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1.
Actas Esp Psiquiatr ; 52(3): 347-364, 2024 Jun.
Article in English | MEDLINE | ID: mdl-38863047

ABSTRACT

BACKGROUND: The number of individuals diagnosed with Alzheimer's disease (AD) has increased, and it is estimated to continue rising in the coming years. The diagnosis of this disease is challenging due to variations in onset and course, its diverse clinical manifestations, and the indications for measuring deposit biomarkers. Hence, there is a need to develop more precise and less invasive diagnostic tools. Multiple studies have considered using electroencephalography (EEG) entropy measures as an indicator of the onset and course of AD. Entropy is deemed suitable as a potential indicator based on the discovery that variations in its complexity can be associated with specific pathologies such as AD. METHODOLOGY: Following PRISMA guidelines, a literature search was conducted in 4 scientific databases, and 40 articles were analyzed after discarding and filtering. RESULTS: There is a diversity in entropy measures; however, Sample Entropy (SampEn) and Multiscale Entropy (MSE) are the most widely used (21/40). In general, it is found that when comparing patients with controls, patients exhibit lower entropy (20/40) in various areas. Findings of correlation with the level of cognitive decline are less consistent, and with neuropsychiatric symptoms (2/40) or treatment response less explored (2/40), although most studies show lower entropy with greater severity. Machine learning-based studies show good discrimination capacity. CONCLUSIONS: There is significant difficulty in comparing multiple studies due to their heterogeneity; however, changes in Multiscale Entropy (MSE) scales or a decrease in entropy levels are considered useful for determining the presence of AD and measuring its severity.


Subject(s)
Alzheimer Disease , Electroencephalography , Entropy , Alzheimer Disease/diagnosis , Alzheimer Disease/physiopathology , Humans , Electroencephalography/methods
3.
J Cutan Pathol ; 2024 May 20.
Article in English | MEDLINE | ID: mdl-38769716

ABSTRACT

Mycosis fungoides (MF) has been widely reported to mimick a considerable number of different dermatoses, including scarring alopecia, bullous dermatoses or cysts, and comedones. In atypical presentations, histopathology is essential for the diagnosis. We present two cases of MF with clinical urticarial lesions and a striking blood involvement that responded to mogamulizumab treatment. Histopathologically, both cases had classic MF features and shared a peculiar immunophenotype, with positivity for CD25 and FOXP3. Differential diagnoses included urticarial lymphomatoid drug reactions and other lymphomas, like T-cell prolymphocytic leukemia, atypical Sézary syndrome, or adult T-cell lymphocytic leukemia. A low suspicion threshold is necessary for the diagnosis of atypical presentations of MF.

4.
Bioresour Technol ; 400: 130675, 2024 May.
Article in English | MEDLINE | ID: mdl-38608786

ABSTRACT

In this article we can observe the scanning by the literature for the pretreatment of steam explosion applied to lignocellulose biomass. A comparison of the chemical and physical characterization of potato peel as a lignocellulose biomass. Besides, the innovative design of a continuous reactor for the potato peel steam explosion process is shown, with specific temperature and pressure conditions on a pilot scale, detailing its parts. Finally, a finite element analysis was performed where stress results were obtained from the reactor material, severity factor, structural analysis and thermal analysis, providing a panorama of the reactor's behavior with the conditions specific.


Subject(s)
Solanum tuberosum , Steam , Solanum tuberosum/chemistry , Lignin/chemistry , Equipment Design , Temperature , Biomass , Finite Element Analysis , Pressure , Biotechnology/methods , Bioreactors
5.
Physiol Behav ; 278: 114522, 2024 May 01.
Article in English | MEDLINE | ID: mdl-38492909

ABSTRACT

BACKGROUNDS: Sleep restriction is considered a stressful condition itself, causing a wide variety of physiological alterations, from cognitive and hormonal to immunological status. In addition, it is established that stress in mother rats can modify milk ejection, milk composition, and maternal care of the pups. Also, sleep disturbances during the early stages of motherhood are a common feature of all studied species. In this context, while the impacts of sleep disruption in non-lactating animals were extensively investigated, its repercussions during the initial phases of motherhood have been poorly explored. Therefore, we wonder if maternal behavior, milk ejection and its macronutrient composition would be disrupted when mother rats are subjected to an additional acute or chronic sleep restriction to the already existing sleep disturbances. METHODS: Lactating rats were implanted with unilateral electrodes for polysomnographic recordings and for deep brain electrical stimulation into mesopontine waking-promoting area (for sleep deprivation). During the early postpartum period (postpartum day 5-9), mother rats were randomly assigned into one of three groups: chronic sleep restriction group (CSR; 6 h of sleep deprivation/day for five consecutive days), acute sleep restriction group (ASR; 6 h of sleep deprivation only for one day), or undisturbed group (control group). Active maternal behaviors (retrievals of the pups into the nest, mouthing, lickings [corporal and anogenital] and sniffing the pups) and passive maternal behaviors (kyphotic and supine nursing postures) were evaluated during a 30 min period without sleep restriction immediately after the sleep restriction or control period. The litter weight gain was assessed every day, and on the last experimental session mothers were milked for posterior macronutrients analysis (protein, carbohydrates and fat). RESULTS: When compared to control group, CSR decreased the amount of milk ejected in the middle days of the sleep restriction period, while ASR did not affect this parameter. Moreover, ASR reduced milk protein content compared to control and CSR groups. Finally, compared to the control group, CSR reduced active maternal behaviors towards the end of the treatment days. CONCLUSIONS: We demonstrated that not only acute but also chronic sleep restriction impacts on the postpartum period, each one affecting different aspects of maternal behavior and lactation. Our results suggest the existence of a homeostatic recovery mechanism in breastfeeding during CSR, possibly ensuring the survival of the litter, while the decline in active maternal behaviors appears to be cumulative.


Subject(s)
Lactation , Sleep Deprivation , Female , Humans , Rats , Animals , Lactation/physiology , Sleep/physiology , Postpartum Period , Maternal Behavior/physiology , Nutrients
6.
Am J Dermatopathol ; 46(5): 271-286, 2024 May 01.
Article in English | MEDLINE | ID: mdl-38457673

ABSTRACT

ABSTRACT: Perineural infiltration refers to a neoplastic cell involvement in, around, and through the nerves. It is considered as one of the neoplastic dissemination pathways. Thus, its identification is crucial to establish the prognosis of some malignant skin neoplasms, such as squamous cell carcinoma, and explains the locally aggressive behavior of cutaneous neoplasms, such as microcystic adnexal carcinoma. We have conducted a review of malignant and benign skin tumors in which perineural infiltration has been described, and we also discuss some histopathological findings that may simulate perineural infiltration.


Subject(s)
Carcinoma, Squamous Cell , Neoplasms, Adnexal and Skin Appendage , Skin Neoplasms , Humans , Prognosis , Skin Neoplasms/diagnosis , Skin Neoplasms/therapy , Skin Neoplasms/pathology , Carcinoma, Squamous Cell/diagnosis , Carcinoma, Squamous Cell/therapy , Carcinoma, Squamous Cell/pathology
7.
PLoS One ; 19(2): e0298354, 2024.
Article in English | MEDLINE | ID: mdl-38363753

ABSTRACT

The pulse arrival time (PAT) has been considered a surrogate measure for pulse wave velocity (PWV), although some studies have noted that this parameter is not accurate enough. Moreover, the inter-beat interval (IBI) time series obtained from successive pulse wave arrivals can be employed as a surrogate measure of the RR time series avoiding the use of electrocardiogram (ECG) signals. Pulse arrival detection is a procedure needed for both PAT and IBI measurements and depends on the proper fiducial points chosen. In this paper, a new set of fiducial points that can be tailored using several optimization criteria is proposed to improve the detection of successive pulse arrivals. This set is based on the location of local maxima and minima in the systolic rise of the pulse wave after fractional differintegration of the signal. Several optimization criteria have been proposed and applied to high-quality recordings of a database with subjects who were breathing at different rates while sitting or standing. When a proper fractional differintegration order is selected by using the RR time series as a reference, the agreement between the obtained IBI and RR is better than that for other state-of-the-art fiducial points. This work tested seven different traditional fiducial points. For the agreement analysis, the median standard deviation of the difference between the IBI and RR time series is 5.72 ms for the proposed fiducial point versus 6.20 ms for the best-performing traditional fiducial point, although it can reach as high as 9.93 ms for another traditional fiducial point. Other optimization criteria aim to reduce the standard deviation of the PAT (7.21 ms using the proposed fiducial point versus 8.22 ms to 15.4 ms for the best- and worst-performing traditional fiducial points) or to minimize the standard deviation of the PAT attributable to breathing (3.44 ms using the proposed fiducial point versus 4.40 ms to 5.12 ms for best- and worst-performing traditional fiducial points). The use of these fiducial points may help to better quantify the beat-to-beat PAT variability and IBI time series.


Subject(s)
Photoplethysmography , Pulse Wave Analysis , Humans , Photoplethysmography/methods , Pulse Wave Analysis/methods , Heart Rate , Time Factors , Electrocardiography
8.
Math Biosci Eng ; 21(1): 1508-1526, 2024 Jan.
Article in English | MEDLINE | ID: mdl-38303475

ABSTRACT

Phase-type distributions (PHDs), which are defined as the distribution of the lifetime up to the absorption in an absorbent Markov chain, are an appropriate candidate to model the lifetime of any system, since any non-negative probability distribution can be approximated by a PHD with sufficient precision. Despite PHD potential, friendly statistical programs do not have a module implemented in their interfaces to handle PHD. Thus, researchers must consider others statistical software such as R, Matlab or Python that work with the compilation of code chunks and functions. This fact might be an important handicap for those researchers who do not have sufficient knowledge in programming environments. In this paper, a new interactive web application developed with shiny is introduced in order to adjust PHD to an experimental dataset. This open access app does not require any kind of knowledge about programming or major mathematical concepts. Users can easily compare the graphic fit of several PHDs while estimating their parameters and assess the goodness of fit with just several clicks. All these functionalities are exhibited by means of a numerical simulation and modeling the time to live since the diagnostic in primary breast cancer patients.


Subject(s)
Breast Neoplasms , Mobile Applications , Humans , Female , Software , Probability , Computer Simulation , Markov Chains
10.
JAMA Netw Open ; 7(2): e2354473, 2024 Feb 05.
Article in English | MEDLINE | ID: mdl-38324314

ABSTRACT

Importance: The universal call to action for healthier and more sustainable dietary choices is the framework of the United Nations's Sustainable Development Goals. The Atlantic diet, originating from the northwest of the Iberian Peninsula, represents an example of a traditional diet that aligns with these principles. Objective: To explore a 6-month intervention based on the Atlantic diet's effects on metabolic and environmental health, assessing metabolic syndrome (MetS) incidence and the carbon footprint. Design, Setting, and Participants: The Galician Atlantic Diet study was a 6-month randomized clinical trial designed to assess the effects of this regional traditional diet on families' eating habits. The study was conducted from March 3, 2014, to May 29, 2015, at a local primary health care center in the rural town of A Estrada in northwestern Spain and involved a multisectoral collaboration. Families were randomly selected from National Health System records and randomized 1:1 to an intervention or control group. This secondary analysis of the trial findings was performed between March 24, 2021, and November 7, 2023. Interventions: Over 6 months, families in the intervention group received educational sessions, cooking classes, written supporting material, and foods characteristic of the Atlantic diet, whereas those randomized to the control group continued with their habitual lifestyle. Main Outcomes and Measures: The main outcomes were MetS incidence, defined per National Cholesterol Education Program Adult Treatment Panel III guidelines, and carbon footprint emissions as an environmental metric using life cycle assessment with daily dietary intake as the functional unit. Results: Initially, 250 families were randomized (574 participants; mean [SD] age, 46.8 [15.7] years; 231 males [40.2%] and 343 females [59.8%]). The intervention group included 126 families (287 participants) and the control group, 124 families (287 participants). Ultimately, 231 families completed the trial. The intervention significantly reduced the risk of incident cases of MetS (rate ratio, 0.32; 95% CI, 0.13-0.79) and had fewer MetS components (proportional odds ratio, 0.58; 95% CI, 0.42-0.82) compared with the control condition. The intervention group did not have a significantly reduced environmental impact in terms of carbon footprint emissions compared with the control group (-0.17 [95% CI, -0.46 to 0.12] kg CO2 equivalents/person/d). Conclusions and Relevance: These findings provide important evidence that a family-focused dietary intervention based on a traditional diet can reduce the risk of incident MetS. Further research is needed to understand the underlying mechanisms and determine the generalizability to other populations, taking into account regional cultural and dietary variations. Trial Registration: ClinicalTrials.gov Identifier: NCT02391701.


Subject(s)
Cooking , Diet , Adult , Female , Male , Humans , Middle Aged , Food , Control Groups , Carbon Footprint
11.
BMC Oral Health ; 24(1): 134, 2024 Jan 26.
Article in English | MEDLINE | ID: mdl-38279099

ABSTRACT

The aim of the present study was to analyze and compare the angle deviation of two, four and six adjacent dental implants placed with and without straight parallel pins. MATERIALS AND METHODS: Two hundred and forty (240) dental implants were selected and randomly allocated into the following study groups: Two dental implants placed with straight parallel pins (Ref.: 144-100, BioHorizons, Birmingham, AL, USA) (n = 10) (2PP); Two dental implants placed without parallel pins (n = 10) (2withoutPP); Four dental implants placed with straight parallel pins hT(n = 10) (4PP); Four dental implants placed without parallel pins (n = 10) (4withoutPP); Six dental implants placed with straight parallel pins (n = 10) (6PP) and Six dental implants placed without parallel pins (n = 10) (6withoutPP). The dental implants randomly assigned to groups 2PP and 2withoutPP were placed into standardized polyurethane models of partially edentulous upper jaws in tooth positions 2.4 and 2.6, the dental implants randomly assigned to groups 4PP and 4withoutPP were placed into standardized polyurethane models of fully edentulous upper jaws in tooth positions 1.6, 1.4, 2.4 and 2.6, and the dental implants randomly assigned to groups 6PP and 6withoutPP were placed into standardized polyurethane models of fully edentulous upper jaws in tooth positions 1.6, 1.4, 1.2, 2.2, 2.4 and 2.6. Afterwards, postoperative CBCT scans and digital impressions were aligned in a 3D implant-planning software to compare the angle deviation (°) of two, four and six adjacent dental implants placed with and without straight parallel pins using the General Linear Model statistical analysis. RESULTS: Statistically significant differences were found between the angle deviation of 2 dental implants placed with straight parallel pins (p < 0.0001) and between the angle deviation of 4 dental implants placed with straight parallel pins (p = 0.0024); however, no statistically significant differences were found in the angle deviation of 6 dental implants placed with straight parallel pins (p = 0.9967). CONCLUSION: The use of a straight parallelization pin results in lower angle deviation between two and four adjacent dental implants; however, it is not effective for a larger number of dental implants.


Subject(s)
Dental Implants , Jaw, Edentulous , Surgery, Computer-Assisted , Humans , Dental Implantation, Endosseous/methods , Polyurethanes , Surgery, Computer-Assisted/methods , Imaging, Three-Dimensional , Computer-Aided Design , Cone-Beam Computed Tomography
12.
J Exp Bot ; 75(9): 2754-2771, 2024 May 03.
Article in English | MEDLINE | ID: mdl-38224521

ABSTRACT

l-Ascorbic acid (AsA, vitamin C) is a pivotal dietary nutrient with multifaceted importance in living organisms. In plants, the Smirnoff-Wheeler pathway is the primary route for AsA biosynthesis, and understanding the mechanistic details behind its component enzymes has implications for plant biology, nutritional science, and biotechnology. As part of an initiative to determine the structures of all six core enzymes of the pathway, the present study focuses on three of them in the model species Myrciaria dubia (camu-camu): GDP-d-mannose 3',5'-epimerase (GME), l-galactose dehydrogenase (l-GalDH), and l-galactono-1,4-lactone dehydrogenase (l-GalLDH). We provide insights into substrate and cofactor binding and the conformational changes they induce. The MdGME structure reveals a distorted substrate in the active site, pertinent to the catalytic mechanism. Mdl-GalDH shows that the way in which NAD+ association affects loop structure over the active site is not conserved when compared with its homologue in spinach. Finally, the structure of Mdl-GalLDH is described for the first time. This allows for the rationalization of previously identified residues which play important roles in the active site or in the formation of the covalent bond with FAD. In conclusion, this study enhances our understanding of AsA biosynthesis in plants, and the information provided should prove useful for biotechnological applications.


Subject(s)
Ascorbic Acid , Fruit , Myrtaceae , Plant Proteins , Ascorbic Acid/metabolism , Ascorbic Acid/biosynthesis , Fruit/metabolism , Plant Proteins/metabolism , Plant Proteins/genetics , Plant Proteins/chemistry , Myrtaceae/metabolism , Myrtaceae/genetics , Galactose Dehydrogenases/metabolism , Galactose Dehydrogenases/genetics , Oxidoreductases Acting on CH-CH Group Donors/metabolism , Oxidoreductases Acting on CH-CH Group Donors/genetics
13.
Chem Biodivers ; 21(2): e202301689, 2024 Feb.
Article in English | MEDLINE | ID: mdl-38224527

ABSTRACT

Herein we describe the in situ inhibitory activity of three hybrid films (FL1, FL2, and FL3) against two wild strains of Colletotrichum gloeosporioides and Penicillium digitatum as causal agents of rot in Persian limes. The films FL2 and FL3 contained 1.0 and 1.3 % weight/volume Litsea glaucescens essential oil (LgEO) and significantly (p<0.05) delayed rot emergence in Persian limes caused by both pathogens up to 10 days. The physicochemical properties of LgEO and hybrid films were obtained, whereas detailed HPLC profiling revealed that fruit covered with these films significantly (p<0.01) preserved reducing sugars (sucrose, fructose, and glucose), organic acids (citric acid, ascorbic acid, malic acid, and oxalic acid), and flavonoids with nutraceutical activity (hesperidin, eriocitrin, naruritin, neohesperidin, diosmin, vitexin, rutin, and quercetin). This evidence sustains that the composites generated in this investigation improve the shelf life of Persian limes and conserve their nutraceutical content.


Subject(s)
Citrus , Litsea , Oils, Volatile , Antifungal Agents/pharmacology , Antifungal Agents/analysis , Oils, Volatile/analysis , Fruit/chemistry
14.
Clin Rehabil ; 38(4): 558-568, 2024 Apr.
Article in English | MEDLINE | ID: mdl-38295335

ABSTRACT

OBJECTIVE: To identify differences in the muscle mechanical properties of the pelvic floor (PF) and lumbar paravertebral (LP) muscles between young nulliparous and uni/multiparous women. Secondarily, specific behaviors, depending on the presence or absence or urinary incontinence (UI), were also researched. DESIGN: Case-control study. SETTING: Higher education institution. PARTICIPANTS: One hundred young women participated, divided into two groups depending on whether they had vaginal birth (nulliparous or uni/multiparous). Each group included women with and without UI. MAIN MEASURES: A muscle mechanical properties (tone, stiffness, decrement-inverse of elasticity-, and viscoelastic properties: relaxation and creep) assessment of the PF and LP muscles were performed with a hand-held tonometer. RESULTS: Tone and stiffness of both sides of the PF presented group by UI interaction (p < 0.05), with uni/multiparous women with UI showing higher tone and stiffness compared to multiparous women without UI. In LP muscles, uni/multiparous women showed greater tone and stiffness on the right and left sides [-2.57 Hz (95% confidence interval -4.42,-0.72) and -79.74 N/m (-143.52,-15.97); -2.20 Hz (-3.82,-0.58) and -81.30 N/m (-140.66-,21.95), respectively], as well as a decrease in viscoelastic properties compared to nulliparous women [relaxation: 2.88 ms (0.31,5.44); creep: 0.15 (0.01,0.30); relaxation: 2.69 ms (0.13,5.25); creep: 0.14 (0,0.28), respectively]. CONCLUSIONS: Vaginal birth and UI have a differential influence on the muscle mechanical properties of the PF and LP muscles. The determination of muscle mechanical properties by externally applied hand-held tonometry improves the knowledge of the lumbopelvic status, with applicability in clinical and research fields.


Subject(s)
Urinary Incontinence , Female , Humans , Case-Control Studies , Urinary Incontinence/etiology , Muscle Strength/physiology , Muscles
15.
Circ Res ; 134(4): 411-424, 2024 02 16.
Article in English | MEDLINE | ID: mdl-38258600

ABSTRACT

BACKGROUND: APOE is a known genetic contributor to cardiovascular disease, but the differential role APOE alleles play in subclinical atherosclerosis remains unclear. METHODS: The PESA (Progression of Early Subclinical Atherosclerosis) is an observational cohort study that recruited 4184 middle-aged asymptomatic individuals to be screened for cardiovascular risk and multiterritorial subclinical atherosclerosis. Participants were APOE-genotyped, and omics data were additionally evaluated. RESULTS: In the PESA study, the frequencies for APOE -ε2, -ε3, and -ε4 alleles were 0.060, 0.844, and 0.096, respectively. This study included a subcohort of 3887 participants (45.8±4.3 years of age; 62% males). As expected, APOE-ε4 carriers were at the highest risk for cardiovascular disease and had significantly greater odds of having subclinical atherosclerosis compared with ε3/ε3 carriers, which was mainly explained by their higher levels of low-density lipoprotein (LDL)-cholesterol. In turn, APOE-ε2 carriers were at the lowest risk for cardiovascular disease and had significantly lower odds of having subclinical atherosclerosis in several vascular territories (carotids: 0.62 [95% CI, 0.47-0.81]; P=0.00043; femorals: 0.60 [0.47-0.78]; P=9.96×10-5; coronaries: 0.53 [0.39-0.74]; P=0.00013; and increased PESA score: 0.58 [0.48-0.71]; P=3.16×10-8). This APOE-ε2 atheroprotective effect was mostly independent of the associated lower LDL-cholesterol levels and other cardiovascular risk factors. The protection conferred by the ε2 allele was greater with age (50-54 years: 0.49 [95% CI, 0.32-0.73]; P=0.00045), and normal (<150 mg/dL) levels of triglycerides (0.54 [0.44-0.66]; P=4.70×10-9 versus 0.90 [0.57-1.43]; P=0.67 if ≥150 mg/dL). Omics analysis revealed an enrichment of several canonical pathways associated with anti-inflammatory mechanisms together with the modulation of erythrocyte homeostasis, coagulation, and complement activation in ε2 carriers that might play a relevant role in the ε2's atheroprotective effect. CONCLUSIONS: This work sheds light on the role of APOE in cardiovascular disease development with important therapeutic and prevention implications on cardiovascular health, especially in early midlife. REGISTRATION: URL: https://www.clinicaltrials.gov: NCT01410318.


Subject(s)
Atherosclerosis , Cardiovascular Diseases , Male , Middle Aged , Humans , Female , Apolipoprotein E2/genetics , Genetic Predisposition to Disease , Apolipoproteins E/genetics , Cardiovascular Diseases/genetics , Genotype , Atherosclerosis/epidemiology , Atherosclerosis/genetics , Cholesterol, LDL , Alleles
16.
Br J Dermatol ; 190(6): 876-884, 2024 May 17.
Article in English | MEDLINE | ID: mdl-38261397

ABSTRACT

BACKGROUND: Merkel cell carcinoma (MCC) is an aggressive malignant neuroendocrine tumour. There are two subsets of MCC, one related to Merkel cell polyomavirus (MCPyV) and the other to ultraviolet radiation (UVR). MCPyV-positive and MCPyV-negative MCCs have been considered to be different tumours, as the former harbour few DNA mutations and are not related to UVR, and the latter usually arise in sun-exposed areas and may be found in conjunction with other keratinocytic tumours, mostly squamous cell carcinomas. Two viral oncoproteins, large T antigen (LT; coded by MCPyV_gp3) and small T antigen (sT; coded by MCPyV_gp4), promote different carcinogenic pathways. OBJECTIVES: To determine which genes are differentially expressed in MCPyV-positive and MCPyV-negative MCC; to describe the mutational burden and the most frequently mutated genes in both MCC subtypes; and to identify the clinical and molecular factors that may be related to patient survival. METHODS: Ninety-two patients with a diagnosis of MCC were identified from the medical databases of participating centres. To study gene expression, a customized panel of 172 genes was developed. Gene expression profiling was performed with nCounter technology. For mutational studies, a customized panel of 26 genes was designed. Somatic single nucleotide variants (SNVs) were identified following the GATK Best Practices workflow for somatic mutations. RESULTS: The expression of LT enabled the series to be divided into two groups (LT positive, n = 55; LT negative, n = 37). Genes differentially expressed in LT-negative patients were related to epithelial differentiation, especially SOX9, or proliferation and the cell cycle (MYC, CDK6), among others. Congruently, LT displayed lower expression in SOX9-positive patients, and differentially expressed genes in SOX9-positive patients were related to epithelial/squamous differentiation. In LT-positive patients, the mean SNV frequency was 4.3; in LT-negative patients it was 10 (P = 0.03). On multivariate survival analysis, the expression of SNAI1 [hazard ratio (HR) 1.046, 95% confidence interval (CI) 1.007-1.086; P = 0.02] and CDK6 (HR 1.049, 95% CI 1.020-1.080; P = 0.001) were identified as risk factors. CONCLUSIONS: Tumours with weak LT expression tend to co-express genes related to squamous differentiation and the cell cycle, and to have a higher mutational burden. These findings are congruent with those of earlier studies.


Merkel cell carcinoma (MCC) is an aggressive form of skin tumour. There are two subtypes of MCC: one of them is related to a virus called Merkel cell polyomavirus (MCPyV); the other one is related to persistent exposure to sunlight. The aim of this research was to find differences between these subtypes in their molecular behaviour (the genes that are expressed and the mutations that may be found). To do this, we carried out two studies, one to investigate gene expression (the process cells use to convert the instructions in our DNA into a functional product such as a protein) and one to look at gene mutations (changes in the DNA sequence). We found that the tumours that were not related to MCPyV expressed genes related to epithelial differentiation (the process by which unspecialized cells gain features characteristics of epithelial cells, which, among other things, make up the outer surface of the body), which means that the origin of both MCC subtypes may be different. We also found that MCPyV-related tumours had fewer mutations. Our findings are important because they help us to understand the biology of the MCC subtypes and could help with the development of new treatments for people diagnosed with skin tumours.


Subject(s)
Antigens, Viral, Tumor , Carcinoma, Merkel Cell , Merkel cell polyomavirus , Polyomavirus Infections , SOX9 Transcription Factor , Skin Neoplasms , Tumor Virus Infections , Humans , Carcinoma, Merkel Cell/virology , Carcinoma, Merkel Cell/genetics , Carcinoma, Merkel Cell/pathology , Merkel cell polyomavirus/genetics , Merkel cell polyomavirus/isolation & purification , Skin Neoplasms/virology , Skin Neoplasms/genetics , Skin Neoplasms/pathology , Male , Aged , Female , Polyomavirus Infections/genetics , Polyomavirus Infections/virology , Tumor Virus Infections/genetics , Tumor Virus Infections/virology , SOX9 Transcription Factor/genetics , Antigens, Viral, Tumor/genetics , Aged, 80 and over , Middle Aged , Mutation , Gene Expression Regulation, Neoplastic , Gene Expression Profiling
17.
Clin Transl Oncol ; 26(5): 1089-1097, 2024 May.
Article in English | MEDLINE | ID: mdl-37848694

ABSTRACT

PURPOSE: This study aimed to develop a set of criteria and indicators to evaluate the quality of care of patients with head and neck cancer (HNC). METHODS: A systematic literature review was conducted to identify valuable criteria/indicators for the assessment of the quality of care in HNC. With the aid of a technical group, a scientific committee of oncologists specialised in HNC used selected criteria to propose indicators that were evaluated with a two-round Delphi method. Indicators on which consensus was achieved were then prioritised by the scientific committee to develop a final set of indicators. RESULTS: We proposed a list of 50 indicators used in the literature or developed by us to be evaluated with a Delphi method. There was consensus on the appropriateness of 47 indicators in the first round; the remaining 3 achieved consensus in the second round. The 50 indicators were scored to prioritise them, leading to a final selection of 29 indicators related to structure (3), process (22), or outcome (4) and covering diagnosis, treatment, follow-up, and health outcomes in patients with HNC. Easy-to-use index cards were developed for each indicator, with their criterion, definition, formula for use in real-world clinical practice, rationale, and acceptable level of attainment. CONCLUSIONS: We have developed a set of 29 evidence-based and expert-supported indicators for evaluating the quality of care in HNC, covering diagnosis, treatment, follow-up, and health outcomes.

18.
An Bras Dermatol ; 99(2): 202-209, 2024.
Article in English | MEDLINE | ID: mdl-37989688

ABSTRACT

BACKGROUND: Skin cancer is the most frequent cancer worldwide and the most frequent periocular tumor. Keratinocyte Carcinomas (KC) located in periorificial areas, such as periocular tumors, are considered high-risk tumors. Mohs Micrographic Surgery (MMS) is considered the first line for the treatment of high-risk KC, providing a lower recurrence rate than conventional wide excision. OBJECTIVE: To describe the clinical-pathological features of periocular KC treated with MMS in a tertiary university center in Chile. METHODS: A single-center, retrospective study of patients with KC located on the periocular area, that underwent MMS between 2017‒2022. MMS details were recorded. RESULTS: One hundred thirteen patients with periocular carcinomas were included. The mean age was 59 ± 13 years; 52% were women. The most frequent location was the medial canthus (53%), followed by the lower eyelid (30.1%). The most frequent BCC histology was the nodular variant (59.3%). Regarding MMS, the average number of stages was 1.5 ± 0.7, and 54% of the cases required only 1 stage to achieve clear margins. To date, no recurrence has been reported. Tumors larger than 8.5 mm in largest diameter or 43.5 mm2 were more likely to require complex reconstruction. STUDY LIMITATIONS: Retrospective design and a relatively low number of patients in the SCC group. Possible selection bias, as larger or more complex cases, may have been referred to oculoplastic surgeons directly. CONCLUSION: The present study confirms the role of MMS for the treatment of periocular KCs. Periocular KCs larger than 8.5 mm might require complex reconstruction. These results can be used to counsel patients during pre-surgical visits.


Subject(s)
Carcinoma, Basal Cell , Eyelid Neoplasms , Skin Neoplasms , Humans , Female , Middle Aged , Aged , Male , Retrospective Studies , Carcinoma, Basal Cell/surgery , Carcinoma, Basal Cell/pathology , Eyelid Neoplasms/surgery , Eyelid Neoplasms/pathology , Mohs Surgery/methods , Neoplasm Recurrence, Local/pathology , Skin Neoplasms/surgery , Skin Neoplasms/pathology , Keratinocytes/pathology
19.
An. bras. dermatol ; 99(2): 202-209, Mar.-Apr. 2024. tab, graf
Article in English | LILACS-Express | LILACS | ID: biblio-1556832

ABSTRACT

Abstract Background Skin cancer is the most frequent cancer worldwide and the most frequent periocular tumor. Keratinocyte Carcinomas (KC) located in periorificial areas, such as periocular tumors, are considered high-risk tumors. Mohs Micrographic Surgery (MMS) is considered the first line for the treatment of high-risk KC, providing a lower recurrence rate than conventional wide excision. Objective To describe the clinical-pathological features of periocular KC treated with MMS in a tertiary university center in Chile. Methods A single-center, retrospective study of patients with KC located on the periocular area, that underwent MMS between 2017‒2022. MMS details were recorded. Results One hundred thirteen patients with periocular carcinomas were included. The mean age was 59 ± 13 years; 52% were women. The most frequent location was the medial canthus (53%), followed by the lower eyelid (30.1%). The most frequent BCC histology was the nodular variant (59.3%). Regarding MMS, the average number of stages was 1.5 ± 0.7, and 54% of the cases required only 1 stage to achieve clear margins. To date, no recurrence has been reported. Tumors larger than 8.5 mm in largest diameter or 43.5 mm2 were more likely to require complex reconstruction. Study limitations Retrospective design and a relatively low number of patients in the SCC group. Possible selection bias, as larger or more complex cases, may have been referred to oculoplastic surgeons directly. Conclusion The present study confirms the role of MMS for the treatment of periocular KCs. Periocular KCs larger than 8.5 mm might require complex reconstruction. These results can be used to counsel patients during pre-surgical visits.

20.
Cancers (Basel) ; 15(23)2023 Nov 25.
Article in English | MEDLINE | ID: mdl-38067283

ABSTRACT

(1) Background: Our purpose is to describe the design of a phase II clinical trial on 5-fraction proton therapy for chordomas and chondrosarcomas of the skull base and to present early results in terms of local control and clinical tolerance of the first prospective series. (2) Methods: A dose of 37.5 GyRBE in five fractions was proposed for chordomas and 35 GyRBE in five fractions for chondrosarcomas. The established inclusion criteria are age ≥ 18 years, Karnofsky Performance Status ≥ 70%, clinical target volume up to 50 cc, and compliance with dose restrictions to the critical organs. Pencil beam scanning was used for treatment planning, employing four to six beams. (3) Results: A total of 11 patients (6 chordomas and 5 chondrosarcomas) were included. The median follow-up was 12 months (9-15 months) with 100% local control. Acute grade I-II headache (64%), grade I asthenia and alopecia (45%), grade I nausea (27%), and grade I dysphagia (18%) were described. Late toxicity was present in two patients with grade 3 temporal lobe necrosis. (4) Conclusions: Hypofractionated proton therapy is showing encouraging preliminary results. However, to fully assess the efficacy of this therapeutic approach, future trials with adequate sample sizes and extended follow-ups are necessary.

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