Valoración del ASPECTS automatizado como herramienta de inteligencia artificial en la práctica clínica diaria / Valuation of automatized ASPECTS as an artificial intelligence tool in daily clinical

Objetivos: Evaluar un software del Alberta Stroke Program Early CT Score (ASPECTS) automatizado (ASPECTS-a) frente a la lectura de dos radiólogos en las tomografías computarizadas (TC) solicitadas desde el servicio de urgencias. Describir los fallos más frecuentes del ASPECTS-a. Material y métodos. Se recogieron las TC cerebrales solicitadas por el servicio de urgencias en el período de un mes. Se registraron los siguientes datos: edad, sexo, motivo de solicitud del estudio y hallazgos en la prueba de imagen. Se utilizó un programa que proporciona una puntuación del ASPECTS automáticamente. Posteriormente, dos radiólogos examinaron de forma independiente todos los estudios y realizaron un ASPECTS visual (ASPECTS-v). En caso de discrepancia, se hizo una nueva lectura en consenso. Se compararon los resultados del ASPECTS-a con el ASPECTS-v. Resultados: Se realizaron un total de 295 TC cerebrales urgentes con una edad media de 65 ± 20 años. El 91,8% lo interpretaron los dos lectores como ASPECTS 10 en ambos hemisferios cerebrales. El ASPECTS-a puntuó el 45% con ASPECTS 10 en ambos hemisferios cerebrales. En 152 (51,5%), el ASPECTS-a y el ASPECTS-v no coincidieron. Las causas de la discrepancia fueron fundamentalmente por errores en la segmentación (generalmente por atrofias asimétricas). La mayor parte de los errores en la segmentación se localizaban en la cabeza del núcleo caudado, lo que se observó en 60 estudios. Conclusiones: El ASPECTS-a es una herramienta potente y de gran ayuda, pero siempre es necesaria una supervisión humana, particularmente en grupos de pacientes con cambios cerebrales preexistentes.(AU)

Aims: To evaluate an automated ASPECTS (ASPECTS-a) software against two radiologists’ reading of CT scans requested from the Emergency Department. Describe the most frequent failures of the ASPECTS-a. Material and methods: All the cranial CT Scans requested by the Emergency Department in one month were collected. The following data were recorded: age, sex, the reason for requesting the study, and imaging findings. A program was used that provides an ASPECTS score automatically. Subsequently, 2 radiologists independently reviewed all of the studies and provided the visual ASPECTS (ASPECTS-v). In case of discrepancy, a new reading was made by consensus. Results: A total of 295 brain CT scans (45.1% male) with a mean age of 65 ± 20.0 years were included. 91.8% were interpreted as ASPECTS-v 10 in both cerebral hemispheres by both readers. ASPECTS-a scored 45% with ASPECTS 10 in both cerebral hemispheres. In 152 (51.5%) the ASPECTS-a and the ASPECTS-v did not coincide. The causes of the discrepancy were mainly due to segmentation errors (usually due to asymmetric atrophies). Most of the segmentation errors were located in the head of the caudate nucleus, observed in 60 studies. Conclusions: ASPECTS-a is a powerful and helpful tool, but human supervision is always necessary, particularly in groups of patients with pre-existing brain changes.(AU)

[Valuation of automatized ASPECTS as an artificial intelligence tool in daily clinical]. / Valoración del ASPECTS automatizado como herramienta de inteligencia artificial en la práctica clínica diaria.

AIMS: To evaluate an automated ASPECTS (ASPECTS-a) software against two radiologists' reading of CT scans requested from the Emergency Department. Describe the most frequent failures of the ASPECTS-a. MATERIAL AND METHODS: All the cranial CT Scans requested by the Emergency Department in one month were collected. The following data were recorded: age, sex, the reason for requesting the study, and imaging findings. A program was used that provides an ASPECTS score automatically. Subsequently, 2 radiologists independently reviewed all of the studies and provided the visual ASPECTS (ASPECTS-v). In case of discrepancy, a new reading was made by consensus. RESULTS: A total of 295 brain CT scans (45.1% male) with a mean age of 65 ± 20.0 years were included. 91.8% were interpreted as ASPECTS-v 10 in both cerebral hemispheres by both readers. ASPECTS-a scored 45% with ASPECTS 10 in both cerebral hemispheres. In 152 (51.5%) the ASPECTS-a and the ASPECTS-v did not coincide. The causes of the discrepancy were mainly due to segmentation errors (usually due to asymmetric atrophies). Most of the segmentation errors were located in the head of the caudate nucleus, observed in 60 studies. CONCLUSIONS: ASPECTS-a is a powerful and helpful tool, but human supervision is always necessary, particularly in groups of patients with pre-existing brain changes.

TITLE: Valoración del ASPECTS automatizado como herramienta de inteligencia artificial en la práctica clínica diaria.Objetivos. Evaluar un software del Alberta Stroke Program Early CT Score (ASPECTS) automatizado (ASPECTS-a) frente a la lectura de dos radiólogos en las tomografías computarizadas (TC) solicitadas desde el servicio de urgencias. Describir los fallos más frecuentes del ASPECTS-a. Material y métodos. Se recogieron las TC cerebrales solicitadas por el servicio de urgencias en el período de un mes. Se registraron los siguientes datos: edad, sexo, motivo de solicitud del estudio y hallazgos en la prueba de imagen. Se utilizó un programa que proporciona una puntuación del ASPECTS automáticamente. Posteriormente, dos radiólogos examinaron de forma independiente todos los estudios y realizaron un ASPECTS visual (ASPECTS-v). En caso de discrepancia, se hizo una nueva lectura en consenso. Se compararon los resultados del ASPECTS-a con el ASPECTS-v. Resultados. Se realizaron un total de 295 TC cerebrales urgentes con una edad media de 65 ± 20 años. El 91,8% lo interpretaron los dos lectores como ASPECTS 10 en ambos hemisferios cerebrales. El ASPECTS-a puntuó el 45% con ASPECTS 10 en ambos hemisferios cerebrales. En 152 (51,5%), el ASPECTS-a y el ASPECTS-v no coincidieron. Las causas de la discrepancia fueron fundamentalmente por errores en la segmentación (generalmente por atrofias asimétricas). La mayor parte de los errores en la segmentación se localizaban en la cabeza del núcleo caudado, lo que se observó en 60 estudios. Conclusiones. El ASPECTS-a es una herramienta potente y de gran ayuda, pero siempre es necesaria una supervisión humana, particularmente en grupos de pacientes con cambios cerebrales preexistentes.

Endourological treatment for lumbar ureteral stones. What are the benefits of flexible ureterorenoscopy?

INTRODUCTION AND OBJECTIVES: Currently, there are no established criteria regarding treatment for lumbar ureteral stones. The objective of this work is to present our results in the endourological treatment of this pathology, analyzing the variables associated with the use of the flexible ureterorenoscope. MATERIAL AND METHODS: Retrospective review of 103 patients who underwent retrograde URS with semi-rigid or flexible ureterorenoscope. Proximal location: L2-L3. Medial location: L4-L5. Semirigid URS was the initial treatment, with conversion to flexible URS when it was required to complete the procedure. Success was defined as absence of residual fragments (6 weeks). Demographic, surgical, immediate postoperative variables, and those related to the stone, were analyzed. Their correlation with the use of the flexible ureterorenoscope was evaluated. RESULTS: Mean age: 57.2 years (SD 15.6); there were 73 men (70.9%). Stone size: 8 mm (range 4-30; IQR 4.5). Proximal location: 58 (56.3%). Previous JJ: 44.7%. Previous nephrostomy: 10.7%. Semirigid URS with conversion to flexible URS: 51 (49.5%). Impacted stones: 28.2%. Intraoperative complications: 2 (1.9%). Postoperative JJ: 84.5%. Immediate postoperative complications: 23 (22.3%) (Clavien-Dindo I-II: 91.3%). Postoperative ureteral stricture: 5.8%. Success: 88.4%. Residual fragments: 12 (11.7%). Spontaneous passage: 6 (50%). Greater performance of flexible URS in proximal ureteral stones (p = 0.001) of more than 11 mm (p = 0.02) in univariate analysis, and in proximal stones [OR 3.5; 1.5-8.1; p = 0.004] in multivariate analysis. CONCLUSIONS: Endourological treatment obtained a high success rate in our sample. Size greater than 11 mm and proximal ureteral location in univariate and multivariate analysis, respectively, behaved as predictors of flexible URS.

Progression of a series of patients with relapsing-remitting multiple sclerosis treated for 7 years with natalizumab using the "no evidence of disease activity" parameter.

INTRODUCTION: The safety and effectiveness of natalizumab in patients with relapsing-remitting multiple sclerosis (RRMS) has been demonstrated in clinical trials. However, due to the limitations of these trials, it is important to know how the condition behaves under long-term clinical practice conditions. OBJECTIVE: To determine the long-term effectiveness of natalizumab in patients with RRMS by means of annual evaluation of the "no evidence of disease activity" (NEDA) parameter, which includes number of relapses, disability (measured with the Expanded Disability Status Scale), and brain MRI parameters. PATIENTS AND METHODS: We performed a retrospective study of patients with RRMS from 3 centres who were treated with one or more doses of natalizumab. Each year, we evaluated NEDA status and safety based on the percentage of patients who discontinued treatment with natalizumab and experienced adverse reactions. RESULTS: The study included 89 patients, most of whom received treatment for 2 to 4 years, with a follow-up period of up to 7 years. Natalizumab significantly reduces the radiological and clinical progression of the disease, as well as the annual rate of relapses. The NEDA parameter demonstrates the effectiveness of the drug, with values of 75.28% for year one and 66.67% for year 7. Twenty-five patients (28.1%) dropped out after a median of 4 years. Fourteen of these patients (56%) dropped out due to the appearance of anti-JC virus antibodies, either in isolation or associated with another cause. Four dropouts (16%) were due to treatment ineffectiveness, with one patient dying due to progressive multifocal leukoencephalopathy. CONCLUSIONS: Natalizumab is highly effective as measured by the NEDA long-term remission parameter.

Endourological treatment for lumbar ureteral stones. What are the benefits of flexible ureterorenoscopy? / Tratamiento endourológico de la litiasis ureteral lumbar. ¿Qué aporta la ureterorrenoscopia flexible?

INTRODUCTION AND OBJECTIVES: Currently, there are no established criteria regarding treatment for lumbar ureteral stones. The objective of this work is to present our results in the endourological treatment of this pathology, analyzing the variables associated with the use of the flexible ureterorenoscope. MATERIAL AND METHODS: Retrospective review of 103 patients who underwent retrograde URS with semi-rigid or flexible ureterorenoscope. Proximal location: L2-L3. Medial location: L4-L5. Semirigid URS was the initial treatment, with conversion to flexible URS when it was required to complete the procedure. Success was defined as absence of residual fragments (6 weeks). Demographic, surgical, immediate postoperative variables, and those related to the stone, were analyzed. Their correlation with the use of the flexible ureterorenoscope was evaluated. RESULTS: Mean age: 57.2 years (SD 15.6); there were 73 men (70.9%). Stone size: 8mm (range 4-30; IQR 4.5). Proximal location: 58 (56.3%). Previous JJ: 44.7%. Previous nephrostomy: 10.7%. Semirigid URS with conversion to flexible URS: 51 (49.5%). Impacted stones: 28.2%. Intraoperative complications: 2 (1.9%). Postoperative JJ: 84.5%. Immediate postoperative complications: 23 (22.3%) (Clavien-Dindo I-II: 91.3%). Postoperative ureteral stricture: 5.8%. Success: 88.4%. Residual fragments: 12 (11.7%). Spontaneous passage: 6 (50%). Greater performance of flexible URS in proximal ureteral stones (P=0.001) of more than 11mm (P=0.02) in univariate analysis, and in proximal stones [OR 3.5; 1.5-8.1; P=0.004] in multivariate analysis. CONCLUSIONS: Endourological treatment obtained a high success rate in our sample. Size greater than 11mm and proximal ureteral location in univariate and multivariate analysis, respectively, behaved as predictors of flexible URS.

Evolución de una serie de pacientes con esclerosis múltiple remitente-recurrente tratados con natalizumab durante 7 años mediante el parámetro no evidencia enfermedad activa / Progression of a series of patients with relapsing-remitting multiple sclerosis treated for 7 years with natalizumab using the “no evidence of disease activity” parameter

Introducción: La efectividad y seguridad de natalizumab en pacientes con esclerosis múltiple remitente recurrente (EMRR) se demostró en ensayos clínicos. Sin embargo, por las limitaciones de estos es importante saber cómo se comporta en condiciones de práctica clínica a largo plazo.ObjetivoConocer la eficacia a largo plazo de natalizumab en pacientes con EMRR mediante la evaluación anual del no evidence of disease activity (NEDA), que incluye número de brotes, discapacidad medida con EDSS y parámetros de RM cerebral.Pacientes y métodosEstudio retrospectivo y multicéntrico (n = 3) de pacientes con EMRR tratados con una o más dosis de natalizumab. Se evaluó el estado NEDA cada año y la seguridad a partir del porcentaje de pacientes que discontinuaron y que presentaron efectos adversos.ResultadosIncluimos 89 pacientes, la mayoría recibieron tratamiento durante 2 a 4 años, con una duración del seguimiento de hasta 7 años. Natalizumab reduce significativamente la progresión radiológica y clínica de la enfermedad, así como la tasa anual de brotes, demostrándose su eficacia con el parámetro NEDA, 75,28% al primer año y 66,67% al séptimo año. Veinticinco pacientes (28,1%) han abandonado el estudio en una mediana de tiempo de 4 años, 14 pacientes (56%) por aparición de anticuerpos contra el virus JC, como causa única o asociada a otro motivo, 4 abandonos (16%) fueron por ineficacia, un paciente falleció a causa de LMP.ConclusionesNatalizumab presenta una alta eficacia medida mediante el parámetro de remisión NEDA a largo plazo. (AU)

Introduction: The safety and effectiveness of natalizumab in patients with relapsing-remitting multiple sclerosis (RRMS) has been demonstrated in clinical trials. However, due to the limitations of these trials, it is important to know how the condition behaves under long-term clinical practice conditions.ObjectiveTo determine the long-term effectiveness of natalizumab in patients with RRMS by means of annual evaluation of the “no evidence of disease activity” (NEDA) parameter, which includes number of relapses, disability (measured with the Expanded Disability Status Scale), and brain MRI parameters.Patients and methodsWe performed a retrospective study of patients with RRMS from 3 centres who were treated with one or more doses of natalizumab. Each year, we evaluated NEDA status and safety based on the percentage of patients who discontinued treatment with natalizumab and experienced adverse reactions.ResultsThe study included 89 patients, most of whom received treatment for 2 to 4 years, with a follow-up period of up to 7 years. Natalizumab significantly reduces the radiological and clinical progression of the disease, as well as the annual rate of relapses. The NEDA parameter demonstrates the effectiveness of the drug, with values of 75.28% for year one and 66.67% for year 7. Twenty-five patients (28.1%) dropped out after a median of 4 years. Fourteen of these patients (56%) dropped out due to the appearance of anti–JC virus antibodies, either in isolation or associated with another cause. Four dropouts (16%) were due to treatment ineffectiveness, with one patient dying due to progressive multifocal leukoencephalopathy.ConclusionsNatalizumab is highly effective as measured by the NEDA long-term remission parameter. (AU)

Dose and time effects of solar-simulated ultraviolet radiation on the in vivo human skin transcriptome.

BACKGROUND: Terrestrial ultraviolet (UV) radiation causes erythema, oxidative stress, DNA mutations and skin cancer. Skin can adapt to these adverse effects by DNA repair, apoptosis, keratinization and tanning. OBJECTIVES: To investigate the transcriptional response to fluorescent solar-simulated radiation (FSSR) in sun-sensitive human skin in vivo. METHODS: Seven healthy male volunteers were exposed to 0, 3 and 6 standard erythemal doses (SED). Skin biopsies were taken at 6 h and 24 h after exposure. Gene and microRNA expression were quantified with next generation sequencing. A set of candidate genes was validated by quantitative polymerase chain reaction (qPCR); and wavelength dependence was examined in other volunteers through microarrays. RESULTS: The number of differentially expressed genes increased with FSSR dose and decreased between 6 and 24 h. Six hours after 6 SED, 4071 genes were differentially expressed, but only 16 genes were affected at 24 h after 3 SED. Genes for apoptosis and keratinization were prominent at 6 h, whereas inflammation and immunoregulation genes were predominant at 24 h. Validation by qPCR confirmed the altered expression of nine genes detected under all conditions; genes related to DNA repair and apoptosis; immunity and inflammation; pigmentation; and vitamin D synthesis. In general, candidate genes also responded to UVA1 (340-400 nm) and/or UVB (300 nm), but with variations in wavelength dependence and peak expression time. Only four microRNAs were differentially expressed by FSSR. CONCLUSIONS: The UV radiation doses of this acute study are readily achieved daily during holidays in the sun, suggesting that the skin transcriptional profile of 'typical' holiday makers is markedly deregulated. What's already known about this topic? The skin's transcriptional profile underpins its adverse (i.e. inflammation) and adaptive molecular, cellular and clinical responses (i.e. tanning, hyperkeratosis) to solar ultraviolet radiation. Few studies have assessed microRNA and gene expression in vivo in humans, and there is a lack of information on dose, time and waveband effects. What does this study add? Acute doses of fluorescent solar-simulated radiation (FSSR), of similar magnitude to those received daily in holiday situations, markedly altered the skin's transcriptional profiles. The number of differentially expressed genes was FSSR-dose-dependent, reached a peak at 6 h and returned to baseline at 24 h. The initial transcriptional response involved apoptosis and keratinization, followed by inflammation and immune modulation. In these conditions, microRNA expression was less affected than gene expression.

Assessment of Susceptibility Risk Factors for ADHD in Imaging Genetic Studies.

OBJECTIVE: ADHD consists of a count of symptoms that often presents heterogeneity due to overdispersion and excess of zeros. Statistical inference is usually based on a dichotomous outcome that is underpowered. The main goal of this study was to determine a suited probability distribution to analyze ADHD symptoms in Imaging Genetic studies. METHOD: We used two independent population samples of children to evaluate the consistency of the standard probability distributions based on count data for describing ADHD symptoms. RESULTS: We showed that the zero-inflated negative binomial (ZINB) distribution provided the best power for modeling ADHD symptoms. ZINB reveals a genetic variant, rs273342 (Microtubule-Associated Protein [MAPRE2]), associated with ADHD ( p value = 2.73E-05). This variant was also associated with perivascular volumes (Virchow-Robin spaces; p values < 1E-03). No associations were found when using dichotomous definition. CONCLUSION: We suggest that an appropriate modeling of ADHD symptoms increases statistical power to establish significant risk factors.

Mesoscopic model for DNA G-quadruplex unfolding.

Genomes contain rare guanine-rich sequences capable of assembling into four-stranded helical structures, termed G-quadruplexes, with potential roles in gene regulation and chromosome stability. Their mechanical unfolding has only been reported to date by all-atom simulations, which cannot dissect the major physical interactions responsible for their cohesion. Here, we propose a mesoscopic model to describe both the mechanical and thermal stability of DNA G-quadruplexes, where each nucleotide of the structure, as well as each central cation located at the inner channel, is mapped onto a single bead. In this framework we are able to simulate loading rates similar to the experimental ones, which are not reachable in simulations with atomistic resolution. In this regard, we present single-molecule force-induced unfolding experiments by a high-resolution optical tweezers on a DNA telomeric sequence capable of adopting a G-quadruplex conformation. Fitting the parameters of the model to the experiments we find a correct prediction of the rupture-force kinetics and a good agreement with previous near equilibrium measurements. Since G-quadruplex unfolding dynamics is halfway in complexity between secondary nucleic acids and tertiary protein structures, our model entails a nanoscale paradigm for non-equilibrium processes in the cell.

[Fingolimod: effectiveness and safety in routine clinical practice. An observational, retrospective, multi-centre study in Galicia]. / Fingolimod: efectividad y seguridad en la practica clinica habitual. Estudio observacional, retrospectivo y multicentrico en Galicia.

INTRODUCTION: The effectiveness and safety of fingolimod in patients with relapsing-remitting multiple sclerosis (RRMS) have been proven in clinical trials. Yet, due to their limitations, it is important to know how it behaves under everyday clinical practice conditions. Hence, the aim of this study is to evaluate the effectiveness and safety of fingolimod after 12 months' usage in clinical practice in Galicia. PATIENTS AND METHODS: We conducted a retrospective, multi-centre study (n = 8) of patients with RRMS who were treated with one or more doses of fingolimod, 0.5 mg/day. Effectiveness was assessed -annualised relapse rate (ARR), changes in the score on the Expanded Disability Status Scale (EDSS), percentage of patients free from relapses, free from progression of disability and free from activity in resonance- for the total number of patients and according to previous treatment. Safety was assessed based on the percentage of patients who withdrew and presented adverse side effects. RESULTS: After 12 months' use, fingolimod reduced the ARR by 87% (1.7 to 0.23; p < 0.0001) and, consequently, 81% of patients were free from relapses. The score was reduced by 9%. In all, 91% of patients were free from progression of disability and 72% were free from resonance activity. No signs of disease activity were found in 43% of the patients. Most of the benefits of fingolimod differed depending on previous treatment. About a third of the patients reported adverse side effects, but only 2% of them withdrew for this reason. CONCLUSIONS: In clinical practice, most of the results on the effectiveness of the clinical trials conducted with fingolimod were observed during the first 12 months of treatment. A better safety profile was observed than that reported in the clinical trials.

TITLE: Fingolimod: efectividad y seguridad en la practica clinica habitual. Estudio observacional, retrospectivo y multicentrico en Galicia.Introduccion. La efectividad y seguridad del fingolimod en pacientes con esclerosis multiple remitente recurrente (EMRR) se demostro en ensayos clinicos. Sin embargo, por las limitaciones de estos, es importante saber como se comporta en condiciones de practica clinica habitual. Asi, el objetivo de este estudio es evaluar la efectividad y seguridad del fingolimod despues de 12 meses de uso en la practica clinica en Galicia. Pacientes y metodos. Estudio retrospectivo y multicentrico (n = 8) de pacientes con EMRR y tratados con una o mas dosis de fingolimod, 0,5 mg/dia. Se evaluo la efectividad ­tasa anualizada de brotes (TAB), cambio en la puntuacion de la escala expandida del estado de discapacidad (EDSS), porcentaje de pacientes libres de brotes, libres de progresion de discapacidad y libres de actividad en resonancia­ para el total de pacientes y segun tratamiento previo. Se evaluo la seguridad a partir del porcentaje de pacientes que discontinuaron y que presentaron efectos adversos. Resultados. Despues de 12 meses de uso, el fingolimod redujo un 87% la TAB (de 1,7 a 0,23; p < 0,0001) y, en consecuencia, un 81% de pacientes estuvo libre de brotes. La puntuacion de la EDSS disminuyo un 9%. Un 91% de pacientes estuvo libre de progresion de discapacidad y un 72%, libre de actividad en resonancia. En el 43% de los pacientes no se evidenciaron signos de la actividad de la enfermedad. La mayoria de los beneficios del fingolimod difirieron segun el tratamiento previo. Alrededor de un tercio de los pacientes comunicaron efectos adversos, pero solo el 2% discontinuo debido a ellos. Conclusiones. La mayoria de los resultados de efectividad de los ensayos clinicos del fingolimod se observa durante los 12 primeros meses de tratamiento en la practica clinica. Se observo un mejor perfil de seguridad al comunicado en los ensayos clinicos.

Pilot study of a novel pain management strategy: evaluating the impact on patient outcomes.

BACKGROUND: Our objective was to evaluate the impact of a novel multimodal pain management strategy on intraoperative opioid requirements, postoperative pain, narcotic use, and length of stay. METHODS: Consecutive patients undergoing elective laparoscopic colorectal resection were managed with an experimental protocol. The protocol uses a post-induction, pre-incision bilateral TAP block and local peritoneal infiltration at port sites with long-acting liposomal bupivacaine (20 mL long-acting liposomal bupivacaine, 30 mL 0.25 % bupivacaine, 30 mL saline). Experimental patients were matched on age, body mass index, gender, comorbidity, diagnosis, and procedure to a control group that received no block or local wound infiltration. Both groups followed a standardized enhanced recovery pathway. Demographics, perioperative, and postoperative outcomes were evaluated. The main outcome measures were intraoperative opioids, postoperative pain, opioid use, and length of stay. RESULTS: Fifty patients were analyzed-25 experimental and 25 controls. Patients were well matched on all demographics. In both cohorts, the main diagnosis was colorectal cancer and primary procedure performed a segmental resection. Operative times were similar (p = 0.41). Experimental patients received significantly less intraoperative fentanyl (mean 158 mcg experimental vs. 299 mcg control; p < 0.01). The experimental group had significantly lower initial (p < 0.01) and final PACU pain scores (p = 0.04) and shorter LOS (3.0 vs. 4.1 days, p = 0.04) compared to controls. Experimental patients trended toward shorter PACU times and lower opioid use and daily pain scores throughout the hospital stay. Postoperative complication and readmission rates were similar across groups. There were no reoperations or mortality. CONCLUSIONS: Our multimodal pain management strategy reduced intraoperative opioid administration. Postoperatively, improvements in PACU time, postoperative pain and narcotic use, and lengths of stay were seen in the experimental cohort. With the favorable finding from the pilot study, further investigation is warranted to fully evaluate the impact of this pain management protocol on patient satisfaction, clinical and financial outcomes.

Epidermal growth factor receptor expression in gastric tumors and its relationship with the germline polymorphisms - 216 G>T, -191 C>A, (CA) n IVS1, and R521K.

BACKGROUND: Gastric cancer (GC) is the third worldwide leading cause of cancer-related death affecting both sexes. The aberrant expression of epidermal growth factor receptor (EGFR) gene has been detected in many human epithelial malignancies and linked to advanced disease, more aggressive phenotype, and poor prognosis. AIMS: To analyze the relation that the expression of EGFR in gastric tumors holds with pathological characteristics and with the germline polymorphisms -216 G>T, -191 C>A, (CA) n IVS1, and R521K. MATERIALS AND METHODS: We studied 22 biopsies from gastric tumors obtained by endoscopy. EGFR expression was determined by relative quantification real-time polymerase chain reaction with the glyceraldehyde-3-phosphate dehydrogenase reference gene (as for messenger RNA [mRNA]) and by immunohistochemistry (IHC) (as for protein). EGFR germline polymorphisms were analyzed by sequencing, GeneScan, and restriction fragment length polymorphisms. RESULTS: EGFR mRNA expression was increased (>2-fold) in 13.6% of GC cases, decreased (<0.5-fold) in 68.2%, and normal in 18.2%; overexpression was related to well-differentiated gastric tumors, whereas underexpression was linked to moderate or poorly differentiated gastric tumors (P < 0.001). EGFR protein expression was high (IHC 2+ and 3+) in 29.4% of gastric tumors and was normal or low (score 0 to 1+) in 70.6% cases. EGFR expression, in both mRNA and protein, was not related to any EGFR polymorphism (P > 0.05). CONCLUSIONS: Most gastric tumors showed low EGFR expression (mRNA and protein), whereas EGFR overexpression was related to well-differentiated gastric tumors. Furthermore, germinal polymorphisms -216, -191, (CA) n IVS1, and R521K were not related to EGFR expression (mRNA or protein).

Ataxia y nistagmo de origen infrecuente / Ataxia and nystagmus of unusual origin

No disponible

Genetic risk profiles for a childhood with severe overweight.

OBJECTIVE: The objective of this study was the description of a valid genetic risk score (GRS) to predict individuals with high susceptibility to childhood overweight by their genetic profiles. DESIGN AND METHODS: Case-control study including a group of children with high-risk familial predisposition to morbid obesity. Birth cohort from general population constituted the validation sample. For the discovery sample, 218 children with non-syndromic obesity and 190 control individuals were included. The validation sample was 653 children from two birth cohorts belonging to the INMA (Infancia y Medio Ambiente [Environment and Childhood] )project. 109 SNPs located in the genes FTO, SEC16B, BDNF, ETV5, SH2B1, GNPDA2, LYPLAL1, MSRA, TFAP2, KCTD15, MTCH2 and NEGR1, previously reported in association to body mass index (BMI) were analysed. For the validation sample, association between genome-wide data and BMI measurements between 3.5 and 5 years of age, were evaluated. RESULTS: The GRS includes six SNPs in the genes FTO, TFAP2B, SEC16B, ETV5 and SH2B1. The score distribution differs among cases and controls (P = 9.2 × 10(-14) ) showing a significant linear association with obesity (odds ratio [OR] per allele = 1.69; confidence interval [CI] 95% = 1.46-1.97; P = 4.3 × 10(-1) and area under the receiver operating characteristic curve [AUC] = 0.727; CI 95% = 0.676-0.778). The results were validated by the INMA cohort (OR per allele = 1.23 CI 95% = 1.03-1.48 and AUC = 0.601 CI 95% = 0.522-0.680). CONCLUSIONS: The use of our proposed genetic score provides useful information to determine those children who are susceptible to obesity. To improve the efficiency of clinical prevention and treatment of obesity, it is essential to design individualized based protocols in advance knowledge of the molecular basis of inherited susceptibility.

Temporomandibular joint dysfunction in various rheumatic diseases.

Temporomandibular disorder (TMD) is an inclusive term in which those conditions disturbing the masticatory function are embraced. It has been estimated that 33% of the population have signs of TMD, but less than 5% of the population will require treatment. The objective of this study was to measure the frequency of TMD in rheumatoid arthritis (RA), osteoarthrosis (OA), ankylosing spondylitis (AS) and systemic lupus erythematosus, and to define the limitations in everyday's life that patients perceive when present. A six-month survey of consecutive outpatients in a rheumatology clinic in a teaching hospital in Mexico was carried out. We defined TMD as: 1) the presence of pain; 2) difficulty on mouth opening, chewing or speaking; 3) the presence of non-harmonic movements of the temporomaxilar joints. All three characteristics had to be present. Z test was used to define differences between proportions. We present the results of 171 patients. Overall, 50 patients had TMD according to our operational definition (29.24%). Up to 76% of the sample had symptoms associated with the condition. TMD is more frequent in OA and in AS (29.24% vs 38% OA, P=0.009; 39% AS; P=0.005). We found no association between the severity of TMD and the request for specific attention for the discomfort produced by the condition. Only 8 of 50 (16%) patients with TMD had requested medical help for their symptoms, and they were not the most severe cases. TMD is more frequent in RA and OA. Although it may produce severe impairment, patients seem to adapt easily.

Genome-wide association study of body mass index in 23 000 individuals with and without asthma.

BACKGROUND: Both asthma and obesity are complex disorders that are influenced by environmental and genetic factors. Shared genetic factors between asthma and obesity have been proposed to partly explain epidemiological findings of co-morbidity between these conditions. OBJECTIVE: To identify genetic variants that are associated with body mass index (BMI) in asthmatic children and adults, and to evaluate if there are differences between the genetics of BMI in asthmatics and healthy individuals. METHODS: In total, 19 studies contributed with genome-wide analysis study (GWAS) data from more than 23 000 individuals with predominantly European descent, of whom 8165 are asthmatics. RESULTS: We report associations between several DENND1B variants (P = 2.2 × 10(-7) for rs4915551) on chromosome 1q31 and BMI from a meta-analysis of GWAS data using 2691 asthmatic children (screening data). The top DENND1B single nucleotide polymorphisms(SNPs) were next evaluated in seven independent replication data sets comprising 2014 asthmatics, and rs4915551 was nominally replicated (P < 0.05) in two of the seven studies and of borderline significance in one (P = 0.059). However, strong evidence of effect heterogeneity was observed and overall, the association between rs4915551 and BMI was not significant in the total replication data set, P = 0.71. Using a random effects model, BMI was overall estimated to increase by 0.30 kg/m(2) (P = 0.01 for combined screening and replication data sets, N = 4705) per additional G allele of this DENND1BSNP. FTO was confirmed as an important gene for adult and childhood BMI regardless of asthma status. CONCLUSIONS AND CLINICAL RELEVANCE: DENND1B was recently identified as an asthma susceptibility gene in a GWAS on children, and here, we find evidence that DENND1B variants may also be associated with BMI in asthmatic children. However, the association was overall not replicated in the independent data sets and the heterogeneous effect of DENND1B points to complex associations with the studied diseases that deserve further study.

Rotura escleral traumática atípica: a propósito de un caso / Atypical traumatic scleral rupture: Presentation of a case

Caso clínico: Se presenta el caso clínico de un varón de 42 años que tras sufrir una contusión ocular presentaba una ruptura escleral posterior, diagnosticada a través de la TAC orbitaria, es controlado sin tratamiento quirúrgico. Después de 2 semanas, en la TAC se observa un globo ocular íntegro. Conclusiones: La existencia de hipema junto a hemorragia conjuntival y hemovítreo, nos debe hacer siempre pensar en la posibilidad de ruptura escleral(AU)

Case report: We describe the case of a 42 year-old man who, after suffering an eye contusion, subsequently presented with a posterior scleral rupture, which was diagnosed using orbital computed tomography (OCT), and controlled without surgical treatment. The OCT performed two weeks later showed that the eyeball was intact. Conclusions: A scleral rupture must be suspected when these three characteristics are present: hyphema, subconjunctival and vitreous haemorrhage(AU)