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1.
Nat Commun ; 15(1): 3971, 2024 May 10.
Artigo em Inglês | MEDLINE | ID: mdl-38729931

RESUMO

The Berry curvature dipole (BCD) serves as a one of the fundamental contributors to emergence of the nonlinear Hall effect (NLHE). Despite intense interest due to its potential for new technologies reaching beyond the quantum efficiency limit, the interplay between BCD and NLHE has been barely understood yet in the absence of a systematic study on the electronic band structure. Here, we report NLHE realized in NbIrTe4 that persists above room temperature coupled with a sign change in the Hall conductivity at 150 K. First-principles calculations combined with angle-resolved photoemission spectroscopy (ARPES) measurements show that BCD tuned by the partial occupancy of spin-orbit split bands via temperature is responsible for the temperature-dependent NLHE. Our findings highlight the correlation between BCD and the electronic band structure, providing a viable route to create and engineer the non-trivial Hall effect by tuning the geometric properties of quasiparticles in transition-metal chalcogen compounds.

2.
Front Endocrinol (Lausanne) ; 15: 1352552, 2024.
Artigo em Inglês | MEDLINE | ID: mdl-38699383

RESUMO

Congenital adrenal hyperplasia (CAH) and Williams Syndrome (WS; MIM # 194050) are distinct genetic conditions characterized by unique clinical features. 21-Hydroxylase deficiency (21-OHD; MIM #201910), the most common form of CAH, arises from mutations in the CYP21A2 gene, resulting in virilization of the external genitalia in affected females, early puberty in males, and short stature. Williams syndrome, caused by a microdeletion of 7q11.23, presents with distinctive facial features, intellectual disability, unique personality traits, early puberty, and short stature. This case report describe the clinical features of a 4-year-old girl referred due to progressive virilization and developmental delay. Genetic analysis confirmed concurrent CAH and WS, identifying a novel mutation in the CYP21A2 gene (c.1442T>C). Following corticosteroid therapy initiation, the patient developed central precocious puberty. This case report delves into the pubertal change patterns in a patient affected by overlapping genetic conditions, providing valuable insights in to the intricate clinical manifestation and management of these rare complex disorders.


Assuntos
Hiperplasia Suprarrenal Congênita , Puberdade Precoce , Virilismo , Síndrome de Williams , Humanos , Feminino , Hiperplasia Suprarrenal Congênita/complicações , Hiperplasia Suprarrenal Congênita/diagnóstico , Hiperplasia Suprarrenal Congênita/genética , Puberdade Precoce/diagnóstico , Puberdade Precoce/genética , Puberdade Precoce/etiologia , Síndrome de Williams/complicações , Síndrome de Williams/genética , Síndrome de Williams/diagnóstico , Pré-Escolar , Virilismo/genética , Virilismo/diagnóstico , Esteroide 21-Hidroxilase/genética , Mutação
3.
Int J Pharm ; 657: 124177, 2024 May 01.
Artigo em Inglês | MEDLINE | ID: mdl-38697582

RESUMO

We present a promising method for producing amorphous drug particles using a nozzle-free ultrasonic nebulizer with polymers, specifically polyvinylpyrrolidone (PVP), poly(acrylic acid) (PAA), and Eudragit® S 100 (EUD). Model crystalline phase drugs-Empagliflozin, Furosemide, and Ilaprazole-are selected. This technique efficiently produces spherical polymer-drug composite particles and demonstrates enhanced stability against humidity and thermal conditions, compared to the drug-only amorphous particles. The composite particles exhibit improved water dissolution compared to the original crystalline drugs, indicating potential bioavailability enhancements. While there are challenges, including the need for continuous water supply for ultrasonic component cooling, dependency on the solubility of polymers and drugs in volatile organic solvents, and mildly elevated temperatures for solvent evaporation, our method offers significant advantages over traditional approaches. It provides a straightforward, flexible process adaptable to various drug-polymer combinations and consistently yields spherical amorphous solid dispersion (ASD) particles with a narrow size distribution. These attributes make our method a valuable advancement in pharmaceutical drug formulation and delivery.

4.
Artigo em Inglês | MEDLINE | ID: mdl-38656187

RESUMO

To address the plasticization phenomenon and MOF-polymer interfacial defects, we report the synthesis of ionic cross-linked MOF MMMs from a dual brominated polymer and MOF components by using N,N'-dimethylpiperazine as the cross-linker. We synthesized brominated MIL-101(Cr) nanoparticles by using mixed linkers and prepared brominated polyimide (6FDA-DAM-Br) to form ionic cross-linked MMMs. The gas permeation properties of the polyimide, ionic cross-linked MOF-polymer MMMs, and non-cross-linked MOF-polymer MMMs with various MOF weight loadings were investigated systematically to effectively understand the effects of MOF weight loading and ionic cross-linking. The ionic cross-linked 40 wt % MOF-polymer MMM exhibited significantly enhanced gas permeability with an H2 permeability of 1640 Barrer and CO2 permeability of 1981 Barrer and slightly decreased H2/CH4, H2/N2, CO2/CH4 and CO2/N2 selectivities of 16.9, 15.4, 20.5, and 18.6, respectively. The H2 and CO2 permeabilities are approximately 2-3 fold higher than those of the pure polyimide (6FDA-DAM) membrane. Moreover, the ionic cross-linked 40 wt % MOF-polymer MMM exhibited significantly increased resistance to plasticization. This is because the brominated MOF incorporation boosted molecular transport and polymer chain rigidity, and ionic cross-linking further reduced the number of interfacial defects and polymer chain mobility.

5.
Nano Converg ; 11(1): 14, 2024 Apr 15.
Artigo em Inglês | MEDLINE | ID: mdl-38622355

RESUMO

Tunability of interfacial effects between two-dimensional (2D) crystals is crucial not only for understanding the intrinsic properties of each system, but also for designing electronic devices based on ultra-thin heterostructures. A prerequisite of such heterostructure engineering is the availability of 2D crystals with different degrees of interfacial interactions. In this work, we report a controlled epitaxial growth of monolayer TaSe2 with different structural phases, 1H and 1 T, on a bilayer graphene (BLG) substrate using molecular beam epitaxy, and its impact on the electronic properties of the heterostructures using angle-resolved photoemission spectroscopy. 1H-TaSe2 exhibits significant charge transfer and band hybridization at the interface, whereas 1 T-TaSe2 shows weak interactions with the substrate. The distinct interfacial interactions are attributed to the dual effects from the differences of the work functions as well as the relative interlayer distance between TaSe2 films and BLG substrate. The method demonstrated here provides a viable route towards interface engineering in a variety of transition-metal dichalcogenides that can be applied to future nano-devices with designed electronic properties.

6.
Sci Rep ; 14(1): 8747, 2024 04 16.
Artigo em Inglês | MEDLINE | ID: mdl-38627483

RESUMO

This study aimed to evaluate the incidence and likelihood of antibiotic-associated encephalopathy (AAE), comparing rates among the classes of antibiotics in monotherapy or in combination therapy. We also investigated the associations between the incidence of AAE and the glomerular filtration rate (GFR) and electroencephalogram features. Consecutive admissions that used any kind of antibiotics to treat infectious diseases were identified from six hospitals. We classified antibiotics according to three distinct pathophysiologic mechanisms and clinical subtypes. We searched for the incidence of AAE as the primary outcome. A total of 97,433 admission cases among 56,038 patients was identified. Cases that received type 1 antibiotics had significantly more frequent AAE compared to those that received type 2 antibiotics (adjusted odds ratio [OR], 2.62; 95% confidence interval [CI] 1.15-5.95; P = 0.021). Combined use of type 1 + 2 antibiotics was associated with a significantly higher incidence of AAE compared to the use of type 2 antibiotics alone (adjusted OR, 3.44; 95% CI 1.49-7.93; P = 0.004). Groups with GFR < 60 mL/min/1.73 m2 had significantly higher incidence rates of AAE compared to those with GFRs ≥ 90 mL/min/1.73 m2 among cases that received type 1 + 2 antibiotics. Detection of spike-and-wave or sharp-and-wave patterns on electroencephalogram was significantly more common in the combination therapy group. Combination use of antibiotics was associated with a higher incidence of AAE compared to monotherapy. The incidence of AAE significantly increased as renal function decreased, and epileptiform discharges were more likely to be detected in cases receiving combined antibiotics.


Assuntos
Antibacterianos , Encefalopatias , Humanos , Antibacterianos/efeitos adversos , Incidência , Taxa de Filtração Glomerular , Encefalopatias/induzido quimicamente , Encefalopatias/epidemiologia , Encefalopatias/tratamento farmacológico , Hospitais
7.
PLoS One ; 19(4): e0301635, 2024.
Artigo em Inglês | MEDLINE | ID: mdl-38630743

RESUMO

Remimazolam's rapid onset and offset make it an innovative sedative for use during regional anesthesia. However, its respiratory safety profile is not well understood. We compared the continuous infusion of remimazolam with commonly used sedatives, propofol and dexmedetomidine, after regional anesthesia. In this retrospective study, the incidence of apnea (>10 seconds) was assessed in patients who underwent orthopedic surgery under regional anesthesia and received moderate to deep sedation using continuous infusion of remimazolam (group R: 0.1 mg/kg in 2 minutes followed by 0.5 mg/kg/hr). The incidence was compared with that of propofol (group P: 2-3 µg/mL target-controlled infusion) and dexmedetomidine (group D: 1 µg/kg in 10 minutes followed by 0.4-1 µg/kg/hr). Propensity score weighted multivariable logistic regression model was utilized to determine the effects of the sedative agents on the incidence of apnea. A total of 634 (191, 278, and 165 in group R, P, and D) cases were included in the final analysis. The incidence of apnea was 63.9%, 67.3%, and 48.5% in group R, P, and D, respectively. The adjusted odds ratios for apnea were 2.33 (95% CI, 1.50 to 3.61) and 2.50 (95% CI, 1.63 to 3.85) in group R and P, compared to group D. The incidence of apnea in patients receiving moderate to deep sedation using continuous infusion of remimazolam with dosage suggested in the current study was over 60%. Therefore, careful titration and respiratory monitoring is warranted.


Assuntos
Benzodiazepinas , Sedação Profunda , Dexmedetomidina , Propofol , Humanos , Estudos Retrospectivos , Apneia , Hipnóticos e Sedativos
8.
Chem Soc Rev ; 2024 Apr 15.
Artigo em Inglês | MEDLINE | ID: mdl-38619389

RESUMO

The energy storage and vehicle industries are heavily investing in advancing all-solid-state batteries to overcome critical limitations in existing liquid electrolyte-based lithium-ion batteries, specifically focusing on mitigating fire hazards and improving energy density. All-solid-state lithium-sulfur batteries (ASSLSBs), featuring earth-abundant sulfur cathodes, high-capacity metallic lithium anodes, and non-flammable solid electrolytes, hold significant promise. Despite these appealing advantages, persistent challenges like sluggish sulfur redox kinetics, lithium metal failure, solid electrolyte degradation, and manufacturing complexities hinder their practical use. To facilitate the transition of these technologies to an industrial scale, bridging the gap between fundamental scientific research and applied R&D activities is crucial. Our review will address the inherent challenges in cell chemistries within ASSLSBs, explore advanced characterization techniques, and delve into innovative cell structure designs. Furthermore, we will provide an overview of the recent trends in R&D and investment activities from both academia and industry. Building on the fundamental understandings and significant progress that has been made thus far, our objective is to motivate the battery community to advance ASSLSBs in a practical direction and propel the industrialized process.

9.
PLoS One ; 19(4): e0298870, 2024.
Artigo em Inglês | MEDLINE | ID: mdl-38564629

RESUMO

Physical fitness (PF) includes various factors that significantly impacts athletic performance. Analyzing PF is critical in developing customized training methods for athletes based on the sports in which they compete. Previous approaches to analyzing PF have relied on statistical or machine learning algorithms that focus on predicting athlete injury or performance. In this study, six machine learning algorithms were used to analyze the PF of 1,489 male adolescent athletes across five sports, including track & field, football, baseball, swimming, and badminton. Furthermore, the machine learning models were utilized to analyze the essential elements of PF using feature importance of XGBoost, and SHAP values. As a result, XGBoost represents the highest performance, with an average accuracy of 90.14, an area under the curve of 0.86, and F1-score of 0.87, demonstrating the similarity between the sports. Feature importance of XGBoost, and SHAP value provided a quantitative assessment of the relative importance of PF in sports by comparing two sports within each of the five sports. This analysis is expected to be useful in analyzing the essential PF elements of athletes in various sports and recommending personalized exercise methods accordingly.


Assuntos
Traumatismos em Atletas , Futebol Americano , Humanos , Masculino , Adolescente , Atletas , Futebol Americano/lesões , Natação , Aptidão Física
10.
Structure ; 2024 Mar 27.
Artigo em Inglês | MEDLINE | ID: mdl-38579707

RESUMO

Human mixed lineage leukemia 4 (MLL4), also known as KMT2D, regulates cell type specific transcriptional programs through enhancer activation. Along with the catalytic methyltransferase domain, MLL4 contains seven less characterized plant homeodomain (PHD) fingers. Here, we report that the sixth PHD finger of MLL4 (MLL4PHD6) binds to the hydrophobic motif of ten-eleven translocation 3 (TET3), a dioxygenase that converts methylated cytosine into oxidized derivatives. The solution NMR structure of the TET3-MLL4PHD6 complex and binding assays show that, like histone H4 tail, TET3 occupies the hydrophobic site of MLL4PHD6, and that this interaction is conserved in the seventh PHD finger of homologous MLL3 (MLL3PHD7). Analysis of genomic localization of endogenous MLL4 and ectopically expressed TET3 in mouse embryonic stem cells reveals a high degree overlap on active enhancers and suggests a potential functional relationship of MLL4 and TET3.

11.
Hematology ; 29(1): 2343163, 2024 Dec.
Artigo em Inglês | MEDLINE | ID: mdl-38655690

RESUMO

BACKGROUND: Congenital dyserythropoietic anemia Ⅱ (CDA Ⅱ) is a rare inherited disorder of defective erythropoiesis caused by SEC23B gene mutation. CDA Ⅱ is often misdiagnosed as a more common type of clinically related anemia, or it remains undiagnosed due to phenotypic variability caused by the coexistence of inherited liver diseases, including Gilbert's syndrome (GS) and hereditary hemochromatosis. METHODS: We describe the case of a boy with genetically undetermined severe hemolytic anemia, hepatosplenomegaly, and gallstones whose diagnosis was achieved by targeted next generation sequencing. RESULTS: Molecular analysis revealed a maternally inherited novel intronic variant and a paternally inherited missense variant, c.[994-3C > T];[1831C > T] in the SEC23B gene, confirming diagnosis of CDA Ⅱ. cDNA analysis verified that the splice acceptor site variant results in two mutant transcripts, one with an exon 9 skip and one in which exons 9 and 10 are deleted. SEC23B mRNA levels in the patient were lower than those in healthy controls. The patient was also homozygous for the UGT1A1*6 allele, consistent with GS. CONCLUSION: Identification of the novel splice variant in this study further expands the spectrum of known SEC23B gene mutations. Molecular genetic approaches can lead to accurate diagnosis and management of CDA Ⅱ patients, particularly for those with GS coexisting.


Assuntos
Anemia Diseritropoética Congênita , Doença de Gilbert , Proteínas de Transporte Vesicular , Humanos , Anemia Diseritropoética Congênita/genética , Anemia Diseritropoética Congênita/diagnóstico , Masculino , Proteínas de Transporte Vesicular/genética , Doença de Gilbert/genética , Doença de Gilbert/complicações , Doença de Gilbert/diagnóstico , Splicing de RNA , Mutação
12.
Viruses ; 16(3)2024 Mar 20.
Artigo em Inglês | MEDLINE | ID: mdl-38543842

RESUMO

Coxsackievirus A6 (CV-A6) has emerged as the predominant causative agent of hand, foot, and mouth disease (HFMD) in young children. Since the declaration of coronavirus disease 2019 (COVID-19) as a global pandemic, the incidence of infectious diseases, including HFMD, has decreased markedly. When social mitigation was relaxed during the COVID-19 pandemic in 2022, the re-emergence of HFMD was observed in Gwangju, South Korea, and seasonal characteristics of the disease appeared to have changed. To investigate the molecular characteristics of enterovirus (EV) associated with HFMD during 2022, 277 specimens were collected. Children aged younger than 5 years accounted for the majority of affected individuals. EV detection and genotyping were performed using real-time RT-PCR and nested RT-PCR followed by sequence analysis. The EV detection rate was found to be 82.3%, and the main genotype identified was CV-A6. Sixteen CV-A6 samples were selected for whole genome sequencing. According to phylogenetic analysis, all CV-A6 strains from this study belonged to the sub-genotype D3 clade based on VP1 sequences. Analysis of 3D polymerase phylogeny showed that only the recombinant RF-A group was identified. In conclusion, circulating EV types should be continuously monitored to understand pathogen emergence and evolution during the post-pandemic era.


Assuntos
Enterovirus , Doença de Mão, Pé e Boca , Criança , Humanos , Pré-Escolar , Doença de Mão, Pé e Boca/epidemiologia , Filogenia , Pandemias , Enterovirus/genética , Antígenos Virais/genética , Reação em Cadeia da Polimerase em Tempo Real , Genótipo , China/epidemiologia
13.
Sci Rep ; 14(1): 7306, 2024 03 27.
Artigo em Inglês | MEDLINE | ID: mdl-38538849

RESUMO

This retrospective study aimed to compare objective/subjective torsion and other clinical characteristics of patients with acquired trochlear nerve palsy. This study included 82 consecutive patients who were diagnosed with acquired fourth cranial nerve palsy between 2014 and 2021 and who were followed up for ≥ 6 months. The etiologies, ocular deviation, objective and subjective torsions were reviewed. The etiologies were classified as ischemic, traumatic, brain lesion, idiopathic, or other. The patients were classified into two groups according to the recovery state: full recovery and partial/no-recovery. We compared the torsion and clinical features based on the etiology and recovery state. The average age was 59.1 ± 11.1 years, and 58 (71.0%) of the patients were male. The most common cause was ischemic (n = 49, 59.7%) and other common causes included traumatic (n = 16, 19.5%), brain lesion (n = 8, 9.8%), idiopathic (n = 5, 6.1%) and others (n = 4, 4.9%). Of the 82 patients, 56 (68.3%) were assigned to the full recovery group, and 26 (31.7%) were assigned to the partial/no-recovery group. The average age and number of patients with ischemic causes of palsy were greater in the full recovery group (p = 0.026 and p < 0.000, respectively). The vertical deviation angle, tilted angle on the Lancaster red-green test (LRGT), proportion of patients who experienced subjective torsion on the LRGT, and head tilt were smaller in the full recovery group (p = 0.037, 0.042, 0.045, and 0.006, respectively). Ischemic trochlear nerve palsy, advanced age, a small deviation angle at the primary position, and few cases of excyclotorsion on LRGT were characteristic of the full recovery group of acquired unilateral trochlear nerve palsy patients.


Assuntos
Doenças do Nervo Troclear , Humanos , Masculino , Pessoa de Meia-Idade , Idoso , Feminino , Doenças do Nervo Troclear/etiologia , Doenças do Nervo Troclear/diagnóstico , Estudos Retrospectivos , Paralisia , Anormalidade Torcional
14.
Medicina (Kaunas) ; 60(3)2024 Mar 08.
Artigo em Inglês | MEDLINE | ID: mdl-38541178

RESUMO

Background and Objectives: This study addresses the challenge of bone regeneration in calvarial defects, exploring the efficacy of stem cell-based therapies and enamel matrix derivative (EMD) in tissue engineering. It assesses the regenerative potential of two- and three-dimensional cell constructs combined with mesenchymal stem cells (MSCs) and EMD in rabbit calvarial defects. Materials and Methods: This research involved the use of bone-marrow-derived MSCs cultured in silicon elastomer-based concave microwells to form spheroids. White rabbits were grouped for different treatments, with Group 1 as control, Group 2 receiving only EMD, Group 3 getting EMD plus stem cells, and Group 4 being treated with EMD plus stem cell spheroids. Computed tomography (CT) and microcomputed tomography (micro-CT) imaging were used for structural assessment, while histological evaluations were conducted using hematoxylin and eosin, Masson's trichrome, and Picro-sirius red staining. Results: CT and micro-CT analyses revealed varying degrees of bone regeneration among the groups. Group 4, treated with three-dimensional MSC spheroids and EMD, showed the most significant improvement in bone regeneration. Histological analyses corroborated these findings, with Group 4 displaying enhanced bone formation and better collagen fiber organization. Conclusions: The study supported the biocompatibility and potential efficacy of three-dimensional MSC constructs combined with EMD in bone regeneration. Further investigations are needed to confirm these findings and optimize treatment protocols.


Assuntos
Proteínas do Esmalte Dentário , Células-Tronco Mesenquimais , Osteogênese , Animais , Coelhos , Microtomografia por Raio-X , Regeneração Óssea
15.
Parasites Hosts Dis ; 62(1): 30-41, 2024 Feb.
Artigo em Inglês | MEDLINE | ID: mdl-38443768

RESUMO

The dense granule protein of Toxoplasma gondii, inhibitor of signal transducer and activator of transcription 1 (IST) is an inhibitor of signal transducer and activator of transcription 1 (STAT1) transcriptional activity that binds to STAT1 and regulates the expression of inflammatory molecules in host cells. A sterile inflammatory liver injury in pathological acute liver failures occurs when excessive innate immune function, such as the massive release of IFN-γ and TNF-α, is activated without infection. In relation to inflammatory liver injury, we hypothesized that Toxoplasma gondii inhibitor of STAT1 transcription (TgIST) can inhibit the inflammatory response induced by activating the STAT1/IRF-1 mechanism in liver inflammation. This study used IFN-γ and TNF-α as inflammatory inducers at the cellular level of murine hepatocytes (Hepa-1c1c7) to determine whether TgIST inhibits the STAT1/IRF-1 axis. In stable cells transfected with TgIST, STAT1 expression decreased with a decrease in interferon regulatory factor (IRF)-1 levels. Furthermore, STAT1 inhibition of TgIST resulted in lower levels of NF-κB and COX2, as well as significantly lower levels of class II transactivator (CIITA), iNOS, and chemokines (CLXCL9/10/11). TgIST also significantly reduced the expression of hepatocyte proapoptotic markers (Caspase3/8/9, P53, and BAX), which are linked to sterile inflammatory liver injury. TgIST also reduced the expression of adhesion (ICAM-1 and VCAM-1) and infiltration markers of programmed death-ligand 1 (PD-L1) induced by hepatocyte and tissue damage. TgIST restored the cell apoptosis induced by IFN-γ/TNF-α stimulation. These results suggest that TgIST can inhibit STAT1-mediated inflammatory and apoptotic responses in hepatocytes stimulated with proinflammatory cytokines.


Assuntos
Toxoplasma , Fator de Necrose Tumoral alfa , Animais , Camundongos , Fator de Transcrição STAT1/genética , Hepatócitos , Transdução de Sinais
16.
Accid Anal Prev ; 200: 107501, 2024 Jun.
Artigo em Inglês | MEDLINE | ID: mdl-38471236

RESUMO

Human drivers are gradually being replaced by highly automated driving systems, and this trend is expected to persist. The response of autonomous vehicles to Ambiguous Driving Scenarios (ADS) is crucial for legal and safety reasons. Our research focuses on establishing a robust framework for developing ADS in autonomous vehicles and classifying them based on AV user perceptions. To achieve this, we conducted extensive literature reviews, in-depth interviews with industry experts, a comprehensive questionnaire survey, and factor analysis. We created 28 diverse ambiguous driving scenarios and examined 548 AV users' perspectives on moral, ethical, legal, utility, and safety aspects. Based on the results, we grouped ADS, with all of them having the highest user perception of safety. We classified these scenarios where autonomous vehicles yield to others as moral, bottleneck scenarios as ethical, cross-over scenarios as legal, and scenarios where vehicles come to a halt as utility-related. Additionally, this study is expected to make a valuable contribution to the field of self-driving cars by presenting new perspectives on policy and algorithm development, aiming to improve the safety and convenience of autonomous driving.


Assuntos
Condução de Veículo , Humanos , Acidentes de Trânsito/prevenção & controle , Veículos Autônomos , Automação , Algoritmos
17.
Ann Pediatr Endocrinol Metab ; 29(1): 38-45, 2024 Feb.
Artigo em Inglês | MEDLINE | ID: mdl-38461804

RESUMO

PURPOSE: We used next-generation sequencing (NGS) to investigate the genetic causes of suspected genetic short stature in 37 patients, and we describe their phenotypes and various genetic spectra. METHODS: We reviewed the medical records of 50 patients who underwent genetic testing using NGS for suspected genetic short stature from June 2019 to December 2022. Patients with short stature caused by nongenetic factors or common chromosomal abnormalities were excluded. Thirty-seven patients from 35 families were enrolled in this study. We administered one of three genetic tests (2 targeted panel tests or whole exome sequencing) to patients according to their phenotypes. RESULTS: Clinical and molecular diagnoses were confirmed in 15 of the 37 patients, for an overall diagnostic yield of 40.5%. Fifteen pathogenic/likely pathogenic variants were identified in 13 genes (ACAN, ANKRD11, ARID1B, CEP152, COL10A1, COL1A2, EXT1, FGFR3, NIPBL, NRAS, PTPN11, SHOX, SLC16A2). The diagnostic rate was highest in patients who were small for their gestational age (7 of 11, 63.6%). CONCLUSION: Genetic evaluation using NGS can be helpful in patients with suspected genetic short stature who have clinical and genetic heterogeneity. Further studies are needed to develop patient selection algorithms and panels containing growth-related genes.

18.
PLoS One ; 19(3): e0300029, 2024.
Artigo em Inglês | MEDLINE | ID: mdl-38470865

RESUMO

BACKGROUND: Perforation is one of the most serious complications of endoscopic retrograde cholangiopancreatography (ERCP). Conventional nonsurgical endoscopic treatments including intravenous antibiotic administration and plastic endoscopic biliary drainage are generally approved for the treatment of ERCP-related Stapfer type II perforation (perivaterian type). Biliary covered metal stent placement has recently been reported to have favorable outcomes in ERCP-related Stapfer type II perforations. We aimed to compare the outcomes of conventional endoscopic bile drainage and biliary covered self-expandable metal stent (SEMS) insertion in patients with Stapfer type II perforation. METHODS: Medical records of patients who underwent ERCP at Kyungpook National University Hospital in Daegu from 2011 to 2022 were retrospectively reviewed. RESULTS: A total of 8,402 ERCP procedures were performed in our hospital. Sixty-six ERCP-related perforations (0.78%) were identified. Among them, 37 patients (56.1%) who had Stapfer type II perforations were enrolled. Thirteen and twenty-four patients received biliary covered SEMS insertion and conventional endoscopic bile drainage treatments, respectively. No significant differences were observed in the clinical success rate (92.3% vs. 91.7%, p = 1.000), hospital stay (9.46 ± 5.97 vs. 13.9 ± 13.2 days, p = 0.258), and post-ERCP-related fasting time (5.4 ± 3.4 vs 4.3 ± 3.0 days, p = 0.305). Complications including bleeding, post-ERCP pancreatitis, fever, and death were not significantly different between the two groups. The conventional endoscopic bile drainage group took less time for ERCP than the SEMS group (11.5 ± 5.2 vs. 18.5 ± 11.2 min, p = 0.013). CONCLUSIONS: Compared with the conventional endoscopic bile drainage treatment method, biliary covered SEMS did not improve patient outcomes in ERCP-related Stapfer type II perforations.


Assuntos
Bile , Colangiopancreatografia Retrógrada Endoscópica , Humanos , Estudos Retrospectivos , Stents , Drenagem/métodos , Resultado do Tratamento
19.
Int J Biol Macromol ; 264(Pt 2): 130732, 2024 Apr.
Artigo em Inglês | MEDLINE | ID: mdl-38479658

RESUMO

Nanocellulose-based tissue adhesives show promise for achieving rapid hemostasis and effective wound healing. Conventional methods, such as sutures and staples, have limitations, prompting the exploration of bioadhesives for direct wound adhesion and minimal tissue damage. Nanocellulose, a hydrolysis product of cellulose, exhibits superior biocompatibility and multifunctional properties, gaining interest as a base material for bioadhesive development. This study explores the potential of nanocellulose-based adhesives for hemostasis and wound healing using 3D printing techniques. Nanocellulose enables the creation of biodegradable adhesives with minimal adverse effects and opens avenues for advanced wound healing and complex tissue regeneration, such as skin, blood vessels, lungs, cartilage, and muscle. This study reviews recent trends in various nanocellulose-based 3D printed hydrogel patches for tissue engineering applications. The review also introduces various types of nanocellulose and their synthesis, surface modification, and bioadhesive fabrication techniques via 3D printing for smart wound healing.


Assuntos
Adesivos , Hidrogéis , Hidrogéis/farmacologia , Engenharia Tecidual , Cartilagem , Impressão Tridimensional
20.
Br J Cancer ; 130(9): 1571-1584, 2024 May.
Artigo em Inglês | MEDLINE | ID: mdl-38467827

RESUMO

BACKGROUND: Molecular analysis of advanced tumors can increase tumor heterogeneity and selection bias. We developed a robust prognostic signature for gastric cancer by comparing RNA expression between very rare early gastric cancers invading only mucosal layer (mEGCs) with lymph node metastasis (Npos) and those without metastasis (Nneg). METHODS: Out of 1003 mEGCs, all Npos were matched to Nneg using propensity scores. Machine learning approach comparing Npos and Nneg was used to develop prognostic signature. The function and robustness of prognostic signature was validated using cell lines and external datasets. RESULTS: Extensive machine learning with cross-validation identified the prognostic classifier consisting of four overexpressed genes (HDAC5, NPM1, DTX3, and PPP3R1) and two downregulated genes (MED12 and TP53), and enabled us to develop the risk score predicting poor prognosis. Cell lines engineered to high-risk score showed increased invasion, migration, and resistance to 5-FU and Oxaliplatin but maintained sensitivity to an HDAC inhibitor. Mouse models after tail vein injection of cell lines with high-risk score revealed increased metastasis. In three external cohorts, our risk score was identified as the independent prognostic factor for overall and recurrence-free survival. CONCLUSION: The risk score from the 6-gene classifier can successfully predict the prognosis of gastric cancer.


Assuntos
Biomarcadores Tumorais , Mucosa Gástrica , Neoplasias Gástricas , Neoplasias Gástricas/genética , Neoplasias Gástricas/patologia , Neoplasias Gástricas/mortalidade , Humanos , Prognóstico , Animais , Camundongos , Biomarcadores Tumorais/genética , Biomarcadores Tumorais/metabolismo , Mucosa Gástrica/patologia , Mucosa Gástrica/metabolismo , Metástase Linfática/genética , Feminino , Masculino , Linhagem Celular Tumoral , Regulação Neoplásica da Expressão Gênica , Aprendizado de Máquina , Pessoa de Meia-Idade
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