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1.
J Am Coll Radiol ; 21(6S): S168-S202, 2024 Jun.
Article in English | MEDLINE | ID: mdl-38823943

ABSTRACT

As the proportion of women diagnosed with invasive breast cancer increases, the role of imaging for staging and surveillance purposes should be determined based on evidence-based guidelines. It is important to understand the indications for extent of disease evaluation and staging, as unnecessary imaging can delay care and even result in adverse outcomes. In asymptomatic patients that received treatment for curative intent, there is no role for imaging to screen for distant recurrence. Routine surveillance with an annual 2-D mammogram and/or tomosynthesis is recommended to detect an in-breast recurrence or a new primary breast cancer in women with a history of breast cancer, and MRI is increasingly used as an additional screening tool in this population, especially in women with dense breasts. The American College of Radiology Appropriateness Criteria are evidence-based guidelines for specific clinical conditions that are reviewed annually by a multidisciplinary expert panel. The guideline development and revision process support the systematic analysis of the medical literature from peer reviewed journals. Established methodology principles such as Grading of Recommendations Assessment, Development, and Evaluation or GRADE are adapted to evaluate the evidence. The RAND/UCLA Appropriateness Method User Manual provides the methodology to determine the appropriateness of imaging and treatment procedures for specific clinical scenarios. In those instances where peer reviewed literature is lacking or equivocal, experts may be the primary evidentiary source available to formulate a recommendation.


Subject(s)
Breast Neoplasms , Evidence-Based Medicine , Neoplasm Invasiveness , Societies, Medical , Breast Neoplasms/diagnostic imaging , Breast Neoplasms/pathology , Humans , Female , United States , Neoplasm Invasiveness/diagnostic imaging , Neoplasm Staging , Mammography/standards , Magnetic Resonance Imaging/methods
2.
Transl Psychiatry ; 14(1): 233, 2024 Jun 01.
Article in English | MEDLINE | ID: mdl-38824150

ABSTRACT

People living with HIV and those diagnosed with alcohol use disorders (AUD) relative to healthy individuals commonly have low levels of serum albumin, substantiated as an independent predictor of cardiovascular events. White matter hyperintensities (WMH)-a neuroimaging feature of cerebral small vessel disease-are also related to cardiovascular disease. Despite consensus regarding associations between high levels of urine albumin and WMH prevalence, and low serum albumin levels and impaired cognitive functioning, relations between serum albumin and WMH burdens have rarely been evaluated. Here, a sample including 160 individuals with AUD, 142 living with HIV, and 102 healthy controls was used to test the hypothesis that serum albumin would be inversely related to WMH volumes and directly related to cognitive performance in the two diagnostic groups. Although serum albumin and periventricular WMH volumes showed an inverse relationship in both AUD and HIV groups, this relationship persisted only in the HIV group after consideration of traditional cardiovascular (i.e., age, sex, body mass index (BMI), nicotine use, hypertension, diabetes), study-relevant (i.e., race, socioeconomic status, hepatitis C virus status), and disease-specific (i.e., CD4 nadir, HIV viral load, HIV duration) factors. Further, serum albumin contributed more significantly than periventricular WMH volume to variance in performance on a verbal learning and memory composite score in the HIV group only. Relations in both HIV and AUD groups between albumin and hematological red blood cell markers (e.g., hemoglobin, hematocrit) suggest that in this sample, serum albumin reflects hematological abnormalities. Albumin, a simple serum biomarker available in most clinical settings, may therefore help identify periventricular WMH burden and performance levels in specific cognitive domains in people living with HIV. Whether serum albumin contributes mechanistically to periventricular WMH in HIV will require additional investigation.


Subject(s)
Alcoholism , HIV Infections , Magnetic Resonance Imaging , Serum Albumin , White Matter , Humans , Female , Male , Middle Aged , White Matter/diagnostic imaging , White Matter/pathology , HIV Infections/complications , HIV Infections/pathology , HIV Infections/diagnostic imaging , Serum Albumin/metabolism , Alcoholism/diagnostic imaging , Alcoholism/pathology , Adult , Cognitive Dysfunction/diagnostic imaging , Cognitive Dysfunction/pathology , Cognitive Dysfunction/blood
3.
Sci Rep ; 14(1): 12629, 2024 Jun 01.
Article in English | MEDLINE | ID: mdl-38824168

ABSTRACT

Moral judgements about people based on their actions is a key component that guides social decision making. It is currently unknown how positive or negative moral judgments associated with a person's face are processed and stored in the brain for a long time. Here, we investigate the long-term memory of moral values associated with human faces using simultaneous EEG-fMRI data acquisition. Results show that only a few exposures to morally charged stories of people are enough to form long-term memories a day later for a relatively large number of new faces. Event related potentials (ERPs) showed a significant differentiation of remembered good vs bad faces over centerofrontal electrode sites (value ERP). EEG-informed fMRI analysis revealed a subcortical cluster centered on the left caudate tail (CDt) as a correlate of the face value ERP. Importantly neither this analysis nor a conventional whole-brain analysis revealed any significant coding of face values in cortical areas, in particular the fusiform face area (FFA). Conversely an fMRI-informed EEG source localization using accurate subject-specific EEG head models also revealed activation in the left caudate tail. Nevertheless, the detected caudate tail region was found to be functionally connected to the FFA, suggesting FFA to be the source of face-specific information to CDt. A further psycho-physiological interaction analysis also revealed task-dependent coupling between CDt and dorsomedial prefrontal cortex (dmPFC), a region previously identified as retaining emotional working memories. These results identify CDt as a main site for encoding the long-term value memories of faces in humans suggesting that moral value of faces activates the same subcortical basal ganglia circuitry involved in processing reward value memory for objects in primates.


Subject(s)
Electroencephalography , Evoked Potentials , Magnetic Resonance Imaging , Morals , Humans , Magnetic Resonance Imaging/methods , Female , Male , Adult , Evoked Potentials/physiology , Young Adult , Caudate Nucleus/physiology , Caudate Nucleus/diagnostic imaging , Brain Mapping/methods , Face/physiology , Memory/physiology , Judgment/physiology
4.
Sci Rep ; 14(1): 12604, 2024 Jun 01.
Article in English | MEDLINE | ID: mdl-38824230

ABSTRACT

Pulse wave encephalopathy (PWE) is hypothesised to initiate many forms of dementia, motivating its identification and risk assessment. As candidate pulsatility based biomarkers for PWE, pulsatility index and pulsatility damping have been studied and, currently, do not adequately stratify risk due to variability in pulsatility and spatial bias. Here, we propose a locus-independent pulsatility transmission coefficient computed by spatially tracking pulsatility along vessels to characterise the brain pulse dynamics at a whole-organ level. Our preliminary analyses in a cohort of 20 subjects indicate that this measurement agrees with clinical observations relating blood pulsatility with age, heart rate, and sex, making it a suitable candidate to study the risk of PWE. We identified transmission differences between vascular regions perfused by the basilar and internal carotid arteries attributed to the identified dependence on cerebral blood flow, and some participants presented differences between the internal carotid perfused regions that were not related to flow or pulsatility burden, suggesting underlying mechanical differences. Large populational studies would benefit from retrospective pulsatility transmission analyses, providing a new comprehensive arterial description of the hemodynamic state in the brain. We provide a publicly available implementation of our tools to derive this coefficient, built into pre-existing open-source software.


Subject(s)
Cerebrovascular Circulation , Magnetic Resonance Imaging , Pulsatile Flow , Humans , Female , Male , Cerebrovascular Circulation/physiology , Magnetic Resonance Imaging/methods , Aged , Middle Aged , Brain/diagnostic imaging , Brain/physiology , Brain/blood supply , Pulse Wave Analysis/methods , Carotid Artery, Internal/diagnostic imaging , Carotid Artery, Internal/physiology , Basilar Artery/diagnostic imaging , Basilar Artery/physiology , Adult
5.
Alzheimers Res Ther ; 16(1): 119, 2024 May 31.
Article in English | MEDLINE | ID: mdl-38822365

ABSTRACT

BACKGROUND: Autopsy work reported that neuronal density in the locus coeruleus (LC) provides neural reserve against cognitive decline in dementia. Recent neuroimaging and pharmacological studies reported that left frontoparietal network functional connectivity (LFPN-FC) confers resilience against beta-amyloid (Aß)-related cognitive decline in preclinical sporadic and autosomal dominant Alzheimer's disease (AD), as well as against LC-related cognitive changes. Given that the LFPN and the LC play important roles in attention, and attention deficits have been observed early in the disease process, we examined whether LFPN-FC and LC structural health attenuate attentional decline in the context of AD pathology. METHODS: 142 participants from the Harvard Aging Brain Study who underwent resting-state functional MRI, LC structural imaging, PiB(Aß)-PET, and up to 5 years of cognitive follow-ups were included (mean age = 74.5 ± 9.9 years, 89 women). Cross-sectional robust linear regression associated LC integrity (measured as the average of five continuous voxels with the highest intensities in the structural LC images) or LFPN-FC with Digit Symbol Substitution Test (DSST) performance at baseline. Longitudinal robust mixed effect analyses examined associations between DSST decline and (i) two-way interactions of baseline LC integrity (or LFPN-FC) and PiB or (ii) the three-way interaction of baseline LC integrity, LFPN-FC, and PiB. Baseline age, sex, and years of education were included as covariates. RESULTS: At baseline, lower LFPN-FC, but not LC integrity, was related to worse DSST performance. Longitudinally, lower baseline LC integrity was associated with a faster DSST decline, especially at PiB > 10.38 CL. Lower baseline LFPN-FC was associated with a steeper decline on the DSST but independent of PiB. At elevated PiB levels (> 46 CL), higher baseline LFPN-FC was associated with an attenuated decline on the DSST, despite the presence of lower LC integrity. CONCLUSIONS: Our findings demonstrate that the LC can provide resilience against Aß-related attention decline. However, when Aß accumulates and the LC's resources may be depleted, the functioning of cortical target regions of the LC, such as the LFPN-FC, can provide additional resilience to sustain attentional performance in preclinical AD. These results provide critical insights into the neural correlates contributing to individual variability at risk versus resilience against Aß-related cognitive decline.


Subject(s)
Alzheimer Disease , Locus Coeruleus , Magnetic Resonance Imaging , Parietal Lobe , Humans , Female , Male , Alzheimer Disease/diagnostic imaging , Alzheimer Disease/psychology , Alzheimer Disease/physiopathology , Aged , Locus Coeruleus/diagnostic imaging , Locus Coeruleus/pathology , Magnetic Resonance Imaging/methods , Parietal Lobe/diagnostic imaging , Aged, 80 and over , Attention/physiology , Frontal Lobe/diagnostic imaging , Frontal Lobe/physiopathology , Positron-Emission Tomography , Cross-Sectional Studies , Neural Pathways/diagnostic imaging , Neural Pathways/physiopathology , Cognitive Dysfunction/diagnostic imaging , Cognitive Dysfunction/physiopathology , Cognitive Dysfunction/psychology , Neuropsychological Tests
7.
Neurosurg Focus ; 56(6): E10, 2024 Jun.
Article in English | MEDLINE | ID: mdl-38823056

ABSTRACT

OBJECTIVE: Hoffmann's sign testing is a commonly used physical examination in clinical practice for patients with cervical spondylotic myelopathy (CSM). However, the pathophysiological mechanisms underlying its occurrence and development have not been thoroughly investigated. Therefore, the present study aimed to explore whether a positive Hoffmann's sign (PHS) in CSM patients is associated with spinal cord and brain remodeling and to identify potential neuroimaging biomarkers with diagnostic value. METHODS: Seventy-six patients with CSM and 40 sex- and age-matched healthy controls (HCs) underwent multimodal MRI. Based on the results of the Hoffmann's sign examination, patients were divided into two groups: those with a PHS (n = 38) and those with a negative Hoffmann's sign (NHS; n = 38). Quantification of spinal cord and brain structural and functional parameters of the participants was performed using various methods, including functional connectivity analysis, voxel-based morphometry, and atlas-based analysis based on functional MRI and structural MRI data. Furthermore, this study conducted a correlation analysis between neuroimaging metrics and neurological function and utilized a support vector machine (SVM) algorithm for the classification of PHS and NHS. RESULTS: In comparison with the NHS and HC groups, PHS patients exhibited significant reductions in the cross-sectional area and fractional anisotropy (FA) of the lateral corticospinal tract (CST), reticulospinal tract (RST), and fasciculus cuneatus, concomitant with bilateral reductions in the volume of the lateral pallidum. The functional connectivity analysis indicated a reduction in functional connectivity between the left lateral pallidum and the right angular gyrus in the PHS group. The correlation analysis indicated a significant positive association between the CST and RST FA and the volume of the left lateral pallidum in PHS patients. Furthermore, all three variables exhibited a positive correlation with the patients' motor function. Finally, using multimodal neuroimaging metrics in conjunction with the SVM algorithm, PHS and NHS were classified with an accuracy rate of 85.53%. CONCLUSIONS: This research revealed a correlation between structural damage to the pallidum and RST and the presence of Hoffmann's sign as well as the motor function in patients with CSM. Features based on neuroimaging indicators have the potential to serve as biomarkers for assessing the extent of neuronal damage in CSM patients.


Subject(s)
Magnetic Resonance Imaging , Neuroimaging , Spinal Cord Diseases , Spondylosis , Humans , Male , Female , Middle Aged , Spondylosis/diagnostic imaging , Neuroimaging/methods , Spinal Cord Diseases/diagnostic imaging , Magnetic Resonance Imaging/methods , Aged , Adult , Cervical Vertebrae/diagnostic imaging
8.
Mol Biol Rep ; 51(1): 714, 2024 Jun 01.
Article in English | MEDLINE | ID: mdl-38824264

ABSTRACT

BACKGROUND: NOTCH3 variants are known to be linked to cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL). However, some null NOTCH3 variants with homozygous inheritance cause neurological symptoms distinct from CADASIL. The aim of this study was to expand the clinical spectrum of this distinct condition and provide further evidence of its autosomal recessive inheritance. METHODS AND RESULTS: Whole exome sequencing (WES) was performed on a proband who exhibited livedo racemosa, ataxia, cognitive decline, seizures, and MRI white matter abnormalities without anterior temporal pole lesions. Segregation analysis was conducted with Sanger sequencing. WES of the proband identified a novel homozygous NOTCH3 null variant (c.2984delC). The consanguineous parents were confirmed as heterozygous variant carriers. In addition, three heterozygous NOTCH3 null variants were reported as incidental findings in three unrelated cases analyzed in our center. CONCLUSION: The findings of this study suggest an autosomal recessive inheritance pattern in this early-onset leukoencephalopathy, in contrast to CADASIL's dominant gain-of-function mechanism; which is a clear example of genotype-phenotype correlation. Comprehensive genetic analysis provides valuable insights into disease mechanisms and facilitates diagnosis and family planning for NOTCH3-associated neurological disorders.


Subject(s)
Exome Sequencing , Genes, Recessive , Pedigree , Phenotype , Receptor, Notch3 , Humans , Receptor, Notch3/genetics , Male , Female , Exome Sequencing/methods , Genes, Recessive/genetics , Adult , Genetic Association Studies , CADASIL/genetics , Magnetic Resonance Imaging/methods , Alleles , Homozygote , Consanguinity , Loss of Function Mutation/genetics , Mutation/genetics , Heterozygote
9.
BMC Musculoskelet Disord ; 25(1): 428, 2024 Jun 01.
Article in English | MEDLINE | ID: mdl-38824518

ABSTRACT

OBJECTIVE: To develop an AI-assisted MRI model to identify surgical target areas in pediatric hip and periarticular infections. METHODS: A retrospective study was conducted on the pediatric patients with hip and periarticular infections who underwent Magnetic Resonance Imaging(MRI)examinations from January 2010 to January 2023 in three hospitals in China. A total of 7970 axial Short Tau Inversion Recovery (STIR) images were selected, and the corresponding regions of osteomyelitis (label 1) and abscess (label 2) were labeled using the Labelme software. The images were randomly divided into training group, validation group, and test group at a ratio of 7:2:1. A Mask R-CNN model was constructed and optimized, and the performance of identifying label 1 and label 2 was evaluated using receiver operating characteristic (ROC) curves. Calculation of the average time it took for the model and specialists to process an image in the test group. Comparison of the accuracy of the model in the interpretation of MRI images with four orthopaedic surgeons, with statistical significance set at P < 0.05. RESULTS: A total of 275 patients were enrolled, comprising 197 males and 78 females, with an average age of 7.10 ± 3.59 years, ranging from 0.00 to 14.00 years. The area under curve (AUC), accuracy, sensitivity, specificity, precision, and F1 score for the model to identify label 1 were 0.810, 0.976, 0.995, 0.969, 0.922, and 0.957, respectively. The AUC, accuracy, sensitivity, specificity, precision, and F1 score for the model to identify label 2 were 0.890, 0.957, 0.969, 0.915, 0.976, and 0.972, respectively. The model demonstrated a significant speed advantage, taking only 0.2 s to process an image compared to average 10 s required by the specialists. The model identified osteomyelitis with an accuracy of 0.976 and abscess with an accuracy of 0.957, both statistically better than the four orthopaedic surgeons, P < 0.05. CONCLUSION: The Mask R-CNN model is reliable for identifying surgical target areas in pediatric hip and periarticular infections, offering a more convenient and rapid option. It can assist unexperienced physicians in pre-treatment assessments, reducing the risk of missed and misdiagnosis.


Subject(s)
Magnetic Resonance Imaging , Osteomyelitis , Humans , Male , Female , Magnetic Resonance Imaging/methods , Child , Retrospective Studies , Adolescent , Osteomyelitis/diagnostic imaging , Child, Preschool , Infant , Hip Joint/diagnostic imaging , Hip Joint/surgery , Hip Joint/pathology , China , Abscess/diagnostic imaging , Abscess/surgery , ROC Curve
10.
BMC Vet Res ; 20(1): 237, 2024 Jun 01.
Article in English | MEDLINE | ID: mdl-38824556

ABSTRACT

BACKGROUND: Dromedaries' normal heart architecture and size have not been adequately examined utilizing magnetic resonance imaging (MRI) and topographic anatomy. RESULT: we aimed to investigate the regular appearance of the heart and its dimensions, using MRI and cross-sectional anatomy, in mature Arabian one-humped camels (Camelus dromedarius). We also analyzed hematological and cardiac biochemical markers. MRI scans were conducted on twelve camel heart cadavers using a closed 1.5-Tesla magnet with fast spin echo (FSE) weighted sequences. Subsequently, the hearts were cross-sectionally sliced. Additionally, hematobiochemical studies were conducted on ten mature live camels. The study analyzed standard cardiac dimensions including HL, BW, RA, LA, RV, LV, IVS, LAD, RAD, RVD, AoD, TCVD, and MVD. The results showed a strong positive correlation between the cardiac dimensions obtained from both gross analysis and MR images, with no significant difference between them. On both gross and MRI images, the usual structures of the heart were identified and labeled. Along with the cardiac markers (creatine kinase and troponin), the average hematological values and standard biochemical parameters were also described. CONCLUSION: According to what we know, this investigation demonstrates, for the first time the typical heart structures and dimensions of the heart in dromedaries, and it could serve as a basis for diagnosing cardiac disorders in these animals.


Subject(s)
Camelus , Heart , Magnetic Resonance Imaging , Animals , Camelus/anatomy & histology , Magnetic Resonance Imaging/veterinary , Heart/anatomy & histology , Heart/diagnostic imaging , Male , Female , Creatine Kinase/blood
12.
Proc Natl Acad Sci U S A ; 121(23): e2318641121, 2024 Jun 04.
Article in English | MEDLINE | ID: mdl-38814872

ABSTRACT

A balanced excitation-inhibition ratio (E/I ratio) is critical for healthy brain function. Normative development of cortex-wide E/I ratio remains unknown. Here, we noninvasively estimate a putative marker of whole-cortex E/I ratio by fitting a large-scale biophysically plausible circuit model to resting-state functional MRI (fMRI) data. We first confirm that our model generates realistic brain dynamics in the Human Connectome Project. Next, we show that the estimated E/I ratio marker is sensitive to the gamma-aminobutyric acid (GABA) agonist benzodiazepine alprazolam during fMRI. Alprazolam-induced E/I changes are spatially consistent with positron emission tomography measurement of benzodiazepine receptor density. We then investigate the relationship between the E/I ratio marker and neurodevelopment. We find that the E/I ratio marker declines heterogeneously across the cerebral cortex during youth, with the greatest reduction occurring in sensorimotor systems relative to association systems. Importantly, among children with the same chronological age, a lower E/I ratio marker (especially in the association cortex) is linked to better cognitive performance. This result is replicated across North American (8.2 to 23.0 y old) and Asian (7.2 to 7.9 y old) cohorts, suggesting that a more mature E/I ratio indexes improved cognition during normative development. Overall, our findings open the door to studying how disrupted E/I trajectories may lead to cognitive dysfunction in psychopathology that emerges during youth.


Subject(s)
Cerebral Cortex , Cognition , Magnetic Resonance Imaging , Humans , Cognition/physiology , Cognition/drug effects , Cerebral Cortex/diagnostic imaging , Cerebral Cortex/growth & development , Cerebral Cortex/metabolism , Cerebral Cortex/drug effects , Cerebral Cortex/physiology , Male , Magnetic Resonance Imaging/methods , Female , Adolescent , Child , Connectome/methods , Alprazolam/pharmacology , Receptors, GABA-A/metabolism , Young Adult
13.
Front Immunol ; 15: 1388667, 2024.
Article in English | MEDLINE | ID: mdl-38799430

ABSTRACT

Cerebellar ataxia is an uncommon and atypical manifestation of anti-N-methyl-D-aspartate receptor (NMDAR) encephalitis, often accompanied by seizures, psychiatric symptoms, and cognitive deficits. Previous cases of isolated brainstem-cerebellar symptoms in patients with anti-NMDAR encephalitis have not been documented. This report presents a case of anti-NMDAR encephalitis in which the patient exhibited cerebellar ataxia, nystagmus, diplopia, positive bilateral pathological signs, and hemiparesthesia with no other accompanying symptoms or signs. The presence of positive CSF anti-NMDAR antibodies further supports the diagnosis. Other autoantibodies were excluded through the use of cell-based assays. Immunotherapy was subsequently administered, leading to a gradual recovery of the patient.


Subject(s)
Anti-N-Methyl-D-Aspartate Receptor Encephalitis , Autoantibodies , Brain Stem , Humans , Anti-N-Methyl-D-Aspartate Receptor Encephalitis/diagnosis , Brain Stem/pathology , Autoantibodies/immunology , Autoantibodies/cerebrospinal fluid , Autoantibodies/blood , Female , Cerebellar Ataxia/etiology , Cerebellar Ataxia/diagnosis , Cerebellar Ataxia/immunology , Cerebellum/pathology , Cerebellum/diagnostic imaging , Receptors, N-Methyl-D-Aspartate/immunology , Adult , Immunotherapy , Male , Magnetic Resonance Imaging
16.
Taiwan J Obstet Gynecol ; 63(3): 387-390, 2024 May.
Article in English | MEDLINE | ID: mdl-38802203

ABSTRACT

OBJECTIVE: We present perinatal imaging findings of a fetus with Pfeiffer syndrome and a heterozygous c.1019A>G, p.Tyr340Cys (Y340C) mutation in FGFR2 presenting a cloverleaf skull, craniosynostosis and short limbs on prenatal ultrasound mimicking thanatophoric dysplasia type II (TD2). CASE REPORT: A 37-year-old, gravida 2, para 1, woman underwent amniocentesis at 17 weeks of gestation because of advanced maternal age. Amniocentesis revealed a karyotype of 46,XY. However, craniofacial anomaly was found on prenatal ultrasound at 21 weeks of gestation, which showed a cloverleaf skull with severe craniosynostosis and relatively short straight long bones. Fetal magnetic resonance imaging (MRI) analysis at 22 weeks of gestation showed a cloverleaf skull, proptosis and relatively shallowing of the sylvian fissures. Prenatal ultrasound at 24 weeks of gestation showed a fetus with a cloverleaf skull with a biparietal diameter (BPD) of 6.16 cm (equivalent to 24 weeks), an abdominal circumference (AC) of 18.89 cm (equivalent to 24 weeks) and a femur length (FL) of 3.65 cm (equivalent to 21 weeks). A tentative diagnosis of TD2 was made. The pregnancy was subsequently terminated, and a 928-g malformed fetus was delivered with severe craniosynostosis, proptosis, midface retrusion, a cloverleaf skull, broad thumbs and broad big toes. The broad thumbs were medially deviated. Whole body X-ray showed a cloverleaf skull and straight long bones. However, molecular analysis of FGFR3 on the fetus revealed no mutation in the target regions. Subsequent whole exome sequencing (WES) on the DNA extracted from umbilical cord revealed a heterozygous c.1019A>G, p.Tyr340Cys (Y340C) mutation in the FGFR2 gene. CONCLUSION: Fetuses with a Y340C mutation in FGFR2 may present a cloverleaf skull on prenatal ultrasound, and WES is useful for a rapid differential diagnosis of Pfeiffer syndrome from TD2 under such a circumstance.


Subject(s)
Acrocephalosyndactylia , Craniosynostoses , Receptor, Fibroblast Growth Factor, Type 2 , Thanatophoric Dysplasia , Ultrasonography, Prenatal , Humans , Female , Acrocephalosyndactylia/genetics , Acrocephalosyndactylia/diagnostic imaging , Acrocephalosyndactylia/diagnosis , Pregnancy , Adult , Receptor, Fibroblast Growth Factor, Type 2/genetics , Craniosynostoses/genetics , Craniosynostoses/diagnostic imaging , Craniosynostoses/diagnosis , Thanatophoric Dysplasia/genetics , Thanatophoric Dysplasia/diagnostic imaging , Mutation , Diagnosis, Differential , Magnetic Resonance Imaging , Heterozygote , Infant, Newborn , Skull/diagnostic imaging , Skull/abnormalities , Skull/embryology
17.
Transl Psychiatry ; 14(1): 211, 2024 May 27.
Article in English | MEDLINE | ID: mdl-38802372

ABSTRACT

Lamotrigine is an effective mood stabiliser, largely used for the management and prevention of depression in bipolar disorder. The neuropsychological mechanisms by which lamotrigine acts to relieve symptoms as well as its neural effects on emotional processing remain unclear. The primary objective of this current study was to investigate the impact of an acute dose of lamotrigine on the neural response to a well-characterised fMRI task probing implicit emotional processing relevant to negative bias. 31 healthy participants were administered either a single dose of lamotrigine (300 mg, n = 14) or placebo (n = 17) in a randomized, double-blind design. Inside the 3 T MRI scanner, participants completed a covert emotional faces gender discrimination task. Brain activations showing significant group differences were identified using voxel-wise general linear model (GLM) nonparametric permutation testing, with threshold free cluster enhancement (TFCE) and a family wise error (FWE)-corrected cluster significance threshold of p < 0.05. Participants receiving lamotrigine were more accurate at identifying the gender of fearful (but not happy or angry) faces. A network of regions associated with emotional processing, including amygdala, insula, and the anterior cingulate cortex (ACC), was significantly less activated in the lamotrigine group compared to the placebo group across emotional facial expressions. A single dose of lamotrigine reduced activation in limbic areas in response to faces with both positive and negative expressions, suggesting a valence-independent effect. However, at a behavioural level lamotrigine appeared to reduce the distracting effect of fear on face discrimination. Such effects may be relevant to the mood stabilisation effects of lamotrigine.


Subject(s)
Emotions , Facial Expression , Healthy Volunteers , Lamotrigine , Magnetic Resonance Imaging , Triazines , Humans , Lamotrigine/pharmacology , Lamotrigine/administration & dosage , Male , Female , Adult , Double-Blind Method , Emotions/drug effects , Triazines/pharmacology , Triazines/administration & dosage , Young Adult , Brain/drug effects , Brain/diagnostic imaging , Facial Recognition/drug effects , Gyrus Cinguli/drug effects , Gyrus Cinguli/diagnostic imaging , Amygdala/drug effects , Amygdala/diagnostic imaging , Antimanic Agents/pharmacology , Antimanic Agents/administration & dosage
18.
Sci Rep ; 14(1): 12486, 2024 05 31.
Article in English | MEDLINE | ID: mdl-38816506

ABSTRACT

Affections of the central nervous system (CNS) rarely occur in Lyme neuroborreliosis (LNB). CNS manifestations can have residual neurological symptoms despite antibiotic treatment. We explored the spectrum of CNS affections in patients with LNB in a tertiary care center in a region endemic for Lyme borreliosis. We retrospectively included patients treated at a tertiary care center from January 2020-December 2021 fulfilling the case criteria for LNB as stated in the current German guideline on LNB. Clinical data, cerebrospinal fluid (CSF) findings and MRI imaging were collected. We included 35 patients with LNB, 24 with early manifestations and 11 with CNS-LNB. CNS-LNB patients had encephalomyelitis (n = 6) or cerebral vasculitis (n = 5). Patients with early LNB and CNS-LNB differed regarding albumin CSF/serum quotient and total protein in CSF. Duration from onset of symptoms until diagnosis was statistically significantly longer in patients with encephalomyelitis. MRI findings were heterogeneous and showed longitudinal extensive myelitis, perimedullar leptomeningeal enhancement, pontomesencephalic lesions or cerebral vasculitis. CNS-LNB can present with a variety of clinical syndromes and MRI changes. No clear pattern of MRI findings in CNS-LNB could be identified. The role of MRI consists in ruling out other causes of neurological symptoms.


Subject(s)
Lyme Neuroborreliosis , Magnetic Resonance Imaging , Humans , Lyme Neuroborreliosis/diagnostic imaging , Lyme Neuroborreliosis/cerebrospinal fluid , Lyme Neuroborreliosis/diagnosis , Magnetic Resonance Imaging/methods , Female , Male , Middle Aged , Adult , Retrospective Studies , Aged , Central Nervous System/diagnostic imaging , Central Nervous System/pathology , Encephalomyelitis/diagnostic imaging , Encephalomyelitis/cerebrospinal fluid , Young Adult , Vasculitis, Central Nervous System/diagnostic imaging
19.
Commun Biol ; 7(1): 656, 2024 May 28.
Article in English | MEDLINE | ID: mdl-38806652

ABSTRACT

Associations between brain and obesity are bidirectional: changes in brain structure and function underpin over-eating, while chronic adiposity leads to brain atrophy. Investigating brain-obesity interactions across the lifespan can help better understand these relationships. This study explores the interaction between obesity and cortical morphometry in children, young adults, adults, and older adults. We also investigate the genetic, neurochemical, and cognitive correlates of the brain-obesity associations. Our findings reveal a pattern of lower cortical thickness in fronto-temporal brain regions associated with obesity across all age cohorts and varying age-dependent patterns in the remaining brain regions. In adults and older adults, obesity correlates with neurochemical changes and expression of inflammatory and mitochondrial genes. In children and older adults, adiposity is associated with modifications in brain regions involved in emotional and attentional processes. Thus, obesity might originate from cognitive changes during early adolescence, leading to neurodegeneration in later life through mitochondrial and inflammatory mechanisms.


Subject(s)
Brain , Obesity , Humans , Obesity/physiopathology , Male , Female , Adult , Child , Young Adult , Adolescent , Aged , Brain/pathology , Middle Aged , Longevity , Magnetic Resonance Imaging , Cognition
20.
BMC Ophthalmol ; 24(1): 225, 2024 May 28.
Article in English | MEDLINE | ID: mdl-38807037

ABSTRACT

BACKGROUND: We describe a case in which bilateral optic nerve infiltration and leukemic retinopathy were the initial signs of disease relapse in a patient with Philadelphia chromosome-positive acute lymphoblastic leukemia (Ph+-ALL) with central nervous system (CNS) involvement. CASE PRESENTATION: A 65-year-old Asian female with Ph+-ALL in complete remission presented at our institution with symptoms of visual disturbance, central scotoma and pain with eye movement in both eyes for a 1-month duration. Ophthalmic examination revealed remarkable optic disc swelling with multiple flame-shaped peripapillary hemorrhages, retinal venous dilation and retinal hemorrhages in both eyes. She was subsequently referred to the treating oncologist and diagnosed with Ph+-ALL relapse with multiple relapsed diseases involving the bone marrow and CNS. After intrathecal (IT) therapy, her visual acuity dramatically improved, and her leukemic infiltrates decreased. CONCLUSIONS: To the best of our knowledge, this is the first case report of ALL relapse with CNS involvement presenting as bilateral optic nerve infiltration and leukemic retinopathy in an adult. Hence, we highlight the priority and sensitivity of ophthalmic examinations, as they are noninvasive methods for detecting leukemia relapse.


Subject(s)
Leukemic Infiltration , Precursor Cell Lymphoblastic Leukemia-Lymphoma , Humans , Female , Aged , Leukemic Infiltration/diagnosis , Precursor Cell Lymphoblastic Leukemia-Lymphoma/diagnosis , Precursor Cell Lymphoblastic Leukemia-Lymphoma/drug therapy , Precursor Cell Lymphoblastic Leukemia-Lymphoma/complications , Optic Nerve/pathology , Optic Nerve/diagnostic imaging , Retinal Diseases/diagnosis , Retinal Diseases/etiology , Magnetic Resonance Imaging , Neoplasm Recurrence, Local , Visual Acuity/physiology
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