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Journal of Neurovirology Oct 2023Intensive immunosuppression has enabled liver transplantation even in recipients with preformed donor-specific antibodies (DSA), an independent risk factor for graft...
Intensive immunosuppression has enabled liver transplantation even in recipients with preformed donor-specific antibodies (DSA), an independent risk factor for graft rejection. However, these recipients may also be at high risk of progressive multifocal encephalopathy (PML) due to the comorbid immunosuppressed status. A 58-year-old woman presented with self-limited focal-to-bilateral tonic-clonic seizures 9 months after liver transplantation. She was desensitized using rituximab and plasma exchange before transplantation and was subsequently treated with steroids, tacrolimus, and everolimus after transplantation for her preformed DSA. Neurological examination revealed mild acalculia and agraphia. Cranial MRI showed asymmetric, cortex-sparing white matter lesions that increased over a week in the left frontal, left parietal, and right parieto-occipital lobes. Polymerase chain reaction (PCR) of the cerebrospinal fluid for the JC supported the diagnosis of PML. Immune reconstitution by reducing the immunosuppressant dose stopped lesion expansion, and PCR of the cerebrospinal fluid for the JC virus became negative. Graft rejection occurred 2 months after immune reconstitution, requiring readjustment of immunosuppressants. Forty-eight months after PML onset, the patient lived at home without disabling deficits. Intensive immunosuppression may predispose recipients to PML after liver transplantation with preformed DSA. Early immune reconstitution and careful monitoring of graft rejection may help improve outcomes.
Topics: Humans; Female; Middle Aged; Leukoencephalopathy, Progressive Multifocal; Liver Transplantation; Living Donors; JC Virus; Immunosuppressive Agents
PubMed: 37668873
DOI: 10.1007/s13365-023-01171-x -
Medicina (Kaunas, Lithuania) Aug 2023: Specific Learning Disorder (SLD) is a complex neurobiological disorder characterized by a persistent difficult in reading (dyslexia), written expression (dysgraphia),...
: Specific Learning Disorder (SLD) is a complex neurobiological disorder characterized by a persistent difficult in reading (dyslexia), written expression (dysgraphia), and mathematics (dyscalculia). The hereditary and genetic component is one of the underlying causes of SLD, but the relationship between genes and the environment should be considered. Several genetic studies were performed in different populations to identify causative genes. : Here, we show the analysis of 9 multiplex families with at least 2 individuals diagnosed with SLD per family, with a total of 37 persons, 21 of whom are young subjects with SLD, by means of Next-Generation Sequencing (NGS) to identify possible causative mutations in a panel of 15 candidate genes: , , , , , , , , , , , , , , and . We detected, in eight families out nine, SNP variants in the , , , and genes, even if in silico analysis did not show any causative effect on this behavioral condition. In all cases, the mutation was transmitted by one of the two parents, thus excluding the case of de novo mutation. Moreover, the parent carrying the allelic variant transmitted to the children, in six out of seven families, reports language difficulties. : Although the present results cannot be considered conclusive due to the limited sample size, the identification of genetic variants in the above genes can provide input for further research on the same, as well as on other genes/mutations, to better understand the genetic basis of this disorder, and from this perspective, to better understand also the neuropsychological and social aspects connected to this disorder, which affects an increasing number of young people.
Topics: Child; Humans; Adolescent; Specific Learning Disorder; Nerve Tissue Proteins; Receptors, Immunologic; Alleles; High-Throughput Nucleotide Sequencing; Microtubule-Associated Proteins
PubMed: 37629793
DOI: 10.3390/medicina59081503 -
Cortex; a Journal Devoted To the Study... Sep 2023It has been suggested that Gerstmann's syndrome is the result of subcortical disconnection rather than emerging from damage of a multifunctional brain region within the...
It has been suggested that Gerstmann's syndrome is the result of subcortical disconnection rather than emerging from damage of a multifunctional brain region within the parietal lobe. However, patterns of white matter tract disconnection following parietal damage have been barely investigated. This single case study allows characterising Gerstmann's syndrome in terms of disconnected networks. We report the case of a left parietal patient affected by Gerstmann's tetrad: agraphia, acalculia, left/right orientation problems, and finger agnosia. Lesion mapping, atlas-based estimation of probability of disconnection, and DTI-based tractography revealed that the lesion was mainly located in the superior parietal lobule, and it caused disruption of both intraparietal tracts passing through the inferior parietal lobule (e.g., tracts connecting the angular, supramarginal, postcentral gyri, and the superior parietal lobule) and fronto-parietal long tracts (e.g., the superior longitudinal fasciculus). The lesion site appears to be located more superiorly as compared to the cerebral regions shown active by other studies during tasks impaired in the syndrome, and it reached the subcortical area potentially critical in the emergence of the syndrome, as hypothesised in previous studies. Importantly, the reconstruction of tracts connecting regions within the parietal lobe indicates that this critical subcortical area is mainly crossed by white matter tracts connecting the angular gyrus and the superior parietal lobule. Taken together, these findings suggest that this case study might be considered as empirical evidence of Gerstmann's tetrad caused by disconnection of intraparietal white matter tracts.
Topics: Humans; Gerstmann Syndrome; White Matter; Parietal Lobe; Brain; Agnosia
PubMed: 37478549
DOI: 10.1016/j.cortex.2023.05.016 -
Children (Basel, Switzerland) May 2023In Switzerland, psychomotor therapy (PMT) is a standard treatment for children with graphomotor impairments, but scientific evidence of its effectiveness is rare. To...
In Switzerland, psychomotor therapy (PMT) is a standard treatment for children with graphomotor impairments, but scientific evidence of its effectiveness is rare. To investigate the effectiveness of PMT, we conducted a randomised field trial (RFT). The sample consisted of 121 first and second graders with graphomotor impairments, some of whom met the criteria of developmental coordination disorder, while the remaining suffered from developmental dysgraphia. The treatments lasted over 5 months. Handwriting fluency and consistency were measured five times on a digitising tablet. All participating children completed a self-concept interview, and a standardised fine motor performance test twice. Psychomotor therapy significantly improved the fine motor skills of the therapy group compared to those of the waiting group. However, there was no evidence that the treated children improved more than the waiting children in terms of their graphomotor skills such as frequency, automaticity, and consistency of forming letters. Finally, the children of the therapy group showed partial improvements in their handwriting self-concept, while those of the waiting group children remained stable. This short-term RFT demonstrated the effectiveness of PMT in terms of fine motor skills and some aspects of the handwriting self-concept but showed no effects on handwriting fluency and consistency.
PubMed: 37371196
DOI: 10.3390/children10060964 -
Sensors (Basel, Switzerland) May 2023Handwriting learning disabilities, such as dysgraphia, have a serious negative impact on children's academic results, daily life and overall well-being. Early detection...
Handwriting learning disabilities, such as dysgraphia, have a serious negative impact on children's academic results, daily life and overall well-being. Early detection of dysgraphia facilitates an early start of targeted intervention. Several studies have investigated dysgraphia detection using machine learning algorithms with a digital tablet. However, these studies deployed classical machine learning algorithms with manual feature extraction and selection as well as binary classification: either dysgraphia or no dysgraphia. In this work, we investigated the fine grading of handwriting capabilities by predicting the SEMS score (between 0 and 12) with deep learning. Our approach provided a root-mean-square error of less than 1 with automatic instead of manual feature extraction and selection. Furthermore, the SensoGrip smart pen SensoGrip was used, i.e., a pen equipped with sensors to capture handwriting dynamics, instead of a tablet, enabling writing evaluation in more realistic scenarios.
Topics: Child; Humans; Deep Learning; Handwriting; Agraphia; Algorithms; Machine Learning
PubMed: 37299942
DOI: 10.3390/s23115215 -
Journal of Ayurveda and Integrative... 2023Domestically, gas geysers are used in developing countries like India to supply hot water in bathrooms. These are of low economic value, with no requirement of...
Domestically, gas geysers are used in developing countries like India to supply hot water in bathrooms. These are of low economic value, with no requirement of electricity and easy installation, hence they are high in demand. A female patient of 14 year visited to a private Ayurved clinic on 27/12/2021 with complaints of difficulty in dysgraphia, dyslexia, dysphonia and fall (sometimes) while walking on uneven and unknown pathway. Four years ago, the patient landed into a vegetative state and was bed ridden, her condition was further diagnosed as Gas Geyser Syndrome. Here an effort has been put forth to reveal the concept of ayurvedic management adopted in a survivor of Gas Geyser Syndrome which is found to be effective. In Ayurveda the symptoms of Acute Gas Geyser syndrome can be correlated with Visha (Toxins) and its vishalakshana (Toxicity symptoms) wherein Murcha (Unconsciousness) and Sanyasa (Stage of Coma) are seen. The long term side effects of Gas Geyser Syndrome can be correlated with Vatavyadhi (Neurological disorders) as the stages of the disease manifestation presents with more neurological deficits. Ayurvedic intervention with internal medications along with the panchakarma procedures in the treatment of Gas geyser syndrome exhibits encouraging results which were seen in improving her cognition, memory and essential skills like writing, verbal communication, thinking skills, use of technology in socializing with the community.
PubMed: 37271063
DOI: 10.1016/j.jaim.2023.100713 -
Movement Disorders Clinical Practice May 2023
PubMed: 37205257
DOI: 10.1002/mdc3.13721 -
Movement Disorders Clinical Practice May 2023
PubMed: 37205246
DOI: 10.1002/mdc3.13720 -
Brain & NeuroRehabilitation Mar 2023Gerstmann syndrome (GS) is a rare syndrome that occurs when there is a lesion of the dominant inferior parietal lobule (IPL), causing agraphia, acalculia, finger...
Gerstmann syndrome (GS) is a rare syndrome that occurs when there is a lesion of the dominant inferior parietal lobule (IPL), causing agraphia, acalculia, finger agnosia, and right-left disorientation. A 49-year-old right-handed male was diagnosed as GS after left parieto-occipital lobe hemorrhage. The patient showed mild anomic aphasia with agraphia in the language test and the neuropsychological test revealed acalculia, impaired right-left discrimination, and finger agnosia. In diffusion tensor tractography, the tracts of left superior longitudinal fasciculus (SLF), middle longitudinal fasciculus, U-fibers and posterior corpus callosum (CC) were disrupted around the left IPL. In addition, fractional anisotropy (FA) values were markedly decreased in left SLF, and posterior CC when compared to twelve healthy control subjects. Our clinical and neuroimaging findings support that GS is a disconnection syndrome caused by lesion in the white matter pathway surrounding IPL. In future, more studies of the correlation between the white matter disconnection and the development of GS including high quality imaging technique are needed.
PubMed: 37033002
DOI: 10.12786/bn.2023.16.e3