabetes clinics. PF was evaluated using the validated questionnaire Inventory of the Five Great Personality Factors. HRQoL was determined using the Brazilian Problem Areas in Diabetes Scale (B-PAID) questionnaire. The chi-square test, Fisher's exact test, and Welch's modified two-sample t-test were used to establish relationships. Results: In this sample of 46 women and 32 men with T1D and mean A1C of 8%-9%, we observed great suffering in 58.97% and that HRQoL was worse in women. "Openness" was the most prevalent PF and "extroversion" the least prevalent. "Neuroticism" facilitated a tendency to tolerate suffering. Conclusion: T1D patients' personalities influence their treatment. The PF "neuroticism" is potentially related to better HRQoL. Brazilian T1D patients indicated great suffering in their HRQoL, which may be characteristic across the country. Women experienced worse HRQoL, which is in line with world literature. However, the limited sample size in this study warrant further research to test the hypotheses.

Early-Onset Neonatal Pneumococcal Sepsis: An Old but Sometimes Forgotten Pathogen.

Streptococcus pneumoniae (SP) is an uncommon but potentially serious neonatal pathogen. SP is perceived as a significant cause of mortality and morbidity in infancy; however, there are relatively few cases of neonatal sepsis recorded, with an incidence between 1% and 11%. We aim to report the spectrum of morbidity associated with SP infections in the neonatal period. Two cases of neonatal SP infection are reported. The first neonate presented with a very early onset of severe clinical disease with bacteremia and pneumonia. She developed severe pulmonary hypertension and needed intensive ventilatory support, including nitric oxide, and vasoactive drugs. An SP serotype 23B was isolated from blood cultures and bronchial secretions as well as from the mother's vaginal secretions. In the second case, the baby presented with bacteremia and meningitis. He remained hemodynamically stable and did not need respiratory support. Blood and cerebrospinal fluid cultures revealed an SP serotype 8. In both cases, the neonates were treated with vancomycin and cefotaxime. Both mothers remained well and asymptomatic during the perinatal period. These reported cases emphasize the importance of considering a wide range of microorganisms in the differential diagnosis of early-onset neonatal sepsis. Although uncommon, SP can have different clinical manifestations and cause significant diseases in newborns. Specific preventive measures against early-onset sepsis for this pathogen are yet to be implemented due to the absence of sufficient scientific evidence. For this reason, prompt and aggressive treatment remains the best therapeutic approach.

Lymphocyte-Depleted Hodgkin's Lymphoma in Coeliac Disease: A Diagnostic Challenge During the COVID-19 Pandemic.

A 51-year-old woman presented with constitutional symptoms, polydipsia, early satiety, nausea, vomiting, and a pruritic vesicular rash. On physical examination, she was febrile, had low peripheral oxygen saturation in room air (91%), hepatomegaly, lower limb edema, and palpable cervical adenopathies. She was hospitalized for diagnostic investigations and treatment. An autoimmune panel was requested which was positive for anti-parietal gastric cell, anti-endomysial, and anti-tissue transglutaminase antibodies, raising the suspicion for coeliac disease (CD). Gastric and duodenal biopsies were not diagnostic for CD, which was compatible with necrolytic migratory erythema similar to the vesicular rash biopsy. Thoracic-abdomino-pelvic computed tomography scan and fludeoxyglucose F18-positron emission tomography identified supra- and infra-diaphragmatic hypermetabolic adenopathies, with hypermetabolic activity in the lungs, suggestive of pulmonary lymphomatous involvement. Fine-needle aspiration of one supraclavicular adenopathy was performed but was not enough for histological diagnosis. The patient's respiratory insufficiency worsened and she died on day 63 of hospitalization. The final diagnosis was achieved on an anatomopathological autopsy that showed lymphocyte-depleted Hodgkin's lymphoma. The association of CD with other lymphomas besides enteropathy-type T-cell lymphoma is not clear. There is no clear relationship between CD and lymphocyte-depleted Hodgkin's lymphoma, which is the rarest subtype of classic Hodgkin's lymphoma and, by itself, has a very poor prognosis. This case highlights the challenge in diagnosis and significant delay due to isolation associated with coronavirus disease 2019 infection.

Severe Pneumonia Caused by SARS-CoV-2: A Novel Cause of Platypnoea-Orthodeoxia Syndrome.

Platypnoea-orthodeoxia syndrome (POS) is a condition characterized by dyspnoea and hypoxaemia while sitting or standing, which improves during decubitus. It is usually caused by intracardiac right-to-left shunting through a patent foramen ovale but may also occur due to pulmonary ventilation-perfusion mismatch of other aetiologies. A new cause of POS was recently described: SARS-CoV-2 pneumonia. We report the case of a 62-year-old man admitted for SARS-CoV-2 pneumonia with respiratory failure. Chest computed tomography angiography showed pulmonary thromboembolism and parenchymal lung changes compatible with COVID-19. He had worsening dyspnoea in a sitting position, relieved by assuming the dorsal position. He was diagnosed with POS after other causes were excluded. POS is an underdiagnosed complication of COVID-19 and is manageable with respiratory rehabilitation. LEARNING POINTS: Platypnoea-orthodeoxia syndrome is an under-recognized condition presenting as a complication of a structural shunt.We describe SARS-CoV-2 pneumonia as a novel cause for this syndrome.It is a reversible syndrome provided there is early diagnosis and initiation of pulmonary rehabilitation.

Protracted phonological development of a Portuguese six-year-old from the perspective of nonlinear phonology.

As a contribution to a special issue with individual profiles in protracted phonological development (PPD), we present a European Portuguese-speaking six-year-old, "Vicente". By age six years, Portuguese-learning children have generally mastered most of the phonology. However, Vicente showed severe persisting PPD, which was negatively impacting his general socialisation. Although word length and stress often matched the adult targets as did many consonants and vowels, consonants were restricted in distribution and sequences. Consonant clusters showed a particularly high proportion of reduction. A constraints-based nonlinear phonological analysis led to a proposed intervention plan to address needs across the phonological hierarchy in the context of his greater need for enhanced socialisation: starting with the more attainable new word positions and sequences for consonants in his inventory, before addressing a major need for new word structure (clusters) and minor needs for segmental development (additional coronals).

Psychophysiological Reactions of Internet Users Exposed to Fluoride Information and Disinformation: Protocol for a Randomized Controlled Trial.

BACKGROUND: False messages on the internet continually propagate possible adverse effects of fluoridated oral care products and water, despite their essential role in preventing and controlling dental caries. OBJECTIVE: This study aims to evaluate the patterns of psychophysiological reactions of adults after the consumption of internet-based fluoride-related information and disinformation. METHODS: A 2-armed, single-blinded, parallel, and randomized controlled trial will be conducted with 58 parents or caregivers of children who attend the Clinics of Pediatric Dentistry at the Bauru School of Dentistry, considering an attrition of 10% and a significance level of 5%. The participants will be randomized into test and intervention groups, being respectively exposed to fluoride-related information and disinformation presented on a computer with simultaneous monitoring of their psychophysiological reactions, including analysis of their heart rates (HRs) and 7 facial features (mouth outer, mouth corner, eye area, eyebrow activity, face area, face motion, and facial center of mass). Then, participants will respond to questions about the utility and truthfulness of content, their emotional state after the experiment, eHealth literacy, oral health knowledge, and socioeconomic characteristics. The Shapiro-Wilk and Levene tests will be used to determine the normality and homogeneity of the data, which could lead to further statistical analyses for elucidating significant differences between groups, using parametric (Student t test) or nonparametric (Mann-Whitney U test) analyses. Moreover, multiple logistic regression models will be developed to evaluate the association of distinct variables with the psychophysiological aspects. Only factors with significant Wald statistics in the simple analysis will be included in the multiple models (P<.2). Furthermore, receiver operating characteristic curve analysis will be performed to determine the accuracy of the remote HR with respect to the measured HR. For all analyses, P<.05 will be considered significant. RESULTS: From June 2022, parents and caregivers who frequent the Clinics of Pediatric Dentistry at the Bauru School of Dentistry will be invited to participate in the study and will be randomized into 1 of the 2 groups (control or intervention). Data collection is expected to be completed in December 2023. Subsequently, the authors will analyze the data and publish the findings of the clinical trial by June 2024. CONCLUSIONS: This randomized controlled trial aims to elucidate differences between psychophysiological patterns of adults exposed to true or false oral health content. This evidence may support the development of further studies and digital strategies, such as neural network models to automatically detect disinformation available on the internet. TRIAL REGISTRATION: Brazilian Clinical Trials Registry (RBR-7q4ymr2) U1111-1263-8227; https://tinyurl.com/2kf73t3d. INTERNATIONAL REGISTERED REPORT IDENTIFIER (IRRID): PRR1-10.2196/39133.

Impact of COVID-19 Pandemic on In-Hospital Mortality in Patients Without SARS-CoV-2 Infection in an Internal Medicine Ward of a Tertiary Care Hospital in Portugal.

INTRODUCTION: Despite the emergence of a new worldwide cause of death related to COVID-19, several studies have hypothesized that the international mortality rate attributed to non-COVID-19 causes was significantly higher during the COVID pandemic, questioning whether this excess in mortality is related only to COVID-19 or to the difficulties that the healthcare systems faced during the pandemic. Therefore, understanding the impact of the COVID-19 pandemic on the prognosis of patients without severe acute respiratory syndrome coronavirus 2 (SARS-CoV-2) infection is a major unmet need as this was overshadowed by the overwhelming number of patients with SARS-CoV-2. METHODS: This is a retrospective, cross-sectional, observational study in the internal medicine non-COVID-19 wards of a tertiary care hospital in Portugal. A total of 2021 patients without SARS-CoV-2 infection admitted between March and May of 2019 and 2020 were included. For each patient, we collected information regarding demographic characteristics, emergency department admission information, hospitalization information, date of discharge or death, health comorbidities, and current medication. RESULTS: Data from 1013 patients in 2019 and 1008 patients in 2020 was analyzed. The patients' demographic characteristics, health comorbidities, and current medications were distributed in similar patterns in the two studied periods. There was a statistically significant difference in the in-hospital mortality in patients without SARS-CoV-2 infection between 2019 and 2020 (12% vs 17%, p-value < 0.001) and in admission severity in hospitalized patients without SARS-CoV-2 infection between 2019 and 2020 (0.9 vs 0.6, p-value < 0.001). CONCLUSION: Our work showed a statistically significant increase in in-hospital mortality during the COVID-19 pandemic in patients without SARS-CoV-2 infection, which was not apparently explained by differences in the characteristics of hospitalized patients. As this is one of the first works describing the silent impact of the COVID-19 pandemic in Portugal, we believe it holds an important value in the provision of bases for building up future health policies in case of new COVID-19 outbreaks or other medical emergencies.

Protective Role of Flavonoids against Intestinal Pro-Inflammatory Effects of Silver Nanoparticles.

Silver nanoparticles (AgNP) have been increasingly incorporated into food-related and hygiene products for their unique antimicrobial and preservative properties. The consequent oral exposure may then result in unpredicted harmful effects in the gastrointestinal tract (GIT), which should be considered in the risk assessment and risk management of these materials. In the present study, the toxic effects of polyethyleneimine (PEI)-coated AgNP (4 and 19 nm) were evaluated in GIT-relevant cells (Caco-2 cell line as a model of human intestinal cells, and neutrophils as a model of the intestinal inflammatory response). This study also evaluated the putative protective action of dietary flavonoids against such harmful effects. The obtained results showed that AgNP of 4 and 19 nm effectively induced Caco-2 cell death by apoptosis with concomitant production of nitric oxide, irrespective of the size. It was also observed that AgNP induced human neutrophil oxidative burst. Interestingly, some flavonoids, namely quercetin and quercetagetin, prevented the deleterious effects of AgNP in both cell types. Overall, the data of the present study provide a first insight into the promising protective role of flavonoids against the potentially toxic effects of AgNP at the intestinal level.