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Objective: To determine the association between psychotic experiences and nonpsychotic mental disorders in the general population. Methodology: Analytical prevalence study with secondary information source applied in the general population aged 15 to 65 years old, randomly selected by probabilistic sampling. The instrument for collecting the information was the Composite International Diagnosis Interview (CIDI), which diagnoses 23 mental disorders according to the DSM-IV criteria (Diagnostic and Statistical Manual of Mental Disorders). Sociodemographic and psychiatric clinical variables were assessed, but the main variable evaluated consisted in six psychotic experiences (hallucinations and delusions). The primary study was approved by the University Research and Ethics Committee. The p-value

Traumatic events and violence are widespread public health problems. They do not have limits related to age, sex or socioeconomic level. The prevalence of mental disorders and sociodemographic characteristics were compared in the context of traumatic events and types of violence in the general population.Observational prevalence study with a secondary information source, in the general population aged 13 to 65 years, selected at random. The interview was conducted using the Compositum International Diagnosis Interview which generates psychiatric diagnoses according to the DSM-IV. The variables included were traumatic events grouped into five categories: related to armed conflict, sexual violence, interfamily violence, other types of violence, traumas and some mental disorders. The prevalence of mental disorders was compared in the five categories of traumatic events. Statistical significance was defined as a p value of0.05.Sexual and interfamily violence were more prevalent in women (p0.05). In those under age 13, major depression related to armed conflict had a prevalence of 48.3%, with a significant difference from the other trauma groups (p=0.015). All prevalences for childhood-onset disorders showed significantly different prevalences compared with the group for violence related to armed conflict (p0.05) and suicidal ideation was higher in the sexual violence group (p=0.006).High prevalences of mental disorders were found in people who had been exposed to traumatic events and violence. In those who experienced traumatic events related to armed conflict and sexual violence, higher prevalences of certain mental disorders were detected.

Smoking can play a key role in SARS-CoV-2 infection and in the course of the disease. Previous studies have conflicting or inconclusive results on the prevalence of smoking and the severity of the coronavirus disease (COVID-19).Observational, multicenter, retrospective cohort study of 14,260 patients admitted for COVID-19 in Spanish hospitals between February and September 2020. Their clinical characteristics were recorded and the patients were classified into a smoking group (active or former smokers) or a non-smoking group (never smokers). The patients were followed up to one month after discharge. Differences between groups were analysed. A multivariate logistic regression and Kapplan Meier curves analysed the relationship between smoking and in-hospital mortality.The median age was 68.6 (55.8-79.1) years, with 57.7% of males. Smoking patients were older (69.9 (59.6-78.0 years)), more frequently male (80.3%) and with higher Charlson index (4 (2-6)) than non-smoking patients. Smoking patients presented a worse evolution, with a higher rate of admission to the intensive care unit (ICU) (10.4 vs. 8.1%), higher in-hospital mortality (22.5 vs. 16.4%) and readmission at one month (5.8 vs. 4.0%) than in non-smoking patients. After multivariate analysis, smoking remained associated with these events.Active or past smoking is an independent predictor of poor prognosis in patients with COVID-19. It is associated with higher ICU admissions and in-hospital mortality.El tabaquismo puede tener un papel importante en la infección por SARS-CoV-2 y en el curso de la enfermedad. Los estudios previos muestran resultados contradictorios o no concluyentes sobre la prevalencia de fumar y la severidad en la enfermedad por coronavirus (COVID-19).Estudio de cohortes observacional, multicéntrico y retrospectivo de 14.260 pacientes que ingresaron por COVID-19 en hospitales españoles desde febrero a septiembre de 2020. Se registraron sus características clínicas y se clasificaron en el grupo con tabaquismo si tabaquismo activo o previo o en el grupo sin tabaquismo si nunca habían fumado. Se realizó un seguimiento hasta un mes después del alta. Se analizaron las diferencias entre grupos. La relación entre tabaquismo y mortalidad intrahospitalaria se valoró mediante una regresión logística multivariante y curvas de Kapplan Meier.La mediana de edad fue 68,6 (55,8–79,1) años, con un 57,7% de varones. El grupo con tabaquismo presentó mayor edad (69,9 (59,6–78,0 años)), predominio masculino (80,3%) y mayor índice de Charlson (4 (2−6)). La evolución fue peor en estos pacientes, con una mayor tasa de ingreso en UCI (10,4 vs 8,1%), mayor mortalidad intrahospitalaria (22,5 vs 16,4%) y reingreso al mes (5,8 vs 4,0%) que el grupo sin tabaquismo. Tras el análisis multivariante, el tabaquismo permanecía asociado a estos eventos.El tabaquismo de forma activa o pasada es un factor predictor independiente de mal pronóstico en los pacientes con COVID-19, estando asociada a mayor probabilidad de ingreso en UCI y a mayor mortalidad intrahospitalaria.

The most representative indicator of vitamin D status in clinical practice is 25(OH)D3, but new biomarkers could improve the assessment of vitamin D status and metabolism. The objective of this study is to investigate the association of serum vitamin D metabolites and vitamin D metabolite ratios (VMRs) with potentially influential factors in premenopausal women. This is a cross-sectional study based on 1422 women, aged 39-50, recruited from a Madrid Medical Diagnostic Center. Participants answered an epidemiological and a food frequency questionnaire. Serum vitamin D metabolites were determined using an SPE-LC-MS/MS platform. The association between participant's characteristics, vitamin D metabolites, and VMRs was quantified by multiple linear regression models. Mean 25(OH)D3 concentration was 49.2 + 18.9 nmol/L, with greater deficits among obese, nulliparous, dark-skinned women, and with less sun exposure. A lower R2 ratio (1,25(OH)2D3/25(OH)D3) and a higher R4 (24,25(OH)2D3/1,25(OH)2D3) were observed in nulliparous women, with high sun exposure, and those with low caloric intake or high consumption of calcium, vitamin D supplements, or alcohol. Nulliparous women had lower R1 (25(OH)D3/Vit D3) and R3 (24,25(OH)2D3/25(OH)D3), and older women showed lower R3 and R4. Vitamin D status modified the association of the VMRs with seasons. VMRs can be complementary indicators of vitamin D status and its endogenous metabolism, and reveal the influence of certain individual characteristics on the expression of hydroxylase enzymes. This study was funded by the Spanish Ministry of Health (EC11–273) and by the Carlos III Institute of Health (PI15CIII/0029). The article presents independent research. The views expressed are those of the authors and not necessarily those of the Carlos III Institute of Health. Sí

Background Atrial fibrillation (AF) may exist before or occur early in the course of pulmonary embolism (PE). We determined the PE outcomes based on the presence and timing of AF. Methods and Results Using the data from a multicenter PE registry, we identified 3 groups: (1) those with preexisting AF, (2) patients with new AF within 2 days from acute PE (incident AF), and (3) patients without AF. We assessed the 90‐day and 1‐year risk of mortality and stroke in patients with AF, compared with those without AF (reference group). Among 16 497 patients with PE, 792 had preexisting AF. These patients had increased odds of 90‐day all‐cause (odds ratio [OR], 2.81; 95% CI, 2.33–3.38) and PE‐related mortality (OR, 2.38; 95% CI, 1.37–4.14) and increased 1‐year hazard for ischemic stroke (hazard ratio, 5.48; 95% CI, 3.10–9.69) compared with those without AF. After multivariable adjustment, preexisting AF was associated with significantly increased odds of all‐cause mortality (OR, 1.91; 95% CI, 1.57–2.32) but not PE‐related mortality (OR, 1.50; 95% CI, 0.85–2.66). Among 16 497 patients with PE, 445 developed new incident AF within 2 days of acute PE. Incident AF was associated with increased odds of 90‐day all‐cause (OR, 2.28; 95% CI, 1.75–2.97) and PE‐related (OR, 3.64; 95% CI, 2.01–6.59) mortality but not stroke. Findings were similar in multivariable analyses. Conclusions In patients with acute symptomatic PE, both preexisting AF and incident AF predict adverse clinical outcomes. The type of adverse outcomes may differ depending on the timing of AF onset.

Background: Carriers of the G2019S mutation of LRRK2 provide a great opportunity to investigate the premotor stages of Parkinson's disease (PD). We have studied by serial clinical and dopamine transporter single photon emission computed tomography (DaT-SPECT) evaluations a cohort of asymptomatic carriers of the LRRK2-G2019S mutation in order to evaluate the usefulness of these tools as biomarkers. Here we report the results of the extended follow-up of this cohort at 8 years. Methods: Seventeen participants, of the 25 available from the 4-year evaluation, completed the 8-year assessment. UPDRS-III, UPSIT test and DaT-SPECT imaging (123I-ioflupane) were performed. We used repeated-measures linear mixed effects models to examine the changes in DaT binding over time. Results: Three carriers had converted to PD at 4 years. One additional carrier converted at 8 years. PD-converters had lower striatal DaT binding at baseline than non-converters. There was a significant decline of DaT binding over time, with a mean annual rate of 3.5%, with somewhat inter-individual and intra-individual variability and comparable between PD-converters and non-converters. No carrier with DAT binding ratio above an undefined threshold between 0.5 and 0.8 developed PD symptoms. The age-adjusted UPSIT score did not change significantly over time. Conclusions: The rate of conversion to PD at 8 years in this cohort aged ~58 years at baseline was 16%. The observed decline of DaT binding over time and its association with the phenotype render DaT-SPECT a potentially useful tool for monitoring the premotor stage of the disease, although at the individual level its ability to predict phenoconversion is limited.

Resumen La exposición a situaciones de vulnerabilidad y violencia, como el desplazamiento forzado, generan en la población víctima efectos nocivos para su salud mental. El objetivo del presente estudio es describir el estado actual de la salud mental y algunos factores sociodemográficos y del entorno asociados, de 471 adolescentes y jóvenes entre 13 y 28 años, víctimas de desplazamiento forzado en tres ciudades colombianas. Se aplicó la entrevista Composite International Diagnostic Interview (CIDI), versión CAPI (Computer Assisted Personal Interview); un cuestionario ad hoc sobre aspectos del desplazamiento forzado y el consumo de sustancias psicoactivas; la escala de funcionamiento familiar APGAR y la escala MOS (Medical Outcomes Study) de apoyo social. Se encontró una prevalencia de cualquier trastorno mental en el último año del 24,4% y cualquier trastorno por uso de sustancias del 4,7%. Los trastornos más prevalentes fueron fobia específica (6,8%), trastorno por estrés postraumático (5,7%) y trastorno depresivo mayor (5,1%). La dependencia a la marihuana se presentó en 2,1% de los participantes y el abuso de alcohol en 1,9%. Un 14,6% de los adolescentes y jóvenes víctimas de desplazamiento forzado han pensado suicidarse alguna vez en la vida. Ser hombre, menor de edad, con buen funcionamiento familiar y apoyo social adecuado, fueron factores protectores para la presencia de trastornos mentales. Abstract Exposure to vulnerable and violent events, such as forced displacement, generate several adverse effects on the mental health of victim population. The objective of this study is to describe the current mental health condition and some associated sociodemographic and environmental factors in 471 adolescents and young people between 13 and 28 years of age, who have been victims of forced displacement in three Colombian cities. The Composite International Diagnostic Interview (CIDI) interview, CAPI (Computer Assisted Personal Interview) version was administered; an ad hoc questionnaire on aspects of forced displacement and the consumption of psychoactive substances; the APGAR family function scale and the MOS (Medical Outcomes Study) scale of social support. It was found a prevalence of any mental disorder in the last years of 24.4% and any substance use disorder of 4.7%. The most prevalent disorders were specific phobia (6.8%), post-traumatic stress disorder (5.7%) and major depressive disorder (5.1%). Dependence on marijuana was found at 2.1% and alcohol abuse at 1.9%. 14.6% of adolescents and young victims of forced displacement have considered committing suicide at some point along their lives. Being a minor- age man, with a functional family and adequate social support, were protective factors from mental disorders.

In Europe, gastric adenocarcinoma (GADC) is commonly regarded as a disease of the elderly. This study aims to assess the proportion, characteristics, and survival of patients diagnosed with GADC under the age of 60.This is a retrospective, multicentric, and analytical study conducted at four tertiary Spanish hospitals. All patients diagnosed with GADC between 2008 and 2015 were included. Demographic, clinical, endoscopic, histologic, and survival data were retrieved. A multivariate analysis was performed to compare GADC in young (age≤60 years) and elderly patients.A total of 1374 patients with GADC were included. The mean age was 74 years (SD:11.1); 62.2% were males. There were 177 patients under the age of 60 (12.9%, 95% CI: 11.2-14.8%). GADC was frequently encountered as a metastatic disease in both young and elderly patients (Stage IV: 45.7% and 41%, respectively). In the multivariate analysis, alcohol abuse, ASA functional status I-II, diffuse subtype, neoadjuvant, and palliative therapy were independently associated (P0.05) with age ≤60 years. No differences were found in 2-year survival (GADC ≤60: 39% vs. 35%, P=0.45). Curative-intent surgery, TNM stage I-II, body mass index30kg/mOne out of eight cases of GADC were diagnosed under the age of 60. Metastatic disease was frequent at diagnosis and overall survival was poor regardless of age. Factors associated with localized disease correlated with improved survival in younger patients. Our results underline the need for early diagnosis strategies in our country.

Missed gastric cancer (MGC) is poorly documented in Mediterranean populations.(1) To assess the rate, predictors and survival of MGC. (2) To compare MGC and non-MGC tumors.This is a retrospective-cohort study conducted at four centers. MGC was defined as cancer detected within three years after negative esophagogastroduodenoscopy. Gastric adenocarcinomas diagnosed between 2008-2015 were included. Patients with no follow-up were excluded.During the study period 123,395 esophagogastroduodenoscopies were performed, with 1374 gastric cancers being diagnosed (1.1%). A total of 1289 gastric cancers were finally included. The overall rate of MGC was 4.7% (61/1289, 3.7-6%). A negative esophagogastroduodenoscopy in MGC patients was independently associated with PPI therapy (p 0.001), previous Billroth II anastomosis (p = 0.002), and lack of alarm symptoms (p 0.001). The most frequent location for MGC was the gastric body(52.4%). MGCs were smaller than non-MGCs (31 vs 41 mm, p = 0.047), more often flat or depressed (p = 0.003) and less likely to be encountered as advanced disease. Overall 2-year survival was similar between MGC (34.1%) and Non-MGC (35.3 %) (p = 0.59).MGC accounted for nearly five percent of newly-diagnosed gastric adenocarcinomas. Overall survival was poor and not different between MGC and non-MGC.

The role of vitamin D in mammographic density is still unclear. This study examines the association between serum 25-hydroxyvitamin D (25(OH)D) and mammographic density, overall and by specific women characteristics. DDM-Madrid is a cross-sectional study that recruited 1403 premenopausal women in a breast radiodiagnosis unit of Madrid City Council. Information was collected with a questionnaire and plasma 25(OH)D was measured by solid-phase extraction on-line coupled to liquid chromatography–tandem mass spectrometry. Percent mammographic density was assessed using a semi-automated computer tool (DM-Scan). Multivariable linear regression models were used to quantify the associations, categorizing 25(OH)D levels (nmol/L) into 3 groups according to the cut-offs established by the US Endocrine Society. Models were adjusted for age, education, body mass index, age at menarche, parity, previous breast biopsies, family history of breast cancer, physical activity, energy intake, use of corticoids, hypercholesterolemia and day of sample extraction. Mean serum 25(OH)D level was 49.4 + 18.9 nmol/L. Women with sufficient concentrations of 25(OH)D showed a slight decrease in mammographic density (β >75nmol/L=-3.40; p = 0.037). No differences were observed according to women characteristics except for parity, where the protective effect of 25(OH)D was only seen among nulliparous (β >75nmol/L=-13.00; p-heterogeneity = 0.006). In light of the protective effect of vitamin D on mammographic density and the high prevalence of vitamin D insufficiency in our population, improving these levels could be an effective measure for the prevention of health problems related to the lack of this essential vitamin.

espanolIntroduccion El trasplante autologo de precursores hematopoyeticos (TPHA) es una modalidad de tratamiento aceptada para la enfermedad de Crohn (EC) refractaria. Material y metodos Se recogen los pacientes con EC refractaria sometidos a TPHA en el hospital Universitario Ramon y Cajal de Madrid y se describen de forma retrospectiva los resultados obtenidos. Resultados Un total de 7 pacientes han recibido TPHA debido a EC refractaria en nuestro centro. Tres pacientes (43%) presentaron remision clinica y endoscopica; un paciente (14%) mejoria clinica sin remision y 3 pacientes (43%) permanecian activos con necesidad de reinicio del tratamiento en la valoracion de la respuesta inicial al TPHA (a 6 meses). Los sintomas recurrieron en 5 de los 7 pacientes (71%), y todos ellos requirieron reinicio de tratamiento medico a una media de 13,8 meses (rango: 3-30 meses). Solo un paciente requirio cirugia tras el TPHA. Al final del seguimiento a una media de 48 meses (rango: 17-78 meses) 5/7 (71%) de los pacientes estaban en remision clinica con o sin tratamiento. Conclusion El TPHA puede ser una opcion terapeutica prometedora para pacientes con EC refractaria. Su utilidad radica en que puede producir la remision clinica sin tratamiento en algunos pacientes, pero tambien en que puede hacer la enfermedad tratable, consiguiendo respuesta a determinados tratamientos en pacientes que la habian perdido previamente. EnglishAbstract Introduction Autologous haematopoietic stem cell transplantation (AHSCT) is an accepted treatment in refractory Crohn's disease (CD). Material and methods Data on patients with refractory CD subjected to AHSCT are collected at the Hospital Universitario Ramon y Cajal in Madrid and the results obtained are described retrospectively. Results Seven patients in total have received AHSCT due to refractory CD in our centre. Three patients (43%) presented with clinical and endoscopic remission; one patient (14%) clinical improvement without remission and three patients (43%) remained active with the need to restart treatment in the assessment of the initial response to the AHSCT (after six months). Symptoms recurred in five of the seven patients (71%) and all of them had to restart medical treatment after an average of 13.8 months (range: 3–30 months). Only one patient needed surgery after the AHSCT. At the end of the follow-up, after a mean of 48 months (range: 17–78 months), 5/7 (71%) of the patients were in clinical remission with or without treatment. Conclusion AHSCT may be a promising therapeutic option for patients with refractory CD. Its usefulness lies in the fact that it can produce clinical remission without treatment in some patients, but also that it can make the disease treatable, obtaining a response to certain treatments in patients who had previously lost it.

Introduction Autologous haematopoietic stem cell transplantation (AHSCT) is an accepted treatment in refractory Crohn's disease (CD). Material and methods Data on patients with refractory CD subjected to AHSCT are collected at the Hospital Universitario Ramon y Cajal in Madrid and the results obtained are described retrospectively. Results Seven patients in total have received AHSCT due to refractory CD in our centre. Three patients (43%) presented with clinical and endoscopic remission; one patient (14%) clinical improvement without remission and three patients (43%) remained active with the need to restart treatment in the assessment of the initial response to the AHSCT (after six months). Symptoms recurred in five of the seven patients (71%) and all of them had to restart medical treatment after an average of 13.8 months (range: 3–30 months). Only one patient needed surgery after the AHSCT. At the end of the follow-up, after a mean of 48 months (range: 17–78 months), 5/7 (71%) of the patients were in clinical remission with or without treatment. Conclusion AHSCT may be a promising therapeutic option for patients with refractory CD. Its usefulness lies in the fact that it can produce clinical remission without treatment in some patients, but also that it can make the disease treatable, obtaining a response to certain treatments in patients who had previously lost it.

[EN] Introduction: Mammographic density (MD), the proportion of radiologically dense breast tissue, is a strong risk factor for breast cancer. Our objective is to investigate the influence of occupations and occupational exposure to physical, chemical, and microbiological agents on MD in Spanish premenopausal women. Methods: This is a cross-sectional study based on 1362 premenopausal workers, aged 39-50, who attended a gynecological screening in a breast radiodiagnosis unit of Madrid City Council. The work history was compiled through a personal interview. Exposure to occupational agents was evaluated using the Spanish job-exposure matrix MatEmESp. MD percentage was assessed using the validated semi-automated computer tool DM-Scan. The association between occupation, occupational exposures, and MD was quantified using multiple linear regression models, adjusted for age, educational level, body mass index, parity, previous breast biopsies, family history of breast cancer, energy intake, use of oral contraceptives, smoking, and alcohol consumption. Results: Although no occupation was statistically significantly associated with MD, a borderline significant inverse association was mainly observed in orchard, greenhouse, nursery, and garden workers (beta = -6.60; 95% confidence interval (95%CI) = -14.27; 1.07) and information and communication technology technicians (beta = -7.27; 95%CI = -15.37; 0.84). On the contrary, a positive association was found among technicians in art galleries, museums, and libraries (beta = 8.47; 95%CI = -0.65; 17.60). Women occupationally exposed to fungicides, herbicides, and insecticides tended to have lower MD. The percentage of density decreased by almost 2% for every 5 years spent in occupations exposed to the mentioned agents. Conclusions: Although our findings point to a lack of association with the occupations and exposures analyzed, this study supports a deeper exploration of the role of certain occupational agents in MD, such as pesticides., This work was supported by the Carlos III Institute of Health (AESI PI15CIII/00029 and AESI PI15CIII/00013). The article presents independent research. The views expressed are those of the authors and not necessarily those of the Carlos III Institute of Health.

Introduction: Single nucleotide polymorphisms (SNPs) in the BDNF, COMT, CBR1 and CCK genes have been associated with the process of fear extinction in humans. Since fear extinction plays a key role in recovering from psychological trauma, there is a possibility that these genes modulate the risk of developing post-traumatic stress disorder (PTSD). Objective: To assess unilocus and multilocus associations between SNPs in the BDNF, COMT, CBR1 and CCK genes and the risk of developing PTSD. Materials and methods: 129 inhabitants of the municipality of Itagüí, Colombia, who had experienced psychological trauma at least once, were genotyped for these polymorphisms (38 cases of PTSD and 91 controls). Logistic regression was used to perform unilocus and multilocus association tests for single SNPs and existing SNP-SNP genotypic combinations. Results: No unilocus associations were found, but interactions between the BDNF and CBR1 genes and between the COMT and CCK genes were observed. Of these interactions, the genotypic combinations that behaved as risk factors were AG-AA (OR=13.52, p

Objective: To identify the causes of breastfeeding abandonment and the success factors associated with relactation in mothers with children attended in a specialised health institution. Methodology: Descriptive transversal design through non-probabilistic convenience sampling, with 100 mothers and their children. A structured survey was used and central tendency measurements and frequencies were analysed. The study was approved by the Ethics committee of the School of Health Sciences at the University Pontificia Bolivariana. Results: The average age was 26.8 years; 73 % had a low socioeconomic level; 59 % were cohabitating; 46 % were housewives; 32 % had a high school degree; 57 % were first-time mothers; 74 % had a high obstetric risk; and 59 % had children by caesarean section. Causes of breastfeeding abandonment were newborn hospitalization (79 %) and low birth weight (52 %). Health professionals suggested substitutes for hypogalactia in 18 % of the mothers. Incorrect maternal posture: 66.1 and 61 % with no previous experience. Relactation success factors were: chronological age under one month (48 %); effective newborn breast sucking (89 %); good newborn breast grasping (71 %). During the non-breastfeeding period, 72 % received mixed milk, 82 % did not breastfeed between 8 and 30 days, 98 % of the mothers were willing to relactate, 91 % considered the support of their families and health professionals as good. Conclusion: Children hospitalization was the main cause of breastfeeding abandonment and the main success factors for relactation were effective breast sucking, mothers’ readiness and support. RESUMEN Objetivo: identificar las causas de abandono de la lactancia materna y los factores de éxito para la relactación en madres con hijos atendidos en una institución de salud. Metodología: descriptivo, transversal. Muestreo no probabilístico a conveniencia, con una muestra de cien madres y sus hijos. Se utilizó una encuesta estructurada y se analizaron las medidas de tendencia central y las frecuencias. El estudio fue aprobado por el comité de ética de la Escuela de Ciencias de la Salud de la Universidad Pontificia Bolivariana. Resultados: las participantes tenían una media de edad de 26,8 años; el 73 % era de estrato socioeconómico bajo; el 59 % se encontraba en unión libre; el 46 % eran amas de casa; el 32 % contaba con bachillerato completo; el 57 % eran primigestantes; el 74 % tenía un alto riesgo obstétrico; y el 59 % tuvieron a su hijo por cesárea. Causas de abandono de la lactancia: hospitalización de los neonatos (79 %) y bajo peso al nacer (52 %). El personal de salud sugirió sucedáneos por hipogalactia en el 18 % de las madres. Postura incorrecta de la madre: 66,1 y 61 %, sin experiencias previas. Factores de éxito para relactar: edad cronológica menor de un mes (48 %); el bebé succionó al ponerlo al pecho (89 %); buen agarre (71 %). Durante el periodo de no lactancia, el 72 % recibió leche mixta, el 82 % no lactó entre 8 y 30 días, el 98 % de las madres estuvieron dispuestas a relactar, el 91 % consideró bueno el apoyo de sus familias y del personal de salud. Conclusión: la hospitalización del hijo fue la principal causa de abandono de la lactancia, y los principales factores de éxito para la relactación fueron la succión efectiva, la disposición de las madres y el apoyo. RESUMO Objetivo: identificar as causas de abandono do aleitamento materno e os fatores de sucesso para a relactação em mães de filhos atendidos em uma unidade de saúde. Metodologia: descritiva e transversal. Amostragem não probabilística por conveniência, com 100 mães e seus filhos. Um questionário estruturado foi utilizado e as medidas de tendência central e as frequências foram analisadas. O estudo foi aprovado pelo comitê de ética da Escola de Ciências da Saúde da Universidad Pontificia Bolivariana, Colômbia. Resultados: as participantes tinham em média 26,8 anos de idade; 73 % eram de classe social baixa; 59 % estavam em união estável; 46 % eram donas de casa; 32 % contavam com ensino médio completo; 57 % eram primigestas; 74 % tinham alto risco obstétrico, e 59 % tiveram seu filho por cesariana. Causas de abandono do aleitamento: hospitalização dos recém-nascidos (79 %) e baixo peso ao nascer (52 %). A equipe de saúde sugeriu a hipogalactia como causa da substituição do leite materno em 18 % das mães; postura incorreta da mãe em 66,1 % e 61 % devido à falta de experiência. Fatores de sucesso para relactar: idade cronológica menor de um mês (48 %); sucção do peito por parte bebê (89 %); pega correta (71 %). Durante o período de não aleitamento materno, 72 % receberam aleitamento misto; 82 % não lactaram entre 8 e 30 dias; 98 % das mães estiveram dispostas a relactar; 91 % consideraram o apoio de suas famílias e da equipe de saúde como bom. Conclusões: o internamento do filho foi a principal causa do abandono do aleitamento materno, e os principais fatores de relactação foram a sucção efetiva, a disposição das mães e o apoio.

Backgound: Traditional anthropometrics such as body mass index (BMI) or waist circumference (WC) do not fully capture the complex biology of body fat (BF) in the elderly. The Clinica Universidad de Navarra-Body Adiposity Estimator (CUN-BAE) index, based on BMI, is proposed as a better indicator of BF. However, its relation with BMI is not clear. The aim was to compare the agreement between CUN-BAE, BMI, and WC in those aged &ge, 50 years. Methods: A cross-sectional sample of 3153 Caucasian healthy adults was taken from the MCC-Spain study. The Pearson&rsquo, s correlation and its 95% confidence interval (CI), adiposity distribution, and Kappa Index (95%CI) were calculated. Results: The correlation of CUN-BAE with WC is 0.18 (95%CI 0.14&ndash, 0.21) and that with BMI is moderate (r 0.58, 95%CI 0.55&ndash, 0.60), but both increased strongly by sex. Agreement (normal weight/overweight/obesity) of CUN-BAE with BMI is 7% and with WC is 18%. Conclusions: The correlation and the degree of agreement of CUN-BAE with BMI and WC are low in individuals aged over 50, but it is higher by sex. Thus, this different criterion of obesity may have clinical applications. More studies with a gold standard are needed to evaluate the CUN-BAE in elderly adults.

BACKGROUND Multimodal MRI approach is based on a combination of MRI parameters sensitive to different tissue characteristics (eg, volume atrophy, iron deposition, and microstructural damage). The main objective of the present study was to use a multimodal MRI approach to identify brain differences that could discriminate between matched groups of patients with multiple system atrophy, Parkinson's disease, and healthy controls. We assessed the 2 different MSA variants, namely, MSA-P, with predominant parkinsonism, and MSA-C, with more prominent cerebellar symptoms. METHODS Twenty-six PD patients, 29 MSA patients (16 MSA-P, 13 MSA-C), and 26 controls underwent 3-T MRI comprising T2*-weighted, T1-weighted, and diffusion tensor imaging scans. Using whole-brain voxel-based MRI, we combined gray-matter density, T2* relaxation rates, and diffusion tensor imaging scalars to compare and discriminate PD, MSA-P, MSA-C, and healthy controls. RESULTS Our main results showed that this approach reveals multiparametric modifications within the cerebellum and putamen in both MSA-C and MSA-P patients, compared with PD patients. Furthermore, our findings revealed that specific single multimodal MRI markers were sufficient to discriminate MSA-P and MSA-C patients from PD patients. Moreover, the unsupervised analysis based on multimodal MRI data could regroup individuals according to their clinical diagnosis, in most cases. CONCLUSIONS This study demonstrates that multimodal MRI is able to discriminate patients with PD from those with MSA with high accuracy. The combination of different MR biomarkers could be a great tool in early stage of disease to help diagnosis. © 2018 International Parkinson and Movement Disorder Society.

Objectives A recent study showed that Arab-Berbers GG homozygous at rs2421947(C/G) in the dynamin 3 gene (DNM3) had 12.5 years earlier age at onset of leucine-rich repeat kinase 2 (LRRK2)-associated Parkinson's disease (PD) (L2PD). We explored whether this variant modulates the L2PD age at onset in Spain. Methods We genotyped rs2421947 in 329 participants (210 L2PD patients, 119 L2PD nonmanifesting p.G2019S carriers), and marker rs356219 (A/G) in the α-synuclein gene (SNCA). Results By Kaplan Meier and Cox regression analyses, we did not find an association of the DNM3 polymorphism with L2PD age at onset. However, we found an association of the SNCA marker with up to an 11 years difference in the L2PD median age at onset (58 years for GG carriers vs 69 years for AA). Conclusion Our results indicate that SNCA rs356219 but not dynamin 3 DNM3 rs2421947 modifies the penetrance of the mutation G2019S in the Spanish population by influencing the L2PD age at onset. These findings suggest that different genetic modifiers may influence the L2PD age at onset in different populations. © 2018 International Parkinson and Movement Disorder Society.

Introduction. Among patients with mental illness, dual disorders patients are characterized by a heterogeneous and more severe clinical presentation that is difficult to treat. Therefore, knowledge about the distribution of this disorder and the characteristics of these patients can be helpful to optimize and organize health resources. Objective. To explore the prevalence and socio-demographic and clinical factors associated with dual disorders patients who were hospitalized due to mental illness at a psychiatric unit in Colombia between January and June 2013; this data was collected and analyzed on the basis of the medical records of each patient. Method. Observational, quantitative, cross-sectional study of a secondary source. It included the analysis of 201 patients aged 18 to 65. Results. There were 201 patients analyzed; 45.3% had dual disorders, with a ratio of 2.24 men:women; there was a high frequency of single marital status (69.2%) and more than 90% had a low socioeconomic level. The factors significantly associated with dual disorders in order of importance were: age from 18 to 35 years (OR = 11.03; CI 95% [4.43, 27.46]), male (OR = 5.10, CI 95% [2.26, 11.50]), history of aggression (OR = 3.35; CI 95% [1.63, 6.91]), and readmission in the year after hospital discharge (OR = 2.23; CI 95% [1.08, 4.61]). Discussion and conclusion. Dual disorders prevalence in this study is similar to that found by other authors. The high prevalence of dual disorders requires specialized therapeutic programs for treatment. The more hospitals know about the associated variables in this study, the more they will be able to improve their approach to patients.

Objective:To assess the value of baseline clinical and imaging biomarkers in a cohort of asymptomatic LRRK2 G2019S carriers for predicting conversion to Parkinson disease (PD) at 4 years.Methods:Thirty-two asymptomatic carriers of LRRK2 G2019S mutation underwent baseline and 4-year evaluation including clinical examination (Unified Parkinson's Disease Rating Scale, part III, olfaction University of Pennsylvania Smell Identification Test [UPSIT]) and dopamine transporter (DaT) SPECT (123I-ioflupane). Visual and semiquantitative analysis of images was performed. The specific striatal binding ratio was calculated (striatal region of interest [ROI] − occipital ROI/occipital ROI).Results:Three carriers, asymptomatic at baseline, had converted to PD at 4-year evaluation. Twenty-three participants were fully evaluated. PD converters had lower striatal DaT binding at baseline than nonconverters (p = 0.002). A baseline scan with a ratio of bilateral striatal uptake below 1 predicted conversion to PD within the 4-year period with high sensitivity and specificity (area under the curve 1; p = 0.006). The slope of DaT binding decline between the 2 scans was similar in PD converters and nonconverters. Age-adjusted UPSIT score at baseline and at 4 years was similar in both groups.Conclusions:Semiquantitative DaT-SPECT could be used to predict early conversion to PD in asymptomatic carriers of the LRRK2 G2019S mutation. Rate of conversion to PD at 4 years in this cohort aged ∼64 years was 12%. The slope of DaT binding decline on DaT-SPECT imaging seems to be similar across different stages of the premotor period.

Background and Aim The need for endoscopic investigation in patients with iron deficiency without anemia (ID) is not established. Methods Data from patients with ID (serum ferritin ≤20 ng/mL, normal hemoglobin) studied with upper and lower endoscopy were retrospectively analyzed. Patients evaluated for iron deficiency anemia (IDA) served as controls, matched by sex and age in a proportion 2:1. Presence, type, location and age distribution of endoscopic findings were compared. Results 109 patients (55% females; mean age 59.6 ± 13.5 years; age distribution

Biomarkers will have an important role in the diagnosis, prognosis and response to treatment in bronchiectasis during the transition towards precision medicinehttp://bit.ly/30swlUK

The aim of this study is to analyse the percentage of hypovitaminosis D, as well as its relationship with the various parameters of calcium-phosphate metabolism. A case control study was conducted on 366 patients, divided into two groups: Group 1: 127 non-stone-forming patients, and Group 2: 239 calcium stone forming. A study was performed on calcium-phosphate metabolism and urinary lithogenic factors. The percentage of vitamin D deficiency (25-OH-vitamin D levels

Idarucizumab is a monoclonal antibody that rapidly reverses the anticoagulant effect of dabigatran. The experience with this drug in the setting of gastrointestinal bleeding is scarce. We present the case of an 84-year-old male with known history of non-valvular atrial fibrillation anticoagulated with dabigatran who presented to the emergency room with melena. During his stay in the emergency department he suddenly worsened with hemodynamic derangement and massive melena so idarucizumab was administered. Gastroscopy and colonoscopy were performed without identifying a bleeding source. After the administration of idarucizumab, the patient did not presented signs of ongoing bleeding. Anticoagulation was resumed on the sixth day and no rebleeding or thromboembolic events have been recorded after six months of follow-up. This case and the limited information available in the literature suggest that idarucizumab can be useful and safe in cases of severe gastrointestinal bleeding with recent intake of dabigatran.

Cisplatin, one of the most extensively used metallodrugs in cancer treatment, presents the important drawback of patient resistance. This resistance is the consequence of different processes including those preventing the formation of DNA adducts and/or their quick removal. Thus, a tool for the accurate detection and quantitation of cisplatin-induced adducts might be valuable for predicting patient resistance. To prove the validity of such an assumption, highly sensitive plasma mass spectrometry (ICP-MS) strategies were applied to determine DNA adduct levels and intracellular Pt concentrations. These two metal-relative parameters were combined with an evaluation of biological responses in terms of genomic stability (with the Comet assay) and cell cycle progression (by flow cytometry) in four human cell lines of different origins and cisplatin sensitivities (A549, GM04312, A2780 and A2780cis), treated with low cisplatin doses (5, 10 and 20 μM for 3 hours). Cell viability and apoptosis were determined as resistance indicators. Univariate linear regression analyses indicated that quantitation of cisplatin-induced G-G intra-strand adducts, measured 1 h after treatment, was the best predictor for viability and apoptosis in all of the cell lines. Multivariate linear regression analyses revealed that the prediction improved when the intracellular Pt content or the Comet data were included in the analysis, for all sensitive cell lines and for the A2780 and A2780cis cell lines, respectively. Thus, a reliable cisplatin resistance predictive model, which combines the quantitation of adducts by HPLC-ICP-MS, and their repair, with the intracellular Pt content and induced genomic instability, might be essential to identify early therapy failure.

Resumen Introduccion El trastorno por deficit de atencion e hiperactividad es un problema del neurodesarrollo de alta prevalencia que se asocia con grave disfuncion personal, familiar y social. Objetivo Explorar la posible asociacion entre trastorno por deficit de atencion e hiperactividad y comportamiento suicida en una poblacion de adolescentes. Metodos Estudio observacional analitico de corte a partir de fuente secundaria. Se analizaron variables sociodemograficas, clinicas, de crianza y eventos vitales de 447 adolescentes a quienes se aplico la Compositum International Diagnosis Interview . Se realizo analisis descriptivo y bivariable a traves de odds ratio (OR) y sis intervalos de confianza del 95% (IC95%); las variables con significacion estadistica (p software SPSS ® version 21.0. Resultados El 59,1% eran mujeres, con una mediana [intervalo intercuartilico] de edad de 16 [14-18] anos. El comportamiento suicida se presento en el 31% de las mujeres y el 23% de los varones. Mostraban deficit de atencion el 6,3% de los adolescentes. El analisis de regresion logistica mostro que las variables que mejor explicaban el comportamiento suicida de los adolescentes fueron: el sexo femenino, el trastorno de estres postraumatico, el trastorno de panico y el consumo de cocaina con trastorno por estres postraumatico. Conclusiones El diagnostico y la intervencion temprana del deficit de atencion e hiperactividad en ninos puede ser una estrategia util en la prevencion del comportamiento suicida en la adolescencia.

Background: Mycophenolate (MF) is effective as induction and maintenance treatment in patients with lupus nephritis (LN). This study evaluates the efficacy and safety of MF in patients with refractory and relapsing LN. Methods: Data were retrospectively obtained for 85 patients (35 refractory and 50 relapsing) from 11 nephrology departments in Spain. The primary endpoints were the incidence and cumulative number of renal responses and relapses and their relationship with baseline clinical and analytical data. The secondary endpoint was the appearance of side effects. Results: The main clinical and analytical variables were similar both in refractory and relapsing LN. Most of the patients had received cyclophosphamide, and all of them switched to MF. 74 patients (87%) achieved a response (69% partial, 31% complete). Age at starting MF, gender, pathological classification, body mass index, blood pressure, baseline renal function, and proteinuria were not associated with achieving response. After stopping MF, 3 of 19 patients (15.7%) relapsed, all at 6 months of follow-up. No differences were found between clinical and analytical variables and number of relapses. Side effects were unremarkable, except for 1 patient, who died of thrombocytopenia and ovarian hemorrhage. Conclusions: Switching to MF from other immunosuppressive treatments is effective and safe in refractory and relapsing LN.

Background/Purpose: Psoriasis is a multisystem disease which has been related to vitamin-D deficiency through chronic inflammation. This psoriasis-related inflammatory state and vitamin-D deficiency may induce bone mineral density loss. The purpose of this study is to assess the relationship of psoriasis with bone mineral density, by comparing psoriatic patients with healthy controls and patients with osteopenia/osteoporosis. Methods: A total of 185 subjects were studied; 58 psoriatic patients who had not been under systemic or biological treatment were included. Age, gender, body mass index, phosphocalcic metabolic parameters and hip and lumbar (L4) bone mineral density data were collected. These variables were compared with those collected in 61 healthy controls and 67 patients with osteopenia/osteoporosis. Results: Psoriatic patients showed worse hip and lumbar spine bone mineral density levels than healthy controls (P = 0.001) and better levels than osteoporotic patients (P < 0.001). Multivariate analysis demonstrated a negative association of age and a positive association of body mass index in hip bone mineral density in psoriatic patients. Limitations: The main limitations are those of cross-sectional studies, such as a lack of follow up period, and a male predominance in the psoriatic group, which is corrected employing a multivariate analysis with an adjusted model for confounding factors. Conclusions: Bone mineral density levels in psoriatic patients are situated halfway between healthy controls and patients with osteopenia/osteoporosis. In addition, the higher body mass index in patients with psoriasis appears to confer a protective effect against further development of lower bone mineral density.

Background Low serum uric acid (UA) levels have been associated with increased Parkinson's disease (PD) risk and accelerated disease progression. We analyzed the effect of polymorphisms in 9 genes influencing serum UA concentration on the risk of PD. Methods We genotyped SLC2A9 rs734553, ABCG2 rs2231142, SLC17A1 rs1183201, SLC22A11 rs17300741, SLC22A12 rs505802, GCKR rs780094, PDZK1 rs12129861, LRRC16A+SCGN rs742132, and SLC16A9 rs12356193 in 1061 PD patients and 754 controls. For each subject we calculated a cumulative genetic risk score (GRS), defined as the total number of PD-risk alleles (range, 2–15) associated to lower serum UA levels. Serum UA levels were measured in a subgroup of 365 PD cases and 132 controls. Results Serum UA levels were significantly lower in men with PD than in controls. Subjects (both men and women) carrying more than 9 risk alleles (third GRS tertile) had a 1.5 higher risk of developing PD than subjects with less than 8 risk alleles (first GRS tertile). An inverse correlation was observed between higher GRS and lower serum UA concentration in both men and women. Conclusions Genetic variability influencing serum UA levels might modify susceptibility to PD. © 2013 International Parkinson and Movement Disorder Society

Objective: To ascertain in a cross-sectional study whether substantia nigra (SN) echogenicity, olfaction, and dopamine transporter (DaT)-SPECT are reliable premotor biomarkers in a cohort of asymptomatic carriers of the LRRK2 G2019S mutation (AsG2019S+). Methods: These biomarkers were evaluated in 49 AsG2019S+ patients, and we also studied olfaction and SN echogenicity in 29 patients with G2019S-associated Parkinson disease (PD-G2019S), 47 relatives who were noncarriers of the LRRK2 G2019S mutation (AsG2019S−), 50 patients with idiopathic Parkinson disease (iPD), and 50 community controls. Results: Eighty-five percent of unaffected mutation carriers (AsG2019S+) showed pathologic SN hyperechogenicity, with a similar proportion observed among both PD-G2019S and iPD cases, and 41% of AsG2019S− also showing increased SN echogenicity. The proportion of hyposmic individuals was not statistically different in patients with PD-G2019S (50%) and iPD (82%), but hyposmia was significantly less common in both AsG2019S+ (26%) and AsG2019S− (28%). In AsG2019S+ cases, reduced striatal uptake in DaT-SPECT was observed in 43.7%. Conclusions: Independently of age at examination, the most frequently altered premotor biomarker in LRRK2 G2019S-associated PD was SN hyperechogenicity, whereas abnormal DaT-SPECT predominated in older, unaffected mutation carriers.

Introduction At least 10% of patients with Obsessive-compulsive Disorder (OCD) are refractory to psychopharmacological treatment. The emergence of new technologies for the modulation of altered neuronal activity in Neurosurgery, deep brain stimulation (DBS), has enabled its use in severe and refractory OCD cases. The objective of this article is to review the current scientific evidence on the effectiveness and applicability of this technique to refractory OCD. Method We systematically reviewed the literature to identify the main characteristics of deep brain stimulation, its use and applicability as treatment for obsessive-compulsive disorder. Therefore, we reviewed PubMed/Medline, Embase and PsycINFO databases, combining the key-words ‘Deep brain stimulation’, ‘DBS’ and ‘Obsessive-compulsive disorder’ ‘OCS’. The articles were selected by two of the authors independently, based on the abstracts, and if they described any of the main characteristics of the therapy referring to OCD: applicability; mechanism of action; brain therapeutic targets; efficacy; side-effects; co-therapies. All the information was subsequently extracted and analysed. Results The critical analysis of the evidence shows that the use of DBS in treatment-resistant OCD is providing satisfactory results regarding efficacy, with assumable side-effects. However, there is insufficient evidence to support the use of any single brain target over another. Patient selection has to be done following analyses of risks/benefits, being advisable to individualise the decision of continuing with concomitant psychopharmacological and psychological treatments. Conclusions The use of DBS is still considered to be in the field of research, although it is increasingly used in refractory-OCD, producing in the majority of studies significant improvements in symptomatology, and in functionality and quality of life. It is essential to implement random and controlled studies regarding its long-term efficacy, cost-risk analyses and cost/benefit.

The aim of this study was to analyze the presence of lithogenic metabolic factors in the blood and urine of patients with osteopenia versus osteoporosis. This is a cross-sectional study including 67 patients who were divided into two groups according to the presence of either osteopenia or osteoporosis as measured by bone densitometry: group 1—40 patients with osteopenia (22 men and 18 women) and group 2—27 patients with osteoporosis (13 men and 14 women). Metabolic studies were performed on the blood and urine; statistical analysis was performed comparing means and conducting linear correlation and multivariate analyses with SPSS. Statistical significance was considered to be p ≤ 0.05. The mean age of patients in group 1 was 52.9 ± 12.8 years versus 50.3 ± 11.4 in group 2; the difference was not statistically significant. In group 2, higher levels of osteocalcin, β-crosslaps, urinary calcium, fasting urine calcium/creatinine, 24 h urine calcium/creatinine and 24 h oxaluria were observed compared to group 1. In the multivariate analysis, only the β-crosslaps and urinary calcium were independently associated with osteoporosis. It would be advisable to determine the urinary calcium levels in patients with osteoporosis since altered levels may necessitate modifying the diagnostic and therapeutic approach to osteoporosis.

To analyze the presence of phosphocalcic metabolism disorders in patients with osteopenia-osteoporosis without nephrolithiasis with respect to a control group.A cross-sectional study was conducted in patients with osteopenia-osteoporosis without nephrolithiasis (n = 67) in lumbar spine or femur and in a control group (n = 61) with no lithiasis or bone disorders. Blood bone markers, phosphocalcic metabolism, fasting urine, 24-h urine lithogenic risk factors, and densitometry were recorded in both groups. SPSS 20.0 was used for statistical analysis.In comparison with the controls, significantly higher blood calcium (9.27 ± 0.36 vs. 9.57 ± 0.38, p = 0.0001), intact parathormone (45.6 ± 14.9 vs. 53.8 ± 18.9, p = 0.008), and alkaline phosphatase (61.9 ± 20.9 vs. 70.74 ± 18.9, p = 0.014) levels were found in patients with osteopenia-osteoporosis. In the 24-h urine test, citrate (1010.7 ± 647.8 vs. 617.6 ± 315.8, p = 0.0001) and oxalate (28.21 ± 17.65 vs. 22.11 ± 16.49, p = 0.045) levels were significantly lower in osteopenia-osteoporosis patients than in controls, with no significant difference in calcium (187.3 ± 106.9 vs. 207.06 ± 98.12, p = 0.27) or uric acid (540.7 ± 186.2 vs. 511.9 ± 167.06, p = 0.35) levels. Patients with osteopenia-osteoporosis had significantly higher levels of lithogenic risk factors associated with bone remodeling, including significantly increased β-crosslaps and osteocalcin values and higher β-crosslaps/osteocalcin ratios.Patients with osteopenia-osteoporosis without nephrolithiasis showed phosphocalcic metabolism disorders as well as lower urinary citrate and higher β-crosslaps/osteocalcin and fasting calcium/creatinine ratios, which would increase the risk of nephrolithiasis. Hence, prospective studies are warranted to evaluate the long-term risks.

Patients with Parkinson's disease (PD) carrying the G2019S mutation of the LRRK2 gene provide an opportunity of studying in a homogeneous setting the molecular pathways involved in the pathogenesis of common idiopathic forms of PD. However, whether common mechanisms are involved in both conditions in not known. Here, we compared genome-wide gene expression (RNA sequencing) in peripheral blood between PD patients carrying the G2019S mutation of the LRRK2 gene and idiopathic PD cases, to deepen in the understanding of this topic. In addition, we compared the blood transcriptome between 2 cohorts of carriers of the G2019S mutation (symptomatic and asymptomatic) and 2 cohorts of noncarriers (symptomatic and asymptomatic) for detecting transcriptomic changes attributable to the presence of the G2019S mutation. We searched for gene enrichment in Reactome or Kyoto Encyclopedia of Genes and Genomes pathways. We found that despite some overlap, peripheral blood transcriptome differs widely between idiopathic and LRRK2 G2019S-associated PD, with only 4 deregulated pathways shared by both conditions (complement and coagulation cascades, cell adhesion molecules, hematopoietic cell lineage, and extracellular matrix organization). Changes in the blood transcriptome observed in asymptomatic carriers of the mutation included 6 genes known to be associated with PD in genome-wide association studies and also pathways related with immunity. Our findings emphasize the notion that PD is likely a pathogenically heterogeneous condition and suggest the existence of specific mechanisms involved in LRRK2-associated PD., This work was supported by the grant PI11/00228 from Instituto de Salud Carlos III.

The aim of this study is to assess the presence of substantia nigra (SN) hypoechogenicity in a cohort of Friedreich's ataxia (FRDA) patients and its possible association with restless syndrome (RLS). Fourteen genetically confirmed FRDA patients and 14 sex- and age-matched healthy controls underwent transcranial sonography examination to evaluate the area of echogenicity of the SN. Both groups were clinically assessed with the essential and additional diagnostic criteria for RLS established by the International RLS Study Group. Ataxia was evaluated using the Scale for the Assessment and Rating of Ataxia. We did not find significant differences between the mean sum area of SN echogenicity in FRDA patients and in controls. Only one patient in the FDRA group and two control subjects showed SN hypoechogenicity. Two out of the 14 FDRA patients and one of the controls fulfilled diagnostic criteria for RLS. The areas of SN echogenicity in the two FRDA patients with RLS were the lowest found in this group. We conclude that our data do not support the notion that SN hypoechogenicity is related to FRDA itself, although it might be associated with RLS.

Background Common variants in the LRRK2 gene influence risk of Parkinson’s disease (PD) in Asians, but whether the same is true in European-derived populations is less clear.

Calcium lithiasis is the most frequently diagnosed renal lithiasis and is associated with a high percentage of patients with metabolic disorders, such as hypercalciuria, hypocitraturia, and hyperoxaluria. The present study included 50 patients with recurrent calcium lithiasis. We conducted a random urine test during nocturnal fasting and a 24-h urine test, and examined calcium, oxalate, and citrate. A study of the linear correlation between the metabolites was performed, and the receiver operator characteristic (ROC) curves were analyzed in the random urine samples to determine the cutoff values for hypercalciuria (excretion greater than 200 mg), hyperoxaluria (excretion greater than 40 mg), and hypocitraturia (excretion less than 320 mg) in the 24-h urine. Linear relationships were observed between the calcium levels in the random and 24-h urine samples (R = 0.717, p = 0.0001), the oxalate levels in the random and 24-h urine samples (R = 0.838, p = 0.0001), and the citrate levels in the random and 24-h urine samples (R = 0.799, p = 0.0001). After obtaining the ROC curves, we observed that more than 10.15 mg/dl of random calcium and more than 16.45 mg/l of random oxalate were indicative of hypercalciuria and hyperoxaluria, respectively, in the 24-h urine. In addition, we found that the presence of less than 183 mg/l of random citrate was indicative of the presence of hypocitraturia in the 24-h urine. Using the proposed values, screening for hypercalciuria, hyperoxaluria, and hypocitraturia can be performed with a random urine sample during fasting with an overall sensitivity greater than 86 %.

Androgenetic alopecia (AGA) and benign prostatic hyperplasia are both androgen-dependent entities that respond to the blocking of 5-alpha-reductase.The objective of this study was to determine whether prostatic volumes and urinary flow changes were higher in patients with early-onset AGA than in healthy control subjects.This was an observational case-control study of 87 men: 45 with early-onset AGA diagnosed in the dermatology department and 42 control subjects. End-point variables were prostatic volume, measured by transrectal ultrasound, and urinary flow, measured by urinary flowmetry. A hormone study was performed on all participants, and the International Prostate Symptom Score and International Index of Erectile Function score were determined.The groups did not significantly differ in mean age (cases, 52.7 years vs control subjects, 49.8 years; P = .12). Patients with AGA had significantly higher mean prostate volume (29.65 vs 20.24 mL, P.0001), International Prostate Symptom Score (4.93 vs 1.23, P.0001), and prostate-specific antigen value (1.53 vs 0.94 ng/mL, P.0001) and significantly lower maximum urinary flow (14.5 vs 22.45 mL/s, P.0001) versus control subjects. Binary logistic regression analysis showed a strong association between the presence of AGA and benign prostatic hyperplasia after adjusting for age, urinary volume, urination time, International Prostate Symptom Score, abdominal obesity, glucose levels, systolic blood pressure, insulin levels, fibrinogen, and C-reactive protein (odds ratio = 5.14, 95% confidence interval 1.23-47.36, P = .041).The study of larger sample sizes would facilitate stratified analyses according to the Ebling type of androgenetic alopecia.There is a relationship between the presence of AGA and prostate growth-associated urinary symptoms, likely attributable to their pathophysiological similarity. This study suggests that early-onset AGA may be an early marker of urinary/prostatic symptomatology. Future studies may clarify whether treatment of patients with AGA may benefit the concomitant benign prostatic hypertrophy, which would be present at an earlier stage in its natural evolution.

The frequency and penetrance of the LRRK2 G2019S mutation varies considerably in different Parkinson disease (PD) populations. This information is essential both for clinical purposes and genetic counseling. The objective of this study was to estimate the prevalence and penetrance of the G2019S mutation of the LRRK2 gene in a small region in northern Spain (Cantabria). The G2019S mutation was tested in 367 consecutive patients with PD attended as outpatients in a tertiary Hospital in Northern Spain, and 126 at-risk family members of probands were also investigated for G2019S mutation and disease status. The gene penetrance was estimated in terms of cumulative age-specific incidence of PD by the Kaplan-Meier method. Thirty-two PD patients (8.7%) carried the G2019S mutation. Penetrance estimation of the G2019S mutation was 2% at 50 years, 12% at 60 years, 26% at 70 years, and 47% at 80 years. The frequency of the G2019S mutation of the LRRK2 gene in PD patients from Cantabria is among the highest reported so far after North African Arabs and Ashkenazi Jews. At the age of 80 years only one-half of G2019S mutation carriers manifest motor symptoms of PD. © 2011 Movement Disorder Society

One of the most important consequences of oxidative stress is the induction of oxidation in DNA molecules. Permanent modification of genetic material resulting from “oxidative damage” incidents represents the first step involved in mutagenesis, carcinogenesis, and aging. Therefore, there is an urgent need for monitoring DNA oxidative damage in a quantitative way. For this purpose, the present work evaluates the use of gel electrophoresis (GE) on-line coupled to inductively coupled plasma-mass spectrometry (ICP-MS) to address induced oxidative events in plasmid DNA pBlueScript SK (2961 bp). Oxidative stress is induced in the samples by addition of Fe2+ and H2O2 through the Fenton reaction. After optimization of the set-up for large DNA fragments, the GE separation of the different oxidation products (as induced by the Fenton reaction) were followed by 31P+ monitoring with ICP-MS and compared with conventional slab gels. The main advantage with the proposed set-up is that the quantification of each resulting oxidation product could be performed using just an inorganic phosphate as internal standard.

Objective Low serum uric acid (UA) levels have been associated with a worse cognitive function later in life and also with a higher risk and faster progression of Parkinson's disease (PD). Here we studied whether serum UA levels and the genetic variants related to its variability are associated with the presence of dementia in a cohort of patients with PD. Methods The study included 343 PD patients, which were examined for the presence of dementia according to the MDS Task Force criteria (level 1). The predominant PD phenotype and UPDRS-III and Hoehn-Yahr scales were recorded. Serum UA levels were determined in each participant. Genotyping of SLC2A9 rs734553, ABCG2 rs2231142, SLC17A1 rs1183201, SLC22A11 rs17300741, SLC22A12 rs505802, GCKR rs780094, PDZK1 rs12129861, LRRC16A + SCGN rs742132, and SLC16A9 rs12356193 was carried out by Taqman analysis. For each subject we calculated a cumulative genetic risk score (GRS), defined as the total number of risk alleles (range 2–15) associated to lower serum UA levels. Results 72 out of 343 PD patients (21%) presented dementia. Serum UA levels were not different between PD patients with or without dementia. No significant association was detected between any single SNP and the risk of PD-dementia. When we analyzed the combined effect of the eight SNPs using the cumulative GRS no significant association between the number of risk alleles and the risk of PD was observed. Conclusions Our data suggest that serum UA levels have not a significant impact on the risk of dementia in PD.