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Twin Research and Human Genetics : the... May 2024An overview of circumstances in which twins take the place of their co-twin is presented. Various explanations and speculations are proposed for understanding twins'...
Twins Standing in for Co-Twins: Explanation and Speculation/Twin Research Reviews: Single v. Multiple Embryo Transfer; Neurimaging of Twins with Periventricular Nodular Heterotopia; Twin Dietary Study; New Hungarian Text on Twins/Human Interest: Valedictorian and Salutatorian Twins; Twin Mother at...
An overview of circumstances in which twins take the place of their co-twin is presented. Various explanations and speculations are proposed for understanding twins' willingness to do so in certain situations. This section is followed by reviews of timely twin research, namely single versus multiple embryo transfer; neurimaging of twins with periventricular nodular heterotopia; a twin dietary comparison; and a new book of twin-related readings from Hungary. The final portion of this article concerns human interest stories that both inform and entertain. They involve valedictorian and salutatorian twins; a mother delivering twins at age seventy; twins reunited by TikTok; a new film about twins with selective mutism; and twins becoming doctors.
PubMed: 38738462
DOI: 10.1017/thg.2024.22 -
Pediatric Neurology May 2024Postoperative pediatric cerebellar mutism syndrome (CMS) may occur following a process affecting the posterior cranial fossa. Recent evidence demonstrates disabling and...
BACKGROUND
Postoperative pediatric cerebellar mutism syndrome (CMS) may occur following a process affecting the posterior cranial fossa. Recent evidence demonstrates disabling and potentially lasting motor components of this syndrome, including ataxia, hemiparesis, and oculomotor dysfunction. These impairments may contribute to vestibular deficits.
METHODS
This case series contributes data to quantify vestibular dysfunction in postoperative CMS. The pair consisted of one female and one male.
RESULTS
Vestibular testing demonstrated both peripheral and central dysfunction.
CONCLUSIONS
Given these findings, a thorough vestibular assessment may be indicated as part of a comprehensive evaluation following a postoperative CMS diagnosis. Further research is needed to understand the pathophysiology, treatment, and long-term outcomes of postoperative pediatric CMS.
Topics: Child; Humans; Male; Female; Mutism; Cerebellar Neoplasms; Postoperative Complications; Cerebellar Diseases; Cranial Fossa, Posterior; Syndrome
PubMed: 38447508
DOI: 10.1016/j.pediatrneurol.2024.01.024 -
European Journal of Radiology Jun 2024Survivors of medulloblastoma face a range of challenges after treatment, involving behavioural, cognitive, language and motor skills. Post-treatment outcomes are... (Review)
Review
PURPOSE
Survivors of medulloblastoma face a range of challenges after treatment, involving behavioural, cognitive, language and motor skills. Post-treatment outcomes are associated with structural changes within the brain resulting from both the tumour and the treatment. Diffusion magnetic resonance imaging (MRI) has been used to investigate the microstructure of the brain. In this review, we aim to summarise the literature on diffusion MRI in patients treated for medulloblastoma and discuss future directions on how diffusion imaging can be used to improve patient quality.
METHOD
This review summarises the current literature on medulloblastoma in children, focusing on the impact of both the tumour and its treatment on brain microstructure. We review studies where diffusion MRI has been correlated with either treatment characteristics or cognitive outcomes. We discuss the role diffusion MRI has taken in understanding the relationship between microstructural damage and cognitive and behavioural deficits.
RESULTS
We identified 35 studies that analysed diffusion MRI changes in patients treated for medulloblastoma. The majority of these studies found significant group differences in measures of brain microstructure between patients and controls, and some of these studies showed associations between microstructure and neurocognitive outcomes, which could be influenced by patient characteristics (e.g. age), treatment, radiation dose and treatment type.
CONCLUSIONS
In future, studies would benefit from being able to separate microstructural white matter damage caused by the tumour, tumour-related complications and treatment. Additionally, advanced diffusion modelling methods can be explored to understand and describe microstructural changes to white matter.
PubMed: 38901074
DOI: 10.1016/j.ejrad.2024.111562 -
Brain & NeuroRehabilitation Nov 2023Delayed encephalopathy (DE) following acute carbon monoxide (CO) poisoning is characterized by a wide range of neurological symptoms, including akinetic mutism,...
Delayed encephalopathy (DE) following acute carbon monoxide (CO) poisoning is characterized by a wide range of neurological symptoms, including akinetic mutism, cognitive impairment, and gait disturbances. Herein, we reported the case of a 61-year-old patient with DE after acute CO poisoning, who displayed heterogeneous patterns of cortical and subcortical structural integrity on diffusion tensor imaging (DTI). Four distinct patterns of diffusion tensor metrics (fractional anisotropy [FA] and mean diffusivity [MD]) were observed in the patient compared to age-matched controls (a decrease in FA and an increase in MD, a decrease in FA only, an increase in MD only, and an increase in FA and MD). This study revealed heterogeneous patterns of cortical and subcortical damage associated with DE after CO poisoning, contributing to a deeper understanding of the diverse clinical symptoms observed in this patient.
PubMed: 38047103
DOI: 10.12786/bn.2023.16.e34 -
Clinical Case Reports Jul 2024Creutzfeldt-Jakob disease is a neurodegenerative disorder caused by brain accumulation of a misfolded form of the cellular prion protein, whose diagnosis is challenging,...
KEY CLINICAL MESSAGE
Creutzfeldt-Jakob disease is a neurodegenerative disorder caused by brain accumulation of a misfolded form of the cellular prion protein, whose diagnosis is challenging, particularly in early stages, due to the variability and nonspecificity of the clinical and radiological features. 18F-fluorodeoxyglucose positron-emitted tomography has the potential to be considered a crucial investigation in these patients, revealing metabolic abnormalities earlier than the conventional neuroimaging analysis.
ABSTRACT
A 59-year-old man, the military officer, was referred to our Units for the onset of neurological symptoms rapidly evolving within a month, characterized by akinetic mutism, constructional apraxia, and disorders of spatial orientation. Brain 18F-fluorodeoxyglucose (18F-FDG) positron-emitted tomography (PET)/CT depicted an asymmetric hypometabolism in the left fronto-temporo-parietal cortex, as well as in the left thalamus and the right cerebellar hemisphere, while the glucose metabolism appears to be preserved in the somatosensory cortex and the basal ganglia. Laboratory routine analyses, cerebrospinal fluid routine, infective tests, electroencephalography (EEG), and brain magnetic resonance (MR) were all unremarkable. A positive RT-QuIC result on cerebro-spinal fluid (CSF) was subsequently shown, without any pathogenic gene mutations and, therefore, the result was consistent with a diagnosis of sporadic Creutzfeld-Jacob disease. The clinical evolution was quickly unfavorable, and the patient died about 4 months after hospital admission. FDG PET/computed tomography (CT) has the potential to be considered a crucial investigation in these patients, documenting metabolic changes long time before other diagnostic investigations such as CSF, EEG, brain CT, and brain MR, thus suggesting a greater sensitivity of glucose metabolic evaluation in the early stage of the disease in question.
PubMed: 38947537
DOI: 10.1002/ccr3.8974 -
Cureus Aug 2023A 55-year-old African American man who was found down by a friend nine hours after being last seen at the same place was brought to the emergency department (ED) with...
A 55-year-old African American man who was found down by a friend nine hours after being last seen at the same place was brought to the emergency department (ED) with encephalopathy, lactic acidosis, rhabdomyolysis, elevated troponin, acute kidney injury (AKI), and transaminitis. His urine drug screen (UDS) was positive for cocaine. Intravenous (IV) Narcan was given with minimal improvement in mental status. A computed tomography (CT) scan of the head and a CT scan of the cervical spine in the ED showed no acute findings. Due to hypoxia, the patient was eventually intubated. The patient also required a fasciotomy and eventually hyperbaric oxygen (HBO) therapy due to the left lower extremity wound. He was transferred to our facility for further care. Due to incomplete cognitive recovery, as the patient was oriented to self only, further neurological workup, including magnetic resonance imaging (MRI) of the brain, was obtained, which showed bilateral symmetric T2 FLAIR (Fluid attenuated inversion recovery) hyperintensity in the globus pallidus. The patient had slow and gradual deterioration with worsening encephalopathy, akinetic mutism, parkinsonian features, and seizures, which prompted further evaluation from neurology. The patient eventually underwent extensive workup, including a continuous video electroencephalogram (cvEEG), repeat MRI brain with and without contrast, lumbar puncture for cerebrospinal fluid (CSF) analysis, MRI brain with diffusion tensor imaging (DTI), and magnetic resonance spectroscopy (MRS). The patient was treated with multivitamin therapy and coenzyme Q10, but there was no significant benefit. We report a case of cocaine-induced leukoencephalopathy with findings like 'chasing the dragon encephalopathy' with a possible component of delayed post-hypoxic injury with underlying neuroinflammation.
PubMed: 37667711
DOI: 10.7759/cureus.42966 -
Hospital Pharmacy Oct 2023Catatonia is defined by the Diagnostic and Statistical Manual of Mental Disorders-fifth Edition (DSM-5) as the presence of 3 or more of the following symptoms:...
Catatonia is defined by the Diagnostic and Statistical Manual of Mental Disorders-fifth Edition (DSM-5) as the presence of 3 or more of the following symptoms: catalepsy, waxy flexibility, stupor, agitation, mutism, negativism, posturing, mannerisms, stereotypies, grimacing, echolalia, and echopraxia. Screening instruments, such as the Bush Francis Catatonia Rating Scale (BFCRS) or the Northoff Catatonia Scale, are utilized to screen and track the severity and course of symptoms. The primary pharmacologic treatment for catatonia is the lorazepam challenge test. Second-line pharmacologic therapies are indicated when patients have an insufficient response to benzodiazepines and electroconvulsive therapy (ECT). In this case report, we report a case of a geriatric patient given high-dose zolpidem as an alternative agent with cardiac contraindications to ECT.
PubMed: 37711409
DOI: 10.1177/00185787231161514 -
Journal of Neurosurgery Apr 2024The lateral aspect of the cerebellomesencephalic fissure frequently harbors vascular pathology and is a common surgical corridor used to access the pons tegmentum, as...
OBJECTIVE
The lateral aspect of the cerebellomesencephalic fissure frequently harbors vascular pathology and is a common surgical corridor used to access the pons tegmentum, as well as the cerebellum and its superior and middle peduncles. The quadrangular lobule of the cerebellum (QLC) represents an obstacle to reach these structures. The authors sought to analyze and compare exposure of the cerebellar interpeduncular region (CIPR) before and after QLC resection and provide a case series to evaluate its clinical applicability.
METHODS
Forty-two sides of human brainstems were prepared with Klingler's method and dissected. The exposure area before and after resection of the QLC was measured and statistically studied. A case series of 59 patients who underwent QLC resection for the treatment of CIPR lesions was presented and clinical outcomes were evaluated at 1-year follow-up.
RESULTS
The anteroposterior surgical corridor of the CIPR increased by 10.3 mm after resection of the QLC. The mean exposure areas were 42 mm2 before resection of the QLC and 159.6 mm2 after resection. In this series, ataxia, extrapyramidal syndrome, and akinetic mutism were found after surgery. However, all these cases resolved within 1 year of follow-up. Modified Rankin Scale score improved by 1 grade, on average.
CONCLUSIONS
QLC resection significantly increased the exposure area, mainly in the anteroposterior axis. This surgical strategy appears to be safe and may help the neurosurgeon when operating on the lateral aspect of the cerebellomesencephalic fissure.
Topics: Humans; Cerebellum; Neurosurgical Procedures; Brain Stem; Microsurgery; Craniotomy
PubMed: 38564813
DOI: 10.3171/2023.7.JNS222838 -
Journal of Magnetic Resonance Imaging :... Dec 2023Current studies have indicated that tumoral morphologic features are associated with cerebellar mutism syndrome (CMS), but the radiomics application in CMS is scarce.
BACKGROUND
Current studies have indicated that tumoral morphologic features are associated with cerebellar mutism syndrome (CMS), but the radiomics application in CMS is scarce.
PURPOSE
To develop a model for CMS discrimination based on multiparametric MRI radiomics in patients with posterior fossa tumors.
STUDY TYPE
Retrospective.
POPULATION
A total of 218 patients (males 132, females 86) with posterior fossa tumors, 169 of which were included in the MRI radiomics analysis. The MRI radiomics study cohort (169) was split into training (119) and testing (50) sets with a ratio of 7:3.
FIELD/SEQUENCE
All the MRI were acquired under 1.5/3.0 T scanners. T2-weighted image (T2W), T1-weighted (T1W), fluid attenuated inversion recovery (FLAIR), diffusion-weighted imaging (DWI).
ASSESSMENT
Apparent diffusion coefficient (ADC) maps were generated from DWI. Each MRI dataset generated 1561 radiomics characteristics. Feature selection was performed with univariable logistic analysis, correlation analysis, and least absolute shrinkage and selection operator (LASSO) penalized logistic regression. Significant clinical features were selected with multivariable logistic analysis and used to constructed the clinical model. Radiomics models (based on T1W, T2W, FLAIR, DWI, ADC) were constructed with selected radiomics features. The mix model was based on the multiparametric MRI radiomics features.
STATISTICAL TEST
Multivariable logistic analysis was utilized during clinical features selection. Models' performance was evaluated using the area under the receiver operating characteristic (AUC) curve. Interobserver variability was assessed using Cohen's kappa. Significant threshold was set as P < 0.05.
RESULTS
Sex (aOR = 3.72), tumor location (aOR = 2.81), hydrocephalus (aOR = 2.14), and tumor texture (aOR = 5.08) were significant features in the multivariable analysis and were used to construct the clinical model (AUC = 0.79); totally, 33 radiomics features were selected to construct radiomics models (AUC = 0.63-0.93). Seven of the 33 radiomics features were selected for the mix model (AUC = 0.93).
DATA CONCLUSION
Multiparametric MRI radiomics may be better at predicting CMS than single-parameter MRI models and clinical model.
EVIDENCE LEVEL
4.
TECHNICAL EFFICACY
2.
Topics: Male; Female; Humans; Child; Retrospective Studies; Mutism; Magnetic Resonance Imaging; Brain Neoplasms; Infratentorial Neoplasms
PubMed: 37009777
DOI: 10.1002/jmri.28705 -
European Child & Adolescent Psychiatry Mar 2024Understanding the symptoms of a mental disorder is essential for accurate diagnosis or selecting appropriate treatment targets. Despite this, there is a surprising lack...
Understanding the symptoms of a mental disorder is essential for accurate diagnosis or selecting appropriate treatment targets. Despite this, there is a surprising lack of systematic research on the symptoms of selective mutism (SM). While the DSM-5 defines failure to speak as the only core symptom of SM, sparse research suggests that children with SM may experience additional symptoms. Previous studies have been limited in their identification of symptoms of SM, either by using a predefined set of symptoms or by only asking for anxiety-specific symptoms. This may have resulted in important symptoms being overlooked. In this study, we provided n = 86 parents of children and adolescents with SM (3-18 years) with a symptom definition appropriate for the target group. Additionally, parents were asked an open-ended question about any other symptoms they had observed in their children, beyond the failure to speak. The symptoms reported were categorized using qualitative content analysis (QCA) and examined for frequency and association with symptom severity. Ten different symptom categories were identified, with fear, freezing, and avoidance/security behaviors being the most prevalent. On average, parents reported M = 4.74 (SD = 2.37) symptoms from different symptom categories. Only fear was found to be related to symptom severity of SM. As the findings suggest that SM encompasses various symptoms beyond failure to speak, a more sophisticated understanding of SM as a mental disorder with multiple symptoms seems essential. The clinical implications of this are discussed in further detail.
PubMed: 38536490
DOI: 10.1007/s00787-024-02415-9