Anatomical structures and mechanisms linking genes to neuropsychiatric disorders are not deciphered. Reciprocal copy number variants at the 16p11.2 BP4-BP5 locus offer a unique opportunity to study ...the intermediate phenotypes in carriers at high risk for autism spectrum disorder (ASD) or schizophrenia (SZ). We investigated the variation in brain anatomy in 16p11.2 deletion and duplication carriers. Beyond gene dosage effects on global brain metrics, we show that the number of genomic copies negatively correlated to the gray matter volume and white matter tissue properties in cortico-subcortical regions implicated in reward, language and social cognition. Despite the near absence of ASD or SZ diagnoses in our 16p11.2 cohort, the pattern of brain anatomy changes in carriers spatially overlaps with the well-established structural abnormalities in ASD and SZ. Using measures of peripheral mRNA levels, we confirm our genomic copy number findings. This combined molecular, neuroimaging and clinical approach, applied to larger datasets, will help interpret the relative contributions of genes to neuropsychiatric conditions by measuring their effect on local brain anatomy.
The ability to temporarily maintain relevant information in mind in the presence of interference or distracting information, also called working memory (WM), is critical for higher cognitive ...functions and cognitive development. In typically developing (TD) children, WM is underpinned by a fronto-parietal network of interacting left and right brain regions. Developmental absence (agenesis) of the corpus callosum (AgCC) is a congenital brain malformation resulting from disruption of corpus callosum formation. This study aims to investigate functional organisation of WM in children and adolescents with AgCC using functional magnetic resonance imaging (fMRI). Nine children with AgCC and a comparison group of sixteen TD children aged 8–17 years completed an fMRI WM paradigm designed to enable investigation of different WM processes, i.e., encoding, maintenance and retrieval. We found that AgCC children recruited globally similar brain regions as the TD comparison group during the WM task, despite significant disparity in brain development, i.e., bilateral occipito-frontal activations during verbal encoding, and bilateral fronto-parietal executive control network during retrieval. However, compared to their TD peers, children with AgCC seemed less able to engage lateralised brain systems specialised for particular memory material (i.e. less supramarginal activations for verbal material and less fusiform activations for face processing) and particular memory process (i.e. absence of right-predominant activations during retrieval). Group differences in the pattern of activation might also reflect different cognitive strategies to cope with competition in processing resources with different susceptibility to concurrent tasks (verbal vs visual), such as differential recruitment of associative visual areas and executive prefrontal regions in the AgCC compared with the TD group depending on the concurrent task completed during maintenance. This study provides a first step towards a better understanding of functional brain networks underlying higher cognitive functions in children with AgCC.
•First study of brain related-activation during working memory in callosal agenesis.•Globally similar network in AgCC as the comparison group.•Group differences in activation may reflect different cognitive strategies.•Group differences linked to different hemispheric lateralisation.•Alternative neural pathways might compensate for callosal agenesis.
Resumen Las regiones extrapampeanas sostienen una porción relevante de la producción ganadera de Argentina (bovinos, caprinos, ovinos y camélidos), sustentada principalmente por el aporte forrajero ...de la vegetación nativa. En este contexto, es fundamental generar herramientas que permitan un manejo forrajero sustentable de estos ambientes. Para ello, el INTA implementó en 2006 una red nacional de sitios de monitoreo forrajero de la vegetación nativa. En este trabajo se analizó la productividad forrajera de 179 sitios extrapampeanos involucrados en la red (productividad anual promedio de entre 3 a 6 años). Se detectaron asimetrías regionales en cuanto a la disponibilidad de sitios monitoreados y a la longitud de las series de datos de productividad forrajera. Las regiones mejor representadas fueron el distrito ñandubay del Espinal, las estepas patagónicas, el extremo occidental de la provincia fitogeográfica chaqueña y la Puna catamarqueña. Contrariamente, el distrito oriental de la provincia fitogeográfica chaqueña, la porción central del Monte y la provincia Paranaense fueron detectadas como regiones de vacancia. En 101 de los 179 sitios de la red, la productividad forrajera herbácea (PFH) fue inferior a 1.000 kg ha-1 año-1. Lo mismo ocurrió con la productividad forrajera leñosa (PFL) en los 85 sitios evaluados. Los mayores valores de PFH se reportaron en mallines de Patagonia, vegas de la Puna, el distrito de ñandubay en el Espinal y en comunidades vegetales ribereñas de Entre Ríos. Mientras que la PFH de humedales aumentó significativamente con el incremento de la temperatura media anual (TMA), la PFH de sitios no correspondientes a humedales aumentó con la precipitación media anual (PMA). Finalmente, se observó qué sitios históricamente sobrepastoreados presentaron valores de PFH muy inferiores a sitios sometidos a pastoreo más conservativo. Los resultados de este trabajo aportan información relevante para la planificación forrajera de la ganadería a escala regional, y también pueden ser utilizados como insumo para la calibración de modelos de estimación de la productividad forrajera basados en el uso de sensores remotos.
There are multiple tools available to optimize defecation in patients with anorectal malformation (ARM), such as habits, laxatives, and retrograde or anterograde irrigations, which are usually ...adapted in a progressive and combined fashion. The objective of this study was to assess the incorporation of transanal irrigation (TAI) to constipation and fecal incontinence treatment in patients with ARM.
A retrospective study of ARM patients with indication of TAI according to the colorectal pathology unit's intestinal management protocol from 2015 to 2022 was carried out. Following use for over 3 months, patients or their guardians completed a phone survey of our own approved by the ethics committee.
39 ARM patients participated in the study. Pathologies included 11 rectourethral fistulas, 6 rectovesical fistulas, 16 cloacae, 2 rectovaginal fistulas, 2 perineal fistulas, and 2 vestibular fistulas. 44% of them had a sacral index < 0.4. 62% had constipation, and 38% had incontinence. Thanks to TAI, confidence and safety improved in a very high and a high degree in 89% of the patients, whereas time devoted to intestinal management decreased a lot in 68% of them. 79% reported a 9- and 10-point quality-of-life improvement. 92% rated overall satisfaction with TAI with a score of 8, 9, and 10 - 10 meaning "completely satisfied." 100% recommend TAI.
TAI is a good alternative for the intestinal management of fecal incontinence and constipation.
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