ABSTRACT
INTRODUCTION: Personalised prevention aims to delay or avoid disease occurrence, progression, and recurrence of disease through the adoption of targeted interventions that consider the individual biological, including genetic data, environmental and behavioural characteristics, as well as the socio-cultural context. This protocol summarises the main features of a rapid scoping review to show the research landscape on biomarkers or a combination of biomarkers that may help to better identify subgroups of individuals with different risks of developing specific diseases in which specific preventive strategies could have an impact on clinical outcomes. This review is part of the "Personalised Prevention Roadmap for the future HEalThcare" (PROPHET) project, which seeks to highlight the gaps in current personalised preventive approaches, in order to develop a Strategic Research and Innovation Agenda for the European Union. OBJECTIVE: To systematically map and review the evidence of biomarkers that are available or under development in cancer, cardiovascular and neurodegenerative diseases that are or can be used for personalised prevention in the general population, in clinical or public health settings. METHODS: Three rapid scoping reviews are being conducted in parallel (February-June 2023), based on a common framework with some adjustments to suit each specific condition (cancer, cardiovascular or neurodegenerative diseases). Medline and Embase will be searched to identify publications between 2020 and 2023. To shorten the time frames, 10% of the papers will undergo screening by two reviewers and only English-language papers will be considered. The following information will be extracted by two reviewers from all the publications selected for inclusion: source type, citation details, country, inclusion/exclusion criteria (population, concept, context, type of evidence source), study methods, and key findings relevant to the review question/s. The selection criteria and the extraction sheet will be pre-tested. Relevant biomarkers for risk prediction and stratification will be recorded. Results will be presented graphically using an evidence map. INCLUSION CRITERIA: Population: general adult populations or adults from specific pre-defined high-risk subgroups; concept: all studies focusing on molecular, cellular, physiological, or imaging biomarkers used for individualised primary or secondary prevention of the diseases of interest; context: clinical or public health settings. SYSTEMATIC REVIEW REGISTRATION: https://doi.org/10.17605/OSF.IO/7JRWD (OSF registration DOI).
Subject(s)
Biomarkers , Precision Medicine , Humans , Precision Medicine/methods , Chronic Disease/prevention & control , Neoplasms/prevention & control , Cardiovascular Diseases/prevention & control , Neurodegenerative Diseases/prevention & control , Systematic Reviews as TopicABSTRACT
Digital health technologies (DHTs) are increasingly being adopted in clinical trials, as they enable objective evaluations of health parameters in free-living environments. Although lumbar accelerometers notably provide reliable gait parameters, embedding accelerometers in chest devices, already used for vital signs monitoring, could capture a more comprehensive picture of participants' wellbeing, while reducing the burden of multiple devices. Here we assess the validity of gait parameters measured from a chest accelerometer. Twenty healthy adults (13 females, mean ± sd age: 33.9 ± 9.1 years) instrumented with lumbar and chest accelerometers underwent in-lab and outside-lab walking tasks, while monitored with reference devices (an instrumented mat, and a 6-accelerometers set). Gait parameters were extracted from chest and lumbar accelerometers using our open-source Scikit Digital Health gait (SKDH-gait) algorithm, and compared against reference values via Bland-Altman plots, Pearson's correlation, and intraclass correlation coefficient. Mixed effects regression models were performed to investigate the effect of device, task, and their interaction. Gait parameters derived from chest and lumbar accelerometers showed no significant difference and excellent agreement across all tasks, as well as good-to-excellent agreement and strong correlation against reference values, thus supporting the deployment of a single multimodal chest device in clinical trials, to simultaneously measure gait and vital signs.Trial Registration: The study was reviewed and approved by the Advarra IRB (protocol number: Pro00043100).
Subject(s)
Accelerometry , Gait , Thorax , Humans , Female , Male , Adult , Accelerometry/instrumentation , Accelerometry/methods , Gait/physiology , Healthy Volunteers , Walking/physiology , Wearable Electronic Devices , Algorithms , Young AdultABSTRACT
BACKGROUND: Plants have acquired a repertoire of mechanisms to combat biotic stressors, which may vary depending on the feeding strategies of herbivores and the plant species. Hormonal regulation crucially modulates this malleable defense response. Jasmonic acid (JA) and salicylic acid (SA) stand out as pivotal regulators of defense, while other hormones like abscisic acid (ABA), ethylene (ET), gibberellic acid (GA) or auxin also play a role in modulating plant-pest interactions. The plant defense response has been described to elicit effects in distal tissues, whereby aboveground herbivory can influence belowground response, and vice versa. This impact on distal tissues may be contingent upon the feeding guild, even affecting both the recovery of infested tissues and those that have not suffered active infestation. RESULTS: To study how phytophagous with distinct feeding strategies may differently trigger the plant defense response during and after infestation in both infested and distal tissues, Arabidopsis thaliana L. rosettes were infested separately with the chewing herbivore Pieris brassicae L. and the piercing-sucker Tetranychus urticae Koch. Moderate infestation conditions were selected for both pests, though no quantitative control of damage levels was carried out. Feeding mode did distinctly influence the transcriptomic response of the plant under these conditions. Though overall affected processes were similar under either infestation, their magnitude differed significantly. Plants infested with P. brassicae exhibited a short-term response, involving stress-related genes, JA and ABA regulation and suppressing growth-related genes. In contrast, T. urticae elicited a longer transcriptomic response in plants, albeit with a lower degree of differential expression, in particular influencing SA regulation. These distinct defense responses transcended beyond infestation and through the roots, where hormonal response, flavonoid regulation or cell wall reorganization were differentially affected. CONCLUSION: These outcomes confirm that the existent divergent transcriptomic responses elicited by herbivores employing distinct feeding strategies possess the capacity to extend beyond infestation and even affect tissues that have not been directly infested. This remarks the importance of considering the entire plant's response to localized biotic stresses.
Subject(s)
Arabidopsis , Butterflies , Animals , Transcriptome , Herbivory/physiology , Mastication , Butterflies/physiology , Abscisic Acid/metabolism , Arabidopsis/metabolism , Gene Expression Regulation, Plant , Cyclopentanes/metabolismABSTRACT
The European sardine (Sardina pilchardus, Walbaum 1792) is indisputably a commercially important species. Previous studies using uneven sampling or a limited number of makers have presented sometimes conflicting evidence of the genetic structure of S. pilchardus populations. Here, we show that whole genome data from 108 individuals from 16 sampling areas across 5000 km of the species' distribution range (from the Eastern Mediterranean to the archipelago of Azores) support at least three genetic clusters. One includes individuals from Azores and Madeira, with evidence of substructure separating these two archipelagos in the Atlantic. Another cluster broadly corresponds to the center of the distribution, including the sampling sites around Iberia, separated by the Almeria-Oran front from the third cluster that includes all of the Mediterranean samples, except those from the Alboran Sea. Individuals from the Canary Islands appear to belong to the Mediterranean cluster. This suggests at least two important geographical barriers to gene flow, even though these do not seem complete, with many individuals from around Iberia and the Mediterranean showing some patterns compatible with admixture with other genetic clusters. Genomic regions corresponding to the top outliers of genetic differentiation are located in areas of low recombination indicative that genetic architecture also has a role in shaping population structure. These regions include genes related to otolith formation, a calcium carbonate structure in the inner ear previously used to distinguish S. pilchardus populations. Our results provide a baseline for further characterization of physical and genetic barriers that divide European sardine populations, and information for transnational stock management of this highly exploited species towards sustainable fisheries.
Subject(s)
Fishes , Metagenomics , Humans , Animals , Fishes/genetics , Portugal , Genome/genetics , SpainABSTRACT
Antecedentes y objetivo El solapamiento clínico y bioquímico de diversas enfermedades del metabolismo fosfocálcico puede conllevar un erróneo diagnóstico y su consecuente abordaje clínico. Un ejemplo es el seudohipoparatiroidismo, que puede confundirse con el raquitismo dependiente de vitamina D (VDDR1) si no se hacen las determinaciones bioquímicas adecuadas. Pacientes y métodos Dos parejas de hermanos, de familias independientes, fueron diagnosticados clínicamente en la adolescencia de seudohipoparatiroidismo al presentar hipocalcemia, niveles elevados de hormona paratiroidea y valores normales o elevados de fósforo. Tras descartar alteraciones en GNAS, se realizó un estudio, mediante secuenciación masiva, de genes asociados a otros diagnósticos diferenciales. Resultados Se identificaron 2variantes genéticas en el gen CYP27B1 potencialmente asociadas con el fenotipo. Variantes patogénicas en este gen se asocian con VDDR1A. La reevaluación clínica-bioquímica de los pacientes confirmó dicho diagnóstico y se adecuó el tratamiento. Conclusiones Si bien la VDDR1A es un trastorno del metabolismo de diagnóstico infrecuente en la edad adulta, en casos de hipocalcemia con valores elevados de PTH es relevante la determinación de las formas 1,25(OH)2D3 y 25(OH)D3 de la vitamina D para alcanzar un diagnóstico correcto (AU)
Background and objective The clinical and biochemical overlap of various pathologies of phosphocalcic metabolism can lead to misdiagnosis and consequent clinical management. One example is pseudohypoparathyroidism, which can be confused with vitamin D-dependent rickets (VDDR1) if appropriate biochemical determinations are not performed. Patients and methods Two pairs of siblings, from independent families, were clinically diagnosed in adolescence with pseudohypoparathyroidism due to hypocalcaemia, elevated parathyroid hormone levels and normal or elevated phosphorus values. After ruling out alterations in GNAS, a massive sequencing study of genes associated with other differential diagnoses was carried out. Results Two genetic variants in the CYP27B1 gene potentially associated with the phenotype were identified. Pathogenic variants in this gene are associated with VDDR1A. Clinical-biochemical re-evaluation of the patients confirmed this diagnosis and treatment was adapted. Conclusions Although VDDR1A is an infrequently diagnosed pathology in adulthood, in cases of hypocalcaemia with elevated PTH values, determination of the 1,25(OH)2D3 and 25(OH)D3 forms of vitamin D is relevant to reach a correct diagnosis (AU)
Subject(s)
Humans , Female , Middle Aged , Vitamin D Deficiency/diagnosis , Vitamin D Deficiency/genetics , Pseudohypoparathyroidism/diagnosis , Pseudohypoparathyroidism/genetics , Rickets, Hypophosphatemic/diagnosis , Rickets, Hypophosphatemic/geneticsABSTRACT
The interaction between plants and phytophagous arthropods encompasses a complex network of molecules, signals, and pathways to overcome defences generated by each interacting organism. Although most of the elements and modulators involved in this interplay are still unidentified, plant redox homeostasis and signalling are essential for the establishment of defence responses. Here, focusing on the response of Arabidopsis thaliana to the spider mite Tetranychus urticae, we demonstrate the involvement in plant defence of the thioredoxin TRXh5, a small redox protein whose expression is induced by mite infestation. TRXh5 is localized in the cell membrane system and cytoplasm and is associated with alterations in the content of reactive oxygen and nitrogen species. Protein S-nitrosylation signal in TRXh5 over-expression lines is decreased and alteration in TRXh5 level produces changes in the JA/SA hormonal crosstalk of infested plants. Moreover, TRXh5 interacts and likely regulates the redox state of an uncharacterized receptor-like kinase, named THIOREDOXIN INTERACTING RECEPTOR KINASE (TIRK), also induced by mite herbivory. Feeding bioassays performed withTRXh5 over-expression plants result in lower leaf damage and reduced egg accumulation after T. urticae infestation than in wild-type (WT) plants. In contrast, mites cause a more severe injury in trxh5 mutant lines where a greater number of eggs accumulates. Likewise, analysis of TIRK-gain and -loss-of-function lines demonstrate the defence role of this receptor in Arabidopsis against T. urticae. Altogether, our findings demonstrate the interaction between TRXh5 and TIRK and highlight the importance of TRXh5 and TIRK in the establishment of effective Arabidopsis defences against spider mite herbivory.
Subject(s)
Arabidopsis , Tetranychidae , Animals , Arabidopsis/genetics , Tetranychidae/genetics , Plants , Thioredoxins/genetics , HomeostasisABSTRACT
Background: When encountered with pathogens or herbivores, the activation of plant defense results in a penalty in plant fitness. Even though plant priming has the potential of enhancing resistance without fitness cost, hurdles such as mode of application of the priming agent or even detrimental effects in plant fitness have yet to be overcome. Here, we review and propose seed defense priming as an efficient and reliable approach for pathogen protection and pest management. Methods: Gathering all available experimental data to date, we evaluated the magnitude of the effect depending on plant host, antagonist class, arthropod feeding guild and type of priming agent, as well as the influence of parameter selection in measuring seed defense priming effect on plant and antagonist performance. Results: Seed defense priming enhances plant resistance while hindering antagonist performance and without a penalty in plant fitness. Specifically, it has a positive effect on crops and cereals, while negatively affecting fungi, bacteria and arthropods. Plant natural compounds and biological isolates have a stronger influence in plant and antagonist performance than synthetic chemicals and volatiles. Discussion: This is the first meta-analysis conducted evaluating the effect of seed defense priming against biotic stresses studying both plant and pest/pathogen performance. Here, we proved its efficacy in enhancing both, plant resistance and plant fitness, and its wide range of application. In addition, we offered insight into the selection of the most suitable priming agent and directed the focus of interest for novel research.
ABSTRACT
BACKGROUND AND OBJECTIVE: The clinical and biochemical overlap of various pathologies of phosphocalcic metabolism can lead to misdiagnosis and consequent clinical management. One example is pseudohypoparathyroidism, which can be confused with vitamin D-dependent rickets (VDDR1) if appropriate biochemical determinations are not performed. PATIENTS AND METHODS: Two pairs of siblings, from independent families, were clinically diagnosed in adolescence with pseudohypoparathyroidism due to hypocalcaemia, elevated parathyroid hormone levels and normal or elevated phosphorus values. After ruling out alterations in GNAS, a massive sequencing study of genes associated with other differential diagnoses was carried out. RESULTS: Two genetic variants in the CYP27B1 gene potentially associated with the phenotype were identified. Pathogenic variants in this gene are associated with VDDR1A. Clinical-biochemical re-evaluation of the patients confirmed this diagnosis and treatment was adapted. CONCLUSIONS: Although VDDR1A is an infrequently diagnosed pathology in adulthood, in cases of hypocalcaemia with elevated PTH values, determination of the 1,25(OH)2D3 and 25(OH)D3 forms of vitamin D is relevant to reach a correct diagnosis.
Subject(s)
Hypocalcemia , Pseudohypoparathyroidism , Vitamin D Deficiency , Adolescent , Humans , Hypocalcemia/diagnosis , Hypocalcemia/etiology , Parathyroid Hormone , Vitamin D Deficiency/complications , Pseudohypoparathyroidism/diagnosis , Pseudohypoparathyroidism/genetics , Pseudohypoparathyroidism/complications , Vitamin D/therapeutic useABSTRACT
Jasmonates are essential modulators of plant defences but the role of JA-derivatives has been scarcely studied, particularly in the plant-pest interplay. To deepen into the JA catabolism and its impact on plant responses to spider mite infestation, we selected the Arabidopsis JAO2 gene as a key element involved in the first step of the JA-catabolic route. JAO2 is responsible for the hydroxylation of JA into 12-OH-JA, contributes to attenuate JA and JA-Ile content and consequently, determines the formation of other JA-catabolites. JAO2 was up-regulated in Arabidopsis by mite infestation. Mites also induced JA-derivative accumulation in plants. In jao2 mutant lines, and in the triple mutant jaoT (jao2-1, jao3-1, jao4-2), mite feeding produced less leaf damage, minor callose deposition and lower mite fecundity rates than in Col-0 plants. The impairment of JA oxidation in jao2 lines not only diminished the 12-OH-JA levels but turned off further sulfation as shown the significant reduction of 12-HSO4-JA form. Thus, JAO2 acts as a negative modulator of defences to spider mites mediated by changes in the generation of JA catabolic molecules, and the consequent production of defensive metabolites such as glucosinolates or camalexin.
Subject(s)
Arabidopsis Proteins , Arabidopsis , Mite Infestations , Arabidopsis/genetics , Arabidopsis/metabolism , Arabidopsis Proteins/genetics , Arabidopsis Proteins/metabolism , Cyclopentanes/metabolism , Oxylipins/metabolismABSTRACT
OBJECTIVE: To describe a basic training program in microsurgery and to analyze the learning curve through the process, including improvement in operating times and functional outcome. MATERIALS AND METHODS: Our learning program included basic, transitional, and experimental models. The experimental model included tail vein cannulation, intestinal resection and anastomosis, dissection, division and anastomosis of the cava and aorta. Wistar rats (66.7% male; 406.9 ± 38.9 grams) were used. The program adhered to the 3R principle and obtained animal welfare committee approval. RESULTS: Mean tail vein cannulation time was 2.4 ± 1.2 minutes. Mean intestinal resection and jejunocolic anastomosis time was 14.8 ± 2.7 minutes and 10.4 ± 3 minutes, respectively. All anastomoses were functionally valid. Mean vessel dissection time was 22.9 ± 7.7 minutes, aortic artery anastomosis was 17.2 ± 7.1 minutes, and vena cava anastomosis was 25.9 ± 7.3 minutes. 66.7% of vena cava anastomoses were functionally valid vs. 88.9% for the aorta. The time required for all procedures decreased after the third attempt, except for vena cava anastomoses, which remained similar in all 9 procedures. CONCLUSIONS: Our model demonstrated that the procedures were suitable for trainer progression in terms of surgical time and functional outcome. Microsurgical training would benefit from standardized programs to optimize results.
OBJETIVO: Describimos un programa de formación básica en microcirugía y analizamos la curva de aprendizaje a través del proceso, incluyendo la mejora en los tiempos operatorios y en el resultado funcional del procedimiento. MATERIAL Y METODOS: Nuestro programa de aprendizaje incluye modelos básicos, de transición y experimentales. Dentro del modelo experimental se incluyeron: canulación de la vena de la cola, resección y anastomosis intestinal, disección, sección y anastomosis de la cava y la aorta. Se emplearon ratas Wistar (66,7% machos; 406,9 ± 38,9 gramos), el programa se adhirió al principio de las 3R y obtuvo la aprobación del comité de bienestar animal. RESULTADOS: El tiempo medio de canulación de la vena de la cola fue de 2.4 ± 1,2 minutos. El tiempo medio de resección intestinal y anastomosis yeyunocólica de 14.8 ± 2,7 minutos y 10.4 ± 3 minutos, respectivamente. Todas las anastomosis fueron funcionalmente válidas. El tiempo medio de la disección de vasos fue de 22,9 ± 7,7 minutos, la anastomosis de la arteria aorta de 17,2 ± 7,1 minutos, mientras que la anastomosis de la vena cava fue de 25,9 ± 7,3 minutos. El 66,7% de las anastomosis de la vena cava fueron funcionalmente válidas en comparación con el 88,9% de la aorta. El tiempo requerido para todos los procedimientos disminuyó después del tercer intento, excepto para las anastomosis de vena cava, que se mantuvo similar en los 9 procedimientos. CONCLUSIONES: Nuestro modelo demostró que los procedimientos eran adecuados para la progresión del entrenador en términos de tiempo quirúrgico y resultado funcional. La formación microquirúrgica se beneficiaría de programas estandarizados para optimizar los resultados.
Subject(s)
Microsurgery , Surgeons , Rats , Animals , Male , Humans , Female , Microsurgery/methods , Rats, Wistar , Vascular Surgical Procedures/education , Anastomosis, Surgical/methodsABSTRACT
Objetivo: Describimos un programa de formación básica en microcirugía y analizamos la curva de aprendizaje a través del proceso,incluyendo la mejora en los tiempos operatorios y en el resultado funcional del procedimiento. Material y métodos: Nuestro programa de aprendizaje incluyemodelos básicos, de transición y experimentales. Dentro del modeloexperimental se incluyeron: canulación de la vena de la cola, reseccióny anastomosis intestinal, disección, sección y anastomosis de la cava y laaorta. Se emplearon ratas Wistar (66,7% machos; 406,9 ± 38,9 gramos),el programa se adhirió al principio de las 3R y obtuvo la aprobación delcomité de bienestar animal. Resultados: l tiempo medio de canulación de la vena de la cola fuede 2.4 ± 1,2 minutos. El tiempo medio de resección intestinal y anastomosis yeyunocólica de 14.8 ± 2,7 minutos y 10.4 ± 3 minutos, respectivamente. Todas las anastomosis fueron funcionalmente válidas. El tiempomedio de la disección de vasos fue de 22,9 ± 7,7 minutos, la anastomosisde la arteria aorta de 17,2 ± 7,1 minutos, mientras que la anastomosisde la vena cava fue de 25,9 ± 7,3 minutos. El 66,7% de las anastomosisde la vena cava fueron funcionalmente válidas en comparación con el88,9% de la aorta. El tiempo requerido para todos los procedimientosdisminuyó después del tercer intento, excepto para las anastomosis devena cava, que se mantuvo similar en los 9 procedimientos. Conclusiones: Nuestro modelo demostró que los procedimientoseran adecuados para la progresión del entrenador en términos de tiempo quirúrgico y resultado funcional. La formación microquirúrgica sebeneficiaría de programas estandarizados para optimizar los resultados.(AU)
Objective: To describe a basic training program in microsurgery andto analyze the learning curve through the process, including improve-ment in operating times and functional outcome. Materials and methods: Our learning program included basic,transitional, and experimental models. The experimental model includedtail vein cannulation, intestinal resection and anastomosis, dissection,division and anastomosis of the cava and aorta. Wistar rats (66.7% male;406.9 ± 38.9 grams) were used. The program adhered to the 3R principleand obtained animal welfare committee approval. Results: Mean tail vein cannulation time was 2.4 ± 1.2 minutes.Mean intestinal resection and jejunocolic anastomosis time was14.8 ± 2.7 minutes and 10.4 ± 3 minutes, respectively. All anastomoseswere functionally valid. Mean vessel dissection time was 22.9 ± 7.7minutes, aortic artery anastomosis was 17.2 ± 7.1 minutes, and vena cavaanastomosis was 25.9 ± 7.3 minutes. 66.7% of vena cava anastomoseswere functionally valid vs. 88.9% for the aorta. The time required forall procedures decreased after the third attempt, except for vena cavaanastomoses, which remained similar in all 9 procedures. Conclusions: Our model demonstrated that the procedures weresuitable for trainer progression in terms of surgical time and functionaloutcome. Microsurgical training would benefit from standardized pro-grams to optimize results.(AU)
Subject(s)
Humans , Male , Female , Surgeons , Microsurgery/education , Education , Simulation Training , PediatricsABSTRACT
We describe the unusual case of a female patient with a history of two mature teratomas non-correlated in terms of location and occurrence. A 12-year-old girl presented at our consultation as a result of a growing tumor in the hypogastric region, with no further clinical signs. She had undergone surgery neonatally due to a mature cystic sacrococcygeal teratoma, which was fully removed. No clinical sequelae were noted and no additional treatment was required over a 10-year follow-up. Radiological examination showed a large 20 × 12 × 18 cm cystic mass extending from the pelvic region to the lower hemiabdomen, associated with two similar small formations adjacent to the right ovary. Tumor markers were negative, and a laparoscopic right salpingoophorectomy was carried out, with an excellent postoperative progression. Pathological examination revealed it was, again, a mature cystic teratoma. The genetic study ruled out causation in this respect.
Describimos el inusual caso de una paciente con antecedente de dos teratomas maduros no relacionados en cuanto a su localización y debut. Una niña de 12 años consultó por la aparición de una tumoración en la región hipogástrica de crecimiento progresivo sin otra clínica asociada. Había sido intervenida por un teratoma quístico maduro sacrococcígeo en el periodo neonatal con su extirpación completa y, ausencia secuelas clínicas y tratamiento adicional durante diez años de seguimiento posterior. Los exámenes radiológicos mostraron una gran masa quística de 20 × 12 × 18 cm que se extendía entre la región pélvica y el hemiabdomen inferior, acompañada por otras dos pequeñas formaciones similares adyacentes al ovario derecho. Los marcadores tumorales resultaron negativos y se llevó a cabo una salpingooforectomía derecha laparoscópica con una excelente evolución postoperatoria. El examen histopatológico, de nuevo, informó la lesión como teratoma quístico maduro. El estudio genético descartó una posible causalidad en este ámbito.
Subject(s)
Dermoid Cyst , Teratoma , Humans , Child , Female , Teratoma/surgery , Teratoma/pathology , Radiography , Sacrococcygeal Region/pathology , Disease ProgressionABSTRACT
Describimos el inusual caso de una paciente con antecedente de dos teratomas maduros no relacionados en cuanto a su localización y debut. Una niña de 12 años consultó por la aparición de una tumoración en la regió n hipogástrica de crecimiento progresivo sin otra clínica asociada. Había sido intervenida por un teratoma quístico maduro sacrococcígeo en el periodo neonatal con su extirpació n completa y, ausencia secuelas clínicas y tratamiento adicional durante diez años de seguimiento posterior. Los exámenes radioló gicos mostraron una gran masa quística de 20 × 12 × 18 cm que se extendía entre la región pélvica y el hemiabdomen inferior, acompañada por otras dos pequeñas formaciones similares adyacentes al ovario derecho. Los marcadores tumorales resultaron negativos y se llevó a cabo una salpingooforectomía derecha laparoscópica con una excelente evolución postoperatoria. El examen histopatológico, de nuevo, informó la lesión como teratoma quístico maduro. El estudio genético descartó una posible causalidad en este ámbito.(AU)
We describe the unusual case of a female patient with a history of two mature teratomas non-correlated in terms of location and occurrence. A 12-year-old girl presented at our consultation as a result of a growing tumor in the hypogastric region, with no further clinical signs. She had undergone surgery neonatally due to a mature cystic sacrococcygeal teratoma, which was fully removed. No clinical sequelae were noted and no additional treatment was required over a 10-year follow-up. Radiological examination showed a large 20 × 12 × 18 cm cystic mass extending from the pelvic region to the lower hemiabdomen, associated with two similar small formations adjacent to the right ovary. Tumor markers were negative, and a laparoscopic right salpingoophorectomy was carried out, with an excellent postoperative progression. Pathological examination revealed it was, again, a mature cystic teratoma. The genetic study ruled out causation in this respect.(AU)
Subject(s)
Humans , Female , Child , Teratoma , Ovary , Sacrococcygeal Region , Inpatients , Physical Examination , Pediatrics , General SurgeryABSTRACT
BACKGROUND: Surgical treatment of ileo-colic intussusception (ICI) has been reported as the second cause of emergency laparotomy in children. The performance of incidental appendectomy after surgical reduction is currently controversial. The aim is to analyse the outcomes of performing incidental appendectomy after surgical ICI reduction with or without associated bowel resection. MATERIALS AND METHODS: A retrospective study was performed in patients with ICI episodes, who underwent surgical treatment in our institution between 2005-2019. Patients were divided in two groups according to the performance of associated appendectomy (AA group) or not (NA group). Subsequently, a stratified analysis was performed according to the need for bowel resection in both groups. Demographic variables, intraoperative findings, surgical time, hospital stay, postoperative complications and recurrences were analysed. RESULTS: A total of 101 patients (77 AA group; 24 NA group) were included, without differences in demographics or intraoperative findings. A total of 36 bowel resections were performed (24 group AA; 10 group NA), with no differences in surgical time (55.7 min in group AA vs. 61.2 min in group NA; p = 0.587) or hospital stay (median 5 days in both groups). There were also no differences in postoperative complications or recurrences between the two groups. Stratified analysis showed that bowel resection increases operative time, hospital stay and postoperative complications, regardless of whether associated appendectomy was performed or not. CONCLUSIONS: Incidental appendectomy during surgical treatment of ICI in children is a safe procedure that does not increase operative time, hospital stay, postoperative complications or recurrence.
OBJETIVO: El tratamiento quirúrgico de la intususcepción ileocólica (IIC) es la segunda causa más frecuente de laparotomía de urgencia en niños. La realización de una apendicectomía incidental tras la reducción quirúrgica sigue siendo motivo de controversia. El objetivo de este trabajo es analizar los resultados obtenidos al llevar a cabo una apendicectomía incidental tras la reducción quirúrgica de una IIC con o sin resección intestinal asociada. MATERIAL Y METODO: Se realizó un estudio retrospectivo en pacientes con episodios de IIC sometidos a tratamiento quirúrgico en nuestro centro entre 2005 y 2019. Los pacientes se dividieron en dos grupos según se llevara a cabo apendicectomía asociada (grupo AA) o no (grupo NA). Posteriormente, se elaboró un análisis estratificado según la necesidad de practicar resección intestinal en ambos grupos. Se analizaron las variables demográficas, los hallazgos intraoperatorios, el tiempo quirúrgico, la estancia hospitalaria, las complicaciones posoperatorias y las recidivas. RESULTADOS: Se incluyeron un total de 101 pacientes (77 en el grupo AA, y 24 en el grupo NA), sin diferencias en las características demográficas ni en los hallazgos intraoperatorios. Se practicaron un total de 36 resecciones intestinales (24 en el grupo AA; 10 en el grupo NA), sin diferencias en el tiempo quirúrgico (55,7 min en el grupo AA frente a 61,2 min en el grupo NA; p = 0,587) ni en la estancia hospitalaria (mediana de 5 días en ambos grupos). Tampoco se registraron diferencias en términos de complicaciones posoperatorias o recidivas entre los dos grupos. El análisis estratificado mostró que la resección intestinal incrementa el tiempo quirúrgico, la estancia hospitalaria y las complicaciones posoperatorias, con independencia de si se lleva a cabo apendicectomía asociada o no. CONCLUSION: La apendicectomía incidental durante el tratamiento quirúrgico de la IIC en niños es un procedimiento seguro que no aumenta el tiempo quirúrgico, la estancia hospitalaria, las complicaciones posoperatorias ni las posibilidades de recidiva.
Subject(s)
Appendicitis , Digestive System Surgical Procedures , Intussusception , Laparoscopy , Appendectomy/methods , Appendicitis/surgery , Child , Digestive System Surgical Procedures/methods , Humans , Intussusception/surgery , Laparoscopy/methods , Length of Stay , Postoperative Complications/surgery , Retrospective Studies , Treatment OutcomeABSTRACT
Objetivo: El tratamiento quirúrgico de la intususcepción ileocólica(IIC) es la segunda causa más frecuente de laparotomía de urgencia enniños. La realización de una apendicectomía incidental tras la reduc-ción quirúrgica sigue siendo motivo de controversia. El objetivo deeste trabajo es analizar los resultados obtenidos al llevar a cabo unaapendicectomía incidental tras la reducción quirúrgica de una IIC cono sin resección intestinal asociada. Material y método: Se realizó un estudio retrospectivo en pacientescon episodios de IIC sometidos a tratamiento quirúrgico en nuestro centroentre 2005 y 2019. Los pacientes se dividieron en dos grupos según sellevara a cabo apendicectomía asociada (grupo AA) o no (grupo NA). Posteriormente, se elaboró un análisis estratificado según la necesidad depracticar resección intestinal en ambos grupos. Se analizaron las variablesdemográficas, los hallazgos intraoperatorios, el tiempo quirúrgico, laestancia hospitalaria, las complicaciones posoperatorias y las recidivas. Resultados: Se incluyeron un total de 101 pacientes (77 en el gru-po AA, y 24 en el grupo NA), sin diferencias en las características demográficas ni en los hallazgos intraoperatorios. Se practicaron untotal de 36 resecciones intestinales (24 en el grupo AA; 10 en el grupoNA), sin diferencias en el tiempo quirúrgico (55,7 min en el grupo AAfrente a 61,2 min en el grupo NA; p = 0,587) ni en la estancia hospi-talaria (mediana de 5 días en ambos grupos). Tampoco se registrarondiferencias en términos de complicaciones posoperatorias o recidivasentre los dos grupos. El análisis estratificado mostró que la resecciónintestinal incrementa el tiempo quirúrgico, la estancia hospitalaria y las complicaciones posoperatorias, con independencia de si se lleva a caboapendicectomía asociada o no.(AU)
Background: Surgical treatment of ileo-colic intussusception (ICI)has been reported as the second cause of emergency laparotomy inchildren. The performance of incidental appendectomy after surgicalreduction is currently controversial. The aim is to analyse the outcomesof performing incidental appendectomy after surgical ICI reduction withor without associated bowel resection. Materials and methods: A retrospective study was performed inpatients with ICI episodes, who underwent surgical treatment in ourinstitution between 2005-2019. Patients were divided in two groupsaccording to the performance of associated appendectomy (AA group)or not (NA group). Subsequently, a stratified analysis was performedaccording to the need for bowel resection in both groups. Demographicvariables, intraoperative findings, surgical time, hospital stay, postopera-tive complications and recurrences were analysed.Results. A total of 101 patients (77 AA group; 24 NA group) wereincluded, without differences in demographics or intraoperative findings. A total of 36 bowel resections were performed (24 group AA; 10 groupNA), with no differences in surgical time (55.7 min in group AA vs.61.2 min in group NA; p = 0.587) or hospital stay (median 5 days in bothgroups). There were also no differences in postoperative complicationsor recurrences between the two groups. Stratified analysis showed thatbowel resection increases operative time, hospital stay and postopera-tive complications, regardless of whether associated appendectomy wasperformed or not.(AU)
Subject(s)
Humans , Male , Female , Child , Appendectomy , Intussusception , Digestive System Surgical Procedures , Treatment Outcome , Child Health , Pediatrics , General Surgery , Retrospective StudiesABSTRACT
Trichomes are unicellular or multicellular hair-like appendages developed on the aerial plant epidermis of most plant species that act as a protective barrier against natural hazards. For this reason, evaluating the density of trichomes is a valuable approach for elucidating plant defence responses to a continuous challenging environment. However, previous methods for trichome counting, although reliable, require the use of specialised equipment, software or previous manipulation steps of the plant tissue, which poses a complicated hurdle for many laboratories. Here, we propose a new fast, accessible and user-friendly method to quantify trichomes that overcomes all these drawbacks and makes trichome quantification a reachable option for the scientific community. Particularly, this new method is based on the use of machine learning as a reliable tool for quantifying trichomes, following an Ilastik-Fiji tandem approach directly performed on 2D images. Our method shows high reliability and efficacy on trichome quantification in Arabidopsis thaliana by comparing manual and automated results in Arabidopsis accessions with diverse trichome densities. Due to the plasticity that machine learning provides, this method also showed adaptability to other plant species, demonstrating the ability of the method to spread its scope to a greater scientific community.
Subject(s)
Arabidopsis/anatomy & histology , Machine Learning , Trichomes/anatomy & histology , Arabidopsis Proteins/analysis , Machine Learning/standards , Machine Learning/trends , Plant Epidermis/anatomy & histology , Reproducibility of Results , Trichomes/growth & developmentABSTRACT
INTRODUCTION: Perineal groove is an infrequent midline malformation. It is a humid, mucosal, non-keratinized groove located at the perineal midline, extending from the vulvar fourchette to the anterior anal border. It is rare and usually asymptomatic, and it heals spontaneously in most cases. It is frequently mistaken for other malformations, which means correctly identifying it is essential to avoid iatrogenesis. CLINICAL CASE: We present the case of a female newborn with an asymptomatic lesion at the perineal midline consistent with anorectal malformation. Following assessment by the Pediatric Surgery Department, she was diagnosed with perineal groove. DISCUSSION: Perineal groove is a little known malformation among healthcare professionals as it is infrequent and there are not many publications in the literature about it. This case demonstrates how important it is to keep this abnormality in mind to avoid erroneous diagnoses, unnecessary treatments, and family stress.
INTRODUCCION: El surco perineal es una malformación infrecuente de la línea media. Se trata de un surco húmedo, mucoso y no queratinizado localizado en la línea media del periné desde la horquilla vulvar hasta el borde anal anterior. Es una malformación infrecuente, usualmente asintomática y de resolución espontánea en la mayoría de los casos. Esta anomalía es frecuentemente confundida con otras malformaciones por lo que su reconocimiento es fundamental para evitar yatrogenia. CASO CLINICO: Se presenta el caso de una recién nacida con una lesión asintomática en la línea media del periné sospechosa de malformación anorrectal. Tras valoración por el Servicio de Cirugía Pediátrica se diagnosticó de surco perineal. COMENTARIOS: Debido a la infrecuencia y escasa documentación bibliográfica del surco perineal, esta malformación es desconocida para muchos sanitarios. Este caso expone la importancia de tener presente esta anomalía para evitar diagnósticos erróneos, tratamientos innecesarios y estrés familiar.
Subject(s)
Anal Canal , Perineum , Child , Female , Humans , Infant, NewbornABSTRACT
Introducción: El surco perineal es una malformación infrecuente dela línea media. Se trata de un surco húmedo, mucoso y no queratinizado localizado en la línea media del periné desde la horquilla vulvar hastael borde anal anterior. Es una malformación infrecuente, usualmente asintomática y de resolución espontánea en la mayoría de los casos. Esta anomalía es frecuentemente confundida con otras malformaciones por lo que su reconocimiento es fundamental para evitar yatrogenia. Caso clínico: Se presenta el caso de una recién nacida con una lesión asintomática en la línea media del periné sospechosa de malformación anorrectal. Tras valoración por el Servicio de Cirugía Pediátrica se diagnosticó de surco perineal. Comentarios: Debido a la infrecuencia y escasa documentación bibliográfica del surco perineal, esta malformación es desconocida paramuchos sanitarios. Este caso expone la importancia de tener presente estaanomalía para evitar diagnósticos erróneos, tratamientos innecesarios y estrés familiar.(AU)
Introduction: Perineal groove is an infrequent midline malformation. It is a humid, mucosal, non keratinized groove located at theperineal midline, extending from the vulvar fourchette to the anterioranal border. It is rare and usually asymptomatic, and it heals spontane-ously in most cases. It is frequently mistaken for other malformations,which means correctly identifying it is essential to avoid iatrogenesis. Clinical case: We present the case of a female newborn with anasymptomatic lesion at the perineal midline consistent with anorectal malformation. Following assessment by the Pediatric Surgery Department, she was diagnosed with perineal groove. Discussion: Perineal groove is a little known malformation amonghealthcare professionals as it is infrequent and there are not many publications in the literature about it. This case demonstrates how importantit is to keep this abnormality in mind to avoid erroneous diagnoses, unnecessary treatments, and family stress.(AU)
Subject(s)
Humans , Female , Infant, Newborn , Perineum/injuries , Anorectal Malformations , Perineum/abnormalities , Perineum/diagnostic imaging , Diagnostic Errors , Congenital Abnormalities/prevention & control , Child Health , Pediatrics , General SurgeryABSTRACT
Objective: the objective of our study was to evaluate the level of understanding of ostomy patients regarding lifestyle, diet, and high output stoma (HOS) management recommendations provided by healthcare professionals. Method: a prospective study to follow up ostomy patients at nutritional consultations was designed. The follow-up process was performed 7-10 days after hospital discharge and again one month later. At the first visit, patients were instructed in the detection and management of HOS. At the second visit, the level of understanding of the training received was assessed using an evaluation questionnaire. A descriptive analysis of the answers to each of the questionnaire's items was performed. Fisher's exact test was used to evaluate differences in the level of understanding recorded with the questionnaire. Results: a total of 35 patients were recruited; 71.4 % did not provide correct answers to all the questions. There were no significant differences in the correctness of the answers to the questionnaire according to education level. Conclusions: many patients do not adequately understand the information provided by healthcare professionals and this could have a negative impact on the incidence of clinical complications (AU)
Objetivo: el objetivo de nuestro estudio fue evaluar el nivel de comprensión de los pacientes ostomizados con respecto a las recomendaciones sobre estilo de vida, dieta y manejo de la ostomía de alto débito (OAD) proporcionadas por los profesionales de la salud. Método: se diseñó un estudio prospectivo para el seguimiento de pacientes ostomizados en consulta de nutrición. El seguimiento se realizó 7-10 días después del alta hospitalaria y a continuación un mes después. En la primera visita, se instruyó a los pacientes sobre la detección y el tratamiento de OAD. En la segunda visita se evaluó el nivel de comprensión de la formación recibida mediante un cuestionario de evaluación. Se registraron las respuestas dadas a cada uno de los ítems del cuestionario y se realizó un análisis descriptivo. Para evaluar las diferencias en el nivel de comprensión registrado con el cuestionario se utilizó la prueba exacta de Fisher. Resultados: se reclutaron 35 pacientes. El 71,4 % no respondieron correctamente a todas las preguntas. La exactitud de las respuestas al cuestionario no mostró diferencias significativas según el nivel educativo. Conclusiones: un gran número de pacientes no comprende adecuadamente la información que ofrecen los profesionales sanitarios y esto podría tener un impacto negativo en el desarrollo de complicaciones clínicas (AU)
Subject(s)
Humans , Male , Female , Adolescent , Middle Aged , Aged , Ostomy , Life Style , Diet , Patient Education as Topic , Prospective Studies , Surveys and Questionnaires , Health Knowledge, Attitudes, PracticeABSTRACT
Alternatives to combat the persistence of pathogens need to consider the microbiota established on industrial surfaces as they can influence the protection or replacement (i.e. reduction/inhibition) of pathogens. The objective of the present study was to determine the ecological interactions established in dual-species biofilms between Listeria monocytogenes and Salmonella enterica as target pathogens, and isolates recovered from a meat processing facility (i.e.Pseudomonas fluorescens, Pseudomonas fragi, Bacillus safensis, Bacillus megaterium, and Candida zeylanoides). Results showed different ecological relations in biofilms depending on the species evaluated. Pseudomonas spp. did not influence the growth of either pathogen, although tested species tended to protect the pathogens in the structures generated. B. megaterium and C. zeylanoides affected the two pathogens differently, demonstrating a reduction of L. monocytogenes adhered cells within the formed biofilm. B. safensis reduced or presented non-influence on S. enterica depending on the incubation conditions. Contrarily, B. safensis was the microorganism that demonstrated the highest replacement capacity for L. monocytogenes, reducing its growth by up to 4 log CFU/cm2. The in vitro study of bispecies biofilms is important for the food industry, helping to understand how they behave and to find an effective way to eliminate them.