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Lin Chuang Er Bi Yan Hou Tou Jing Wai... Jan 2024CAPOS syndrome is an autosomal dominant neurological disorder caused by mutations in the gene. Initial symptoms, often fever-induced, include recurrent acute ataxic...
CAPOS syndrome is an autosomal dominant neurological disorder caused by mutations in the gene. Initial symptoms, often fever-induced, include recurrent acute ataxic encephalopathy in childhood, featuring cerebellar ataxia, optic atrophy, areflflexia, sensorineural hearing loss, and in some cases, pes cavus. This report details a case of CAPOS syndrome resulting from a maternal gene mutation. Both the child and her mother exhibited symptoms post-febrile induction,including severe sensorineural hearing loss in both ears, ataxia, areflexia, and decreased vision. Additionally, the patient's mother presented with pes cavus. Genetic testing revealed a c. 2452G>A(Glu818Lys) heterozygous mutation in the gene in the patient . This article aims to enhance clinicians' understanding of CAPOS syndrome, emphasizing the case's clinical characteristics, diagnostic process, treatment, and its correlation with genotypeic findings.
Topics: Humans; Child; Female; Cerebellar Ataxia; Talipes Cavus; Hearing Loss, Sensorineural; Optic Atrophy; Mutation; Phenotype; Sodium-Potassium-Exchanging ATPase; Foot Deformities, Congenital; Reflex, Abnormal
PubMed: 38297853
DOI: 10.13201/j.issn.2096-7993.2024.01.012 -
Journal of the American Heart... Feb 2024Simple, noninvasive, and repeatable screening methods are essential for assessing swallowing disorders. We focused on patients with acute stroke and aimed to assess the... (Observational Study)
Observational Study
Prospective Observational Study for the Comparison of Screening Methods Including Tongue Pressure and Repetitive Saliva Swallowing With Detailed Videofluoroscopic Swallowing Study Findings in Patients With Acute Stroke.
BACKGROUND
Simple, noninvasive, and repeatable screening methods are essential for assessing swallowing disorders. We focused on patients with acute stroke and aimed to assess the characteristics of swallowing screening tests, including the modified Mann Assessment of Swallowing Ability score, tongue pressure, and repetitive saliva swallowing test (RSST), compared with detailed videofluoroscopic swallowing study (VFSS) findings to contribute as a helpful resource for their comprehensive and complementary use.
METHODS AND RESULTS
We enrolled first-ever patients with acute stroke conducting simultaneous assessments, including VFSS, modified Mann Assessment of Swallowing Ability score, tongue pressure measurement, and RSST. VFSS assessed aspiration, laryngeal penetration, oral cavity residue, vallecular residue, pharyngeal residue, and swallowing reflex delay. Screening tests were compared with VFSS findings, and multiple logistic analysis determined variable importance. Cutoff values for each abnormal VFSS finding were assessed using receiver operating characteristic analyses. We evaluated 346 patients (70.5±12.6 years of age, 143 women). The modified Mann Assessment of Swallowing Ability score was significantly associated with all findings except aspiration. Tongue pressure was significantly associated with oral cavity and pharyngeal residue. The RSST was significantly associated with all findings except oral cavity residue. Receiver operating characteristic analyses revealed that the minimum cutoff value for all VFSS abnormal findings was RSST ≤2.
CONCLUSIONS
The modified Mann Assessment of Swallowing Ability is useful for broadly detecting swallowing disorders but may miss mild issues and aspiration. The RSST, with a score of ≤2, is valuable for indicating abnormal VFSS findings. Tongue pressure, especially in oral and pharyngeal residues, is useful. Combining these tests might enhance accuracy of the swallowing evaluation.
Topics: Aged, 80 and over; Female; Humans; Deglutition; Deglutition Disorders; Pressure; Saliva; Stroke; Tongue; Prospective Studies
PubMed: 38293925
DOI: 10.1161/JAHA.123.032852 -
Molecular Therapy : the Journal of the... Apr 2024Spasticity, affecting ∼75% of patients with spinal cord injury (SCI), leads to hyperreflexia, muscle spasms, and cocontractions of antagonist muscles, greatly...
Spasticity, affecting ∼75% of patients with spinal cord injury (SCI), leads to hyperreflexia, muscle spasms, and cocontractions of antagonist muscles, greatly affecting their quality of life. Spasticity primarily stems from the hyperexcitability of motoneurons below the lesion, driven by an upregulation of the persistent sodium current and a downregulation of chloride extrusion. This imbalance results from the post-SCI activation of calpain1, which cleaves Nav1.6 channels and KCC2 cotransporters. Our study was focused on mitigating spasticity by specifically targeting calpain1 in spinal motoneurons. We successfully transduced lumbar motoneurons in adult rats with SCI using intrathecal administration of adeno-associated virus vector serotype 6, carrying a shRNA sequence against calpain1. This approach significantly reduced calpain1 expression in transduced motoneurons, leading to a noticeable decrease in spasticity symptoms, including hyperreflexia, muscle spasms, and cocontractions in hindlimb muscles, which are particularly evident in the second month post-SCI. In addition, this decrease, which prevented the escalation of spasticity to a severe grade, paralleled the restoration of KCC2 levels in transduced motoneurons, suggesting a reduced proteolytic activity of calpain1. These findings demonstrate that inhibiting calpain1 in motoneurons is a promising strategy for alleviating spasticity in SCI patients.
Topics: Animals; Rats; Motor Neurons; Muscle Spasticity; Quality of Life; Reflex, Abnormal; Spasm; Spinal Cord; Spinal Cord Injuries; Symporters
PubMed: 38291756
DOI: 10.1016/j.ymthe.2024.01.029 -
American Journal of Ophthalmology Case... Mar 2024To report the first series of retinoblastoma (RB) cases that were managed locally in Kuwait by the retinoblastoma team that was established during the COVID-19 pandemic.
BACKGROUND
To report the first series of retinoblastoma (RB) cases that were managed locally in Kuwait by the retinoblastoma team that was established during the COVID-19 pandemic.
RESULTS
Six cases with RB were included in this study. The ages ranged from 3 months to 2 years with a male to female ratio of 2:1. All cases presented with an abnormal pupillary reflex with or without strabismus. Examination findings mostly showed leukocoria and an intra-retinal mass with calcification with or without vitreous seeding. Most cases were unilateral except for one case, which had bilateral RB. International classification of RB staging ranged from group B to E. Multidisciplinary approach was followed to manage these cases by applying a well-set protocol created by the RB team. Each case was treated according to grade at presentation.
CONCLUSION
COVID-19 pandemic revolutionized the standard of care for RB in Kuwait and mandated the establishment of a multidisciplinary team to follow a standardized protocol to manage RB cases successfully.
PubMed: 38283769
DOI: 10.1016/j.ajoc.2023.101988 -
BMC Medical Informatics and Decision... Jan 2024The epiretinal membrane (ERM) is a common retinal disorder characterized by abnormal fibrocellular tissue at the vitreomacular interface. Most patients with ERM are...
BACKGROUND
The epiretinal membrane (ERM) is a common retinal disorder characterized by abnormal fibrocellular tissue at the vitreomacular interface. Most patients with ERM are asymptomatic at early stages. Therefore, screening for ERM will become increasingly important. Despite the high prevalence of ERM, few deep learning studies have investigated ERM detection in the color fundus photography (CFP) domain. In this study, we built a generative model to enhance ERM detection performance in the CFP.
METHODS
This deep learning study retrospectively collected 302 ERM and 1,250 healthy CFP data points from a healthcare center. The generative model using StyleGAN2 was trained using single-center data. EfficientNetB0 with StyleGAN2-based augmentation was validated using independent internal single-center data and external datasets. We randomly assigned healthcare center data to the development (80%) and internal validation (20%) datasets. Data from two publicly accessible sources were used as external validation datasets.
RESULTS
StyleGAN2 facilitated realistic CFP synthesis with the characteristic cellophane reflex features of the ERM. The proposed method with StyleGAN2-based augmentation outperformed the typical transfer learning without a generative adversarial network. The proposed model achieved an area under the receiver operating characteristic (AUC) curve of 0.926 for internal validation. AUCs of 0.951 and 0.914 were obtained for the two external validation datasets. Compared with the deep learning model without augmentation, StyleGAN2-based augmentation improved the detection performance and contributed to the focus on the location of the ERM.
CONCLUSIONS
We proposed an ERM detection model by synthesizing realistic CFP images with the pathological features of ERM through generative deep learning. We believe that our deep learning framework will help achieve a more accurate detection of ERM in a limited data setting.
Topics: Humans; Epiretinal Membrane; Deep Learning; Retrospective Studies; Diagnostic Techniques, Ophthalmological; Photography
PubMed: 38273286
DOI: 10.1186/s12911-024-02431-4 -
Indian Journal of Anaesthesia Nov 2023
PubMed: 38187976
DOI: 10.4103/ija.ija_713_23 -
Tremor and Other Hyperkinetic Movements... 2023Functional movement disorders (FMD) are a diagnostic and therapeutic challenge, both to the neurologist and psychiatrists. The phenomenology is varied and can present as... (Review)
Review
BACKGROUND
Functional movement disorders (FMD) are a diagnostic and therapeutic challenge, both to the neurologist and psychiatrists. The phenomenology is varied and can present as tremors, dystonia, jerks/myoclonus, gait disorder, other abnormal movements or a combination. There has been an increase in the use of electrophysiological studies that are an important tool in the evaluation of FMDs.
METHODS
We searched the database platforms of MEDLINE, Google scholar, Web of Sciences, Scopus using the Medical Subject Heading terms (MeSH) for all the articles from 1st January 1970 till November 2022. A total of 658 articles were obtained by the search mechanism. A total of 79 relevant articles were reviewed thoroughly, of which 26 articles that had electrophysiological data were included in the present review.
RESULTS
Variability, distractibility and entertainability can be demonstrated in functional tremors by using multichannel surface electromyography. Voluntary ballistic movements tend to decrease the tremor, while loading the tremulous limb with weight causes the tremor amplitude to increase in functional tremor. Presence of Bereitschaftspotential demonstrates the functional nature of palatal tremor and myoclonus. Co-contraction testing may be helpful in differentiating functional from organic dystonia. The R2 blink reflex recovery cycle has been found to be abnormally enhanced in organic blepharospasm, whereas it is normal in presumed functional blepharospasm. Plasticity is found to be abnormally high in organic dystonia and normal in functional dystonia, in addition to enhanced facilitation in patients with organic dystonia.
CONCLUSIONS
Electrophysiological tests supplement clinical examination and helps in differentiating FMD from organic movement disorders.
Topics: Humans; Tremor; Myoclonus; Dystonia; Blepharospasm; Movement Disorders; Dystonic Disorders; Electrophysiology; Conversion Disorder
PubMed: 38162980
DOI: 10.5334/tohm.793 -
Genes Dec 2023We report a case of myeloproliferative neoplasm, not otherwise specified (MPN-NOS)-transformed AML with rearrangement. Chromosomal analysis indicated a simple abnormal... (Review)
Review
We report a case of myeloproliferative neoplasm, not otherwise specified (MPN-NOS)-transformed AML with rearrangement. Chromosomal analysis indicated a simple abnormal karyotype 46,XY,t(7;17)(q21;q24),t(9;22)(p24;q11.2). Fluorescence in situ hybridization (FISH) using a BCR/ABL1/ASS1 probe set suggested a possible rearrangement and a reflex JAK2 breakapart probe indicated rearrangement, most likely partnered with . Optical genome mapping (OGM) analysis confirmed derived through an inv(9)(p24p13) after a t(9;22)(p13;q11.2) in this case. Due to the complexity of chromosomal aberrations, disruption and/or rearrangement of other genes such as , and were also identified by OGM. Although the functionality and clinical importance of these novel rearrangements were unknown, disruption of these genes might be associated with a poorer response to chemotherapy and disease progression. We also reviewed all cases with rearrangement reported in the literature. In conclusion, a suspected t(9;22)/ rearrangement warrants further characterization with genomic assays such as OGM, whole chromosome sequencing, and RNA sequencing to explore other gene disruptions and/or rearrangements.
Topics: Humans; In Situ Hybridization, Fluorescence; Chromosome Aberrations; Myeloproliferative Disorders; Disease Progression; Chromosome Mapping; Janus Kinase 2
PubMed: 38137010
DOI: 10.3390/genes14122188