[Diagnosis of neurocysticercosis in patients with epilepsy living in the south-western Dominican Republic]. / Diagnóstico de neurocisticercosis en pacientes con epilepsia residentes en el suroeste de la República Dominicana.

INTRODUCTION: Neurocysticercosis (NCC), a possible cause of epilepsy with limited epidemiological data in the Dominican Republic, is endemic in four provinces in the country's south-western region. This study aimed to determine the association between NCC and epilepsy among people living in these endemic regions, and to obtain preliminary data on the prevalence of NCC in these provinces. PATIENTS AND METHODS: A case-control design was used, consisting of 111 patients with epilepsy with unknown causes, and 60 controls without epilepsy or NCC. The diagnosis of NCC was based on computed tomography and magnetic resonance imaging of the skull, as well as Western immunoblotting for serum antibodies using Taenia solium, following the criteria of Del Brutto et al. RESULTS. NCC was found in 27% of the epileptic patients (n = 30/111) and in 5% of the controls (n = 3/60); the probability of the epileptic patients having NCC was seven times higher than the controls (odds ratio = 7.04, 95% confidence interval: 2.04-24.18; p < 0.001). The participants' sociodemographic characteristics, including their age, sex, level of education, occupation, and province of residence presented no statistical significance in terms of their association with NCC. CONCLUSIONS: This study suggests that NCC is strongly associated with epilepsy in the south-western region of the Dominican Republic, and highlights the need for public health measures to improve the prevention, diagnosis and treatment of both diseases.

TITLE: Diagnóstico de neurocisticercosis en pacientes con epilepsia residentes en el suroeste de la República Dominicana.Introducción. La neurocisticercosis (NCC), una posible causa de epilepsia con datos epidemiológicos limitados en la República Dominicana, es endémica en cuatro provincias de la región suroeste. El objetivo de este estudio fue determinar la asociación entre la NCC y la epilepsia en personas que viven en estas regiones endémicas, así como obtener datos preliminares sobre la prevalencia de NCC en estas provincias. Sujetos y métodos. Se utilizó un diseño de casos y controles compuesto por 111 pacientes con epilepsia de causa desconocida y 60 controles sin epilepsia ni NCC. El diagnóstico de NCC se basó en la tomografía computarizada y la resonancia magnética del cráneo, así como en el inmunotransferencia de Western para anticuerpos séricos contra Taenia solium, siguiendo los criterios de Del Brutto et al. Resultados. Se encontró NCC en el 27% de los pacientes con epilepsia (n = 30/111) y en el 5% de los controles (n = 3/60); los casos de epilepsia tenían siete veces más probabilidades de tener NCC que los controles (odds ratio = 7,04, intervalo de confianza al 95%: 2,04-24,18; p < 0,001). Las características sociodemográficas de los participantes, como la edad, el sexo, el nivel de escolaridad, la ocupación y la provincia de residencia no mostraron significación estadística en cuanto a la asociación con NCC. Conclusiones. Este estudio sugiere que la NCC está fuertemente asociada con la epilepsia en la región suroeste de la República Dominicana, y destaca la necesidad de medidas de salud pública para mejorar la prevención, el diagnóstico y el tratamiento de ambas enfermedades.

Assessment of seasonal and annual patterns in phosphorus content in a monitored catchment through a partitioning approach based on hydrometeorological data.

High amounts of phosphorus (P) in rivers come mainly from two sources: fertilizers washed off from agricultural and urban areas by runoff water (non-point sources) and urban and industrial development which are translated in P discharges from wastewater treatment plants (WWTP). This work analyses the content of P in water for nearly 40 years inquiring into the origin of the sources, based on the hypothesis of runoff generation from the detection of river streamflow increases during the P contribution episode and the previous precipitation. For this purpose, the Guadaira River, which is located in the South of Spain and has a drainage surface of 1524 km2, was selected. In this watershed agricultural land use converges with numerous human activities resulting in high pressures on water quality. We found 40% of the P contribution episodes found seem to come from the runoff generated after the heaviest rainfall events, which normally occur between November and May. The remaining 60% of the P contribution episodes were found to be linked to point sources, which become more relevant from June to September, reaching the highest concentration values (6-17 mg/L). The results highlight that the target phosphate concentration value of 0.34 mg PO4/L imposed by the national legislation for a good state following the Water Framework Directive 2000/60/EC is exceeded by 96% of the measurements during the period from 1981 to 2022. On a monthly basis, PO4 loads showed a linear relationship with river streamflow (R2 = 0.94). However, on field measurements scale, a potential relationship between both variables was found, which changed according to the improvement in the wastewater treatment and facilities for 1982-1994, 1995-2017 and 2018-2022. In these three periods, different significant decreasing trends of the P content were found, mainly marked by the setup of each individual WWTP.

Effect of immunonutrition on serum levels of C-reactive protein and lymphocytes in patients with COVID-19: a randomized, controlled, double-blind clinical trial / Efecto de la inmunonutrición sobre los niveles séricos de proteína C-reactiva y linfocitos en pacientes con COVID-19: ensayo clínico doble ciego, controlado y aleatorio

Introduction: patients with COVID-19 undergo changes in leukocyte count, respiratory disorders, and an increase in inflammatory substances. To improve the inflammatory condition, some nutrients can be used, including arginine, omega-3 fatty acids and nucleotides. This study aims to evaluate how oral immunonutrient supplements affects serum C-reactive protein (CRP) levels and lymphocyte count in patients with COVID-19. Methods: in this double-blind clinical trial, we randomized 43 adult patients with COVID-19 to receive a standard high-protein normocaloric supplement (control) or an immunonutrient-enriched supplement (experiment) for 7 days. The primary outcome was to evaluate changes in total lymphocyte count and serum level of CRP. The assessment of risk and nutritional status of these patients was also performed. Results: forty-three patients with mean age of 41.5 (± 1.8) years were followed up, 39.5 % of them women. The mean body mass index was 27.6 (± 0.8) kg/m² and 58.1 % had low nutritional risk. In the experiment group, there was a CRP reduction of 23.6 (± 7.5) mg/L, while in the control branch the decrease was 14.8 (± 12.1) mg/L (p = 0.002). There was an increase in lymphocytes in the experiment group (+367.5 ± 401.8 cells/mm³) and a reduction in the control group (-282.8 ± 327.8 cells/mm³), although there was no statistical significance (p = 0.369). Relative risk (RR) of treatment in reducing CRP by 30 % or more was 4.45 (p < 0.001; 95 % CI, 1.79-11.07). RR in increasing lymphocyte count by 30 % or more was 1.28 (p = 0.327; 95 % CI, 0.67-2.45). Conclusion: we conclude that immunonutrient supplements seem to reduce CRP levels more than standard high-protein normocaloric supplements (AU)

Introducción: los pacientes con COVID-19 sufren cambios en el recuento de leucocitos, trastornos respiratorios y aumento de sustancias inflamatorias. Para mejorar la condición inflamatoria se pueden usar algunos nutrientes, como la arginina, los ácidos grasos omega-3 y los nucleótidos. Este estudio tiene como objetivo evaluar cómo los suplementos de inmunonutrientes orales afectan a los niveles séricos de proteína C-reactiva (PCR) y al recuento de linfocitos en pacientes con COVID-19. Métodos: en este ensayo clínico doble ciego, aleatorizamos a 43 pacientes adultos con COVID-19 para recibir un suplemento normocalórico estándar alto en proteínas (control) o un suplemento enriquecido con inmunonutrientes (experimento) durante 7 días. El resultado primario fue evaluar los cambios en el recuento total de linfocitos y el nivel sérico de PCR. También se realizó la evaluación del riesgo y el estado nutricional de estos paciente. Resultados: cuarenta y tres pacientes con edad media de 41,5 (± 1,8) años fueron seguidos, el 39,5 % de ellos mujeres. El índice de masa corporal medio fue de 27,6 (± 0,8) kg/m² y el 58,1 % tenían bajo riesgo nutricional. En el grupo experimental hubo una reducción de la PCR de 23,6 (± 7,5) mg/L, mientras que en la rama de control la disminución fue de 14,8 (± 12,1) mg/L (p = 0,002). Hubo un aumento de linfocitos en el grupo experimental (+367,5 ± 401,8 células/mm³) y una reducción en el grupo de control (-282,8 ± 327,8 células/mm³), aunque no hubo significación estadística (p = 0,369). El riesgo relativo (RR) del tratamiento para reducir la PCR en un 30 % o más fue de 4,45 (p < 0,001; IC 95 %: 1,79-11,07). El RR en el aumento del recuento de linfocitos en un 30 % o más fue de 1,28 (p = 0,327; IC 95 %: 0,67-2,45). Conclusión: se concluye que los suplementos de inmunonutrientes parecen reducir los niveles de PCR más que los suplementos normocalóricos estándar altos en proteína (AU)

Antibiotic prophylaxis for prevention of spontaneous bacterial peritonitis in liver cirrhosis: systematic review.

BACKGROUND AND AIM: Spontaneous bacterial peritonitis is a potentially life-threatening infection in patients with liver cirrhosis and ascites. Its prevention is vital to improve prognosis of cirrhotic patients. The main objective of this systematic review was to evaluate what is the most efficacious and safest antibiotic prophylactic strategy. METHODS: Studies were located by searching PubMed and Cochrane Central Register of Controlled Trials in The Cochrane Library until February 2019. Randomized controlled trials evaluating primary or secondary spontaneous bacterial peritonitis prophylaxis in cirrhotic patients with ascites were included. The selection of studies was performed in two stages: screening of titles and abstracts, and assessment of the full papers identified as relevant, considering the inclusion criteria. Data were extracted in a standardized way and synthesized qualitatively. RESULTS: Fourteen studies were included. This systematic review demonstrated that daily norfloxacin is effective as a prophylactic antibiotic for the prevention of spontaneous bacterial peritonitis in patients with cirrhosis. Once weekly ciprofloxacin was not inferior to once daily norfloxacin, with good tolerance and no induced resistance. Trimethoprim-sulfamethoxazole and norfloxacin have similar efficacy for primary and secondary prophylaxis of spontaneous bacterial peritonitis, however, trimethoprim-sulfamethoxazole was associated with an increased risk of developing an adverse event. Rifaximin was more effective than norfloxacin in the secondary prophylaxis of spontaneous bacterial peritonitis, with a significant decrease in adverse events and mortality rate. CONCLUSIONS: Continuous long-term selective intestinal decontamination with norfloxacin is the most widely used prophylactic strategy in spontaneous bacterial peritonitis, yet other equally effective and safe options are available.

Beef cattle performance on signal grass pastures deferred and fertilized with nitrogen / Desempenho de bovinos em pastos de capim-braquiária diferidos e adubados com nitrogênio

The effect of four nitrogen levels (0, 40, 80 and 120kg N ha-1), applied before deferment on the beef cattle production and structural variables on Urochloa decumbens (signal grass) were assessed from January to October 2012 and from January to September 2013. A randomized block design with three replicates was adopted, in an arrangement of repeated measures in time (grazing period). An interaction effect between nitrogen level and grazing period was observed on extended-plant height and herbage mass. As the nitrogen levels were increased, extended-plant height, herbage mass, total herbage allowance, and efficiency of conversion of fertilizer into herbage were increased. Throughout the grazing period, pasture height, extended-plant height, percentage of leaves, herbage and morphological components allowance, and percentages of leaves and stems in the herbage apparently selected by the animal decreased. Nitrogen levels had no effect on average daily gain or gain per area in the first year. A fixed deferment period with increasing levels of nitrogen fertilization on signal grass pastures does not influence the average daily gain per animal, reduces the efficiency of the nitrogen fertilizer and negatively changes the structural characteristics of the pasture.(AU)

Foi avaliado o efeito de quatro doses de nitrogênio (0, 40, 80 e 120kg N ha -1 ), aplicadas antes do diferimento, sobre o desempenho de bovinos e as características estruturais de Urochloa decumbens (capim-braquiária), de janeiro a outubro de 2012 e de janeiro a setembro de 2013. Um delineamento de blocos ao acaso foi utilizado em arranjo de medidas repetidas no tempo (período de pastejo). Foi observada interação entre doses de nitrogênio e período de pastejo na altura da planta estendida e na massa de forragem. As doses de nitrogênio incrementaram a altura da planta estendida, a massa de forragem, a oferta de forragem e a eficiência de conversão do nitrogênio em forragem. No decorrer do período de pastejo, a altura do pasto, a altura da planta estendida, a porcentagem de lâminas foliares, a oferta de forragem e dos seus componentes morfológicos e a porcentagem de lâminas e colmos da forragem aparentemente selecionada pelos animais diminuíram. As doses de nitrogênio não exerceram efeito sobre o ganho diário e o ganho diário por área no primeiro ano. O período de diferimento fixo com aumento das doses de nitrogênio em pastos de capim-braquiária não influencia o ganho diário por animal, reduz a eficiência da adubação nitrogenada e afeta negativamente a estrutura do pasto.(AU)

Bone mineral density and lean mass asymmetries are greater in cyclists than non-cyclists.

Cyclists may be at greater risk of developing asymmetrical force and motion patterns than other ground-based athletes. However, functional asymmetries during cycling tend to be highly variable, making them difficult to assess. Dual-energy x-ray absorptiometry (DXA) measurements of areal bone mineral density (aBMD) and lean mass (LM) in the lower limbs may be a more sensitive and consistent method to identify asymmetries in cyclists. The goal of this study was to determine if competitive cyclists have greater levels of asymmetries in the lower body compared to non-cyclists using DXA. A secondary aim was to determine if aBMD and LM asymmetries change over the road cycling season. 17 competitive cyclists and 21 non-cyclist, healthy controls underwent DXA scans. Lower-body asymmetries were greater in cyclists compared to non-cyclists in aBMD and LM for all lower limb segments. However, these asymmetries did not tend to consistently favour a particular side, except for the pelvis having more LM on the dominant side. The were no longitudinal changes in aBMD or LM in the cyclists. Asymmetry analysis via DXA provides evidence that although functional asymmetries during cycling are variable, cyclists have increased lower body LM and aBMD asymmetries compared to non-cyclists.

Liver Donations and Transplants in the State of Paraná, Brazil.

BACKGROUND: The increase in the waiting list for a liver and the high mortality rate of patients with terminal liver disease represent serious public health problems in Brazil. OBJECTIVE: To analyze donations and liver transplants in the State of Paraná, Brazil. METHOD: A cross-sectional study was carried out with data from 3931 reports of deaths due to brain death and 8146 solid organ transplants made available by the State Transplant System of Paraná between 2011 and 2016. The data related to donation and liver transplantation were analyzed using descriptive statistics and inference. RESULTS: A total of 751 (28.9%) liver donations were carried out. Of these, the greatest chance of effectiveness occurred in patients younger than 50 years OR: 1.94 (CI: 1.60-2.34; P < .01) and male OR: 1.27 (CI: 1.06-1.52; P < .01). A total of 720 (8.8%) liver transplants were performed, most of which were funded by the Unified Health System. There was a significant increase in donations and liver transplants over the years. CONCLUSION: Donor numbers and liver transplants increased in the State but did not meet the need for the waiting list within the analyzed period.

Accelerated subcutaneous immunotherapy in pediatric population - Systematic review.

BACKGROUND: Accelerated subcutaneous immunotherapy (SCIT) schedules represent an alternative to conventional SCIT, providing immunotherapy benefits in a shorter period of time. The objectives of this systematic review were to assess clinical and immunological efficacy as well as safety of accelerated SCIT build-up schedules for the treatment of respiratory allergy in pediatric patients. METHODS: Studies were located by searching PubMed, using "immunotherapy" and "desensitization" as keywords. The selection of studies, published from January 1st, 2006, to December 31th, 2015, was performed in two stages: screening of titles and abstracts, and assessment of the full papers identified as relevant, considering the inclusion criteria. Data were extracted in a standardized way and synthesized qualitatively to assess efficacy and safety of accelerated schedules in respiratory allergy. RESULTS: Eleven trials were included: two evaluated rush SCIT and nine assessed cluster SCIT. This review demonstrated that rush and cluster schedules are clinically and immunological efficacious, with faster effect than conventional schedules. No relevant difference with respect to clinical outcomes was noticed between subgroups (pediatric, adult and mixed populations). Regarding safety, most local adverse reactions were mild and there were neither life-threatening systemic reactions nor fatal events. No relevant differences in the incidence and severity of either local or systemic reactions between the accelerated schedule group and control group were registered. CONCLUSIONS: Accelerated SCIT build-up schedules are effective in the treatment of respiratory allergy in pediatric patients, representing a safe alternative to the conventional schedules with the advantage of achieving clinical effectiveness sooner.

Seasonality of the Mediterranean Fruit Fly (Diptera: Tephritidae) on Terceira and Sao Jorge Islands, Azores, Portugal.

Population dynamics studies are very important for any area-wide control program as they provide detailed knowledge about the relationship of Medfly [Ceratitis capitata (Wiedemann)] life cycle with host availability and abundance. The main goal of this study is to analyse seasonality of C. capitata in Terceira and Sao Jorge Islands (Azores archipelago) using field and laboratory data collected during (2010-2014) CABMEDMAC (MAC/3/A163) project. The results from Sao Jorge Island indicate significantly lower male/female ratio than on Terceira Island. This is an important finding specially regarding when stablishing the scenario parameters for a sterile insect technique application in each island. The population dynamics of C. capitata are generally linked with host fruit availability and abundance. However, on Terceira Island fruit infestation levels are not synchronized with the trap counts. For example, there was Medfly infestations in some fruits [e.g., Solanum mauritianum (Scop.)] while in the nearby traps there were no captures at the same time. From this perspective, it is important to denote the importance of wild invasive plants, on the population dynamics of C. capitata, as well important to consider the possibility of having different densities of traps according to the characteristics of each area in order to improve the network of traps surveillance's sensitivity on Terceira Island.

Petal micromorphology and its relationship to pollination.

The characteristics of petal epidermal conical cells affect the quality of the signals perceived by various pollinators. This study aimed to identify variations in micromorphological characteristics of flower petals and their relationship to melittophily, ornithophily and chiropterophily pollination systems. The petals of 11 species were analysed using scanning electron microscopy and optical microscopy and the micromorphological traits were described, measured and compared using Tukey's test, PCA and cluster analysis. Unlike chiropterophily, all melittophilous and some ornithophilous species possessed adaxial epidermal conical cells. Cluster grouping separated chiropterophilous flowers from melittophilous and ornithophilous. PCA analysis showed that the two morphometric profile of conical cells was the attribute that most strongly influenced the grouping of species. When considering the data set of the three pollination systems, melittophilous and ornithophilous plants were more similar to each other than they were to chriopterophilous species. The distance between conical cell apices is an important parameter in interactions with pollinators. This study facilitated recognition of smoothing pollinator resource access through petal micromorphological characteristics. Further research regarding the biometry of micromorphological traits related to pollination is required.

Familial colorectal cancer risk by subsite of primary cancer: a population-based study in Utah.

BACKGROUND: Familial occurrence is common in colorectal cancer (CRC), but whether this increased familial risk differs by colonic subsite of the index patients CRC is not well understood. AIM: To quantify the risk of CRC in first-degree (FDR), second-degree (SDR) and first cousin (FC) relatives of individuals with CRC, stratified by subsite in the colorectum and age at diagnosis. METHODS: Colorectal cancers diagnosed between 1980 and 2010 were identified from the Utah Cancer Registry and linked to pedigrees from the Utah Population Database. Age and gender-matched CRC-free controls were selected to form the comparison group for determining CRC risk in relatives using Cox regression analysis. RESULTS: Of the 18,208 index patients diagnosed with CRC, 6584 (36.2%) were located in the proximal colon, 5986 (32.9%) in the distal colon and 5638 (31%) in the rectum. The elevated risk of CRC in relatives was similar in analysis stratified for CRC colorectal subsites in the index cases. FDR had similarly elevated risk of all site CRC, whether the index patient had cancer in the proximal colon [hazards ratio (HR): 1.85; 95% CI: 1.70-2.02], distal colon (HR: 1.90; 95% CI: 1.73-2.08) or rectum (HR: 1.83; 95% CI: 1.66-2.02) compared to relatives of controls. This risk was consistently greater for FDR when cases developed CRC below the age of 60 years. CONCLUSIONS: Relatives of CRC patients have a similarly elevated risk of CRC regardless of colonic tumour subsite in the index patient, and it is greatest for relatives of younger age index cases.

Identifying rare variants for genetic risk through a combined pedigree and phenotype approach: application to suicide and asthma.

Suicidal behavior is a complex disorder, with evidence for genetic risk independent of other genetic risk factors including psychiatric disorders. Since 1996, over 3000 DNA samples from Utah suicide decedents have been collected and banked for research use through the Utah Medical Examiner. In addition, over 12,000 Utah suicides were identified through examination of death certificates back to 1904. By linking this data with the Utah Population Database, we have identified multiple extended pedigrees with increased risk for suicide completion. A number of medical conditions co-occur with suicide, including asthma, and this study was undertaken to identify genetic risk common to asthma and suicide. This study tests the hypothesis that a particular comorbid condition may identify a more homogeneous genetic subgroup, facilitating the identification of specific genetic risk factors in that group. From pedigrees at increased risk for suicide, we identified three pedigrees also at significantly increased familial risk for asthma. Five suicide decedents from each of these pedigrees, plus an additional three decedents not from these pedigrees with diagnosed asthma, and 10 decedents with close relatives with asthma were genotyped. Results were compared with 183 publicly available unaffected control exomes from 1000 Genomes and CEPH (Centre d'etude du polymorphisme humain) samples genotyped on the same platform. A further 432 suicide decedents were also genotyped as non-asthma suicide controls. Genotyping was done using the Infinium HumanExome BeadChip. For analysis, we used the pedigree extension of Variant Annotation, Analysis and Search Tool (pVAAST) to calculate the disease burden of each gene. The Phenotype Driven Variant Ontological Re-ranking tool (Phevor) then re-ranked our pVAAST results in context of the phenotype. Using asthma as a seed phenotype, Phevor traversed biomedical ontologies and identified genes with similar biological properties to those known to result in asthma. Our top associated genes included those related to neurodevelopment or neural signaling (brain-derived neurotrophic factor (BDNF), neutral sphingomyelinase 2 (SMPD2), homeobox b2 (HOXB2), neural cell adhesion molecule (NCAM2), heterogeneous nuclear ribonucleoprotein A0 (HNRNPA0)), inflammation (free fatty acid receptor 2 (FFAR2)) and inflammation with additional evidence of neuronal involvement (oxidized low density lipoprotein receptor 1 (OLR1), toll-like receptor 3 (TLR3)). Of particular interest, BDNF has been previously implicated in both psychiatric disorders and asthma. Our results demonstrate the utility of combining pedigree and co-occurring phenotypes to identify rare variants associated with suicide risk in conjunction with specific co-occurring conditions.

Sphyga: a multiparameter open source tool for fabricating smart and tunable hydrogel microbeads.

Hydrogel microbeads are used in many biological applications, particularly for cell, protein or drug encapsulation. Although there are several methods for fabricating microbeads with controlled shapes and dimensions, many are limited to a small range of materials or sizes. We describe a compact open source tool-the spherical hydrogel generator (Sphyga)-for the fabrication of highly reproducible hydrogel based microbeads with predictable shapes and diameters ranging from 100 to 2000 µm. The unique feature of the system is the ability to modulate multiple parameters independently, so as to create a wide range of working conditions for fabricating tailored microbeads. Hence, by combining the different fabrication parameters, hydrogel beads with chosen shapes, sizes and materials can be generated with Sphyga. A multiparameter working-window was obtained by fixing the concentration of the base material, alginate, and varying the viscosity of the solution along with Sphyga's fabrication parameters (needle size, external air pressure, and material outflow). To validate the multiparameter working window, components such as proteins, cells, dyes and nanoparticles were also used to fabricate composite microbeads. The results show that the architecture of hydrogel microbeads can be engineered by considering the viscosity of the initial solution, which depends principally on the pH and composition of alginate solution. Coupled with Sphyga's multiple working parameters, material viscosity can then be used to tune hydrogel domains and thereby generate complex biologically relevant microenvironments for many biomedical applications.

Genetic risk factors in two Utah pedigrees at high risk for suicide.

We have used unique population-based data resources to identify 22 high-risk extended pedigrees that show clustering of suicide over twice that expected from demographically adjusted incidence rates. In this initial study of genetic risk factors, we focused on two high-risk pedigrees. In the first of these (pedigree 12), 10/19 (53%) of the related suicides were female, and the average age at death was 30.95. In the second (pedigree 5), 7/51 (14%) of the suicides were female and the average age at death was 36.90. Six decedents in pedigree 12 and nine in pedigree 5 were genotyped with the Illumina HumanExome BeadChip. Genotypes were analyzed using the Variant Annotation, Analysis, and Search program package that computes likelihoods of risk variants using the functional impact of the DNA variation, aggregative scoring of multiple variants across each gene and pedigree structure. We prioritized variants that were: (1) shared across pedigree members, (2) rare in other Utah suicides not related to these pedigrees, (3) < or = 5% in genotyping data from 398 other Utah population controls and (4) < or = 5% frequency in publicly available sequence data from 1358 controls and/or in dbSNP. Results included several membrane protein genes (ANO5, and TMEM141 for pedigree 12 and FAM38A and HRCT1 for pedigree 5). Other genes with known neuronal involvement and/or previous associations with psychiatric conditions were also identified, including NFKB1, CASP9, PLXNB1 and PDE11A in pedigree 12, and THOC1, and AUTS2 in pedigree 5. Although the study is limited to variants included on the HumanExome BeadChip, these findings warrant further exploration, and demonstrate the utility of this high-risk pedigree resource to identify potential genes or gene pathways for future development of targeted interventions.

The importance of ultrasound findings in the study of anal pain.

OBJECTIVE: Endoanal ultrasonography can detect organic causes of anal pain without pathology on physical examination. The aim of this study is to evaluate the importance of endoanal ultrasonography in the diagnosis and therapeutic management of idiopathic and functional anal pain. MATERIAL AND METHODS: Retrospective study, between 15 March 2005 and 15 June 2008, of all patients with proctalgia and normal examination or with alterations not responsible for anal pain at proctologic exam that have undergone an endoanal ultrasonography. RESULTS: A total of 90 patients were analyzed, with a mean age of 50.5 years, 58% were female. Twenty-three patients had functional anal pain clinic criteria. Endoanal ultrasonography revealed alterations in 49% of patients. The primary findings were changes in sphincters in 14 patients, followed by anal sepsis in 12 patients, anal fissure in 10 patients, perirectal lesions in 6 patients and ulcer of the anal canal in 2 patients. Of the patients with sphincter defects, 5 patients had criteria of chronic anal pain. In this group of patients, no differences were found in manometric and defecographic results between the different ultrasound abnormalities. CONCLUSIONS: The endoanal ultrasonography detected occult organic lesions to proctologic examination, in half the patients with anal pain. Ultrasound abnormalities were found in 22% of patients with functional anal pain. However, there was no correlation between ultrasound findings and physiological studies, and therefore could not find etiological or pathogenic factors of functional anal pain.

Importancia de los hallazgos ecográficos en el dolor anal / No disponible

Objetivo: la ecografía endoanal puede detectar causas orgánicasen el dolor anal sin patología en la exploración física. El objetivode este estudio es evaluar la importancia de la ecografía endoanalen el diagnóstico y en el abordaje terapéutico del dolor analidiopática y funcional.Material y métodos: estudio retrospectivo realizado entre el15 de marzo de 2005 y el 15 de junio de 2008, en todos los pacientesreferenciados para hacerse la ecografía endoanal, debido adolor anal con exploración física normal o sin alteraciones que justifiquenel dolor anal.Resultados: analizamos 90 pacientes con edad media de50,5 años, 58% mujeres. Veintitrés pacientes presentaban criteriosde dolor anal funcional. La ecografía endoanal reveló alteracionesen el 49% de los casos. Las alteraciones más frecuentesfueron las alteraciones esfinterianas, en 14 pacientes,seguido de sepsis anal, en 12 pacientes, de fisura anal, en 10pacientes, de las lesiones perirrectales, en 6 pacientes y de úlceradel canal anal, en 2 pacientes. De los pacientes con alteracionesesfinterianas, 5 pacientes tenían criterios de dolor crónico.En este grupo de pacientes, no se encuentran diferenciasen los hallazgos manométricos y defecográficos entre las diferentesalteraciones ecográficas.Conclusiones: la ecografía endoanal detectó lesiones estructuralesno sospechadas en el examen físico en la mitad de los enfermoscon dolor anal. Se han encontrado alteraciones ecográficasen el 22% de los pacientes con dolor anal funcional. Sinembargo, no se encontró correlación entre los hallazgos ecográficosy los estudios fisiológicos, así que no fue posible encontrar factoresetiológicos o patogénicos del dolor anal funcional(AU)

Objective: endoanal ultrasonography can detect organic causesof anal pain without pathology on physical examination. Theaim of this study is to evaluate the importance of endoanal ultrasonographyin the diagnosis and therapeutic management of idiopathicand functional anal pain.Material and methods: retrospective study, between 15March 2005 and 15 June 2008, of all patients with proctalgiaand normal examination or with alterations not responsible foranal pain at proctologic exam that have undergone an endoanalultrasonography.Results: a total of 90 patients were analyzed, with a meanage of 50.5 years, 58% were female. Twenty-three patients hadfunctional anal pain clinic criteria. Endoanal ultrasonography revealedalterations in 49% of patients. The primary findings werechanges in sphincters in 14 patients, followed by anal sepsis in 12patients, anal fissure in 10 patients, perirectal lesions in 6 patientsand ulcer of the anal canal in 2 patients. Of the patients withsphincter defects, 5 patients had criteria of chronic anal pain. Inthis group of patients, no differences were found in manometricand defecographic results between the different ultrasound abnormalities.Conclusions: the endoanal ultrasonography detected occultorganic lesions to proctologic examination, in half the patientswith anal pain. Ultrasound abnormalities were found in 22% ofpatients with functional anal pain. However, there was no correlationbetween ultrasound findings and physiological studies, andtherefore could not find etiological or pathogenic factors of functionalanal pain(AU)

[Intracranial trigeminal schwannoma with extension to infratemporal fossa, parapharyngeal space, orbit, maxillary sinus and nasal fossa]. / Schwannoma trigeminal intracraneal con extensión a la fosa infratemporal, espacio parafaríngeo, órbita, seno maxilar y fosa nasal. A propósito de un caso.

Schwannomas reach 8 to 10% of all intracranial tumors. Most originate at the vestibular root of VIII cranial nerve, but trigeminal tumors are infrequent. We present the case of a patient admitted at the National Institute of Neurology and Neurosurgery "Manuel Velasco Suárez" (Mexico City) with a mass occupying the infratemporal fossa with involvement of nearby structures. Schwannomas with extension to the infratemporal fossa are rare. We review the anatomy of this region, the surgical approaches, which have been used and propose a different approach.