Changes in Nerve Conduction Studies Predate Clinical Symptoms Onset in Early Onset Val30Met Hereditary ATTR Amyloidosis

Background and purpose: Hereditary amyloidosis related to transthyretin (ATTR) is a rare and progressive disease that, despite the phenotypic heterogeneity, a length-dependent sensorimotor axonal neuropathy (ATTR-PN) is the classic hallmark. Timely diagnosis is paramount for early treatment implementation. Methods: Sixty-nine asymptomatic gene carriers (Val30Met) were assessed during a 4-year period to identify those remaining asymptomatic versus those converting to ATTRV30M-PN. Conversion to symptomatic was defined as presenting with two definite symptoms of ATTRV30M-PN. Composite neurophysiological scores of sensory (SNS), motor (MNS), and sympathetic skin response (SSRS) amplitudes were used to assess neuropathy progression. We used mixed-effects modeling and ordinal logistic regression to assess neurophysiological evolution over time. Results: Of all asymptomatic gene carriers, 55.1% (n = 38/69) converted over the period of this analysis. The progression of the SNS relative to baseline was different between groups (asymptomatic gene carriers vs. converters), the decline being greater in the converter group (time × group interaction p = 0.040), starting about 2 years before symptom onset. No significant change occurred regarding MNS or SSRS. Moreover, the percentage of cases with an annual decline on the SNS of at least 25%, gradually and significantly increased in the converter group, representing a 1.92 increase in risk of developing symptoms for those with such reduction on the last evaluation. Conclusions: A simple composite neurophysiological sum score can predict the onset of ATTRV30M-PN symptoms by as much as 2 years, highlighting the importance of a systematic follow-up of asymptomatic gene carriers, allowing a timely diagnosis, and management of symptomatic disease.info:eu-repo/semantics/publishedVersio

The association between stigmatizing attitudes towards depression and help seeking attitudes in college students

Depression stigma has been considered a significant barrier to treatment and rehabilitation. This study aimed to understand the effects of gender, previous mental health care, and symptomatology on depression stigma and analyze the impact of depression stigma on help-seeking attitudes. A total of 969 students with a mean age of 18.87 (SD = 1.49) were included in this study and completed the Depression Stigma Scale, the Attitude Toward Seeking Professional Psychological Help, the Patient Health Questionnaire-4 questionnaire, and a socio-demographic questionnaire. We analyzed data using SPSS 24.0, with a 95% confidence interval. Participants came from all University schools, and 64.6% were women. Personal stigma and help-seeking attitudes were affected by gender (β(male) = 5.65, CI = 4.07, 7.25) and previous access to mental healthcare services (β(previous help) = -4.35, CI = -5.89, -2.82). Perceived depression stigma was affected gender (β(male) = -2.67, CI = -5.00, -0.34) and symptomatology (β(no symptomatology) = -3.29, CI = -6.09, -0.49). Personal (r = -0.42, p<0.01) and perceived (r = 0.10, p<0.01) depression stigma correlated with help-seeking attitudes, but we detected no direct symptomatology effect on help-seeking attitudes. Personal depression stigma significantly affected help-seeking attitudes (β = -0.15, CI = -0.17, -0.12). Promoting literacy may decrease personal depression stigma and increase professional help-seeking attitudes and behaviors. © 2022 Conceição et al. This is an open access article distributed under the terms of the Creative Commons Attribution License, which permits unrestricted use, distribution, and reproduction in any medium, provided the original author and source are credited.This study was funded by the Center for Psychology at the University of Porto, Portuguese Science Foundation CPUP FCT (grant number UIDB/00050/2020) awarded to IR

Síndrome HELLP sobreposta a síndrome hemolítica-urêmica

A pregnancy complicated by typical hemolytic uremic syndrome (HUS) and hemolysis, elevated liver enzymes, low platelets (HELLP) syndrome is reported. At 20 weeks of gestation, a case of HUS was diagnosed, with Shiga toxin-producing Escherichia coli identified. Plasmapheresis allowed continuation of the pregnancy for 5 weeks. Superimposed preeclampsia and HELLP syndrome were diagnosed after the establishment of nephrotic range proteinuria, hypertension and recurrence of hemolysis. This is a singular case, as it demonstrates that HELLP syndrome can superimpose upon HUS, a fact that can impact future research on reproductive immunology. It also reminds clinicians that the overlapping of clinical and laboratory findings in HELLP syndrome makes the diagnosis of other thrombotic microangiopathies during pregnancy a clinical challenge.info:eu-repo/semantics/publishedVersio

Depression and anxiety consequences of the COVID-19 pandemic: A longitudinal cohort study with university students

Introduction. For young people, just as in the general population, COVID-19 caused many changes in their lives. The literature review has shown an increased risk for mental illness symptoms as a consequence of the pandemic. Objectives. With this study, we aimed to evaluate the impact of COVID-19 pandemic in university students’ anxiety and depression symptoms. Methods. This study is part of a larger longitudinal research on university students’ mental health with the Portuguese version of The Patient Health Questionnaire (PHQ-9) and the Portuguese version of the Generalised Anxiety Disorder (GAD-7) data with evaluations on January, May and October 2019 and June 2020, as well as socio-demographic information. Results. 341 university students (257 females and 84 males) were included in this study, with a mean age of 19.91 (SD=1.58). In June 2020, the mean for perceived well-being loss was 60.47% (SD=26.56) and 59.54% (SD=28.95) for mental health loss. In the PHQ-9, the proportion of students with scores equal or above 15 ranged between 22.6% and 25.5% in 2019, however, in June 2020, the proportion was significantly higher (37.0%). The proportion of GAD-7 scores above the cut-off 10 ranged between 46.0% and 47.8% in 2019, and, in 2020, 64.5% of the students scored 10 or above. Compared with preceding trends, PHQ-9 scores were 3.11 (CI=2.40-3.83) higher than expected, and GAD-7 scores were 3.56 (CI=2.75-5.37) higher. Conclusions. COVID-19 had a negative impact on depressive and anxiety symptoms in university students, in line with the literature and confirming the vulnerability of young people in such uncertain times

Avaliação do potencial dos campos do Amapá e Marajó para fins agropecuários.

bitstream/item/60112/1/CPATU-PA99.pd

Nasal obstruction in neonates: Two cases report of congenital nasal pyriform aperture stenosis

A Estenose Congénita do Orifício Piriforme (ECOP) é uma causa rara de obstrução nasal no recém-nascido, um respirador nasal obrigatório, e por isso potencialmente fatal. Obriga a diagnóstico diferencial com causas mais comuns como a atrésia choanal. Na clínica predominam a apneia episódica e a cianose cíclica, sendo o diagnóstico confirmado imagiologicamente. Pode surgir isoladamente ou associada a alterações crâniofaciais, hipopituitarismo e cromossomopatias. A correcção cirúrgica impõe-se face ao insucesso do tratamento médico. Este artigo tem por objectivo relatar dois casos clínicos de ECOP. O primeiro caso foi diagnosticado à nascença, não apresentava patologia concomitante e estabilizou clinicamente apenas com terapêutica médica. O segundo caso relata lactente de 3 meses, cujo estudo imagiológico identificou dente incisivo superior mediano único, como malformação associada. Pela gravidade da obstrução nasal a abordagem exigiu, para além da terapêutica nasal tópica, a correcção cirúrgica da estenose. Ambas as crianças encontram-se clinicamente beminfo:eu-repo/semantics/publishedVersio

Total reuse of brewer’s spent grain in chemical and biotechnological processes for the production of added-value compounds

Brewer’s spent grain was fractionated by means of three different procedures: dilute acid hydrolysis, for the hemicellulose recovery; alkaline hydrolysis, for the lignin solubilization, and enzymatic hydrolysis, for the cellulose conversion into glucose. The best hydrolysis conditions were optimized to each case. The cellulosic and hemicellulosic hydrolysates produced under these conditions were used as fermentation medium for the production of lactic acid and xylitol, respectively. The efficiency of hemicellulose acid hydrolysis was >85% for all the evaluated conditions, but xylitol production was highest (0.70 g/g xylose) when the hydrolysate was obtained at 120 ºC, 17 min, using 1:8 g:g solid:liquid ratio, and 100 mg H2SO4/g dry matter. The best alkaline hydrolysis condition (120 ºC, 90 min, 2% w/v NaOH, 1:20 g:g solid:liquid ratio) gave a pulp constituted by 90.4% (w/w) cellulose, and a liquor containing several phenolic acids, mainly ferulic and p-coumaric. In the optimum condition of cellulose enzymatic hydrolysis (45 FPU/g dry matter, 100 rpm, 2% w/v substrate, 45 ºC, 96 h), cellulose was converted into glucose with 93.1% efficiency, and lactic acid was produced with high yield (0.98 g/g glucose) from this hydrolysate

First report of a norovirus outbreak associated with the variant Sydney 2012 in Portugal

Introduction: This study describes the investigation of a gastroenteritis outbreak in a group of students, associated with a dinner reunion in February 2013 in Porto, Portugal. Methodology: An anonymous structured questionnaire was developed and sent to 34 students who attended the dinner reunion. Eighteen students completed the questionnaire and thirteen met the case definition (attack rate of 72%). Stools from two students were screened for norovirus by RT-PCR using primer pairs that target the highly conserved polymerase gene and the capsid gene. Results: Norovirus genotyping confirmed the variant Sydney 2012 as the probable cause of the outbreak. Conclusion: This is the first report of an outbreak associated with the new variant Sydney 2012 in Portugal.The study was supported by FEDER funds through Programa Operacional Factores de Competividade (COMPETE), by national funding through Fundação para a Ciência e a Tecnologia (FCT) (project PTDC/CVT/113218/2009), and by grant SFRH/BD/45407/2008, and by project Ovislab ICT-2013-05-004-5314 ID-64757