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1.
Nano Lett ; 2024 Apr 18.
Artigo em Inglês | MEDLINE | ID: mdl-38634512

RESUMO

A coupled ring-waveguide structure is at the core of bosonic wave-based information processing systems, enabling advanced wave manipulations such as filtering, routing, and multiplexing. However, its miniaturization is challenging due to momentum conservation issues in rings with larger curvature that induce significant backscattering and radiation leakage and hampering stable operation. Here, we address it by taking an alternative approach of using topological technology in wavelength-scale and microwave ring-waveguide coupled systems built in nanoengineered phononic crystals. Our approach, which leverages pseudospin conservation in valley topological systems, eliminates phonon backscattering and achieves directional evanescent coupling. The resultant hypersonic waves in the tiny ring exhibit robust transport and resonant circulation. Furthermore, the ring-waveguide hybridization enables critical coupling, where valley-dependent ring-waveguide interference blocks the transmission. Our findings reveal the capability of topological phenomena for managing ultrahigh-frequency phonons in nano/microscale structures and pave the way for advanced phononic circuits in classical and quantum signal processing applications.

2.
IDCases ; 36: e01943, 2024.
Artigo em Inglês | MEDLINE | ID: mdl-38646599

RESUMO

Malignant syphilis (MS) is a rare variant of secondary syphilis. Also known as rupioid syphilis, MS is characterized by the presence of multiple papules, papulopustules, black lamellate crust that may resemble an oyster shell, or nodules with ulceration lacking central clearing. MS is often associated with immunodeficiency and frequently co-occurs with HIV infection. We here report a case of MS in a patient with HIV infection. HIV infection can cause atypical clinical symptoms of syphilis. In this case, unlike previous cases, cutaneous lesions of MS were limited to the face, making the diagnosis challenging based on clinical findings alone. However, his laboratory findings, appearance of the Jarisch-Herxheimer reaction, and a dramatic response to antibiotic therapy are characteristic of MS, making the diagnosis even more certain. Our case suggests the importance of physicians considering the possibility of MS when observing black-crusted lesions.

3.
Hum Genome Var ; 11(1): 17, 2024 Mar 28.
Artigo em Inglês | MEDLINE | ID: mdl-38548773

RESUMO

Autosomal dominant polycystic kidney disease (ADPKD) is commonly caused by PKD1, and mosaic PKD1 variants result in milder phenotypes. We present the case of a 32 year-old male with chronic active Epstein-Barr virus who underwent bone marrow transplantation with chemoradiotherapy at age 9. Despite a low-frequency mosaic splicing PKD1 variant, he developed severe renal cysts and end-stage renal disease in his 30 s. This case highlights how environmental factors may contribute to the genetic predisposition to ADPKD.

4.
Sci Rep ; 14(1): 3492, 2024 02 12.
Artigo em Inglês | MEDLINE | ID: mdl-38347064

RESUMO

Although the causes of neurodevelopmental disorders remain unknown, several environmental risk factors have attracted considerable attention. We conducted a retrospective, longitudinal, population-based cohort study using data from infant health examinations of children born to mothers with pregnancies between April 1, 2014 and March 31, 2016 in Kobe City to identify the perinatal factors associated with neurodevelopmental referrals in 3-year-old children. There were 15,223 and 1283 children in the normal and referral groups, respectively. Neurodevelopmental referrals at the health checkup for 3-year-old children were significantly associated with the lack of social support during pregnancy (adjusted odds ratio [aOR] 1.99, 99% CI 1.14-3.45, p = 0.001), history of psychiatric consultation (aOR 1.56, 99% CI 1.10-2.22, p = 0.001), no social assistance post-delivery (aOR 1.49, 99% CI 1.03-2.16, p = 0.006), Edinburgh Post-natal Depression Scale (EPDS) score ≥ 9 (aOR 1.36, 99% CI 1.01-1.84, p = 0.008), infant gender (male) (aOR 2.51, 99% CI 2.05-3.06, p < 0.001), and cesarean delivery (aOR 1.39, 99% CI 1.11-1.75, p < 0.001). In conclusion, this exploratory study in the general Japanese population identified six perinatal factors associated with neurodevelopmental referrals in 3-year-old children: infant gender (male), cesarean section, maternal history of psychiatric consultation, EPDS score ≥ 9, lack of social support during pregnancy, and no social assistance post-delivery.


Assuntos
Cesárea , Depressão Pós-Parto , Lactente , Humanos , Gravidez , Masculino , Feminino , Pré-Escolar , Japão/epidemiologia , Estudos Retrospectivos , Estudos de Coortes , Fatores de Risco , Depressão Pós-Parto/psicologia , Encaminhamento e Consulta
5.
Phys Rev Lett ; 132(3): 036904, 2024 Jan 19.
Artigo em Inglês | MEDLINE | ID: mdl-38307066

RESUMO

Acoustically induced dressed states of long-lived erbium ions in a crystal are demonstrated. These states are formed by rapid modulation of two-level systems via strain induced by surface acoustic waves whose frequencies exceed the optical linewidth of the ion ensemble. Multiple sidebands and the reduction of their intensities appearing near the surface are evidence of a strong interaction between the acoustic waves and the ions. This development allows for on-chip control of long-lived ions and paves the way to highly coherent hybrid quantum systems with telecom photons, acoustic phonons, and electrons.

6.
Am J Surg Pathol ; 48(3): 353-363, 2024 Mar 01.
Artigo em Inglês | MEDLINE | ID: mdl-38189381

RESUMO

Pancreatic solid pseudopapillary neoplasm (SPN) is a low-grade malignant neoplasm with a good prognosis. Clinically aggressive SPNs have rarely been reported but have not been analyzed in detail. In this study, we referred to this highly malignant type of SPN as high-grade SPN (HG-SPN) and compared its clinicopathological and genetic characteristics with conventional SPN (C-SPN) using immunohistochemistry and gene panel analyses. Five HG-SPNs and 15 C-SPNs were evaluated in this study. HG-SPNs share many pathologic characteristics: macroscopically, solid/cystic appearances, microscopically, pseudopapillary/pseudorosette pattern (100%), tumor cell loose cohesiveness (100%), thin/delicate vasculature (100%), tumor cell cytoplasmic vacuolization (100%), immunohistochemical positivity for ß-catenin (nuclear expression) (100%), CD10 (80%), CD56 (80%), and vimentin (100%). Conversely, HG-SPNs showed distinct malignant features compared with C-SPNs: mean tumor size (11.7 vs. 2.9 cm, P <0.001); true necrosis (100% vs. 0%, P <0.001); high-grade nuclear atypia (100% vs. 0%, P <0.001); lymphatic and/or venous invasion (100% vs. 20%, P =0.004); mean mitotic count (4.38 vs. 0.05/high-power field, P <0.001); and mean Ki-67 labeling index (33.9% vs. 3.4%, P <0.001). All HG-SPN patients died of primary disease 3 to 36 months after surgery, while all C-SPN patients were alive without disease. Genetic studies have shown that all analyzed HG-SPNs have CTNNB1 mutations. Two HG-SPN cases showed RB1 mutations with altered immunohistochemical findings for RB1 and p16. Two HG-SPN cases had TP53 mutation and/or p53 overexpression. In conclusion, HG-SPNs show distinct malignant features and some genetic alterations that differ from C-SPNs, indicating the importance of differentiating between these 2 subtypes.


Assuntos
Neoplasias Pancreáticas , Humanos , Neoplasias Pancreáticas/genética , Neoplasias Pancreáticas/patologia , Pâncreas/patologia , Mutação
7.
Nagoya J Med Sci ; 85(4): 758-771, 2023 Nov.
Artigo em Inglês | MEDLINE | ID: mdl-38155624

RESUMO

We aimed to elucidate the distribution pattern of the positron emission tomography probe [18F]THK 5351, a marker for astrogliosis and tau accumulation, in healthy aging. We also assessed the relationship between THK5351 retention and resting state networks. We enrolled 62 healthy participants in this study. All participants underwent magnetic resonance imaging/positron emission tomography scanning consisting of T1-weighted images, resting state functional magnetic resonance imaging, Pittsburgh Compound-B and THK positron emission tomography. The preprocessed THK images were entered into a scaled subprofile modeling/principal component analysis to extract THK distribution patterns. Using the most significant THK pattern, we generated regions of interest, and performed seed-based functional connectivity analyses. We also evaluated the functional connectivity overlap ratio to identify regions with high between-network connectivity. The most significant THK distributions were observed in the medial prefrontal cortex and bilateral putamen. The seed regions of interest in the medial prefrontal cortex had a functional connectivity map that significantly overlapped with regions of the dorsal default mode network. The seed regions of interest in the putamen showed strong overlap with the basal ganglia and anterior salience networks. The functional connectivity overlap ratio also showed that three peak regions had the characteristics of connector hubs. We have identified an age-related spatial distribution of THK in the medial prefrontal cortex and basal ganglia in normal aging. Interestingly, the distribution's peaks are located in regions of connector hubs that are strongly connected to large-scale resting state networks associated with higher cognitive function.

8.
Curr Biol ; 33(24): 5381-5389.e4, 2023 12 18.
Artigo em Inglês | MEDLINE | ID: mdl-37992720

RESUMO

Endotherms can survive low temperatures and food shortage by actively entering a hypometabolic state known as torpor. Although the decrease in metabolic rate and body temperature (Tb) during torpor is controlled by the brain, the specific neural circuits underlying these processes have not been comprehensively elucidated. In this study, we identify the neural circuits involved in torpor regulation by combining whole-brain mapping of torpor-activated neurons, cell-type-specific manipulation of neural activity, and viral tracing-based circuit mapping. We find that Trpm2-positive neurons in the preoptic area and Vgat-positive neurons in the dorsal medial hypothalamus are activated during torpor. Genetic silencing shows that the activity of either cell type is necessary to enter the torpor state. Finally, we show that these cells receive projections from the arcuate and suprachiasmatic nucleus and send projections to brain regions involved in thermoregulation. Our results demonstrate an essential role of hypothalamic neurons in the regulation of Tb and metabolic rate during torpor and identify critical nodes of the torpor regulatory network.


Assuntos
Hipotálamo , Torpor , Hipotálamo/fisiologia , Torpor/fisiologia , Área Pré-Óptica , Núcleo Supraquiasmático , Encéfalo
9.
Sci Rep ; 13(1): 20926, 2023 11 27.
Artigo em Inglês | MEDLINE | ID: mdl-38017093

RESUMO

This study investigated the relationship between sleep habits in early childhood and academic performance and non-cognitive skills in the first grade. We retrospectively analyzed a longitudinal population-based cohort from birth through early childhood, up to elementary school, in Amagasaki City, Japan. The primary outcome was academic performance in the first grade. Other outcomes were self-reported non-cognitive skills. Overall, 4395 children were enrolled. Mean national language scores for children with bedtimes at 18:00-20:00, 21:00, 22:00, and ≥ 23:00 were 71.2 ± 19.7, 69.3 ± 19.4, 68.3 ± 20.1, and 62.5 ± 21.3, respectively. Multiple regression analysis identified bedtime at 3 years as a significant factor associated with academic performance. However, sleep duration was not significantly associated with academic performance. Bedtime at 3 years also affected non-cognitive skills in the first grade. Diligence decreased with a later bedtime (21:00 vs. 18:00-20:00; odds ratio [OR]: 1.98, 95% confidence interval [CI] 1.27-3.09; 22:00 vs. 18:00-20:00; OR: 2.15, 95% CI 1.37-3.38; ≥ 23:00 vs. 18:00-20:00; OR: 2.33, 95% CI 1.29-4.20). Thus, early bedtime at 3 years may be associated with a higher academic performance and better non-cognitive skills in the first grade. Optimum early-childhood sleep habits may positively impact academic future.


Assuntos
Desempenho Acadêmico , Sono , Humanos , Pré-Escolar , Estudos Retrospectivos , Instituições Acadêmicas , Idioma
10.
Front Neurosci ; 17: 1150868, 2023.
Artigo em Inglês | MEDLINE | ID: mdl-37674514

RESUMO

Our goal was to conduct a scoping review of the literature on the treatment of infection-triggered encephalopathy syndrome/acute encephalopathy in children, focusing on treatment targets and treatment initiation timing. We performed literature searches using PubMed for articles reporting treatments of infection-triggered encephalopathy syndrome/acute encephalopathy. We included articles describing specific treatments for acute encephalopathy with control groups. For the purpose of searching new therapies only experimentally tried in the case series, we also included case series studies without control groups in this review, if the studies contained at least two cases with clear treatment goals. Therapies were classified based on their mechanisms of action into brain protection therapy, immunotherapy, and other therapies. We operationally categorized the timing of treatment initiation as T1 (6-12 h), T2 (12-24 h), T3 (24-48 h), and T4 (>48 h) after the onset of seizures and/or impaired consciousness. Thirty articles were included in this review; no randomized control study was found. Eleven retrospective/historical cohort studies and five case-control studies included control groups with or without specific therapies or outcomes. The targeted conditions and treatment timing varied widely across studies. However, the following three points were suggested to be effective in multiple studies: (1) Careful seizure management and targeted temperature management within 12 h (T1) of onset of febrile seizure/prolonged impaired consciousness without multiple organ failure may reduce the development of acute encephalopathy with biphasic seizures and late reduced diffusion; (2) immunotherapy using corticosteroids, tocilizumab, or plasma exchange within 24 h (T1-T2) of onset of acute necrotizing encephalopathy may reduce sequelae; and (3) anakinra therapy and ketogenic diet demonstrate little evidence of neurologic sequelae reduction, but may reduce seizure frequency and allow for weaning from barbiturates, even when administered weeks (T4) after onset in children with febrile infection-related epilepsy syndrome. Although available studies have no solid evidence in the treatment of infection-triggered encephalopathy syndrome/acute encephalopathy, this scoping review lays the groundwork for future prospective clinical trials.

11.
Sci Rep ; 13(1): 16063, 2023 Sep 25.
Artigo em Inglês | MEDLINE | ID: mdl-37749165

RESUMO

Sulfide glasses can exhibit notable ionic conductivity because of annealing-associated crystallization. One well-known example is Li7P3S11. Our research showed that adding bromine (Br) to Li3PS4 sulfide glass results in a similar crystal structure and high ionic conductivity comparable to that of another compound Li10GeP2S12. This structure differs from the PS4 anion framework of Li3PS4. In addition, the ionic conductivity decreases owing to a structural transition to the ß-phase. Herein, we present our findings on the local structure of Li3PS4 sulfide glass and its crystallized glass ceramic with the addition of Br. This analysis relies on the pair distribution function analysis obtained from high-energy X-ray diffraction. Moreover, using the bond valence sum method, we verified that incorporating Br promotes the formation of Li ionic conduction pathways. Our results indicate that precise control over the anion molecular structure by introducing halogens holds promise for achieving high Li-ion conductivity.

12.
Ann Nucl Med ; 37(7): 410-418, 2023 Jul.
Artigo em Inglês | MEDLINE | ID: mdl-37160863

RESUMO

OBJECTIVES: Standardised uptake value ratio (SUVR) is usually obtained by dividing the SUV of the region of interest (ROI) by that of the cerebellar cortex. Cerebellar cortex is not a valid reference in cases where amyloid ß deposition or lesions are present. Only few studies have evaluated the use of other regions as references. We compared the validity of the pons and corpus callosum as reference regions for the quantitative evaluation of brain positron emission tomography (PET) using 11C-PiB compared to the cerebellar cortex. METHODS: We retrospectively evaluated data from 86 subjects with or without Alzheimer's disease (AD). All subjects underwent magnetic resonance imaging, PET imaging, and cognitive function testing. For the quantitative analysis, three-dimensional ROIs were automatically placed, and SUV and SUVR were obtained. We compared these values between AD and healthy control (HC) groups. RESULTS: SUVR data obtained using the pons and corpus callosum as reference regions strongly correlated with that using the cerebellar cortex. The sensitivity and specificity were high when either the pons or corpus callosum was used as the reference region. However, the SUV values of the corpus callosum were different between AD and HC (p < 0.01). CONCLUSIONS: Our data suggest that the pons and corpus callosum might be valid reference regions.


Assuntos
Doença de Alzheimer , Humanos , Doença de Alzheimer/diagnóstico por imagem , Doença de Alzheimer/patologia , Peptídeos beta-Amiloides/metabolismo , Corpo Caloso/metabolismo , Corpo Caloso/patologia , Estudos Retrospectivos , Tomografia por Emissão de Pósitrons/métodos , Encéfalo/metabolismo , Ponte/diagnóstico por imagem , Ponte/metabolismo , Ponte/patologia , Compostos de Anilina
13.
Am J Physiol Gastrointest Liver Physiol ; 324(6): G466-G475, 2023 06 01.
Artigo em Inglês | MEDLINE | ID: mdl-37096901

RESUMO

The supraspinal brain regions controlling defecation reflex remain to be elucidated. The purpose of this study was to determine the roles of the hypothalamic A11 region and the medullary raphe nuclei in regulation of defecation. For chemogenetic manipulation of specific neurons, we used the double virus vector infection method in rats. hM3Dq or hM4Di was expressed in neurons of the A11 region and/or the raphe nuclei that send output to the lumbosacral defecation center. Immunohistological and functional experiments revealed that both the A11 region and the raphe nuclei directly connected with the lumbosacral spinal cord through descending pathways composed of stimulatory monoaminergic neurons. Stimulation of the hM3Dq-expressing neurons in the A11 region or the raphe nuclei enhanced colorectal motility only when GABAergic transmission in the lumbosacral spinal cord was blocked by bicuculline. Experiments using inhibitory hM4Di-expressing rats revealed that enhancement of colorectal motility caused by noxious stimuli in the colon is mediated by both the A11 region and the raphe nuclei. Furthermore, suppression of the A11 region and/or the raphe nuclei significantly inhibited water avoidance stress-induced defecation. These findings demonstrate that the A11 region and the raphe nuclei play an essential role in the regulation of colorectal motility. This is important because brain regions that mediate both intracolonic noxious stimuli-induced defecation and stress-induced defecation have been clarified for the first time.NEW & NOTEWORTHY The A11 region and the raphe nuclei, constituting descending pain inhibitory pathways, are related to both intracolonic noxious stimuli-induced colorectal motility and stress-induced defecation. Our findings may provide an explanation for the concurrent appearance of abdominal pain and defecation disorders in patients with irritable bowel syndrome. Furthermore, overlap of the pathway controlling colorectal motility with the pathway mediating stress responses may explain why stress exacerbates bowel symptoms.


Assuntos
Neoplasias Colorretais , Núcleos da Rafe , Animais , Ratos , Bulbo , Núcleos da Rafe/fisiologia , Medula Espinal/fisiologia
14.
Elife ; 122023 04 14.
Artigo em Inglês | MEDLINE | ID: mdl-37057896

RESUMO

Outer arm dynein (OAD) is the main force generator of ciliary beating. Although OAD loss is the most frequent cause of human primary ciliary dyskinesia, the docking mechanism of OAD onto the ciliary doublet microtubule (DMT) remains elusive in vertebrates. Here, we analyzed the functions of Calaxin/Efcab1 and Armc4, the two of five components of vertebrate OAD-DC (docking complex), using zebrafish spermatozoa and cryo-electron tomography. Mutation of armc4 caused complete loss of OAD, whereas mutation of calaxin caused only partial loss of OAD. Detailed structural analysis revealed that calaxin-/- OADs are tethered to DMT through DC components other than Calaxin, and that recombinant Calaxin can autonomously rescue the deficient DC structure and the OAD instability. Our data demonstrate the discrete roles of Calaxin and Armc4 in the OAD-DMT interaction, suggesting the stabilizing process of OAD docking onto DMT in vertebrates.


Assuntos
Cílios , Proteínas do Citoesqueleto , Dineínas , Microtúbulos , Peixe-Zebra , Animais , Masculino , Axonema/metabolismo , Cílios/genética , Cílios/metabolismo , Dineínas/metabolismo , Microtúbulos/metabolismo , Mutação , Peixe-Zebra/genética , Proteínas do Citoesqueleto/genética , Proteínas do Citoesqueleto/metabolismo , Proteínas do Domínio Armadillo/genética , Proteínas do Domínio Armadillo/metabolismo , Espermatozoides/metabolismo , Microscopia de Fluorescência , Microscopia Crioeletrônica , Modelos Moleculares , Estabilidade Proteica
15.
CEN Case Rep ; 12(4): 390-396, 2023 11.
Artigo em Inglês | MEDLINE | ID: mdl-36864233

RESUMO

During the treatment of a patient on hemodialysis with severe coronavirus disease 2019 (COVID-19), the patient was weaned from extracorporeal membrane oxygenation, which was used to treat severe COVID-19 pneumonia. However, the patient's condition worsened after the peak infection phase of COVID-19 because of acute respiratory distress syndrome with suspected hemophagocytic lymphohistiocytosis (HLH). After a bone marrow biopsy confirmed the diagnosis, methylprednisolone pulse therapy, followed by combination therapy (including oral prednisolone and cyclosporine) was immediately administered, and the patient survived. Because HLH can occur a month or more after the onset of COVID-19, even if the viral load is reduced to the point of being undetectable by reverse transcriptase-polymerase chain reaction, it can be considered to correspond to the "post-acute COVID-19 syndrome," which has recently been proposed. Early intervention is necessary, because HLH can be fatal. Therefore, it is important to know that HLH can occur at any stage of COVID-19 and to pay attention to the patient's progress over time, including checking the HScore.


Assuntos
COVID-19 , Linfo-Histiocitose Hemofagocítica , Humanos , COVID-19/complicações , Linfo-Histiocitose Hemofagocítica/complicações , Linfo-Histiocitose Hemofagocítica/diagnóstico , Linfo-Histiocitose Hemofagocítica/terapia , Medula Óssea/patologia , Baço
16.
Clin J Gastroenterol ; 16(3): 344-348, 2023 Jun.
Artigo em Inglês | MEDLINE | ID: mdl-36867353

RESUMO

The pathologic diagnosis of duodenal tumors is a developing field; however, its overview remains unclear. We describe a rare case of a duodenal gastric-type neoplasm in a 50-year-old woman. She visited her primary care doctor with complaints of upper abdominal pain, tarry stools, and shortness of breath on exertion. She was admitted owing to a stalked polyp with erosion and hemorrhage in the descending part of the duodenum. Endoscopic mucosal resection (EMR) was performed on the polyp. Histologically, the resected polyp was a lipomatous lesion in the submucosal layer, composed of mature adipose tissues. Scattered irregular lobules of Brunner's gland-like structures with well-preserved construction but mildly enlarged nuclei and occasional conspicuous nucleoli of the constituent cells were observed. The resection margin was negative. EMR findings of the duodenal polyp showed a gastric epithelial tumor within a lipoma, a rare histological type that has not been reported previously. This tumor may be classified as a "neoplasm with uncertain malignant potential" in a lipoma, an intermediate category between adenoma and invasive adenocarcinoma. There is no consensus on treatment, and careful follow-up is recommended. This is the first report of a duodenal gastric-type neoplasm with uncertain malignant potential in a lipoma.


Assuntos
Glândulas Duodenais , Duodenopatias , Neoplasias Duodenais , Lipoma , Neoplasias Gástricas , Feminino , Humanos , Pessoa de Meia-Idade , Neoplasias Duodenais/diagnóstico por imagem , Neoplasias Duodenais/cirurgia , Neoplasias Duodenais/patologia , Glândulas Duodenais/patologia , Duodeno/cirurgia , Duodeno/patologia , Duodenopatias/patologia , Lipoma/diagnóstico por imagem , Lipoma/cirurgia , Neoplasias Gástricas/diagnóstico , Neoplasias Gástricas/cirurgia , Neoplasias Gástricas/patologia
17.
Brain Dev ; 45(6): 317-323, 2023 Jun.
Artigo em Inglês | MEDLINE | ID: mdl-36774261

RESUMO

OBJECTIVE: Hemorrhagic shock and encephalopathy syndrome (HSES) is a serious condition that requires intensive care and is associated with a high mortality rate. However, its pathogenesis remains unclear. In the present study, a genetic analysis was performed to determine the genetic background of patients with clinically suspected Dravet syndrome (DS) who developed HSES. METHODS: Whole exome sequencing was performed, followed by minigene analysis of the intron variant detected by whole exome sequencing to confirm its effect on splicing. RESULTS: Whole exome sequencing revealed a novel 21-bp deletion in intron 3 of SCN1A NM_001165963.4 (NC_000002.11:g.166073675_166073695del). This deletion was not found in the patient's parents and was proven to be de novo. Minigene analysis revealed an aberrant mRNA lacking 40 and 106 bp from the 5' end of exon 4 of SCN1A. Therefore, we diagnosed this case as DS due to the deletion in intron 3 of SCN1A. CONCLUSIONS: We report a case of DS with HSES caused by a 21-bp deletion in the intron of SCN1A that was confirmed by minigene analysis. The present case met Levin's criteria for HSES and the splicing analysis of SCN1A is an important finding. This study has important implications for understanding HSES pathogenesis.


Assuntos
Epilepsias Mioclônicas , Canal de Sódio Disparado por Voltagem NAV1.1 , Humanos , Canal de Sódio Disparado por Voltagem NAV1.1/genética , Íntrons/genética , Epilepsias Mioclônicas/genética , Mutação
18.
BMC Neurol ; 23(1): 7, 2023 Jan 07.
Artigo em Inglês | MEDLINE | ID: mdl-36609211

RESUMO

BACKGROUND: Cytokine levels have been measured in acute encephalopathy (AE) to determine its pathology or as a diagnostic biomarker to distinguish it from febrile seizures (FS); however, the dynamics of cytokine level changes have not yet been fully captured in these two neurological manifestations. Thus, we aimed to explore the time course of serum cytokine level changes within 72 h after onset in AE and FS. METHODS: We retrospectively measured cytokine level in residual serum samples at multiple timepoints in seven children whose final diagnoses were AE or FS. RESULTS: The levels of 13 cytokines appeared to increase immediately after onset and peaked within 12-24 h after onset: interleukin (IL)-1ß, IL-4 IL-5, IL-6, IL-8, IL-10, IL-17, eotaxin, fibroblast growth factor, granulocyte colony-stimulating factor, interferon gamma, interferon-inducible protein-10, and macrophage chemoattractant protein-1. There were no dynamic changes in the levels of three cytokines (IL-1 receptor agonist, macrophage inflammatory protein-1α, and platelet-derived growth factor-bb) 72 h after onset. Levels of some cytokines decreased to around control levels within 48 h after onset: IL-1ß, IL-4, IL-5, IL-17, fibroblast growth factor, and interferon gamma. The levels of most cytokines appeared to be higher in AE, especially in hemorrhagic shock encephalopathy syndrome, than in FS. CONCLUSIONS: Cytokine levels in both AE and FS change dynamically, such as the levels of several cytokines increased within a few hours after onset and decreased at 12-24 h after onset. Therefore, it will be desirable to make clinical decisions regarding the administration of anti-inflammatory therapy in 24 h after onset in AE.


Assuntos
Encefalopatias , Convulsões Febris , Criança , Humanos , Citocinas , Interleucina-17 , Interferon gama , Interleucina-4 , Estudos Retrospectivos , Interleucina-5
19.
BMC Neurol ; 23(1): 28, 2023 Jan 18.
Artigo em Inglês | MEDLINE | ID: mdl-36653748

RESUMO

BACKGROUND: Patients with complex febrile seizures (CFS) often display abnormal laboratory results, unexpectedly prolonged seizures, and/or altered consciousness after admission. However, no standardized values have been established for the clinical and laboratory characteristics of CFS in the acute phase, making the management of CFS challenging. This study aimed to determine the clinical and laboratory characteristics of children with CFS during the acute phase. In particular, the duration of impaired consciousness and the detailed distribution of blood test values were focused. METHODS: We retrospectively reviewed medical records of a consecutive pediatric cohort aged 6-60 months who were diagnosed with CFS and admitted to Kobe Children's Hospital between October 2002 and March 2017. During the study period, 486 seizure episodes with confirmed CFS were initially reviewed, with 317 seizure episodes included in the analysis. Detailed clinical and laboratory characteristics were summarized. RESULTS: Among 317 seizure episodes (296 children with CFS), 302 required two or fewer anticonvulsants to be terminated. In 296 episodes showing convulsive seizures, median seizure duration was 30.5 min. The median time from onset to consciousness recovery was 175 min. Impaired consciousness lasting > 6, 8, and 12 h was observed in 13.9%, 7.6%, and 1.9% patients with CFS, respectively. Additionally, the distribution of aspartate aminotransferase, lactate dehydrogenase, creatinine, and glucose were clarified with 3, 10, 50, 90, and 97 percentile values. CONCLUSION: This study detailed the clinical and laboratory findings of acute-phase CFS using the data of the largest 15-year consecutive cohort of children with CFS. These results provide important information for appropriate acute management of CFS.


Assuntos
Convulsões Febris , Criança , Humanos , Lactente , Convulsões Febris/diagnóstico , Convulsões Febris/epidemiologia , Estudos Retrospectivos , Japão/epidemiologia , Convulsões/diagnóstico , Convulsões/epidemiologia
20.
J Orthop Sci ; 28(3): 567-572, 2023 May.
Artigo em Inglês | MEDLINE | ID: mdl-35151566

RESUMO

BACKGROUND: The aim of this study was to investigate glenoid wear in patients with humeral head replacement with a smaller humeral head, who were observed for >5 years, and to examine the relationship between radiographic changes and clinical outcome. METHODS: In this study, 41 shoulders of 41 patients (13 men, 28 women) were followed up for >5 years. The mean patient age at the time of surgery was 70.5 years. The average follow-up period at short-term was 26.0 months, and intermediate-term was 66.5 months. We classified glenoid wear into four grades (i.e., Grade 0 to Grade 3). Age, sex, clinical scores, and range of motion were investigated in relation to the grade of glenoid wear. Radiographs of glenoid wear evaluated in the short-term were subsequently compared to radiographs obtained in the intermediate-term period. RESULTS: At the final follow-up, 16 (39%) patients had Grade 0 wear, 11 (27%) patients had Grade 1 wear, 10 (24%) patients had Grade 2 wear, and 4 (10%) patients had Grade 3 wear. The University of California-Los Angeles score, Japanese Orthopaedic Association score, and active forward flexion were significantly lower in the Grade 3 patients; however, Grade 3 patients did not have significant pain. No significant difference in age, sex, Constant score, active external rotation, and active internal rotation in relation to the grade of glenoid wear was observed. In total, 25 (61%) patients showed a progression of glenoid wear. Cases in which glenoid wear progressed after 4 years after surgery were rare. Two patients of Grade 3 underwent total shoulder arthroplasty revision at 16 months and 38 months, respectively. CONCLUSIONS: Glenoid wear occurred in 61% of patients at 5 years follow-up. Pain of Grade 3 patients was mild, therefore, if pain is not severe, revision surgery may not be necessary.


Assuntos
Artroplastia do Ombro , Artroplastia de Substituição , Prótese Articular , Artropatia de Ruptura do Manguito Rotador , Articulação do Ombro , Masculino , Humanos , Feminino , Idoso , Articulação do Ombro/diagnóstico por imagem , Articulação do Ombro/cirurgia , Artropatia de Ruptura do Manguito Rotador/cirurgia , Resultado do Tratamento , Cabeça do Úmero/diagnóstico por imagem , Cabeça do Úmero/cirurgia , Dor/cirurgia , Amplitude de Movimento Articular , Estudos Retrospectivos , Seguimentos
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