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- A 17-Year-Old Boy With Hemifacial Flushing and Anhidrosis.Publication . Farinha, Pedro Simões; Ferreirinha, Ana; Vilela, Beatriz; Duarte, Bruno
- Abdominal Hypoperfusion and Acute Kidney Injury in the Critically Ill Patient with Liver Cirrhosis: A Prospective Cohort Study.Publication . Pereira, Rui; Lopes, Diogo; Brandão Machado, Sara; Val-Flores, Luís; Caeiro, Fernando; Perdigoto, Rui; Marcelino, Paulo; Saliba, FaouziReduced abdominal perfusion pressure (APP) is an underdiagnosed potential pathophysiological mechanism for acute kidney injury (AKI) in the patient with liver cirrhosis and ascites. This study aimed to analyze the prevalence of abdominal hypoperfusion (AhP) (APP <60 mm Hg) and the impact of APP on AKI in critically ill patients with liver cirrhosis. This was a post hoc analysis from a prospective cohort study set in a general ICU at a tertiary university hospital. Patients were recruited between October 2016 and December 2021. Acute renal failure (ARF) was defined by stage 3 AKI according to the International Club of Ascites. Fifty-eight patients where included, with a mean age of 57 (±8.4) years, 79% were male, and 93% had acute-on-chronic liver failure at admission. The prevalence of AhP reached 75%, and 29% of cases had persisting AhP during the first week of ICU stay. Patients with baseline AhP had a higher 28-day mortality compared to those without AhP (respectively, 76% vs. 49%, = 0.03). Acute renal failure developed in 48% of patients. Higher serum urea (aOR: 1.01, 95% CI: 1.00-1.02, = 0.04) and white blood cell count (aOR: 1.1, 95% CI: 1.01-1.2, = 0.02) at ICU admission, as well as low persisting APP (aOR: 0.9, 95% CI: 0.86-0.98, = 0.02) were independent risk factors for ARF. Critically ill patients with liver cirrhosis presented a high prevalence of ARF, independently associated with higher baseline serum urea and WBC, and lower persisting APP. A structured clinical approach to optimize APP may reduce renal dysfunction in high-risk patients with cirrhosis.
- Academic Primary Care Units: From Dream to RealityPublication . Correia, Gil; Pereira, António; Bulhões, Cláudia; Outeirinho, Conceição; Prazeres, Filipe; Rosendo, Inês; Antunes, José Pedro; Monteiro, Luís; Jacinto, Nuno; Broeiro-Gonçalves, Paula; Santos, Paulo; Simões, Pedro; Resendes Martins, Raquel; Correia, Rubina; Maricoto, Tiago; Santiago, Luiz Miguel
- Acoustic and Clinical Data Analysis of Vocal Recordings: Pandemic Insights and Lessons.Publication . Carreiro-Martins, Pedro; Paixão, Paulo; Caires, Iolanda; Matias, Pedro; Gamboa, Hugo; Soares, Filipe; Gomez, Pedro; Sousa, Joana; Neuparth, NunoBackground/Objectives: The interest in processing human speech and other human-generated audio signals as a diagnostic tool has increased due to the COVID-19 pandemic. The project OSCAR (vOice Screening of CoronA viRus) aimed to develop an algorithm to screen for COVID-19 using a dataset of Portuguese participants with voice recordings and clinical data. Methods: This cross-sectional study aimed to characterise the pattern of sounds produced by the vocal apparatus in patients with SARS-CoV-2 infection documented by a positive RT-PCR test, and to develop and validate a screening algorithm. In Phase II, the algorithm developed in Phase I was tested in a real-world setting. Results: In Phase I, after filtering, the training group consisted of 166 subjects who were effectively available to train the classification model (34.3% SARS-CoV-2 positive/65.7% SARS-CoV-2 negative). Phase II enrolled 58 participants (69.0% SARS-CoV-2 positive/31.0% SARS-CoV-2 negative). The final model achieved a sensitivity of 85%, a specificity of 88.9%, and an F1-score of 84.7%, suggesting voice screening algorithms as an attractive strategy for COVID-19 diagnosis. Conclusions: Our findings highlight the potential of a voice-based detection strategy as an alternative method for respiratory tract screening.
- Acute Onset of Adult Alexander Disease and the Concept of GFAP Toxicity.Publication . Godinho, Filipe; Guerreiro, Carolina; Parente Freixo, João; Oliveira, Jorge; Lourenço Rosa, José
- Acute Symptomatic Seizures in Patients with Recurrent Ischemic Stroke: A Multicentric Study.Publication . Leal Rato, Miguel; Schön, Miguel; Zafra, Maria Paula; Aguiar de Sousa, Diana; Pinho E Melo, Teresa; Franco, Ana Catarina; Peralta, Ana Rita; Ferreira-Atuesta, Carolina; Mayor-Romero, Luis Carlos; Rouhl, Rob P W; Bentes, CarlaObjective: Epileptic seizures occur frequently after stroke due to changes in brain function and structure, and up to around 10% of stroke patients experience stroke recurrence in the first year. We aimed to establish the risk of acute symptomatic seizures in patients with recurrent stroke. Methods: Retrospective cohort study including consecutive admissions to a Stroke Unit due to acute ischemic stroke, during a 5-year period. Additional inclusion of patients admitted to two centers in different countries to corroborate findings (confirmatory cohort). We aimed to compare acute symptomatic seizure incidence in patients with and without previous stroke. Patients with history of epilepsy were excluded. Logistic regression modeling was performed to identify predictors in middle cerebral artery (MCA) stroke. Results: We included 1473 patients (1085 with MCA stroke), of which 117 had a recurrent ischemic stroke (84 with MCA stroke). Patients with recurrent stroke had a seizure risk during hospital stay similar to that of patients with a first-ever stroke (5.1% vs. 4.5%, OR 1.15, 95% CI .48-2.71, p = .75). Risk of acute symptomatic seizures was also similar (5.0% vs. 4.1, OR 1.22, 95% CI .29-5.27, p = .78). Older age, female sex, and hemorrhagic transformation were predictors of seizures in patients with a first MCA ischemic stroke, but not in recurrent stroke patients. Electrographic characteristics were similar between the two groups in patients who had an electroencephalogram (46 with first stroke, 5 with recurrent stroke). The low rate of seizures (1.5%) in the confirmatory cohort (n = 198) precluded full comparison with the initial cohort. Nevertheless, the rate of seizures was not higher in stroke recurrence. Significance: History of previous stroke was not associated with an increased risk of acute symptomatic seizures during hospital stay. Larger, prospective studies, with prospective electrophysiological evaluation, are needed to explore the impact of stroke recurrence on seizure risk.
- Age-Dependent Phenotypic and Molecular Evolution of Pediatric MDS Arising from GATA2 DeficiencyPublication . Kotmayer, Lili; Kozyra, Emilia J; Kang, Guolian; Strahm, Brigitte; Yoshimi, Ayami; Sahoo, Sushree S; Pastor, Victor B; Attardi, Enrico; Voss, Rebecca; Vinci, Luca; Kaiser, Max; Dworzak, Michael N; De Moerloose, Barbara; Sukova, Martina; Starý, Jan; Hasle, Henrik; Jahnukainen, Kirsi; Polychronopoulou, Sophia; Kállay, Krisztián; Smith, Owen P; Malone, Andrea; Barzilai Birenboim, Shlomit; Masetti, Riccardo; Buechner, Jochen; Ussowicz, Marek; Kjöllerström, Paula; Bodova, Ivana; Kavcic, Marko; Català, Albert; Turkiewicz, Dominik; Schmugge, Markus; de Haas, Valerie; Okhomina, Victoria I; Sotomayor, Cristian; Catalán, Paula; Wehr, Claudia; Salzer, Ulrich; Germing, Ulrich; Gattermann, Norbert; Bödör, Csaba; Gray, Nathan; Lewis, Sara; Shimamura, Akiko; Giorgetti, Alessandra; Erlacher, Miriam; Niemeyer, Charlotte M; Wlodarski, Marcin WGATA2 deficiency is an autosomal dominant transcriptopathy disorder with high risk for myelodysplastic syndrome (MDS). To elucidate genotype-phenotype associations and identify new genetic risk factors for MDS, we analyzed 218 individuals with germline heterozygous GATA2 variants. We observed striking age-dependent incidence patterns in GATA2-related MDS (GATA2-MDS), with MDS being absent in infants, rare before age 6 years, and steeply increasing in older children. Among 108 distinct GATA2 variants (67 novel), null mutations conferred a 1.7-fold increased risk for MDS, had earlier MDS onset compared to other variants (12.2 vs. 14.6 years, p = 0.009) and were associated with lymphedema and deafness. In contrast, intron 4 variants exhibited reduced penetrance and lower risk for MDS development. Analysis of the somatic landscape revealed unique patterns of clonal hematopoiesis. SETBP1 mutations occurred exclusively in patients with monosomy 7 and their frequency decreased with age. Conversely, the frequency of STAG2 mutations and trisomy 8 increased with age and appeared protective against early development of advanced MDS. Overall, the majority (73.9%) of mutation-positive cases harbored monosomy 7, suggesting it serves as a major driver in malignant progression. Our findings provide evidence for age-appropriate surveillance, and a foundation for genotype-driven risk stratification in GATA2 deficiency.
- AI-Based Models to Predict Decompensation on Traumatic Brain Injury Patients.Publication . Ribeiro, Ricardo; Neves, Inês; Oliveira, Hélder P; Pereira, TaniaTraumatic Brain Injury (TBI) is a form of brain injury caused by external forces, resulting in temporary or permanent impairment of brain function. Despite advancements in healthcare, TBI mortality rates can reach 30%-40% in severe cases. This study aims to assist clinical decision-making and enhance patient care for TBI-related complications by employing Artificial Intelligence (AI) methods and data-driven approaches to predict decompensation. This study uses learning models based on sequential data from Electronic Health Records (EHR). Decompensation prediction was performed based on 24-h in-mortality prediction at each hour of the patient's stay in the Intensive Care Unit (ICU). A cohort of 2261 TBI patients was selected from the MIMIC-III dataset based on age and ICD-9 disease codes. Logistic Regressor (LR), Long-short term memory (LSTM), and Transformers architectures were used. Two sets of features were also explored combined with missing data strategies by imputing the normal value, data imbalance techniques with class weights, and oversampling. The best performance results were obtained using LSTMs with the original features with no unbalancing techniques and with the added features and class weight technique, with AUROC scores of 0.918 and 0.929, respectively. For this study, using EHR time series data with LSTM proved viable in predicting patient decompensation, providing a helpful indicator of the need for clinical interventions.
- Albumin-Bilirubin Grade and Tumor Burden Score Predict Outcomes Among Patients with Intrahepatic Cholangiocarcinoma After Hepatic Resection: a Multi-Institutional Analysis.Publication . Munir, Muhammad Musaab; Endo, Yutaka; Lima, Henrique A; Alaimo, Laura; Moazzam, Zorays; Shaikh, Chanza; Poultsides, George A; Guglielmi, Alfredo; Aldrighetti, Luca; Weiss, Matthew; Bauer, Todd W; Alexandrescu, Sorin; Kitago, Minoru; Maithel, Shishir K; Pinto Marques, Hugo; Martel, Guillaume; Pulitano, Carlo; Shen, Feng; Cauchy, François; Koerkamp, Bas Groot; Endo, Itaru; Pawlik, Timothy M; SpringerBackground: The prognostic role of tumor burden score (TBS) relative to albumin-bilirubin (ALBI) grade among patients undergoing curative-intent resection of ICC has not been examined. Methods: We identified patients who underwent curative-intent resection for ICC between 1990 and 2017 from a multi-institutional database. Multivariable analysis was performed to assess the effect of TBS relative to ALBI grade on both short- and long-term outcomes. Results: Among 724 patients, 360 (49.7%) patients had low TBS and low ALBI grade, 142 (19.6%) patients had low TBS and high ALBI grade, 138 (19.1%) patients had high TBS and low ALBI grade, and 84 patients (11.6%) had high TBS and high ALBI grade. Decreased tumor burden was associated with better long-term outcomes among patients with both low (5-year OS; low TBS vs. high TBS: 52.4% vs 21.4%; p < 0.001) and high ALBI grade (5-year OS; low TBS vs. high TBS: 40.7% vs 12.0%; p < 0.001). On multivariable analysis, higher ALBI grade was associated with greater odds of an extended hospital LOS (> 10 days) (OR 2.80, 95%CI 1.62-4.82; p < 0.001), perioperative transfusion (OR 2.04, 95%CI 1.25-3.36; p = 0.005), 90-day mortality (OR 2.56, 95%CI 1.12-5.81; p = 0.025), as well as a major complication (OR 1.99, 95%CI 1.13-3.49; p = 0.016) among patients with similar tumor burden. Of note, patients with high TBS and high ALBI grade had markedly worse overall survival compared with patients who had low TBS and low ALBI grade disease (HR 2.27; 95%CI 1.44-3.59; p < 0.001). Importantly, high TBS and high ALBI grade were strongly associated with both early recurrence (88.1%%) and 5-year risk of death (96.4%). Conclusion: Both TBS (i.e., tumor morphology) and ALBI grade (i.e., hepatic function reserve) were strong predictors of outcomes among patients undergoing ICC resection. There was an interplay between TBS and ALBI grade relative to patient prognosis after hepatic resection of ICC with high ALBI grade predicting worse outcomes among ICC patients with different TBS.
- Amyotrophic Lateral Sclerosis with SOD1 Mutation Presenting with Progressive Cerebellar Ataxia.Publication . Sequeira, Marta; Godinho, Filipe; Lourenço, JoãoAmyotrophic lateral sclerosis is a fatal neurodegenerative disorder that affects upper and lower motor neurons. SOD1 mutations are the second most commonly found in familial and sporadic cases. We describe a patient with a homozygous pathogenic mutation in SOD1 gene that presented with a progressive cerebellar ataxia and ultimately developed a complex phenotype of cerebellar ataxia and motor neuron disease. The linkage between the cerebellum and ALS is shortly discussed.