Composite split cord malformation associated with a dermal sinus tract, dermoid cyst, and epidural abscess: A case report and review of literature

Background: Split cord malformation (SCM) is typically present at a single level but rarely, may be present at multiple levels in the spinal cord and can be associated with a wide array of lesions such as myelomeningoceles, lipomas, teratomas, and dermal sinus tracts (DSTs).Case description: We describe a case of a 15-month-old female child who presented with high-grade fever and progressive motor weakness in the lower limbs. Magnetic resonance imaging revealed the presence of SCM along with an epidural abscess, DST, and dermoid cyst. The child underwent surgery for excision of DST along with removal of the dermoid cyst and drainage of epidural abscess. The postoperative course was uneventful. Elective repair of the SCM was performed 4 weeks later. The postoperative course was uneventful again.Conclusion: To the best of our knowledge, the combination of a composite SCM with a DST and dermoid cyst with associated epidural abscess has rarely been reported in literature

Survival benefit of surgery in recurrent glioblastoma multiforme

There is an ongoing debate regarding role of surgery for recurrent glioblastoma multiforme (GBM). Older literature hinted at only modest survival benefits with surgery and a high rate of morbidity. However, more recent literature suggests better survival that may be attributed to better surgical techniques and better options in adjuvant treatment. Herein the authors review recent literature with regards to the possible role of surgery in recurrent GBM and also look into the key factors impacting second surgery

Cerebellopontine angle primitive neuroectodermal tumor mimicking trigeminal schwannoma

Background: Primitive neuroectodermal tumors (PNETs) comprise a group of aggressive, poorly differentiated embryonal tumors occurring in central nervous system as well as in peripheral locations. Primary cerebellopontine angle (CPA) PNET is an extremely rare entity. It is important to have knowledge of this pathology and to be able to differentiate it from other commonly occurring CPA tumors, such as vestibular and trigeminal schwannomas. This distinction is essential because of the difference in the overall treatment plan and prognosis.Case description: This report describes a case of a young male presenting with diplopia and numbness of face; magnetic resonance imaging showed a CPA mass. With a provisional diagnosis of trigeminal schwannoma, the patient underwent surgery. Histopathology provided a diagnosis of PNET.Conclusion: We discuss the importance of recognizing this rare condition and how this entity differs from the commonly occurring tumors

Value of routine preoperative tests for coagulation before elective cranial surgery. Results of an institutional audit and a nationwide survey of neurosurgical centers in Pakistan

Background: Routine preoperative blood testing has become a dogma. The general practice is to order preoperative workup as a knee-jerk response rather than individualize it for each patient. The fact that the bleeding brain tends to swell, which coupled with limited options for proximal control, packing, and overall hemostasis, leads to an overemphasis on the preoperative coagulation profile.Material and methods: This is a retrospective review of the medical records of patients admitted at Aga Khan University Hospital from January 2010 to December 2015 for an elective craniotomy. The hospital registry was used to identify files for review. Data were collected on a predefined proforma. A nationwide survey was performed, and 30 neurosurgery centers were contacted across Pakistan to confirm the practice of preoperative workup.Results: The survey revealed that all centers had a similar practice of preoperative workup. This included complete blood count, serum electrolytes, and coagulation profile, including prothrombin time, activated partial thromboplastin time (aPTT), and international normalized ratio (INR). A total of 1800 files were reviewed. Nine (0.5%) patients were found to have deranged clotting profile without any predictive history of clotting derangement; 56% were male and 44% were female. Median age was 32 years with an interquartile range of 27 years. Median aPTT was (40.8 with 20.8 IQR). Median INR was (1.59 with 0.48 IQR). Median blood loss was (400 with 50 IQR). No significant association between coagulation profile (aPTT, INR) and blood loss was found (P = 0.85, r = -0.07).Conclusions: We conclude that patients without a history of coagulopathy and normal physical examination do not require routine coagulation screening before elective craniotomy

Role of extent of resection on quality of life in patients with newly diagnosed GBM

Glioblastomas known for their adverse outcomes are most reportedly managed by surgical resection. Studies on the impact of (Extent of Resection) EOR against Quality of Life (QOL) are very limited. We have collected data from recent studies in this review to extract a general consensus among the neurosurgeons regarding the EOR. Key parameters like functional independence, neurocognitive improvements and global health status have been explored in the context of QOL. The currently available data suggests that an increased EOR may help improve QOL in GBM patients. With the help of recent advancements it may be possible to attain a better extent of resection while operating on GBMs

Factors predicting need for post-operative ventilation after microsurgical clipping of cerebral aneurysms – a multivariate analysis

Patients with aneurysmal Subarachnoid Hemorrhage (aSAH) frequently require Intensive Care Unit (ICU) beds, pre-operatively and more often, post-operatively due to the need for ventilatory support and specialized monitoring. We aimed to evaluate the frequency of post-operative ventilatory requirement in patients with aSAH and identify the possible predictive factors that might influence the need of post-operative ventilation in these patients. METHODS: We retrospectively identified a five-year data of all patients with aSAH who underwent surgical clipping using a structured proforma. Aneurysm was confirmed by Digital Subtraction Angiography (DSA) or Computerized Tomographic Angiography (CTA)

Detection of neuroendocrine tumour of sphenoid sinus on the Gallium-68 DOTATATE PET/CT: a rare entity

Neuroendocrine tumours (NETs) are a category of neoplasm that is characterised by its phenotypic and heterogeneity. The occurrence of this type of neoplasm in the nasal cavity and paranasal sinuses is extremely rare accounting for only 0.2-0.8% of all cancers. NET tends to expresses somatostatin receptors (SSTR) and owning to this unique characteristic, molecular imaging has been able to detect these tumours using radiolabelled somatostatin analogue agent. Gallium-68 (Ga-68) DOTATATE PET/CT is an example of SSTR imaging and has been shown to be of importance in the assessment and staging of NET. We present a case of a rare sphenoid sinus NET in a 45-year-old gentleman whom initially presented with persistent left eye pain which led to visual loss. We described the utilization of Ga-68 DOTATATE PET/CT in the diagnosis and staging of this patient which in turn dictated treatment approach

Static and Dynamic DNA Loops form AP-1-Bound Activation Hubs during Macrophage Development

The three-dimensional arrangement of the human genome comprises a complex network of structural and regulatory chromatin loops important for coordinating changes in transcription during human development. To better understand the mechanisms underlying context-specific 3D chromatin structure and transcription during cellular differentiation, we generated comprehensive in situ Hi-C maps of DNA loops during human monocyte-to-macrophage differentiation. We demonstrate that dynamic looping events are regulatory rather than structural in nature and uncover widespread coordination of dynamic enhancer activity at preformed and acquired DNA loops. Enhancer-bound loop formation and enhancer-activation of preformed loops represent two distinct modes of regulation that together form multi-loop activation hubs at key macrophage genes. Activation hubs connect 3.4 enhancers per promoter and exhibit a strong enrichment for Activator Protein 1 (AP-1) binding events, suggesting multi-loop activation hubs driven by cell-type specific transcription factors may represent an important class of regulatory chromatin structures for the spatiotemporal control of transcription

Multiomic Profiling Identifies cis-Regulatory Networks Underlying Human Pancreatic β Cell Identity and Function.

EndoC-βH1 is emerging as a critical human β cell model to study the genetic and environmental etiologies of β cell (dys)function and diabetes. Comprehensive knowledge of its molecular landscape is lacking, yet required, for effective use of this model. Here, we report chromosomal (spectral karyotyping), genetic (genotyping), epigenomic (ChIP-seq and ATAC-seq), chromatin interaction (Hi-C and Pol2 ChIA-PET), and transcriptomic (RNA-seq and miRNA-seq) maps of EndoC-βH1. Analyses of these maps define known (e.g., PDX1 and ISL1) and putative (e.g., PCSK1 and mir-375) β cell-specific transcriptional cis-regulatory networks and identify allelic effects on cis-regulatory element use. Importantly, comparison with maps generated in primary human islets and/or β cells indicates preservation of chromatin looping but also highlights chromosomal aberrations and fetal genomic signatures in EndoC-βH1. Together, these maps, and a web application we created for their exploration, provide important tools for the design of experiments to probe and manipulate the genetic programs governing β cell identity and (dys)function in diabetes

Global, regional, and national burden of disorders affecting the nervous system, 1990–2021: a systematic analysis for the Global Burden of Disease Study 2021

BackgroundDisorders affecting the nervous system are diverse and include neurodevelopmental disorders, late-life neurodegeneration, and newly emergent conditions, such as cognitive impairment following COVID-19. Previous publications from the Global Burden of Disease, Injuries, and Risk Factor Study estimated the burden of 15 neurological conditions in 2015 and 2016, but these analyses did not include neurodevelopmental disorders, as defined by the International Classification of Diseases (ICD)-11, or a subset of cases of congenital, neonatal, and infectious conditions that cause neurological damage. Here, we estimate nervous system health loss caused by 37 unique conditions and their associated risk factors globally, regionally, and nationally from 1990 to 2021.MethodsWe estimated mortality, prevalence, years lived with disability (YLDs), years of life lost (YLLs), and disability-adjusted life-years (DALYs), with corresponding 95% uncertainty intervals (UIs), by age and sex in 204 countries and territories, from 1990 to 2021. We included morbidity and deaths due to neurological conditions, for which health loss is directly due to damage to the CNS or peripheral nervous system. We also isolated neurological health loss from conditions for which nervous system morbidity is a consequence, but not the primary feature, including a subset of congenital conditions (ie, chromosomal anomalies and congenital birth defects), neonatal conditions (ie, jaundice, preterm birth, and sepsis), infectious diseases (ie, COVID-19, cystic echinococcosis, malaria, syphilis, and Zika virus disease), and diabetic neuropathy. By conducting a sequela-level analysis of the health outcomes for these conditions, only cases where nervous system damage occurred were included, and YLDs were recalculated to isolate the non-fatal burden directly attributable to nervous system health loss. A comorbidity correction was used to calculate total prevalence of all conditions that affect the nervous system combined.FindingsGlobally, the 37 conditions affecting the nervous system were collectively ranked as the leading group cause of DALYs in 2021 (443 million, 95% UI 378–521), affecting 3·40 billion (3·20–3·62) individuals (43·1%, 40·5–45·9 of the global population); global DALY counts attributed to these conditions increased by 18·2% (8·7–26·7) between 1990 and 2021. Age-standardised rates of deaths per 100 000 people attributed to these conditions decreased from 1990 to 2021 by 33·6% (27·6–38·8), and age-standardised rates of DALYs attributed to these conditions decreased by 27·0% (21·5–32·4). Age-standardised prevalence was almost stable, with a change of 1·5% (0·7–2·4). The ten conditions with the highest age-standardised DALYs in 2021 were stroke, neonatal encephalopathy, migraine, Alzheimer's disease and other dementias, diabetic neuropathy, meningitis, epilepsy, neurological complications due to preterm birth, autism spectrum disorder, and nervous system cancer.InterpretationAs the leading cause of overall disease burden in the world, with increasing global DALY counts, effective prevention, treatment, and rehabilitation strategies for disorders affecting the nervous system are needed