Phenylketonuria (PKU) is an autosomal recessive inborn error of phenylalanine metabolism caused by deficiency in the enzyme phenylalanine hydroxylase that converts phenylalanine into tyrosine.
In ...2017 the first European PKU Guidelines were published. These guidelines contained evidence based and/or expert opinion recommendations regarding diagnosis, treatment and care for patients with PKU of all ages. This manuscript is a supplement containing the practical application of the dietary treatment.
This handbook can support dietitians, nutritionists and physicians in starting, adjusting and maintaining dietary treatment.
Physical activity guidelines for adults with disability, chronic conditions, and pregnancy (i.e., specific populations) have been developed to provide guidance for engaging in physical activity. ...However, specific populations remain considerably less physically active compared to the general population, presenting a knowledge-practice gap.
The purpose of this systematic scoping review was to identify and evaluate strategies for disseminating and implementing physical activity guidelines among specific populations and/or stakeholders (e.g., healthcare professionals) in Canada.
Five search approaches (peer-reviewed literature databases, grey literature database, custom Google search engines, targeted web-based searches, and content expert consultation) identified records documenting and/or evaluating strategies that had been used to disseminate or implement guidelines from a predetermined list. Systematic and scoping review protocols were followed. Risk of bias assessments were conducted for all studies that evaluated strategies.
Eighty-one records reported dissemination strategies (n = 42), implementation strategies (n = 28), or both (n = 11). Twenty-two studies reporting on 29 evaluated strategies were deemed "serious" or "high" risk of bias. Common guideline dissemination and implementation strategies are deliberated and recommendations for future practice are made.
Findings may inform future dissemination and implementation efforts for physical activity guidelines in Canada or similar countries.
To date, no good marker for screening or disease monitoring of endometrial cancer (EC) is available. The aims of this study were to investigate HE4 gene, protein expression and serum HE4 (sHE4) ...levels in a panel of ECs and normal endometria (NEs) and to correlate sHE4 with patient clinicopathological characteristics and prognosis.
Using quantitative real-time PCR we tested 46 ECs and 20 NEs for HE4 gene expression. Protein expression was analysed by immunohistochemistry on tissue microarrays in 153 ECs and 33 NEs. Pre-operative serum samples from 138 EC and 76 NE patients were analysed with HE4-EIA assay. Association between sHE4 and patient clinicopathological characteristics or outcome was evaluated.
Protein and HE4 gene were significantly upregulated in EC tissues and sera, compared with controls. High sHE4 levels were significantly associated with worse EC clinical characteristics. By univariate survival analysis, high sHE4 levels significantly correlated with decreased overall survival, progression-free survival and disease-free survival, retaining their independent prognostic value on the poorly differentiated EC cohort.
We demonstrate, for the first time, that high sHE4 levels correlates with an aggressive EC phenotype and may constitute an independent prognostic factor for poorly differentiated-ECs. Determination of sHE4 could be clinically useful in identifying high-risk EC patients for a more aggressive adjuvant therapy.
Lichen sclerosus is a chronic relapsing inflammatory dermatosis with a predilection for anogenital skin in 85%-98% of cases and is more prevalent in women (3%) than in men (> 0.07%).
The purpose of ...this study was to investigate gender differences in clinical presentation and therapeutic response to treatment with platelet-rich plasma (PRP), an emerging innovative strategy for LS.
Forty-three male and 51 female patients affected by LS were evaluated. Each patient was subjected to PRP treatment (1 infiltration every 15 days, for 3 times).
The PRP procedure was well tolerated by all patients and an overall significant decrease in symptoms was reported 6 months after PRP infiltration. Reduction in pain and burning sensation was significant in both gender but more accentuated in women than in men, whereas reduction of itching was similar. On the contrary, dyspareunia evidenced sex-related difference since a significant diminution was observed only in male.
This study demonstrates that PRP based therapy may exert a relevant role in LS patient management due to its effect on Quality of Life (QoL) and sexual function in both gender. In addition, the study underlined gender-related differences in severity of symptoms and disease age onset.
Guinea pigs have historically been used as a food source and are also an important model for studying the human intestines. Fasting is the act of temporarily stopping the intake of food. This process ...can alter the microbiota of various animals. This study is the first to investigate the impact of fasting on the cecum microbiome of three guinea pig breeds. We investigated the impact of fasting on the microbiome population structure in the cecum of three guinea pig breeds. This was done by sequencing and analyzing the V4 hypervariable region of the 16S rRNA gene in bacterial communities found in cecum mucosa samples. To achieve this, we established two treatment groups (fasting and fed), for each of the three guinea pig breeds: Andina, Inti, and Peru. The study involved twenty-eight guinea pigs, which were divided into the following groups: Andina-fed (five), Andina-fasting (five), Inti-fed (four), Inti-fasting (five), Peru-fed (five), and Peru-fasting (four). The results indicated a significant difference in beta diversity between the treatment groups for the Peru breed (
-value = 0.049), but not for the treatment groups of the Andina and Inti breeds. The dominant phyla across all groups were Firmicutes and Bacteroidetes. We observed variations in the abundance of different taxa in the cecum microbiota when comparing the treatment groups for each breed. Additionally, there was a higher number of unique taxa observed in the fasting groups compared to the fed groups. We discovered that the genus
was the only one present in all fasting groups across all breeds. Despite the findings, the resilience of the gut microbiome was not challenged in all three breeds, which can lead to disruptive changes that may affect the overall maintenance of the cecum microbiome. Based on the observed differences in the treatment groups of the Peru breed, it can be suggested that fasting has a greater impact on this particular breed.
Abstract
Objectives To evaluate the relation between climacteric symptoms or other risk factors for cardiovascular disease and oxidative status of postmenopausal women.
Methods Cross-sectional ...investigation performed at the outpatient service for the menopause at the University Hospital, on 50 apparently healthy women in physiological postmenopause. The whole-blood free oxygen radical test (FORT), free oxygen radical defence (FORD), age, months since menopause, weight, body mass index, waist circumference, waist-to-hip ratio, estradiol, lipids, glucose, insulin, insulin resistance (glucose/insulin and HOMA-IR), and fibrinogen were evaluated. The Greene Climacteric Scale with its subscales was used to evaluate climacteric symptoms. The pulsatility index, an index of downstream blood flow resistance, was determined for both the internal carotid artery and the brachial artery.
Results The waist-to-hip ratio (r = 0.540; p = 0.0001), estradiol (r = 0.548; p = 0.0004) and waist circumference (r = 0.345; p = 0.02) were independently related to blood FORT. The score in the Greene vasomotor subscale was the only parameter independently related to blood FORD (r = 0.554; p = 0.0001). FORT was not related to the artery pulsatility index, while FORD was negatively related to the pulsatility index of both the internal carotid (r = 0.549; p = 0.0001) and the brachial (r = 0.484; p = 0.0001) arteries.
Discussion In postmenopausal women, abdominal adiposity and hypoestrogenism increase oxidative stress. Climacteric symptoms, particularly vasomotor symptoms, markedly reduce antioxidant defences. Lower antioxidant defences are associated with higher resistance to blood flow in the great arteries. In women early after the menopause, visceral fat, hypoestrogenism and climacteric symptoms may increase the risk for cardiovascular disease.
A subset of patients with phenylketonuria benefit from treatment with tetrahydrobiopterin (BH4), although there is no consensus on the definition of BH4 responsiveness. The aim of this study ...therefore was to gain insight into the definitions of long-term BH4 responsiveness being used around the world.
We performed a web-based survey targeting healthcare professionals involved in the treatment of PKU patients. Data were analysed according to geographical region (Europe, USA/Canada, other).
We analysed 166 responses. Long-term BH4 responsiveness was commonly defined using natural protein tolerance (95.6%), improvement of metabolic control (73.5%) and increase in quality of life (48.2%). When a specific value for a reduction in phenylalanine concentrations was reported (n = 89), 30% and 20% were most frequently used as cut-off values (76% and 19% of respondents, respectively). When a specific relative increase in natural protein tolerance was used to define long-term BH4 responsiveness (n = 71), respondents most commonly reported cut-off values of 30% and 100% (28% of respondents in both cases). Respondents from USA/Canada (n = 50) generally used less strict cut-off values compared to Europe (n = 96). Furthermore, respondents working within the same center answered differently.
The results of this study suggest a very heterogeneous situation on the topic of defining long-term BH4 responsiveness, not only at a worldwide level but also within centers. Developing a strong evidence- and consensus-based definition would improve the quality of BH4 treatment.
The determination of l-thyroxine is proposed based on the photoluminescence quenching effect caused on the l-cysteine modified ZnS quantum dots (l-cysteine ZnS QDs) aqueous dispersion. Under optimum ...conditions, the analytical response followed a Stern–Volmer model and the experimental conditions were adjusted to enable a robust and reproducible photoluminescence signal. The linear response observed in the quantum dots aqueous dispersion covered the l-thyroxine concentration from the LOQ (2.0×10−8molL−1) to 4.0×10−6molL−1. The approach was tested in the determination of l-thyroxine in pharmaceutical formulations used to treat patients with thyroid gland disorder. The percent recoveries in controlled samples were between 93.3 and 103%. Analyte fortified saliva was also evaluated as a possible sample for l-thyroxine monitoring of a patient under treatment. It was identified a static type of photoluminescence quenching caused by l-thyroxine.
•l-cysteine ZnS QDs were used as a photoluminescent probe to detect l-thyroxine.•Intensity of probe decreases following a Stern–Volmer model.•The method can detect down ngL−1 levels of l-thyroxine in the probe dispersion.•Method was used to determinate of l-thyroxine in saliva and in pharmaceuticals.•Mechanism of interaction between l-thyroxine and quantum dots was studied.
The aim of this paper is to introduce a new method for the solution of optimal control problems for which the system is composed by many subsystems whose dynamics are coupled through input–ouput ...connections. The proposed approach can be regarded as a generalization of the direct multiple shooting method and exploits the structure of the problem to achieve a highly parallelizable algorithm. To demonstrate its effectiveness, the new method is applied to the control of a hydro power plant composed of several connected reaches.
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