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Article ; Online: Nursing science's crucial role in addressing social and structural determinants of health.

P Santos, Hudson

2023 Volume 71, Issue 6, Page(s) 102087

MeSH term(s)	Humans ; Social Determinants of Health ; Science
Language	English
Publishing date	2023-11-17
Publishing country	United States
Document type	Editorial
ZDB-ID	300568-9
ISSN	1528-3968 ; 0029-6554
ISSN (online)	1528-3968
ISSN	0029-6554
DOI	10.1016/j.outlook.2023.102087
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Article ; Online: Perioperative anesthetic management of very long-chain acyl-coenzyme a dehydrogenase deficiency.

Peixoto, C / Dourado, C / Santos, H / Roberto, P

Revista espanola de anestesiologia y reanimacion

2023 Volume 70, Issue 4, Page(s) 231–234

Abstract: Very long-chain acyl-coenzyme A dehydrogenase deficiency is a rare disorder of β-oxidation fatty acid metabolism that results in susceptibility to hypoglycemia, liver failure, cardiomyopathy and rhabdomyolysis during catabolic situations. We report the ... ...

Abstract	Very long-chain acyl-coenzyme A dehydrogenase deficiency is a rare disorder of β-oxidation fatty acid metabolism that results in susceptibility to hypoglycemia, liver failure, cardiomyopathy and rhabdomyolysis during catabolic situations. We report the case of a 10-year-old male undergoing a totally implanted central venous catheter placement during hospitalisation for rhabdomyolysis, who was successfully managed with general anesthesia with nitrous oxide, sevoflurane and remifentanil. No hypoglycemia occurred and creatine kinase levels did not increase in the perioperative period. We describe the challenges encountered and the strategies used to avoid further decompensation of the disease due to surgical stress.
MeSH term(s)	Male ; Humans ; Child ; Muscular Diseases ; Mitochondrial Diseases ; Anesthetics ; Rhabdomyolysis/etiology
Chemical Substances	Anesthetics
Language	English
Publishing date	2023-02-25
Publishing country	Spain
Document type	Case Reports
ISSN	2341-1929
ISSN (online)	2341-1929
DOI	10.1016/j.redare.2021.12.005
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Article ; Online: Cardiovascular and Cerebrovascular Response to RedBull® Energy Drink Intake in Young Adults.

Costa, Rita / Rocha, Clara / Santos, Helder

Anatolian journal of cardiology

2023 Volume 27, Issue 1, Page(s) 19–25

Abstract: Background: Energy drinks contain caffeine, taurine, sucrose, vitamins, and other amino acids. The dosage of these varies depending on the drink chosen. Several studies on energy drinks have been carried out, but the results obtained are still ... ...

Abstract	Background: Energy drinks contain caffeine, taurine, sucrose, vitamins, and other amino acids. The dosage of these varies depending on the drink chosen. Several studies on energy drinks have been carried out, but the results obtained are still inconsistent as well as the risk associated with consumption. This study analyzed the cardio- and cerebrovascular responses after consumption of an energy drink - RedBull® - under standardized pre- and post-ingestion conditions and its impact on the cardiovascular and cerebrovascular system. Methods: A sample of 30 healthy young adult females was recruited and subjected to 3 moments of evaluation: at baseline, 30 minutes after ingesting the energy drink, and 60 minutes after ingesting it according to a non-randomized pre-post intervention study design. Results: It is found that over time there are significant changes in peak systolic velocity (P =.006) and endodiastolic velocity (P <.001) of common carotid artery, peak systolic velocity (P =.007), and endodiastolic velocity (P <.001) of internal carotid artery, peak systolic velocity (P =.004), end endodiastolic velocity (P =.013) of the external carotid artery, endodiastolic velocity (P =.042) of the middle cerebral artery, cardiac output (P =.004), and heart rate (P <.001). Conclusions: After the consumption of Redbull®, there was a decrease in the velocities of the carotid arteries and the middle cerebral artery as well as a decrease in cardiac output accompanied by a decrease in heart rate and a slight, although not significant, increase in systolic and diastolic blood pressures. However, it is still unclear which pathophysiological mechanisms are responsible for these changes.
MeSH term(s)	Female ; Humans ; Young Adult ; Energy Drinks ; Cardiovascular System ; Blood Pressure ; Caffeine ; Heart Rate ; Blood Flow Velocity/physiology
Chemical Substances	Caffeine (3G6A5W338E)
Language	English
Publishing date	2023-01-20
Publishing country	Turkey
Document type	Clinical Trial ; Journal Article
ZDB-ID	2278670-3
ISSN	2149-2271 ; 2149-2271
ISSN (online)	2149-2271
ISSN	2149-2271
DOI	10.14744/AnatolJCardiol.2022.2315
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Article ; Online: Effects of caffeine on cerebral blood flow.

Gaspar, Catarina / Rocha, Clara / Balteiro, Jorge / Santos, Helder

Nutrition (Burbank, Los Angeles County, Calif.)

2023 Volume 117, Page(s) 112217

Abstract: Objective: The objective of the present study is to evaluate whether, after caffeine ingestion, there are variations in blood velocity of the middle cerebral arteries in clinically healthy young people as well as to evaluate whether this variation is ... ...

Abstract	Objective: The objective of the present study is to evaluate whether, after caffeine ingestion, there are variations in blood velocity of the middle cerebral arteries in clinically healthy young people as well as to evaluate whether this variation is dependent on the administered dose. Methods: We used transcranial Doppler ultrasonography to record blood velocities of the middle cerebral arteries in three groups of 15 clinically healthy young adults each: no caffeine, a45 mg, and 120 mg of caffeine groups. Transcranial Doppler ultrasonography provided simultaneous bilateral velocity of the middle cerebral arteries measurements while participants performed functional tests (hyperventilation and hypoventilation orders) and three cognitive activities (test 1, short-term memory; test 2, solving a vocabulary problem; and test 3, solving a math problem) each in 31-s tests with 1-min rests between them. Participants were assessed before and 30 min after caffeine ingestion. Results: There was a significant decrease in mean velocity, peak systolic velocity, end-diastolic velocity, and heart rate after high caffeine intake, except in hyperventilation, which was only observed in peak systolic velocity. With the intake of a lower dose, significant decreases were seen with hypoventilation and with test 1. In hyperventilation, there was only a significant decrease in end-diastolic velocity and heart rate; in test 2, it was found in mean velocity and peak systolic velocity; and in test 3, only in heart rate. Conclusion: With this study, we conclude that caffeine influences the cardiovascular system acutely, interfering with the velocity of the middle cerebral arteries, causing its decrease. We also conclude that this acute effect causes vasodilation of the cerebral arteries, more accentuated with higher doses of caffeine.
MeSH term(s)	Young Adult ; Humans ; Adolescent ; Caffeine/pharmacology ; Hyperventilation ; Hypoventilation ; Middle Cerebral Artery/diagnostic imaging ; Middle Cerebral Artery/physiology ; Cerebrovascular Circulation/physiology ; Blood Flow Velocity/physiology
Chemical Substances	Caffeine (3G6A5W338E)
Language	English
Publishing date	2023-09-06
Publishing country	United States
Document type	Journal Article
ZDB-ID	639259-3
ISSN	1873-1244 ; 0899-9007
ISSN (online)	1873-1244
ISSN	0899-9007
DOI	10.1016/j.nut.2023.112217
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Article ; Online: The Association Between Lifestyle Factors and COVID-19 Among Older Adults in Southern California: The Loma Linda Longevity Study.

Alabadi-Bierman, Alaa / Spencer-Hwang, Rhonda / Beeson, W Lawrence / Paalani, Michael / Dos Santos, Hildemar

Journal of applied gerontology : the official journal of the Southern Gerontological Society

2024 , Page(s) 7334648241242687

Abstract: Amid a global aging trend, particularly notable in the U.S., there is a growing focus on achieving enhanced longevity and well-being. We evaluated the association between lifestyle factors (sleep, diet, and healthy lifestyle index) and COVID-19 infection ...

Abstract	Amid a global aging trend, particularly notable in the U.S., there is a growing focus on achieving enhanced longevity and well-being. We evaluated the association between lifestyle factors (sleep, diet, and healthy lifestyle index) and COVID-19 infection in an older adult population in San Bernardino and Riverside counties in Southern California, the United States. A sample of 380 older adults ≥75 years old were surveyed cross-sectionally and self-reported lifestyle behaviors and COVID-19 infection. The results revealed that half the participants reported COVID-19 infection. Participants who slept less than 7 hours or more than 8 hours/night had higher odds of COVID-19 infection than those who slept 7-8 hours/night (OR = 1.62, 95% CI: 1.03, 2.55). Healthy lifestyle behaviors were significantly associated with reduced COVID-19 infection (OR = 0.61, 95% CI: 0.40, 0.92). In conclusion, adequate sleep and healthy lifestyle behaviors may be protective against COVID-19 infection among older adults and should be investigated further.
Language	English
Publishing date	2024-03-31
Publishing country	United States
Document type	Journal Article
ZDB-ID	155897-3
ISSN	1552-4523 ; 0733-4648
ISSN (online)	1552-4523
ISSN	0733-4648
DOI	10.1177/07334648241242687
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Article ; Online: Molybdenum Cofactor Deficiency in the Neonate: Expanding the Phenotype.

Hierro, Fátima / Tomé, Maria Luís / Grenha, Joana / Santos, Helena / Santos, Fátima / Nunes, Joana

Pediatric neurology

2024 Volume 153, Page(s) 113–115

MeSH term(s)	Infant, Newborn ; Humans ; Phenotype ; Metal Metabolism, Inborn Errors/complications ; Metal Metabolism, Inborn Errors/diagnosis ; Metal Metabolism, Inborn Errors/genetics
Language	English
Publishing date	2024-02-01
Publishing country	United States
Document type	Journal Article
ZDB-ID	639164-3
ISSN	1873-5150 ; 0887-8994
ISSN (online)	1873-5150
ISSN	0887-8994
DOI	10.1016/j.pediatrneurol.2024.01.020
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Article ; Online: Evaluating Methods for Mapping Historical Redlining to Census Tracts for Health Equity Research.

De Los Santos, Hannah / Bezold, Carla P / Jiang, Karen M / Chen, Jarvis T / Okechukwu, Cassandra A

Journal of urban health : bulletin of the New York Academy of Medicine

2024 Volume 101, Issue 2, Page(s) 392–401

Abstract: Neighborhood characteristics including housing status can profoundly influence health. Recently, increasing attention has been paid to present-day impacts of "redlining," or historic area classifications that indicated less desirable (redlined) areas ... ...

Abstract	Neighborhood characteristics including housing status can profoundly influence health. Recently, increasing attention has been paid to present-day impacts of "redlining," or historic area classifications that indicated less desirable (redlined) areas subject to decreased investment. Scholarship of redlining and health is emerging; limited guidance exists regarding optimal approaches to measuring historic redlining in studies of present-day health outcomes. We evaluated how different redlining approaches (map alignment methods) influence associations between redlining and health outcomes. We first identified 11 existing redlining map alignment methods and their 37 logical extensions, then merged these 48 map alignment methods with census tract life expectancy data to construct 9696 linear models of each method and life expectancy for all 202 redlined cities. We evaluated each model's statistical significance and R
MeSH term(s)	Humans ; Health Equity ; Censuses ; Neighborhood Characteristics ; Life Expectancy ; Geographic Mapping ; Residence Characteristics ; Housing
Language	English
Publishing date	2024-03-22
Publishing country	United States
Document type	Journal Article ; Research Support, N.I.H., Extramural ; Research Support, Non-U.S. Gov't
ZDB-ID	1435288-6
ISSN	1468-2869 ; 1099-3460
ISSN (online)	1468-2869
ISSN	1099-3460
DOI	10.1007/s11524-024-00841-3
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Article ; Online: A noise audit of human-labeled benchmarks for machine commonsense reasoning.

Kejriwal, Mayank / Santos, Henrique / Shen, Ke / Mulvehill, Alice M / McGuinness, Deborah L

Scientific reports

2024 Volume 14, Issue 1, Page(s) 8609

Abstract: With the advent of large language models, evaluating and benchmarking these systems on important AI problems has taken on newfound importance. Such benchmarking typically involves comparing the predictions of a system against human labels (or a single ' ... ...

Abstract	With the advent of large language models, evaluating and benchmarking these systems on important AI problems has taken on newfound importance. Such benchmarking typically involves comparing the predictions of a system against human labels (or a single 'ground-truth'). However, much recent work in psychology has suggested that most tasks involving significant human judgment can have non-trivial degrees of noise. In his book, Kahneman suggests that noise may be a much more significant component of inaccuracy compared to bias, which has been studied more extensively in the AI community. This article proposes a detailed noise audit of human-labeled benchmarks in machine commonsense reasoning, an important current area of AI research. We conduct noise audits under two important experimental conditions: one in a smaller-scale but higher-quality labeling setting, and another in a larger-scale, more realistic online crowdsourced setting. Using Kahneman's framework of noise, our results consistently show non-trivial amounts of level, pattern, and system noise, even in the higher-quality setting, with comparable results in the crowdsourced setting. We find that noise can significantly influence the performance estimates that we obtain of commonsense reasoning systems, even if the 'system' is a human; in some cases, by almost 10 percent. Labeling noise also affects performance estimates of systems like ChatGPT by more than 4 percent. Our results suggest that the default practice in the AI community of assuming and using a 'single' ground-truth, even on problems requiring seemingly straightforward human judgment, may warrant empirical and methodological re-visiting.
MeSH term(s)	Humans ; Benchmarking ; Problem Solving ; Judgment ; Books ; Language
Language	English
Publishing date	2024-04-14
Publishing country	England
Document type	Journal Article
ZDB-ID	2615211-3
ISSN	2045-2322 ; 2045-2322
ISSN (online)	2045-2322
ISSN	2045-2322
DOI	10.1038/s41598-024-58937-4
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Article ; Online: Impact of copy number variants in epilepsy plus neurodevelopment disorders.

João, Sofia / Quental, Rita / Pinto, Joel / Almeida, Carolina / Santos, Helena / Dória, Sofia

Seizure

2024 Volume 117, Page(s) 6–12

Abstract: Introduction: Epilepsy, a neurological disorder characterized by recurring unprovoked seizures due to excessive neuronal excitability, is primarily attributed to genetic factors, accounting for an estimated 70 % of cases. Array-comparative genomic ... ...

Abstract	Introduction: Epilepsy, a neurological disorder characterized by recurring unprovoked seizures due to excessive neuronal excitability, is primarily attributed to genetic factors, accounting for an estimated 70 % of cases. Array-comparative genomic hybridization (aCGH) is a crucial genetic test for detecting copy number variants (CNVs) associated with epilepsy. This study aimed to analyze a cohort of epilepsy patients with CNVs detected through aCGH to enhance our understanding of the genetic underpinnings of epilepsy. Methods: A retrospective cross-sectional study was conducted using the aCGH database from the Genetics Department of the Faculty of Medicine of the University of Porto, encompassing 146 patients diagnosed with epilepsy, epileptic encephalopathy, or seizures. Clinical data were collected, and aCGH was performed following established guidelines. CNVs were classified based on ACMG standards, and patients were categorized into four groups according to their clinical phenotype. Results: Among the 146 included patients, 94 (64 %) had at least one CNV, with 22 (15.1 %) classified as pathogenic or likely pathogenic. Chromosomes 1, 2, 16, and X were frequently implicated, with Xp22.33 being the most reported region (8 CNVs). The phenotype "Epilepsy and global developmental delay/intellectual disability" showed the highest prevalence of clinically relevant CNVs. Various CNVs were identified across different groups, suggesting potential roles in epilepsy. Conclusions: This study highlights the significance of aCGH in unraveling the genetic basis of epilepsy and tailoring treatment strategies. It contributes valuable insights to the expanding knowledge in the field, emphasizing the need for research to elucidate the diverse genetic causes of epilepsy.
MeSH term(s)	Humans ; DNA Copy Number Variations/genetics ; Epilepsy/genetics ; Male ; Female ; Retrospective Studies ; Cross-Sectional Studies ; Child ; Neurodevelopmental Disorders/genetics ; Child, Preschool ; Adolescent ; Comparative Genomic Hybridization ; Adult ; Young Adult ; Infant
Language	English
Publishing date	2024-01-19
Publishing country	England
Document type	Journal Article
ZDB-ID	1137610-7
ISSN	1532-2688 ; 1059-1311
ISSN (online)	1532-2688
ISSN	1059-1311
DOI	10.1016/j.seizure.2024.01.009
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Zs.A 3573: Show issues

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Article ; Online: Copy number variations on chromosome 2: impact on human phenotype, a cross-sectional study.

Sousa, Beatriz / Grangeia, Ana / Pinto, Joel / Santos, Helena / Dória, Sofia

Porto biomedical journal

2023 Volume 8, Issue 1, Page(s) e198

Abstract: Background: Copy number variations (CNVs) on chromosome 2 are associated with a variety of human diseases particularly neurodevelopmental disorders. Array comparative genomic hybridization (aCGH) constitutes an added value for the diagnosis of ... ...

Abstract	Background: Copy number variations (CNVs) on chromosome 2 are associated with a variety of human diseases particularly neurodevelopmental disorders. Array comparative genomic hybridization (aCGH) constitutes an added value for the diagnosis of neurodevelopmental or neuropsychiatric diseases. This study aims to establish a genotype-phenotype correlation, reporting CNVs on the chromosome 2, contributing for a better characterization of the molecular significance of rare CNVs in this chromosome. Methods: To accomplish this, a cross-sectional study was performed using genetic information included in a database of the Department of Genetics of the Faculty of Medicine and clinical data from Hospital database. CNVs were classified as pathogenic, benign, variants of unknown significance, and likely pathogenic or likely benign, in accordance with the ACMG Standards and Guidelines. Results: A total of 2897 patients were studied using aCGH, 32 with CNVs on chromosome 2, 24 classified as likely pathogenic, and 8 as pathogenic. Genomic intervals with a higher incidence were one 2p25.3 and 2q13 regions. Conclusions: This study will help to establish new genotype-phenotype correlations, allowing update of databases and literature and the improvement of diagnosis and genetic counseling which could be an added value for prenatal genetic counseling.
Language	English
Publishing date	2023-02-07
Publishing country	United States
Document type	Journal Article
ISSN	2444-8672
ISSN (online)	2444-8672
DOI	10.1097/j.pbj.0000000000000198
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