Brain Imaging Findings Research Articles

Analysis of Default Mode Network in Social Anxiety Disorder: EEG Resting-State Effective Connectivity Study.

Recent brain imaging findings by using different methods (e.g., fMRI and PET) have suggested that social anxiety disorder (SAD) is correlated with alterations in regional or network-level brain function. However, due to many limitations associated with these methods, such as poor temporal resolution and limited number of samples per second, neuroscientists could not quantify the fast dynamic connectivity of causal information networks in SAD. In this study, SAD-related changes in brain connections within the default mode network (DMN) were investigated using eight electroencephalographic (EEG) regions of interest. Partial directed coherence (PDC) was used to assess the causal influences of DMN regions on each other and indicate the changes in the DMN effective network related to SAD severity. The DMN is a large-scale brain network basically composed of the mesial prefrontal cortex (mPFC), posterior cingulate cortex (PCC)/precuneus, and lateral parietal cortex (LPC). The EEG data were collected from 88 subjects (22 control, 22 mild, 22 moderate, 22 severe) and used to estimate the effective connectivity between DMN regions at different frequency bands: delta (1–3 Hz), theta (4–8 Hz), alpha (8–12 Hz), low beta (13–21 Hz), and high beta (22–30 Hz). Among the healthy control (HC) and the three considered levels of severity of SAD, the results indicated a higher level of causal interactions for the mild and moderate SAD groups than for the severe and HC groups. Between the control and the severe SAD groups, the results indicated a higher level of causal connections for the control throughout all the DMN regions. We found significant increases in the mean PDC in the delta (p = 0.009) and alpha (p = 0.001) bands between the SAD groups. Among the DMN regions, the precuneus exhibited a higher level of causal influence than other regions. Therefore, it was suggested to be a major source hub that contributes to the mental exploration and emotional content of SAD. In contrast to the severe group, HC exhibited higher resting-state connectivity at the mPFC, providing evidence for mPFC dysfunction in the severe SAD group. Furthermore, the total Social Interaction Anxiety Scale (SIAS) was positively correlated with the mean values of the PDC of the severe SAD group, r (22) = 0.576, p = 0.006 and negatively correlated with those of the HC group, r (22) = −0.689, p = 0.001. The reported results may facilitate greater comprehension of the underlying potential SAD neural biomarkers and can be used to characterize possible targets for further medication.

A unique case of progressive hemifacial microsomia or Parry-Romberg syndrome associated with limb and brain anomalies with normal neurological findings: A review of the literature

In this report, we describe an unusual case of progressive hemifacial atrophy or Parry-Romberg syndrome in a 10-year-old girl with progressive hemifacial microsomia and limb anomalies who had brain magnetic resonance imaging (MRI) findings of white matter hyper-intensities. Patients typically present with neurological manifestations such as epilepsy, facial pain, and migraines and ophthalmological symptoms in conjunction with white matter lesions. The patient demonstrated normal cognition and psychomotor development despite the presence of white matter lesions in her frontal lobe that is commonly associated with neurological symptoms. This report brings attention to the complicated relationship between facial, limb and brain imaging findings in Parry-Romberg syndrome and differentiates it from hemifacial microsomia syndrome.

Abstract P121: Twenty-two-year Cognitive Decline Was Significantly Associated With Vascular And Neurodegenerative Brain Changes In The Aric Neurocognitive Study

Introduction: Studies have found that smaller brain volumes, cerebral infarcts, and white matter abnormalities are associated with dementia and mild cognitive impairment. However, these studies have been limited by short follow-up precluding a strong establishment of temporality. Therefore, it is unknown whether brain imaging findings are preceded by long-term changes in cognition. We sought to address this gap by examining brain imaging and two decades of cognitive changes in and a large, representative population-based cohort of older adults of black and white race. Hypothesis: We hypothesized that 22-year declines in global cognitive factor scores (GCFS) would be associated with a pattern of smaller total brain and temporal lobe meta region of interest (likely to be affected by Alzheimer’s disease) volumes, larger white matter hyperintensity volumes, and greater odds of ≥1 lacunar infarct and elevated brain β-amyloid deposition. Methods: ARIC participants with brain imaging data, complete cognitive factor score, and not missing key covariates were included. GCFS were collected at three visits across 22 years (1990-2013), and brain MRI and florbetapir PET imaging were collected in 2011-13; PET in subset of n=327. Mixed effects models with random intercepts and slopes predicted individual change in GCFS. Outcomes of interest were total brain volume (cc), temporal lobe meta region volume, log 2 (white matter hyperintensity volume), ≥1 lacunar infarct, and elevated brain β-amyloid deposition (SUVR >1.2). Multivariable linear and logistic regression was used to relate outcomes to GCFS slopes after adjusting for confounders, including vascular risk factors. As appropriate, models were also adjusted for total intracranial volume. Results: Among 1957 with complete brain MRI imaging, 1830 were included in the study, 60% (n=1096) women and 26% (n=480) black. At the first visit, the mean (SD) baseline age was 55 (5.2) yrs. The mean (SD) observed GCFS at the three visits were 0.16 (0.79), 0.05 (0.75), and -0.78 (0.86). After adjustment, a 1-SD larger decline in GCFS was significantly associated with a smaller brain volume by 1.6% [95%CI: 1.3, 1.8] relative to mean brain volume, a smaller temporal lobe meta region volume by 2.4% [2.1, 2.8] relative to the mean volume, a 15% [11, 19] larger volume of white matter hyperintensities, 1.3-fold [1.2, 1.4] higher odds of having ≥1 lacune, and 1.8-fold [1.4, 2.4] higher odds of elevated brain β-amyloid deposition. Associations remained significant after further adjustment for first or last GCFS. Conclusions: Greater declines in long-term cognitive functioning were significantly associated with smaller brain volumes and dementia-related brain characteristics and were independent of last visit GCFS. This suggests long-term changes in cognition may precede late-life brain morphology and outperform cross-sectional cognitive measures.

Trends in Prevalence and Severity of Pre/Perinatal Cerebral Palsy Among Children Born Preterm From 2004 to 2010: A SCPE Collaboration Study.

Aim: To report on prevalence of cerebral palsy (CP), severity rates, and types of brain lesions in children born preterm 2004 to 2010 by gestational age groups.Methods: Data from 12 population-based registries of the Surveillance of Cerebral Palsy in Europe network were used. Children with CP were eligible if they were born preterm (<37 weeks of gestational age) between 2004 and 2010, and were at least 4 years at time of registration. Severity was assessed using the impairment index. The findings of postnatal brain imaging were classified according to the predominant pathogenic pattern. Prevalences were estimated per 1,000 live births with exact 95% confidence intervals within each stratum of gestational age: ≤27, 28–31, 32–36 weeks. Time trends of both overall prevalence and prevalence of severe CP were investigated using multilevel negative binomial regression models.Results: The sample comprised 2,273 children. 25.8% were born from multiple pregnancies. About 2-thirds had a bilateral spastic CP. 43.5% of children born ≤27 weeks had a high impairment index compared to 37.0 and 38.5% in the two other groups. Overall prevalence significantly decreased (incidence rate ratio per year: 0.96 [0.92–1.00[) in children born 32–36 weeks. We showed a decrease until 2009 for children born 28–31 weeks but an increase in 2010 again, and a steady prevalence (incidence rate ratio per year = 0.97 [0.92–1.02] for those born ≤27 weeks. The prevalence of the most severely affected children with CP revealed a similar but not significant trend to the overall prevalence in the corresponding GA groups. Predominant white matter injuries were more frequent in children born <32 weeks: 81.5% (≤27 weeks) and 86.4% (28–31 weeks), compared to 63.6% for children born 32–36 weeks.Conclusion: Prevalence of CP in preterm born children continues to decrease in Europe excepting the extremely immature children, with the most severely affected children showing a similar trend.

Reversible cerebral vasoconstriction syndrome: a comprehensive systematic review.

We aimed to analyze clinical characteristics, treatment patterns, and prognosis of patients with reversible cerebral vasoconstriction syndrome (RCVS). Two investigators independently searched PubMed and EMBASE, and 191 cases were included in this study. Information regarding demographics, triggering factors, brain imaging findings, treatment modalities, recurrence, and clinical outcome was collected. The mean age of the patients was 39.9 years, and 155 (81.2%) were female. The most common triggering factor for RCVS was an exposure to vasoactive substances (41.4%), followed by pregnancy/postpartum (20.9%), and sexual intercourse (10.5%). Multifocal stenosis (84.0%) and beading shape (82.4%) were the leading abnormal findings on angiography, while cerebral ischemic lesions (47.6%) and cerebral hemorrhage (mainly subarachnoid hemorrhage) (35.1%) were the main findings on brain computed tomography (CT)/magnetic resonance imaging (MRI). Calcium channel blockers (nimodipine/verapamil) were the most commonly used medications (44.5%) in the treatment of RCVS. Multivariate analysis identified that RCVS was precipitated by trauma/surgery/procedure (hazard ratio (HR): 3.29, 95% confidence interval (CI) (1.21-8.88), p=0.019), and presence of aphasia/neglect/apraxia during the acute phase of the disease (HR: 3.83, 95% CI (1.33-11.05), p=0.013) were found to be the two independent risk factors for residual neurological deficit after RCVS. In our systematic review, vasoactive substances were the most frequent triggers for RCVS, which was most commonly accompanied by angiographic findings of multifocal stenotic lesions. Patients with RCVS precipitated by trauma or surgical procedures and those with focal cortical deficits had a higher risk of residual neurological deficits, and these patients should closely be monitored.

Imaging findings of multisystem inflammatory syndrome in children associated with COVID-19.

BackgroundA hyperinflammatory immune-mediated shock syndrome has been recognised in children exposed to the severe acute respiratory syndrome coronavirus 2 (SARS-CoV-2), the virus that causes coronavirus disease 2019 (COVID-19).ObjectiveTo describe typical imaging findings in children with multisystem inflammatory syndrome associated with COVID-19.Materials and methodsDuring the first wave of the COVID-19 pandemic, imaging studies and clinical data from children treated for multisystem inflammatory syndrome were collected from multiple centres. Standardised case templates including demographic, biochemical and imaging information were completed by participating centres and reviewed by paediatric radiologists and paediatricians.ResultsWe included 37 children (21 boys; median age 8.0 years). Polymerase chain reaction (PCR) testing was positive for SARS-CoV-2 in 15/37 (41%) children and immunoglobulins in 13/19 children (68%). Common clinical presentations were fever (100%), abdominal pain (68%), rash (54%), conjunctivitis (38%) and cough (32%). Thirty-three children (89%) showed laboratory or imaging findings of cardiac involvement. Thirty of the 37 children (81%) required admission to the intensive care unit, with good recovery in all cases. Chest radiographs demonstrated cardiomegaly in 54% and signs of pulmonary venous hypertension/congestion in 73%. The most common chest CT abnormalities were ground-glass and interstitial opacities (83%), airspace consolidation (58%), pleural effusion (58%) and bronchial wall thickening (42%). Echocardiography revealed impaired cardiac function in half of cases (51%) and coronary artery abnormalities in 14%. Cardiac MRI showed myocardial oedema in 58%, pericardial effusion in 42% and decreased left ventricular function in 25%. Twenty children required imaging for abdominal symptoms, the commonest abnormalities being free fluid (71%) and terminal ileum wall thickening (57%). Twelve children underwent brain imaging, showing abnormalities in two cases.ConclusionChildren with multisystem inflammatory syndrome showed pulmonary, cardiac, abdominal and brain imaging findings, reflecting the multisystem inflammatory disease. Awareness of the imaging features of this disease is important for early diagnosis and treatment.Supplementary InformationThe online version contains supplementary material available at 10.1007/s00247-021-05065-0.

Relation Between Neutrophil Lymphocyte Ratio, Brain Imaging and Carotid Duplex Findings in Acute Ischemic Stroke.

Background: Neutrophil lymphocyte ratio (NLR) reflects the balance between neutrophils and lymphocytes. It may represents a prognostic predictor for the acute ischemic stroke severity. Objective: This study aimed to assess the relationship of NLR with the brain imaging (Computed Tomography (CT) and or Magnetic Resonance Imaging (MRI)) and carotid duplex findings in acute ischemic stroke patients. Methods: This study was conducted on sixty acute ischemic stroke patients (26 males, 34 females), their ages ranged from 45 to 95 years. Patients were subjected to detailed medical, neurology history taking, laboratory assessment including white blood cells (WBCs) count, absolute neutrophil count (ANC), and absolute lymphocyte count (ALC). NLR was calculated by dividing ANL by ALC, imaging investigation including CT and or MRI and carotid duplex ultrasonography. Results: There was a statistical significant association between NLR and the size of infarction among the studied patients, however there was no statistical significant association between NLR and findings of carotid duplex in our study. Conclusion: The higher the neutrophil lymphocyte ratio, the larger the size of infarction is expected.

Early diagnosis of brain tumours using a novel spectroscopic liquid biopsy

Early diagnosis of brain tumours is challenging and a major unmet need. Patients with brain tumours most often present with non-specific symptoms more commonly associated with less serious diagnoses, making it difficult to determine which patients to prioritize for brain imaging. Delays in diagnosis affect timely access to treatment, with potential impacts on quality of life and survival. A test to help identify which patients with non-specific symptoms are most likely to have a brain tumour at an earlier stage would dramatically impact on patients by prioritizing demand on diagnostic imaging facilities. This clinical feasibility study of brain tumour early diagnosis was aimed at determining the accuracy of our novel spectroscopic liquid biopsy test for the triage of patients with non-specific symptoms that might be indicative of a brain tumour, for brain imaging. Patients with a suspected brain tumour based on assessment of their symptoms in primary care can be referred for open access CT scanning. Blood samples were prospectively obtained from 385 of such patients, or patients with a new brain tumour diagnosis. Samples were analysed using our spectroscopic liquid biopsy test to predict presence of disease, blinded to the brain imaging findings. The results were compared to the patient’s index brain imaging delivered as per standard care. Our test predicted the presence of glioblastoma, the most common and aggressive brain tumour, with 91% sensitivity, and all brain tumours with 81% sensitivity, and 80% specificity. Negative predictive value was 95% and positive predictive value 45%. The reported levels of diagnostic accuracy presented here have the potential to improve current symptom-based referral guidelines, and streamline assessment and diagnosis of symptomatic patients with a suspected brain tumour.

Polygenic Score Models for Alzheimer's Disease: From Research to Clinical Applications.

The high prevalence of Alzheimer’s disease (AD) among the elderly population and its lack of effective treatments make this disease a critical threat to human health. Recent epidemiological and genetics studies have revealed the polygenic nature of the disease, which is possibly explainable by a polygenic score model that considers multiple genetic risks. Here, we systemically review the rationale and methods used to construct polygenic score models for studying AD. We also discuss the associations of polygenic risk scores (PRSs) with clinical outcomes, brain imaging findings, and biochemical biomarkers from both the brain and peripheral system. Finally, we discuss the possibility of incorporating polygenic score models into research and clinical practice along with potential challenges.

Replicating extensive brain structural heterogeneity in individuals with schizophrenia and bipolar disorder.

Identifying brain processes involved in the risk and development of mental disorders is a major aim. We recently reported substantial interindividual heterogeneity in brain structural aberrations among patients with schizophrenia and bipolar disorder. Estimating the normative range of voxel‐based morphometry (VBM) data among healthy individuals using a Gaussian process regression (GPR) enables us to map individual deviations from the healthy range in unseen datasets. Here, we aim to replicate our previous results in two independent samples of patients with schizophrenia (n1 = 94; n2 = 105), bipolar disorder (n1 = 116; n2 = 61), and healthy individuals (n1 = 400; n2 = 312). In line with previous findings with exception of the cerebellum our results revealed robust group level differences between patients and healthy individuals, yet only a small proportion of patients with schizophrenia or bipolar disorder exhibited extreme negative deviations from normality in the same brain regions. These direct replications support that group level‐differences in brain structure disguise considerable individual differences in brain aberrations, with important implications for the interpretation and generalization of group‐level brain imaging findings to the individual with a mental disorder.

Circular inference predicts nonuniform overactivation and dysconnectivity in brain-wide connectomes

Schizophrenia is a severe mental disorder whose neural basis remains difficult to ascertain. Among the available pathophysiological theories, recent work has pointed towards subtle perturbations in the excitation-inhibition (E/I) balance within different neural circuits. Computational approaches have suggested interesting mechanisms that can account for both E/I imbalances and psychotic symptoms. Based on hierarchical neural networks propagating information through a message-passing algorithm, it was hypothesized that changes in the E/I ratio could cause a “circular belief propagation” in which bottom-up and top-down information reverberate. This circular inference (CI) was proposed to account for the clinical features of schizophrenia. Under this assumption, this paper examined the impact of CI on network dynamics in light of brain imaging findings related to psychosis. Using brain-inspired graphical models, we show that CI causes overconfidence and overactivation most specifically at the level of connector hubs (e.g., nodes with many connections allowing integration across networks). By also measuring functional connectivity in these graphs, we provide evidence that CI is able to predict specific changes in modularity known to be associated with schizophrenia. Altogether, these findings suggest that the CI framework may facilitate behavioral and neural research on the multifaceted nature of psychosis.

Toxoplasmosis Among 38 751 Hematopoietic Stem-cell Transplant Recipients: A Systematic Review of Disease Prevalence and a Compilation of Imaging and Autopsy Findings.

Toxoplasmosis in hematopoietic stem-cell transplant (HSCT) recipients can be life threatening if not promptly diagnosed and treated. We performed a systematic review (PubMed last search March 29, 2020) of toxoplasmosis among HSCT recipients and calculated the toxoplasmosis prevalence across studies. We also created a compilation list of brain imaging, chest imaging, and autopsy findings of toxoplasmosis among HSCT recipients. We identified 46 eligible studies (47 datasets) with 399 toxoplasmosis cases among 38 751 HSCT recipients. There was large heterogeneity in the reported toxoplasmosis prevalence across studies, thus formal meta-analysis was not attempted. The median toxoplasmosis prevalence among 38 751 HSCT recipients was 2.14% (range 0%-66.67%). Data on toxoplasmosis among at-risk R+HSCT recipients were more limited (25 studies; 2404 R+HSCT recipients [6.2% of all HSCT recipients]), although the median number of R+HSCT recipients was 56.79% across all HSCT recipients. The median toxoplasmosis prevalence across studies among 2404 R+HSCT was 7.51% (range 0%-80%) versus 0% (range 0%-1.23%) among 7438 R-HSCT. There were limited data to allow meaningful analyses of toxoplasmosis prevalence according to prophylaxis status of R+HSCT recipients. Toxoplasmosis prevalence among HSCT recipients is underestimated. The majority of studies report toxoplasmosis prevalence among all HSCT recipients rather than only among the at-risk R+HSCT recipients. In fact, the median toxoplasmosis prevalence among all R+//R- HSCT recipients is 3.5-fold lower compared with the prevalence among only the at-risk R+HSCT recipients and the median prevalence among R+HSCT recipients is 7.51-fold higher than among R-HSCT recipients. The imaging findings of toxoplasmosis among HSCT recipients can be atypical. High index of suspicion is needed in R+HSCT recipients with fever, pneumonia, or encephalitis.

Clinical and Genetic Characteristics of Mitochondrial Encephalopathy Due to FOXRED1 Mutations: Two Chinese Case Reports and a Review of the Literature.

Background: As one of the assembly factors of complex I in the mitochondrial respiratory chain, FOXRED1 plays an important role in mitochondrial function. However, only a few patients with mitochondrial encephalopathy due to FOXRED1 defects have been reported.Methods: Two Chinese patients with mitochondrial encephalopathy due to mutations in FOXRED1 were identified through trio whole-exome sequencing. The clinical presentation, laboratory data, brain imaging findings, and genetic results were collected and reviewed. All previously reported cases with FOXRED1-related mitochondrial encephalopathy were collected using a PubMed search, and their data were reviewed.Results: Two patients presented with severe neurodevelopmental delay, epilepsy, high lactic acid levels, and remarkable diffuse brain atrophy and polycystic encephalomalacia during early infancy. Trio whole-exome sequencing revealed compound heterozygous variants in both patients: one case harbored a c.606_607delAG frameshift variant and a c.1054C>T (p.R352W) variant. At the same time, the other carried a novel c.352C>T (p.Q118X) variant and a reported c.1054C>T (p.R352W) variant. To date, nine patients have been reported with FOXRED1 defects, including our two cases. The most common presentations were neurodevelopment delay (100%), epilepsy (80%), poor feeding (30%), and vision loss (20%). Multisystem involvement comprised cardiovascular dysfunction (30%), abnormal liver function (20%), and hypoglycemia (10%). The neuroimaging results ranged from normal to severe cerebral atrophy and polycystic encephalomalacia in early infancy. Eleven pathogenic variants in FOXRED1 have been reported, comprising six missense variants, two non-sense variants, two frameshift variants, and one splice variant; among these the c.1054C>T (p.R352W) and c.612_615dupAGTG (p.A206SfsX15) variants are more common.Conclusion: FOXRED1-related mitochondrial disorders have high clinical and genetic heterogeneity. Our study expanded the clinical and genetic spectrum of FOXRED1 defects. Early infantile onset and progressive encephalopathy are the most common clinical presentations, while the variants c.1054C>T (p.R352W) and c.612_615dupAGTG (p.A206SfsX15) may be critical founder mutations.

A new insight into the definition of microcephaly in Zika congenital syndrome era.

This study aimed to compare the anthropometric measurements and body proportionalities of neonates born before the Zika virus epidemic with those born during this period. We compared 958 neonates born during the pre-Zika epidemic with 264 neonates born during the epidemic period. The newborns had their head circumference, weight, and length classified according to the Fenton & Kim growth chart. We considered disproportionate those individuals that presented microcephaly and adequate weight or length for sex and gestational age, and those whose head circumferences were lower than the ratio ((length / 2) + 9.5) - 2.5cm. We estimated the frequencies of Zika positivity and brain imaging findings among neonates with microcephaly born during the epidemic period, concerning the anthropometric and body proportionality parameters. Low weight and proportionate microcephaly were similar among newborns from both periods. However, the frequencies of newborns with microcephaly with a very low length and disproportionate microcephaly were higher among the neonates of the epidemic period with brain abnormalities and positive for Zika virus. We conclude that, at birth, the disproportion between head circumference and length can be an indicator of the severity of microcephaly caused by congenital Zika.

White matter network disruption and cognitive correlates underlying impaired memory awareness in mild cognitive impairment

Decreased awareness of memory declines in mild cognitive impairment (MCI) has been linked to structural or functional changes in a wide gray matter network; however, the underlying white matter pathway correlations for the memory awareness deficits remain unknown. Moreover, consistent findings have not been obtained regarding the cognitive basis of disturbed awareness of memory declines in MCI. Due to the methodological drawbacks (e.g., correlational analysis without controlling confounders related to clinical status, a problem related to the representativeness of the control group) of previous studies on the aforementioned topic, further investigation is required. To addressed the research gaps, this study investigated white matter microstructural integrity and the cognitive correlates of memory awareness in 87 older adults with or without mild cognitive impairment (MCI). The patients with MCI and healthy controls (HCs) were divided into two subgroups, namely those with normal awareness (NA) and poor awareness (PA) for memory deficit, according to the discrepancy scores calculated from the differences between subjective and objective memory evaluations. Only the results for HCs with NA (HC-NA) were compared with those for the two MCI groups (i.e., MCI-NA and MCI-PA). The three groups were matched on demographic and clinical variables. An advanced diffusion imaging technique—diffusion spectrum imaging—was used to investigate the integrity of the white matter tract. The results revealed that although the HC-NA group outperformed the two MCI groups on several cognitive tests, the two MCI groups exhibited comparable performance across different neuropsychological tests, except for the test on reasoning ability. Compared with the other two groups, the MCI-PA group exhibited lower integrity in bilateral frontal-striatal fibers, left anterior thalamocortical radiations, and callosal fibers connecting bilateral inferior parietal regions. These results could not be explained by gray matter morphometric differences. Overall, the results indicated that mnemonic anosognosia was not sufficient to explain the memory awareness deficits observed in the patients with MCI. Our brain imaging findings also support the concept of anosognosia for memory deficit as a disconnection syndrome in MCI.

Risk Factors of Intractable Epilepsy in Children with Cerebral Palsy.

ObjectivesWe aimed to investigate the risk factors predicting the development of intractable epilepsy in children with cerebral palsy (CP), with an emphasis on perinatal characteristics, seizure semiology, imaging, and EEG findings.Materials & MethodsFollowing a descriptive, retrospective, case-control design, 106 children with CP and epilepsy from 2015 to 2020 were studied (46 children with CP and intractable epilepsy and 60 with CP and controlled epilepsy). Data were retrieved from medical records of participants (i.e., demographics, clinical characteristics, perinatal history, etiology of seizure and CP, seizure semiology, intellectual functions, therapeutic options, brain imaging, and EEG findings).ResultsWe established a model of the most important risk factors that can predict intractable epilepsy in children with CP. The model included the additive effect of a poor Apgar score at 5 minutes, the presence of neonatal seizures, focal epilepsy, and focal slowing on the EEG background (Area under the receiver operating characteristic of 0.810). conclusionThe findings can be used to identify intractable epilepsy in children who suffer from CP with further support by offering early therapeutic interventions intended to reduce the burden of refractory seizures.

Aetiologies and clinical patterns of hypopituitarism in Sudanese children

There is paucity of reported information regarding aetiology and clinical profile of hypopituitarism from resource-limited countries particularly in populations with high rates of consanguineous marriages. Here, we are reporting the first data on this aspect from Sudan. This is a descriptive, retrospective, hospital-based study, carried out in the two main paediatric endocrinology centres in Sudan (Gafaar Ibn Auf Paediatric Tertiary Hospital and Soba University Hospital, Khartoum) from January 2006 up to December 2014. Patients' records were reviewed for relevant demographical, clinical, hormonal and radiological data using pretested study forms. The study included 156 patients. One hundred and one patients were males (M: F = 1.8:1). The commonest age groups were adolescents (57.7%). Consanguinity was found in 77.8% of patients overall and 91% of patients with congenital aetiologies. The commonest clinical presentation was short stature (93.5%). Congenital causes (86.5%) were more prevalent than acquired causes (13.5%). There were six family clusters with multiple pituitary hormone deficiencies (MPHD) and three families with isolated growth hormone (GH) deficiency (IGHD). Most of the congenital cases with MPHD were phenotypic for PROP1 gene mutation (77.5% of sporadic cases and 50% of familial cases). Craniopharyngioma was the commonest of the acquired causes (10.2%). GH was the most frequent hormone deficient (89.7%). Abnormal Magnetic resonance imaging brain findings were significantly seen more in MPHD in comparison to IGHD. The genetic forms of hypopituitarism in populations with high rates of consanguineous marriage like Sudan may be higher than those reported internationally. Molecular genetic studies are, therefore, highly recommended.

Development and validation of composite scores for language and visuospatial functioning in ADNI

AbstractBackgroundComposite scores may be useful to summarize overall language or visuospatial functioning. We generated composite scores for these domains from the Alzheimer’s Disease Neuroimaging Initiative (ADNI) and evaluated their validity.MethodWe used item response theory to derive composite measures for language (ADNI‐Lan) and visuospatial functioning (ADNI‐VS). We performed multiple validation analyses comparing ADNI‐Lan and ADNI‐VS to individual test and global scores among participants with normal cognition (NC), mild cognitive impairment (MCI), and Alzheimer’s disease (AD). We evaluated ability to detect change, strength of association with a priori selected structural brain imaging findings, association with risk of AD conversion for people with MCI, and differences in intercepts and slopes for people with MCI with vs. without the CSF AD biomarker signature.ResultThere were 1,913 people with imaging data and age ³60. Single factor IRT models fit the data well for both composites. ADNI‐Lan outperformed MMSE language items, ADAS‐Cog language items, the Boston Naming Test (BNT), and fluency items in detecting change for MCI and AD. The clock score was modestly better than ADNI‐VS at detecting change for MCI and AD. ADNI Lan was the best at predicting MCI to AD conversion, while the clock score did slightly better than ADNI‐VS. Strength of association of language scores with structural MRI findings are shown in Table 1. ADNI‐Lan and the BNT had stronger associations than other scores for MCI in ADNI1, and also in ADNI2/ADNIGO except for BNT/temporal pole. For AD, ADNI‐Lan had strong associations with each region, similar to other scores except MMSE. Strength of association of visuospatial scores with structural MRI findings are shown in Table 2. ADNI‐VS and the clock had similar strong associations for most regions. People with MCI with the CSF AD biomarker signature had lower language intercepts, captured best by ADNI‐Lan, and more rapid decline, also captured best by ADNI‐Lan. Intercepts were not different for either visuospatial score, and ADNI‐VS and the clock score had similar slope terms.ConclusionADNI‐Lang and ADNI‐VS had good evidence of validity and may be useful composites for language and visuospatial functioning in ADNI.

Dementia with aphasia and mirror phenomenon: examination of the mechanism using neuroimaging and neuropsychological findings: a case report

BackgroundAphasia often appears in persons living with dementia; however, aphasia and the mirror phenomenon are rarely present at the same time.Case presentationHere, we report a case of fluent conversation with a person in a mirror or a magazine, and examine the underlying mechanism using brain imaging and neuropsychological findings. We found that the appearance of the mirror phenomenon may be associated with a visuospatial dysfunction caused by a decreased function of the posterior region of the right temporal and parietal lobe. Moreover, active talking to a person in a mirror or a person in a magazine could be associated with disinhibition caused by a decline in bilateral frontal lobe function.ConclusionsThis case represents a very valuable and interesting presentation because it is the first report of a long-term follow-up of the course of dementia using neurological imaging, and of the neuropsychological analysis of the mechanism of conversation with a mirror image combined with aphasia.

Acute Neurological Symptoms After a Liver Transplant

Acute Neurological Symptoms After a Liver Transplant