Effects of androgen deprivation therapy on elderly men with high-risk prostate cancer: PROSARC observational study.

INTRODUCTION: Prostatic carcinoma (PC) is a frequent neoplasm in elderly patients. Although androgen deprivation is associated with survival benefits, it is also related to adverse effects such as osteoporosis, frailty, or sarcopenia, which can negatively affect the patient's quality of life. This study aims to quantify and evaluate the prevalence of osteoporosis, frailty, or sarcopenia in elderly PC patients before and after androgen deprivation. We present data from an interim analysis. MATERIALS AND METHODS: PROSARC is a national (Spain) prospective observational study (May-2022-May-2025) still in progress in 2 hospitals. It includes patients with high-risk PC, aged ≥70 years, non-candidates for local treatment and scheduled to start androgen deprivation therapy. The following variables are analyzed: comorbidity, frailty (Fried frailty phenotype criteria), osteoporosis, sarcopenia (EWGSOP2), fat mass and muscle mass, before treatment and after 6 months of follow-up. RESULTS: A 6-month follow-up was completed by 12/25 included patients (mean age, 84 years), with a high baseline prevalence of pre-frailty/frailty (67.7%), sarcopenia (66.7%) and osteoporosis (25%). Treatment did not significantly alter these variables or comorbidity. We observed changes in body mass index (p=0.666), decreased mean value of appendicular muscle mass (p=0.01) and increased percentage of fat mass (p=0.012). CONCLUSION: In patients with high-risk PC, advanced age and a considerable prevalence of osteoporosis, frailty and sarcopenia, androgen deprivation (ADT; 6 months) produces decreased muscle mass without impact on the incidence of the known adverse effects of androgen deprivation.

Utilidad de la quimioterapia neoadyuvante en el carcinoma vesical músculo invasivo no metastásico / Usefulness of neoadjuvant chemotherapy in non-metastatic muscle-invasive bladder cancer

Objetivo: Analizamos el perfil de pacientes candidatos a quimioterapia neoadyuvante (QTn) en estadio pT2-4aN0M0, la tolerabilidad y adherencia de nuestro protocolo basado en cisplatino y los resultados oncológicos.Material y métodosEstudio observacional de cohortes retrospectivo que incluye a pacientes con diagnóstico de carcinoma vesical músculo infiltrante tratados con QTn. Se analizaron las características clínicas, histopatológicas, terapéuticas y evolutivas de los pacientes. El uso de la QTn se evaluó mediante la respuesta completa en la pieza quirúrgica (pT0). Este y otros factores anatomopatológicos se relacionaron con la supervivencia global y el tiempo libre de progresión.ResultadosIncluimos a 90 pacientes con carcinoma vesical músculo invasivo (estadio clínico T2a-T4aN0M0) que recibieron algún esquema de QTn basado en cisplatino, entre enero de 2011 y diciembre de 2018, antes del tratamiento quirúrgico radical. El 40% de los pacientes presentaron alguna reacción adversa al tratamiento, con un cumplimiento del protocolo de QTn del 92,2%. No se presentaron muertes relacionadas con el tratamiento sistémico y ninguna reacción adversa al tratamiento imposibilitó la realización de la cistectomía radical. Tras la cistectomía radical, se objetivó la presencia de respuesta completa (pT0) en 20 pacientes (21%), un estadio inferior en pieza quirúrgica ( p = 0,012), en enfermos con afectación ganglionar respecto a pN0 (65,4 vs. 28,2 meses; p=0,014) y en aquellos con bordes quirúrgicos afectos respecto a los que presentaban márgenes libres de tumor (63,5 vs. 8,5 meses; p=0,021).ConclusiónLa selección adecuada de los pacientes con carcinoma vesical músculo infiltrante ha mostrado una buena tolerancia a la QTn, con una alta tasa de cumplimiento previo a la CR. La mejoría en la tasa de respuesta completa implica una mayor supervivencia en este grupo de pacientes. La afectación ganglionar y los bordes quirúrgicos positivos son factores pronósticos importantes. (AU)

Objective: We analyzed the profile of patients who were candidates for neoadjuvant chemotherapy (NACT) in stage pT2-4aN0M0, the tolerability and adherence of our cisplatin-based protocol and oncological outcomes.Material and methodsRetrospective observational cohort study including patients diagnosed with muscle-invasive bladder carcinoma treated with NACT. Clinical, histopathological, therapeutic and evolutionary characteristics of the patients were analyzed. The use of NACT was evaluated by the complete response in the surgical specimen (pT0). This and other pathological factors were related to overall survival and progression-free survival.ResultsWe included 90 patients with muscle-invasive bladder carcinoma (clinical stage T2a-T4aN0M0) who received a cisplatin-based NACT regimen between January 2011 and December 2018, prior to radical surgery. Forty percent of patients presented an adverse reaction, with a compliance with the NACT regimen of 92.2%. There were no deaths related to systemic treatment and no adverse reaction to treatment made radical cystectomy impracticable. After performing radical cystectomy, the presence of complete response (pT0) was observed in 20 patients (21%), lower stage in the surgical specimen ( P=0.012), in patients with lymph node involvement compared to pN0 (65.4 vs. 28, 2 months, P=0.014) and in those with positive surgical margins compared to those with tumor-free margins (63.5 vs. 8.5 months, P=0.021).ConclusionThe adequate selection of patients with muscle-invasive bladder carcinoma has shown a good tolerance to NACT, with a high compliance rate prior to RC. The improvement in the complete response rate implies a greater survival in this group of patients, with lymph node involvement and positive surgical margins being important prognostic factors. (AU)

ANOVA to Compare Three Methods to Track COVID-19 in Nine Countries / ANOVA en la comparación de tres métodos para rastrear COVID-19 en nueve países

ABSTRACT A new coronavirus denominated first 2019-nCoV and later SARS-CoV-2 was found in Wuhan, China in December of 2019. This paper compares three mathematical methods: nonlinear regression, SIR, and SEIR epidemic models, to track the covid-19 disease in nine countries affected by the SARS-CoV-2 virus, to help epidemiologists to know the disease trajectory, considering initial data in the pandemic, mainly 100 days from the beginning. To evaluate the results obtained with the three methods one-way ANOVA is applied. The average of predicted infected cases with SARS-CoV-2, obtained with the mentioned methods was: for United States of America 1,098,508, followed by Spain with 226,721, Italy with 202,953, France with 183,897 United Kingdom with 182,190, Germany with 159,407, Canada with 58,696, Mexico with 50,366 and Argentina with 4,860 in average. The one-way ANOVA does not show a significant difference among the results of the projected infected cases by SARS-CoV-2, using nonlinear regression, SIR, and SEIR epidemic methods. The above could mean that initially any method can be used to model the pandemic course.

RESUMEN Un nuevo coronavirus denominado primero 2019-nCoV y más tarde SARS-CoV-2 fue encontrado en Wuhan, China en diciembre de 2019. El objetivo de este trabajo es comparar tres métodos matemáticos: regresión no lineal, modelos epidemiológicos SIR y SEIR, para rastrear la enfermedad del COVID-19 en nueve países infectados por el virus SARS-CoV-2, con el propósito de ayudar al epidemiólogo a conocer el curso de la pandemia, considerando principalmente sus primeros 100 días. Para evaluar los resultados obtenidos de la aplicación de los tres métodos, se aplicó ANOVA de una vía. El número promedio de casos infectados con SARS-CoV-2, obtenidos con los tres métodos descritos son: para Estados Unidos 1,098,508, seguido de España con 226,721, Italia con 202,953, Francia con 183,897 Reino Unido con 182,190, Alemania con 159,407, Canadá con 58,696, México con 50,366 y Argentina con 4,860 en promedio. El ANOVA de una vía no muestra diferencias significativas entre los resultados de los casos infectados proyectados por SARS-CoV-2, utilizando la regresión no lineal y los métodos SIR and SEIR. Lo anterior podría señalar que cualquiera de los tres métodos estudiados puede modelar el curso de la pandemia en las condiciones descritas para cada uno.

Usefulness of neoadjuvant chemotherapy in non-metastatic muscle-invasive bladder cancer. / Utilidad de la quimioterapia neoadyuvante en el carcinoma vesical músculo invasivo no metastásico.

OBJECTIVE: We analyzed the profile of patients who were candidates for neoadjuvant chemotherapy (NACT) in stage pT2-4aN0M0, the tolerability and adherence of our cisplatin-based protocol and oncological outcomes. MATERIAL AND METHODS: Retrospective observational cohort study including patients diagnosed with muscle-invasive bladder carcinoma treated with NACT. Clinical, histopathological, therapeutic and evolutionary characteristics of the patients were analyzed. The use of NACT was evaluated by the complete response in the surgical specimen (pT0). This and other pathological factors were related to overall survival and progression-free survival. RESULTS: We included 90 patients with muscle-invasive bladder carcinoma (clinical stage T2a-T4aN0M0) who received a cisplatin-based NACT regimen between January 2011 and December 2018, prior to radical surgery. Forty percent of patients presented an adverse reaction, with a compliance with the NACT regimen of 92.2%. There were no deaths related to systemic treatment and no adverse reaction to treatment made radical cystectomy impracticable. After performing radical cystectomy, the presence of complete response (pT0) was observed in 20 patients (21%), lower stage in the surgical specimen (

Inflammatory markers as prognostic factors in metastatic castration-resistant prostate cancer. / Marcadores inflamatorios como factor pronóstico en el cáncer de próstata resistente a la castración metastásico.

INTRODUCTION: Inflammatory markers have prognostic value in various tumors due to the role of inflammatory phenomena at different stages of tumor development. The aim of this study is to demonstrate the prognostic value of these markers, as well as other clinical and analytical variables in patients with metastatic castration-resistant prostate cancer (mCRPC). MATERIAL AND METHODS: Prospective cohort study carried out on 80 patients diagnosed with mCRPC. Clinical and analytical data were collected, and the following inflammatory markers were estimated: Absolute Neutrophil Count (ANC), Neutrophil-Lymphocyte Ratio (NLR), Total Platelet Count (TPC), Platelet-Lymphocyte Ratio (PLR), Lymphocyte-Monocyte Ratio (LMR) and Systemic Inflammation Index (SII). The values of albumin, hemoglobin (Hb), alkaline phosphatase (ALP) and lactate dehydrogenase (LDH) were also determined. RESULTS: Patients with ANC>7500, NLR>3, PLR>150, LMR>3 and/or SII>535,000, presented significantly lower median survival time than the remaining patients, and TPC was the only marker which did not show a significant association. Moreover, NLR, PLR and SII were inversely correlated with survival time. Patients with hypoalbuminemia, anemia, and elevated LDH values had significantly lower median survival time. Albumin and hemoglobin were directly correlated to overall survival time. The need for analgesia was also associated with shorter survival. CONCLUSION: The values of certain inflammatory markers are associated with shorter survival time in patients with mCRPC, and their use in clinical practice can be considered to evaluate the prognosis and estimate survival.

Leukocyte and platelet counts as prognostic values of testicular germ cell tumours. / Valor pronóstico del recuento de leucocitos y plaquetas, en tumores testiculares de células germinales.

INTRODUCTION: The immune system plays an essential role in the organism's response to cancer. Several haematological markers can influence prognosis and survival of patients. The objective of this study is to determine their prognostic value in testicular germ cell tumours. MATERIAL AND METHODS: Retrospective cohort study on 164 patients with germ cell tumours. Clinical, analytical, histological and evolutionary data were collected. The absolute neutrophil and absolute platelet counts, neutrophil-lymphocyte (NLR), platelet-lymphocyte and lymphocyte-monocyte ratios were estimated at diagnosis. The association that these markers can have with the classic prognostic factors, as well as their effect on prognosis and survival, have been analysed. RESULTS: 17.7% had NLR>4 and 14.6% ANC>8000/µL. These patients presented higher percentages of residual disease and stage II-III tumours. Patients with elevated absolute neutrophil showed also higher percentages of progression and exitus. 7.3% presented absolute platelet >400000/µL. These patients obtained higher rates of residual disease, nonseminomatous and stage III tumours. 28.4% showed platelet-lymphocyte values>150. This data was associated to higher percentages of residual disease, progression, stage II and III tumours and seminomatous tumours. 83.3% had an lymphocyte-monocyte >3. These patients presented: higher tumour markers in normal range, decreased residual disease rates and higher percentages of stage I and II tumours. The mean survival time was shorter in patients with NLR>4 and absolute neutrophil >8,000/µL. The ROC curves showed significance in the prediction of progression and values of lymphocyte-monocyte >3, and prediction of survival and values NLR>4. CONCLUSION: Our results indicate that the analysed haematological markers are associated with poor prognoses at diagnosis. Therefore, their use in daily clinical practice can be a valuable tool in the diagnosis and prognosis of patients with testicular germ cell tumours.

Population data for 21 autosomal STR loci (GlobalFiler kit) in two Mexican-Mestizo population from the northwest, Mexico.

Mexican Mestizos (admixed) have been poorly studied for short tandem repeats (STRs) included for new human identification (HID) kits, such as the GlobalFiler PCR Amplification kit. Therefore, this kit was analyzed in 784 unrelated volunteers from the city of Tijuana (n = 381) and Sonora state (n = 403) in the northwest region of Mexico. Allele frequencies, forensic parameters, Hardy-Weinberg equilibrium, and linkage equilibrium were estimated or evaluated for 21 autosomal STRs, respectively. For this HID kit, the combined power of discrimination (PD) was > 0.99999999999999 (RMP range = 1.23 to 3.0 × 10-25), and the combined power of exclusion (PE) were 0.999999993 and 0.999999997 in Tijuana city and Sonora state, respectively. Interpopulation analyses based on STRs of the GlobalFiler kit was performed, including four Mexican Native American, one Mexican Mestizo, and four ethnic American populations (USA), previously studied. The low-but significant-differentiation observed among Mexican Mestizos (FST = 0.0969%; p = 0.02584) justifies the creation of STR databases for HID purposes in this country. In brief, results allow the confident use of the GlobalFiler kit for HID purposes in Mestizo population from the Northwest region Mexico.

Scrotal tumors. / Tumores escrotales.

OBJECTIVE: Basal cell carcinoma and leiomyoma of the scrotum are rare. We describe three cases of scrotal tumors and provide information regarding this disease. METHODS: Between 2000 and 2014, 3 patients with scrotal tumors were diagnosed and treated at our institution. A review was performed using the clinical records of these patients. RESULTS: We describe two cases of basal cell carcinoma of the scrotum in men 72 and 71 year old, who presented with a left scrotal lesion that was excised and the pathological diagnosis was basal cell carcinoma. In one patient, surgical margin was affected and a recurrent basal cell carcinoma appeared. It was excised with enlargement of surgical margin. We also describe a case of scrotal leiomyoma in a 48 year old man with an elastic, firm and nontender lesion in the right scrotum. During follow-up the patients remain clinically asymptomatic. CONCLUSIONS: Scrotal lesions in the elderly should be excised and submitted for pathological examination. The basal cell carcinoma of the scrotum appears as a plaque, nodule or ulcer. Long-term surveillance is recommended for these patients. Leiomyoma of the scrotum is presented as a non-ulcerative nodule and his treatment is complete surgical excision.

Collateral urethral duplication in an adult.

OBJECTIVE: Congenital anomalies or malformations of the urethra that involve number are extremely rare and only 7 cases of trifurcation of the urethra and under 500 cases of urethral duplication have been described. METHODS: In the case we present, urethral duplication was diagnosed in adulthood, even though glans malformation with 2 urethral orifices was clearly evident and only 1 was functional. RESULTS: The condition is usually diagnosed in childhood due to the presence of 2 urethral meatus or from double stream if both are functional; at other times, the condition is diagnosed from complications that trigger infections or obstruction or if it is associated with more extensive malformations. CONCLUSIONS: Urethral duplication is an extremely rare birth defect, and diagnosis in adulthood is even more uncommon. No single embryologic argument explains all the anatomic variants of urethral duplication. The treatment of the urethral duplication should be individualized according to the type of duplication and the clinical symtoms.

Introducing improvements in the mass rearing of the housefly: biological, morphometric and genetic characterization of laboratory strains.

Understanding the biology of the housefly (Musca domestica L.) is crucial for the development of mass-rearing protocols in order to use this insect as a degradation agent for livestock waste. In this study, the biological and genetic differences between different laboratory strains of M. domestica were analysed. Additionally, hybrids were obtained by mixing the strains and their biological parameters were also measured. The three strains of M. domestica presented differences in their biological and morphological parameters, the main differences were: size, egg production and developmental time. The strain A (specimens from Central Europe) had the best qualities to be used in mass-rearing conditions: it produced the largest quantities of eggs (5.77±0.38 eggs per female per day), the individuals were larger (12.62±0.22 mg) and its developmental time was shorter (15.22±0.21 days). However, the strain C (specimens from SW Europe) produced the fewest eggs (3.15±0.42 eggs per female per day) and needed 18.16±0.49 days to develop from larva to adult, whilst the females from strain B (from South America) produced 4.25±0.47 eggs per day and needed 17.11±0.36 days to complete its development. Genetic analysis of the original laboratory strains showed four different mtDNA cytochrome c oxidase subunit I haplotypes. Statistical parsimony network analysis showed that the SW Europe and South-American strains shared haplotypes, whereas the Central Europe strain did not. Upon hybridizing the strains, variations in egg production and in developmental time were observed in between hybrids and pure strains, and when mixing Central European and South-American strains only males were obtained.

Papel de las proteínas quinasas activadas por mitógenos (MAPK) en el carcinoma de células renales esporádico / Role of Mitogen-Activated Protein Kinase (MAPK) in the Sporadic Renal Cell Carcinoma

Contexto: Últimamente, basándose en la implicación del gen supresor vhl en los casos de carcinoma de células renales (CCR), se ha evaluado la implicación de la ruta de señalización entre pVHL y el factor inducible por hipoxia 1 alfa (HIF-1α), ante la necesidad de encontrar nuevos marcadores diagnósticos, pronósticos y de respuesta a fármacos. Síntesis de evidencia: La sobreexpresión de HIF-1α confiere mejor pronóstico en pacientes afectos de CCR de tipo células claras (ccRCC). Además HIF-1α regula otros genes, concretamente el de la anhidrasa carbónica IX (CA-IX), cuya sobreexpresión es prácticamente exclusiva de los ccRCC y su determinación útil para el diagnóstico de este subtipo. Sin embargo, no se ha demostrado la implicación de CA-IX ni en el pronóstico ni en la respuesta a inmunomoduladores o antiangiogénicos. Ello hace necesario la evaluación global de toda esta ruta: pVHL → HIF-1α → CA-IX, e incluso el análisis de otras proteínas y vías de señalización que también controlan la actividad de HIF-1α. En este último caso, las MAPK, son críticas en la activación de HIF-1α, existiendo evidencias a nivel experimental del control sobre su actividad, aunque no se ha establecido su papel clínico como biomarcador. Si bien está demostrado el papel de las MAPK en los fenómenos de resistencia a quimio y radioterapia convencional, no lo está en la respuesta a sorafenib, dato llamativo si tenemos en cuenta que es inhibidor de varias proteín quinasas. Recientemente se ha observado que las MAPK pueden estar implicadas en la respuesta a distintas terapias, incluidas las basadas en inhibidores de tirosín quinasa. Conclusiones: La confirmación de estos datos supondrá una explicación a la variación observada entre pacientes, que con una misma alteración funcional del gen vhl presentan un distinto comportamiento biológico y clínico, y a una mejor selección de terapias no quirúrgicas (AU)

Context: Only on the basis of the involvement of the vhl suppressor gene in the cases of renal cell carcinomas (RCC), the involvement of the signaling pathway between the pVHL and the Hypoxia inducible factor 1, alpha (HIF-1α) has been evaluated because of the need to find new diagnostic and prognostic and response to drugs markers. Evidence synthesis: The overexpression of HIF-1α confers better prognosis in clear cell type RCC (ccRCC). Furthermore, HIF-1α regulates other genes, specifically that of the carbon anhydrase IX (CA-IX), whose overexpression is practically only of the ccRCC and its determination is useful for this subtype. However, the involvement of the CA-IX has not been demonstrated in the prognosis or in the response to immunomodulators or antiangiogenics. Therefore, it is necessary to make a global evaluation of all this pathway: pVHL → HIF-1α → CA-IX, and even the analysis of other proteins and signaling pathways that also control the HIF-1α activity. In the latter case, the MAPK are critical in the HIF-1α activation, there being evidence on the experimental level of the control on its activity. although its clinical role as a biomarkers has not been established. Although the role of the MAPK in the phenomena of resistance to conventional chemotherapy and radiotherapy has been demonstrated, it has not been demonstrated in response to sorafenib, an important piece of information if we consider that it is an inhibitor of several protein kinases. Recently, it has been observed that the MAPK may be involved in the responses to different therapies, included those based on tyrosine kinase inhibitors. Conclusions: The confirmation of these data would suppose an explanation of the variation observed between patients who, with the same functional alteration of the vhl gene, have a different biological, clinical behavior and better selection of non-surgical therapies (AU)

[Role of mitogen-activated protein kinase (MAPK) in the sporadic renal cell carcinoma]. / Papel de las proteínas quinasas activadas por mitógenos (MAPK) en el carcinoma de células renales esporádico.

CONTEXT: Only on the basis of the involvement of the vhl suppressor gene in the cases of renal cell carcinomas (RCC), the involvement of the signaling pathway between the pVHL and the Hypoxia inducible factor 1, alpha (HIF-1α) has been evaluated because of the need to find new diagnostic and prognostic and response to drugs markers. EVIDENCE SYNTHESIS: The overexpression of HIF-1α confers better prognosis in clear cell type RCC (ccRCC). Furthermore, HIF-1α regulates other genes, specifically that of the carbon anhydrase IX (CA-IX), whose overexpression is practically only of the ccRCC and its determination is useful for this subtype. However, the involvement of the CA-IX has not been demonstrated in the prognosis or in the response to immunomodulators or antiangiogenics. Therefore, it is necessary to make a global evaluation of all this pathway: pVHL → HIF-1α → CA-IX, and even the analysis of other proteins and signaling pathways that also control the HIF-1α activity. In the latter case, the MAPK are critical in the HIF-1α activation, there being evidence on the experimental level of the control on its activity. although its clinical role as a biomarkers has not been established. Although the role of the MAPK in the phenomena of resistance to conventional chemotherapy and radiotherapy has been demonstrated, it has not been demonstrated in response to sorafenib, an important piece of information if we consider that it is an inhibitor of several protein kinases. Recently, it has been observed that the MAPK may be involved in the responses to different therapies, included those based on tyrosine kinase inhibitors. CONCLUSIONS: The confirmation of these data would suppose an explanation of the variation observed between patients who, with the same functional alteration of the vhl gene, have a different biological, clinical behavior and better selection of non-surgical therapies.

Functional analysis of CYP1B1 mutations and association of heterozygous hypomorphic alleles with primary open-angle glaucoma.

Glaucoma is an inherited complex and heterogeneous disease, and one of the most prevalent causes of definitive blindness in the world. Recent reports have indicated that heterozygous mutations of the CYTOCHOROME P4501B1 (CYP1B1) gene are present in 4-10% of patients with primary open-angle glaucoma (POAG). To further evaluate the role of CYP1B1 mutations in POAG we extended our previous association study and carried out a functional analysis of the mutations identified by polymerase chain reaction (PCR) DNA sequencing of the three exons of the gene in a total of 245 unrelated Spanish patients and 326 control subjects. Eight of nine different mutations identified in these patients were cloned and functionally assessed by measuring ethoxyresorufin O-deethylation activity and CYP1B1 stability in transiently transfected HEK-293T cells. All these mutants showed reduced catalytic activity, ranging from 20% to 60% of wild-type and/or decreased protein stability and, therefore, they were classified as hypomorphic alleles. No null alleles were identified in these patients. We found heterozygous hypomorphic CYP1B1 mutations in 17 (6.7%) patients and in seven controls (2.1%) showing that these mutations are associated with an increased risk of POAG (p = 0.005; odds ratio = 3.2; 95% confidence interval = 1.30-9.19). Our data suggest that hypomorphic CYP1B1 mutations are, to date, the main known genetic risk factor in POAG.

VHL protein alterations in sporadic renal cell carcinoma.

AIMS: The vhl gene is a tumour suppressor gene implicated in renal tumorigenesis in both familial and sporadic renal cell carcinoma (RCC). Alterations in the gene may modify its suppressor function and allow the formation of renal tumours. The purpose of this study was to determine the existence of vhl gene mutations in renal tumour tissue among patients with sporadic RCC and to assess the effects on the structure of the VHL protein. MATERIALS AND METHODS: This was an observational, analytical and descriptive study of 96 patients who had undergone surgery for sporadic RCC. In surgical specimens of tumour tissue, the three exons of the vhl gene were amplified by polymerase chain reaction and subjected to automatic sequencing. The consequences of the mutations detected on the VHL protein were analysed, taking into account the physical and chemical properties of the amino acids changed by the mutations, the location of the alterations in the protein sequence, the degree of conservation throughout evolution, and prediction of the secondary structure of the protein. RESULTS: In total, 22 vhl gene mutations were detected in 21 (21.9%) patients; in particular, 13 exonic point mutations consisting of 11 sense mutations, one silent mutation and one missense mutation, plus five exon deletions and one insertion. The remaining three were intronic mutations. All changes occurred in protein functional domains and in regions that have been well conserved throughout evolution. Two-thirds of the intronic mutations were considered relevant for protein function. Among the mutations detected, 72.7% were considered capable of compromising the VHL protein suppressor function. CONCLUSIONS: Mutations in the vhl gene result in amino acid changes in the protein that usually occur at important functional sites that have been conserved throughout evolution and where the binding domains for other proteins are located and exert their suppressor function.

Prevalencia de las úlceras por presión en una residencia asistida de mayores / Prevalence of pressure ulcers in an assisted residence for the elderly

Se recogieron datos de 282 residentes distribuidos en las diferentes áreas asistenciales de una residencia asistida de mayores, con el objetivo de analizar la prevalencia de lesiones por presión y sus características, así como el estado funcional y psíquico de los usuarios para poder realizar un estudio descriptivo de su situación actual.Se observó una prevalencia del 13,47% de UPP con una mayor presencia en talones y una media de edad de 82,93 años. Además, se analizaron factores que aumentan el riesgo de aparición de UPP, con especial atención a la presencia de incontinencia, uso de suplementos nutricionales y a las medidas de prevención como cambios posturales y colchones antiescaras

We made a survey and collected data from 283 people distributed in the different welfare areas of an assisted residence for the elderly in order to analyse the prevalence of pressure ulcers as well as their functional and psychic conditions of the users to develop a descriptive report of their current situations. A prevalence percentage of 13,47 was found, the sores in their heels being the most spread ones and within people at the average age of 82,93. Besides, there were analyzed factors that increase the risk of PUs appearance with special attention to the presence of incontinence, use of nutritional supplements and the prevention measures as position changes and no injure mattresses