Neurological Evaluation Research Articles

Different gender-derived gut microbiota influence stroke outcomes by mitigating inflammation

Background and purposeStroke is associated with high disability and mortality rates and increases the incidence of organ-related complications. Research has revealed that the outcomes and prognosis of stroke are regulated by the state of the intestinal microbiota. However, the possibility that the manipulation of the intestinal microbiota can alter sex-related stroke outcomes remain unknown.MethodsTo verify the different effects of microbiota from different sexes on stroke outcomes, we performed mouse fecal microbiota transplantation (FMT) and established a model of ischemic stroke. Male and female mice received either male or female microbiota through FMT. Ischemic stroke was triggered by MCAO (middle cerebral artery occlusion), and sham surgery served as a control. Over the next few weeks, the mice underwent neurological evaluation and metabolite and inflammatory level detection, and we collected fecal samples for 16S ribosomal RNA analysis.ResultsWe found that when the female mice were not treated with FMT, the microbiota (especially the Firmicutes-to-Bacteroidetes ratio) and the levels of three main metabolites tended to resemble those of male mice after experimental stroke, indicating that stroke can induce an ecological imbalance in the biological community. Through intragastric administration, the gut microbiota of male and female mice was altered to resemble that of the other sex. In general, in female mice after MCAO, the survival rate was increased, the infarct area was reduced, behavioral test performance was improved, the release of beneficial metabolites was promoted and the level of inflammation was mitigated. In contrast, mice that received male microbiota were much more hampered in terms of protection against brain damage and the recovery of neurological function.ConclusionA female-like biological community reduces the level of systemic proinflammatory cytokines after ischemic stroke. Poor stroke outcomes can be positively modulated following supplementation with female gut microbiota.

LEUKOENCEPHALOPATHY FROM HEROIN INHALATION: CHASING THE DRAGON

LEUKOENCEPHALOPATHY FROM HEROIN INHALATION: CHASING THE DRAGON

Growth, Morbidity and Neurological Outcome of a Cohort of Neonates in a Kangaroo Mother Care Program, in a Regional Hospital in Cameroon

Background: Kangaroo Mother Care (KMC) is a cost-effective intervention for the management of low birth weight babies in resource-limited settings such as Cameroon. Outcome data on babies followed through this intervention have been scarce since the implementation of the KMC programme in the Regional Hospital of Bamenda (RHB), North West region of Cameroon. Objectives: This study aimed at assessing growth, morbidity and outcome of neonates in the Kangaroo Mother Care (KMC) at the Regional Hospital Bamenda, Cameroon. Methods: It included 132 neonates with a birth weight of <2500 g who received KMC and followed up after discharge from 40 weeks post-conception, then 1, 3, 6, 9 and 12 months of age. Motor development was evaluated using the Infant Neurological International Battery (INFANIB) test. Results: Weight and height followed the same pattern as for term new-borns on the World Health Organization (WHO) curves. The same pattern of growth for head circumference was noted except at 6 months in boys and 9 months in girls, where an acceleration at the 95th percentile was observed. The three most common morbidities observed were upper respiratory tract infections (46.96%), diaper rashes (15.91%) and abdominal infant colics (9.85%). Neurological evaluation was appropriate when compared with WHO standards. Conclusion: Growth and neurological evaluation was appropriate and comparable with WHO references and few morbidities were noted. Keywords: Kangaroo Mother Care; Neonates; Growth; Outcome; Cameroon

Knockdown of sortilin improves the neurological injury and regional cerebral blood flow in rats after subarachnoid hemorrhage.

Subarachnoid hemorrhage (SAH) is a severe subtype of stroke. Sortilin protein is elevated in cerebrospinal fluid (CSF) of SAH patients. This study explored the mechanism of sortilin in SAH. SAH model was established by occipital cisternal blood injection. Neurological evaluation was performed on SAH rats using the Gracia scoring system and beam-balance tests. Regional cerebral blood flow (rCBF) and intracranial pressure (ICP) changes were measured using a laser Doppler blood flow monitor and an intraparenchymal Camino ICP probe. The correlation between rCBF changes and neurological deficit was analyzed using the Spearman method. Sortilin protein level in rat cerebral cortex and CSF was detected by Western blot. The Garcia score and beam-balance score of rats at 1, 12, 24, 48, and 72 h after SAH were lowered. Blood clots were observed on the ventral surface of the brain in SAH rats, around Willis ring, and ventral surface of brain stem, but no blood clots were found in the control group. At 1, 12, 24, 48, and 72 h after SAH in rats, the severity of SAH was aggravated, rCBF was decreased, and ICP was increased. The changes of rCBF in rat cerebral cortex at 1 and 72 h after SAH were correlated with the Garcia score. Sortilin was highly expressed in the cerebral cortex and CSF of SAH rats. Knockdown of sortilin improved the neurological injury and rCBF in rats. Sortilin was highly expressed in the cerebral cortex and CSF of SAH rats. Sortilin silencing improved neurological injury and CBF in rats.

Case Report: Motor and Sensory Development of a Case Followed with Suspicion of Neonatal Thiamine Metabolism Dysfunction Syndrome

The aim of this study was to follow early motor and sensory development of the infant with Thiamine Metabolism Dysfunction Syndrome (TMDS). Newborn with 38 weeks gestational age, 2600 kilograms weight admitted to neonatal intensive care unit (NICU) due to respiratory distress, absence of suction reflex, and floppy appearance. Case had respiratory support during 5 weeks. Infant was referred to SANKO University
 Physiotherapy unit on postterm 12th week due to hypotonia after discharge. Prechtl’s General Movements (GMs) and Hammersmith Infant Neurological Evaluation (HINE) was performed at 3rd and 4th months. Sensory processing parameters were evaluated with the Newborn Sensory Profile-2 (NSP-2). Case had no Fidgety movements (FMs). The HINE score was 37-45 in the 3th and 4th month respectively. Total score
 in NSP-2 was 33 in the 3rd month (general = 12, auditory = 7, visual = 8, tactile = 2, movement = 2, oral sensory processing = 1). While the case’s Newborn Sensory Profile-2 (NSP-2) total score was in newborn norms, visual, tactile, movement but oral sensory parameters and auditory parameters were in low limits. The low motor performance was associated with low NSP-2 score and showed interaction with motor-sensory development. It is concluded that early physiotherapy program can be effective.

Semaphorin 6D regulate corralling, hematoma compaction and white matter injury in mice after intracerebral hemorrhage

ObjectivesThe Semaphorin 6D (SEMA6D) shows important roles in cell guidance and lipid metabolism, but the effects and mechanisms of SEMA6D on tissue repair, white matter injury and the recovery of neurological function after intracerebral hemorrhage have not been well studied. Materials and MethodsIn this study, the autologous whole blood injection model of intracerebral hemorrhage was established in C57 male mice. SEMA6D knockout CRISPR utilized in the study. Assessments included neurological score evaluation and immunofluorescence. ResultsSEMA6D increased and peaked at 7d after intracerebral hemorrhage, and mainly located in neurons, microglia and astrocytes. SEMA6D knockout CRISPR aggravated neurological function and showed signs of poorer corralling and hematoma resolution, with more compartments of well-established physical barrier and more extensive GFAP positive astrocytic border. Furthermore, SEMA6D can prevent the decrease of NF-H in the peri-hematoma region, while SEMA6D knockout aggravated WMI. ConclusionsOur study suggested that SEMA6D could influence the recovery of neurological function by regulating the corralling, hematoma compaction and WMI in mice after intracerebral hemorrhage.

Correlation between retinal vessel rarefaction and psychometric measures in an older Southern Italian population.

ObjectiveTo explore the linear association between inner retinal layers thickness and macular capillary density compared to variations of global cognition evaluated by psychometric measures in a cohort of Mediterranean subjects aged 65+ years.Materials and methodsWe performed a cross-sectional analysis of 574 participants aged 65 years+ drawn from a population-based Southern Italian study. All subjects underwent neurological evaluations, including global cognitive screening, the Mini-Mental State Examination (MMSE) and frontal assessment battery (FAB), together with an ophthalmic examination including optical coherence tomography (OCT) and OCT-Angiography. We assessed the average thickness of the ganglion cell complex (GCC) and the retinal nerve fiber layer (RNFL), the foveal avascular zone area, and vascular density (VD) of superficial (SVD) and deep (DVD) capillary plexi at the foveal and parafoveal area. Linear regression was applied to assess associations of ocular measurements with MMSE and FAB scores.ResultsIn the linear regression model, foveal DVD (beta = 0.01, 95% CI:0.004–0.052), whole DVD (beta = 0.04, 95% CI:0.02–0.08), and whole SVD (beta = 0.04, 95% CI:0.02–0.07) showed a positive association with MMSE. In addition, foveal SVD (beta = 0.01, 95% CI:0.003–0.05) and whole SVD (beta = 0.03, 95% CI:0.004–0.08) were positively associated with the FAB score. We found no further significant association between the MMSE score or the FAB score and the average thickness of the GCC and RNFL, and FAZ area.ConclusionA direct linear association between the VD of the macular capillary plexi with global and frontal cognitive functions was observed in elderly subjects.

Impact of Anticoagulants in Reducing Mortality and Disability in Cardioembolic Stroke Patients.

Background and Objectives: Stroke is currently the second most common cause of death and disability-adjusted life years worldwide. Previous studies have determined that cardioembolic stroke is associated with higher mortality. Our aim is to compare the long-term outcome and mortality of atherothrombotic, cardioembolic stroke patients and patients taking direct oral anticoagulants (DOACs), and to demonstrate that adequate treatment with DOACs is associated with better results. Materials and Methods: In our retrospective study, we collected the data of ischemic stroke patients who were treated at P. Stradins Clinical University Hospital, Riga, Latvia, Stroke Unit, in the year 2017. In the present study, we analyzed this information to assess the patients’ demographic and clinical data, vascular risk factors, functional and neurological evaluation results, and the use of anticoagulant therapy. Stroke survivors were followed-up via telephone at 30/90/180/365 days and 4 years after being discharged from the hospital. The Latvian version of the National Institutes of Health Stroke Scale (NIHSS-LV) was used to evaluate patients’ neurological outcomes at discharge, and patients’ functional outcomes were evaluated using the modified Rankin scale (mRS). The collected data of the patients were separated into three groups according to the stroke subtype and use of direct oral anticoagulants. Results: A total of 654 ischemic stroke patients were admitted to the hospital in the year 2017. Of all the strokes included in the study, 262 presented an atherothrombotic etiology and 392 presented a cardioembolic etiology. The median age of the patients in the study was 76 years (IQR: 67–83). The median age of patients in the atherothrombotic stroke group was 71 years (IQR = 64–79), in the cardioembolic stroke group it was 79 (IQR = 72–84), and in the DOAC group it was 75 years (IQR = 69–82), respectively. At the period of four years, of all the atherothrombotic stroke survivors 14 (10.5%) had a severe disability, and 64 (48.1%) did not survive. However, 12 (4.1%) of the cardioembolic stroke survivors were severely disabled and 37 (12.5%) had died. In the group of patients taking DOACs 6 (4.5%) had a severe disability and 17 (12.9%) did not survive. In all the patient groups, the leading cause of death was due to severe disability (22%), followed by recurrent cardioembolic events (8%). Conclusions: Previous studies until now have concluded that cardioembolic stroke is associated with higher mortality and an unfavorable functional outcome. In our study, the cardioembolic stroke group and the DOAC group had a statistically significant higher percentage of patients with congestive heart failure and older age, but their long-term mortality was lower and they achieved independence more often than the atherothrombotic stroke patients. The proper use of anticoagulants shows great improvement in long-term survival rate and functional outcome.

Tanshinone IIA-Loaded Nanoparticle and Neural Stem Cell Therapy Enhances Recovery in a Pig Ischemic Stroke Model.

Induced pluripotent stem cell-derived neural stem cells (iNSCs) are a multimodal stroke therapeutic that possess neuroprotective, regenerative, and cell replacement capabilities post-ischemia. However, long-term engraftment and efficacy of iNSCs is limited by the cytotoxic microenvironment post-stroke. Tanshinone IIA (Tan IIA) is a therapeutic that demonstrates anti-inflammatory and antioxidative effects in rodent ischemic stroke models and stroke patients. Therefore, pretreatment with Tan IIA may create a microenvironment that is more conducive to the long-term survival of iNSCs. In this study, we evaluated the potential of Tan IIA drug-loaded nanoparticles (Tan IIA-NPs) to improve iNSC engraftment and efficacy, thus potentially leading to enhanced cellular, tissue, and functional recovery in a translational pig ischemic stroke model. Twenty-two pigs underwent middle cerebral artery occlusion (MCAO) and were randomly assigned to a PBS + PBS, PBS + iNSC, or Tan IIA-NP + iNSC treatment group. Magnetic resonance imaging (MRI), modified Rankin Scale neurological evaluation, and immunohistochemistry were performed over a 12-week study period. Immunohistochemistry indicated pretreatment with Tan IIA-NPs increased iNSC survivability. Furthermore, Tan IIA-NPs increased iNSC neuronal differentiation and decreased iNSC reactive astrocyte differentiation. Tan IIA-NP + iNSC treatment enhanced endogenous neuroprotective and regenerative activities by decreasing the intracerebral cellular immune response, preserving endogenous neurons, and increasing neuroblast formation. MRI assessments revealed Tan IIA-NP + iNSC treatment reduced lesion volumes and midline shift. Tissue preservation and recovery corresponded with significant improvements in neurological recovery. This study demonstrated pretreatment with Tan IIA-NPs increased iNSC engraftment, enhanced cellular and tissue recovery, and improved neurological function in a translational pig stroke model.

Effects of robot-assisted task-oriented upper limb motor training on neuroplasticity in stroke patients with different degrees of motor dysfunction: A neuroimaging motor evaluation index.

IntroductionAlthough robot-assisted task-oriented upper limb (UL) motor training had been shown to be effective for UL functional rehabilitation after stroke, it did not improve UL motor function more than conventional therapy. Due to the lack of evaluation of neurological indicators, it was difficult to confirm the robot treatment parameters and clinical efficacy in a timely manner. This study aimed to explore the changes in neuroplasticity induced by robot-assisted task-oriented UL motor training in different degrees of dysfunction patients and extract neurological evaluation indicators to provide the robot with additional parameter information.Materials and methodsA total of 33 adult patients with hemiplegic motor impairment after stroke were recruited as participants in this study, and a manual muscle test divided patients into muscle strength 0–1 level (severe group, n = 10), 2–3 level (moderate group, n = 14), and 4 or above level (mild group, n = 9). Tissue concentration of oxyhemoglobin and deoxyhemoglobin oscillations in the bilateral prefrontal cortex, dorsolateral prefrontal cortex (DLPFC), superior frontal cortex (SFC), premotor cortex, primary motor cortex (M1), primary somatosensory cortex (S1), and occipital cortex were measured by functional near-infrared spectroscopy (fNIRS) in resting and motor training state. The phase information of a 0.01 −0.08 Hz signal was identified by the wavelet transform method. The wavelet amplitude, lateralization index, and wavelet phase coherence (WPCO) were calculated to describe the frequency-specific cortical changes.ResultsCompared with the resting state, significant increased cortical activation was observed in ipsilesional SFC in the mild group and bilateral SFC in the moderate group during UL motor training. Patients in the mild group demonstrated significantly decreased lateralization of activation in motor training than resting state. Moreover, the WPCO value of motor training between contralesional DLPFC and ipsilesional SFC, bilateral SFC, contralesional, S1, and ipsilesional M1 showed a significant decrease compared with the resting state in the mild group.ConclusionRobot-assisted task-oriented UL motor training could modify the neuroplasticity of SFC and contribute to control movements and continuous learning motor regularity for patients. fNIRS could provide a variety of real-time sensitive neural evaluation indicators for the robot, which was beneficial to formulating more reasonable and effective personalized prescriptions during motor training.

A Case of Landau-Kleffner Syndrome with Autism Spectrum Disorder Symptoms Improved After Corticosteroid Treatment

Çok nadir rastlanan bir çocukluk-çağı hastalığı olan Landau-Kleffner Sendromu (LKS), elektroensefalogramdaki (EEG) epileptiform etkinlik ile ilişkili edinsel afazidir. Landau-Kleffner Sendromu’nun klinik görünümü bazı çocuklarda Otizm Spektrum Bozukluğu’na (OSB) benzeyebilir. Bu yazıda Çocuk ve Ergen Ruh Sağlığı ve Hastalıkları (ÇRS) polikliniğine OSB belirtileri ile başvuran, ancak nörolojik tetkikler sonucunda LKS tanısı konulan, LKS medikal tedavisi sonrası nöropsikiyatrik semptomlarında belirgin düzelme gösteren bir vaka sunulmuştur. Dört yaş yedi aylık erkek çocuk, konuşmada gerileme, sosyal iletişimde azalma ve tekrarlayıcı davranış kalıpları şeklindeki yakınmaları ile ÇRS polikliniğine getirilmiştir. İlk olarak OSB tanısı konulmuş ve Çocuk Nöroloji’ye yönlendirilmiş olan vakanın yapılan nörolojik değerlendirmeleri sonrasında, hastaya LKS tanısı konulmuş ve antiepileptik tedavi başlanmıştır. Üç ay kadar kullanılan konvansiyonel antiepileptik tedaviden fayda görmeyen hastaya kortikosteroid tedavi başlanmış ve 1 ay içerisinde konuşma regresyonunda ve LKS’ye bağlı olan OSB belirtilerinde klinik olarak azalma görülmüştür, 3 ay içinde ise bu belirtilerde belirgin düzelme olduğu gözlenmiştir. Bu makalede, LKS’de konvansiyonel antiepileptik tedavi ile bilişsel ve dil fonksiyonlarında ve EEG patolojisinde düzelme olmayan vakalarda kortikosteroid tedavisiyle hem nöropsikiyatrik semptomlarında hem de EEG bulgularında hızlı düzelme sağlanabileceği bildirilmiştir. Alanyazında, LKS’de bilinen tedavilerin konuşma regresyonunu düzeltmede etkili olduğuna yönelik daha fazla bilgi olmakla birlikte, LKS’ye bağlı ortaya çıkan OSB belirtilerini azaltmasına yönelik çok az vaka bildirimi vardır.

Point-of-care ultrasound of peripheral nerves in the diagnosis of Hansen's disease neuropathy.

IntroductionHansen's disease (HD) is the most common cause of treatable peripheral neuropathy in the world that may or may not involve skin manifestations, and physical examination based on simplified neurologic evaluation is a subjective and inaccurate procedure. High-resolution ultrasound (HRUS) can be used to evaluate peripheral nerves and is a validated technique of good reproducibility, permitting a detailed and precise examination.ObjectivesWe proposed to establish objective criteria for absolute values of the measurement of the CSA of peripheral nerves and their indices of the ΔCSA and ΔTpT in the diagnosis of Hansen's disease neuropathy as compared with healthy voluntaries.Materials and methodsIn municipalities from different regions of Brazil, we randomly selected 234 volunteer Brazilian patients diagnosed with leprosy to be submitted to peripheral nerve echography and compared with 49 healthy Brazilian volunteers.ResultsHansen Disease assessed by high resolution ultrasound is a primarily neural disease that leads to multiple hypertrophic mononeuropathy characterized by CSA values exceeding normal limits (Med CT = 10.2 mm2; UT = 9.8 mm2; UPT = 9.3 mm2; CFFH = 18.3 mm2; T = 9.6 mm2), and the pattern of asymmetry (ΔCSA>2.5 mm2 with RR 13) and focality (ΔTPT > 2.5 mm2 with RR 6.4) of this thickening has higher sensitivity (76,1%) and specificity (87,8 %) for its early diagnosis that laboratory tests. Analyzing each subject, the percentage of thickened nerves detected among the total number of nerves assessed was higher among patients with HD than among healthy individuals (p < 0.0001). Individuals with two or more thickened nerves were at 24.1 times higher relative risk (95% CI: 6.74–88.98) of HD.

From the diagnosis of a probable post-polio syndrome to spina bifida: A case report of a 49-year-old man

Introduction: Post-polio syndrome is defined as a specific clinical condition that affects individuals previously affected by acute anterior poliomyelitis and, undoubtedly, is an exclusion diagnosis. Among the range of differential diagnoses, spina bifida may be one of them. Spina bifida is a condition that affects the spine and is usually apparent at birth. It is a type of neural tube defect (NTD) and can happen anywhere along the spine if the neural tube does not close all the way. When the neural tube doesn’t close all the way, the backbone that protects the spinal cord doesn’t form and close as it should. This often results in damage to the spinal cord and peripheral nerves. Case Report: We report the case of a patient, male, 49 years old, with an alleged diagnosis of post-poliomyelitis syndrome (PPS) for benefit renewal due to permanent and disabling motor disability. After a thorough clinical history and neurological evaluation, in addition to the characteristic findings of spina bifida: bilateral pes cavus, fecal and urinary incontinence, surgical incision in the lumbar region, genu varus, amyotrophyparesis in lower limbs and abolition of bilateral Achilles reflexes, spina bifida diagnoses was considered. Conclusion: This article presents some “clinical pearls” in the differential diagnoses of spinal cord diseases. The possibility of PPS was excluded and the application for the benefit for spina bifida was redone. In addition to the post-history diagnoses determined by the diagnosis of diagnostic syndrome (that were not scored by our patient), the sum of the clinical history, the neurological examination and anchored spine in the image by revisions, were the foundation for the diagnosis of the bifida spina.

Freezing of Gait in Parkinson's Disease Patients Treated with Bilateral Subthalamic Nucleus Deep Brain Stimulation: A Long-Term Overview.

Bilateral subthalamic nucleus deep brain stimulation (STN-DBS) is an effective treatment in advanced Parkinson’s Disease (PD). However, the effects of STN-DBS on freezing of gait (FOG) are still debated, particularly in the long-term follow-up (≥5-years). The main aim of the current study is to evaluate the long-term effects of STN-DBS on FOG. Twenty STN-DBS treated PD patients were included. Each patient was assessed before surgery through a detailed neurological evaluation, including FOG score, and revaluated in the long-term (median follow-up: 5-years) in different stimulation and drug conditions. In the long term follow-up, FOG score significantly worsened in the off-stimulation/off-medication condition compared with the pre-operative off-medication assessment (z = −1.930; p = 0.05) but not in the on-stimulation/off-medication (z = −0.357; p = 0.721). There was also a significant improvement of FOG at long-term assessment by comparing on-stimulation/off-medication and off-stimulation/off-medication conditions (z = −2.944; p = 0.003). These results highlight the possible beneficial long-term effects of STN-DBS on FOG.

Scoping Review: Neurocognitive Outcome Assessments After Critical Illness in Children.

To map the literature regarding assessment of neurocognitive outcomes in PICU survivors. Secondary objectives were to identify literature gaps and to provide data for development of a Core Outcome Measures Set in the domain. Planned, a priori analysis was performed of data from an over-all scoping review of Post-Intensive Care Syndrome-pediatrics (PICS-p) functional outcomes. English-language databases and registries from 1970 to 2017 were searched by a medical librarian to identify manuscripts reporting on Post Intensive Care Syndrome-pediatrics (PICS-p). Further, detailed data extraction for neurocognitive outcomes was performed focusing on study characteristics, instruments used, and populations. 114 instruments evaluated neurocognitive function in 183 manuscripts. 83% of manuscripts were published after 2000. Median of 3 (IQR 2-5) neurocognitive instruments per manuscript were reported. Wechsler Scales (45%), clinical neurologic evaluations (21%), Pediatric Cerebral Performance Category (20%), Bayley Scales of Infant Development (16%), and Vineland Adaptive Behavior Scales (11%) were the most commonly used instruments. Median sample size was 65 (IQR 32-129) subjects. Most (63%) assessments were conducted in-person and parents/guardians (40%) provided the information. Patients with congenital heart disease and traumatic brain injury were most commonly evaluated (31% and 24% of manuscripts, respectively). Adolescents were the most commonly studied age group (34%). Baseline function was infrequently assessed (11% of manuscripts); most studies assessed patients at only one time point after PICU discharge. Within studies, neurocognitive assessments were often combined with others - especially social (18%) and physical (8%). 183 manuscripts studied the neurocognitive domain of PICS-p. Studies were quantitative and tended to focus on populations with anticipated cognitive impairment. Considerable variability exists among the chosen 114 instruments used; however, 4 instruments were frequently chosen with focus on intelligence, cerebral functioning, and developmental and adaptive behavior. The literature is marked by lack of agreement on methodologies but reflects the burgeoning interest in studying PICS-p neurocognitive outcomes.

Visual and social differences in dyslexia: deep phenotyping of four cases with spared phonology

ABSTRACT Diagnostic criteria for dyslexia describe specific reading difficulties, and single-deficit models, including the phonological deficit theory, have prevailed. Children seeking diagnosis, however, do not always show phonological deficits, and may present with strengths and challenges beyond reading. Through extensive neurological, neuropsychological, and academic evaluation, we describe four children with visuospatial, socio-emotional, and attention impairments and spared phonology, alongside long-standing reading difficulties. Diffusion tensor imaging revealed white matter alterations in inferior longitudinal, uncinate, and superior longitudinal fasciculi versus neurotypical children. Findings emphasize that difficulties may extend beyond reading in dyslexia and underscore the value of deep phenotyping in learning disabilities.

Outcome of Long-Segment Fixation versus Inclusion of the Fractured Level in Short-Segment Fixation for Thoracolumbar Junction Fractures.

Objective The aim of this study was to compare the radiological outcomes of long-segment fixation and short-segment fixation, including the fracture level in patients treated for thoracolumbar junction fractures. Methods Data collected from records of patients with thoracolumbar junction fractures who were operated at our department. Neurological evaluation was done using American Spinal Injury Association classification score. Radiological parameters used were the Cobb's angle, vertebral body compression ratio, the anteroposterior spinal canal diameter, and the anterior and the posterior vertebral body heights. Patients were divided into two groups: group A included patients who underwent long-segment fixation and group B included patients who underwent short-segment fixation with inclusion of the fracture level. Results The mean preoperative Cobb angle was 22.51 degrees in group A and 19.37 degrees in group B. Both groups showed improvement in the postoperative Cobb angle as the mean in group A was 14.17 degrees and in group B was 11.77 degrees. The mean preoperative compression ratio in group A was 82.8%, while in group B it was 76%. The postoperative mean in group A was 89.2%, while in group B, it was 84%. The mean preoperative anterior vertebral body height of the fractured vertebra in group A was 16.7 mm, while in group B, it was 15.18 mm. The mean preoperative posterior vertebral body height in group A was 16.33 mm and that of group B was 19.41 mm. The mean postoperative anterior vertebral body height in group A was 17.66 mm and that of group B was 17.10 mm. The mean postoperative posterior vertebral body height in group A was 17.11 mm and that of group B was 20.79 mm. Conclusion Posterior short-segment fixation with additional screws at the fracture level provides similar-if not better-clinical and radiological outcomes to long-segment fixation in the treatment of thoracolumbar junction fractures.

Familial Early-Onset Alzheimer's Caused by Novel Genetic Variant and APP Duplication: A Cross-Sectional Study.

The clinical characteristics of symptomatic and asymptomatic carriers of early- onset autosomal dominant Alzheimer's (EOADAD) due to a yet-undescribed chromosomal rearrangement may add to the available body of knowledge about Alzheimer's disease and may enlighten novel and modifier genes. We report the clinical and genetic characteristics of asymptomatic and symptomatic individuals carrying a novel APP duplication rearrangement. Individuals belonging to a seven-generation pedigree with familial cognitive decline or intracerebral hemorrhages were recruited. Participants underwent medical, neurological, and neuropsychological evaluations. The genetic analysis included chromosomal microarray, Karyotype, fluorescence in situ hybridization, and whole genome sequencing. Of 68 individuals, six females presented with dementia, and four males presented with intracerebral hemorrhage. Of these, nine were found to carry Chromosome 21 copy number gain (chr21:27,224,097-27,871,284, GRCh37/hg19) including the APP locus (APP-dup). In seven, Chromosome 5 copy number gain (Chr5: 24,786,234-29,446,070, GRCh37/hg19) (Chr5-CNG) cosegregated with the APP-dup. Both duplications co-localized to chromosome 18q21.1 and segregated in 25 pre-symptomatic carriers. Compared to non-carriers, asymptomatic carriers manifested cognitive decline in their mid-thirties. A third of the affected individuals carried a diagnosis of a dis-immune condition. APP extra dosage, even in isolation and when located outside chromosome 21, is pathogenic. The clinical presentation of APP duplication varies and may be gender specific, i.e., ICH in males and cognitive-behavioral deterioration in females. The association with immune disorders is presently unclear but may prove relevant. The implication of Chr5-CNG co-segregation and the surrounding chromosome 18 genetic sequence needs further clarification.

Evaluation of neurological and cardiac development of newborn infants born to mothers infected with COVID-19

Background/Aim: In the coronavirus disease 2019 (COVID-19) pandemic, which has been affecting the world for the last 2 years, pulmonary, cardiovascular, and neurological adverse effects of severe acute respiratory syndrome coronavirus 2 (SARS-CoV-2) have been reported. These negative influences entail a risk for fetal progress. In this study, by performing a detailed clinical evaluation, postnatal ultrasonography, and echocardiography, we aimed to investigate potential neurological and cardiac complications of newborns born to pregnant women infected with COVID-19. Methods: This prospective and cross-sectional study was conducted between January and July 2021. Newborn infants (0–28 days postpartum) born to mothers with proven COVID-19 infection by positive RT-PCR test during pregnancy were enrolled. Fetal cardiac development was evaluated by a pediatric cardiologist with an echocardiographic examination. Fetal neurologic evaluation was performed by a pediatric neurologist using both neurologic examination and transfontanelle ultrasonography (TFUS). Infants were reevaluated every 2 months until 6 months of age. Results: Thirty-three female and 32 male infants born to 64 pregnant women, one being a twin birth, were included in the study. Seven women developed COVID-19 infection in the first trimester, 11 in the second trimester, and 46 in the third trimester. Neurological examination and TFUS were normal in all newborns except one with microcephaly. The etiologic cause could not be detected in this infant, and his neurodevelopment was normal in the follow-up. The cardiac examination did not reveal any significant disorders. Eleven infants failed the standard “Auditory Brainstem Response” (ABR) hearing screening test, so a second test was performed. Only two infants required further investigation after the second test. Conclusion: We did not observe any neurologic and cardiologic teratogenic effects associated with COVID-19 infection during pregnancy.

In Vertebral Hemangiomas with Neurological Deficit, Is a Less Extensive Approach Adequate.

This was a retrospective study. To analyze the surgical and neurological outcomes following surgical decompression in patients with aggressive vertebral hemangioma (AVH) presenting with neurological deficit and to determine whether a less extensive approach is appropriate. AVHs are a rare subset of benign vascular tumors frequently presenting with neurological deficit because of spinal cord compression. Though the results of surgical management have improved over time, there is a lack of consensus on the ideal management in this group of patients. Twenty-one patients who underwent surgery for AVH between 2009 and 2018 were analyzed. Demographic and clinical details of patients were retrieved from hospital information system. Imaging information (i.e., radiography, computed tomography, magnetic resonance imaging) of all patients was accessed and analyzed in picture archiving and communication system. Tumor staging was performed using Enneking and Weinstein-Boriani-Biagini classifications and Spinal Instability Neoplastic Score. At followup, neurological and radiological evaluations were performed. Twenty-one patients (13 [61.9%] females and 8 [38.1%] males) were included with a mean age of 44.29 years (range, 14-72 years). All patients in the study had neurological deficit. Back pain was present in 80.9% of patients. Mean duration of symptoms was 4.6 months (range, 1 day to 10 months). Most common lesion location was thoracic spine (n=12), followed by thoracolumbar (D11- L2; n=7) and lumbar (n=2) regions. Ten patients had multiple level lesions. All patients underwent preoperative embolization. Nine patients underwent intralesional spondylectomy with reconstruction; another nine patients underwent stabilization, decompression, and vertebroplasty; three patients underwent decompression and stabilization. Neurology improved in all patients, and only one case of recurrence was noted in a mean follow-up of 55.78±25 months (range, 24-96 months). In AVH, good clinical and neurological outcomes with low recurrence rates can be achieved using less extensive procedures, such as posterior instrumented decompression with vertebroplasty and intralesional tumor resection.