Depresión posparto: prevalencia y relación con la tipología y función familiar / Postpartum depression: its prevalence and relation to family typology and functioning

Introducción: la depresión posparto (DPP) constituye un problema de salud pública. Se han descrito múltiples factores de riesgo biológicos y psicosociales. En Colombia no existen estudios que determinen su prevalencia con base en escalas de tamizaje y aplicación de criterios diagnósticos, así como su relación con los instrumentos de valoración familiar. Objetivo:estimar la prevalencia de DPP y su relación con condiciones clínicas, curso de vida, tipología y función familiar, en mujeres en puerperio mediato (2 a 48 horas posteriores al parto). Materiales y métodos: estudio observacional de corte transversal analítico en puerperio mediato, aplicando la escala de Edimburgo (EPDS) y los criterios DSM5 para tamizaje y diagnóstico de DPP. Se evaluaron variables sociodemográficas, antecedentes ginecoobstétricos, perinatales, condiciones clínicas y se aplicaron instrumentos de valoración familiar como curso de vida, tipología de familia y APGAR familiar. Resultados: se incluyeron 336 participantes con edad media de 27,3 años, la prevalencia de DPP fue 5.1%, las patologías prevalentes fueron preeclampsia (8.3%) y diabetes gestacional (6.3%), 58% (p<0,001) presentaban algún grado de disfunción familiar y 88% (p 0,01) hacían parte de familias nucleares. No se encontró significancia estadística para las condiciones clínicas y el curso de vida. Conclusiones: la DPP es un problema de salud mental prevalente que está relacionado con múltiples factores, entre ellos la tipología y la función familiar. Se requieren más estudios cuantitativos que permitan establecer relaciones de causalidad y con metodología cualitativa para explicar mejor este fenómeno.

Introduction: postpartum depression (PPD) is a public health issue. Multiple biological and psychosocial risk factors have been described. In Colombia there are no studies determining its prevalence based on screening scales and diagnostic criteria, as well as its relation to family functioning assessment instruments. Objective: to determine PPD prevalence in in women in the immediate postnatal period and its association with clinical conditions, life-course, and family typology and functioning. Materials and methods: an analytical cross-sectional observational study conducted in the immediate postnatal period (2 to 48 hours after delivery), using the Edinburgh scale (EPDS) and the DSM5 criteria for PPD screening and diagnosis. Sociodemographic variables such as, gynecological-obstetric, and perinatal history, and clinical conditions, were analyzed. Family functioning assessment instruments such as life-course, family typology and family APGAR, were applied. Results: 336 participants with a mean age of 27.3 years, were included. The prevalence of PPD was 5.1%, while prevalent pathologies were preeclampsia (8.3%) and gestational diabetes (6.3%). 58% (p<0.001) had a dysfunctional family to some degree and 88% (p 0.01) belonged to nuclear families. No statistical significance was found for clinical conditions and life-course. Conclusions: PPD is a prevalent mental health issue caused by multiple factors, such as family typology and functioning. Further quantitative and qualitative studies to establish causal relationships, are needed, to better understand this phenomenon.

Brain amyloid and the transition to dementia in Down syndrome.

INTRODUCTION: Down syndrome (DS) is associated with elevated risk for Alzheimer's disease (AD) due to amyloid beta (Aß) lifelong accumulation. We hypothesized that the spatial distribution of brain Aß predicts future dementia conversion in individuals with DS. METHODS: We acquired 18F-florbetapir positron emission tomography scans from 19 nondemented individuals with DS at baseline and monitored them for 4 years, with five individuals transitioning to dementia. Machine learning classification using an independent test set determined features on 18F-florbetapir standardized uptake value ratio maps that predicted transition. RESULTS: In addition to "AD signature" regions including the inferior parietal cortex, temporal lobes, and the cingulum, we found that Aß cortical binding in the prefrontal and superior frontal cortices distinguished subjects who transitioned to dementia. Classification did well in predicting transitioners. DISCUSSION: Our study suggests that specific regional profiles of brain amyloid in older adults with DS may predict cognitive decline and are informative in evaluating the risk for dementia.

Down syndrome: Distribution of brain amyloid in mild cognitive impairment.

INTRODUCTION: Down syndrome (DS) is associated with a higher risk of dementia. We hypothesize that amyloid beta (Aß) in specific brain regions differentiates mild cognitive impairment in DS (MCI-DS) and test these hypotheses using cross-sectional and longitudinal data. METHODS: 18F-AV-45 (florbetapir) positron emission tomography (PET) data were collected to analyze amyloid burden in 58 participants clinically classified as cognitively stable (CS) or MCI-DS and 12 longitudinal CS participants. RESULTS: The study confirmed our hypotheses of increased amyloid in inferior parietal, lateral occipital, and superior frontal regions as the main effects differentiating MCI-DS from the CS groups. The largest annualized amyloid increases in longitudinal CS data were in the rostral middle frontal, superior frontal, superior/middle temporal, and posterior cingulate cortices. DISCUSSION: This study helps us to understand amyloid in the MCI-DS transitional state between cognitively stable aging and frank dementia in DS. The spatial distribution of Aß may be a reliable indicator of MCI-DS in DS.

Clinical-Genetic Associations in the Prospective Huntington at Risk Observational Study (PHAROS): Implications for Clinical Trials.

IMPORTANCE: Identifying measures that are associated with the cytosine-adenine-guanine (CAG) expansion in individuals before diagnosis of Huntington disease (HD) has implications for designing clinical trials. OBJECTIVE: To identify the earliest features associated with the motor diagnosis of HD in the Prospective Huntington at Risk Observational Study (PHAROS). DESIGN, SETTING, AND PARTICIPANTS: A prospective, multicenter, longitudinal cohort study was conducted at 43 US and Canadian Huntington Study Group research sites from July 9, 1999, through December 17, 2009. Participants included 983 unaffected adults at risk for HD who had chosen to remain unaware of their mutation status. Baseline comparability between CAG expansion (≥37 repeats) and nonexpansion (<37 repeats) groups was assessed. All participants and investigators were blinded to individual CAG analysis. A repeated-measures analysis adjusting for age and sex was used to assess the divergence of the linear trend between the expanded and nonexpanded groups. Data were analyzed from April 27, 2010, to September 3, 2013. EXPOSURE: Huntington disease mutation status in individuals with CAG expansion vs without CAG expansion. MAIN OUTCOMES AND MEASURES: Unified Huntington's Disease Rating Scale motor (score range, 0-124; higher scores indicate greater impairment), cognitive (symbol digits modality is the total number of correct responses in 90 seconds; lower scores indicate greater impairment), behavioral (score range, 0-176; higher scores indicate greater behavioral symptoms), and functional (Total Functional Capacity score range, 0-13; lower scores indicate reduced functional ability) domains were assessed at baseline and every 9 months up to a maximum of 10 years. RESULTS: Among the 983 research participants at risk for HD in the longitudinal cohort, 345 (35.1%) carried the CAG expansion and 638 (64.9%) did not. The mean (SD) duration of follow-up was 5.8 (3.0) years. At baseline, participants with expansions had more impaired motor (3.0 [4.2] vs 1.9 [2.8]; P < .001), cognitive (P < .05 for all measures except Verbal Fluency, P = .52), and behavioral domain scores (9.4 [11.4] vs 6.5 [8.5]; P < .001) but not significantly different measures of functional capacity (12.9 [0.3] vs 13.0 [0.2]; P = .23). With findings reported as mean slope (95% CI), in the longitudinal analyses, participants with CAG expansions showed significant worsening in motor (0.84 [0.73 to 0.95] vs 0.03 [-0.05 to 0.11]), cognitive (-0.54 [-0.67 to -0.40] vs 0.22 [0.12 to 0.32]), and functional (-0.08 [-0.09 to -0.06] vs -0.01 [-0.02 to 0]) measures compared with those without expansion (P < .001 for all); behavioral domain scores did not diverge significantly between groups. CONCLUSIONS AND RELEVANCE: Using these prospectively accrued clinical data, relatively large treatment effects would be required to mount a randomized, placebo-controlled clinical trial involving premanifest HD individuals who carry the CAG expansion.

Structural network alterations and neurological dysfunction in cerebral amyloid angiopathy.

Cerebral amyloid angiopathy is a common form of small-vessel disease and an important risk factor for cognitive impairment. The mechanisms linking small-vessel disease to cognitive impairment are not well understood. We hypothesized that in patients with cerebral amyloid angiopathy, multiple small spatially distributed lesions affect cognition through disruption of brain connectivity. We therefore compared the structural brain network in patients with cerebral amyloid angiopathy to healthy control subjects and examined the relationship between markers of cerebral amyloid angiopathy-related brain injury, network efficiency, and potential clinical consequences. Structural brain networks were reconstructed from diffusion-weighted magnetic resonance imaging in 38 non-demented patients with probable cerebral amyloid angiopathy (69 ± 10 years) and 29 similar aged control participants. The efficiency of the brain network was characterized using graph theory and brain amyloid deposition was quantified by Pittsburgh compound B retention on positron emission tomography imaging. Global efficiency of the brain network was reduced in patients compared to controls (0.187 ± 0.018 and 0.201 ± 0.015, respectively, P < 0.001). Network disturbances were most pronounced in the occipital, parietal, and posterior temporal lobes. Among patients, lower global network efficiency was related to higher cortical amyloid load (r = -0.52; P = 0.004), and to magnetic resonance imaging markers of small-vessel disease including increased white matter hyperintensity volume (P < 0.001), lower total brain volume (P = 0.02), and number of microbleeds (trend P = 0.06). Lower global network efficiency was also related to worse performance on tests of processing speed (r = 0.58, P < 0.001), executive functioning (r = 0.54, P = 0.001), gait velocity (r = 0.41, P = 0.02), but not memory. Correlations with cognition were independent of age, sex, education level, and other magnetic resonance imaging markers of small-vessel disease. These findings suggest that reduced structural brain network efficiency might mediate the relationship between advanced cerebral amyloid angiopathy and neurologic dysfunction and that such large-scale brain network measures may represent useful outcome markers for tracking disease progression.

[Myxoid liposarcoma of the anterior mediastinum. A case report and bibliography review]. / Liposarcoma mixoide de mediastino anterior. Reporte de caso y revisión de la bibliografía.

UNLABELLED: Five cases per year. Of those cases 50% are located in the extremities and 40% are located in the trunk and retroperitoneum. Primary mediastinal liposarcomas represent less than 1% of mediastinal tumors. CLINICAL CASE: A 53 year old female, native and resident of Tabasco, with a history of anterior mediastinal tumor was treated with resection at the National Institute of Cancerology about 16 years ago with histopathological diagnosis of pleomorphic liposarcoma. She started her condition with chest pain, cough and hyaline expectoration, managed as pneumonia in her unit. Other symptoms occurred, moderate exertion dyspnea and edema of lower limbs, chest computed tomography prompted for documenting mediastinal tumor measured to be 9 × 9 cm and sent to our unit which is managed with resection.

Antecedentes: la incidencia de sarcomas de tejidos blandos es de 1.8 a 5 casos por año; 50% aparecen en las extremidades, 40% en el tronco y retroperitoneo. Los liposarcomas primarios de mediastino representan menos de 1% de los tumores mediastinales. Caso clínico: paciente femenina de 53 años de edad, originaria y residente de Tabasco, con antecedente de liposarcoma pleomórfico de mediastino anterior (durante su tercer embarazo) 16 años antes de su ingreso actual; fue tratada en el Instituto Nacional de Cancerología con resección y radioterapia. Acudió a su unidad de adscripción por dolor torácico, tos y expectoración hialina, la trataron como neumonía. Después se agregó disnea de medianos esfuerzos, y edema de miembros pélvicos; con la tomografía computada de tórax se diagnosticó un tumor mediastinal delimitado de 9 × 9 cm; la enviaron a nuestra unidad para su resección. Conclusiones: los liposarcomas representan menos de 1% de los tumores del mediastino, y requieren seguimiento a largo plazo por su alta recidiva después de un largo periodo libre de enfermedad.

Aislamiento y evaluación de la actividad enzimática de hongos descomponedores de madera (Quindío, Colombia) / Isolation of wood-decaying fungi and evaluation of their enzymatic activity (Quindío, Colombia)

Se realizó la colecta de hongos (rdas.) en troncos caídos con diferentes estados de descomposición en un bosque subandino (la reserva natural La Montaña del Ocaso) y se evaluó su actividad ligninolítica. Se cultivaron en Agar extracto de malta y se realizaron pruebas semicuantitativas de actividad lacasa utilizando como inductor enzimático el ácido 2,2’azino-bis-[3-etilbenzotiazolin-6-sulfónico] y el 2,6-diclorofenolindofenol para la celobiosa deshidrogenasa (CDH). Se seleccionaron los hongos con mayor actividad enzimática de troncos con diferente grado de descomposición: Cookeina sulcipes (de estado 1), un hongo de la familia Corticiaceae (de estado 2), Xylaria polymorpha (de estado 3) y Earliella sp. (de estado 4). La fermentación se realizó a 28°C durante 11 días, a 150r.p.m., con mediciones diarias para biomasa, glucosa, actividad lacasa, actividad CDH y proteínas. Los hongos de los troncos con estados de descomposición 1 a 3 presentaron mayor actividad lacasa, a medida que aumentaba el estado de descomposición. Hubo un aumento en la actividad CDH a medida que se incrementó el estado de descomposición de los troncos. Hubo una relación positiva entre la producción de las 2 enzimas. Earliella sp. fue el hongo con mayor producción de biomasa (1.140,19g/l), actividad lacasa (157Ul−1) y CDH (43,50Ul−1). Este trabajo es el primer reporte de actividad lacasa y CDH en C. sulcipes y Earliella sp. Además, sienta las bases para la utilización de estos hongos nativos en aplicaciones biotecnológicas y se adentra en el conocimiento de su función dentro del proceso de descomposición de la madera en bosques(AU)

White rotfungi(AscomycotaandBasidiomycota)werecollectedonfallentrunkswithdifferentdecaystages, inasubandeanforest(LaMontan˜a delOcasonaturereserve),anditwasevaluatedtheirligninoliticactivity.Theywereculturedonmaltextractagar.Thenitwasperformedsemiquantitativetestsforlaccaseand cellobiosedehydrogenase(CDH)activityusingABTSandDCPIPasenzymaticinducers.Basedontheresults ofthesetests,thefungiwithhigheractivitiesfromtrunkswithdifferentdecaystageswereselected:Cookeina sulcipes (for stage1),afungusfromthefamilyCorticiaceae(forstage2), Xylariapolymorpha (forstage 3)and Earliella sp. (forstage4).Afermentationwasperformedat28 1C, during11days,inarotatoryshaker at150rpm.Biomass,glucose,proteinsandenzymeactivitiesmeasurementswereperformeddaily.The fungithatwereinthetrunkswithdecaystatesfrom1to3,showedhigherlaccaseactivityasthestateof decayincreased.AhigherDCHactivitywasalsoassociatedwithahigher.Also,therewasapositiverelationship betweenbothenzymes’activities.Erliellawasthefunguswhichpresentedthehighestbiomass production(1140,19g/l),laccaseactivity(157UL 1) andCDHactivity(43,50UL 1). Thisworkisthefirst reportoflaccaseandCDHactivityfor Cookeina sulcipes and Earliella sp. Moreover,itgivesbasisforthe useofthesenativefungiinbiotechnologicalapplicationsandtheacknowledgmentoftheirfunctioninthe wooddecayprocessinnativeforest

[Isolation of wood-decaying fungi and evaluation of their enzymatic activity (Quindío, Colombia)]. / Aislamiento y evaluación de la actividad enzimática de hongos descomponedores de madera (Quindío, Colombia).

White rot fungi (Ascomycota and Basidiomycota) were collected on fallen trunks with different decay stages, in a subandean forest (La Montaña del Ocaso nature reserve), and it was evaluated their ligninolitic activity. They were cultured on malt extract agar. Then it was performed semiquantitative tests for laccase and cellobiose dehydrogenase (CDH) activity using ABTS and DCPIP as enzymatic inducers. Based on the results of these tests, the fungi with higher activities from trunks with different decay stages were selected: Cookeina sulcipes (for stage 1), a fungus from the family Corticiaceae (for stage 2), Xylaria polymorpha (for stage 3) and Earliella sp. (for stage 4). A fermentation was performed at 28 degrees C, during 11 days, in a rotatory shaker at 150 rpm. Biomass, glucose, proteins and enzyme activities measurements were performed daily. The fungi that were in the trunks with decay states from 1 to 3, showed higher laccase activity as the state of decay increased. A higher DCH activity was also associated with a higher. Also, there was a positive relationship between both enzymes' activities. Erliella was the fungus which presented the highest biomass production (1140,19 g/l), laccase activity (157 UL(-1)) and CDH activity (43,50 UL(-1)). This work is the first report of laccase and CDH activity for Cookeina sulcipes and Earliella sp. Moreover, it gives basis for the use of these native fungi in biotechnological applications and the acknowledgment of their function in the wood decay process in native forest.

MRI-derived measurements of human subcortical, ventricular and intracranial brain volumes: Reliability effects of scan sessions, acquisition sequences, data analyses, scanner upgrade, scanner vendors and field strengths.

Automated MRI-derived measurements of in-vivo human brain volumes provide novel insights into normal and abnormal neuroanatomy, but little is known about measurement reliability. Here we assess the impact of image acquisition variables (scan session, MRI sequence, scanner upgrade, vendor and field strengths), FreeSurfer segmentation pre-processing variables (image averaging, B1 field inhomogeneity correction) and segmentation analysis variables (probabilistic atlas) on resultant image segmentation volumes from older (n=15, mean age 69.5) and younger (both n=5, mean ages 34 and 36.5) healthy subjects. The variability between hippocampal, thalamic, caudate, putamen, lateral ventricular and total intracranial volume measures across sessions on the same scanner on different days is less than 4.3% for the older group and less than 2.3% for the younger group. Within-scanner measurements are remarkably reliable across scan sessions, being minimally affected by averaging of multiple acquisitions, B1 correction, acquisition sequence (MPRAGE vs. multi-echo-FLASH), major scanner upgrades (Sonata-Avanto, Trio-TrioTIM), and segmentation atlas (MPRAGE or multi-echo-FLASH). Volume measurements across platforms (Siemens Sonata vs. GE Signa) and field strengths (1.5 T vs. 3 T) result in a volume difference bias but with a comparable variance as that measured within-scanner, implying that multi-site studies may not necessarily require a much larger sample to detect a specific effect. These results suggest that volumes derived from automated segmentation of T1-weighted structural images are reliable measures within the same scanner platform, even after upgrades; however, combining data across platform and across field-strength introduces a bias that should be considered in the design of multi-site studies, such as clinical drug trials. The results derived from the young groups (scanner upgrade effects and B1 inhomogeneity correction effects) should be considered as preliminary and in need for further validation with a larger dataset.

Reliability of MRI-derived measurements of human cerebral cortical thickness: the effects of field strength, scanner upgrade and manufacturer.

In vivo MRI-derived measurements of human cerebral cortex thickness are providing novel insights into normal and abnormal neuroanatomy, but little is known about their reliability. We investigated how the reliability of cortical thickness measurements is affected by MRI instrument-related factors, including scanner field strength, manufacturer, upgrade and pulse sequence. Several data processing factors were also studied. Two test-retest data sets were analyzed: 1) 15 healthy older subjects scanned four times at 2-week intervals on three scanners; 2) 5 subjects scanned before and after a major scanner upgrade. Within-scanner variability of global cortical thickness measurements was <0.03 mm, and the point-wise standard deviation of measurement error was approximately 0.12 mm. Variability was 0.15 mm and 0.17 mm in average, respectively, for cross-scanner (Siemens/GE) and cross-field strength (1.5 T/3 T) comparisons. Scanner upgrade did not increase variability nor introduce bias. Measurements across field strength, however, were slightly biased (thicker at 3 T). The number of (single vs. multiple averaged) acquisitions had a negligible effect on reliability, but the use of a different pulse sequence had a larger impact, as did different parameters employed in data processing. Sample size estimates indicate that regional cortical thickness difference of 0.2 mm between two different groups could be identified with as few as 7 subjects per group, and a difference of 0.1 mm could be detected with 26 subjects per group. These results demonstrate that MRI-derived cortical thickness measures are highly reliable when MRI instrument and data processing factors are controlled but that it is important to consider these factors in the design of multi-site or longitudinal studies, such as clinical drug trials.

Interrater agreement in the assessment of motor manifestations of Huntington's disease.

With prospects improving for experimental therapeutics aimed at postponing the onset of illness in preclinical carriers of the Huntington's disease (HD) gene, we assessed agreement among experienced clinicians with respect to the motor manifestations of HD, a relevant outcome measure for preventive trials in this population. Seventy-five clinicians experienced in the evaluation of patients with early HD and six non-clinicians were shown a videotape compiled from the film archives of the United States-Venezuela Collaborative HD Research Project. Observers were asked to rate a 2-3-minute segment of the motor examination for each of 17 at-risk subjects. The rating scale ranged from 0 (normal) to 4 (unequivocal extrapyramidal movement disorder characteristic of HD). As measured by a weighted kappa statistic, there was substantial agreement among the 75 clinicians in the judgment of unequivocal motor abnormalities comparing scale ratings of 4 with ratings that were not 4 (weighted kappa = 0.67; standard error (SE) = 0.09). Agreement among the non-clinicians was only fair (weighted kappa = 0.28; SE = 0.10). Even under the artificial conditions of a videotape study, experienced clinicians show substantial agreement about the signs that constitute the motor manifestations of illness in subjects at risk for HD. We expect these findings to translate to a similar level of interobserver agreement in the clinical trial setting involving experienced investigators examining live patients.

Venezuelan kindreds reveal that genetic and environmental factors modulate Huntington's disease age of onset.

Huntington's disease (HD) is an autosomal dominant neurodegenerative disease caused by a triplet (CAG) expansion mutation. The length of the triplet repeat is the most important factor in determining age of onset of HD, although substantial variability remains after controlling for repeat length. The Venezuelan HD kindreds encompass 18,149 individuals spanning 10 generations, 15,409 of whom are living. Of the 4,384 immortalized lymphocyte lines collected, 3,989 DNAs were genotyped for their HD alleles, representing a subset of the population at greatest genetic risk. There are 938 heterozygotes, 80 people with variably penetrant alleles, and 18 homozygotes. Analysis of the 83 kindreds that comprise the Venezuelan HD kindreds demonstrates that residual variability in age of onset has both genetic and environmental components. We created a residual age of onset phenotype from a regression analysis of the log of age of onset on repeat length. Familial correlations (correlation +/- SE) were estimated for sibling (0.40 +/- 0.09), parent-offspring (0.10 +/- 0.11), avuncular (0.07 +/- 0.11), and cousin (0.15 +/- 0.10) pairs, suggesting a familial origin for the residual variance in onset. By using a variance-components approach with all available familial relationships, the additive genetic heritability of this residual age of onset trait is 38%. A model, including shared sibling environmental effects, estimated the components of additive genetic (0.37), shared environment (0.22), and nonshared environment (0.41) variances, confirming that approximately 40% of the variance remaining in onset age is attributable to genes other than the HD gene and 60% is environmental.