Efectos secundarios oculares de las terapias oncológicas. Revisión / Ocular side effects of oncological therapies: Review

Con el avance de la terapia contra el cáncer en los últimos años, ha aumentado el conocimiento de los mecanismos involucrados en esta enfermedad, lo que ha supuesto un aumento de la calidad de vida y de la supervivencia de los pacientes con afecciones tumorales anteriormente consideradas incurables o refractarias al tratamiento. El número de fármacos utilizados ha sufrido un aumento exponencial, y a pesar de que la toxicidad implícita es menor que la de la terapia antineoplásica convencional, conllevan la aparición de nuevos efectos adversos asociados, que el oftalmólogo debe reconocer y manejar.(AU)

With the advance of cancer therapy in recent years, the knowledge of the mechanisms involved in this disease has increased, which has meant an increase in the quality of life and survival of patients with tumor pathologies previously considered incurable or refractory to treatment. The number of drugs used has increased exponentially in number, and although the implicit toxicity is lower than that of conventional antineoplastic therapy, they lead to the appearance of new associated adverse effects that the ophthalmologist must recognize and manage.(AU)

Ocular side effects of oncological therapies: Review.

With the advance of cancer therapy in recent years, the knowledge of the mechanisms involved in this disease has increased, which has meant an increase in the quality of life and survival of patients with tumor pathologies previously considered incurable or refractory to treatment. The number of drugs used has increased exponentially in number, and although the implicit toxicity is lower than that of conventional antineoplastic therapy, they lead to the appearance of new associated adverse effects that the ophthalmologist must recognize and manage.

Resultados funcionales de tratamiento con bevacizumab intravítreo en pacientes con retinopatía del prematuro / Functional results in children with retinopathy of prematurity treated with intravitreal bevacizumab

Objetivo El propósito del presente estudio es determinar la eficacia y describir los resultados funcionales en términos de agudeza visual y defecto refractivo a largo plazo del tratamiento con una dosis de bevacizumab intravítreo en pacientes con retinopatía del prematuro (ROP) tipo1 de alto riesgo. Métodos Se trata de un estudio clínico retrospectivo en el que se seleccionaron todos los pacientes con ROP preumbral tipo1 de alto riesgo tratados según práctica clínica habitual con bevacizumab intravítreo entre diciembre de 2013 y enero de 2018. Los pacientes con un seguimiento inferior a tres años fueron excluidos. Se registraron los datos de agudeza visual y refracción bajo cicloplejia de la última exploración oftalmológica realizada. Se definió la variable éxito como ausencia de retratamiento con anti-VEGF intravítreo o láser durante el tiempo de seguimiento. Resultados Se incluyeron en el análisis 76 ojos de 38 pacientes. Un total de 20 pacientes (40 ojos) tenían valoración de mejor agudeza visual corregida tomada utilizando la prueba de Snellen. La edad media de estos pacientes era de 6años (intervalo 4-9). La agudeza visual mediana fue de 0,80 (RIQ: 0,50; 1,00). Treinta y cuatro ojos (85%) tenían buena agudeza visual (mayor o igual a 0,5). Se obtuvo la refracción bajo cicloplejia de 74 ojos de 37 pacientes. La mediana del equivalente esférico en la última revisión fue de +0,94 (RIQ: −0,25; 1,88). La tasa de éxito fue del 96,05%. Conclusión El bevacizumab intravítreo es una terapia efectiva con buenos resultados funcionales para ROP tipo1 de alto riesgo. En nuestro estudio se observó buena respuesta al tratamiento, con una tasa de éxito superior al 95% (AU)

Background/aim The aim of the study is to describe the efficacy and to determine the functional outcome in terms of visual acuity and refractive defect of a single dose of intravitreal bevacizumab in patients with high-risk ROP type1. Methods In this retrospective clinical study patients diagnosed between December 2013 and January 2018 with high-risk pre-threshold ROP type1 and treated with intravitreal bevacizumab were selected. All patients were treated following the established protocol at our centre. Those patients with less than three-year follow-up were excluded. Visual acuity and cycloplegic refraction in the last visit were registered. Treatment efficacy was defined as the absence of retreatment with intravitreal anti-VEGF or laser during follow-up. Results A total of 38 infants (76eyes) were included in the analysis. Twenty infants (40eyes) completed visual acuity testing. Mean age was 6years (IQR: 4-9). Median visual acuity was 0.8 (IQR: 0.5-1). Thirty-four eyes (85%) had good visual acuity (greater than or equal to 0.5). Thirty-seven patients (74eyes) had cycloplegic refraction measured. Median spherical equivalent at the last visit was +0.94 (IQR: −0.25; 1.88). Treatment success rate was 96.05%. Conclusion Intravitreal bevacizumab treatment showed good functional outcome in patients with high-risk ROP type1. In our study, good response to treatment was observed with a success rate over 95% (AU)

Functional results in children with retinopathy of prematurity treated with intravitreal bevacizumab.

BACKGROUND/AIM: The aim of the study is to describe the efficacy and to determine the functional outcome in terms of visual acuity and refractive defect of a single dose of intravitreal bevacizumab in patients with high-risk ROP type 1. METHODS: In this retrospective clinical study patients diagnosed between December 2013 and January 2018 with high-risk pre-threshold ROP type 1 and treated with intravitreal bevacizumab were selected. All patients were treated following the established protocol at our centre. Those patients with less than three-year follow-up were excluded. Visual acuity and cycloplegic refraction in the last visit were registered. Treatment efficacy was defined as the absence of retreatment with intravitreal anti-VEGF or laser during follow-up. RESULTS: A total of 38 infants (76 eyes) were included in the analysis. Twenty infants (40 eyes) completed visual acuity testing. Mean age was 6 years (IQR: 4-9). Median visual acuity was 0.8 (IQR: 0.5-1). Thirty-four eyes (85%) had good visual acuity (greater than or equal to 0.5). Thirty-seven patients (74 eyes) had cycloplegic refraction measured. Median spherical equivalent at the last visit was +0.94 (IQR: -0.25; 1.88). Treatment success rate was 96.05%. CONCLUSION: Intravitreal bevacizumab treatment showed good functional outcome in patients with high-risk ROP type 1. In our study, good response to treatment was observed with a success rate over 95%.

Perineural invasion predicts poor survival and cervical lymph node metastasis in oral squamous cell carcinoma.

BACKGROUND: Oral squamous cell carcinoma (OSCC) usually invades peripheral nerves through a process known as perineural invasion (PNI), recognized as an adverse factor considered for the administration of postoperative adjuvant therapy. The aim of this study was to assess the impact of PNI on survival and cervical lymph node metastasis in a cohort of OSCC patients. MATERIAL AND METHODS: Presence, location and extension of PNI were assessed in a cohort of 57 paraffin-embedded OSCC resections. Clinico-pathological variables were obtained from each case. Five-year overall survival (OS) and 5-year disease-specific survival (DSS) curves were constructed according to the Kaplan-Meier method and compared with log-rank test. The Cox proportional hazard model was used to assess the role of PNI as an independent risk factor related to poor survival, and a binary logistic regression was performed to estimate the predictive value of PNI for regional lymph node metastasis. RESULTS: PNI was observed in 49.1% of the cases, affecting only small nerves. Peritumoral PNI was the most common location, and multifocal PNI the most frequent extent. Most PNI positive cases had cervical metastasis (p=0.001), and PNI was more frequent in stages III-IV than in I-II (p=0.02). The five-year OS and the 5-year DSS decreased in PNI positive and peritumoral PNI cases. PNI was an independent risk factor for poor 5-year OS and poor 5-year DSS. The odds for cervical lymph node metastasis were of 6.076 (p=0.006) and 10.257 (p=0.007) for PNI and Tumor budding (TB) positive cases, respectively. CONCLUSIONS: PNI is a frequent finding in OSCC and an independent risk factor for poor OS and DSS. PNI and TB are both risk factors associated to an increased likelihood for the development of lymph node metastasis. Therefore, we suggest further investigations to test the combined PNI-TB scoring system in risk stratification models for OSCC.

MicroRNA expression in male infertility.

Male infertility is a multifactorial disorder that involves different physiopathological mechanisms and multiple genes. In this sense, we analyse the role of miRNAs in this pathology. Gene expression analysis can provide relevant information to detect biomarkers, signalling pathways, pathologic mechanisms, and potential therapeutic targets for the disease. In this review, we describe four miRNA microarrays related to patients who present infertility diseases, including azoospermia, asthenozoospermia, and oligoasthenozoospermic. We selected 13 miRNAs with altered expressions in testis tissue (hsa-miR-122-5p, hsa-miR-145-5p, hsa-miR-16-5p, hsa-miR-193a-3p, hsa-miR-19a-3p, hsa-miR-23a-3p, hsa-miR-30b-5p, hsa-miR-34b-5p, hsa-miR-34c-5p, hsa-miR-374b-5p, hsa-miR-449a, hsa-miR-574-3p and hsa-miR-92a-3p), and systematically examine the mechanisms of four relevant miRNAs (hsa-miR-16-5p, hsa-miR-19a-3p, hsa-miR-92a-3p and hsa-miR-30b-5p) which we found that regulated a large number of proteins. An interaction network was generated, and its connections allowed us to identify signalling pathways and interactions between proteins associated with male infertility. In this way, we confirm that the most affected and relevant pathway is the PI3K-Akt signalling.

Effects of the age/rage axis in the platelet activation.

Platelet activity is essential in cardiovascular diseases. Therefore our objective was to evaluate the main effects of activating RAGE in platelets which are still unknown. A search for RAGE expression in different databases showed poor or a nonexistent presence in platelets. We confirmed the expression in platelets and secreted variable of RAGE (sRAGE). Platelets from elderly adults expressed in resting showed 3.2 fold more RAGE from young individuals (p < 0.01) and 3.3 fold with TRAP-6 (p < 0.001). These results could indicate that the expression of RAGE is more inducible in older adults. Then we found that activating RAGE with AGE-BSA-derived from methylglyoxal and subthreshold TRAP-6, showed a considerable increase with respect to the control in platelet aggregation and expression of P-selectin (respectively, p < 0.01). This effect was almost completely blocked by using a specific RAGE inhibitor (FSP-ZM1), confirming that RAGE is important for the function and activation platelet. Finally, we predict the region stimulated by AGE-BSA is located in region V of RAGE and 13 amino acids are critical for its binding. In conclusion, the activation of RAGE affects platelet activation and 13 amino acids are critical for its stimulation, this information is crucial for future possible treatments for CVD.

Historia del manejo de rinitis atrófica / The history of the treatment of atrophic rhinitis

La rinitis atrófica es una enfermedad crónica progresiva caracterizada por dilatación anormal de las cavidades nasales con atrofia de la mucosa, submucosa y cornetes nasales subyacentes. Los factores etiopatogénicos aún son desconocidos. Su presentación clínica consiste en congestión nasal paradójica asociado a secreciones viscosas, con presencia de costras secas de mal olor. La higiene nasal con irrigación de alto volumen y baja presión es el estándar de tratamiento médico. El tratamiento quirúrgico busca reducir el tamaño de las cavidades nasales y promover la regeneración de la mucosa nasal así como también su vascularización y lubricación. A lo largo de la historia se han descrito múltiples procedimientos quirúrgicos que han buscado estrechar la cavidad nasal para permitir el paso de aire de forma más fisiológica. Por otra parte, se han propuesto intervenciones radicales como el cierre de las fosas nasales para disminuir los síntomas y mejorar la calidad de vida. En este artículo se resumen los principales manejos y procedimientos propuestos junto con sus resultados y conclusiones. Si bien la mayoría de las técnicas descritas ya no se utilizan en la actualidad, es importante conocerlas ya que aún existen pacientes que fueron sometidos a ellas pudiendo presentar complicaciones y/o efectos adversos.

Atrophic rhinitis is a chronic progressive disease characterized by abnormal dilatation of the nasal cavities with atrophy of the mucosa, nasal submucosa and underlying nasal turbinates. The etiopathogenic factors are still unknown. Its clinical presentation consists of paradoxical nasal congestion associated with viscous secretions, usually with the presence of dry, bad-smelling crusts. Nasal hygiene with high pressure irrigation remains the standard of medical treatment. Surgical treatment seeks to reduce the size of nasal cavities and promote regeneration of nasal mucosa as well as its vascularization and lubrication. Throughout history, multiple surgical procedures have been described that have sought the narrowing of the nasal cavity to allow the passage of air more physiologically. On the other hand, radical interventions have been proposed such as the closure of the nostrils to reduce symptoms and improve quality. This article summarizes the main proposed procedures along with their results and conclusions. Although most of the techniques described are no longer used today, it is important to know them since there are still patients who were subjected to them and may present complications and / or adverse effects.

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Prognostic value of immunoexpression of CCR4, CCR5, CCR7 and CXCR4 in squamous cell carcinoma of tongue and floor of the mouth.

BACKGROUND: Diverse studies have evidenced that chemokines can play a critical role in pathogenesis of oral squamous cell carcinoma (SCC). The main chemokines involved in oral carcinogenesis, tumor invasion and metastasis are CCR4, CCR5, CCR7 and CXCR4, and our aim was to evaluate the prognostic value of the immunoexpression of these chemokines in SCC of tongue and floor of the mouth. MATERIAL AND METHODS: A retrospective descriptive study of the immunohistochemical expression of CCR4, CCR5, CCR7 and CXCR4 in paraffin-embedded samples of 124 patients with SCC of the tongue and floor of the mouth was performed, considering 98 cases from Brazil and 26 cases from Chile. Associations between variables were analyzed using chi-square test. Survival curves were performed using the Kaplan-Meier method and compared with long-rank test. For multivariate survival analysis, the Cox hazard model was established. The level of significance established was p≤0.05. RESULTS: The statistical analysis showed that samples with well or moderate WHO model differentiation (p=0.001) and a high expression of CCR5 (p=0.05) were significantly associated with a higher disease specific survival, which were also observed in Cox's multivariate analysis (p=0.01). A higher expression of CCR7 (p=0.01) interfered significantly in disease-free survival in univariate analysis and in Cox's multivariate analysis (p=0.05). CONCLUSIONS: These results support additional evidence, showing that chemokine receptors CCR5 and CCR7 are helpful as biomarkers of poor prognosis in patients with SCC of the tongue and floor of the mouth.

Hipoacusia en enfermedad de Vogt-Koyanagi-Harada: caso clínico y revisión de literatura / Hearing loss in Vogt-Koyanagi-Harada Disease: case report and literature review

RESUMEN La patología autoinmune de oído interno se caracteriza por presentar hipoacusia sensorioneural bilateral, asimétrica y progresiva, que responde a terapia médica, presentándose aislada o como parte de una enfermedad sistémica como la enfermedad de Vogt-Koyanagi-Harada. Se presenta el caso de una paciente que consulta por cefalea, visión borrosa y sintomatología audiológica, con diagnóstico de enfermedad de Vogt-Koyanagi-Harada. Revisamos la literatura disponible respecto a la enfermedad y sus manifestaciones otológicas.

ABSTRACT Autoimmune inner ear disease presents a bilateral, asymmetric and progressive sensorineural hearing loss, that responds to medical therapy, presenting alone or associated to a systemic disease such as Vogt-Koyanagi-Harada disease. We present the case of a patient with headache, blur vision and audiologic symptoms, diagnosed with Vogt-Koyanagi-Harada disease. We review the literature about the disease and its otologic manifestations.

The cAMP/PKA Pathway Inhibits Beta-amyloid Peptide Release from Human Platelets.

The main component of Alzheimer's disease (AD) is the amyloid-beta peptide (Aß), the brain of these patients is characterized by deposits in the parenchyma and cerebral blood vessels known as cerebral amyloid angiopathy (CAA). On the other hand, the platelets are the major source of the Aß peptide in circulation and once secreted can activate the platelets and endothelial cells producing the secretion of several inflammatory mediators that finally end up unchaining the CAA and later AD. In the present study we demonstrate that cAMP/PKA pathway plays key roles in the regulation of calpain activation and secretion of Aß in human platelets. We confirmed that inhibition of platelet functionality occurred when platelets were incubated with forskolin (molecule that rapidly increased cAMP levels). In this sense we found that platelets pre-incubated with forskolin (20 µM) present a complete inhibition of calpain activity and this effect is reversed using an inhibitor of protein kinase A. Consequentially, when platelets were inhibited by forskolin a reduction in the processing of the APP with the consequent decrease in the Aß peptide secretion was observed. Therefore our study provides novel insight in relation to the mechanism of processing and release of the Aß peptide from human platelets.

Anti-aggregation effect on platelets of Indiplon a hypnotic sedative non-benzodiazepine drug.

Cardiovascular diseases are one of the main public health problems, and many of them, their pathophysiology involves alterations in platelet activity. Platelet activation is an essential event that is regulated by the intracellular concentrations of Ca2+ and cAMP. Interestingly, it has been shown that the activation of adenosine A2A receptors increases cAMP levels and produces the inhibition of platelet aggregation, which appears as a potential target for regulation of platelet activity. Therefore, we tried to activate A2A receptors using Indiplon, a drug developed for the treatment of insomnia, and analyze its effect on platelet activity in vitro. Our results indicate that Indiplon is able to interact in silico with the adenosine A2A receptor (ΔGbind of -73.321 kcal/mol, similar to that obtained with adenosine), which is involved in the regulation of platelet cAMP levels. In functional studies using PRP, a reduction in platelet aggregation induced by ADP was observed in the presence of Indiplon at 500 µM with a percentage of inhibition 70%, where the use of specific inhibitors (ZM241385 and MSX-2) of the A2A receptor also blocked these effects reducing the percentage of inhibition to 41% and 34.1%, respectively. Also, the use of Indiplon produced a decrease in the expression in the membrane of P-selectin. Thus, Indiplon acts as an A2A receptor agonist and whose activation results in inhibition of platelet aggregation and activation, showing a possible cardiovascular protective role.

Clinicopathological significance of miR-26, miR-107, miR-125b, and miR-203 in head and neck carcinomas.

OBJECTIVES: MicroRNAs play a role in the development and progression of head and neck squamous cell carcinomas (HNSCC). Our aim was to study the expression of miR-26, miR-107, miR-125b, and miR-203 in primary HNSCC with and without lymph node metastasis and their clinicopathological significance. MATERIALS AND METHODS: The expression of microRNAs in primary HNSCC with lymph node metastasis (n = 16) and their matched lymph node, as well as primary tumors without metastasis (n = 16), were determined by quantitative RT-PCR and analyzed with clinicopathological features and survival. RESULTS: The expression levels of miR-26 (p < .05) and miR-125b (p < .01) were higher in metastatic primary HNSCC, while levels of miR-203 (p < .01) were lower. The expression of the microRNAs was associated with clinicopathological features, including miR-26 high expression and N stage (p = .04), poor differentiation (p = .005) and recurrence (p = .007), miR-125b high expression and N stage (p = .0005) and death (p = .02), and low levels of miR-203 and N stage (p = .04). The high expression of miR-26 was associated with shortened disease-free survival, and high miR-125b expression was an independent risk factor for poor disease-specific survival. CONCLUSIONS: These findings suggest that miR-26 and miR-125b may be associated with the progression and metastasis of HNSCC and that miR-203 is associated with a more favorable prognosis.

Neuroprotective effect of a new variant of Epo nonhematopoietic against oxidative stress.

Human erythropoietin is mainly recognized for its hematopoietic function; however, by binding to its receptor (EpoR), it can activate different signaling pathways as STAT, PI3K, MAPK and RAS to increase cellular differentiation or provide neuroprotective effects, among others. A recombinant human erythropoietin variant with low glycosylation and without hematopoietic effect (EpoL) was purified from skimmed goat milk. Recombinant human erythropoietin (Epo) was obtained from CHO cell line and used as control to compare EpoL effects. Neuroprotection studies were performed in PC12 cells and rat hippocampal slices. Cells were pretreated during 1h with EpoL or Epo and exposed to oxidative agents (H2O2 or FCCP); cell viability was assayed at the end of the experiment by the MTT method. Hippocampal slices were exposed to 15min of oxygen and glucose deprivation (OGD) and the neuroprotective drugs EpoL or Epo were incubated for 2h post-OGD in re-oxygenated medium. Cell cultures stressed with oxidative agents, and pretreated with EpoL, showed neuroprotective effects of 30% at a concentration 10 times lower than that of Epo. Moreover, similar differences were observed in OGD ex vivo assays. Neuroprotection elicited by EpoL was lost when an antibody against EpoR was present, indicating that its effect is EpoR-dependent. In conclusion, our results suggest that EpoL has a more potent neuroprotective profile than Epo against oxidative stress, mediated by activation of EpoR, thus EpoL represents an important target to develop a potential biopharmaceutical to treat different central nervous system pathologies related to oxidative stress such as stroke or neurodegenerative diseases.

The impact of skin diseases on quality of life: a multicenter study / El impacto de las enfermedades cutáneas en la calidad de vida: un estudio multicéntrico

INTRODUCTION: To date, no formal study has been published regarding how Colombian patients with skin disorders could be affected according to their perception of disease. OBJECTIVE: To determine the impact in quality of life of skin diseases in a Colombian population. METHODS: This multicenter study included patients with skin disease from almost the whole country. Individuals >18 years old; of any gender; with any skin disease and who signed informed consent, were included. We applied the Colombian validated version of the Skindex-29 instrument. RESULTS: A total of 1896 questionnaires had sufficient information for the analyses. No significant differences in sociodemographic characteristics of patients who returned the questionnaire incomplete vs. complete, were found. Participants mean age was 41.5 years. There were no statistical differences in men vs. women regarding the global (p = 0.37), symptoms (p = 0.71) and emotions (p = 0.32) domains, whereas statistical differences were found in the function domain (p = 0.04; Mann-Whitney U test). Psoriasis, contact dermatitis, atopic dermatitis, urticaria, hair disorders, Hansen's disease, scars, hyperhidrosis and genital human papillomavirus disease scored the highest. Limitations. Skindex-29 score variability as a result of differences in the location of the skin lesions, their inflammatory or non-inflammatory nature, and the start of therapy. CONCLUSIONS: Even the most localized or asymptomatic skin lesion in our population leads to a disruption at some level of patient's wellness. This study adds well supported scientific data of the burden of skin diseases worldwide

INTRODUCCIÓN: En Colombia se carece de estudios que hayan evaluado formalmente el impacto de las enfermedades dermatológicas en la calidad de vida de los pacientes que las padecen. OBJETIVO: Determinar el impacto en la calidad de vida de las enfermedades cutáneas en una población colombiana. MÉTODOS: Estudio multicéntrico que incluyó a individuos>18 años de edad; de cualquier sexo, con cualquier trastorno cutáneo y que firmaron el consentimiento informado. Se aplicó la versión validada en Colombia del instrumento Skindex-29. RESULTADOS: Un total de 1.896 cuestionarios se incluyeron en el análisis. No se observaron diferencias significativas en las características sociodemográficas entre los que devolvieron el cuestionario incompleto vs. completo. La edad promedio fue de 41,5 años. No hubo diferencias significativas entre hombres y mujeres con respecto al puntaje global del instrumento, ni de los dominios sintomático o emocional, mientras que sí las hubo en el dominio funcional. Entre las enfermedades que más afectaron la calidad de vida se incluyen: psoriasis, dermatitis de contacto, dermatitis atópica, urticaria, trastornos capilares, lepra, cicatrices, hiperhidrosis y las verrugas genitales. Limitaciones. Las puntuaciones del Skindex-29 mostraron una gran variabilidad explicable por diferencias en la localización de las lesiones de la piel, su naturaleza inflamatoria/no inflamatoria, y la iniciación o no del tratamiento. CONCLUSIONES: Cualquier lesión dermatológica por más localizada o asintomática que sea, condujo a una alteración en algún grado de la calidad de vida dermatológica. Este estudio añade soporte científico a la carga de enfermedad que generan los trastornos cutáneos en el mundo

The impact of skin diseases on quality of life: A multicenter study.

INTRODUCTION: To date, no formal study has been published regarding how Colombian patients with skin disorders could be affected according to their perception of disease. OBJECTIVE: To determine the impact in quality of life of skin diseases in a Colombian population. METHODS: This multicenter study included patients with skin disease from almost the whole country. Individuals >18 years old; of any gender; with any skin disease and who signed informed consent, were included. We applied the Colombian validated version of the Skindex-29 instrument. RESULTS: A total of 1896 questionnaires had sufficient information for the analyses. No significant differences in sociodemographic characteristics of patients who returned the questionnaire incomplete vs. complete, were found. Participants mean age was 41.5 years. There were no statistical differences in men vs. women regarding the global (p=0.37), symptoms (p=0.71) and emotions (p=0.32) domains, whereas statistical differences were found in the function domain (p=0.04; Mann-Whitney U test). Psoriasis, contact dermatitis, atopic dermatitis, urticaria, hair disorders, Hansen's disease, scars, hyperhidrosis and genital human papillomavirus disease scored the highest. LIMITATIONS: Skindex-29 score variability as a result of differences in the location of the skin lesions, their inflammatory or non-inflammatory nature, and the start of therapy. CONCLUSIONS: Even the most localized or asymptomatic skin lesion in our population leads to a disruption at some level of patient's wellness. This study adds well supported scientific data of the burden of skin diseases worldwide.

Prenatally diagnosed congenital diaphragmatic hernia: optimal mode of delivery?

OBJECTIVE: To evaluate if the delivery mode of infants with prenatally diagnosed congenital diaphragmatic hernia (CDH) affects the outcome. STUDY DESIGN: Data from the CDH Study Group database of infants with prenatal diagnosis between 2001-2015 were divided into four delivery mode groups: vaginal spontaneous, vaginal induced, elective caesarean section, and emergent caesarean section. Outcomes were analyzed in relation to the time of day of delivery and the gestational age at birth. RESULTS: A total of 3906 cases of prenatally diagnosed CDH were assessed, with an overall survival of 64%. There were no differences in patient characteristics, requirement for extracorporeal membrane oxygenation, length of hospital stay or intubation, requirement for O2 at 30 days or overall survival. The time of day at birth did not affect the outcome. There was no difference in outcome between the different delivery modes at similar gestational age (GA) at birth, with worse outcomes at lower GA. CONCLUSIONS: Neither the mode nor time of delivery seems to affect the overall outcome for patients with prenatally diagnosed CDH. Outcome is strongly associated with the GA at birth.

Joint analysis of additive, dominant and first-order epistatic effects of four genes (IGF2, MC4R, PRKAG3 and LEPR) with known effects on fat content and fat distribution in pigs.

LEPR, MC4R, IGF2 and PRKAG3 are genes with known effects on fat content and distribution in pig carcass and pork. In a study performed with Duroc × Landrace/Large White pigs, we have found that IGF2 has strong additive effects on several carcass conformational traits and on fatty acid composition in several anatomical locations. MC4R shows additive effects on saturated fatty acid content in several muscles. On the other side, almost no additive effect has been found for PRKAG3 and very few for LEPR. In this work, no dominant effect has been found for any of the four genes. Using a Bayesian Lasso approach, we have been able now to find first-order epistatic (mainly dominant-additive) effects between LEPR and PRKAG3 for intramuscular fat content and for saturated fatty acid content in L. dorsii, B. femoralis, Ps. major and whole ham. The presence of interactions between genes in the shaping of traits of such importance as intramuscular fat content and composition highlights the complexity of heritable traits and the difficulty of gene-assisted selection for such traits.

Allelic frequencies of PRKAG3 in several pig breeds and its technological consequences on a Duroc × Landrace-Large White cross.

The allelic frequencies of PRKAG3 gene (the RN gene) have been investigated in several pig breeds. R200Q mutation appear only in Hampshire pigs, whereas V199I mutation is most abundant in Iberian, Porco Celta or Bizaro, and less in breeds selected for muscularity as Duroc, Landrace and Pietrain. A thorough study of phenotypic effects of V1991 has been performed in a Duroc × Landrace-Large White cross. 199I homozygous pigs show increased pH24 values in ham homogenates and loin (0.14 and 0.16 pH units, respectively) compared to 199V homozygous ones. Meat of 199I homozygous pigs exudates 42.6% less fluid and is darker (2.46 'L'-value units). 199I homozygous pigs are fatter (4.2 mm more backfat thickness) and contain less muscle mass in ham (1.0 percentage points) and shoulder (2.7 percentage points), than 199V homozygous ones. 199I homozygous pigs contain 7.3% less protein in the belly and 8.5% more fat in shoulder muscle mass than 199V homozygous pigs. 199I homozygous pigs have also superior functional properties: better gelling (22.8% larger G' value) and emulsion capacities (14 percentage points less of total exuded fluid), and higher curing yield in the belly (6 percentage points more). These data support the adipogenic character of the V199I mutation. The advantages and disadvantages of selecting any of the two PRKAG3 alleles for position 199 are discussed.