Efecto perjudicial de la pandemia por SARS-CoV-2 en la sintomatología digestiva en pacientes con síndrome de intestino irritable / Detrimental impact of SARS-CoV-2 pandemic in the symptomatology of patients with irritable bowel syndrome

Irritable Bowel Syndrome (IBS) is a more frequent disorder in the brain-gut axis interaction in the world. COVID-19 has affected the population's mental health, and its impact on clinical severity in patients with IBS is unknown. Objective: To evaluate the effect of psychosocial stress produced by the pandemic on the severity of gastrointestinal symptoms. Methodology: 54 women and three men with IBS were interviewed by telephone. Factors associated with quality of life, comorbidities, IBS subtype, and COVID-19 diagnosis were asked. Calls were developed between June 2020 to January 2021. Results: 75% had Diarrheal IBS (IBS-D), 67% had comorbidities, 47% with busy work, and 70% in person, five patients (9%) were diagnosed with COVID-19. Of the total, 88% referred to change in gastrointestinal symptoms, 56% increased abdominal pain, and 95% bloating. Abdominal pain was negatively associated with quality of life (p < 0.036), and the incomplete evacuation's sensation positively with difficulty sleeping (p < 0.034). Conclusion: In this study, IBS patients interviewed by telephone reported higher abdominal pain and subjective bloating associated with the pandemic by SARS-CoV-2. Keywords: Irritable

El Síndrome de Intestino Irritable (SII) es uno de los trastornos en la interacción cerebrointestino más frecuentes en el mundo. La pandemia COVID-19 ha afectado la salud mental de la población, siendo desconocido su impacto en la severidad clínica en pacientes con SII. Objetivo: Evaluar el efecto del estrés psicosocial producido por la pandemia en la severidad de síntomas gastrointestinales de pacientes con SII. Metodología: 54 mujeres y 3 hombres con SII fueron entrevistados vía telefónica. Se preguntó por factores asociados a calidad de vida, comorbilidades, subtipo de SII y diagnóstico de COVID-19. Las llamadas se realizaron entre junio de 2020 hasta enero de 2021. Resultados: Un 75% presentó SII Diarreico (SII-D), el 67% comorbilidades, el 47% con trabajo activo y 70% presencial, 5 pacientes (9%) diagnosticados COVID-19. Del total, 88% refirió cambio en síntomas gastrointestinales, 56% aumentó el dolor abdominal y 95% la distensión abdominal. El dolor abdominal se asoció negativamente con la calidad de vida (p < 0,036), y la sensación de evacuación incompleta positivamente con la dificultad para dormir (p < 0,034). Conclusión: En este estudio, los pacientes con SII entrevistados vía telefónica reportaron mayor dolor y distensión abdominal subjetiva asociado a la pandemia por SARS-CoV-2.

Neoadjuvant chemotherapy in locally advanced colon cancer: a systematic review.

BACKGROUND: Preoperative or neoadjuvant chemotherapy (NAC) has emerged as a novel alternative to treat locally advanced colon cancer (LACC), as in other gastrointestinal malignancies. However, evidence of its efficacy and safety has not yet been gathered in the literature. The aim of the present study was to perform an extensive review of the scientific evidence for NAC in patients with LACC. METHODS: PubMed, EMBASE, MEDLINE and Cochrane Library were searched for a systematic review of the literature from 2010 to 2019. Six eligible studies were included, with a total of 27,937 patients, 1232 of them (4.4%) treated with NAC. There were only one randomized controlled trial, three phase II non-randomized single arm studies and two retrospective studies. RESULTS: The baseline computed tomography scan showed that most of patients had a T3 tumor. The completion rate of the planned neoadjuvant treatment ranged from 52.5 to 93.8%. Between 97.2 and 100% of patients had the scheduled surgery. The median tumor volume reduction after NAC ranged from 62.5 to 63.7%. The anastomotic leak rate in the NAC group ranged from 0 to 7%, with no cases of postoperative mortality. There was major pathological tumor regression in 4-34.7% of cases. Between 84 and 100% of NAC patients had R0-surgery. Survival after NAC seems to be encouraging although significant improvement has only been proven in T4b tumours. CONCLUSIONS: According to our systematic review, the NAC may be a safe and effective emerging therapeutic alternative for treating LACC. This approach, which is still being tested, increases the reliance on accurate radiological staging.

Análisis de la distribución del tiempo en materia de cuidado crítico por profesionales de enfermería mediante TISS-28 / Analysis of the distribution of time in critical care by nursing professionals using TISS-28 / Análise da distribuição do tempo em cuidados intensivos por profissionais de enfermagem usando o TISS-28

RESUMEN Introducción: Hoy en día, las intervenciones terapéuticas son más especializadas y complejas. Se ha identificado que el Therapeutic Intervention Scoring System-28 (TISS-28) es un instrumento adecuado para planear las actividades de enfermería. Objetivo: Determinar mediante la aplicación del instrumento TISS-28 el grado de complejidad de las intervenciones realizadas al brindar cuidados de enfermería a pacientes en estado crítico. Métodos: Estudio descriptivo, 270 pacientes (adultos, pediátricos y neonatales) en estado crítico; se recabó información sociodemográfica tanto del personal de enfermería como de los pacientes a través de un instrumento, se aplicó el TISS-28 para identificar el grado de complejidad de las intervenciones que se le brindaron al paciente. El análisis estadístico fue descriptivo para variables sociodemográficas y laborales, para las acciones realizadas por enfermería mediante niveles de grados de complejidad se hizo uso del análisis bivariado y la regresión logística. Resultados: Las intervenciones brindadas por el personal de enfermería en el servicio de medicina interna en el Grado II es de 9.8 veces más que en el resto de los pacientes, grado III aumenta 68 veces cuando el paciente tiene una sobre estancia hospitalaria. Discusión: Los pacientes que se encuentran en los servicios de cuidados intensivos o quirúrgicos requieren mayores cuidados. Conclusión: El TISS-28 permite predecir el estado del paciente crítico y su evolución. Determina el tiempo de atención requerido según la gravedad de este, además facilita la asignación idónea de enfermera-paciente.

ABSTRACT Introduction: Currently, therapeutic interventions have become more complex and specialized, but the Therapeutic Intervention Scoring System-28 (TISS-28) has been identified as an adequate tool in the planning of the corresponding nursing activities. Objective: To estimate through the Therapeutic Intervention Scoring System-28 (TISS-28) the degree of complexity of the necessary nursing interventions to provide care to patients in critical status. Methods: This is a descriptive study on 270 adult, pediatric, and neonatal patients in critical status. The TISS-28, and nursing and patient sociodemographic instruments were used. A descriptive statistical analysis using the sociodemographic and work-related variables was carried out. Bi-variate analysis and logistic regression were calculated in order to analyze the nursing performance by levels of complexity. Results: The interventions provided by the nursing staff in the internal medicine service in Grade II is 9.8 times more than in the rest of the patients, grade III increases by 68 times when the patient has an excess hospital stay. Discussion: Patients in the intensive care or surgical services require more care. Conclusion: The TISS-28 offers an estimate on the evolution and attention time required by patients in critical status as well as the corresponding ideal nurse-patient ratios.

RESUMO Introdução: Atualmente as intervenções terapêuticas são mais especializadas e complexas, identificou-se que o Therapeutic Intervention Scoring System-28 (TISS-28) é um instrumento adequado para planejar as atividades de enfermagem. Objetivo: Determinar mediante a aplicação do instrumento TISS-28, o grau de complexidade das intervenções realizadas na assistência de cuidados de enfermagem a pacientes em estado crítico. Métodos: Estudo descritivo, 270 pacientes (adultos, pediátricos e neonatais) em estado crítico; foi coletada informação sociodemográfica tanto do pessoal de enfermagem quanto dos pacientes através de um instrumento, aplicou-se o TISS-28 para identificar o grau de complexidade das intervenções que foram prestadas ao paciente. A análise estatística foi descritiva para variáveis sociodemográficas e laborais; a análise bivariada e a regressão logística foi utilizada para as ações realizadas por enfermagem mediante níveis de graus de complexidade. Resultados: As intervenções realizadas pela equipe de enfermagem no serviço de clínica médica do Grau II são 9,8 vezes mais do que no restante dos pacientes, o grau III aumenta em 68 vezes quando o paciente tem um tempo de internação excessivo. Discussão: Os pacientes que se encontram nos serviços de cuidados intensivos ou cirúrgicos requerem maiores cuidados. Conclusão: O TISS-28 permite prever do estado do paciente crítico e sua evolução. Determina o tempo de atenção requerido conforme a gravidade deste, aliás facilita a atribuição idónea de enfermeira-paciente.

4-Deoxyphorbol inhibits HIV-1 infection in synergism with antiretroviral drugs and reactivates viral reservoirs through PKC/MEK activation synergizing with vorinostat.

Latent HIV reservoirs are the main obstacle to eradicate HIV infection. One strategy proposes to eliminate these viral reservoirs by pharmacologically reactivating the latently infected T cells. We show here that a 4-deoxyphorbol ester derivative isolated from Euphorbia amygdaloides ssp. semiperfoliata, 4ß-dPE A, reactivates HIV-1 from latency and could potentially contribute to decrease the viral reservoir. 4ß-dPE A shows two effects in the HIV replication cycle, infection inhibition and HIV transactivation, similarly to other phorboids PKC agonists such PMA and prostratin and to other diterpene esters such SJ23B. Our data suggest 4ß-dPE A is non-tumorigenic, unlike the related compound PMA. As the compounds are highly similar, the lack of tumorigenicity by 4ß-dPE A could be due to the lack of a long side lipophilic chain that is present in PMA. 4ß-dPE activates HIV transcription at nanomolar concentrations, lower than the concentration needed by other latency reversing agents (LRAs) such as prostratin and similar to bryostatin. PKCθ/MEK activation is required for the transcriptional activity, and thus, anti-latency activity of 4ß-dPE A. However, CD4, CXCR4 and CCR5 receptors down-regulation effect seems to be independent of PCK/MEK, suggesting the existence of at least two different targets for 4ß-dPE A. Furthermore, NF-κb transcription factor is involved in 4ß-dPE HIV reactivation, as previously shown for other PKCs agonists. We also studied the effects of 4ß-dPE A in combination with other LRAs. When 4ß-dPE A was combined with another PKC agonists such as prostratin an antagonic effect was achieved, while, when combined with an HDAC inhibitor such as vorinostat, a strong synergistic effect was obtained. Interestingly, the latency reversing effect of the combination was synergistically diminishing the EC50 value but also increasing the efficacy showed by the drugs alone. In addition, combinations of 4ß-dPE A with antiretroviral drugs as CCR5 antagonist, NRTIs, NNRTIs and PIs, showed a consistent synergistic effect, suggesting that the combination would not interefer with antiretroviral therapy (ART). Finally, 4ß-dPE A induced latent HIV reactivation in CD4 + T cells of infected patients under ART at similar levels than the tumorigenic phorbol derivative PMA, showing a clear reactivation effect. In summary, we describe here the mechanism of action of a new potent deoxyphorbol derivative as a latency reversing agent candidate to decrease the size of HIV reservoirs.

Advanced-stage mycosis fungoides: role of the signal transducer and activator of transcription 3, nuclear factor-κB and nuclear factor of activated T cells pathways.

BACKGROUND: The malignant mechanisms that control the development of cutaneous T-cell lymphoma (CTCL) are beginning to be identified. Recent evidence suggests that disturbances in specific intracellular signalling pathways, such as RAS-mitogen-activated protein kinase, T-cell receptor (TCR)-phospholipase C gamma 1 (PLCG1)-nuclear factor of activated T cells (NFAT) and Janus kinase (JAK)-signal transducer and activator of transcription (STAT), may play an essential role in the pathogenesis of CTCL. OBJECTIVES: To investigate the mechanisms controlling disease development and progression in mycosis fungoides (MF), the most common form of CTCL. METHODS: We collected 100 samples that were submitted for diagnosis of, or a second opinion regarding, MF between 2001 and 2018, 80% of which were in the early clinical stages of the disease. Formalin-fixed paraffin-embedded tissues were used for histological review and to measure the expression by immunohistochemistry of surrogate markers of activation of the TCR-PLCG1-NFAT, JAK-STAT and NF-κB pathways. Folliculotropism and large-cell transformation were also examined. RESULTS: NFAT and nuclear factor kappa B (NF-κB) markers showed a comparable activation status in early and advanced stages, while STAT3 activation was more frequent in advanced stages and was associated with large-cell transformation. Consistently with this observation, STAT3 activation occurred in parallel with MF progression in two initially MF-negative cases. A significant association of NFAT with NF-κB markers was also found, reflecting a common mechanism of activation in the two pathways. Genomic studies identified nine mutations in seven genes known to play a potential role in tumorigenesis in T-cell leukaemia/lymphoma, including PLCG1, JAK3 and STAT3, which underlies the activation of these key cell-survival pathways. A higher mutational allele frequency was detected in advanced stages. CONCLUSIONS: Our results show that STAT3 is activated in advanced cases and is associated with large-cell transformation, while the activation of NFAT and NF-κB is maintained throughout the disease. These findings could have important diagnostic and therapeutic implications. What's already known about this topic? Mycosis fungoides is characterized by a clonal expansion of T cells in the skin. The mechanisms controlling disease development and progression are not fully understood. What does this study add? An association of the nuclear factor of activated T cells and nuclear factor kappa B pathways was found, which could reflect a common mechanism of activation. These pathways were activated in early and advanced stages at the same level. Signal transducer and activator of transcription 3 activation was associated with large-cell transformation and was more frequent in advanced stages. A genomic analysis of cutaneous T-cell lymphoma-associated genes was performed. Nine mutations were detected. What is the translational message? These results could have important implications for the treatment of MF in the near future.

[Reversible cerebral vasoconstriction syndrome secondary to secreting jugular paraganglioma]. / Sindrome de vasoconstriccion cerebral reversible secundario a un paraganglioma yugular secretor de metanefrinas.

TITLE: Sindrome de vasoconstriccion cerebral reversible secundario a un paraganglioma yugular secretor de metanefrinas.

Endoscopic classification of the external auditory canal for transcanal endoscopic ear surgery.

OBJECTIVE: Evaluation of an endoscopic anatomic classification of the external auditory canal (EAC) for transcanal endoscopic ear surgery. MATERIALS AND METHOD: The EAC Canal Endoscopic Scale (CES) was initially defined according to total or partial EAC narrowing on 0° transcanal endoscopy. A retrospective study was then conducted between September 2013 and March 2015 in a series of consecutive patients fulfilling the study inclusion criteria. RESULTS: A total of 83% of 5000 patients (10000 ears) were classified as CES 0: i.e., total visualization of the tympanic membrane. Various kinds of EAC narrowing were described. Results were comparable between right and left ears. CONCLUSIONS: 0° endoscopy provided total visualization of the tympanic membrane in most cases, thanks to its magnified lateral view. Preoperative CES classification allows use of angled endoscopes, curved instruments or drilling for canalplasty to be planned in the first step of transcanal endoscopic ear surgery.

Identification of a Helical Segment within the Intrinsically Disordered Region of the PCSK9 Prodomain.

Proprotein convertase subtilisin/kexin 9 (PCSK9) is a key regulator of lipid metabolism by degrading liver LDL receptors. Structural studies have provided molecular details of PCSK9 function. However, the N-terminal acidic stretch of the PCSK9 prodomain (Q31-T60) has eluded structural investigation, since it is in a disordered state. The interest in this region is intensified by the presence of human missense mutations associated with low and high LDL-c levels (E32K, D35Y, and R46L, respectively), as well as two posttranslationally modified sites, sulfated Y38 and phosphorylated S47. Herein we show that a segment within this region undergoes disorder-to-order transition. Experiments with acidic stretch-derived peptides demonstrated that the folding is centered at the segment Y38-L45, which adopts an α-helix as determined by NMR analysis of free peptides and by X-ray crystallography of peptides in complex with antibody 6E2 (Ab6E2). In the Fab6E2-peptide complexes, the structured region features a central 2 1/4-turn α-helix and encompasses up to 2/3 of the length of the acidic stretch, including the missense mutations and posttranslationally modified sites. Experiments with helix-breaking proline substitutions in peptides and in PCSK9 protein indicated that Ab6E2 specifically recognizes the helical conformation of the acidic stretch. Therefore, the observed quantitative binding of Ab6E2 to native PCSK9 from various cell lines suggests that the disorder-to-order transition is a true feature of PCSK9 and not limited to peptides. Because the helix provides a constrained spatial orientation of the missense mutations and the posttranslationally modified residues, it is probable that their biological functions take place in the context of an ordered conformational state.

Las alteraciones de la microbiota intestinal en la patogenia del hígado graso no alcohólico / Alterations of the intestinal microbiota in the pathogenesis of nonalcoholic fatty liver disease

Non-alcoholic fatty liver disease (NAFLD) is currently considered in Chile and worldwide, as the main cause of cirrhosis and liver transplantation. It is therefore one of the main public health objectives for reducing its prevalence. In last years, it was suggested that the intestinal microbiota (IM) might contribute to the pathophysiology of NAFLD, as well as in the progression toward nonalcoholic steatohepatitis (NASH) and cirrhosis. It is known that changes in the composition of IM are associated with alterations in intestinal permeability and the production of inflammatory metabolites. These alterations are part of the pathophysiological mechanisms leading to the development of NASH. However studies on MI in patients with NAFLD and NASH in Chile are scarce. Through a research grant, recently awarded at the Hospital Clínico Universidad de Chile, we aim to confirm and characterize the intestinal dysbiosis associated with NAFLD in Chilean patients and to establish the relationship between the changes in microbial composition with the progression of liver damage. The description of these alterations represents an opportunity to explore new therapeutic approaches for future interventions. In effect, through the restoration of an intestinal microbial environment towards homeostasis in these patients, we expect to reverse or improve the progression of damage provoked by this disease. (AU)

Erratum to: The management of intra-abdominal infections from a global perspective: 2017 WSES guidelines for management of intra-abdominal infections.

[This corrects the article DOI: 10.1186/s13017-017-0141-6.].

Erratum to: Antimicrobials: a global alliance for optimizing their rational use in intra-abdominal infections (AGORA).

[This corrects the article DOI: 10.1186/s13017-016-0089-y.].

Myopodin methylation is a prognostic biomarker and predicts antiangiogenic response in advanced kidney cancer.

Myopodin is a cytoskeleton protein that shuttles to the nucleus depending on the cellular differentiation and stress. It has shown tumor suppressor functions. Myopodin methylation status was useful for staging bladder and colon tumors and predicting clinical outcome. To our knowledge, myopodin has not been tested in kidney cancer to date. The purpose of this study was to evaluate whether myopodin methylation status could be clinically useful in renal cancer (1) as a prognostic biomarker and 2) as a predictive factor of response to antiangiogenic therapy in patients with metastatic disease. Methylation-specific polymerase chain reactions (MS-PCR) were used to evaluate myopodin methylation in 88 kidney tumors. These belonged to patients with localized disease and no evidence of disease during follow-up (n = 25) (group 1), and 63 patients under antiangiogenic therapy (sunitinib, sorafenib, pazopanib, and temsirolimus), from which group 2 had non-metastatic disease at diagnosis (n = 32), and group 3 showed metastatic disease at diagnosis (n = 31). Univariate and multivariate Cox analyses were utilized to assess outcome and response to antiangiogenic agents taking progression, disease-specific survival, and overall survival as clinical endpoints. Myopodin was methylated in 50 out of the 88 kidney tumors (56.8 %). Among the 88 cases analyzed, 10 of them recurred (11.4 %), 51 progressed (57.9 %), and 40 died of disease (45.4 %). Myopodin methylation status correlated to MSKCC Risk score (p = 0.050) and the presence of distant metastasis (p = 0.039). Taking all patients, an unmethylated myopodin identified patients with shorter progression-free survival, disease-specific survival, and overall survival. Using also in univariate and multivariate models, an unmethylated myopodin predicted response to antiangiogenic therapy (groups 2 and 3) using progression-free survival, disease-specific, and overall survival as clinical endpoints. Myopodin was revealed hypermethylated in kidney cancer. Myopodin methylation status identified which patients showed a more aggressive clinical behavior and predicted antiangiogenic response. These observations support the clinical utility of an unmethylated myopodin as a prognostic and predictive biomarker in kidney cancer.

Refinement of screening for familial pancreatic cancer.

OBJECTIVE: Surveillance programmes are recommended for individuals at risk (IAR) of familial pancreatic cancer (FPC) to detect early pancreatic cancer (pancreatic ductal adenocarcinoma, PDAC). However, the age to begin screening and the optimal screening protocol remain to be determined. METHODS: IAR from non-CDKN2A FPC families underwent annual screening by MRI with endoscopic ultrasonography (EUS) in board-approved prospective screening programmes at three tertiary referral centres. The diagnostic yield according to age and different screening protocols was analysed. RESULTS: 253 IAR with a median age of 48 (25-81) years underwent screening with a median of 3 (1-11) screening visits during a median follow-up of 28 (1-152) months. 134 (53%) IAR revealed pancreatic lesions on imaging, mostly cystic (94%), on baseline or follow-up screening. Lesions were significantly more often identified in IAR above the age of 45 years (p<0.0001). In 21 IAR who underwent surgery, no significant lesions (PDAC, pancreatic intraepithelial neoplasia (PanIN) 3 lesions, high-grade intraductal papillary mucinous neoplasia (IPMN)) were detected before the age of 50 years. Potentially relevant lesions (multifocal PanIN2 lesions, low/moderate-grade branch-duct IPMNs) occurred also significantly more often after the age of 50 years (13 vs 2, p<0.0004). The diagnostic yield of potentially relevant lesions was not different between screening protocols using annual MRI with EUS (n=98) or annual MRI with EUS every 3rd year (n=198) and between IAR screened at intervals of 12 months (n=180) or IAR that decided to be screened at ≥24 months intervals (n=30). CONCLUSIONS: It appears safe to start screening for PDAC in IAR of non-CDKN2a FPC families at the age of 50 years. MRI-based screening supplemented by EUS at baseline and every 3rd year or when changes in MRI occur appears to be efficient.

A comparative study of the target volume definition in radiotherapy with «Slow CT Scan¼ vs. 4D PET/CT Scan in early stages non-small cell lung cancer. / Estudio comparativo en la definición del volumen de tratamiento en radioterapia con «Slow TC Scan¼ vs. 4D PET/TC Scan en estadios iniciales de cáncer de pulmón de célula no pequeña.

OBJECTIVES: To evaluate the use of 4D PET/CT to quantify tumor respiratory motion compared to the «Slow¼-CT (CTs) in the radiotherapy planning process. MATERIAL AND METHODS: A total of 25 patients with inoperable early stage non small cell lung cancer (NSCLC) were included in the study. Each patient was imaged with a CTs (4s/slice) and 4D PET/CT. The adequacy of each technique for respiratory motion capture was evaluated using the volume definition for each of the following: Internal target volume (ITV) 4D and ITVslow in relation with the volume defined by the encompassing volume of 4D PET/CT and CTs (ITVtotal). The maximum distance between the edges of the volume defined by each technique to that of the total volume was measured in orthogonal beam's eye view. RESULTS: The ITV4D showed less differences in relation with the ITVtotal in both the cranio-caudal and the antero-posterior axis compared to the ITVslow. The maximum differences were 0.36mm in 4D PET/CTand 0.57mm in CTs in the antero-posterior axis. 4D PET/CT resulted in the definition of more accurate (ITV4D/ITVtotal 0.78 vs. ITVs/ITVtotal 0.63), and larger ITVs (19.9 cc vs. 16.3 cc) than those obtained with CTs. CONCLUSION: Planning with 4D PET/CT in comparison with CTs, allows incorporating tumor respiratory motion and improving planning radiotherapy of patients in early stages of lung cancer.

Perfil de morbilidad otorrinolaringológica en niños con síndrome de Down / Ear, nose and throat disease profile in children with Down syndrome

Introducción: Los niños con síndrome de Down (SD) tienen mayor riesgo de desarrollar enfermedad otorrinolaringológica (ORL). Recomendaciones internacionales sugieren realizar tamizaje auditivo precoz y control periódico por especialista. Nuestro objetivo fue caracterizar la enfermedad ORL en niños con SD y proponer una recomendación adaptada a nuestra realidad. Pacientes y método: Estudio transversal, descriptivo, en niños de 6 meses a 15 años con SD. Los datos se obtuvieron por medio de entrevista a los padres y revisión de fichas clínicas. Resultados: Se analizaron 134 pacientes, con una edad promedio de 44,5 meses. El 78,8% de ellos presentaba enfermedad ORL, siendo la más frecuente la rinitis alérgica y otitis con efusión. El tamizaje auditivo estaba alterado en un 25% de ellos, el 50% de los mayores de 3 años con estudio de sueño tenían apnea obstructiva del sueño. Los niños de mayor edad tuvieron estadísticamente mayor frecuencia de enfermedad ORL. Conclusiones: Esta serie muestra una alta frecuencia de enfermedad ORL en niños con SD, lo que refuerza la necesidad de realizar tamizaje auditivo, sospechar e identificar las apneas obstructivas del sueño y derivación rutinaria al especialista para optimización de las condiciones auditivas que permitan el mejor desarrollo del niño con SD.

Introduction: The children with Down syndrome (DS) are at increased risk of ear-nose-throat (ENT) disorders. International recommendations suggest early hearing screening and periodic specialist evaluation. Our goal was to characterize ENT disorders in children with DS, and propose recommendations for the Chilean population. Patients and method: Cross-sectional, descriptive study, of children with DS, between 6 months and 15 years of age. The data was obtained by a health interview to the parents and review of medical records. Results: We analyzed 134 patients with an average age of 44.5 months. The 78.8% had ENT disorders, the most frequent ENT disorders was allergic rhinitis and otitis media with effusion. Hearing screening was abnormal in a quarter of the patients, 50% of children over 3 years of age had obstructive sleep apnea diagnosed by polysomnogram. Older children had a statistically higher frequency of ENT disorders. Conclusions: This series shows a high rate of ENT disorders in children with DS, which supports recommendations for hearing screening, high suspicion of obstructive sleep apnea and routine referral to an ENT specialist for prevention and aggressive therapy in order to reduce hearing loss and improve development of the child with DS.

PanGen-Fam: Spanish registry of hereditary pancreatic cancer.

PURPOSE: To describe the organisation of the registry and the preliminary results in terms of characteristics of high-risk pancreatic ductal adenocarcinoma (PDAC) families recruited to date and findings of the screening programme. To compare early onset sporadic cases (⩽50 years), sporadic cases (>50 years) and cases with family history of cancer, for PDAC possible risk factors. METHODS/PATIENTS: Families with hereditary cancer syndromes predisposing to PDAC were recruited from two main sources: Spanish hospitals participating in PanGenEU, a pan-European multicentre case-control study, and their genetic counseling unit. Individuals at high-risk of PDAC were enrolled into a screening programme, consisting of Endoscopic ultrasound, computerised tomography, magnetic resonance imaging. Genetic testing of candidate genes was offered according to each patient's risk. RESULTS: Among 577 consecutive PDAC cases, recruited via PanGenEU, 36 (6%) had ⩾2 first-degree relative with PDAC: Familial pancreatic cancer (FPC). So far PanGen-Fam has recruited 42 high-risk PDAC families; 25 (60%) had FPC. Five index cases with cancer were positive for BRCA2 and one for BRCA1 germline mutations. In the second year of prospective PDAC screening, one neuroendocrine tumour and a high-grade dysplasia lesion suspicious of carcinoma were diagnosed among 41 high-risk individuals. Furthermore EUS detected chronic-pancreatitis-like parenchymal changes in 15 patients. CONCLUDING STATEMENT: The identification and recruitment of PDAC high-risk families into the PanGen-Fam registry provides an opportunity to detect early onset cancer and precursor pancreatic cancer lesions at a potentially curative stage and to increase the knowledge of the natural history of the disease.

Reduction of tobacco smoke components yield in commercial cigarette brands by addition of HUSY, NaY and Al-MCM-41 to the cigarette rod.

The effect of two zeolites, HUSY, NaY and a mesoporous synthesized Al-MCM-41 material on the smoke composition of ten commercial cigarettes brands has been studied. Cigarettes were prepared by mixing the tobacco with the three powdered materials, and the smoke obtained under the ISO conditions was analyzed. Up to 32 compounds were identified and quantified in the gas fraction and 80 in the total particulate matter (TPM) condensed in the cigarettes filters and in the traps located after the mouth end of the cigarettes. Al-MCM-41 is by far the best additive, providing the highest reductions of the yield for most compounds and brands analyzed. A positive correlation was observed among the TPM and nicotine yields with the reduction obtained in nicotine, CO, and most compounds with the three additives. The amount of ashes in additive free basis increases due to the coke deposited on the solids, especially with Al-MCM-41. Nicotine is reduced with Al-MCM-41 by an average of 34.4% for the brands studied (49.5% for the brand where the major reduction was obtained and 18.5 for the brand behaving the worst). CO is reduced by an average of 18.6% (ranging from 10.3 to 35.2% in the different brands).

Influencia del polimorfismo genético rs2927488 de Bcl3 en el síndrome de intestino irritable / Influence of genetic polymorphism rs2927488 of the Bcl3 irritable bowel syndrome

Irritable Bowel Syndrome (IBS) is a functional disorder characterized by abdominal discomfort associated with changes in bowel habit and increased intestinal sensitivity. It is one of the most common disorders of digestive health in Chile as well as in the world. Although the pathophysiological mechanisms of IBS have yet to be fully established, it is known that (epi-) genetic factors are involved in the development of the disorder. Bcl3 (B-cell leukemia/lymphoma 3) is a regulatory protein of the intestinal inflammatory response, specifically, with regard to the signaling pathways of NF-kB (Nuclear Factor-kB). Among the variability of the human genome, the gene encoding Bcl3 contains the polymorphism SNPs rs2927488 (variants A/G) which has been associated with susceptibility to developing Inflammatory Bowel Disease (IBD). Furthermore, the presence of this polymorphic variant has been correlated with increased levels of Bcl3 gene expression in patients with Crohn’s Disease. Our laboratory is focused on understanding the potential relationship between Bcl3 and IBS. Our preliminary studies describe an increased expression of Bcl3 at the intestinal mucosal epithelium in IBS patients with a diarrheal-phenotype (IBS-D). We are now interested to investigate if the presence of the variant SNP rs2927488(A/G) is a susceptibility factor for IBS development and to understand the significance of its relationship with Bcl3 expression, in Chilean IBS patients. In this review, we focus primarily on the relationship between rs2927488(A/G) polymorphism of Bcl3 gene, its protein expression and its mechanisms of control over the inflammatory response...

Outcomes of open intraperitoneal incisional hernia repair based on patient-reported outcomes.

PURPOSE: The outcomes of open incisional hernia repair from the patients' point of view have variations over time, and only continuous follow-up would reflect the real outcomes. The purpose of this study is to validate a standard measurement instrument in the form of a questionnaire to report the evolutionary outcomes of a specific open technique to repair incisional hernias. METHODS: Prospective study follows up a cohort of 82 consecutive patients submitted to elective intraperitoneal open hernioplasty of midline incisional hernias. The follow-up consisted in an interview and physical examination 30 days after surgery, at 6 months, 1 year, 2 years, 3 years, and 4 years. Primary outcome measure was reporting the outcomes of hernia repair according to a standardized scale obtained from a questionnaire. RESULTS: There was no correlation between complications suffered by patients and score results (p = 0.722). The length of hospital stay was 6.5 ± 4.3 days, and a prolonged hospital stay was related to complications (p = 0.002) and did not influence the score results (p = 0.365). The final score demonstrated that patients had a very good impression on this procedure 1 month after surgery (p = 0.003). This impression shifted to an excellent perception 1 year after surgery remaining similar until the last control (p < 0.0001). CONCLUSIONS: In this series, the intraperitoneal hernioplasty was a procedure associated with minor morbidity and without recurrences 4 years after the operation. The outcomes from the patients' point of view were excellent 1 year after the procedure with a tendency to improve in the long term.