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BACKGROUND: MRI scoring systems are utilized to quantify brain injury and predict outcome in infants with neonatal encephalopathy (NE). Our aim was to evaluate the predictive accuracy of total scores, white matter (WM) and grey matter (GM) subscores of Barkovich and Weeke scoring systems for neurodevelopmental outcome at 2 years of age in infants receiving therapeutic hypothermia for NE. METHODS: Data of 162 infants were analyzed in this retrospective cohort study. DeLong tests were used to compare areas under the curve of corresponding items of the two scoring systems. LASSO logistic regression was carried out to evaluate the association between MRI scores and adverse composite (death or severe disabilities), motor and cognitive outcomes (Bayley developmental index <70). RESULTS: Weeke scores predicted each outcome measure with greater accuracy than the corresponding items of Barkovich system (DeLong tests p < 0.03). Total scores, GM and cerebellum involvement were associated with increased odds for adverse outcomes, in contrast to WM injury, after adjustment to 5' Apgar score, first postnatal lactate and aEEG normalization within 48 h. CONCLUSION: A more detailed scoring system had better predictive value for adverse outcome. GM injury graded on both scoring systems was an independent predictor of each outcome measure. IMPACT STATEMENTS: A more detailed MRI scoring system had a better predictive value for motor, cognitive and composite outcomes. While hypoxic-ischemic brain injuries in the deep grey matter and cerebellum were predictive of adverse outcome, white matter injury including cortical involvement was not associated with any of the outcome measures at 2 years of age. Structured MRI evaluation based on validated scores may aid future clinical research, as well as inform parents and caregivers to optimize care beyond the neonatal period.
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RNA modifications play a fundamental role in cellular function. Pseudouridylation, the most abundant RNA modification, is catalyzed by the H/ACA small ribonucleoprotein (snoRNP) complex that shares four core proteins, dyskerin (DKC1), NOP10, NHP2, and GAR1. Mutations in DKC1, NOP10, or NHP2 cause dyskeratosis congenita (DC), a disorder characterized by telomere attrition. Here, we report a phenotype comprising nephrotic syndrome, cataracts, sensorineural deafness, enterocolitis, and early lethality in two pedigrees: males with DKC1 p.Glu206Lys and two children with homozygous NOP10 p.Thr16Met. Females with heterozygous DKC1 p.Glu206Lys developed cataracts and sensorineural deafness, but nephrotic syndrome in only one case of skewed X-inactivation. We found telomere attrition in both pedigrees, but no mucocutaneous abnormalities suggestive of DC. Both mutations fall at the dyskerin-NOP10 binding interface in a region distinct from those implicated in DC, impair the dyskerin-NOP10 interaction, and disrupt the catalytic pseudouridylation site. Accordingly, we found reduced pseudouridine levels in the ribosomal RNA (rRNA) of the patients. Zebrafish dkc1 mutants recapitulate the human phenotype and show reduced 18S pseudouridylation, ribosomal dysregulation, and a cell-cycle defect in the absence of telomere attrition. We therefore propose that this human disorder is the consequence of defective snoRNP pseudouridylation and ribosomal dysfunction.
Assuntos
Catarata/genética , Proteínas de Ciclo Celular/genética , Enterocolite/genética , Perda Auditiva Neurossensorial/genética , Síndrome Nefrótica/genética , Proteínas Nucleares/genética , Ribonucleoproteínas Nucleolares Pequenas/genética , Animais , Criança , Feminino , Predisposição Genética para Doença , Humanos , Longevidade , Masculino , Modelos Moleculares , Simulação de Dinâmica Molecular , Mutação , Linhagem , Conformação Proteica , RNA Ribossômico/genética , Peixe-ZebraRESUMO
Background and purpose:
In our collaborative project, called MRI First!, every patient arriving with neurological symptoms of acute stroke and without contraindications was examined by MRI. Our aim was to detect the symptomatic lesions, to obtain appropriate information about the brain parenchyma and to analyse parenchymal perfusion and brain vasculature.
. Methods:The examinations were conducted on a Philips Ingenia 1.5 Tesla scanner with the following protocol: DWI-ADC, FLAIR, T2 FFE/SWI, PWI, and contrast-enhanced MRA. 415 patients were examined between January 2020 and May 2021. 179 patients arrived within-, and 136 patients after 4.5 hours symptoms onset time, while 100 patients had “wake-up” stroke.
. Results:Within the 4.5 hours group, 81 cases had acute ischemic lesion, 48 of them received reperfusion therapy. Acute ischemic lesion was found in 64 patients in the wake-up stroke group and in 64 in the 4.5-24 hours group. In these groups 10 and 12 patients obtained reperfusion therapy, respectively. Further 117 cases were considered as stroke mimics, in which cases unnecessary intravenous thrombolysis was avoidable.
. Conclusion:MRI is accepted as a sensitive diagnostic modality providing detailed information regarding the brain parenchyma, its perfusion and vasculature. Nonetheless, its worldwide utilization in acute stroke is low and further information should be collected on which patient groups would gain the most benefit from acute MR imaging. Our continuous work is aimed at that goal.
.Assuntos
Isquemia Encefálica , Acidente Vascular Cerebral , Humanos , Acidente Vascular Cerebral/diagnóstico por imagem , Acidente Vascular Cerebral/terapia , Imageamento por Ressonância Magnética/métodos , Encéfalo/patologia , Isquemia Encefálica/diagnóstico , Imagem de Difusão por Ressonância MagnéticaRESUMO
BACKGROUND: Prognostic value of proton MR spectroscopy (H-MRS) in hypoxic-ischemic encephalopathy (HIE) is acknowledged; however, effects of gestational age (GA) and postnatal age (PA) on prediction and metabolite levels are unknown. METHODS: One hundred and sixty-nine newborns with moderate-to-severe HIE were studied, having ≥1 H-MRS scan during postnatal days 0-14 and known neurodevelopmental outcome (Bayley-II score/cerebral palsy/death). Initial scans were categorized by PA (day 1-3/4-6/≥7), and metabolite ratios were compared by predictive value. Metabolite dynamics were assessed in a total of 214 scans performed in the study population, using regression modeling, with predictors GA, PA, and outcome. RESULTS: N-acetyl-aspartate (NAA)/creatine (Cr) and myo-inositol (mI)/NAA height ratios were consistently associated with outcome throughout the first 14 days, with the highest predictive value in the late (≥7 days) period (AUC = 0.963 and 0.816, respectively). Neither GA nor PA had an overall effect on these metabolite ratios, which showed strongest association with outcome (p < 0.001). Assessed separately in patients with good outcome, GA became a significant covariate for metabolite ratios (p = 0.0058 and 0.0002, respectively). However, this association disappeared in the poor outcome group. CONCLUSIONS: In HIE, NAA/Cr and mI/NAA give most accurate outcome prediction throughout postnatal days 0-14. GA only affected metabolite levels in the good outcome group. IMPACT: Proton MR spectroscopy metabolite ratios N-acetyl-aspartate/creatine and myo-inositol/N-acetyl-aspartate have persistently high predictive value throughout postnatal days 0-14 in newborns with hypoxic-ischemic encephalopathy, with the highest predictive power between postnatal days 7 and 14. Overall, neither metabolite ratio was affected by gestational age nor by postnatal age, while they showed the strongest association with neurological outcome. However, in newborns facing good outcome, metabolite ratios were associated with gestational age, whereas in cases facing poor outcome, this association disappeared. Proton MR spectroscopy provides valuable prognostic information in neonatal hypoxic-ischemic encephalopathy throughout the first 2 weeks of life, irrespective of the timing of MR scan.
Assuntos
Hipóxia-Isquemia Encefálica , Prótons , Ácido Aspártico , Colina , Creatina/metabolismo , Humanos , Hipóxia-Isquemia Encefálica/diagnóstico por imagem , Hipóxia-Isquemia Encefálica/metabolismo , Recém-Nascido , Inositol , Espectroscopia de Prótons por Ressonância MagnéticaRESUMO
PURPOSE: New guidelines recommend thrombectomy up to 24 h in selected patients; however, the workload and benefit of extending time window are not known. We conducted a prospective single-centre study to determine the caseload, imaging and interventional need of extended time window. METHODS: All consecutive ischemic stroke patients within 24 h from onset in an 11-month period were included. Thrombectomy eligibility in the 0-6 h time window was based on current guidelines; in the 6-24 h time window, it was based on a combination of DEFUSE 3 and DAWN study criteria using MRI to identify target mismatch. Clinical outcome in treated patients was assessed at 3 months. RESULTS: Within 24 h of onset, 437 patients were admitted. In the 0-6 h time window, 238 patients (54.5%) arrived of whom 221 (92.9%) underwent CTA or MRA, 82 (34.5%) had large vessel occlusion (LVO), 30 (12.6%) had thrombectomy and 11 (36.6%) became independent (mRS ≤ 2). In the extended 6-24 h time window, 199 patients (45.5%) arrived of whom 127 (63.8%) underwent CTA or MRA, 44 (22.1%) had LVO, 8 (4%) had thrombectomy and 4 (50%) became independent. CONCLUSION: Extending the time window from 6 to 24 h results in a 26.7% increase in patients receiving thrombectomy and a 36.4% increase of independent clinical outcome in treated patients at the price of a significantly increased burden of clinical and imaging screening due to the similar caseload but a smaller proportion of treatment eligible patients in the extended as compared with the standard time window.
Assuntos
Isquemia Encefálica , Procedimentos Endovasculares , Acidente Vascular Cerebral , Isquemia Encefálica/diagnóstico por imagem , Isquemia Encefálica/cirurgia , Humanos , Estudos Prospectivos , Acidente Vascular Cerebral/diagnóstico por imagem , Acidente Vascular Cerebral/cirurgia , Trombectomia , Resultado do TratamentoRESUMO
BACKGROUND: Perrault syndrome is a genetically heterogenous, very rare disease, characterized clinically by sensorineural hearing loss, ovarian dysfunction and neurological symptoms. We present the case of a 33 years old female patient with TWNK-associated Perrault syndrome. The TWNK gene is coding the mitochondrial protein Twinkle and currently there are only two reports characterizing the phenotype of TWNK-associated Perrault syndrome. None of these publications reported about special brain MRI alterations and neuropathological changes in the muscle and peripheral nerves. CASE PRESENTATION: Our patients with TWNK-dependent Perrault syndrome had severe bilateral hypoacusis, severe ataxia, polyneuropathy, lower limb spastic paraparesis with pyramidal signs, and gonadal dysgenesis. Psychiatric symptoms such as depression and paranoia were present as well. Brain MRI observed progressive cerebellar hyperintensive signs associated with cerebellar, medulla oblongata and cervical spinal cord atrophy. Light microscopy of the muscle biopsy detected severe neurogenic lesions. COX staining was centrally reduced in many muscle fibers. Both muscle and sural nerve electron microscopy detected slightly enlarged mitochondria with abnormal cristae surrounded by lipid vacuoles. In the sural nerve, dystrophic axons had focally uncompacted myelin lamellae present. Genetic investigation revealed multiple mtDNA deletion and compound heterozygous mutations of the TWNK gene (c.1196 A > G, c.1358 G > A). CONCLUSION: This study demonstrates that TWNK associated Perrault syndrome has a much broader phenotype as originally published. The coexistence of severe hypoacusis, spastic limb weakness, ataxia, polyneuropathy, gonadal dysgensia, hyperintense signals in the cerebellum and the presence of the mtDNA multiple deletion could indicate the impairment of the TWNK gene. This is the first report about pyramidal tract involvement and cerebellar MRI alteration associated with TWNK-related Perrault syndrome.
Assuntos
DNA Helicases/genética , Disgenesia Gonadal 46 XX/genética , Perda Auditiva Neurossensorial/genética , Proteínas Mitocondriais/genética , Fenótipo , Adulto , Feminino , Disgenesia Gonadal 46 XX/diagnóstico por imagem , Disgenesia Gonadal 46 XX/patologia , Perda Auditiva Neurossensorial/diagnóstico por imagem , Perda Auditiva Neurossensorial/patologia , Humanos , Imageamento por Ressonância Magnética , MutaçãoRESUMO
BACKGROUND: Identification of early signs of hypoxic ischemic encephalopathy (HIE) with magnetic resonance imaging (MRI) has proven of prognostic significance. Yet, the importance of intracranial hemorrhage (ICH), being present concomitantly had not been investigated yet, despite the known influence of hypothermia on hemostasis. We aimed to determine whether presence of ICH on MRI alongside the signs of HIE have an impact on prognosis in neonates with the clinical diagnosis of HIE. METHODS: A retrospective study of consecutively sampled 108 asphyxiated term infants admitted to a tertiary neonatal intensive care unit (between 2007 and 2016), treated with whole body hypothermia and having brain MRI within 1 week of life was conducted. Presence or absence of HIE signs on MRI (basal ganglia-thalamus, watershed pattern and total brain injury) and on MR spectroscopy (lactate peak with decreased normal metabolites measured by Lac/NAA ratio) and/or of the five major types of ICH were recorded. Neurodevelopmental outcome was measured with Bayley Scales of Infant Development-II (BSID-II) test. Death or abnormal neurodevelopment (BSID-II score < 85) was defined as poor outcome in Chi-square test. Multivariate logistic regression analysis was performed on survivors. RESULTS: MRI and MR-spectroscopy (MRS) signs of HIE were present in 72% (n = 78). 36% (n = 39) of neonates had ICH, being mainly small in size. Chi-square test showed a relationship between neurodevelopmental outcome and initial MRI. Unadjusted logistic regression showed that neonates presenting MRI and MRS signs of HIE have 6.23 times higher odds for delayed mental development (OR = 6.2292; CI95% = [1.2642; 30.6934], p = 0.0246), than infants without imaging alterations; with no ICH effect on outcome. Adjustment for clinical and imaging parameters did not change the pattern of results, i.e. HIE remained an independent risk factor for delayed neurodevelopment (OR = 6.2496; CI95% = [1.2018; 32.4983], p = 0.0294), while ICH remained to have no significant effect. CONCLUSION: HIE related MRI abnormalities proved to be important prognostic factors of poor outcome in cooled asphyxiated infants when present, suggesting that early MRI with MRS is beneficial for prognostication. Interestingly, ICHs present in about one third of all cases had no significant effect on neurodevelopmental outcome, despite the known hemostasis altering effects of hypothermia.
Assuntos
Asfixia Neonatal/terapia , Encéfalo/diagnóstico por imagem , Desenvolvimento Infantil , Hipotermia Induzida , Hipóxia-Isquemia Encefálica/diagnóstico por imagem , Imageamento por Ressonância Magnética , Asfixia Neonatal/complicações , Humanos , Hipóxia-Isquemia Encefálica/complicações , Hipóxia-Isquemia Encefálica/fisiopatologia , Recém-Nascido , Doenças do Recém-Nascido , Hemorragias Intracranianas/complicações , Hemorragias Intracranianas/diagnóstico por imagem , Modelos Logísticos , Espectroscopia de Ressonância Magnética , Transtornos do Neurodesenvolvimento/diagnóstico , Transtornos do Neurodesenvolvimento/etiologia , Prognóstico , Estudos RetrospectivosRESUMO
BACKGROUND: Anatomic variants of the circle of Willis (CW) are commonly observed in healthy subjects. Genetic and environmental factors influencing these variants remain unclear. Our aim was to assess the genetic and environmental background affecting variant CW phenotypes. METHODS: A total of 122 adult healthy twins from the Hungarian Twin Registry (39 monozygotic (MZ) and 22 dizygotic (DZ) pairs, average age 49.7 ± 13.4 years) underwent Time-of-Flight magnetic resonance angiography and transcranial Doppler sonography. We investigated the anterior and posterior CW according to morphological categories. Prevalence and concordance rates of CW variants were calculated. MZ twins discordant for CW variants were analyzed for cardiovascular risk factors and altered blood flow. RESULTS: Complete CW (45.0%) and bilaterally absent posterior communicating artery (PCoA) (22.5%) were the most prevalent variants in the anterior and posterior CW, respectively. There was no significant difference regarding the prevalence of variants across zygosity except for bilaterally hypoplastic PCoA (p = .02). DZ concordance was higher compared to MZ twins regarding morphological categories of the CW. Cardiovascular risk factors were not significantly associated with variant CW in MZ twins discordant to CW morphology. Flow parameters did not differ significantly among MZ twins discordant to CW variants. CONCLUSION: CW variants may not be determined by substantial genetic effects and are not influenced by altered blood flow in healthy individuals. Further investigations are needed to identify potential environmental factors affecting these variants.
Assuntos
Círculo Arterial do Cérebro/anatomia & histologia , Doenças em Gêmeos/genética , Gêmeos Dizigóticos/genética , Gêmeos Monozigóticos/genética , Adulto , Idoso , Doenças Cardiovasculares/diagnóstico por imagem , Doenças Cardiovasculares/genética , Doenças Cardiovasculares/fisiopatologia , Círculo Arterial do Cérebro/diagnóstico por imagem , Círculo Arterial do Cérebro/fisiologia , Feminino , Interação Gene-Ambiente , Humanos , Angiografia por Ressonância Magnética , Masculino , Pessoa de Meia-Idade , Fluxo Sanguíneo Regional/genética , Fatores de Risco , Estudos em Gêmeos como AssuntoRESUMO
BACKGROUND: Neonatal hypoxic-ischemic encephalopathy (HIE) commonly leads to neurodevelopmental impairment, raising the need for prognostic tools which may guide future therapies in time. Prognostic value of proton MR spectroscopy (H-MRS) between 1 and 46 days of age has been extensively studied; however, the reproducibility and generalizability of these methods are controversial in a general clinical setting. Therefore, we investigated the prognostic performance of conventional H-MRS during first 96 postnatal hours in hypothermia-treated asphyxiated neonates. METHODS: Fifty-one consecutive hypothermia-treated HIE neonates were examined by H-MRS at three echo-times (TE = 35, 144, 288 ms) between 6 and 96 h of age, depending on clinical stability. Patients were divided into favorable (n = 35) and unfavorable (n = 16) outcome groups based on psychomotor and mental developmental index (PDI and MDI, Bayley Scales of Infant Development II) scores (≥ 70 versus < 70 or death, respectively), assessed at 18-26 months of age. Associations between 36 routinely measured metabolite ratios and outcome were studied. Age-dependency of metabolite ratios in whole patient population was assessed. Prognostic performance of metabolite ratios was evaluated by Receiver Operating Characteristics (ROC) analysis. RESULTS: Three metabolite ratios showed significant difference between outcome groups after correction for multiple testing (p < 0.0014): myo-inositol (mIns)/N-acetyl-aspartate (NAA) height, mIns/creatine (Cr) height, both at TE = 35 ms, and NAA/Cr height at TE = 144 ms. Assessment of age-dependency showed that all 3 metabolite ratios (mIns/NAA, NAA/Cr and mIns/Cr) stayed constant during first 96 postnatal hours, rendering them optimal for prediction. ROC analysis revealed that mIns/NAA gives better prediction for outcome than NAA/Cr and mIns/Cr with cut-off values 0.6798 0.6274 and 0.7798, respectively, (AUC 0.9084, 0.8396 and 0.8462, respectively, p < 0.00001); mIns/NAA had the highest specificity (95.24%) and sensitivity (84.62%) for predicting outcome of neonates with HIE any time during the first 96 postnatal hours. CONCLUSIONS: Our findings suggest that during first 96 h of age even conventional H-MRS could be a useful prognostic tool in predicting the outcome of asphyxiated neonates; mIns/NAA was found to be the best and age-independent predictor.
Assuntos
Encéfalo/metabolismo , Hipotermia Induzida , Hipóxia-Isquemia Encefálica/terapia , Transtornos do Neurodesenvolvimento/prevenção & controle , Espectroscopia de Prótons por Ressonância Magnética , Ácido Aspártico/análogos & derivados , Ácido Aspártico/metabolismo , Creatina/metabolismo , Epilepsia/etiologia , Feminino , Perda Auditiva/etiologia , Mortalidade Hospitalar , Humanos , Hipóxia-Isquemia Encefálica/metabolismo , Recém-Nascido , Inositol/metabolismo , Masculino , Transtornos do Neurodesenvolvimento/etiologia , Prognóstico , Estudos Retrospectivos , Fatores de TempoRESUMO
BACKGROUND: Although uncommon, cortical hand knob territory stroke is a well-defined stroke entity that mimics peripheral nerve damage. Atherosclerosis and hypertension are the most prevalent risk factors for the disease. Embolic origin, either artery-to-artery or cardioembolic, has been suggested as the most probable underlying mechanism. MATERIALS AND METHODS: Twenty-five patients with isolated hand palsy due to central origin were admitted to our department between 2006 and 2016. Cortical lesions were proven by either computed tomography or magnetic resonance imaging. RESULTS: The average age was 67 ± 12 years. Most of the cases were first-ever strokes (n = 23, 92%). Isolated infarct in the hand knob region was found in 18 of the 25 cases, whereas 7 had multiple acute infarctions. Supra-aortic atherosclerosis was found in 21 patients, 8 of them had 50% or greater ipsilateral stenosis of the internal carotid artery. Hypertension was the second most prevalent risk factor (n = 20, 80%). Quick improvement of symptoms was seen in almost every case (mean follow-up 17.5 months), 9 patients showed complete recovery, whereas 2 remained disabled and 1 died due to a malignant disease. Three patients suffered a recurrent stroke on follow-up. CONCLUSIONS: We conclude that distal arm paresis is a rare presentation of acute stroke with usually benign course.
Assuntos
Isquemia Encefálica , Córtex Motor , Acidente Vascular Cerebral , Idoso , Isquemia Encefálica/diagnóstico por imagem , Isquemia Encefálica/epidemiologia , Isquemia Encefálica/fisiopatologia , Isquemia Encefálica/terapia , Feminino , Seguimentos , Mãos/fisiopatologia , Humanos , Imageamento por Ressonância Magnética , Masculino , Córtex Motor/diagnóstico por imagem , Paresia/epidemiologia , Paresia/etiologia , Paresia/fisiopatologia , Paresia/terapia , Estudos Prospectivos , Fatores de Risco , Acidente Vascular Cerebral/diagnóstico por imagem , Acidente Vascular Cerebral/epidemiologia , Acidente Vascular Cerebral/fisiopatologia , Acidente Vascular Cerebral/terapia , Tomografia Computadorizada por Raios XRESUMO
BACKGROUND AND PURPOSE: We aimed to analyze patient characteristics of term neonates with the diagnosis of stroke between 2006 and 2017 at the 3rd level Neonatal Intensive Care Unit of the Szent János Hospital. METHODS: We conducted a retrospective and prospective analysis including 18 newborns with stroke. Presentation, imaging methods, etiology and clinical context were discussed. All patients had a follow-up at 2 years of age or later. Subject of the study - In the past 10 years 17 term born and one premature neonate born at 36 weeks of age were diagnosed with stroke in our unit. All patients were born at good condition generally with high Apgar scores (9±1). Cesarean section was performed in 4 cases. RESULTS: With an estimated incidence of one in 1600-4000 births, the incidence of perinatal stroke in our unit was found to be the same as mentioned in the international databases. Regarding imaging method, cranial ultrasound scan do not visualise arterial ischaemic stroke therefore head MRI is recommended. Neurological symptoms of the patients presented in the first two days of life. Etiology included thrombophilia (4/18), infection (4/18), vascular malformation (2/18), moderate asphyxia (2/18) and pre-eclampsia (2/18). Middle cerebral artery was involved in 50% while the anterior cerebral artery was affected in 33%. The stroke occured in the left hemisphaerium in 44%, in the right side in 39% and was bilateral in 17%. In two cases the stroke was diagnosed in utero. Early childhood developmental support resulted in average or above average gross and fine motor development and cognitive outcome. CONCLUSION: Presenting neurological symptoms typically occur in the first few days after birth when perinatal stroke need to be considered among the broad spectrum of neonatal illnesses. Normal developmental outcome can be achieved even in cases of extensive brain damage with early childhood developmental support. Severely impaired development was observed in the cases of in utero stroke. Inherited prothrombotic disorders may have implications for subsequent pregnancies of the mother.
Assuntos
Acidente Vascular Cerebral/epidemiologia , Acidente Vascular Cerebral/terapia , Encéfalo/diagnóstico por imagem , Isquemia Encefálica/diagnóstico por imagem , Isquemia Encefálica/epidemiologia , Isquemia Encefálica/fisiopatologia , Isquemia Encefálica/terapia , Desenvolvimento Infantil , Seguimentos , Humanos , Incidência , Recém-Nascido , Estudos Prospectivos , Estudos Retrospectivos , Acidente Vascular Cerebral/diagnóstico por imagem , Acidente Vascular Cerebral/fisiopatologiaRESUMO
BACKGROUND AND PURPOSE: To develop an evidence-based, standardized structured reporting (SR) method for brain MRI examinations in neonatal hypoxic-ischemic encephalopathy (HIE) suitable both for clinical and research use. METHODS: SR template development was based on comprehensive review of the pertinent literature with the basic sections and subdivisions of the template defined according to MRI sequences (both conventional and diffusion-weighted, MR-spectroscopy (MRS), and T2*-weighted imaging), and the items targeted on age-related imaging patterns of HIE. In order to evaluate the usability of the proposed SR template we compared data obtained from the brain MR image analysis of 87 term and 19 preterm neonates with the literature. The enrolled 106 infants were born between 2013 and 2015, went through therapeutic hypothermia according to the TOBY criteria due to moderate to severe asphyxia and had at least one brain MRI examination within the first two weeks of life. Ethical approval was obtained for this retrospective study. Descriptive statistical analysis was also performed on data exported from the structured reporting system as feasibility test. RESULTS: The mean gestational age of the study population was 38.3±2.2 weeks; brain MRI was performed on 5.8±2.9 day of life, hence in 78% of our patients after the conclusion of therapeutic hypothermia. Our main imaging findings were concordant to the pertinent literature. Moreover, we identified a characteristic temporal evolution of diffusion changes. Interestingly 18% (n=19/106) of the clinically asphyxiated infants had isolated axial-extraaxial haemorrhage without any imaging sign of HIE. CONCLUSION: In this article our approach of reporting HIE cases with our novel SR template is described. The SR template was found suitable for reporting HIE cases, moreover it uncovered time and location dependent evolution of diffusion abnormalities (and pseudonormalization, as well), suggesting its usefulness in clinical research applications. The high number of isolated intracranial haemorrhages, and the changing diffusion pattern emphasizes the importance of early imaging in HIE.
Assuntos
Encéfalo/patologia , Hipotermia Induzida , Hipóxia-Isquemia Encefálica/diagnóstico por imagem , Imageamento por Ressonância Magnética/métodos , Triagem Neonatal/métodos , Humanos , Lactente , Recém-Nascido , Estudos RetrospectivosRESUMO
BACKGROUND: Schizophrenia has a negative effect on the activity of the temporal and prefrontal cortices in the processing of emotional facial expressions. However no previous research focused on the evaluation of mixed emotions in schizophrenia, albeit they are frequently expressed in everyday situations and negative emotions are frequently expressed by mixed facial expressions. METHODS: Altogether 37 subjects, 19 patients with schizophrenia and 18 healthy control subjects were enrolled in the study. The two study groups did not differ in age and education. The stimulus set consisted of 10 fearful (100%), 10 happy (100%), 10 mixed fear (70% fear and 30% happy) and 10 mixed happy facial expressions. During the fMRI acquisition pictures were presented in a randomized order and subjects had to categorize expressions by button press. RESULTS: A decreased activation was found in the patient group during fear, mixed fear and mixed happy processing in the right ventrolateral prefrontal cortex (VLPFC) and the right anterior insula (RAI) at voxel and cluster level after familywise error correction. No difference was found between study groups in activations to happy facial condition. Patients with schizophrenia did not show a differential activation between mixed happy and happy facial expression similar to controls in the right dorsolateral prefrontal cortex (DLPFC). CONCLUSIONS: Patients with schizophrenia showed decreased functioning in right prefrontal regions responsible for salience signaling and valence evaluation during emotion recognition. Our results indicate that fear and mixed happy/fear processing are impaired in schizophrenia, while happy facial expression processing is relatively intact.
Assuntos
Emoções/fisiologia , Córtex Pré-Frontal/fisiopatologia , Esquizofrenia/fisiopatologia , Adulto , Mapeamento Encefálico , Estudos de Casos e Controles , Dominância Cerebral/fisiologia , Expressão Facial , Feminino , Humanos , Imageamento por Ressonância Magnética , Masculino , Estimulação Luminosa , Tempo de Reação , Reconhecimento Psicológico , Psicologia do EsquizofrênicoRESUMO
Primary myelofibrosis has the worst outcome among classical chronic myeloproliferative neoplasms. The past decade has brought numerous discoveries elucidating the role of proliferative mutations in disease pathogenesis. Mutations of the genes JAK2, MPL and CALR are present in about 90 percent of all primary myelofibrosis cases. The prognosis of myelofibrosis is considered heterogeneous, the expected survival of patients may range from one year to more than a decade based on several prognostic factors. Estimated survival can be assessed based on clinical prognostic scores. The aim of treatment is to reduce mortality and to alleviate the main aspects of disease-associated morbidity, e.g. anemia, splenomegalia and systemic symptoms. The effect of conventionally used cytoreductive agent hydroxyurea is usually transient. Use of allogeneic hematopoietic stem cell transplantation is limited by significant procedure-associated mortality. JAK2 tyrosine kinase inhibitors are the first treatment modality with evidence of improved overall survival, however, even these molecularly targeted therapies have failed to bring complete and permanent remission for the majority of myelofibrosis patients. Further improvement in overall survival for myelofibrosis can be expected from better understanding of the underlying molecular pathology and novel molecular therapeutic targets.
Assuntos
Terapia de Alvo Molecular , Mielofibrose Primária/tratamento farmacológico , Humanos , Mutação , Mielofibrose Primária/genética , Mielofibrose Primária/patologia , PrognósticoRESUMO
We report the palliative embolization and functional imaging follow-up of a recurrent shoulder plasmacytoma. The multiple myeloma patient complained of severe pain and discomfort, while he could not tolerate further chemotherapy. The left shoulder lesion had earlier received a high dose of irradiation. Thus, the well-vascularized lesion was embolized via feeding arteries branching off from the left subclavian artery in two sessions. The patient's symptoms rapidly improved post-embolization and the serum free light chain ratio stabilized at a lower level. The follow-up magnetic resonance image showed increased diffusivity in previously restricted tumor foci. This has negatively correlated with the decreased fludeoxyglucose uptake on PET, suggesting post-embolization necrosis.
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Imagem de Difusão por Ressonância Magnética/métodos , Embolização Terapêutica , Recidiva Local de Neoplasia/diagnóstico , Plasmocitoma/patologia , Plasmocitoma/terapia , Ombro/patologia , Fluordesoxiglucose F18 , Humanos , Imageamento por Ressonância Magnética , Masculino , Pessoa de Meia-Idade , Recidiva Local de Neoplasia/tratamento farmacológico , Compostos Radiofarmacêuticos , Resultado do Tratamento , Carga TumoralRESUMO
INTRODUCTION: The corpus callosum is one of the five main cerebral commissures. It is key to combining sensory and motor functions. Its structure can be pathological (dysgenesis) or completely absent (agenesis). The corpus callosum dys- or agenesis is a rare disease (1:4000 live births), but it can have serious mental effects. METHODS: In our study, we processed the data of 64 pregnant women. They attended a prenatal diagnostic center and genetic counseling from 2005 to 2019 at the Department of Obstetrics and Gynecology at Semmelweis University. RESULTS: The pregnancies had the following outcomes: 52 ended in delivery, 1 in spontaneous abortion, and 11 in termination of pregnancy (TOP) cases (n = 64). The average time of detection with imaging tests was 25.24 gestational weeks. In 16 cases, prenatal magnetic resonance imaging (MRI) was performed. If the abnormality was detected before the 20th week, a genetic test was performed on an amniotic fluid sample obtained from a genetic amniocentesis. Karyotyping and cytogenetic tests were performed in 15 of the investigated cases. Karyotyping gave normal results in three cases (46,XX or XY). In one of these cases, postnatally chromosomal microarray (CMA) was later performed, which confirmed Aicardi syndrome (3q21.3-21.1 microdeletion). In one case, postnatally, the test found Wiedemann-Rautenstrauch syndrome. In other cases, it found X ring, Di George syndrome, 46,XY,del(13q)(q13q22) and 46,XX,del(5p)(p13) (Cri-du-chat syndrome). Edwards syndrome was diagnosed in six cases, and Patau syndrome in one case. CONCLUSIONS: We found that corpus callosum abnormalities are often linked to chromosomal problems. We recommend that a cytogenetic test be performed in all cases to rule out inherited diseases. Also, the long-term outcome does not just depend on the disease's severity and the associated other conditions, and hence proper follow-up and early development are also key. For this reason, close teamwork between neonatology, developmental neurology, and pediatric surgery is vital.
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Distal arthrogryposis (DA) is a skeletal muscle disorder that is characterized by the presence of joint contractures in various parts of the body, particularly in the distal extremities. In this study, after a systematic review of the literature, we present a case report of a non-consanguineous family. In our case, the first-trimester ultrasound was negative, and the presence of the affected mother was not enough for the parents to consent to us performing invasive amniotic fluid sampling. The second-trimester ultrasound showed clear abnormalities suggestive of arthrogryposis. Whole-exome sequencing was performed and an autosomal dominantly inherited disease-associated gene was identified. In our case, a pathogenic variant in the TNNT3 gene c.188G>A, p.Arg63His variant was identified. The mother, who had bilateral clubfoot and hand involvement in childhood, carried the same variant. The TNNT3 gene is associated with distal arthrogryposis type 2B2, which is characterized by congenital contractures of the distal limb joints and facial dysmorphism. In the ultrasound, prominent clubfoot was identified, and the mother, who also carried the same mutation, had undergone surgeries to correct the clubfoot, but facial dysmorphism was not detected. Our study highlights the importance of proper genetic counseling, especially in an affected parent(s), and close follow-up during pregnancy.
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According to predictive coding models of sensory processing, stimulus expectations have a profound effect on sensory cortical responses. This was supported by experimental results, showing that fMRI repetition suppression (fMRI RS) for face stimuli is strongly modulated by the probability of stimulus repetitions throughout the visual cortical processing hierarchy. To test whether processing of voices is also affected by stimulus expectations, here we investigated the effect of repetition probability on fMRI RS in voice-selective cortical areas. Changing ('alt') and identical ('rep') voice stimulus pairs were presented to the listeners in blocks, with a varying probability of alt and rep trials across blocks. We found auditory fMRI RS in the nonprimary voice-selective cortical regions, including the bilateral posterior STS, the right anterior STG and the right IFC, as well as in the IPL. Importantly, fMRI RS effects in all of these areas were strongly modulated by the probability of stimulus repetition: auditory fMRI RS was reduced or not present in blocks with low repetition probability. Our results revealed that auditory fMRI RS in higher-level voice-selective cortical regions is modulated by repetition probabilities and thus suggest that in audition, similarly to the visual modality, processing of sensory information is shaped by stimulus expectation processes.
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Percepção Auditiva/fisiologia , Mapeamento Encefálico , Encéfalo/fisiologia , Estimulação Acústica , Adulto , Feminino , Humanos , Interpretação de Imagem Assistida por Computador , Imageamento por Ressonância Magnética , Masculino , Voz/fisiologia , Adulto JovemRESUMO
Diffusion weighted magnetic resonance imaging is increasingly being used for neonatal and young pediatric subjects. Our purpose was to investigate a) whether cardiac triggering was needed to reduce variability of diffusion (tensor) imaging data, b) how pulsation artifacts affect the fitted diffusion tensor when triggering is not used and c) the feasibility of triggered data acquisition in neonates and young children. Data were collected from 11 infants and 7 adults. In seven infants and seven adults, diffusion encoding was applied solely along the z gradient direction with and without cardiac triggering. Non-parametric bootstrap statistical methods were applied to investigate the dependence of variance on triggering. One infant and all adults served as test-retest controls. From the remaining three infants diffusion tensor imaging data were acquired with and without triggering. Our findings that used the repeated measurements in a single diffusion-encoding direction indicated that without triggering the variability in the data was increased significantly both in infants and adults. When collecting diffusion tensor data in infants, this increased variability results in erroneous fractional anisotropy values and artifactual fiber direction estimates. Contrary to previous reports but supported by our findings involving adults, pulsation artifacts were present in a larger extent of the brain in the infant population. In conclusion, triggering is feasible in young subjects and is preferred when acquiring diffusion MRI data. In doing so, the amount of erroneous estimations due to image artifacts will be minimized, which in turn will lead to more specific and less ambiguous interpretations. Although fitting the pulse-monitoring device requires additional set-up time, the total imaging time is usually shorter than acquiring multiple data sets to compile a single, artifact-free set.
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Artefatos , Mapeamento Encefálico/métodos , Imagem de Difusão por Ressonância Magnética/métodos , Adulto , Anisotropia , Feminino , Frequência Cardíaca/fisiologia , Humanos , Interpretação de Imagem Assistida por Computador , Lactente , Recém-Nascido , Masculino , Pulso Arterial , Adulto JovemRESUMO
Authors, most of them Japanese, have recently published an increasing number of articles on mild encephalitis/encephalopathy with a reversible splenial lesion. We report on two new white European patients and compare published data with our own observations. A 15-year-old girl developed headache, fever, dizziness, vomiting and nuchal rigidity over four days. CSF showed elevated protein and cell count, with the lowest serum Na being 131 mmol/L. MRI on day seven was normal, but she remained febrile, had cerebral edema and episodes of confusion. MRI on day 11 showed a small T2-hyperintense lesion with restricted diffusion in the callosal splenium. Adenoviral infection was proved, and the girl underwent a protracted course of recovery. MRI signal changes improved in six days and disappeared after four months. A 12.5-year-old girl developed headache, lethargy, drowsiness and vomiting. On day five she experienced right-sided numbness, weakness and inability to speak which lasted 12 hours. She was confused and disoriented. MRI disclosed a tiny area of increased T2-signal and restricted diffusion in the splenium. Serum Na was 133 mmol/L, CSF cell count and protein was markedly elevated, and enteroviral infection was detected. Echocardiography showed no changes predisposing to clot formation and no thrombophilia was found. Her symptoms resolved in a week and MRI was normal two months later. These two non-epileptic children increase the small number of white European patients with MERS reported so far. Both had hyponatremia and encephalitis and patient 2 had transient ischemic attack, possibly due to the cerebral edema also resulting in the splenial lesion.