Adult Onset Episodic Encephalopathy Due to Citrin Deficiency-A Case Report.

Hyperammonemia is a rare cause of adult episodic encephalopathy. Citrin deficiency resulting in citrullinemia type 2 (CTLN2) can lead to recurrent delirium in adults. Here we report a case of adult onset episodic encephalopathy due to citrin deficiency. A 40 years old male presented with one-year history of episodic encephalopathy triggered by high protein and fat diet. He also had chronic pancreatitis and subacute intestinal obstruction which is a novel manifestation of CTLN2. Evaluation showed elevated blood liver enzymes, ammonia, and citrulline. MRI brain showed frontal hyperintensities and bulky basal ganglia which have not been reported. Diagnosis was confirmed by next-generation sequencing which showed a novel variant c. 1591G > A in exon15 of SLC25A13. Hyperammonemic syndromes should be considered in differential diagnosis of episodic encephalopathy in adults. This report shows novel features of subacute intestinal obstruction and MRI findings in CTLN2 expanding spectrum of manifestation.

Interleukin-17 and Interleukin-10 Association with Disease Progression in Schizophrenia.

BACKGROUND: Alteration in cytokine levels are known to be involved in the pathogenesis of schizophrenia. OBJECTIVES: To estimate the serum levels of interleukin-17 (IL-17) and interleukin-10 (IL-10) and their association with disease progression in schizophrenia. METHODS: A total of 67 schizophrenia cases were enrolled in the present study. IL-17 and IL-10 were estimated by enzyme-linked immunosorbent assay. Positive and Negative Syndrome Scale (PANSS) was used to evaluate disease severity. RESULTS: IL-17 was positively correlated with positive symptom score (r = 0.256, p = .036), general psychopathology score (r = 0.255, p = .038) and total score (r = 0.273, p = .025) in schizophrenia. IL-17 and IL-10 were significantly increased in schizophrenia cases with PANSS more than 85 compared to those with 71-85. CONCLUSION: IL-17 and IL-10 are associated with disease severity in schizophrenia but are not good markers for predicting the disease progression.

Autism and Gut-Brain Axis: Role of Probiotics.

Characterized by a wide range of behavioural, social and language problems, autism is a complex developmental disability that affects an individual's capacity to communicate and interact with others. Although the real causes that lead to the development of autism are still unclear, the gastrointestinal tract has been found to play a major role in the development of autism. Alterations in macrobiotic compositions have been reported in autistic children. Irregularities in carbohydrate digestion and absorption could also explain some of the gastrointestinal problems reported in autistic patients, although their role in the neurological and behavioural problems remains uncertain. A relationship between improved gut health and decrease of symptoms in autism has been reported as well. Studies done to evaluate the gluten-free diets, casein-free diets, pre- and probiotic and multivitamin supplementation have shown promising results. Probiotics have been thought to alleviate the progression of autism and reduce cognitive and behavioural deficits.

Gene Expression in Intracranial Aneurysms-Comparison Analysis of Aneurysmal Walls and Extracranial Arteries with Real-Time Polymerase Chain Reaction and Immunohistochemistry.

BACKGROUND: This study was aimed at evaluating the gene expression levels of 4 genes in the intracranial aneurysm wall and comparing them with extracranial arteries. The analysis was done using real-time polymerase chain reaction (RT-PCR) and immunohistochemistry (IHC). Also, a correlation of the differential genetic expression was done with various patient clinical and radiologic factors. METHODS: The quantitative assessment of ribonucleic acid levels was done with RT-PCR and was validated with IHC. The genes studied were collagen 1A2 (COL1A2), tissue inhibitor of metalloproteinase 4 (TIMP4), cathepsin B (CTSB), and alpha-1 antitrypsin (α-1 AT). The analysis was done on 24 aneurysm sacs and superficial temporal/occipital artery samples from patients undergoing surgical clipping. RESULTS: The mean fold change of COL1A2 in the aneurysm sample was 8.89, that of TIMP4 was 10.16, that of CTSB was 1.02, and that of α-1 AT was 1.46 when compared with normal control vessel on PCR. On semiquantitative IHC, COL1A2 was 94.44%, α-1 AT was 77.8% overexpressed, CTSB was positive in 50%, and the expression of TIMP4 was 94.4% underexpressed in aneurysmal walls. There was no statistically significant correlation between patient profile and gene expression. CONCLUSIONS: On RT-PCR and IHC analysis, COL1A2 and α-1 AT were overexpressed, CTSB was marginally overexpressed, and TIMP4 had equivocal expression in the aneurysmal sac when compared with the normal extracranial vessel. This is the first study of its kind in the Indian population with the largest sample size on live human patients.

Role of MEK-ERK signaling mediated adhesion of glioma cells to extra-cellular matrix: Possible implication on migration and proliferation.

BACKGROUND: Glioblastoma represents the most common primary brain tumor with a worst prognosis despite developments in neurosurgery and chemoradiotherapy. Detachment of the cells from the primary tumor tissue is a prerequisite for their dispersion and spreading. Initial and incessant dispersal of tumor cells from the primary tumor tissue renders GBM refractory to comprehensive surgical removal and increases the chance of recurrence and poorer prognosis. PURPOSES: The current study was designed to investigate the effect of inhibition of MEK-ERK1/2 signaling by PD98059 and U0126 on the growth and migration of glioma cells as well as their adhesion to extracellular matrix. METHODS: MEK-ERK1/2 signaling in U87-MG cells was inhibited by PD98059 and U0126. Migration, proliferation and adhesion were analyzed by scratch-wound assay, MTT assay, cell adhesion assay respectively. RESULTS: PD98059 and U0126 significantly not only reduced the proliferation of glioma cells and attenuated their migration but also increased their adhesion to gelatin of extracellular matrix. CONCLUSION: This study provides the evidence that inhibition of MEK-ERK1/2 signaling enhances the adhesion of glioma cells to gelatin/collagen component of ECM, and decreases the proliferation and migration of the glioma cells. We propose the possible rationale of association between ERK signaling and cell-cell adhesion molecules in glioma microenvironment which regulates the glioma initiation, growth and progression.