brain anomalies
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2022 ◽  
Vol 12 ◽  
Author(s):  
Francesco Baldo ◽  
Maura Marin ◽  
Flora Maria Murru ◽  
Egidio Barbi ◽  
Gianluca Tornese

Neuroimaging is a key tool in the diagnostic process of various clinical conditions, especially in pediatric endocrinology. Thanks to continuous and remarkable technological developments, magnetic resonance imaging can precisely characterize numerous structural brain anomalies, including the pituitary gland and hypothalamus. Sometimes the use of radiological exams might become excessive and even disproportionate to the patients’ medical needs, especially regarding the incidental findings, the so-called “incidentalomas”. This unclarity is due to the absence of well-defined pediatric guidelines for managing and following these radiological findings. We review and summarize some indications on how to, and even if to, monitor these anomalies over time to avoid unnecessary, expensive, and time-consuming investigations and to encourage a more appropriate follow-up of brain MRI anomalies in the pediatric population with endocrinological conditions.


2022 ◽  
pp. 51-68
Author(s):  
Sarah N. Mattson ◽  
Edward P. Riley

2021 ◽  
Author(s):  
Masashi Nishikawa ◽  
Hidenori Ito ◽  
Mariko Noda ◽  
Nanako Hamada ◽  
Hidenori Tabata ◽  
...  

Rac3 is a member of Rho family small GTPases which regulates cellular signaling and cytoskeletal dynamics. The RAC3 gene abnormalities have been shown to cause neurodevelopmental disorders with structural brain anomalies, including polymicrogyria/dysgyria, callosal abnormalities, brainstem anomalies, and cerebellar dysplasia. Although this evidence indicates that Rac3 is essential in brain development, not only its molecular mechanism but also the expression profile is yet to be elucidated. In this study, we carried out expression analyses of Rac3 with mouse brain tissues. In immunoblotting, Rac3 exhibited a tissue-dependent expression profile in the young adult mouse and was expressed in a developmental stage-dependent manner in brain. In primary cultured hippocampal neurons, while Rac3 was distributed mainly in the cytoplasm, it was visualized in axon and dendrites with partial localization at synapses, in consistent with the observation in biochemical fractionation analyses. In immunofluorescence analyses with brain slices, Rac3 was distributed strongly and moderately in the axon and cytoplasm, respectively, of cerebral cortex at postnatal day (P) 2 and P18. Similar distribution profile was also observed in hippocampus. Taken together, the results obtained strongly suggest that Rac3 plays an important physiological role in neuronal tissues during corticogenesis, and defects in the Rac3 function induce structural brain anomalies leading to pathogenesis of neurodevelopmental disorders.


Diagnostics ◽  
2021 ◽  
Vol 11 (11) ◽  
pp. 2056
Author(s):  
Da-Yang Chen ◽  
Inn-Chi Lee ◽  
Xing-An Wang ◽  
Swee-Hee Wong

Identifying biomarkers for hearing impairments (HIs) in patients with neonatal hypoxic–ischemic encephalopathy (HIE), to initialize early hearing habilitation, is crucial. Seventy-eight neonates with HIE were divided into the following two groups: those with HIs and those without HIs. We compared those patients with 11,837 newborns without HIE, and analyzed the risk factors of HIs among neonatal HIE. Of the 78 patients, 11 were confirmed to have an HI, which is a substantially higher percentage than in the 11,837 newborns without HIE (14.1% vs. 0.87%; p < 0.001). More patients with moderate-to-severe HIE had confirmed HIs (p = 0.020; odds ratio, 8.61) than those with mild HIE. Clinical staging, and blood lactate and glucose levels could be predictive factors for HIs among patients with HIE. The patients who exhibited HIs had significantly higher lactate (104.8 ± 51.0 vs. 71.4 ± 48.4; U = 181, p = 0.032) and serum glucose (159.5 ± 86.1 vs. 112.1 ± 62.3; U = 166, p = 0.036) levels than those without HIs. A higher prevalence of HIs was noted in the patients with stage III HIE than those with stage II HIE (43.8% vs. 10%; p = 0.008). The degree of HI correlated with brain anomalies and neurodevelopmental outcomes at 1 year of age. Clinical staging, and blood lactate and glucose levels could be predictive factors for HIs among patients with HIE.


2021 ◽  
Vol 11 ◽  
Author(s):  
Francesca Bibbò ◽  
Carmen Sorice ◽  
Veronica Ferrucci ◽  
Massimo Zollo

We analyze the fundamental functions of Prune_1 in brain pathophysiology. We discuss the importance and maintenance of the function of Prune_1 and how its perturbation influences both brain pathological conditions, neurodevelopmental disorder with microcephaly, hypotonia, and variable brain anomalies (NMIHBA; OMIM: 617481), and tumorigenesis of medulloblastoma (MB) with functional correlations to other tumors. A therapeutic view underlying recent discoveries identified small molecules and cell penetrating peptides to impair the interaction of Prune_1 with protein partners (e.g., Nm23-H1), thus further impairing intracellular and extracellular signaling (i.e., canonical Wnt and TGF-β pathways). Identifying the mechanism of action of Prune_1 as responsible for neurodevelopmental disorders (NDDs), we have recognized other genes which are found overexpressed in brain tumors (e.g., MB) with functional implications in neurodevelopmental processes, as mainly linked to changes in mitotic cell cycle processes. Thus, with Prune_1 being a significant target in NDDs, we discuss how its network of action can be dysregulated during brain development, thus generating cancer and metastatic dissemination.


Author(s):  
Sunita Bijarnia-Mahay ◽  
Puneeth H. Somashekar ◽  
Parneet Kaur ◽  
Samarth Kulshrestha ◽  
Vedam L. Ramprasad ◽  
...  

2021 ◽  
pp. 109352662110405
Author(s):  
Fabienne Paschereit ◽  
Kim Hannah Schindelmann ◽  
Michael Hummel ◽  
Joanna Schneider ◽  
Gisela Stoltenburg-Didinger ◽  
...  

Introduction Spina bifida (SB) is the most common neural tube defect in humans. Here, we analyzed systematically the neuropathological findings of the brain in SB cases. Methods 79 cases with SB aperta (SBA) and 6 cases with SB occulta (SBO) autopsied at the Charité Neuropathology from 1974 to 2000 were re-evaluated retrospectively. For this, case files and spinal cord as well as brain sections were studied. Results While no brain malformations were detected in SBO cases, 95% of SBA cases had brain malformations. Main brain anomalies identified were hydrocephalus (71%), Chiari II malformation (36%), heterotopia (34%), other cerebellar anomalies (36%), gyrification defects (33%), and ependymal denudation (29%). Hydrocephalus was observed as early as gestational week 17 and was highly associated to Chiari II and ependymal denudation. In 55% SBA was accompanied by further anomalies not primarily affecting the CNS. Conclusion We confirm using neuropathologic methods brain malformations in most SBA but none in SBO cases. In addition to our previous radiologic study, we now demonstrate the high prevalence of cerebellar malformations and cerebral heterotopias in SBA. The early detection of hydrocephalus and Chiari II malformation in fetuses raises the question whether these arise parallel rather than in strict temporal sequence.


2021 ◽  
Author(s):  
Érika G. de Assis ◽  
Luis E. Zárate ◽  
Cristiane N. Nobre

Due to evidence that Zika virus (ZIKV) infection during pregnancy caused congenital brain anomalies, including microcephaly, in 2016 the WHO declared this disease a worldwide public health problem. The objective of this work is to identify the most important characteristics for the diagnosis of children with congenital syndrome due to ZIKV virus infection. We applied machine learning algorithms to RESP-Microcephaly, a database from the Brazilian Ministry of Health that records suspected cases of congenital abnormalities. At the end of the process, the most relevant characteristics were: weight, age of the pregnant woman, length, head circumference and region where the mother lives. This information is very significant as it is in agreement with the literature that associates these attributes with critical factors for the occurrence of congenital infection.


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