Adult Attention Deficit-Hyperactivity Disorder is associated with Lewy Body Disease and Cognitive Impairment: A prospective cohort Study With 15-year Follow-Up.

OBJECTIVES: Past reports have suggested that attention-deficit/hyperactivity disorder (ADHD) may be a risk factor for Lewy body disease (LBD). To confirm this relationship, we conducted the present study. DESIGN: A prospective observational cohort study with a follow-up to 15 years. SETTING: The subjects were recruited from cognitive neurology clinics, where they attended for a cognitive complaint or health check-up. PARTICIPANTS: Two groups of subjects: ADHD adults and healthy subjects. MEASUREMENTS: The risk of dementia and LBD was estimated with Kaplan-Meier analysis comparing for the presence or absence of ADHD with the log-rank test. Predictors of conversion were assessed through separate univariate and multivariate Cox regression analyses, adjusting for several variables. RESULTS: The baseline sample consisted of 161 subjects with ADHD and 109 without ADHD. At the end of the follow-up, 31 subjects developed dementia, 27 cases in the ADHD group and 4 in comparison group. Dementia with Lewy bodies (DLB) was the most frequent type (N:20) of which 19 corresponded to the ADHD group. The incidence of non-amnestic-MCI in the ADHD group was higher representing 67.1 % of these subjects (N:108), and 17.4% (N:19) of healthy cases. The hazard ratios for dementia and LBD in the multivariate adjusted model were 3.33 (95% CI 1.0915 to 10.1699) and 54.54 (95% CI 7.4849 to 397.5028), respectively in the ADHD group. CONCLUSIONS: This study showed that adult ADHD is independently associated with an increased risk of LBD, dementia, and na-MCI. Future studies should clarify this relationship to develop preventive measures for these patients.

[Validation of the Montreal Cognitive Assessment (MoCA) as a screening tool for mild cognitive impairment in the population of Buenos Aires, Argentina]. / Validez de la prueba de Evaluación Cognitiva de Montreal (MoCA) como una herramienta de screening para detectar Deterioro Cognitivo Leve en población de Buenos Aires, Argentina.

INTRODUCTION: The Montreal Cognitive Assessment (MoCA) test is a brief tool for neuropsychological assessment. OBJECTIVE: to validate the MoCAin the population of Buenos Aires, Argentina, to allow for the use of the test for the detection of Mild Cognitive Impairment (MCI). METHODS: The sample consisted of 269 adults over 60 years old and of schooling of more than 6 years (healthy adults n = 115 and MCIn = 154). Receiver operating characteristic (ROC) analysis was used to establish the relationship between the diagnoses of the patients and the scores obtained at MoCA. The optimal cut-off points were selected, and the positive and negative predictive value were calculated for them. RESULTS: The area under the curve (AUC) was 0,741 (p <0001, 95% CI:.682 -.800) for the MMSE and 0.810 (p <0001, 95% CI:.759 -. 861) for the MoCA test. The cut point suggested using the MoCA test is 26 points, which throws .727 of sensitivity and a specificity of. 748. CONCLUSION: The MoCA test is a useful test for clinical consultation. Its brevity and simplicity place it as an interesting instrument for neuropsychological screening in the Argentinian population.

[Treatment with vitamin D and slowing of progression to severe stage of Alzheimer's disease]. / Tratamiento con vitamina D y enlentecimiento de la progresión a estadio severo en enfermedad de Alzheimer.

The aim of the study was to analyze the impact of treatment with vitamin D in the progression of Alzheimer's disease. We performed a retrospective study including patients with mild stage of Alzheimer's disease with more than four years of follow-up. The presence of cardiovascular risk factors, osteoporosis, treatment with memantine, acetylcholinesterase inhibitors drugs and vitamin D were analyzed as independent variables. Time of progression to moderate and severe Alzheimer's disease was analyzed as dependent variable. The analysis was done using multivariate linear regression model, Kaplan Meier analysis, Chi-square and T test. Two hundred and two patients met the inclusion criteria. 11% of the patients (n = 23) remained in the mild stage of the disease, 54% (n = 110) developed the moderate form in a mean time of 3 ± 1.4 years while 35% (n = 69) developed the severe form in a mean time of 4.6 ± 1.4 years. Time of progression to severe stage of Alzheimer's disease was slower in patients under treatment with vitamin D compared with those without treatment (5.4 ± 0.4 years vs. 4.4 ± 0.16 years respectively, p=0.003). Treatment with vitamin D may be an independent protecting factor in the progression of Alzheimer's disease.

Cuteness and the Power of Emotion.

Background: There is an agreement among individuals from different cultures in how they judge the cuteness of a face. There are observations suggesting that some preferences may be neurobiological rather than cultural. Most of the studies conducted use adult faces with a neutral expression; however, the mechanisms involved in rating cuteness are not exactly the same as those involved in the perception of attractiveness. Furthermore, it is not always taken into account that emotional expressions influence the impression on the beauty of a face. The objective of the study is to evaluate the influence of the different emotions on the perception of cuteness of children's faces. Materials and Methods: We included 60 adults and 21 children who observed 150 photographs of children's faces expressing the six basic emotions and had to rate facial cuteness. Results: Participants gave the highest cuteness score to faces with happy emotions (mean [M] = 6.89, 95% confidence interval [CI] 6.48-7.30) and the lowest to those that expressed negative emotions (M = 5.32, 95% CI 4.87-5.78, t(160) = 5.08, P <.001). This was evidenced in adults and children of both genders, regardless of the gender of the stimulus. Conclusions: In our study, we found that facial expression generates an impact on the perception that a subject has on the cuteness of the face. The faces that show happiness were scored as more cute compared to those that expressed anger, disgust, or sadness. We suggest that expression of positive emotions, like a smile, could increase the conducts associated with caring, placing the child in a more favorable situation for the future.

Psychosocial factors partially explain gender differences in health-related quality of life in heart failure patients.

AIMS: There is little information about the influence of gender on quality of life (QoL) in heart failure. The purpose of this study was to evaluate whether the health-related QoL gap between men and women can be explained by the interaction between psychosocial factors and clinical determinants in a real-word cohort of patients with chronic heart failure. METHODS AND RESULTS: We conducted a single-centre, observational, prospective cohort study of 1236 consecutive patients diagnosed with chronic heart failure recruited between 2004 and 2014. To assess QoL, we used the Minnesota Living with Heart Failure Questionnaire (MLHFQ). Female gender was associated with worse global QoL compared to male gender (MLHFQ overall summary score: 49 ± 23 vs. 43 ± 24; P value <0.001, respectively) and similarly had poorer scores in physical and emotional dimensions but scored better on social dimension. In univariate models and in models adjusted for clinical determinants, female gender behaved as a predictor of worse global, physical and emotional QoL, and better social QoL compared with men. In models only including psychosocial determinants and in comprehensive models including all psychosocial and clinical factors, these differences according to gender were no longer significant. CONCLUSIONS: In this study, we have shown that the gap in health-related QoL between men and women with chronic heart failure can be partially explained by the interaction between biological and psychosocial factors. Biological factors are the main drivers of QoL in HF patients. However, the contribution of psychosocial factors is essential to definitively understand the role of gender in this field.

Letter and category Fluency Test in Spanish-Speaking Children with Neurodevelopmental Disorders.

INTRODUCTION: Verbal fluency test is a short psychometric test, which is sensitive to verbal ability and executive control impairment. We did not find studies that analyze verbal fluency in relation to the neurodevelopmental disorders in Spanish-speaking children with letters P-M. Our objective was to analyze the verbal fluency of Spanish-speaking children with neurodevelopmental disorders. METHOD: We carried out a retrospective cross-sectional study to analyze the performance of children who had undergone a neuropsychological assessment. RESULTS: We included 164 patients. There were 55 (33.54%) patients with low intellectual performance (LIP), 19 (11.59%) patients with dyslexia , and 90 (54.88%) patients had an ADHD. Patients with LIP showed lower phonological fluency than patients with ADHD. As for semantic fluidity, differences were observed between patients with LIP and ADHD and also between LIP and dyslexia. The probability of having LIP was 9.6 times greater when somebody had a scale score lower than 7 in the PF task and it was 16.7 times greater when the scale score was lower than 7 in the SF task. CONCLUSIONS: There was a direct relationship between FSIQ and the performance in verbal fluency test, which is a brief and effective neuropsychological test in revealing deficits in executive functions, verbal abilities, and LIP.

Verbal Fluency Test in Children with Neurodevelopmental Disorders.

Background The verbal fluency task is a widely used psychometric test to account for cognitive functions, particularly, verbal and executive functions. Being an easy and fast test to administer, it is a good neuropsychological tool in low technology environments. Our objective was to analyze the performance in verbal fluency of Spanish-speaking children with neurodevelopmental disorders. Methods We performed a retrospective cross-sectional study to analyze the performance of children who had undergone a verbal fluency test in a neuropsychological assessment. Results We included 115 participants. There were 41 (35.65%) participants with low intellectual performance (LIP), 63 (54.78%) with attention deficit hyperactive disorder (ADHD), and 11(9.57%) participants with dyslexia. Participants with LIP showed lower phonological and semantic fluency scores than participants with ADHD, and a lower performance in semantic fluency than the dyslexia group. The probability of having LIP was 6.12 times greater when somebody had a scale score lower than 7 in the phonological task and it was 7.9 times greater when the scale score was lower than 7 in the semantic task. Conclusion There was a direct relationship between Full Scale Intelligence Quotient and verbal fluency test performance, the latter being a brief and effective neuropsychological test that can reveal deficit not only in executive functions and verbal abilities but also detect LIP.

Petty-Laxova-Wiedemann progeroid syndrome: further phenotypical delineation and confirmation of a rare syndrome of premature aging.

A 10-year-old boy with manifestations of Petty-Laxova-Wiedemann progeroid syndrome (PLWPS), a rare neonatal progeroid condition, is described and compared with those previously reported. Clinical manifestation include: severe pre- and postnatal growth retardation, "progeroid" face, large open fontanelle in infancy, umbilical hernia at birth, pseudomacrocephaly, wide calvaria, sparse scalp hair, markedly diminished subcutaneous fat, scoliosis, partial cutaneous syndactyly, aplastic and hypoplastic distal phalanges with aplasia and hypoplasia of nails, undescended testes, and normal cognitive and motor development. This appears to be one of only a handful of cases of PLWPS reported in an older child or adult.

Safety of Direct Oral Anticoagulants and Vitamin K Antagonists in Oldest Old Patients: A Prospective Study.

OBJECTIVE: The safety of direct oral anticoagulants (DOACs) in oldest old patients with nonvalvular atrial fibrillation (NVAF) in daily clinical practice has not been systematically assessed. This study examined the safety of DOACs and dicumarol (a vitamin K antagonist) in NVAF geriatric patients. DESIGN: Prospective study from January 2010 through June 2015, with follow-up through January 2016. SETTING: Geriatric medicine department at a tertiary hospital. PARTICIPANTS: A total of 554 outpatients, 75 years or older, diagnosed of NVAF and starting oral anticoagulation. MEASUREMENTS: The main outcome was bleeding, which was classified into major (including those life-threatening) and nonmajor episodes. Statistical analyses were performed with Cox regression. RESULTS: A total of 351 patients received DOACs and 193 dicumarol. Patients on DOACs were older, with more frequent comorbidities, mobility limitation and disability in activities of daily living, as well as higher mortality, than those treated with dicumarol. The incidence of any bleeding was 19.2/100 person-years among patients on DOACs and 13.7/100 person-years on dicumarol; corresponding figures for major bleeding were 5.2 for those on DOACs, and 3.3 for those on dicumarol. In crude analyses, hazard ratios (95% confidence intervals) for any bleeding, and for mayor bleeding in patients on DOACs vs dicumarol were 1.60 (1.04-2.44) and 2.22 (0.88-5.59), respectively. Excess risk of bleeding associated with DOACs vs dicumarol disappeared after adjustment for clinical characteristics, so that corresponding figures were 1.19 (0.68-2.08) and 1.01 (0.35-2.93). Results did not vary across subgroups of high-risk patients. CONCLUSION: In very old patients with NVAF, the higher risk of bleeding associated with DOACs vs dicumarol could be mostly explained by the worse clinical profile of patients receiving DOACs. Risk of bleeding was rather high, and warrants close clinical monitoring.

Usefulness of diffusion tensor imaging in amyotrophic lateral sclerosis: potential biomarker and association with the cognitive profile.

METHODS: This was a case-control study conducted from December 1, 2012 to December 1, 2014. Clinical and demographic data were recorded. A neuropsychological test battery adapted to ALS patients was used. An MRI with DTI was performed in all patients and fractional anisotropy (FA) was analyzed in the white matter using the tract based spatial statistics program. RESULTS: Twenty-four patients with ALS (15 females, mean age 66.9 + -2.3) and 13 healthy controls (four females, average age 66.9 + - 2) were included. The DTI showed white matter damage in ALS patients vs. healthy controls (p < 0.001). DISCUSSION: In our preliminary study the alterations of white matter in DTI were significantly associated with cognitive impairment in patients with ALS.

Usefulness of diffusion tensor imaging in amyotrophic lateral sclerosis: potential biomarker and association with the cognitive profile / Utilidad del tensor de difusión en esclerosis lateral amiotrofica: potencial biomarcador y asociación con el perfil cognitivo

ABSTRACT The objective of this preliminary study was to correlate diffusion tensor imaging (DTI) alterations with the cognitive profile of patients with amyotrophic lateral sclerosis (ALS). Methods This was a case-control study conducted from December 1, 2012 to December 1, 2014. Clinical and demographic data were recorded. A neuropsychological test battery adapted to ALS patients was used. An MRI with DTI was performed in all patients and fractional anisotropy (FA) was analyzed in the white matter using the tract based spatial statistics program. Results Twenty-four patients with ALS (15 females, mean age 66.9 + -2.3) and 13 healthy controls (four females, average age 66.9 + - 2) were included. The DTI showed white matter damage in ALS patients vs. healthy controls (p < 0.001). Discussion In our preliminary study the alterations of white matter in DTI were significantly associated with cognitive impairment in patients with ALS.

RESUMEN El objetivo del presente estudio preliminar fue correlacionar alteraciones del Tensor de Difusión (TD) con el perfil cognitivo de pacientes con Esclerosis Lateral Amiotrofica (ELA). Metodos Se realizó estudio casos-controles entre el 1 de Diciembre del 2012 hasta el 1 de Diciembre del 2014. Se registraron datos clínicos y demográficos. Se utilizó batería de tests neuropsicológicos adaptada a ELA. Se realizó RMN de cerebro con TD en todos los pacientes, la Fracción de Anisotropía (FA) se analizó en sustancia blanca, utilizando el programa Tract Based Spatial Statistics. Resultados Se incluyeron 24 pacientes con ELA (15 mujeres, edad media 66.9 + -2.3) y 13 controles sanos (4 mujeres, edad media 66.9 +-2). El TD mostró daño en sustancia blanca en los pacientes con ELA vs controles (p < 0.001). Discusión En nuestro estudio preliminar las alteraciones de sustancia blanca en TD se asociaron significativamente con alteraciones cognitivas en pacientes con ELA.

Fluencia verbal: un test neuropsicológico breve para la detección de trastornos cognitivos en pediatría / Verbal fluency: A rapid neuropsychological test for the detection of cognitive disorders in pediatrics

RESUMEN INTRODUCCIÓN: La fluencia verbal es un test psicométrico breve utilizado en evaluaciones neuropsicológicas para estudiar funciones ejecutivas y verbales. El desempeño en la población pediátrica en esta prueba no ha sido profundamente estudiado. Tampoco encontramos estudios en pediatría que analicen la fluidez verbal fonológica (FF) en relación al nivel intelectual utilizando la versión española con letras iniciales "P" y "M". OBJETIVO: Analizar el rendimiento en FF en función del nivel intelectual y del diagnóstico. MÉTODO: Corte transversal. Se incluyeron pacientes entre 6 y 16 años con evaluación neuropsicológica con nivel intelectual (WISCIV) y FF (NEPSYII) entre enero y junio del 2016. Se realizó una regresión lineal simple para analizar la relación entre FF y el resto de las variables de estudio. RESULTADOS: Se incluyeron 95 pacientes, edad media de 10 años. La FF mostró correlación positiva con el nivel intelectual total (CIT) (r=3,71; p<0,001; IC95 % 2,77- 4,65). El 73 % de pacientes con FF normal tuvieron un CIT normal. La probabilidad de presentar un CIT descendido presentado una FF menor de 7 fue 5,5 veces mayor (OR=5,5 p<0,003; IC95 %=2,23-13,76). Quienes presentaron una FF descendida con CIT normal (n=19), El 80 % tenía diagnóstico de trastorno por déficit de atención (15/19) y 21 % dislexia (4/19). CONCLUSIONES: Nuestros resultados tienen una importante implicancia clínica, pues no siempre se dispone del acceso y tiempo necesario para realizar una evaluación neuropsicológica extensa. El presente trabajo demuestra que la prueba FF de rápida administración con letras "P" y "M" resulta una herramienta de screening neuropsicológica efectiva en revelar déficit no sólo en funciones ejecutivas y habilidades verbales, sino también en detectar el rendimiento intelectual descendido.

SUMMARY INTRODUCTION: Verbal fluency is a brief psychometric test used in neuropsychological assessments to study executive and verbal functions. Pediatric population performance in this trial has not been thoroughly studied. We also did not find studies in pediatrics that analyze the phonological verbal fluency (FF) in relation to the intellectual level using the Spanish version with initial letters "P" and "M". OBJECTIVE: Analyze FF performance based on intellectual level and diagnosis. METHODS: It's a cross-section research. We included patients between 6 and 16 years old with neuropsychological assessment with intellectual level (WISCIV) and FF (NEPSYII) between January and June of 2016. A simple linear regression was performed to analyze the relationship between FF and the rest of the variables. RESULTS: We included 95 patients, mean age of 10 years. The FF showed a positive correlation with the total intellectual level (ITC) (r = 3.71, p <0.001, 95% CI 2.77-4.65). The 73% of patients with normal FF had a normal ITC. The probability of showing a lower ITC when the FF was lower than 7 was 5.5 times greater (OR = 5.5, p <0.003, 95% CI = 2.23-13.76). Those who presented a lower FF with normal ITC (n = 19) 80% had diagnosis of Attention Deficit Disorder (15/19) and 21% dyslexia (4/19). CONCLUSIONS: Our results have important clinical implications because the access and time necessary for an extensive neuropsychological evaluation is not always available. The present research shows that FF of 2 minutes long with letters "P" and "M" is an effective neuropsychological screening tool in revealing deficit not only in executive functions and verbal abilities, but also in detecting decreased intellectual performance. Those patients with poor performance in this test should perform a complete neuropsychological assesment in order to clarify the diagnosis.

Human disorganization complex, as a polytopic blastogenesis defect: a new case.

We describe a baby girl of 4,000 g and 55 cm with supernumerary, malformed, and partially duplicated lower limbs, malformed and partially duplicated pelvis, spina bifida, coccygeal dermal sinus, ectopic anus located in the right buttock, duplicated internal genitalia, rectovaginal fistula, ileal atresia, Meckel diverticulum, and various renal system anomalies. We think that this phenotype is a new case of disorganization in humans (DsH) and postulate that this condition constitutes a polytopic defect of the blastogenesis. In this case, the presence of a malformation pattern involving structures in different parts of the body and organs derived from all of the germ layers, suggests that the pathogenetic event most probably occurred during blastogenesis affecting various progenitors fields.

Tratamiento con vitamina D y enlentecimiento de la progresión a estadio severo en enfermedad de Alzheimer / [Treatment with vitamin D and slowing of progression to severe stage of Alzheimer’s disease].

The aim of the study was to analyze the impact of treatment with vitamin D in the progression of Alzheimer’s disease. We performed a retrospective study including patients with mild stage of Alzheimer’s disease with more than four years of follow-up. The presence of cardiovascular risk factors, osteoporosis, treatment with memantine, acetylcholinesterase inhibitors drugs and vitamin D were analyzed as independent variables. Time of progression to moderate and severe Alzheimer’s disease was analyzed as dependent variable. The analysis was done using multivariate linear regression model, Kaplan Meier analysis, Chi-square and T test. Two hundred and two patients met the inclusion criteria. 11

of the patients (n = 23) remained in the mild stage of the disease, 54

(n = 110) developed the moderate form in a mean time of 3 ± 1.4 years while 35

(n = 69) developed the severe form in a mean time of 4.6 ± 1.4 years. Time of progression to severe stage of Alzheimer’s disease was slower in patients under treatment with vitamin D compared with those without treatment (5.4 ± 0.4 years vs. 4.4 ± 0.16 years respectively, p=0.003). Treatment with vitamin D may be an independent protecting factor in the progression of Alzheimer’s disease.

Epidemiología de malformaciones congénitas en el Hospital Pedro García Clara. Ciudad Ojeda, Venezuela / Congenital malformation epidemiology at Pedro Garcia Clara Hospital. Ojeda Ciudad, Venezuela

Se presentan los resultados del estudio epidemiológico de malformaciones congénitas (MC), realizados en el Hospital Pedro García Clara de Ciudad Ojeda, Estado Zulia, desde marzo de 1989 a diciembre de 1992. Se tomó como malformación a toda alteración morfológica externa o interna, diagnósticable al examen físico del recién nacido. Además de determinar la incidencia y MC en el total de nacimientos, se analizó la condición al nacimineto, sexo, peso, número de gesta, edad materna en los niños vivos nacidos entre marzo de 1989 y agosto de 1991, se analizaron también, tipo de parto, presentación, lugar de residencia materna, edad paterna, ocupación y escolaridad materna y paterna, consanguinidad parental, abortos espontáneos previos, otros malformados en la familia y expoción durante el primer trimestre a agentes físicos, medicamentos, inmunizaciones, enfermedades agudas, crónicas y metrorragias. Para ello, se tomó como control al niño vivo sin malformaciones nacido después del malformado y con su mismo sexo. La incidencia de MC en el total de nacimientos fue de 23,4 x 1000. Las malformaciones más frecuentes fueron en su mayoría leves o susceptibles de corrección satisfactoria: anomalías de piel, de pie, otras de miembros superiores e inferiores, de maxilar y de órganos genitales. Las malformaciones más graves fueron las del Sistema Nervioso Central, especialmente del tubo neural y el síndrome de Down. De todas las variables estudiadas, sólo resultaron estadísticamente significativas, la edad materna, tipo de parto, malformados en la familia y exposición a medicamentos. Los resultados de este trabajo corroboran la importancia de los estudios de vigilancia epidemiológica de MC

Enfermedades hereditarias y malformaciones congénitas en la Unidad de Genética Médica de la Universidad del Zulia. Años: 1983-1992 / Hereditary diaseases and congenital malformations in the medical genetic unit of university of Zulia. Years: 1983-1992

La Unidad de Génetica Médica de la Universidad del Zulia (UGM-LUZ) asesora pacientes con enfermedades parcial o totalmente genéticas, de ambos sexos y de todas las edades, los cuales son referidos de centros públicos y privados por diversas especialidades. En este trabajo se presenta el análisis de 4617 historias de familias referidas para el asesoramiento (AG) a la UGM-LUZ desde enero de 1983 hasta diciembre de 1992; de ellas 54 (1,2 por ciento) fueron AG pre-nupciales, 773 (16,7 por ciento) AG pre-concepciones, 316 (6,8 por ciento) AG pre-natales y 3474 (75,3 por ciento) fueron para Ag por diagnóstico. Se diseño la base de datos utilizando un sistema manejador de base de datos relacional, lo cual permite el fácil acceso con aplicaciones interactivas de tipo Dbase. Se realizaron 5433 diagnósticos, cuyas etiologías por orden de frecuencia fueron: anomalias cromosómicas: 669 (12,32 por ciento), siendo los mas frecuentes los Síndromes de Down y Turner; enfermedades mendelianas monogéneticas: 785 (14,45 por ciento) obteniendo la mayor frecuencia los Síndromes de Marfan y Noonan, la microcefalia, la Osteogénesis Imperfecta, la Distrofia Muscular de Duchenne-Becker y la Incontinencia Pigmenti; enfermedades multifactoriales: 400 (7,36 por ciento) sobresaliendo las anomalías de cierre del tubo neural; y agentes teratógenos: 215 (3,96 por ciento) en especial radiaciones y rubeola. Además se registraron 462 (8,5 por ciento) cuadros probablemente hereditarios, 1139 (20,96 por ciento) no hereditarios, y en 1763 (32,45 por ciento) no se llegó a conclusión diagnóstica. Sería importante obtener cifras de frecuencia similares de otros centros de Genética del país con el fin de caracterizar la patología genética regional y nacional y cuantificar el impacto que ellas causan en la morbilidad, de tal forma que las autoridades de salud reconozcan la necesidad de establecer planes de prevención y atención primaria de familias con riesgo para estas patologías