Foremanmcleod8183

Neuromodulation is recommended for patients with refractory tuberous sclerosis related epilepsy (TRE) who are unable to localize epileptogenic nodules after comprehensive preoperative evaluation or for patients and families who do not agree to resection. We report a patient with refractory TRE who received deep brain stimulation of anterior thalamic nucleus (ANT-DBS) and achieved satisfactory response. To our knowledge, this is the first case of TRE being treated with ANT-DBS. A 22-year-old male was admitted to hospital for refractory TRE seeking surgical treatment. Seizures were mainly manifested by deep temporal and frontal lobe epilepsy that are suspected to originate in the limbic system. Magnetic resonance imaging revealed extensive potentially epileptogenic nodules in the brain lacking significant nodules. Scalp electroencephalogram showed a comprehensive, bilateral synchronous low voltage rapid rhythm, unable to localize seizure origin. We performed bilateral ANT-DBS according to the preoperative evaluation, and the frequency and intensity of seizures was significantly reduced after the 15-months follow-up (P＜0.05, Student t-test). Our case extends the therapeutic indications of ANT-DBS to a certain extent, providing a neuromodulation alternative to VNS for TRE who are unsuitable candidates or refuse for resection. BACKGROUND Cerebral venous complications related to neurosurgical interventions are only rarely reported in the literature. Internal cerebral veins (ICVs) are vulnerable to injury during neurosurgical approaches to the pineal and thalamic regions. The occurrence of unilateral postoperative ICV thrombosis in children is extremely rare, with only two such cases reported thus far. CASE DESCRIPTION A 15-year-old child presented to the emergency department with headache, persistent vomiting and pronounced lethargy for three days. Magnetic resonance imaging (MRI) of the brain was performed and showed a large solid-cystic mass at the pineal region, resulting in upstream hydrocephalus. Serum beta-HCG was elevated and a diagnosis of germ cell tumour was made. Patient was commenced on neo-adjuvant chemotherapy with partial response on repeat imaging after three courses of chemotherapy. Decision was made to proceed with surgical resection of the residual tumour. MRI brain performed on post-operative day one showed multiple foci of restricted diffusion in the right cerebral deep white matter, giving rise to a "string of pearls" appearance. this website There is also absence of enhancement of the right internal cerebral vein (ICV), suspicious for deep cerebral venous thrombosis. This was confirmed on subsequent CT venogram. CONCLUSIONS Our reported case adds to the limited literature on postoperative ICV thrombosis in children and describes a unique imaging phenotype of venous watershed infarcts. Neurosurgeons and neuroradiologists should be aware of this unique imaging phenotype and have a high index of suspicion for deep cerebral venous thrombosis, especially in patients with prior neurosurgical intervention in the pineal or thalamic regions. BACKGROUND Test balloon occlusion (TBO) is important in the management of complex cerebrovascular and skull base lesions when permanent occlusion (PO) of a parent artery may be indicated. Several adjuncts may be used to increase the sensitivity of TBO to predict whether PO will be tolerated. OBJECTIVE This is an observational study to evaluate the utility of internal carotid artery (ICA) TBO using single photon emission CT (SPECT) in the management of complex vascular pathology and skull base tumours. METHODS All TBO procedures performed over a 20-year period were analysed. Clinical assessment and angiographic collateral flow were combined with semi-quantitative cerebral blood flow analysis using technetium-99m HMPAO SPECT during ICA TBO. Evaluation of collateral circulation following TBO; the complications of TBO and the safety of PO following successful TBO were evaluated. RESULTS 83 patients underwent TBO without complication. Of 45 patients with satisfactory TBO, 28 proceeded to PO. Three patients developed transient ischaemic symptoms thought to be embolic in origin. 38 patients had unsatisfactory TBO, of whom 15 required PO accompanied by a bypass procedure. 40 patients in the series did not undergo permanent vessel occlusion. CONCLUSIONS SPECT-enhanced TBO is an important component of the management of complex vascular pathology and skull base tumours, permitting safe PO of the parent vessel and definitive treatment of the main pathology. Biofilm formation was shown to be associated with damaged areas of endoscope channels. We hypothesis that the passage of instruments and brushes through endoscope channels during procedures and cleaning contribute to the channel damage, bacterial attachment and biofilm formation. In this study, we compared the roughness and bacterial attachment in used and new endoscope channel in vivo and in vitro. The roughness of ten clinically used retired and seven new colonoscope biopsy channels were analysed by a Surface Profiler. For in vitro study, a flexible endoscope biopsy forceps was repeatedly passed through a curved 3.0 mm diameter Teflon® tube (which endoscope channel is made of) 100, 200, 500 times. Atomic force microscopy was used to determine the degree of inner surface damage. The number of Escherichia coli or Enterococcus faecium attached to the inner surface of new Teflon® tube and tube with 500 times biopsy forceps passes in one hour at 37oC was determined by culture. Average surface roughness of clinically used colonoscope biopsy channels is 1.5 times of the new colonoscope biopsy channels (P=0.03). Surface roughness of Teflon® tubes with 100, 200 and 500 times biopsy forceps passes is 1.05, 1.12, 3.2-fold (P=0.025) of the new Teflon® tubes respectively. The bacterial number of E. coli and E. faecium attached to Teflon® tubes with 500 times biopsy forceps passes was 2.9-fold (P=0.021) and 4.3-fold (P=0.004) of those attached to the new Teflon® tubes respectively. Our study confirmed the association of endoscope usage with biopsy channel damage and increased bacterial attachment. Mutations in the mitochondrial tRNAs have been reported to be the important cause of hearing loss. However, only a few cases have been identified thus far and the prevalence of mitochondrial tRNA mutations in hearing-impaired patients remain unclear. Here we performed the mutational analysis of 22 mitochondrial tRNA genes in a large cohort of 887 Han Chinese subjects with hearing loss by Sanger sequencing. The systemic evaluation of putative pathogenic variants was further carried out by frequency in controls ( less then 1%), phylogenetic analysis, structural analysisandfunctionalprediction. As a result, a total of 147 variants on 22 tRNA genes were identified. Among these, 39 tRNA mutations (10 pathogenic and 29 likely pathogenic) which absent or present less then 1% in 773 Chinese controls, localized at highly conserved nucleotides, or changed the modified nucleotides, could have potential structural alterations and functional significance, thereby considered to be deafness-associated mutations. Furthermore, 44 subjects carried one of these 39 pathogenic/likely pathogenic tRNA mutations with a total prevalence of 4.96%. However, the phenotypic variability and incomplete penetrance of hearing loss in pedigrees carrying these tRNA mutations indicate the involvement of modifier factors, such as nuclear encoded genes associated with mitochondrion biogenesis, mitochondrial haplotypes, epigenetic and environmental factors. Thus, our data provide the evidence that mitochondrial tRNA mutations are the important causes of hearing loss among Chinese population. These findings further increase our knowledge on the clinical relevance of tRNA mutations in the mitochondrial genome, and should be helpful to elucidate the pathogenesis of maternal hearing loss. V.Dysregulation in mitochondrial dynamics has been associated with several diseases including cancer. Present study assessed the alteration in mitochondrial fission protein (Drp1) in oral epithelial cells collected from clinically confirmed pre-cancer and cancer patients and further correlates it with the cellular apoptosis signaling. Results indicate the ROS accumulation in OSCC patients is accompanied by several changes including increase in mitochondrial mass, expression of mitochondrial fission protein (Drp1) and alteration in apoptotic signaling. The positive co-relation has been observed between the expressions of anti-apoptotic Bcl-2proteinswith mitochondrial fission protein Drp1. Higher mitochondrial fission in oral cancer cells was also correlated with the increased expression of cell cycle marker CyclinD1 indicating highly proliferative stage of oral cancer cells. The clinical correlation can be extended to develop biomarker for diagram and program in oral cancer management. Activating type 1 cannabinoid (CB1) receptor decreases the particle size of high-density lipoprotein (HDL) and inhibits reverse cholesterol transport (RCT). This study examined whether marijuana (MJ) use is associated with changes of RCT, and how the latter is associated with mitochondrial function and fluid cognition. We recruited 19 chronic MJ users and 20 nonusers with matched age, BMI, sex, ethnicity, and education. We measured their fluid cognition, mitochondrial function (basal and max respiration, ATP production) in peripheral blood mononuclear cells, cholesterol content in serum lipoprotein fractions, enterolactone/creatinine ratio in urine as a marker for dietary polyphenol intake, and lipase activity in serum. We found that higher percentage of large HDL cholesterol (HDL-C) correlated positively, while that of small HDL-C correlated inversely, with mitochondrial function among MJ users, but correlations of the opposite directions were found among nonusers. The concentrations of large and intermediate HDL-C correlated positively with mitochondrial function and fluid cognition among MJ users, but not among nonusers. Both percentage and concentration of large HDL-C correlated positively, while those of small HDL-C correlated inversely, with amounts of daily and lifetime MJ use. In all participants, higher urinary enterolactone/creatinine ratio and lower serum lipase activity were associated with higher large HDL-C/small HDL-C ratio, implying greater RCT. This study suggests that high MJ use may compromise RCT, which is strongly associated with mitochondrial function and fluid cognition among MJ users. BACKGROUND & AIM Acute liver injury (ALI) can occur if a significant acetaminophen (APAP) overdose presents too late for n-acetylcysteine treatment, which risks deterioration into acute liver failure, systemic inflammation, and death. Macrophages influence the progression and resolution of ALI due to their innate immunological function and paracrine activity. Syngeneic primary bone-marrow derived macrophages (BMDMs) were tested as a cell-based therapy in a mouse model of APAP-ALI METHODS Several phenotypically-distinct BMDM populations were delivered intravenously to APAP-ALI mice when hepatic necrosis was established, and then evaluated based on their effects on injury, inflammation, immunity, and regeneration. In vivo phagocytosis assays were used to interrogate the phenotype and function of alternatively-activated BMDMs (AAMs) post-injection. Finally, primary human AAMs sourced from healthy volunteers were evaluated in immunocompetent APAP-ALI mice. RESULTS BMDMs rapidly localised in liver and spleen within four hours of administration.