scholarly journals Urine Phenylacetylglutamine Determination in Patients with Hyperphenylalaninemia

2021 ◽  
Vol 10 (16) ◽  
pp. 3674
Author(s):  
Fernando Andrade ◽  
Ainara Cano ◽  
María Unceta Suarez ◽  
Arantza Arza ◽  
Ana Vinuesa ◽  
...  

Phenylketonuria (PKU), an autosomal-recessive inborn error of phenylalanine (Phe) metabolism is the most prevalent disorder of amino acid metabolism. Currently, clinical follow-up relies on frequent monitoring of Phe levels in blood. We hypothesize that the urine level of phenylacetylglutamine (PAG), a phenyl-group marker, could be used as a non-invasive biomarker. In this cross-sectional study, a validated liquid chromatography coupled to tandem mass spectrometry (LC-MS) method was used for urinary PAG quantification in 35 participants with hyperphenylalaninemia (HPA) and 33 age- and sex-matched healthy controls. We have found that (a) PKU patients present higher urine PAG levels than healthy control subjects, and that (b) there is a significant correlation between urine PAG and circulating Phe levels in patients with HPA. In addition, we show a significant strong correlation between Phe levels from venous blood samples and from capillary finger-prick dried blood spot (DBS) samples collected at the same time in patients with HPA. Further research in order to assess the potential role of urine PAG as a non-invasive biomarker in PKU is warranted.

2019 ◽  
Vol 40 (Supplement_1) ◽  
Author(s):  
A Caforio ◽  
S Gianstefani ◽  
A Baritussio ◽  
R Marcolongo ◽  
M Seguso ◽  
...  

Abstract Background Sarcoidosis is an immune-mediated disease; cardiac involvement, a granulomatous form of myocarditis, is under-recognised and prognostically relevant, as it can present with significant morbidity and mortality. Anti-heart autoantibodies (AHA) and anti-intercalated disk autoantibodies (AIDA) are reliable autoimmune markers in non-sarcoidosis myocarditis forms. Purpose The aim of this study was to assess the potential role of serum AHA and AIDA in cardiac sarcoidosis. Methods This is a cross-sectional study on a series of 29 patients with biopsy proven extra-cardiac sarcoidosis and with biopsy-proven or clinically suspected cardiac involvement, who were tested for AHA and AIDA. Patients were recruited in two recruiting tertiary centres, in USA and Italy. AHA and AIDA were detected by indirect immunofluorescence on human myocardium and skeletal muscle. Controls included sera from patients with non-inflammatory cardiac disease (NICD) (n=160), with ischemic heart failure (IHF) (n=141) and normal blood donors (NBD) (n=270). Results The frequencies of AHA and of AIDA were higher in sarcoidosis (86%; 62%) than in NICD (8%; 4%), IHF (7%; 2%), NBD (9%; 0%) (p=0.0001; p=0.0001 respectively). Sensitivity and specificity were: 86% and 92% for positive AHA and 62% and 98% for positive AIDA, respectively (see figure). Figure 1 Conclusions The detection of serum AHA and AIDA in biopsy-proven or clinically suspected cardiac sarcoidosis supports the involvement of heart-specific autoimmunity in the majority of our cases and may provide a novel non invasive diagnostic marker.


Author(s):  
Chiara Lorini ◽  
Laura Ricotta ◽  
Virginia Vettori ◽  
Marco Del Riccio ◽  
Massimiliano Alberto Biamonte ◽  
...  

In Western countries, one of the main barriers to entomophagy is repulsion toward insects. Few studies have investigated the factors that influence attitudes toward entomophagy. Therefore, we conducted a cross-sectional study involving a sample of 248 university students, focusing on disgust and other potential attributes that can influence insect consumption, including health literacy. We used a 17-item self-administered questionnaire. Consistent with the literature, two items were chosen as outcome variables to evaluate the predictors of the propensity to consume insects: “Have you ever eaten insects or insect-based products?” and “How disgusting do you find eating insects?” The data analysis shows that having already eaten insects is inversely associated with the level of disgust (OR: 0.1, p < 0.01); and it is positively associated with higher levels of health literacy (OR: 3.66, p > 0.01). Additionally, having some knowledge and information about entomophagy is inversely associated with a higher level of disgust (OR: 0.44, p = 0.03 and OR: 0.25, p = 0.03, respectively), while being female is positively associated with disgust (OR: 3.26, p < 0.01). Our results suggest the potential role of health literacy, in addition to other factors, in influencing the willingness to taste insects. However, further studies involving larger and non-convenience samples are needed to confirm our hypothesis.


2017 ◽  
Vol 42 (6) ◽  
pp. 656-658 ◽  
Author(s):  
D. Falcone ◽  
R. J. H. Richters ◽  
N. E. Uzunbajakava ◽  
P. E. J. van Erp ◽  
P. C. M. van de Kerkhof

Author(s):  
Ildefonso Sanchez-Cerrillo ◽  
Pedro Landete ◽  
Beatriz Aldave ◽  
Santiago Sanchez-Alonso ◽  
Ana Sanchez-Azofra ◽  
...  

The SARS-CoV-2 is responsible for the pandemic COVID-19 in infected individuals, who can either exhibit mild symptoms or progress towards a life-threatening acute respiratory distress syndrome (ARDS). It is known that exacerbated inflammation and dysregulated immune responses involving T and myeloid cells occur in COVID-19 patients with severe clinical progression. However, the differential contribution of specific subsets of dendritic cells and monocytes to ARDS is still poorly understood. In addition, the role of CD8+ T cells present in the lung of COVID-19 patients and relevant for viral control has not been characterized. With the aim to improve the knowledge in this area, we developed a cross-sectional study, in which we have studied the frequencies and activation profiles of dendritic cells and monocytes present in the blood of COVID-19 patients with different clinical severity in comparison with healthy control individuals. Furthermore, these subpopulations and their association with antiviral effector CD8+ T cell subsets were also characterized in lung infiltrates from critical COVID-19 patients. Collectively, our results suggest that inflammatory transitional and non-classical monocytes preferentially migrate from blood to lungs in patients with severe COVID-19. CD1c+ conventional dendritic cells also followed this pattern, whereas CD141+ conventional and CD123hi plasmacytoid dendritic cells were depleted from blood but were absent in the lungs. Thus, this study increases the knowledge on the pathogenesis of COVID-19 disease and could be useful for the design of therapeutic strategies to fight SARS-CoV-2 infection.


2013 ◽  
Vol 4 (2) ◽  
pp. 106
Author(s):  
Alaine Maria Da Costa ◽  
Gislane De Sousa Rodrigues ◽  
Tatiana Maria De Melo Guimarães Dos Santos

Resumo: Objetivou-se refletir e discutir sobre o papel potencial do enfermeiro no enfrentamento do problema da tuberculose junto ao Agente Comunitário de Saúde no Programa de Controle da Tuberculose. Trata-se de pesquisa descritiva, de abordagem quantitativa, com desenho de estudo transversal. A amostra constituiu-se de 121 Agentes Comunitários de Saúde (ACS) da Estratégia Saúde da Família (ESF) - zona urbana de Teresina. Evidenciou-se que 71,1% dos sujeitos admitiram procurar o enfermeiro da ESF em caso de dúvidas frente a casos suspeitos de tuberculose. Ao enfermeiro cabem intervenções pertinentes no controle da tuberculose tanto no âmbito político quanto operativo.Palavras-Chave: Enfermagem, Atenção Básica à Saúde, Tuberculose.The potential role of nurses in addressing the problem of tuberculosis with the Community Health Agent Program Control TuberculosisAbstract: The objective of this study was to reflect and discuss about the potential role of the nurses at the tuberculosis combat, helping the Community Health Agent at the Program of Tuberculosis Control. This is a descriptive study that uses a quantitative approach, with a cross-sectional study design. The group studied was formed of 121 Community Health Agents of The Family Health Strategy in the urban zone of Teresina. It was observed that 71.1% of the agents admitted to need help of a nurse when they have doubts related to suspected cases of tuberculosis. Relevant interventions in tuberculosis control are responsibility of the nurses at a political and an operational scope.Keywords: Nursing, Basic Attention Health, Tuberculosis.El papel potencial de las enfermeras para resolver el problema de la tuberculosis con el control de la Salud de la Comunidad del Agente de Program Tuberculosis.Resumen: Se objetivó con este estudio reflexionar y debatir sobre el papel potencial de los enfermeros en la lucha contra la tuberculosis, junto a los agentes comunitarios de salud en el Programa de Control de la Tuberculosis. Este es un estudio descriptivo que utiliza un abordaje cuantitativo, con un diseño de estudio transversal. El grupo estudiado poseía 121 ACS de la Estrategia Salud de la Familia - zona urbana de Teresina. Se observó que 71,1% de los agentes admiten buscar a un enfermero cuando existen dudas en relación a los casos sospechosos de tuberculosis. Al enfermero, caben las intervenciones pertinentes en el control de la tuberculosis tanto en el alcance político como operacionalPalabras Clave: Enfermería, Atención Básica a la Salud, Tuberculosis.


2018 ◽  
Vol 2018 ◽  
pp. 1-7 ◽  
Author(s):  
Andreas Waldner ◽  
Sarah Dassati ◽  
Bernhard Redl ◽  
Nicola Smania ◽  
Marialuisa Gandolfi

Apolipoprotein D (ApoD), a lipocalin transporter of small hydrophobic molecules, plays an important role in several neurodegenerative diseases. ApoD is expressed in and secreted from a variety of peripheral and brain tissues. Increments of ApoD have been reported in relation with oxidative stress conditions, aging, and degeneration in the nervous system. Preliminary findings support the role of ApoD in neuroprotection. However, its role in PD remains unclear. To date, no studies have been performed on the relationship between ApoD in the blood and PD, as neurodegenerative pathology related to oxidative damage. We investigated the concentration of ApoD in the blood of healthy control subjects and PD patients with mild-to-moderate neurological impairment. ApoD plasma levels were measured using sandwich enzyme-linked immunosorbent assays (ELISA) in 90 healthy subjects (aging-analysis cohort) and in 66 PD patients at different stages compared with 19 age-matched healthy subjects. Significant age-related increase of ApoD was detected in subjects older than 65 years of age (p<0.002). In PD patients, a significant increase in ApoD plasma concentration was found compared with healthy subjects of the same age (p<0.05). ApoD and PD stage are significantly correlated (p<0.05). ApoD might be a valid marker for the progression of PD.


1970 ◽  
Vol 22 (1) ◽  
pp. 1-5
Author(s):  
Saima Kumar ◽  
Osul Ahmed Chowdhury ◽  
Md Murshed ◽  
Rabiul Hasan

A cross sectional study was done to find out the role of gestational age and nutrition on transplacental tranfer of measles antibody. The study was made on pregnant women admitted for delivery from July 2008 to June 2009 in Sylhet M A G Osmani Medical College Hospitals. Sample of venous blood of 94 pregnant mother and 94 cord blood of their newborn babies were collected and processed as per work schedule. Samples were tested by quantitative ELISA method for measles antibody. It was observed that baby of full term mother and good nutrition had higher antibody levels. Protein and haemoglobin level was taken as nutritional indicator. Keywords: Measles IgG; Transplacental transfer; Nutrition; Gestational age. DOI: 10.3329/medtoday.v22i1.5596 Medicine Today Vol.22(1) 2010. 1-5


2020 ◽  
Vol 10 (1) ◽  
pp. 91-101
Author(s):  
Cynthia Eka Fayuning Tjomiadi

AbstrakLATAR BELAKANG: Tingginya kejadian ulkus kaki diabetik di dunia terutama di Indonesia membawa pertanyaan besar, apa faktor yang menyebabkan fenomena tersebut. Hasil penelitian terbaru menunjukan adanya peranan persepsi terhadap penyakit dapat memoengaruhi signifikansi kejadian ulkus kaki diabetik.TUJUAN: Penelitian ini bertujuan untuk mendeskripsikan bagaimana persepsi penyakit terhadap ulkuk kaki diabetik di Banjarmasin, Kalimantan Selatan, Indonesia.METODE: Studi deskriptif dengan metode cross-sectional dilakukan di poliklinik kaki diabetik Rumah Sakit Umum Daerah Ulin Banjarmasin. Persepsi penyakit diukur dengan menggunakan Brief Illness Perceptions Questionnaire (BIPQ).HASIL: Domain dari perspsi penyakit telah berhasil dideskripsikan. Ulkus kaki diabetik dianggap sebagai penyakit kronis yang akan memberikan dampak besar terhadap kehidupan sehari-hari dan sulit di identifikasi. Kurangnya pemahaman tentang ulkus kaki diabetik juga ditemukan dari hasil penelitian iniKata Kunci: Ulkus Kaki Diabetik, Persepsi Penyakit Perception of Patient's Disease with Diabetic Foot UlcersIn Banjarmasin, South Kalimantan, IndonesiaAbstractBACKGROUND The urgency of the high incidence of Diabetic Foot Ulcer (DFU) around the world especially in Indonesia bring a big question, what are the factor that causes this phenomenon. Evidence from the recent research showed the role of illness perception and its significance on DFU.OBJECTIVE This study aims to describe what are the illness perceptions of patients with DFU in Banjarmasin, South Borneo, Indonesia.METHODS A descriptive cross-sectional study design was used. The DFU patients who required routine follow up in podiatry outpatient department of Ulin General Hospital in Banjarmasin were recruited. The illness perceptions were measured by using Brief Illness Perceptions Questionnaire (BIPQ).RESULTS The mean of the illness perceptions domain has been described. DFU considered as chronic disease which bring a major impact on daily life, difficult to identify. The lack of understanding on DFU also has been endorsed by the participants in this study. Keywords: Diabetic Foot Ulcer, Perception of Disease


2016 ◽  
Vol 74 (9) ◽  
pp. 697-700 ◽  
Author(s):  
Sergio Semeraro Jordy ◽  
Alberto Starzewski Junior ◽  
Felipe André Basso Macedo ◽  
Gabriela Reginatto Manica ◽  
Charles Peter Tilbery ◽  
...  

ABSTRACT This cross-sectional study involves 100 multiple sclerosis (MS) and 100 non-MS patients, under the age of 60 years old, with nasal obstruction, traumatic brain injury, previous rhinoplasty or neurosurgery, and so forth. Objective To assess olfactory function using the Connecticut test and verify correlations between olfactory alteration, disease duration and the Expanded Disability Status Scale (EDSS). Methods One hundred MS patients and 100 healthy control patients responded to a questionnaire. Those with olfactory alteration underwent a facial CT to exclude other causes. Results Thirty-two percent of patients showed alterations, compared with 3% in the healthy control group. Patients having EDSS above 4, showed a 5.2-times increased risk of dysfunction. Patients over 38 years of age have a 2.2-times increased risk over younger patients. Conclusions Because MS patients are likely to experience olfactory alterations, this study is a useful tool in follow-up care, although more studies are necessary to evaluate the correlations in MS evolution.


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