scholarly journals CARD8 and IL1B Polymorphisms Influence MRI Brain Patterns in Newborns with Hypoxic-Ischemic Encephalopathy Treated with Hypothermia

Antioxidants ◽  
2021 ◽  
Vol 10 (1) ◽  
pp. 96
Author(s):  
Katarina Esih ◽  
Katja Goričar ◽  
Zvonka Rener-Primec ◽  
Vita Dolžan ◽  
Aneta Soltirovska-Šalamon
Keyword(s):  
Oxidative Stress ◽  
Brain Injury ◽  
Genetic Variability ◽  
Internal Capsule ◽  
Nucleotide Polymorphisms ◽  
Mri Findings ◽  
Posterior Limb ◽  
Buccal Swabs ◽  
Magnetic Resonance Imaging Mri ◽  
The Impact

Inflammation and oxidative stress are recognized as important contributors of brain injury in newborns due to a perinatal hypoxic-ischemic (HI) insult. Genetic variability in these pathways could influence the response to HI and the outcome of brain injury. The aim of our study was to evaluate the impact of common single-nucleotide polymorphisms in the genes involved in inflammation and response to oxidative stress on brain injury in newborns after perinatal HI insult based on the severity and pattern of magnetic resonance imaging (MRI) findings. The DNA of 44 subjects was isolated from buccal swabs. Genotyping was performed for NLRP3 rs35829419, CARD8 rs2043211, IL1B rs16944, IL1B rs1143623, IL1B rs1071676, TNF rs1800629, CAT rs1001179, SOD2 rs4880, and GPX1 rs1050450. Polymorphism in CARD8 was found to be protective against HI brain injury detected by MRI overall findings. Polymorphisms in IL1B were associated with posterior limb of internal capsule, basal ganglia, and white matter brain patterns determined by MRI. Our results suggest a possible association between genetic variability in inflammation- and antioxidant-related pathways and the severity of brain injury after HI insult in newborns.

scholarly journals Association of Genetic Polymorphisms in Oxidative Stress and Inflammation Pathways with Glaucoma Risk and Phenotype

2021 ◽  
Vol 10 (5) ◽  
pp. 1148
Author(s):  
Makedonka Atanasovska Velkovska ◽  
Katja Goričar ◽  
Tanja Blagus ◽  
Vita Dolžan ◽  
Barbara Cvenkel
Keyword(s):  
Oxidative Stress ◽  
Ocular Hypertension ◽  
Gene Deletion ◽  
Open Angle Glaucoma ◽  
Protective Role ◽  
Control Group ◽  
Nucleotide Polymorphisms ◽  
Gstm1 Gene ◽  
Stress Genes ◽  
The Impact

Oxidative stress and neuroinflammation are involved in the pathogenesis and progression of glaucoma. Our aim was to evaluate the impact of selected single-nucleotide polymorphisms in inflammation and oxidative stress genes on the risk of glaucoma, the patients’ clinical characteristics and the glaucoma phenotype. In total, 307 patients with primary open-angle glaucoma or ocular hypertension were enrolled. The control group included 339 healthy Slovenian blood donors. DNA was isolated from peripheral blood. Genotyping was performed for SOD2 rs4880, CAT rs1001179, GPX1 rs1050450, GSTP1 rs1695, GSTM1 gene deletion, GSTT1 gene deletion, IL1B rs1143623, IL1B rs16944, IL6 rs1800795 and TNF rs1800629. We found a nominally significant association of GSTM1 gene deletion with decreased risk of ocular hypertension and a protective role of IL1B rs16944 and IL6 rs1800629 in the risk of glaucoma. The CT and TT genotypes of GPX1 rs1050450 were significantly associated with advanced disease, lower intraocular pressure and a larger vertical cup–disc ratio. In conclusion, genetic variability in IL1B and IL6 may be associated with glaucoma risk, while GPX and TNF may be associated with the glaucoma phenotype. In the future, improved knowledge of these pathways has the potential for new strategies and personalised treatment of glaucoma.

scholarly journals The Influence of Oxidative Stress on Neurological Outcomes in Spontaneous Intracerebral Hemorrhage

Biomolecules ◽  
2021 ◽  
Vol 11 (11) ◽  
pp. 1615
Author(s):  
Julia Masomi-Bornwasser ◽  
Elena Kurz ◽  
Christina Frenz ◽  
Jan Schmitt ◽  
Dominik M. A. Wesp ◽  
...  
Keyword(s):  
Oxidative Stress ◽  
Brain Injury ◽  
Intracerebral Hemorrhage ◽  
Total Antioxidant Status ◽  
Secondary Brain Injury ◽  
Spontaneous Intracerebral Hemorrhage ◽  
Neurological Outcomes ◽  
Total Antioxidant ◽  
Patient’S Outcome ◽  
The Impact

Spontaneous intracerebral hemorrhage (ICH) causes, besides the primary brain injury, a secondary brain injury (SBI), which is induced, amongst other things, by oxidative stress (OS) and inflammation, determining the patient’s outcome. This study aims to assess the impact of OS in plasma and cerebrospinal fluid (CSF) on clinical outcomes in patients with ICH. A total of 19 ICH (volume > 30 cc) patients and 29 control patients were included. From day one until seven, blood and CSF samples were obtained, and ICH volume was calculated. OS markers, like malondialdehyde (MDA), superoxide dismutase (SOD), glutathione peroxidase (GSH-Px), glutathione-sulfhydryl (GSH), and the total antioxidant status (TAS) were measured. Clinical data on treatment and outcome were determined. Patients with mRS ≤ 4 showed significantly elevated SOD and GSH-Px levels in plasma compared to patients with poor CO (p = 0.004; p = 0.002). Initial increased TAS in plasma and increased MDA in CSF were linked to an unfavorable outcome after six months (p = 0.06, r = 0.45; p = 0.05, r = 0.44). A higher ICH volume was associated with a worse outcome at week six (p = 0.04, r = 0.47). OS plays a significant role in SBI. Larger ICHs, elevated MDA in CSF, and TAS in plasma were associated with a detrimental outcome, whereas higher plasma-SOD and -GSH-Px were associated with a favorable outcome.

scholarly journals The Impact of Genetic Variability of CYP1A2, ADORA2A, and AHR on Caffeine Consumption and Response among Adult New Zealanders

Proceedings ◽  
2019 ◽  
Vol 37 (1) ◽  
pp. 30
Author(s):  
Tennent ◽  
Rutherfurd-Markwick ◽  
Ali ◽  
Wham
Keyword(s):  
Cytochrome P450 ◽  
Genetic Variability ◽  
Single Nucleotide Polymorphisms ◽  
Nucleotide Polymorphisms ◽  
Caffeine Consumption ◽  
Cytochrome P450 1A2 ◽  
Single Nucleotide ◽  
The Impact ◽  
New Zealanders

Three single nucleotide polymorphisms (SNPs) have known links to caffeine consumption,metabolism, and post-consumption effects and responses: cytochrome P450 1A2 (CYP1A2; rs762551) [...]

The role of MRI-based texture analysis to predict the severity of brain injury in neonates with perinatal asphyxia

2021 ◽  
Author(s):  
Fatma Ceren Sarioglu ◽  
Orkun Sarioglu ◽  
Handan Guleryuz ◽  
Burak Deliloglu ◽  
Funda Tuzun ◽  
...  
Keyword(s):  
Basal Ganglia ◽  
Texture Analysis ◽  
Diagnostic Yield ◽  
Perinatal Asphyxia ◽  
Characteristic Curve ◽  
Internal Capsule ◽  
Texture Features ◽  
Posterior Limb ◽  
Apparent Diffusion ◽  
Magnetic Resonance Imaging Mri

Objectives: To evaluate the efficacy of the magnetic resonance imaging (MRI)-based texture analysis (TA) of the basal ganglia and thalami to distinguish moderate-to-severe hypoxic-ischemic encephalopathy (HIE) from mild HIE in neonates. Methods: This study included 68 neonates (15 with mild, 20 with moderate-to-severe HIE, and 33 control) were born at 37 gestational weeks or later and underwent MRI in first 10 days after birth. The basal ganglia and thalami were delineated for TA on the apparent diffusion coefficient (ADC) maps, T1-, and T2-weighted images. The basal ganglia, thalami, and the posterior limb of the internal capsule (PLIC) were also evaluated visually on diffusion-weighted imaging and T1-weighted sequence. Receiver operating characteristic curve and logistic regression analyses were used. Results: Totally 56 texture features for the basal ganglia and 46 features for the thalami were significantly different between the HIE groups on the ADC maps, T1-, and T2-weighted sequences. Using a Histogram_entropy log-10 value as >1.8 from the basal ganglia on the ADC maps (p < 0.001; OR, 266) and the absence of hyperintensity of the PLIC on T1-weighted images (p = 0.012; OR, 17.11) were found as independent predictors for moderate-to-severe HIE. Using only a Histogram_entropy log-10 value had an equal diagnostic yield when compared to its combination with other texture features and imaging findings. Conclusion: The Histogram_entropy log-10 value can be used as an indicator to differentiate from moderate-to-severe to mild HIE. Advances in knowledge: MRI-based TA may provide quantitative findings to indicate different stages in neonates with perinatal asphyxia.

scholarly journals The Role of Blood Biomarkers for Magnetic Resonance Imaging Diagnosis of Traumatic Brain Injury

Medicina ◽  
2020 ◽  
Vol 56 (2) ◽  
pp. 87 ◽  
Author(s):  
John K. Yue ◽  
Pavan S. Upadhyayula ◽  
Lauro N. Avalos ◽  
Hansen Deng ◽  
Kevin K. W. Wang
Keyword(s):  
Magnetic Resonance Imaging ◽  
Traumatic Brain Injury ◽  
Brain Injury ◽  
Magnetic Resonance ◽  
Functional Connectivity ◽  
Alpha Synuclein ◽  
Resonance Imaging ◽  
Mri Findings ◽  
Pubmed Database ◽  
Magnetic Resonance Imaging Mri

Background and Objectives: The annual global incidence of traumatic brain injury (TBI) is over 10 million. An estimated 29% of TBI patients with negative computed tomography (CT−) have positive magnetic resonance imaging (MRI+) findings. Judicious use of serum biomarkers with MRI may aid in diagnosis of CT-occult TBI. The current manuscript aimed to evaluate the diagnostic, therapeutic and risk-stratification utility of known biomarkers and intracranial MRI pathology. Materials and Methods: The PubMed database was queried with keywords (plasma OR serum) AND (biomarker OR marker OR protein) AND (brain injury/trauma OR head injury/trauma OR concussion) AND (magnetic resonance imaging/MRI) (title/abstract) in English. Seventeen articles on TBI biomarkers and MRI were included: S100 calcium-binding protein B (S100B; N = 6), glial fibrillary acidic protein (GFAP; N = 3), GFAP/ubiquitin carboxyl-terminal hydrolase-L1 (UCH-L1; N = 2), Tau (N = 2), neurofilament-light (NF-L; N = 2), alpha-synuclein (N = 1), and alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid receptor peptide (AMPAR; N = 1). Results: Acute GFAP distinguished CT−/MRI+ from CT−/MRI− (AUC = 0.777, 0.852 at 9–16 h). GFAP discriminated CT−/diffuse axonal injury (DAI+) from controls (AUC = 0.903). Tau correlated directly with number of head strikes and inversely with white matter fractional anisotropy (FA), and a cutoff > 1.5 pg/mL discriminated between DAI+ and DAI− (sensitivity = 74%/specificity = 69%). NF-L had 100% discrimination of DAI in severe TBI and correlated with FA. Low alpha-synuclein was associated with poorer functional connectivity. AMPAR cutoff > 0.4 ng/mL had a sensitivity of 91% and a specificity of 92% for concussion and was associated with minor MRI findings. Low/undetectable S100B had a high negative predictive value for CT/MRI pathology. UCH-L1 showed no notable correlations with MRI. Conclusions: An acute circulating biomarker capable of discriminating intracranial MRI abnormalities is critical to establishing diagnosis for CT-occult TBI and can triage patients who may benefit from outpatient MRI, surveillance and/or follow up with TBI specialists. GFAP has shown diagnostic potential for MRI findings such as DAI and awaits further validation. Tau shows promise in detecting DAI and disrupted functional connectivity. Candidate biomarkers should be evaluated within the context of analytical performance of the assays used, as well as the post-injury timeframe for blood collection relative to MRI abnormalities.

scholarly journals Hallervorden-Spatz Syndrome: Case Report of a Typical Form

2021 ◽  
Vol 3 (1) ◽  
pp. 025-026
Author(s):  
Leandro de Holanda da Rocha ◽  
Milena Nunes Alves de Sousa ◽  
Paulo Roberto Veiga Quemelo ◽  
Paulo Antônio Farias Lucena
Keyword(s):  
Neurodegenerative Disease ◽  
Motor Development ◽  
Brain Magnetic Resonance Imaging ◽  
Internal Capsule ◽  
Iron Accumulation ◽  
Resonance Imaging ◽  
Posterior Limb ◽  
Progressive Development ◽  
History Of ◽  
Magnetic Resonance Imaging Mri

Hallervorden-Spatz syndrome is a rare neurodegenerative disease, related to mutations in a gene located on chromosome 20p13. Hallervorden-Spatz syndrome is characterized by iron accumulation in the basal ganglia, which leads to variable neurologic manifestations. It is reported the case of a 6 years old male patient, with history of neuro psycho motor development involution noticed since 1 year and 5 months of age and progressive development of dystonia, mostly on upper limbs and neck. Brain Magnetic Resonance Imaging (MRI) revealed bilaterally symmetric signal changes in globus pallidus and in the posterior limb of the internal capsule, findings that suggest neurodegenerative disease with iron accumulation or metabolic disease.

Hypotension and Brain Injury in Asphyxiated Newborns Treated with Hypothermia

2017 ◽  
Vol 35 (01) ◽  
pp. 031-038 ◽  
Author(s):  
Asim Al Balushi ◽  
Stephanie Barbosa Vargas ◽  
Julie Maluorni ◽  
Priscille-Nice Sanon ◽  
Emmanouil Rampakakis ◽  
...  
Keyword(s):  
Brain Injury ◽  
Brain Magnetic Resonance Imaging ◽  
Severe Brain Injury ◽  
Resonance Imaging ◽  
Increased Risk ◽  
Blood Pressures ◽  
Magnetic Resonance Imaging Mri ◽  
Lactate Levels ◽  
The Impact ◽  
The Brain

Objective This study aimed to assess the incidence of hypotension in asphyxiated newborns treated with hypothermia, the variability in treatments for hypotension, and the impact of hypotension on the pattern of brain injury. Study Design We conducted a retrospective cohort study of asphyxiated newborns treated with hypothermia. Mean blood pressures, lactate levels, and inotropic support medications were recorded during the hospitalization. Presence and severity of brain injury were scored using the brain magnetic resonance imaging (MRI) obtained after the hypothermia treatment was completed. Results One hundred and ninety term asphyxiated newborns were treated with hypothermia. Eighty-one percent developed hypotension. Fifty-five percent of the newborns in the hypotensive group developed brain injury compared with 35% of the newborns in the normotensive group (p = 0.04). Twenty-nine percent of the newborns in the hypotensive group developed severe brain injury, compared with only 15% in the normotensive group. Nineteen percent of the newborns presenting with volume- and/or catecholamine-resistant hypotension had near-total injury, compared with 6% in the normotensive group and 8% in the group responding to volume and/or catecholamines. Conclusion Hypotension was common in asphyxiated newborns treated with hypothermia and was associated with an increased risk of (severe) brain injury in these newborns.

Adult-onset Krabbe disease with homozygous T1853C mutation in the galactocerebrosidase gene

Neurology ◽  
1997 ◽  
Vol 49 (5) ◽  
pp. 1392-1399 ◽  
Author(s):  
J.-I. Satoh ◽  
H. Tokumoto ◽  
K. Kurohara ◽  
M. Yukitake ◽  
M. Matsui ◽  
...  
Keyword(s):  
White Matter ◽  
Late Onset ◽  
Spastic Paraparesis ◽  
Internal Capsule ◽  
Krabbe Disease ◽  
High Signal ◽  
Periventricular White Matter ◽  
Mri Findings ◽  
Posterior Limb ◽  
Intellectual Capacity

A 51-year-old woman developed a slowly progressive spastic paraparesis and diminished vibration sense beginning at age 38. Intellectual capacity was normal. Krabbe disease was confirmed by markedly reduced leukocyte galactocerebrosidase (GALC) activity, typical inclusions in Schwann cell cytoplasm, and an identification of the homozygous point mutation T1835C(Leu618Ser) in the GALC gene. T2-weighted MRI of the brain showed symmetric high-signal-intensity lesions in the bilateral frontoparietal white matter, the centrum semiovale, and the posterior limb of the internal capsule with sparing of the periventricular white matter. This case is unusual because of the late onset, protracted clinical course, and MRI findings of demyelination confined to the corticospinal tracts.

scholarly journals Assessment of myelination in infants and young children by T1 relaxation time measurements using the magnetization-prepared 2 rapid acquisition gradient echoes sequence

2021 ◽  
Author(s):  
Fabienne Kühne ◽  
Wolf-Julian Neumann ◽  
Philip Hofmann ◽  
José Marques ◽  
Angela M. Kaindl ◽  
...  
Keyword(s):  
Young Children ◽  
Corpus Callosum ◽  
Grey Matter ◽  
Internal Capsule ◽  
Mapping Method ◽  
Qualitative Assessment ◽  
Mri Findings ◽  
Posterior Limb ◽  
Rapid Acquisition ◽  
Infants And Young Children

Abstract Background Axonal myelination is an important maturation process in the developing brain. Increasing myelin content correlates with the longitudinal relaxation rate (R1=1/T1) in magnetic resonance imaging (MRI). Objective By using magnetization-prepared 2 rapid acquisition gradient echoes (MP2RAGE) on a 3-T MRI system, we provide R1 values and myelination rates for infants and young children. Materials and methods Average R1 values in white and grey matter regions in 94 children without pathological MRI findings (age range: 3 months to 6 years) were measured and fitted by a saturating-exponential growth model. For comparison, R1 values of 36 children with different brain pathologies are presented. The findings were related to a qualitative evaluation using T2, magnetization-prepared rapid acquisition gradient echo (MP-RAGE) and MP2RAGE. Results R1 changes rapidly in the first 16 months of life, then much slower thereafter. R1 is highest in pre-myelinated structures in the youngest subjects, such as the posterior limb of the internal capsule (0.74–0.76±0.04 s−1) and lowest for the corpus callosum (0.37–0.44±0.03 s−1). The myelination rate is fastest in the corpus callosum and slowest in the deep grey matter. R1 is decreased in hypo- and dysmyelination disorders. Myelin maturation is clearly visible on MP2RAGE, especially in the first year of life. Conclusion MP2RAGE permits a quantitative R1 mapping method with an examination time of approximately 6 min. The age-dependent R1 values for children without MRI-identified brain pathologies are well described by a saturating-exponential function with time constants depending on the investigated brain region. This model can serve as a reference for this age group and to search for indications of subtle pathologies. Moreover, the MP2RAGE sequence can also be used for the qualitative assessment of myelinated structures.

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