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Brain reconstruction, specially of the cerebral cortex, is a challenging task and even more so when it comes to highly gyrified brained animals. Here, we present Stitcher, a novel tool capable of generating such surfaces utilizing MRI data and manual segmentation. Stitcher makes a triangulation between consecutive brain slice segmentations by recursively adding edges that minimize the total length and simultaneously avoid self-intersection. We applied this new method to build the cortical surfaces of two dolphins: Guiana dolphin (Sotalia guianensis), Franciscana dolphin (Pontoporia blainvillei); and one pinniped: Steller sea lion (Eumetopias jubatus). Specifically in the case of P. blainvillei, two reconstructions at two different resolutions were made. Additionally, we also performed reconstructions for sub and non-cortical structures of Guiana dolphin. All our cortical mesh results show remarkable resemblance with the real anatomy of the brains, except P. blainvillei with low-resolution data. Sub and non-cortical meshes were also properly reconstructed and the spatial positioning of structures was preserved with respect to S. guianensis cerebral cortex. In a comparative perspective between methods, Stitcher presents compatible results for volumetric measurements when contrasted with other anatomical standard tools. In this way, Stitcher seems to be a viable pipeline for new neuroanatomical analysis, enhancing visualization and descriptions of non-primates species, and broadening the scope of compared neuroanatomy.
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BACKGROUND: To investigate the efficiency of a new method for the prevention of argentinian flag sign during the process of continuous, circular, and centered anterior capsulotomy (CCC) on the anterior capsule in cortically liquefied intumescent cataracts. This study was registered in an appropriate registry and the registration number of registration was xyy11[2022]-XJSFX-087; The date of of registration was 2022-04-29. METHODS: Preoperative examinations including slit-lamp examination, ocular A-scan ultrasonography, and Ultrasound Biomicroscopy (UBM) UBM were conducted on 61 patients with intumescent cataracts. Cases with cortically liquefied intumescent cataracts were selected and after staining with indocyanine green, the anterior chamber air bubble technique was used to compress the anterior capsule, and liquefied cortex was aspirated using a puncture needle. Corrected Distance Visual Acuity (CDVA) and intraocular pressure were recorded on postoperative days 1, 1 week, 1 month, and 6 months. Intraoperative and postoperative complications were documented and analyzed. RESULTS: Fifty eyes were identified as having cortically liquefied intumescent cataracts. No cases of the Argentinian flag sign occurred, and standard capsulorrhexis was achieved, facilitating smooth phacoemulsification. All patients achieved satisfactory outcomes at follow-ups of 1 day, 1 week, 1 month, and 6 months postoperatively. Mild corneal edema was observed in three cases on the first postoperative day, with no other complications noted. CONCLUSIONS: The anterior chamber air bubble technique combined with cortical fluid release technique can prevent the occurrence of the Argentinian flag sign in cortically liquefied intumescent cataracts, this method is simple, convenient and economic for the clinical promotion.
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Cámara Anterior , Catarata , Facoemulsificación , Agudeza Visual , Humanos , Femenino , Masculino , Cámara Anterior/diagnóstico por imagen , Anciano , Persona de Mediana Edad , Agudeza Visual/fisiología , Facoemulsificación/métodos , Microscopía Acústica , Aire , Capsulorrexis/métodos , Complicaciones Posoperatorias/prevención & control , Adulto , Anciano de 80 o más Años , Cápsula del Cristalino/cirugía , Cápsula del Cristalino/diagnóstico por imagenRESUMEN
OBJECTIVES: The purpose of this study was to examine long-term brain and behavioral changes in patients with fibromyalgia (FM) compared to healthy individuals. METHODS: Data from 33 female volunteers with FM and 33 healthy controls women paired by age and school degree were used to analyze the cortical thickness from high-resolution T1-weighted magnetic resonance imaging (MRI) obtained through a 3T-MRI scanner. Additionally, the Toronto Alexithymia Scale, the Positive and Negative Affect Scale, the emotion regulation questionnaire (ERQ), and the Hamilton Depression and Anxiety rating scales were used to evaluate the behavioral changes. RESULTS: The findings indicate significant cortical structure differences in the right cerebral hemisphere between groups in the insular anterior cortex precentral and postcentral gyrus (P < .001). The FM group scored higher for alexithymia (P < .01), negative affect (P < .01), anxiety (P < .01), and depression (P < .01) symptoms, on the other hand, scored lower for positive affect (P < .01). No differences were found on the left cerebral hemisphere. Furthermore, there was a negative correlation between the right insular anterior cortex and Toronto Alexithymia Scale (P < .001). CONCLUSION: This study showed long-term brain and behavioral changes in patients with FM, suggesting notable neurophysiological alterations associated with this chronic pain condition. It provides new insights into how FM may affect brain health and potential biomarkers for the condition.
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Identifying brain activity and flow direction can help in monitoring the effectiveness of neurofeedback tasks that aim to treat cognitive deficits. The goal of this study was to compare the neuronal electrical activity of the cortex between individuals from two groups-low and high difficulty-based on a spatial analysis of electroencephalography (EEG) acquired through neurofeedback sessions. These sessions require the subjects to maintain their state of attention when executing a task. EEG data were collected during three neurofeedback sessions for each person, including theta and beta frequencies, followed by a comprehensive preprocessing. The inverse solution based on cortical current density was applied to identify brain regions related to the state of attention. Thereafter, effective connectivity between those regions was estimated using the Directed Transfer Function. The average cortical current density of the high-difficulty group demonstrated that the medial prefrontal, dorsolateral prefrontal, and temporal regions are related to the attentional state. In contrast, the low-difficulty group presented higher current density values in the central regions. Furthermore, for both theta and beta frequencies, for the high-difficulty group, flows left and entered several regions, unlike the low-difficulty group, which presented flows leaving a single region. In this study, we identified which brain regions are related to the state of attention in individuals who perform more demanding tasks (high-difficulty group).
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Atención , Electroencefalografía , Neurorretroalimentación , Humanos , Neurorretroalimentación/métodos , Atención/fisiología , Electroencefalografía/métodos , Masculino , Femenino , Adulto , Adulto Joven , Encéfalo/fisiologíaRESUMEN
Malformations of cortical development (MCDs) are structural abnormalities that disrupt the normal process of cortical development in utero. MCDs include microcephaly with simplified gyral pattern/microlyssencephaly, hemimegalencephaly, focal cortical dysplasia, lissencephaly, heterotopia, polymicrogyria, and schizencephaly. The debut of MCD can be with pharmacoresistant epilepsy, developmental delay, neurologic deficits, or cognitive impairment. The diagnostic pathway for MCDs is complex owing to wide variations in presentation and etiology. Although the definitive diagnosis of MCD depends on histopathology, neuroimages have an important role in this process. Furthermore, knowing the disturbance of the molecular pathway involved is important. Increased understanding of the molecular biology and recent advances in genetic testing have caused rapid growth in the knowledge of the genetic causes of MCDs, allowing for information on prognosis, recurrence risk, and prediction of treatment outcomes.
Las malformaciones del desarrollo cortical (MDC) son alteraciones estructurales que interrumpen el proceso normal de desarrollo cortical in utero. Se incluyen la microcefalia, con patrón giral simplificado/microlisencefalia, hemimegalencefalia, displasia cortical focal, lisencefalia, heterotopía, polimicrogiria y esquizencefalia. Se presentan con epilepsia farmacorresistente, retraso del desarrollo, déficit neurológico o compromiso cognitivo. El diagnóstico es complejo debido a la amplia variedad en su presentación y etiología. Aunque el diagnóstico definitivo es por anatomía patológica, las neuroimágenes cumplen un rol fundamental. Además, es sumamente importante conocer la alteración en el mecanismo molecular involucrado en la fisiopatogenia de la malformación. El creciente desarrollo de la biología molecular y de los estudios genéticos han mejorado el conocimiento de las causas genéticas de las MDC. Esto permitirá mejorar el pronóstico, consejo genético y probablemente las opciones terapéuticas.
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Malformaciones del Desarrollo Cortical , Humanos , Malformaciones del Desarrollo Cortical/genética , Malformaciones del Desarrollo Cortical/diagnóstico , Malformaciones del Desarrollo Cortical/diagnóstico por imagen , Imagen por Resonancia Magnética , Corteza Cerebral/anomalías , Corteza Cerebral/embriologíaRESUMEN
OBJECTIVE: To examine the effect of nutritional counseling therapy (NCT) combined with transcranial direct current stimulation (tDCS) on Binge Eating Disorder (BED) symptoms. METHODS: 40 women with BED were randomly (ratio of 2:2:2) allocated to one of the groups: active tDCS (a-tDCS), NCT, sham tDCS (s-tDCS) with NCT, and a-tDCS with NCT. Home-based tDCS was applied to the dorsolateral prefrontal cortex for 28 sessions. RESULTS: A mixed analysis of variance showed no main effect between groups or a time × group interaction. However, a significant main effect was found for time on the primary outcome: Binge Eating Scale (p = 0.001; eta2p= 0.325), which tended to decrease during treatment and follow-up. A significant main effect was found on the secondary outcome: short-interval intracortical inhibition (SICI) (p = 0.02; eta2p= 0.112), a measure of inhibitory function, which increased from baseline to the final period in the a-tDCS group, without significant differences between groups. CONCLUSIONS: These findings reveal that the combined therapy did not have a synergic effect on BED symptoms. Since this is a pilot study and this is a promising area, we provide data to plan future larger-scale studies investigating the effects of tDCS and behavioral interventions in BED treatment.
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TRPM4 is a non-selective cation channel activated by intracellular Ca2+ but only permeable to monovalent cations, its activation regulates membrane potential and intracellular calcium. This channel participates in the migration and adhesion of non-excitable cells and forms an integral part of the focal adhesion complex. In neurons, TRPM4 expression starts before birth and its function at this stage is not clear, but it may function in processes such as neurite development. Here we investigate the role of TRPM4 in neuritogenesis. We found that neurons at DIV 0 express TRPM4, the inhibition of TRPM4 using 9-Ph reduces neurite number and slows the progression of neurite development, keeping neurons in stage 1. The genetic suppression of TRPM4 using an shRNA at later stages (DIV2) reduces neurite length. Conversely, at DIV 0, TRPM4 inhibition augments the Cch-induced Ca2 + i increase, altering the calcium homeostasis. Together, these results show that TRPM4 participates in progression of neurite development and suggest a critical role of the calcium modulation during this stage of neuronal development.
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Calcio , Corteza Cerebral , Neuritas , Neurogénesis , Canales Catiónicos TRPM , Canales Catiónicos TRPM/metabolismo , Canales Catiónicos TRPM/antagonistas & inhibidores , Animales , Neuritas/metabolismo , Neuritas/efectos de los fármacos , Calcio/metabolismo , Corteza Cerebral/citología , Corteza Cerebral/metabolismo , Neuronas/metabolismoRESUMEN
The cell-intrinsic mechanisms underlying the decision of a stem/progenitor cell to either proliferate or differentiate remain incompletely understood. Here, we identify the transmembrane protein Lrig1 as a physiological homeostatic regulator of FGF2-driven proliferation and self-renewal of neural progenitors at early-to-mid embryonic stages of cortical development. We show that Lrig1 is expressed in cortical progenitors (CPs), and its ablation caused expansion and increased proliferation of radial/apical progenitors and of neurogenic transit-amplifying Tbr2+ intermediate progenitors. Notably, our findings identify a previously unreported EGF-independent mechanism through which Lrig1 negatively regulates neural progenitor proliferation by modulating the FGF2-induced IL6/Jak2/Stat3 pathway, a molecular cascade that plays a pivotal role in the generation and maintenance of CPs. Consistently, Lrig1 knockout mice showed a significant increase in the density of pyramidal glutamatergic neurons placed in superficial layers 2 and 3 of the postnatal neocortex. Together, these results support a model in which Lrig1 regulates cortical neurogenesis by influencing the cycling activity of a set of progenitors that are temporally specified to produce upper layer glutamatergic neurons.
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Janus Quinasa 2 , Glicoproteínas de Membrana , Ratones Noqueados , Células-Madre Neurales , Neurogénesis , Neuronas , Factor de Transcripción STAT3 , Transducción de Señal , Animales , Factor de Transcripción STAT3/metabolismo , Factor de Transcripción STAT3/genética , Janus Quinasa 2/metabolismo , Células-Madre Neurales/metabolismo , Células-Madre Neurales/citología , Ratones , Neurogénesis/genética , Neuronas/metabolismo , Neuronas/citología , Glicoproteínas de Membrana/metabolismo , Glicoproteínas de Membrana/genética , Proliferación Celular , Corteza Cerebral/metabolismo , Corteza Cerebral/citología , Corteza Cerebral/embriología , Diferenciación Celular , Factores de Crecimiento de Fibroblastos/metabolismo , Proteínas del Tejido NerviosoRESUMEN
Cortical organoids derived from human induced pluripotent stem cells (hiPSCs) represent a powerful in vitro experimental system to investigate human brain development and disease, often inaccessible to direct experimentation. However, despite steady progress in organoid technology, several limitations remain, including high cost and variability, use of hiPSCs derived from tissues harvested invasively, unexplored three-dimensional (3D) structural features and neuronal connectivity. Here, using a cost-effective and reproducible protocol as well as conventional two-dimensional (2D) immunostaining, we show that cortical organoids generated from hiPSCs obtained by reprogramming stem cells from human exfoliated deciduous teeth (SHED) recapitulate key aspects of human corticogenesis, such as polarized organization of neural progenitor zones with the presence of outer radial glial stem cells, and differentiation of superficial- and deep-layer cortical neurons and glial cells. We also show that 3D bioprinting and magnetic resonance imaging of intact cortical organoids are alternative and complementary approaches to unravel critical features of the 3D architecture of organoids. Finally, extracellular electrical recordings in whole organoids showed functional neuronal networks. Together, our findings suggest that SHED-derived cortical organoids constitute an attractive model of human neurodevelopment, and support the notion that a combination of 2D and 3D techniques to analyze organoid structure and function may help improve this promising technology.
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Corteza Cerebral , Pulpa Dental , Células Madre Pluripotentes Inducidas , Organoides , Humanos , Organoides/fisiología , Organoides/citología , Pulpa Dental/citología , Pulpa Dental/fisiología , Células Madre Pluripotentes Inducidas/citología , Células Madre Pluripotentes Inducidas/fisiología , Corteza Cerebral/citología , Corteza Cerebral/fisiología , Diferenciación Celular/fisiología , Células Cultivadas , Neuronas/citología , Neuronas/fisiologíaRESUMEN
Resumen El tracto oblicuo frontal (TOF) conecta el área mo tora suplementaria (AMS) con la pars opercularis. Su rol en el lenguaje y su implicancia en la cirugía de gliomas siguen en discusión. Presentamos un estu dio anatomoquirúrgico de tres casos con resolución quirúrgica. Se operaron tres pacientes con gliomas en el lóbu lo frontal izquierdo utilizando protocolo de paciente despierto con técnicas de mapeo cortical y subcortical realizando evaluación motora y del lenguaje. Las trac tografías fueron realizadas con el software DSI Studio. Los tres pacientes presentaron inhibición intraopera toria del lenguaje mediante la estimulación subcortical de TOF. La resección en contacto con el TOF se correla cionó con déficits del lenguaje en todos los casos y en dos casos déficits en la iniciación del movimiento. Todos los pacientes recuperaron su déficit a los seis meses postoperatorios. En conclusión, se ha logrado reconstruir al tracto. Éste presenta una complejidad anatómica y funcional, que apoya la idea de su mapeo y preservación en la cirugía de gliomas. Futuros estudios interdisciplinarios son necesarios para determinar el carácter transitorio o permanente de los déficits.
Abstract The frontal aslant tract (FAT) connects the supple mentary motor area (SMA) with the pars opercularis. Its role in language and its implications in glioma sur gery remain under discussion. We present an anatomo-surgical study of three cases with surgical resolution. Three patients with gliomas in the left frontal lobe were operated on using an awake patient protocol with cortical and subcortical mapping techniques, conduct ing motor and language evaluations. Tractography was performed using DSI Studio software. All three patients showed intraoperative language inhibition through subcortical stimulation of the FAT. Resection involving the FAT correlated with language deficits in all cases and movement initiation deficits in two cases. All patients recovered from their deficits at six months postoperatively. In conclusion, the tract has been successfully re constructed, showing both anatomical and functional complexity, supporting the idea of its mapping and preservation in glioma surgery. Future interdisciplin ary studies are necessary to determine the transient or permanent nature of the deficits.
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RESUMEN La hiperostosis cortical infantil (HIC) o enfermedad de Caffey es un trastorno óseo autolimitado que se caracteriza por fiebre, irritabilidad, inflamación de los tejidos blandos y engrosamiento cortical de uno o más huesos. Es más común en el primer semestre de vida. Se informa el caso de un lactante de 3 meses con las características clínico-radiográficas propias de la enfermedad y los hallazgos de laboratorio más comunes que permitieron un acertado diagnóstico y seguir una conducta adecuada. El cuadro agudo se mantuvo durante pocos días y se observó resolución total del edema en cuatro semanas. El reconocimiento de esta rara infección evitará adoptar métodos diagnósticos y terapéuticos invasivos para el paciente.
ABSTRACT Infantile cortical hyperostosis (ICH) or Caffey disease is a self-limiting bone disorder characterized by fever, irritability, soft tissue swelling and cortical bone thickening. It is more common in infants < 6 months of age. We report the case of a 3-month-old infant with the clinical and radiographic characteristics of the disease and the most common laboratory findings which enabled an accurate diagnosis and appropriate management. The acute episode persisted for several days, followed by a complete resolution of the edema within four weeks. Identifying this rare infection will help avoid invasive diagnostic and therapeutic strategies.
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Background: The Parkinson's Disease-Cognitive Rating Scale (PD-CRS) is a widely used tool for detecting mild cognitive impairment (MCI) in Parkinson's Disease (PD) patients, however, the neuroanatomical underpinnings of this test's outcomes require clarification. This study aims to: (a) investigate cortical volume (CVol) and cortical thickness (CTh) disparities between PD patients exhibiting mild cognitive impairment (PD-MCI) and those with preserved cognitive abilities (PD-IC); and (b) identify the structural correlates in magnetic resonance imaging (MRI) of overall PD-CRS performance, including its subtest scores, within a non-demented PD cohort. Materials and methods: This study involved 51 PD patients with Hoehn & Yahr stages I-II, categorized into two groups: PD-IC (n = 36) and PD-MCI (n = 15). Cognitive screening evaluations utilized the PD-CRS and the Montreal Cognitive Assessment (MoCA). PD-MCI classification adhered to the Movement Disorder Society Task Force criteria, incorporating extensive neuropsychological assessments. The interrelation between brain morphology and cognitive performance was determined using FreeSurfer. Results: Vertex-wise analysis of the entire brain demonstrated a notable reduction in CVol within a 2,934 mm2 cluster, encompassing parietal and temporal regions, in the PD-MCI group relative to the PD-IC group. Lower PD-CRS total scores correlated with decreased CVol in the middle frontal, superior temporal, inferior parietal, and cingulate cortices. The PD-CRS subtests for Sustained Attention and Clock Drawing were associated with cortical thinning in distinct regions: the Clock Drawing subtest correlated with changes in the parietal lobe, insula, and superior temporal cortex morphology; while the PD-CRS frontal-subcortical scores presented positive correlations with CTh in the transverse temporal, medial orbitofrontal, superior temporal, precuneus, fusiform, and supramarginal regions. Additionally, PD-CRS subtests for Semantic and Alternating verbal fluency were linked to CTh changes in orbitofrontal, temporal, fusiform, insula, and precentral regions. Conclusion: PD-CRS performance mirrors neuroanatomical changes across extensive fronto-temporo-parietal areas, covering both lateral and medial cortical surfaces, in PD patients without dementia. The observed changes in CVol and CTh associated with this cognitive screening tool suggest their potential as surrogate markers for cognitive decline in PD. These findings warrant further exploration and validation in multicenter studies involving independent patient cohorts.
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BACKGROUND: This study aimed to evaluate the biological behavior of a novel implant design incorporating decompressive cervical blades. Hence, the aim of the present study was to evaluate the healing outcomes in cortical regions where decompressive protocols were implemented using implants equipped with blades and installed applying a bicortical anchorage. MATERIALS AND METHODS: Blades with varying diameters were integrated into the coronal portion of the implant to prepare the cortical region of rabbit tibiae. The blade diameters differed from the implant collar by the following amounts: control group (0 µm), +50 µm, and +200 µm. RESULTS: No marginal bone loss was detected. Instead, all implants exhibited new bone formation in the coronal region. Complete closure was observed in the CG-0 group, as well as in the TG-50 and TG-200 groups, despite the presence of marginal gaps without primary bone contact at installation. In the apical region, most implants breached the cortical layer. Nevertheless, new bone formation in this region completely closed the osteotomy, effectively isolating the internal environment of the tibia from the external. CONCLUSIONS: The use of a blade incorporated into the implant body enabled precise preparation of the cortical layer, allowing for controlled decompression in the targeted area. This technique resulted in optimal osseointegration with no loss of marginal bone, and complete restoration of marginal gaps ranging from 0 µm to 200 µm.
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TRPM4 is a calcium activated non-selective cation channel, impermeable to Ca2+, in neurons it has been implicated in the regulation of the excitability and in the persistent firing. Cholinergic stimulation is also implicated in changes in excitability that leads neurons to an increased firing frequency, however it is not clear whether TRPM4 is involved in the cholinergic-induced increase in firing frequency. Here using a combination of patch clamp electrophysiology, Ca2+ imaging, immunofluorescence, fluorescence recovery after photobleaching (FRAP) and pharmacological approach, we demonstrate that carbachol (Cch) increases firing frequency, intracellular Ca2+ and that TRPM4 inhibition using 9-Ph and CBA reduces firing frequency and decreases the peak in intracellular Ca2+ induced by Cch in cortical pyramidal neurons in culture. Moreover, we determined that cholinergic stimulation reduces TRPM4 recycling and stabilizes TRPM4 in the plasma membrane. Together our results indicate that cholinergic stimulation increases firing in a TRPM4 dependent manner, and also increases the TRPM4 stability in the membrane, suggesting that TRPM4 is locked in microdomains in the membrane, possibly signaling or cytoskeleton proteins complexes.
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Cortical lacunae caused by drought, especially observed in hybrids originating from Vitis rupestris, disrupt the connection between roots and soil. Yet, the physiological processes behind lacuna formation during drought and its consistency across Vitis species remain unclear. Here, we used a root pressure probe to investigate fine root hydraulic and mechanical properties, in the arid-adapted R-65 and drought-susceptible 101-14Mgt cultivars. We then performed P-V curves, root sap osmolality, and electrolyte leakage (EL) and used fluorescent light microscopy techniques. Only 101-14Mgt showed lacunae formation during drought due to its stiffer cortical tissue, unlike R-65. Lacunae resulted in a notable decline in root hydraulic conductivity during severe drought, with increased EL and root sap osmolality, indicating potential cellular damage. R-65 displayed different and xerophyte-like characteristics featuring a higher turgor loss point and decreased root capacitance, essential for maintaining root structural integrity in arid conditions. Our findings highlight lacuna formation is impacted by root tissue elasticity possibly linked to specific Vitis species favoring deeper rooting. In arid-adapted grapevines, hydraulic regulators such as reduced turgor loss point, and root capacitance could contribute to enhanced drought tolerance.
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Clima Desértico , Sequías , Raíces de Plantas , Vitis , Vitis/fisiología , Raíces de Plantas/fisiología , Raíces de Plantas/anatomía & histología , Adaptación Fisiológica , Agua/fisiología , Agua/metabolismo , ChileRESUMEN
Se presenta el caso de un lactante de 2 meses que fue llevado a consulta varias veces por llanto problemático, inicialmente interpretado como de causa gastrointestinal. Dado que el síntoma persistía, se sospechó de una fractura debido a su asociación con la movilización de los miembros y la palpación de una tumoración en la cara anterior de la tibia derecha. Las radiografías mostraron compromiso poliostótico diafisario y lesiones compatibles con compromiso cortical de huesos largos. Se realizó el diagnóstico operativo de síndrome de Caffey-De Toni-Silverman y se inició el tratamiento con antiinflamatorios no esteroideos, lo que resultó en una remisión sintomática. Posteriormente, se confirmó el diagnóstico mediante la identificación de la variante patogénica COL1A1 en estado heterocigota. Se trata de una patología rara de la cual se estima una incidencia de 48/100 000 y hay menos de 150 casos descritos al momento.
Here we describe the case of a 2-month-old infant who consulted several times due to excessive crying, initially interpreted as having a gastrointestinal cause. Since the symptom persisted, a fracture was suspected due to its association with mobilization of the limbs and palpation of a mass on the anterior aspect of the right tibia. X-rays showed diaphyseal polyostotic involvement and lesions compatible with cortical involvement of long bones. Caffey-De Toni-Silverman syndrome was diagnosed and treatment with nonsteroidal anti-inflammatory drugs was initiated, resulting in symptom remission. Subsequently, the diagnosis was confirmed by the identification of the pathogenic heterozygous variant COL1A1. This is a rare condition with an estimated incidence of 48/100 000 individuals, and less than 150 cases have been described to date.
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Humanos , Masculino , Lactante , Llanto , Hiperostosis Cortical Congénita/diagnóstico , Colágeno Tipo I/genética , Cadena alfa 1 del Colágeno Tipo IRESUMEN
Sensory development is a complex process that can influence physiological and pathological factors. In laterally-eyed mammals, monocular enucleation (ME) during development and the subsequent lack of external sensory stimuli can result in permanent morphological and physiological changes. Malnutrition, especially in early life, also can cause permanent morphofunctional changes due to inadequate nutrient intake in both hemispheres. This study investigated the effects of early (postnatal day 7) ME and malnutrition during the suckling period on cortical excitability in adulthood (110-140 days of life). For this, we compared the speed propagation of cortical spreading depression in the occipital and parietal cortex of malnourished and well-nourished adult rats, previously suckled small-sized litters with three pups (L3/dam) medium-sized litters with six pups (L6/dam), and large-sized litters with twelve pups (L12/dam). The CSD velocity was augmented by the ME in the contralateral side of the removed eye in the parietal and occipital cortex. These findings suggest that visual sensory input deprivation is associated with permanent functional changes in the visual pathways, which can alter cortical excitability and lead to modifications in CSD propagation.
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Depresión de Propagación Cortical , Enucleación del Ojo , Desnutrición , Ratas Wistar , Animales , Depresión de Propagación Cortical/fisiología , Desnutrición/fisiopatología , Desnutrición/complicaciones , Ratas , Masculino , Femenino , Animales Recién Nacidos , Lóbulo Occipital/fisiopatología , Lóbulo Parietal/fisiopatologíaRESUMEN
The frontal aslant tract (FAT) connects the supplementary motor area (SMA) with the pars opercularis. Its role in language and its implications in glioma surgery remain under discussion. We present an anatomosurgical study of three cases with surgical resolution. Three patients with gliomas in the left frontal lobe were operated on using an awake patient protocol with cortical and subcortical mapping techniques, conducting motor and language evaluations. Tractography was performed using DSI Studio software. All three patients showed intraoperative language inhibition through subcortical stimulation of the FAT. Resection involving the FAT correlated with language deficits in all cases and movement initiation deficits in two cases. All patients recovered from their deficits at six months postoperatively. In conclusion, the tract has been successfully reconstructed, showing both anatomical and functional complexity, supporting the idea of its mapping and preservation in glioma surgery. Future interdisciplinary studies are necessary to determine the transient or permanent nature of the deficits.
El tracto oblicuo frontal (TOF) conecta el área motora suplementaria (AMS) con la pars opercularis. Su rol en el lenguaje y su implicancia en la cirugía de gliomas siguen en discusión. Presentamos un estudio anatomoquirúrgico de tres casos con resolución quirúrgica. Se operaron tres pacientes con gliomas en el lóbulo frontal izquierdo utilizando protocolo de paciente despierto con técnicas de mapeo cortical y subcortical realizando evaluación motora y del lenguaje. Las tractografías fueron realizadas con el software DSI Studio. Los tres pacientes presentaron inhibición intraoperatoria del lenguaje mediante la estimulación subcortical de TOF. La resección en contacto con el TOF se correlacionó con déficits del lenguaje en todos los casos y en dos casos déficits en la iniciación del movimiento. Todos los pacientes recuperaron su déficit a los seis meses postoperatorios. En conclusión, se ha logrado reconstruir al tracto. Éste presenta una complejidad anatómica y funcional, que apoya la idea de su mapeo y preservación en la cirugía de gliomas. Futuros estudios interdisciplinarios son necesarios para determinar el carácter transitorio o permanente de los déficits.
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Neoplasias Encefálicas , Lóbulo Frontal , Glioma , Humanos , Neoplasias Encefálicas/cirugía , Neoplasias Encefálicas/diagnóstico por imagen , Neoplasias Encefálicas/patología , Glioma/cirugía , Glioma/diagnóstico por imagen , Glioma/patología , Masculino , Lóbulo Frontal/cirugía , Lóbulo Frontal/diagnóstico por imagen , Persona de Mediana Edad , Femenino , Adulto , Procedimientos Neuroquirúrgicos/métodos , Mapeo Encefálico/métodos , Corteza Motora/diagnóstico por imagen , Corteza Motora/cirugía , Corteza Motora/anatomía & histología , Imagen de Difusión TensoraRESUMEN
Arnold Pick described a series of cases with progressive aphasia, behavioural disorders, and dementia. The post-mortem examination revealed on macroscopy, beside diffuse brain atrophy, also circumscribed (lobar) atrophy of the temporal and/or frontal lobes. The histopathology was not provided. Such kind of cases were soon named after the author, being known for a time as 'Pick's disease', coming to constitute a new nosological group. A time later after the original description, Alois Alzheimer and Oskar Fischer completed microscopic examination of similar cases, where the first author found, on silver impregnation, spheric neuronal inclusions, he named 'argentophilic ball' inclusions, while the second one identified complex cortical changes he named 'spongiform cortical wasting', and additionally a type of swollen cell that was named 'ballooned neuron'. Such microscopic changes became the first histopathological markers of this group of diseases.
Arnold Pick descreveu uma série de casos apresentando, de modo progressivo, afasia, transtornos de comportamento e demência. O exame pós-morte revelou à macroscopia, além de atrofia cerebral difusa, também atrofia circunscrita (lobar) dos lobos temporais e/ou frontais. A histopatologia não foi fornecida. Tal tipo de casos foi logo denominado segundo o autor, sendo conhecido por um período como 'doença de Pick', vindo a constituir um novo grupo nosológico. Algum tempo após a discrição original, Alois Alzheimer e Oskar Fischer perfizeram exame microscópio de casos semelhantes, onde o primeiro autor encontrou inclusões neuronais esféricas à impregnação pela prata, que denominou de 'bola argirofílica', enquanto o segundo identificou alterações corticais complexas às quais denominou 'perda cortical espongiforme', além de um tipo de célula tumefeita que chamou de 'neurônio balonizado'. Tais alterações microscópicas tornaram-se os primeiros marcadores histopatológicos desse grupo de doenças.
RESUMEN
Resumen La aparición de convulsiones es frecuente durante el periodo neonatal debido a las características de inma durez funcional del cerebro es este periodo. La aparición de estas convulsiones puede llevar a un diagnóstico de epilepsia neonatal, que suele estar asociado a alteracio nes estructurales del cerebro durante el neurodesarrollo. Aproximadamente el 50% de las personas con epilepsia activa padecen al menos un trastorno médico comórbi do, y esto hace que cambie la evolución de la epilepsia. La presencia de trastornos neurológicos que preceden a la aparición de la epilepsia indica que alteraciones es tructurales y/o funcionales del cerebro subyacentes pue den ser causa de la predisposición a padecer epilepsia y de los procesos comórbidos de manera independiente. En esta revisión describimos los procesos cerebrales estructurales y funcionales que subyacen a la aparición de epilepsia neonatal y sus comorbilidades.
Abstract The occurrence of seizures is frequent during the neonatal period due to the functional immaturity of the brain.The presence of these seizures may lead to a diagnosis of neonatal epilepsy, which is usually as sociated with structural alterations of the brain during neurodevelopment. Approximately 50% of people with active epilepsy have at least one comorbid medical di sorder, and the existence of a comorbid process changes the course of the epilepsy. The presence of neurologic disorders preceding the onset of epilepsy indicates that underlying neurobiological alterations may indepen dently cause the predisposition to epilepsy and comor bid processes. In this review we describe the structural and functional brain processes underlying the onset of neonatal epilepsy and its comorbidities.