Regulatory rare variants of the dopaminergic gene ANKK1 as potential risk factors for Parkinson's disease.

Parkinson's disease (PD) is characterized by cerebral dopamine depletion that causes motor and cognitive deficits. The dopamine-related gene ANKK1 has been associated with neuropsychiatric disorders with a dopaminergic deficiency in the striatum. This study aims to define the contribution of ANKK1 rare variants in PD. We found in 10 out of 535 PD patients 6 ANKK1 heterozygous rare alleles located at the 5'UTR, the first exon, intron 1, and the nearby enhancer located 2.6 kb upstream. All 6 ANKK1 single nucleotide variants were located in conserved regulatory regions and showed significant allele-dependent effects on gene regulation in vitro. ANKK1 variant carriers did not show other PD-causing Mendelian mutations. Nevertheless, four patients were heterozygous carriers of rare variants of ATP7B gene, which is related to catecholamines. We also found an association between the polymorphic rs7107223 of the ANKK1 enhancer and PD in two independent clinical series (P = 0.007 and 0.021). rs7107223 functional analysis showed significant allele-dependent effects on both gene regulation and dopaminergic response. In conclusion, we have identified in PD patients functional variants at the ANKK1 locus highlighting the possible relevance of rare variants and non-coding regulatory regions in both the genetics of PD and the dopaminergic vulnerability of this disease.

Polyimide/Ionic Liquid Composite Membranes for Middle and High Temperature Fuel Cell Application: Water Sorption Behavior and Proton Conductivity.

Four water insoluble room-temperature protic ionic liquids (PILs) based on the N-alkylimidazolium cation with the alkyl chain length from 1 to 4 and bis(trifluoromethylsulfonyl)imide anion were synthesized and their chemical structure was confirmed by the 1H NMR and 19F NMR analysis. PILs were revealed to be thermally stable up to 360 and 400 °C. At the same time, the proton conductivity of PILs was found to be dependent mostly on the temperature and, to a less extent, on the type of the cation, i.e., the increase of the conductivity from ~3 × 10-4 S/cm at 25 °C to 2 × 10-2 S/cm at 150 °C was observed. The water vapour sorption capacity of PILs was evaluated as a function of relative humidity and the influence of the alkyl chain length on the phase behaviour in the PIL-water system was discussed. The composite polyimide/PILs membranes were prepared by the PIL immobilization in the porous polymer (Matrimid® 5218) film. The composite membranes showed a high level of proton conductivity (~10-3 S/cm) at elevated temperatures (up to 160 °C). The obtained results reveal that the elaborated composite polyimide/PIL membranes are promising candidates for the application as proton exchange membrane at middle and high temperatures.

Prevalencia del síndrome de desgaste laboral en residentes del Hospital Roosevelt y Hospital General San Juan de Dios en el año 2015

Contexto: El Síndrome de Desgaste Laboral es un padecimiento que consiste en una respuesta prolongada de estrés en el organismo ante los factores estresantes emocionales e interpersonales que se presentan en el trabajo, que incluye: fatiga crónica, ineficacia y negación de lo ocurrido. Objetivo: Se realizó este estudio para establecer la existencia del Síndrome de Desgaste Profesional en los residentes del Hospital General San Juan de Dios y Hospital Roosevelt utilizando el cuestionario MBI. Diseño Experimental: Se condujo este estudio en los hospitales San Juan de Dios, y Roosevelt. En la población de 260 residentes de las especialidades: Gineco-obstetricia, Pediatría, Cirugía General y Medicina Interna que aceptaron voluntariamente formar parte del estudio. Métodos: Se utilizó el cuestionario de Desgaste Laboral de Maslash (MBI) el cual consiste en 22 preguntas agrupadas en 3 categorías: cansancio emocional, despersonalización, y realización personal. Resultados: El 42% de residentes de este estudio mostro un Síndrome de Desgaste Laboral, siendo 24% del Hospital General San Juan de Dios y 18% del Hospital Roosevelt. Conclusiones: Los residentes del Hospital General San Juan de Dios presentan más incidencia de Síndrome de Desgaste Laboral en comparación de los residentes del Hospital Roosevelt. La Pediatría es la especialidad que más SDL presento al momento del estudio

Context: the burnout syndrome is a condition that involves prolonged stress response in the body to the emotional and interpersonal stressors that occur at work, including chronic fatigue, inefficiency and denial of what happened. Objective: This study was conducted to establish the existence of professional burnout syndrome in residents of Hospital General San Juan de Dios and Hospital Roosevelt using the MBI questionnaire. Experimental Design: This study was conducted in the hospitals Roosevelt and San Juan de Dios. In 260 residents of the specialties: Gineco-obstetrics, Pediatrics, General Surgery and Internal Medicine who volunteered to be part of the study. Method: the questionnaire Maslash Work Wear (MBI) which consists of 22 questions grouped into 3 categories: emotional exhaustion, depersonalization, and personal accomplishment was used. Results: 42% of residents in this study showed burnout syndrome, being 24% of Hospital General San Juan de Dios and 18% of the Hospital Roosevelt. Conclusions: Residents of the Hospital General San Juan de Dios have more burnout syndrome than those in Hospital Roosevelt, at specialties level, Pediatrics is the one that presented most Burnout Syndrome at the time of the study

Correlated and cooperative motions in segmental relaxation: Influence of constitutive unit weight and intermolecular interactions.

This work clarifies the notion of correlated and cooperative motions appearing during the α-relaxation process through the role of the molecular weight of the constitutive units and of the interchain dipolar interactions. By studying amorphous copolymers of poly(ethylene-co-vinyl acetate) with different vinyl acetate contents, we show that the correlated motions are not sensitive to the interchain dipolar interactions, in contrast to the cooperative motions, which increase with a strengthening of the intermolecular interactions for this sample family. Concerning the influence of the molecular weight m_{0}, the notion of "correlated motions" seems to be equivalent to the notion of "cooperative motions" only for low m_{0} systems.

Cu-Ni nano-alloy: mixed, core-shell or Janus nano-particle?

Bimetallic nanoparticles like Cu-Ni are particularly attractive due to their magnetic and catalytic properties; however, their properties depend strongly on the structure of the alloy i.e. mixed, core-shell or Janus. To predict the alloy structure, this paper investigates the size and shape effects as well as the surface segregation effect on the Cu-Ni phase diagram. Phase maps have been plotted to determine the mixing/demixing behavior of this alloy according the particle shape. Cu-Ni nanoalloy can form a mixed particle or a Janus one depending on the synthesis temperature. Surface segregation is also considered and reveals a nickel surface-enrichment. Finally, this paper provides a useful roadmap for experimentalists.

True vertical validation in facial orthognathic surgery planning.

OBJECTIVES: To validate the effectiveness of the original standards of True Vertical (TV) Subnasal Line in orthognatic surgery planning. The present study evaluates the changes occurring in patients with skeletal Class II alterations programmed for orthognathic surgery with a view to improving their facial profile. STUDY DESIGN: [corrected] We showed a series of black profiles (composed by a first control group of subjects with normal occlusion, and another two additional groups comprised patients before -Group 2- and after orthognatic surgical correction of Class II malocclusion -Group 3-) for three groups of observers (orthodontists, surgeons and laypeople). The facial images became black silhouettes in order to determine a series of parameters (including aesthetic assessment) by means of the observers. Their observation were assessed using a 5-point Likert scale. RESULTS: The sample was composed of 52 profile's subjects who were tested for a total of 72 observers. Aesthetic assessment yielded mean scores of 2.57, 1.67 and 2.46 for groups 1, 2 and 3, respectively. There was a statistically significant difference (p<0.001) between group 1 versus group 2. There were no significant differences in terms of observer assessment of aesthetics, with the exception of a wider perception range among the orthodontists. Regarding the studied profile measures, significant differences were recorded for point B' and Pg' (p<0.02) between groups 2 and 3 (i.e., pre- versus post-surgery). CONCLUSIONS: The results of our study suggest the subnasale vertical and sagittal measures of the lower third of the face are decisive in facial aesthetics, and therefore also for the planning of orthognathic surgery. Consequently, these aesthetic parameters can be used as an objective tool for the planning of orthodontic treatment. Key words:Facial profile, Class II, orthognathic surgery, cephalometric analysis, facial soft tissue, subnasale vertical.

Arcos segmentados. Mecánica de cierre en las mordidas abiertas. Aportaciones clínicas / Segmented arches. Closure mechanism in open bite. Clinical contributions

La mordida abierta es una entidad muy frecuente asociada a una etiología multifactorial. De ahí que en el tratamiento haya que considerar todo el recorrido en su aparición, intentando llegar hasta los procesos etiológicos que permitan la corrección de la misma. En este trabajo, presentamos una mecánica sencilla que nos permite, mediante modificaciones en el plano oclusal (segmentación de los arcos), conseguir el cierre de la misma; este método resulta de extrema sencillez y fácilmente tolerable por el paciente. No sólo aporta un sistema eficaz en el cierre, sino una ayuda en la mecánica habitual para corregir situaciones de falta de oclusión parcial, uni o bilateral de las arcadas dentarias (AU)

Open bite is a highly common entity that is associated with a multifactorial etiology. Hence, all the steps involved in its development should be considered in its treatment, attempting to identify the etiological processes that allow this entity to be corrected. in this article, we present a simple mechanism that allows closure to be achieved through changes in the occlusal plane (arch segmentation). This method is extremely simple, and is easily tolerated by the patient. Moreover, this mechanism not only provides an effective system for closure, but also helps to correct situations of uni- or bilateral malocclusion of the dental arches (AU)

Identification process in mass graves from the Spanish Civil War II.

The identification process of a mass grave from the Spanish Civil War (1936-1939) is presented. The presumed location of the grave, as well as the presumed number and identities of the persons buried in the grave were obtained exclusively from witnesses' and relatives' testimonies. In agreement with the testimonies, the grave was located at the indicated location and five skeletons were exhumed. Also in agreement with the testimonies, the osteological and DNA study led investigators to propose the identification of two kin groups, a father and his son and a pair of brothers. But the genetic study did not support the identification of a fifth man presumed to have been buried in the grave. The differences and similarities between this case and another case reported earlier are discussed.

Forensic analysis of dog (Canis lupus familiaris) mitochondrial DNA sequences: an inter-laboratory study of the GEP-ISFG working group.

A voluntary collaborative exercise aiming at the mitochondrial analysis of canine biological samples was carried out in 2006-2008 by the Non-Human Forensic Genetics Commission of the Spanish and Portuguese Working Group (GEP) of the International Society for Forensic Genetics (ISFG). The participating laboratories were asked to sequence two dog samples (one bloodstain and one hair sample) for the mitochondrial D-loop region comprised between positions 15,372 and 16,083 using suggested primers and PCR conditions, and to compare their results against a reference sequence. Twenty-one participating laboratories reported a total of 67.5% concordant results, 15% non-concordant results, and 17.5% no results. The hair sample analysis presented more difficulty to the participants than the bloodstain analysis, with a high percentage (29%) failing to obtain a result. The high level of participation showed the interest of the community in the analysis of dog forensic samples but the results reveal that crucial methodological issues need to be addressed and further training is required in order to respond proficiently to the demands of forensic casework.

Hypertension and health-related quality of life: an epidemiological study in patients attending hospital clinics in China.

OBJECTIVE: To examine the relationship between hypertension and health-related quality of life in patients attending hospital clinics in China. DESIGN AND METHODS: A cross-sectional survey. Patients over the age of 35 years attending outpatient clinics in 18 hospitals of eight major cities of northern and southern China were interviewed between June and July, 1999. Trained fieldworkers completed questionnaires regarding demographics, hypertension knowledge and awareness, treatment history and quality of life issues. Qualified physicians performed blood pressure assessments. RESULTS: A total of 9703 volunteers were enrolled; 4510 (46.5%) had hypertension. The results showed that hypertensive subjects scored lower in the multiple linear regression analyses in most questions on the quality of life questionnaire than those without hypertension after controlling for age, sex, sociodemographic factors, and co-morbidity. There was a strikingly high prevalence of physical complaints or symptoms. Among the variables considered, age, sex, hypertension, body mass index, educational level, smoking, history of cholesterol, family history of cardiovascular diseases and history of diabetes were statistically significantly correlated with health-related quality of life. Subjects aware of having high blood pressure had a lower health-related quality of life score than subjects with high blood pressure but unaware of the diagnosis. Among treated subjects, those with controlled hypertension had higher health-related quality of life scores than those with poorly controlled hypertension. CONCLUSIONS: Hypertensive individuals represent a vulnerable population that merits special attention from healthcare providers and systems. This is especially important given that low health-related quality of life can be a risk factor for subsequent cardiovascular events or complications.

The 2000-2001 GEP-ISFG Collaborative Exercise on mtDNA: assessing the cause of unsuccessful mtDNA PCR amplification of hair shaft samples.

We report the results of Spanish and Portuguese working group (GEP) of International Society of Forensic Genetics (ISFG) Collaborative Exercise 2001-2002 on mitochondrial DNA (mtDNA) analysis. 64 laboratories from Spain, Portugal and several Latin-American countries participated in this quality control exercise. Five samples were sent to the participating laboratories, four blood stains (M1-M4) and a sample (M5) consisting of two hair shaft fragments. M4 was non-human (Felis catus) in origin; therefore, the capacity of the labs to identify the biological source of this sample was an integral part of the exercise. Some labs detected the non-human origin of M4 by carrying out immuno-diffussion techniques using antihuman serum, whereas others identified the specific animal origin by testing the sample against a set of animal antibodies or by means of the analysis of mtDNA regions (Cyt-b, 12S, and 16S genes). The results of the other three human blood stains (M1-M3) improved in relation to the last Collaborative Exercises but those related to hairs yielded a low rate of success which clearly contrasts with previous results. As a consequence of this, some labs performed additional analysis showing that the origin of this low efficiency was not the presence of inhibitors, but the low quantity of DNA present in these specific hair samples and the degradation. As a general conclusion the results emphasize the need of external proficiency testing as part of the accreditation procedure for the labs performing mtDNA analysis in forensic casework.

Awareness, treatment and control of hypertension in patients attending hospital clinics in China.

OBJECTIVES: To determine awareness, treatment and control of hypertension in patients attending hospital clinics in China. DESIGN: A cross-sectional survey. PATIENTS AND SETTING: Patients over the age of 35 years, who were attending outpatient clinics in 18 hospitals of eight major cities of Northern and Southern China, were interviewed face-to-face between June and July 1999. METHODS: Trained fieldworkers completed questionnaires regarding demographics, hypertension knowledge and awareness, treatment history and quality of life issues. Qualified physicians performed blood pressure assessment. RESULTS: A total of 9703 volunteers enrolled, of which 4510 (46.5%) were hypertensives. Among hypertensives, 23% were unaware of their high blood pressure. Although 89% of those aware reported receiving therapy, only 56% of them were taking medication regularly, and 33% were thus controlled. Although 69% of all hypertensives measuring at examination reported taking antihypertensive therapy, only 44% of them were actually taking medication regularly. Furthermore, 73% of hypertensives believed hypertension was not a serious problem, and required no regular medication. CONCLUSIONS: The results showed that a substantial number of outpatients have a hypertensive range of blood pressure. Although most of these patients are already being treated with drug regimen, the patient's misconceptions and lack of knowledge about the disease appear to be the major cause of treatment failure. The low rate of high blood pressure control for both sexes calls for further improvements.

Primer reporte de Neisseria polysaccharea en Cuba / First report of Neisseria polysaccharea in Cuba

The National Laboratory of Reference of Pathogenic Neisserias of "Pedro KourÝ" Tropical Medicine Institute studied 58 strains which had been previously identified as Neisseria meningiditis and isolated from nasopharyngeal carriers from 1985-1998. They were applied the knapp detection scheme plus the glutamiltransferase production test. The latter and the polyscharide production based on 5 sacarose allowed to make a differential diagnosis between N. meningitidis and Neisseria polyccharea. It was possible to identify a N. polysaccharia strain, a species that is reported for the first time in Cuba.

Susceptibilidad antimicrobiana de cepas de Neisseria gonorrhoeae por difusión con discos / Antimicrobial susceptibility of Neisseria gonorrhoeae strains determined by disk diffusion

The Gonoccocus Laboratory of "Pedro KourÝ" Tropical Medicine Institute carried out a study of in vitro susceptibility of Neisseria gonorrhoeae to penicillin, tetracycline, cefuroxime ceftriaxone, cefotaxine and ciprofoxacin by means of a disk diffusion method with the culture medium agar base GC plus supplement. In the first phase, the method was standardized and the reference N. gonorrhoeae ATCC 49226 strain was used whereas in the second phase, 50 gonococcal strains isolated in 8 provinces during 1995 and 1996 were examined. The results of such standardization confirmed that the antimicrobial susceptibility values were within the allowable limits. 52 and 34 of strains were resistant to penicillin and tetracycline respectively and all of them showed susceptibility to the rest of evaluated antimicrobial drugs. We recommend the use of the disk diffusion method for surveillance of gonococci resistance to these drugs in our country.

Primer reporte de Neisseria polysaccharea en Cuba / First report of Neisseria polysaccharea in Cuba

En el Laboratorio Nacional de Referencia de Neisserias Patógenas del Instituto de Medicina Tropical Pedro Kourí se estudiaron 58 cepas identificadas previamente como Neisseria meningitidis, aisladas de portadores nasofaríngeos, en el período 1985-1988. A éstas se les aplicó el esquema de identificación de Knapp, añadiéndole la prueba de la producción de g -glutamiltransferasa, esta última y la producción de polisacárido a partir de 5 por ciento de sacarosa permitieron realizar el diagnóstico diferencial entre N. meningitidis y Neisseria polysaccharea. Se logró identificar una cepa de N. polysaccharea, lo que constituye el primer reporte de esta especie en Cuba(AU)

Susceptibilidad antimicrobiana de cepas de Neisseria gonorrhoeae por difusión con discos / Susceptibility antimicrobiana of stumps of Neisseria gonorrhoeae for diffusion with disks

Se realizó en el laboratorio de Gonococo del Insituto de Medicina Tropical Pedro Kourí un estudio de la susceptibilidad in vitro de Neisseria gonorrhoeae a la penicilina, tetraciclina, cefuroxima, ceftriaxona, cefotaxina y ciprofloxacina, por el método de difusión con discos, utilizando el medio de agar base GC más suplemento. En una primera etapa se estandarizó el método y se utilizó la cepa de referencia de N. gonorrhoeae ATCC 49226. En la segunda etapa se estudiaron 50 cepas de gonococo aisladas de 8 provincias de Cuba durante 1995 y 1996. Los resultados de la estandarización demostraron que los valores de susceptibilidad antimicrobiana estaban dentro de los límites aceptados. El 52 y el 34 por ciento de las cepas fueron resistentes a la penicilina y la tetraciclina respectivamente y todas resultaron susceptibles al resto de los antimicrobianos evaluados. Recomendamos el uso del método de difusión con discos para la vigilancia de la sensibilidad del gonococo a estas drogas en nuestro país(AU)

Tratamento ortodôntico-cirúrgico da Classe III / Surgical orthodontic treatment of Class III

As desarmonias esqueléticas sempre desafiaram os limites da ortodontia, pois em sua maioria, näo podem ser totalmente corrigidas somente com a terapia ortodôntica, requisitando também movimentaçöes cirúrgicas. Este trabalho ressalta alguns itens considerados essenciais para a planificaçäo do tratamento ortodôntico-cirúrgico das Classes III, visto que o mecânica ortodôntica difere em muitos aspectos quando aplicada em um caso cirúrgico