Publications by authors named "S S Bhate"
Article Synopsis
- Inherited glycosylphosphatidylinositol deficiency disorders (IGDs) are rare genetic conditions linked to pathogenic changes in GPI-AP genes, affecting multiple body systems and often presenting with severe neurological symptoms.
- A study analyzed 83 individuals from 75 families with IGDs, revealing that core symptoms include developmental delays (90%), seizures (83%), and motor issues (64%), along with significant brain imaging findings like cerebral atrophy in 75% of cases.
- The research highlights a wide range of phenotypic diversity, with no single dysmorphic feature being very common, and notes that individuals with certain genetic variants experience seizures earlier, indicating differences in prognosis based on genetic factors.
The human dopaminergic system is vital for a broad range of neurological processes, including the control of voluntary movement. Here we report a proband presenting with clinical features of dopamine deficiency: severe infantile parkinsonism-dystonia, characterised by frequent oculogyric crises, dysautonomia and global neurodevelopmental impairment. CSF neurotransmitter analysis was unexpectedly normal.
View Article and Find Full Text PDFIn autoimmune Type 1 diabetes (T1D), immune cells infiltrate and destroy the islets of Langerhans - islands of endocrine tissue dispersed throughout the pancreas. However, the contribution of cellular programs outside islets to insulitis is unclear. Here, using CO-Detection by indEXing (CODEX) tissue imaging and cadaveric pancreas samples, we simultaneously examine islet and extra-islet inflammation in human T1D.
View Article and Find Full Text PDFIntroduction: There is no clear consensus regarding the technique of surgical revascularization for moyamoya disease and syndrome (MMD/MMS) in the pediatric population. Previous meta-analyses have attempted to address this gap in literature but with methodological limitations that affect the reliability of their pooled estimates. This meta-analysis aimed to report an accurate and transparent comparison between studies of indirect (IB), direct (DB), and combined bypasses (CB) in pediatric patients with MMD/MMS.
View Article and Find Full Text PDFObjective: Proton beam therapy (PBT) is an increasingly used treatment modality for pediatric patients with brain tumors. Moyamoya syndrome (MMS) is well recognized as a complication of traditional photon radiotherapy, however its association with PBT is less well described. The authors discuss their initial experience with the neurosurgical management of MMS secondary to PBT in a large-volume pediatric neurovascular service.
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