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<title>DME. Artículos del Departamento de Medicina</title>
<link href="http://hdl.handle.net/10366/4020" rel="alternate"/>
<subtitle/>
<id>http://hdl.handle.net/10366/4020</id>
<updated>2026-04-23T01:43:38Z</updated>
<dc:date>2026-04-23T01:43:38Z</dc:date>
<entry>
<title>Predominantly pro-inflammatory phenotype with mixed M1/M2 polarization of peripheral blood classical monocytes and monocyte-derived macrophages among patients with excessive ethanol intake</title>
<link href="http://hdl.handle.net/10366/171016" rel="alternate"/>
<author>
<name>Fernández Regueras, María</name>
</author>
<author>
<name>Carbonell Muñoz, Cristina</name>
</author>
<author>
<name>Salete Granado, Daniel</name>
</author>
<author>
<name>García Hernández, Juan Luis</name>
</author>
<author>
<name>Gragera, Marcos</name>
</author>
<author>
<name>Pérez Nieto, María de los Ángeles</name>
</author>
<author>
<name>Morán Plata, Francisco Javier</name>
</author>
<author>
<name>Mayado Colino, Andrea</name>
</author>
<author>
<name>Torres, Jorge Luis</name>
</author>
<author>
<name>Corchete, Luis Antonio</name>
</author>
<author>
<name>Usategui Martín, Ricardo</name>
</author>
<author>
<name>Bueno Martínez, Elena</name>
</author>
<author>
<name>Rojas Pirela, Maura Luna</name>
</author>
<author>
<name>Sabio, Guadalupe</name>
</author>
<author>
<name>González Sarmiento, Rogelio</name>
</author>
<author>
<name>Orfao de Matos Correia e Vale, José Alberto</name>
</author>
<author>
<name>Laso Guzmán, Francisco Javier</name>
</author>
<author>
<name>Almeida Parra, Julia María</name>
</author>
<author>
<name>Marcos Martín, Miguel</name>
</author>
<id>http://hdl.handle.net/10366/171016</id>
<updated>2026-04-18T00:00:53Z</updated>
<published>2023-09-01T00:00:00Z</published>
<summary type="text">[EN]Excessive alcohol consumption impairs the immune system, induces oxidative stress, and triggers the activation of peripheral blood (PB) monocytes, thereby contributing to alcoholic liver disease (ALD). We analyzed the M1/M2 phenotypes of circulating classical monocytes and macrophage-derived monocytes (MDMs) in excessive alcohol drinkers (EADs). PB samples from 20 EADs and 22 healthy controls were collected for isolation of CD14+ monocytes and short-term culture with LPS/IFNγ, IL4/IL13, or without stimulation. These conditions were also used to polarize MDMs into M1, M2, or M0 phenotypes. Cytokine production was assessed in the blood and culture supernatants. M1/M2-related markers were analyzed using mRNA expression and surface marker detection. Additionally, the miRNA profile of CD14+ monocytes was analyzed. PB samples from EADs exhibited increased levels of pro-inflammatory cytokines. Following short-term culture, unstimulated blood samples from EADs showed higher levels of soluble TNF-α and IL-8, whereas monocytes expressed increased levels of surface TNF-α and elevated mRNA expression of pro-inflammatory cytokines and inducible nitric oxide synthase. MDMs from EADs showed higher levels of TNF-α and CD206 surface markers and increased IL-10 production. LPS/IFNγ induced higher mRNA expression of Nrf2 only in the controls. miRNA analysis revealed a distinctive miRNA profile that is potentially associated with liver carcinogenesis and ALD through inflammation and oxidative stress. This study confirms the predominantly pro-inflammatory profile of PB monocytes among EADs and suggests immune exhaustion features in MDMs.
</summary>
<dc:date>2023-09-01T00:00:00Z</dc:date>
</entry>
<entry>
<title>Crimean-Congo hemorrhagic fever, Spain, 2013-2021</title>
<link href="http://hdl.handle.net/10366/170932" rel="alternate"/>
<author>
<name>Lorenzo Juanes, Helena Miriam</name>
</author>
<author>
<name>Carbonell Muñoz, Cristina</name>
</author>
<author>
<name>Febrer Sendra, Begoña</name>
</author>
<author>
<name>López Bernús, Amparo</name>
</author>
<author>
<name>Bahamonde, Alberto</name>
</author>
<author>
<name>Orfao de Matos Correia e Vale, José Alberto</name>
</author>
<author>
<name>Vieira Lista, María Carmen</name>
</author>
<author>
<name>Sánchez Ledesma, María</name>
</author>
<author>
<name>Negredo, Ana Isabel</name>
</author>
<author>
<name>Rodríguez Alonso, Beatriz</name>
</author>
<author>
<name>Rey Bua, Beatriz</name>
</author>
<author>
<name>Sánchez Seco, María Paz</name>
</author>
<author>
<name>Muñoz Bellido, Juan Luis</name>
</author>
<author>
<name>Muro Álvarez, Antonio</name>
</author>
<author>
<name>Belhassen García, Moncef</name>
</author>
<id>http://hdl.handle.net/10366/170932</id>
<updated>2026-04-14T00:01:12Z</updated>
<published>2023-02-02T00:00:00Z</published>
<summary type="text">[EN]Crimean-Congo hemorrhagic fever (CCHF) is a viral infectious disease for which distribution of the main vector, Hyalomma spp. ticks, is expanding. We analyzed all 10 cases of CCHF diagnosed in Spain during 2013-2021; case-patient median age was 56.5 years, and 7 were men. We identified CCHF virus genotypes III and V. Six case-patients acquired the infection in urban areas. Sixty percent of patients were infected in summer and 40% in spring. Two patients met criteria for hemophagocytic syndrome. Seven patients survived. The epidemiologic pattern of CCHF in Spain is based on occasional cases with an elevated mortality rate. Genotype III and, to a less extent also genotype V, CCHF circulates in humans in a common geographic area in Spain. Those data suggest that the expansion pathways are complex and may change over time. Physicians should remain alert to the possibility of new CCHF cases.
</summary>
<dc:date>2023-02-02T00:00:00Z</dc:date>
</entry>
<entry>
<title>Effectiveness of transcutaneous and percutaneous electrical nerve stimulation as adjunct therapies in patients after anterior cruciate ligament reconstruction: study protocol for a randomized controlled trial</title>
<link href="http://hdl.handle.net/10366/170732" rel="alternate"/>
<author>
<name>Blanco López, Luis</name>
</author>
<author>
<name>Nácher Moltò, Iván</name>
</author>
<author>
<name>Sánchez González, Juan Luis</name>
</author>
<author>
<name>Casado Gómez, Daniel</name>
</author>
<author>
<name>Cases Sebastià, Adrián</name>
</author>
<author>
<name>Reina Abellán, Javier</name>
</author>
<id>http://hdl.handle.net/10366/170732</id>
<updated>2026-03-24T01:00:31Z</updated>
<published>2026-01-26T00:00:00Z</published>
<summary type="text">[EN]Background/Objectives: Quadriceps arthrogenic muscle inhibition (AMI) represents a key impairment following anterior cruciate ligament reconstruction (ACLR), contributing to quadriceps weakness. Although transcutaneous electrical nerve stimulation (TENS) and percutaneous electrical nerve stimulation (PENS) have been primarily investigated for analgesia, their effects on quadriceps strength in the early postoperative period remain underexplored. Methods: This study describes a single-blinded, parallel-group randomized controlled trial investigating the short-term effects of a single high-frequency TENS session and a novel long-term potentiation (LTP) PENS protocol on quadriceps strength and related clinical outcomes after ACLR. Fifty-four participants will be randomly allocated using block randomization in a 1:1:1 ratio to one of three groups: a control group (conventional post-ACLR rehabilitation only), a TENS group (conventional rehabilitation plus a single high-frequency TENS session), or a PENS group (conventional rehabilitation plus a single LTP PENS session). Participants will receive neuromodulatory intervention during the sixth postoperative week. The LTP PENS protocol consists of five 5 s stimulation bursts at 100 Hz and 250 μs pulse width and has only been investigated once in patients with upper limb pathology, underscoring its novelty in a postoperative setting. Results: The primary outcome is quadriceps maximal voluntary isometric contraction, selected as a clinically relevant surrogate of quadriceps activation deficits associated with AMI. Secondary outcomes include pain intensity, pressure pain threshold, knee range of motion, thigh muscle perimeter, knee effusion and swelling, and self-reported function and knee-related quality of life. Outcomes will be assessed at baseline, immediately post-treatment, and 1 and 7 days post-intervention by a blinded assessor.
</summary>
<dc:date>2026-01-26T00:00:00Z</dc:date>
</entry>
<entry>
<title>A pilot randomized trial of supervised resistance training plus home-based activity in chronic lymphocytic leukaemia patients</title>
<link href="http://hdl.handle.net/10366/170731" rel="alternate"/>
<author>
<name>Sánchez González, Juan Luis</name>
</author>
<author>
<name>Fernández Rodríguez, Eduardo José</name>
</author>
<author>
<name>Méndez Sánchez, Roberto</name>
</author>
<author>
<name>Polo Ferrero, Luis</name>
</author>
<author>
<name>Puente-González, Ana Silvia</name>
</author>
<author>
<name>Ramón Sánchez, Cristina de</name>
</author>
<author>
<name>Marcos Asensio, Sara</name>
</author>
<author>
<name>Blázquez Benito, Patricia</name>
</author>
<author>
<name>Baile-González, Mónica</name>
</author>
<author>
<name>Navarro Bailón, Almudena</name>
</author>
<author>
<name>Sánchez Guijo Martín, Fermín</name>
</author>
<author>
<name>Martín Vallejo, Francisco Javier</name>
</author>
<author>
<name>Pérez Sanchez-Toledo, Jesús</name>
</author>
<author>
<name>Martín Sánchez, Carlos</name>
</author>
<id>http://hdl.handle.net/10366/170731</id>
<updated>2026-03-24T01:00:36Z</updated>
<published>2026-02-08T00:00:00Z</published>
<summary type="text">[EN]Chronic lymphocytic leukaemia (CLL) is frequently associated with frailty, impaired physical function, and reduced quality of life. Evidence on the role of exercise in this population is limited. This pilot randomised clinical trial evaluated the effects of a supervised resistance training programme, combined with a home-based physical activity plan, on frailty, body composition, strength, fatigue, quality of life, and mental health in patients with CLL receiving active treatment. Thirty-six patients were randomised to either a home-based physical activity group plus a supervised resistance training programme group (n = 18) or a home-based physical activity group (n = 14) for eight weeks. The primary outcome was frailty assessed with the Short Physical Performance Battery. Secondary outcomes included body composition, grip strength, fatigue, quality of life, anxiety and depression, and sleep quality. Non-parametric analyses were performed, and effect sizes calculated. No differences between-group were found in frailty. However, participants in the supervised group showed significant improvements in lean mass (p = 0.047), dominant hand grip strength (p = 0.004), cognitive fatigue (p = 0.008), and sleep disturbance (p = 0.010). Effect sizes were moderate for anxiety and sleep quality, and small for depression. Adherence exceeded 80% in both groups, and no adverse events related to exercise were reported. Supervised resistance training combined with home-based physical activity is feasible, safe, and well tolerated in patients with CLL. The intervention was associated with preliminary improvements in muscle mass, strength, fatigue, and sleep-related outcomes. Larger and longer trials are needed to confirm these findings.
</summary>
<dc:date>2026-02-08T00:00:00Z</dc:date>
</entry>
<entry>
<title>Mirror therapy versus motor imagery in stroke neurorehabilitation: A systematic review with comparative narrative synthesis</title>
<link href="http://hdl.handle.net/10366/170730" rel="alternate"/>
<author>
<name>Polo Ferrero, Luis</name>
</author>
<author>
<name>Torres Alonso, Javier</name>
</author>
<author>
<name>Sánchez González, Juan Luis</name>
</author>
<author>
<name>Hernández Rubia, Sara</name>
</author>
<author>
<name>Dávila Marcos, Arturo</name>
</author>
<author>
<name>Agudo Juan, María</name>
</author>
<author>
<name>Oltra Cucarella, Javier</name>
</author>
<author>
<name>Pérez Elvira, Rubén</name>
</author>
<id>http://hdl.handle.net/10366/170730</id>
<updated>2026-03-24T01:00:40Z</updated>
<published>2026-02-10T00:00:00Z</published>
<summary type="text">[EN]Background: Motor imagery (MI) and mirror therapy (MT) are widely used neurorehabilitation strategies to enhance motor recovery after stroke and are commonly applied as adjuncts to conventional rehabilitation therapy (CRT). However, direct comparative evidence between these interventions remains limited. This systematic review compared the effects of MI and MT on motor function, functional performance, spasticity, and gait-related outcomes in adults after stroke. Methods: A systematic comparative review with narrative synthesis was conducted following PRISMA guidelines and registered in PROSPERO (CRD420251274308). PubMed, Cochrane Library, CINAHL, Scopus, Web of Science, and ScienceDirect were searched up to July 2025. Clinical trials directly comparing MI and MT in adults with stroke were included. Methodological quality was assessed using the PEDro scale, and risk of bias was evaluated with the Cochrane RoB 2 tool. Results: Six clinical trials involving 206 participants were included. Both MI and MT were associated with significant pre-post improvements across motor function, functional performance, spasticity, and gait-related outcomes. Between-group comparisons yielded heterogeneous findings, with no consistent evidence supporting the superiority of either intervention. Isolated advantages of MI were reported for specific upper-limb subdomains, but these effects were not consistently replicated. Overall methodological quality ranged from low to moderate, and all included studies were judged to be at high risk of bias according to the RoB 2 tool. Conclusions: MI and MT appear to provide comparable benefits for motor and functional recovery after stroke when used as adjuncts to CRT. Current evidence does not support the preferential use of one intervention, highlighting the need for well-designed trials with improved methodological rigor.
</summary>
<dc:date>2026-02-10T00:00:00Z</dc:date>
</entry>
<entry>
<title>Relationship between anxiety symptoms and cervical motor control in individuals without diagnosed psychiatric or neurological disorders</title>
<link href="http://hdl.handle.net/10366/170714" rel="alternate"/>
<author>
<name>Calleja Caballero, Andrea</name>
</author>
<author>
<name>Sánchez González, Juan Luis</name>
</author>
<author>
<name>Gómez Mateos, Marta</name>
</author>
<author>
<name>Santos Rodríguez, Vanesa</name>
</author>
<author>
<name>Pérez, Jesús</name>
</author>
<author>
<name>Pérez Robledo, Fátima</name>
</author>
<id>http://hdl.handle.net/10366/170714</id>
<updated>2026-03-21T01:01:05Z</updated>
<published>2026-02-25T00:00:00Z</published>
<summary type="text">[EN]Objectives: This study aimed to explore the association between anxiety symptoms and cervical motor control in individuals without diagnosed psychiatric or neurological disorders.&#13;
&#13;
Methods: A cross-sectional study was conducted with 101 participants aged 18-60 without diagnosed psychiatric or neurological disorders. Anxiety levels were assessed using the Hamilton Anxiety Rating Scale (HAM-A), a clinician-oriented measure applied here to a non-clinical sample, and severity cut-offs were interpreted cautiously. Cervical motor control was measured using the Head Repositioning Accuracy-to-Target test. Additional clinical variables such as vertigo, cervical pain, and headache were also recorded. Statistical analyses included Spearman correlations, multiple linear and logistic regressions.&#13;
&#13;
Results: Higher anxiety levels were significantly associated with increased angular error in cervical motor control, particularly in flexion, extension, and right rotation movements. A progressive increase in pain perception and motor dysfunction was observed in participants with moderate and severe anxiety. Multivariate analyses showed that cervical motor control errors and vertigo were independently associated with anxiety severity and clinically significant anxiety.&#13;
&#13;
Conclusion: Our findings revealed an association between anxiety symptoms and cervical sensorimotor disturbances in individuals without diagnosed psychiatric or neurological disorders. Given the cross-sectional design, these findings should be interpreted as observational and exploratory.
</summary>
<dc:date>2026-02-25T00:00:00Z</dc:date>
</entry>
<entry>
<title>Stroke neurorehabilitation and the role of motor imagery training: Do ARAT and Barthel index improvements support Its clinical use? A systematic review and meta-analysis</title>
<link href="http://hdl.handle.net/10366/170708" rel="alternate"/>
<author>
<name>Polo Ferrero, Luis</name>
</author>
<author>
<name>Torres Alonso, Javier</name>
</author>
<author>
<name>Sánchez González, Juan Luis</name>
</author>
<author>
<name>Hernández Rubia, Sara</name>
</author>
<author>
<name>Agudo Juan, María</name>
</author>
<author>
<name>Pérez-Elvira, Rubén</name>
</author>
<author>
<name>Oltra Cucarella, Javier</name>
</author>
<id>http://hdl.handle.net/10366/170708</id>
<updated>2026-03-21T01:00:50Z</updated>
<published>2026-01-15T00:00:00Z</published>
<summary type="text">[EN]Background and Objectives: Although several meta-analyses have evaluated the effects of motor imagery (MI) on upper-limb recovery using the Fugl-Meyer Assessment for the Upper Extremity (FM-UE), evidence based on more specific (Action Research Arm Test, ARAT) and functional (Barthel Index, BI) outcomes remains scarce. This study examined the effect of MI combined with conventional rehabilitation therapy (CRT), which translates into meaningful improvements in upper-limb performance and functional independence after stroke, accounting for methodological quality and publication bias. Materials and Methods: A systematic review and meta-analysis were carried out in accordance with PRISMA recommendations, with prior registration in PROSPERO (CRD420251120044). Comprehensive searches were conducted across six electronic databases up to July 2025. The methodological rigor of the included studies was evaluated using the PEDro scale, and risk of bias was appraised with the Cochrane RoB 2 instrument. Random-effects models estimated pooled effect sizes (ESs) for the ARAT and BI, alongside analyses of heterogeneity, publication bias, and moderators. Results: Eleven RCTs (n = 425) were included. A small pooled improvement in ARAT was observed (ES = 0.25; 95% CI: 0.13-0.37; p &lt; 0.001); however, this effect was rendered non-significant after correction for publication bias (ES = 0.08; 95% CI: -0.14-0.31). No significant differences were found for the BI (ES = 0.41; 95% CI: -0.35-1.18; p = 0.268), with substantial heterogeneity (I2 = 96.6%). The mean PEDro score was 6.6, indicating moderate methodological quality. Conclusions: MI combined with CRT yields small and inconsistent effects on upper-limb recovery and no improvement in functional independence. Current evidence does not support its routine use in stroke rehabilitation. Well-designed, adequately powered randomized controlled trials employing standardized MI protocols are required to determine its true clinical relevance.
</summary>
<dc:date>2026-01-15T00:00:00Z</dc:date>
</entry>
<entry>
<title>Impact of ostomy on quality of life in patients with colorectal cancer: A systematic review and meta-analysis</title>
<link href="http://hdl.handle.net/10366/170707" rel="alternate"/>
<author>
<name>Díaz Sánchez, Cristina</name>
</author>
<author>
<name>Rodríguez Muñoz, Pedro Manuel</name>
</author>
<author>
<name>Navarro López, Víctor</name>
</author>
<author>
<name>Carmona Torres, Juan Manuel</name>
</author>
<author>
<name>Sánchez-Gil, Alba</name>
</author>
<author>
<name>Sánchez González, Juan Luis</name>
</author>
<author>
<name>Rivera-Picón, Cristina</name>
</author>
<id>http://hdl.handle.net/10366/170707</id>
<updated>2026-03-21T01:00:58Z</updated>
<published>2026-02-10T00:00:00Z</published>
<summary type="text">[EN]Background/Objectives: This systematic review and meta-analysis evaluate the impact of ostomy on quality of life in patients with colorectal cancer, synthesizing evidence from case-control and interventional studies, and to assess the consistency, robustness, and clinical implications of the findings. Methods: A systematic search of PubMed, Web of Science, Scopus, and the Cochrane Library was conducted for studies published up to 21 September 2025. Eligibility criteria encompassed cases-control studies comparing ostomized versus non-ostomized colorectal cancer patients and interventional studies assessing quality of life before and after ostomy creation. Data extraction included study design, population characteristics, quality of life outcomes, and main findings. Results: A total of 5841 records were identified, with 71 full-text articles assessed and six studies meeting inclusion criteria. The random-effects meta-analysis using the REML estimator yielded a pooled effect size of -0.29 (95% CI: -0.38 to -0.20; p &lt; 0.001), indicating significantly lower quality of life in ostomized patients. No heterogeneity was observed (τ2 = 0; I2 = 7%). Quality assessment indicated that 66.7% of studies were high quality and 33.3% intermediate. Sensitivity analyses confirmed robustness, as exclusion of influential studies did not alter results. Conclusions: Ostomy significantly reduces quality of life in colorectal cancer patients. Psychosocial and emotional challenges, including body image concerns and social limitations, contribute to this impact. These findings emphasize the need for comprehensive care and targeted interventions to enhance adaptation, social reintegration, and overall well-being in ostomized patients.
</summary>
<dc:date>2026-02-10T00:00:00Z</dc:date>
</entry>
<entry>
<title>Exposure and predictive factors of postural development from the perspective of the reliability of their measurement tools: A systematic review</title>
<link href="http://hdl.handle.net/10366/170705" rel="alternate"/>
<author>
<name>Mirón Pérez, Tania</name>
</author>
<author>
<name>Sánchez González, Juan Luis</name>
</author>
<author>
<name>Navarro-López, Victor</name>
</author>
<author>
<name>Menéndez Pardiñas, Mónica</name>
</author>
<author>
<name>Sanz Esteban, I.</name>
</author>
<id>http://hdl.handle.net/10366/170705</id>
<updated>2026-03-21T01:00:56Z</updated>
<published>2026-01-03T00:00:00Z</published>
<summary type="text">[EN]Postural alignment can be influenced by intrinsic and extrinsic factors; failure to control these confounding factors and the use of invalid tools increase the risk of bias and may distort the results. Objective: The first objective is to identify the confounding factors that may influence the evaluation of body posture in children. The second objective is to determine which methods or tools are used to analyze postural alignment and to review the evidence regarding their validity and reliability, in order to strengthen the credibility of the results obtained. Methods: A systematic review was performed following the PRISMA 2020 criteria. Eligible studies were searched in the Virtual Health Library, Scopus, Medline, Web of Science, PEDro, and the Cochrane Library throughout the entire month of December 2024. Observational studies written in English, Portuguese, or Spanish that analyzed body posture (as the dependent variable) in children under 12 years of age were included. Articles not available in full text or those that assessed only a single body region were excluded. The methodological quality of the studies was assessed using the Newcastle-Ottawa scale, while the ROBINS-E tool was used to assess risk of bias. The synthesis of results was presented as a narrative review. Results: A total of 42 observational articles were included. No meta-analysis was conducted, and the findings are synthesized through a narrative review. The ROBINS-E tool showed a generalized result of high risk of bias, while the Newcastle-Ottawa scale reported moderate quality for longitudinal and case-control studies, with worse scores for cross-sectional studies. Methodological limitations: The differences found in the designs, population, and outcome measures generate high methodological variability that limits the possibility of quantitative synthesis. Likewise, the available evidence on the reliability of the tools is insufficient, which conditions the interpretation of the reported results. Conclusions: The findings with the strongest scientific support suggest that anthropometric variables or those related to body composition may be associated with body alignment. By contrast, there is still controversy regarding the influence of sex and age on postural variables. Sport modality or the weight of the school backpack could also play a role in posture; however, more high-quality studies are needed to contrast the results. The quality of the evidence is limited by heterogeneity in study designs, insufficient control of confounding factors, and the use of tools with inadequate validity and reliability. Other: The study was registered in PROSPERO under the number CRD42024618753. This research received no external funding.
</summary>
<dc:date>2026-01-03T00:00:00Z</dc:date>
</entry>
<entry>
<title>242P Reclassification of variants of unknown significance in BRCA 1/2 genes for the improvement of care quality in oncological genetic council units</title>
<link href="http://hdl.handle.net/10366/170569" rel="alternate"/>
<author>
<name>Olivares Hernández, Alejandro</name>
</author>
<author>
<name>Vidal Tocino, María del Rosario</name>
</author>
<author>
<name>Figuero Pérez, Luis</name>
</author>
<author>
<name>Escala Cornejo, R.A.</name>
</author>
<author>
<name>Martín Gómez, María Teresa</name>
</author>
<author>
<name>Sánchez Tapia, E.M.</name>
</author>
<author>
<name>Pérez García, J.</name>
</author>
<author>
<name>Claros Ampuero, J.</name>
</author>
<author>
<name>Escalera Martín, E.</name>
</author>
<author>
<name>Terán Brage, Eduardo</name>
</author>
<author>
<name>López Gutiérrez, Á.</name>
</author>
<author>
<name>Barrios Collado, B.</name>
</author>
<author>
<name>Rodríguez Sáchez, C.A.</name>
</author>
<author>
<name>Amores Martín, A.</name>
</author>
<author>
<name>Muñoz García, M.</name>
</author>
<author>
<name>Gonzalez Sarmiento, R.</name>
</author>
<author>
<name>Cruz Hernández, J.J.</name>
</author>
<id>http://hdl.handle.net/10366/170569</id>
<updated>2026-04-08T11:35:55Z</updated>
<published>2020-09-01T00:00:00Z</published>
<summary type="text">[ES]La comunicación aborda el problema asistencial que generan las variantes de significado incierto identificadas en BRCA1 y BRCA2, dado que limitan la utilidad clínica del test genético en cáncer hereditario al no poder traducirse en recomendaciones claras de manejo. Se recopilaron las variantes detectadas en la Unidad de Consejo Genético del Hospital Universitario de Salamanca entre 2000 y 2023 y se procedió a su reevaluación mediante los agregadores VarSome y ClinVar, basados en criterios ACMG AMP. En el periodo analizado se identificaron 79 variantes inicialmente clasificadas como VUS en más de 2000 estudios, mayoritariamente missense, observándose que una proporción relevante pudo reclasificarse, aunque con discrepancias entre plataformas.
</summary>
<dc:date>2020-09-01T00:00:00Z</dc:date>
</entry>
<entry>
<title>P-210 Germline testing in pancreatic adenocarcinoma</title>
<link href="http://hdl.handle.net/10366/170470" rel="alternate"/>
<author>
<name>Terán Brage, Eduardo</name>
</author>
<author>
<name>Sánchez Tapia, Eva María</name>
</author>
<author>
<name>Vidal Tocino, María del Rosario</name>
</author>
<author>
<name>Pérez García, Jessica</name>
</author>
<author>
<name>López Gutiérrez, Álvaro</name>
</author>
<author>
<name>Navarro Martín, Luis Miguel</name>
</author>
<author>
<name>Martín Gómez, María Teresa</name>
</author>
<author>
<name>González Sarmiento, Rogelio</name>
</author>
<author>
<name>Seijas Tamayo, Raquel</name>
</author>
<author>
<name>Cruz Hernández, Juan Jesús</name>
</author>
<author>
<name>Fonseca Sánchez, Emilio</name>
</author>
<id>http://hdl.handle.net/10366/170470</id>
<updated>2026-04-09T09:27:38Z</updated>
<published>2022-06-01T00:00:00Z</published>
<summary type="text">[ES]El trabajo presenta un estudio descriptivo y retrospectivo orientado a estimar la frecuencia de alteraciones germinales en genes de reparación del ADN en el adenocarcinoma ductal de páncreas, y a valorar la utilidad de la historia familiar como criterio de apoyo para indicar test genético. Se revisan los estudios realizados en la Unidad de Consejo Genético de Salamanca entre 2004 y 2022, incluyendo, por un lado, 30 casos índice con diagnóstico de PDAC y, por otro, 96 personas con cáncer y antecedente de primer grado de cáncer de páncreas. La determinación de BRCA1/2 y, en una parte de la muestra, paneles multigénicos se efectuó en sangre periférica mediante técnicas de secuenciación masiva. En los casos índice con PDAC se identifican variantes patogénicas en un 13,3%, concretamente en BRCA2 y PALB2, además de variantes de significado incierto en BRCA1/2. En el grupo con antecedente familiar de primer grado se detectan variantes patogénicas en un 7,3% (principalmente BRCA1, además de BRCA2 y CHEK2) y un porcentaje relevante de VUS, que incluye hallazgos en genes adicionales relacionados con reparación del ADN. El resumen interpreta, a partir de estos resultados, que aproximadamente en torno a un 10% de los casos de PDAC podría vincularse a predisposición hereditaria y que el test germinal de BRCA y otros genes implicados en deficiencia de recombinación homóloga puede tener impacto clínico por su relación con estrategias terapéuticas dirigidas y medicina de precisión, además de implicaciones familiares. No se declara financiación ni conflictos de interés.
</summary>
<dc:date>2022-06-01T00:00:00Z</dc:date>
</entry>
<entry>
<title>Rectal adenocarcinoma in Brca 2 carrier  case report</title>
<link href="http://hdl.handle.net/10366/170427" rel="alternate"/>
<author>
<name>Redondo González, Juan Carlos</name>
</author>
<author>
<name>Martín Gómez, María Teresa</name>
</author>
<author>
<name>Sánchez Tapia, Eva María </name>
</author>
<author>
<name>Posado Domínguez, Luis</name>
</author>
<author>
<name>Díaz Sánchez, Pablo</name>
</author>
<author>
<name>Morchón Araujo, Daniel</name>
</author>
<author>
<name>Barco Morillo, Edel del</name>
</author>
<author>
<name>Fonseca Sánchez, Emilio</name>
</author>
<id>http://hdl.handle.net/10366/170427</id>
<updated>2026-03-12T01:01:54Z</updated>
<published>2024-01-04T00:00:00Z</published>
<summary type="text">[ES]El artículo describe un caso clínico infrecuente de adenocarcinoma de recto en un varón de 64 años portador de una mutación germinal patogénica en BRCA2, en el contexto de una historia familiar con múltiples casos de cáncer de mama y portadores identificados. El cuadro se inició con clínica digestiva leve y confirmación endoscópica e histológica de adenocarcinoma rectal localmente avanzado, con estadificación por resonancia magnética compatible con cT3 4 N1 y ausencia de metástasis en el estudio de extensión. Se administró tratamiento neoadyuvante con capecitabina concomitante con radioterapia, seguido de resección anterior laparoscópica con resección completa, con respuesta patológica favorable (ypT1N0). Posteriormente se completó quimioterapia adyuvante con capecitabina y oxaliplatino y, tras seguimiento prolongado, se documenta mantenimiento de respuesta completa sin recaída hasta la última revisión referida. El caso se utiliza para discutir la evidencia contradictoria sobre el riesgo de cáncer colorrectal en portadores de BRCA, con especial énfasis en la incertidumbre existente para BRCA2 y en la hipótesis de que podría existir una oportunidad de cribado o de vigilancia reforzada en determinados subgrupos, pese a que la relación no se considera aún concluyente
</summary>
<dc:date>2024-01-04T00:00:00Z</dc:date>
</entry>
<entry>
<title>BN 52021 (a platelet activating factor‐receptor antagonist) decreases alveolar macrophage‐mediated lung injury in experimental extrinsic allergic alveolitis</title>
<link href="http://hdl.handle.net/10366/170380" rel="alternate"/>
<author>
<name>Pérez Arellano, J. L.</name>
</author>
<author>
<name>Martín Gómez, María Teresa</name>
</author>
<author>
<name>López Novoa, José Miguel</name>
</author>
<author>
<name>Sánchez, M. L.</name>
</author>
<author>
<name>Montero, A.</name>
</author>
<author>
<name>Jiménez, A.</name>
</author>
<id>http://hdl.handle.net/10366/170380</id>
<updated>2026-03-11T01:02:05Z</updated>
<published>1998-01-01T00:00:00Z</published>
<summary type="text">[ES]El estudio analiza el efecto del antagonista del receptor del factor activador plaquetario (PAF), BN 52021, sobre la formación de granulomas en un modelo murino de esquistosomiasis por Schistosoma mansoni. Mediante la administración del fármaco en ratones infectados se evaluó el tamaño de los granulomas hepáticos y la respuesta inflamatoria asociada. Los resultados muestran una reducción significativa del tamaño de los granulomas en los animales tratados en comparación con los controles, lo que sugiere que el PAF desempeña un papel relevante en los mecanismos inflamatorios implicados en la formación de granulomas durante la infección por S. mansoni.
</summary>
<dc:date>1998-01-01T00:00:00Z</dc:date>
</entry>
<entry>
<title>Comparison and variation of different methodologies for the detection of autoantibodies to nuclear antigens (ANA)</title>
<link href="http://hdl.handle.net/10366/170376" rel="alternate"/>
<author>
<name>González, Concepción</name>
</author>
<author>
<name>Martín Gómez, María Teresa</name>
</author>
<author>
<name>Arroyo, Tomás</name>
</author>
<author>
<name>García-Isidoro, María</name>
</author>
<author>
<name>Navajo, José A.</name>
</author>
<author>
<name>González-Buitrago, José M</name>
</author>
<id>http://hdl.handle.net/10366/170376</id>
<updated>2026-03-10T01:02:22Z</updated>
<published>1997-01-01T00:00:00Z</published>
<summary type="text">[ES]Se compara la concordancia entre cuatro métodos comerciales para la detección y caracterización de autoanticuerpos frente a antígenos nucleares extractables en sueros previamente positivos por inmunofluorescencia indirecta sobre células Hep-2. Se evalúan CIE, ELISA y dos plataformas de inmunoblot, cuantificando el grado de acuerdo mediante el estadístico kappa. Se observa buena concordancia para anti-SS-B entre métodos, acuerdo moderado para anti-RNP según combinaciones específicas, consistencia completa entre CIE y ELISA para anti-Scl-70 en los casos detectados, y baja concordancia para anti-SS-A pese a su alta prevalencia, poniendo de relieve que la metodología influye de forma sustantiva en la asignación de especificidades.
</summary>
<dc:date>1997-01-01T00:00:00Z</dc:date>
</entry>
<entry>
<title>Hydrolytic enzyme of the alveolar macrophage in diffuse pulmonary interstitial disease</title>
<link href="http://hdl.handle.net/10366/170375" rel="alternate"/>
<author>
<name>Pérez Arellano, J. L.</name>
</author>
<author>
<name>Barrios, M. N.</name>
</author>
<author>
<name>Martín Gómez, María Teresa</name>
</author>
<author>
<name>Sánchez, M. L.</name>
</author>
<author>
<name>Jiménez, A.</name>
</author>
<author>
<name>González Buitrago, J. M.</name>
</author>
<id>http://hdl.handle.net/10366/170375</id>
<updated>2026-03-10T01:02:24Z</updated>
<published>1996-01-01T00:00:00Z</published>
<summary type="text">[ES]Se evalúa la actividad intracelular asociada a macrófagos alveolares de varias enzimas hidrolíticas relevantes en la fisiopatología de las enfermedades intersticiales pulmonares difusas, comparando controles con cinco entidades representativas (sarcoidosis, alveolitis alérgica extrínseca, fibrosis pulmonar idiopática, infiltración neoplásica pulmonar y neumonía por Pneumocystis carinii). Las células se obtienen mediante lavado broncoalveolar, se cuantifican las poblaciones celulares del lavado y se determinan actividades enzimáticas estandarizadas. El patrón principal descrito es un aumento marcado de varias actividades enzimáticas en sarcoidosis activa, mientras que en la alveolitis alérgica extrínseca las actividades intracelulares son similares a las del grupo control, lo que se interpreta como indicio de mecanismos distintos de activación y, potencialmente, de liberación extracelular de enzimas en determinadas entidades.
</summary>
<dc:date>1996-01-01T00:00:00Z</dc:date>
</entry>
<entry>
<title>Role of lysosomal enzymes released by alveolar macrophages in the pathogenesis of the acute phase of hypersensitivity pneumonitis</title>
<link href="http://hdl.handle.net/10366/170362" rel="alternate"/>
<author>
<name>Pérez Arellano, J. L.</name>
</author>
<author>
<name>Barrios, M. N.</name>
</author>
<author>
<name>Martín Gómez, María Teresa</name>
</author>
<author>
<name>Sánchez, M. L.</name>
</author>
<author>
<name>González Buitrago, J. M.</name>
</author>
<author>
<name>Jiménez, A.</name>
</author>
<id>http://hdl.handle.net/10366/170362</id>
<updated>2026-03-10T01:02:23Z</updated>
<published>1995-01-01T00:00:00Z</published>
<summary type="text">[ES]Se evalúa, en un modelo experimental de neumonitis por hipersensibilidad en cobaya inducida por Faenia rectivirgula, el papel de las enzimas lisosomales de los macrófagos alveolares en la fase aguda de la lesión pulmonar. Los resultados muestran un descenso de la actividad enzimática intracelular en los macrófagos alveolares durante la fase aguda, acompañado de un aumento de actividad enzimática extracelular en el lavado broncoalveolar, lo que sugiere liberación de enzimas al medio como mecanismo parcial del descenso intracelular. Se observa además una correlación positiva, aunque modesta, entre la actividad lisosomal extracelular y varios índices de lesión pulmonar (índice pulmonar, proteínas en BALF, LDH y fosfatasa alcalina), apoyando que la liberación de enzimas contribuye a la lesión, sin ser necesariamente el único factor implicado.
</summary>
<dc:date>1995-01-01T00:00:00Z</dc:date>
</entry>
</feed>
