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1.
BMB Rep ; 2024 Sep 02.
Artigo em Inglês | MEDLINE | ID: mdl-39219047

RESUMO

Hepatocellular carcinoma (HCC) is the most common form of primary liver cancer. HCC occurs people with chronic liver diseases. The purinergic receptor P2X 7 (P2RX7) is involved in tumor proliferation and growth. Also, P2RX7 is associated with tumor invasion and metastatic dissemination. High glucose utilization is important for the survival of various types of tumors. However, the role of P2RX7 in glucose metabolism and cellular survival of HCC remains unclear. Here, our results show that the gene and protein levels of P2RX7 were elevated in tumor cells of patients with HCC. The pharmacological inhibition of P2RX7 by A-804598, a selective P2RX7 antagonist, and genetic inhibition by P2RX7 knockdown suppressed the glycolytic activity by reduction of hexokinase 2 (HK2), a key enzyme of the glycolysis pathway, in human HCC cells. Also, both A-804598 treatment and P2RX7 knockdown induced cytotoxicity via inhibition of AKT activation which is critical for tumor cell survival in human HCC cells. Moreover, A-804598 treatment and P2RX7 knockdown increased cytotoxicity and caspase-3 activation in human HCC cells. These results suggest that inhibition of P2RX7 contributes to cytotoxicity by suppression of glycolysis and AKT activation in human HCC.

2.
Crisis ; 2024 Sep 10.
Artigo em Inglês | MEDLINE | ID: mdl-39252531

RESUMO

Background: Prior work has explored the impact of follow-up calls in a crisis line context, but no research has investigated the offer and acceptance of follow-up care. Aims: To identify caller/call characteristics associated with whether a caller is offered and accepts follow-up services. Methods: This cross-sectional study included data from 55,594 callers to a member center of the 988 Suicide & Crisis Lifeline (988) between 2017 and 2019. Logistic regression analyses were conducted to examine associations between caller/call characteristics and two follow-up outcomes. Results: Black callers and those with higher suicide capability and intent had greater odds of being offered and accepting follow-up. Longer call duration was also associated with higher odds of being offered and accepting follow-up. Higher suicidal desire uniquely increased the odds of offers, whereas a higher level of buffers uniquely decreased the odds of offers. Limitations: Data were collected from a single 988-member center and cannot be generalized. Conclusions: That one-third of callers do not accept follow-up highlights the need to understand reasons for not accepting follow-up. That callers with higher risk profiles are offered and accept follow-up at higher rates is reassuring and underscores the benefit of tailoring follow-up interventions for higher-risk callers.

3.
Korean J Fam Med ; 2024 Aug 20.
Artigo em Inglês | MEDLINE | ID: mdl-39160688

RESUMO

Background: Insulin resistance contributes to the development of cardiovascular disease and type 2 diabetes mellitus. Smoking leads to an increase in triglyceride levels, which, in turn, increases insulin resistance. Although the number of e-cigarette users has increased in recent years, few studies have investigated the association between ecigarette use and insulin resistance. Therefore, this study aimed to determine the association between e-cigarette use and insulin resistance using the triglyceride-glucose (TyG) index in Korean adults. Methods: This study included 4,404 healthy adults aged ≥20 years who participated in the Korea National Health and Nutrition Examination Survey between 2019 and 2020. Participants were categorized as never-smokers or ecigarette users, and the TyG index was categorized into low- and high-TyG index groups according to the median value (9.22). A logistic regression analysis was performed to determine the association between e-cigarette smoking and insulin resistance. Results: E-cigarette users had a higher TyG index than never smokers (e-cigarette: mean=3.95; never: mean=9.18; P<0.001). The e-cigarette users had a higher risk of being in the high TyG index group than never-smokers (odds ratio [OR], 1.38; 95% confidence interval [CI], 1.03-1.84). In the subgroup analysis stratified by sex, age, and body mass index, a higher OR for a high TyG index was observed in men (OR, 1.46; 95% CI, 1.03-2.08) and individuals aged 60 years or older (OR, 3.74; 95% CI, 1.14-12.30). Conclusion: Our findings suggest that e-cigarette use is significantly associated with insulin resistance.

4.
Sci Rep ; 14(1): 20252, 2024 08 31.
Artigo em Inglês | MEDLINE | ID: mdl-39215119

RESUMO

The prevalence and dynamics of circulating tumor DNA (ctDNA) in patients with breast cancer recurrence or de novo metastatic cancer were examined in a retrospective analysis of a prospective observational cohort. Twenty-three recurrent/metastatic breast cancer cases (8 locoregional, 15 distant metastasis) were enrolled, and sequential plasma samples were obtained. Anchor mutations were selected from the target sequencing of each patient's primary and/or metastatic tumor. An in-house developed assay (UHS assay) was employed for a tumor-informed ctDNA assay during treatment and follow-up. A median of three (range 1-5) anchor mutations per case were applied for ctDNA detection. ctDNA was detected in 14 (63.6%, 14/22) cases at the time of enrollment and 18 (78.5%, 18/23) cases during follow-up. More anchor mutations and higher tumor burden were significantly related to higher ctDNA positive rates (p-value 0.036, 0.043, respectively). The mean enriched variant allele frequency (eVAF) at each time point was significantly higher for stable or progressive disease responses (ANOVA test p-value < 0.001). Eight patients showed an increase in their ctDNA eVAF prior to clinical progression with a mean lead time of 6.2 months (range 1.5-11 months). ctDNA dynamics measured using personalized assay reflected the clinical course of breast cancer recurrence.


Assuntos
Neoplasias da Mama , DNA Tumoral Circulante , Mutação , Recidiva Local de Neoplasia , Humanos , Neoplasias da Mama/genética , Neoplasias da Mama/sangue , Neoplasias da Mama/patologia , Neoplasias da Mama/terapia , DNA Tumoral Circulante/sangue , DNA Tumoral Circulante/genética , Feminino , Pessoa de Meia-Idade , Recidiva Local de Neoplasia/genética , Recidiva Local de Neoplasia/sangue , Idoso , Adulto , Estudos Retrospectivos , Biomarcadores Tumorais/sangue , Biomarcadores Tumorais/genética , Estudos Prospectivos , Estudos Longitudinais
5.
J Phys Chem Lett ; 15(34): 8676-8681, 2024 Aug 29.
Artigo em Inglês | MEDLINE | ID: mdl-39159009

RESUMO

Organic charge-transfer complex (CTC) formation has emerged as an effective molecular engineering strategy for achieving the desired optical properties via intermolecular interactions. By synthesizing organic CTCs with carbazole-based electron donors and a 7,7,8,8-tetracyanoquinodimethane acceptor and adopting a molecular linker located remotely from the charge-transfer interface within the donors, we were able to modulate near-infrared absorptive and short-wavelength infrared emissive properties. Structural characterizations performed by using single-crystal X-ray diffraction confirmed that the unique molecular arrangements induced by the steric hindrance from the remotely located linker significantly influence the electronic interactions between the donor and acceptor molecules, resulting in different photophysical properties. Our findings offer an improved understanding of the interplay between molecular packing and optoelectronic properties, providing a foundation for designing advanced materials for optoelectronic applications.

6.
J Craniofac Surg ; 2024 Aug 29.
Artigo em Inglês | MEDLINE | ID: mdl-39207154

RESUMO

Rhinoplasty is one of the most commonly performed plastic surgical procedures. It has been reported that the overall incidence of complications is low, and hematoma is the most common complication. Recently, the authors experienced a young patient who developed nasal dorsal bleeding and hematoma formation 2 weeks after undergoing rhinoplasty. He had a history of hypertension and was on medication. Due to severe nasal dorsal swelling caused by bleeding and hematoma, the authors ultimately performed an open approach to control the bleeding and evacuate the hematoma. Herein, the authors report the case of a patient with delayed dorsal bleeding 2 weeks after rhinoplasty. The authors learned a lesson that although the patient was young and healthy, in patients with a history of hypertension, the possibility of delayed operative site bleeding should be considered.

7.
Phytochemistry ; 226: 114205, 2024 Oct.
Artigo em Inglês | MEDLINE | ID: mdl-38971497

RESUMO

From the Cynanchum wilfordii roots, 32 compounds, including 5 previously undescribed (1, 4-6, 12) and 27 known (2, 3, 7-11, 13-32) compounds, were isolated, and their structures were elucidated using NMR spectroscopic data and MS data aided by ECD calculations or the modified Mosher's reaction. All isolates were tested for their inhibitory effects on proprotein convertase subtilisin/kexin type 9 (PCSK9) secretion. Among the isolates, compound 4, a methyl cholesterol analog, exhibited the most potent effect in reducing PCSK9 secretion, along with PCSK9 downregulation at the mRNA and protein levels via FOXO1/3 upregulation. Moreover, compound 4 attenuated statin-induced PCSK9 expression and enhanced the uptake of DiI-LDL low-density lipoprotein. Thus, compound 4 is suggested to be a potential candidate for controlling cholesterol levels.


Assuntos
Cynanchum , Inibidores de PCSK9 , Raízes de Plantas , Pró-Proteína Convertase 9 , Raízes de Plantas/química , Pró-Proteína Convertase 9/metabolismo , Cynanchum/química , Humanos , Estrutura Molecular , Relação Estrutura-Atividade , Relação Dose-Resposta a Droga
8.
Prev Nutr Food Sci ; 29(2): 220-227, 2024 Jun 30.
Artigo em Inglês | MEDLINE | ID: mdl-38974593

RESUMO

Here, we aimed to isolate an acetic acid bacterium that is suitable for the production of unripe Citrus unshiu vinegar from traditional fermented vinegars. We compared the halo sizes of isolates to select a strain with superior acetic acid production capabilities and selected Komagataeibacter kakiaceti P6 (P6) as the final strain. Using Acetobacter pasteurianus CY (CY) and A. pasteurianus KACC 17058 (KACC 17058) as controls, we analyzed the total phenolic compounds, total flavonoid content, antioxidant activities, and organic acids of the selected strain to verify its suitability for acetic acid fermentation. On the 30th day of the fermentation period, P6 showed a total acidity of 4.86%, which was higher than that of control groups (CY, 4.16%; KACC 17058, 4.01%). The total phenolic compounds, total flavonoid content, 1,1-diphenyl-2-picrylhydrazyl scavenging activity, and ferric ion reducing antioxidant power values significantly increased during fermentation with P6 compared with the initial C. unshiu wine, and no significant differences were observed from the vinegars produced by CY and KACC 17058. Moreover, organic acid analysis revealed that the unripe C. unshiu vinegar produced with P6 had an acetic acid content of 26.15 mg/mL, which was significantly higher than those produced with CY and KACC 17058, indicating that the P6 strain effectively produces acetic acid without adversely affecting other quality aspects during fermentation. In conclusion, the novel P6 strain is expected to be used as a starter for fermenting unripe C. unshiu vinegar, and its excellent acetic acid production capabilities suggest potential applications for other vinegars.

9.
Front Oncol ; 14: 1392592, 2024.
Artigo em Inglês | MEDLINE | ID: mdl-39007102

RESUMO

Introduction: Male breast cancer (MBC) is a rare condition, and recent research has underscored notable distinctions between MBC and breast cancer in women. This study aimed to assess and contrast the long-term survival outcomes and disease patterns of MBC patients with those of their female counterparts. Methods: We analyzed data from 113,845 patients diagnosed with breast cancer who had undergone curative surgery from the Korean Breast Cancer Registry (KBCR) between January 1990 and August 2014 in Seoul, Korea. The five-year overall survival was analyzed according to clinicopathological characteristics. Results: Among 113,845 patients with breast cancer, 473 MBC cases were included. The median duration of follow-up was 72 months. The median age at diagnosis was 60 and 48 years for MBC and female breast cancer, respectively. Most male patients (92.6%) underwent total mastectomy, while 50.4% of female patients underwent breast-conserving surgery. Among MBC, 63.2% received chemotherapy, and 83.9% of hormone receptor-positive male patients received endocrine therapy. In survival analysis, MBC demonstrated distinct 5-year overall survival patterns compared with female breast cancer, according to age at diagnosis. In women with breast cancer, the younger age group (≤40 years) demonstrated worse 5-year overall survival than did the older age group (>40 years) (91.3% vs 92.7%, p <0.05). While in MBC, the younger age group (≤40 years) demonstrated better 5-year overall survival than did the older age group (>40 years) (97.4% vs 86.4%, p <0.05). Discussion: In conclusion within this extensive cohort, we have revealed unique survival patterns in MBC that diverge from those observed in women with breast cancer. This study enhances our comprehension of MBC prognosis and can potentially shed light on unresolved questions, paving the way for future research in the realm of MBC.

10.
Nutrients ; 16(13)2024 Jul 08.
Artigo em Inglês | MEDLINE | ID: mdl-38999914

RESUMO

Elevated uric acid levels are linked with obesity and diabetes. Existing research mainly examines the relationship between sugar-sweetened carbonated beverage (SSB) consumption and uric acid levels. This study explored the association between the quantity and frequency of SSB consumption and elevated uric acid levels in Korean adults. Data from 2881 participants aged 19-64 years (1066 men and 1815 women) in the 2016 Korea National Health and Nutrition Examination Survey were analyzed. Serum uric acid levels were categorized into quartiles, with the highest defined as high uric acid (men, ≥6.7 mg/dL; women, ≥4.8 mg/dL). SSB consumption was classified into quartiles (almost never, <1 cup (<200 mL), 1-3 cups (200-600 mL), ≥3 cups (≥600 mL)) and frequency into tertiles (almost never, ≤1/week, ≥2/week). Multivariate logistic regression assessed the association, with separate analyses for men and women. Increased daily SSB consumption and frequency were significantly associated with high uric acid levels in men but not in women. After adjusting for sociodemographic and health characteristics, consuming ≥3 cups (≥600 mL) of SSBs per day and SSBs ≥ 2/week were significantly associated with high serum uric acid levels in men, but this association was not observed in women. The study concludes that increased SSB intake is linked to elevated uric acid levels in Korean men, but not in women.


Assuntos
Bebidas Gaseificadas , Inquéritos Nutricionais , Bebidas Adoçadas com Açúcar , Ácido Úrico , Humanos , Ácido Úrico/sangue , Feminino , Masculino , República da Coreia , Adulto , Pessoa de Meia-Idade , Bebidas Gaseificadas/estatística & dados numéricos , Bebidas Adoçadas com Açúcar/estatística & dados numéricos , Bebidas Adoçadas com Açúcar/efeitos adversos , Adulto Jovem , Estudos Transversais
11.
Discov Oncol ; 15(1): 288, 2024 Jul 17.
Artigo em Inglês | MEDLINE | ID: mdl-39017974

RESUMO

PURPOSE: This research aimed to clarify the impact of residual ductal carcinoma in situ(DCIS) in surgical specimens obtained after neoadjuvant chemotherapy(NAC) for breast cancer on the associated prognosis outcomes. METHODS: This retrospective study was performed on a cohort of 1,009 patients who achieved pCR following NAC for breast cancer and underwent subsequent breast surgery at a single institution between January 2008 and December 2019. Overall survival, local recurrence-free survival, distant metastasis-free survival, and disease-free survival of the residual and non-residual DCIS groups were the outcomes compared, with further subgroup analysis performed according to hormone receptor status. RESULTS: 260 individuals (25.8%) presented with residual DCIS. Based on a median follow-up of 54.0 months, no significant differences in outcomes were observed between the two groups. Patients with residual DCIS and hormone receptor-negative (HR-) breast cancer demonstrated a significant decrease in distant metastasis-free survival (p = 0.030) compared to those without residual DCIS. In the HR + cohort, no significant difference was observed between the two groups. Multivariate analysis of the HR- cohort demonstrated a significant association between residual DCIS and an elevated risk for distant recurrence (hazard ratio = 2.3, 95% confidence interval = 1.01-5.20, p = 0.047). CONCLUSIONS: Residual DCIS following NAC may impact breast cancer outcomes, particularly with respect to the occurrence of distant metastasis in HR- patients. Therefore, clinicians must vigilantly monitor patients with residual DCIS after NAC, and further research is needed to expand our understanding of the clinical implications of residual DCIS.

12.
Ann Surg Treat Res ; 107(1): 8-15, 2024 Jul.
Artigo em Inglês | MEDLINE | ID: mdl-38978689

RESUMO

Purpose: Tumescent in nipple-sparing mastectomy (NSM) has been reported to increase the risk of necrosis by impairing blood flow to the skin flap and nipple-areolar complex. At our institution, we introduced a tumescent-free robotic NSM using the da Vinci single-port system (Intuitive Surgical, Inc.). Methods: We conducted a retrospective analysis of patients who underwent tumescent-free robotic NSM between October 2020 and March 2023 at Asan Medical Center (Seoul, Korea). Clinicopathological characteristics, adverse events, and operative time were evaluated. Results: During the study period, 118 patients underwent tumescent-free robotic NSM. Thirty-one patients (26.3%) experienced an adverse event. Five patients (4.2%) were classified as grade III based on the Clavien-Dindo classification and required surgery. The mean total operative time was 467 minutes for autologous tissue reconstruction (n = 49) and 252 minutes for implants (n = 69). No correlation was found between the cumulative number of surgical cases and the breast operative time (P = 0.30, 0.52, 0.59 for surgeons A, B, C) for the 3 surgeons. However, a significant linear relationship (P < 0.001) was observed, with the operative time increasing by 13 minutes for every 100-g increase in specimen weight. Conclusion: Tumescent-free robotic NSM is a safe procedure with a feasible operative time and few adverse events.

13.
Korean J Fam Med ; 2024 Jul 05.
Artigo em Inglês | MEDLINE | ID: mdl-38965838

RESUMO

Background: Skipping breakfast is associated with an increased risk of chronic inflammatory diseases. This study aimed to examine the association between breakfast-eating habits and inflammation, using high-sensitivity C-reactive protein (hs-CRP) as a marker. Methods: A total of 4,000 Korean adult males with no history of myocardial infarction, angina, stroke, diabetes, rheumatoid arthritis, cancer, or current smoking were included. Data from the 2016-2018 Korea National Health and Nutrition Examination Survey were used for analysis. The frequency of breakfast consumption was assessed through a questionnaire item in the dietary survey section asking participants about their weekly breakfast consumption routines over the past year. Participants were categorized into two groups, namely "0-2 breakfasts per week" and "3-7 breakfasts per week"; hs-CRP concentrations were measured through blood tests. Results: Comparing between the "infrequent breakfast consumption (0-2 breakfasts per week)" and "frequent breakfast consumption (3-7 breakfasts per week)" groups, the mean hs-CRP was found to be significantly higher in the "infrequent breakfast consumption" group, even after adjusting for age, body mass index, physical activity, alcohol consumption, systolic blood pressure, blood pressure medication, fasting blood glucose, and triglycerides (mean hs-CRP: frequent breakfast consumption, 1.36±0.09 mg/L; infrequent breakfast consumption, 1.17±0.05 mg/L; P-value=0.036). Conclusion: Less frequent breakfast consumption was associated with elevated hs-CRP levels. Further large-scale studies incorporating adjusted measures of daily eating patterns as well as food quality and quantity are required for a deeper understanding of the role of breakfast in the primary prevention of chronic inflammatory diseases.

14.
Sci Rep ; 14(1): 13674, 2024 06 13.
Artigo em Inglês | MEDLINE | ID: mdl-38871788

RESUMO

Managing complications of liver cirrhosis such as varices needing treatment (VNT) and clinically significant portal hypertension (CSPH) demands precise and non-invasive diagnostic methods. This study assesses the efficacy of spleen stiffness measurement (SSM) using a 100-Hz probe for predicting VNT and CSPH, aiming to refine diagnostic thresholds. A retrospective analysis was conducted on 257 cirrhotic patients, comparing the diagnostic performance of SSM against traditional criteria, including Baveno VII, for predicting VNT and CSPH. The DeLong test was used for statistical comparisons among predictive models. The success rate of SSM@100 Hz was 94.60%, and factors related to SSM failure were high body mass index and small spleen volume or length. In our cohort, the identified SSM cut-off of 38.9 kPa, which achieved a sensitivity of 92% and a negative predictive value (NPV) of 98% for detecting VNT, is clinically nearly identical to the established Baveno threshold of 40 kPa. The predictive capability of the SSM-based model for VNT was superior to the LSM ± PLT model (p = 0.017). For CSPH prediction, the SSM model notably outperformed existing non-invasive tests (NITs), with an AUC improvement and significant correlations with HVPG measurements (obtained from 49 patients), highlighting a correlation coefficient of 0.486 (p < 0.001) between SSM and HVPG. Therefore, incorporating SSM into clinical practice significantly enhances the prediction accuracy for both VNT and CSPH in cirrhosis patients, mainly due to the high correlation between SSM and HVPG. SSM@100 Hz can offer valuable clinical assistance in avoiding unnecessary endoscopy in these patients.


Assuntos
Técnicas de Imagem por Elasticidade , Hipertensão Portal , Cirrose Hepática , Baço , Humanos , Cirrose Hepática/complicações , Cirrose Hepática/diagnóstico , Masculino , Pessoa de Meia-Idade , Feminino , Baço/patologia , Hipertensão Portal/diagnóstico , Hipertensão Portal/fisiopatologia , Estudos Retrospectivos , Idoso , Técnicas de Imagem por Elasticidade/métodos , Varizes Esofágicas e Gástricas/diagnóstico , Varizes Esofágicas e Gástricas/etiologia , Adulto
15.
Clin Immunol ; 265: 110289, 2024 Aug.
Artigo em Inglês | MEDLINE | ID: mdl-38908769

RESUMO

Our study aimed to expand tumor-infiltrating lymphocytes (TILs) from primary non-small cell lung cancers (NSCLCs) and evaluate their reactivity against tumor cells. We expanded TILs from 103 primary NSCLCs using histopathological analysis, flow cytometry, IFN-γ release assays, cell-mediated cytotoxicity assays, and in vivo efficacy tests. TIL expansion was observed in all cases, regardless of EGFR mutation status. There was also an increase in the median CD4+/CD8+ ratio during expansion. In post-rapid expansion protocol (REP) TILs, 13 out of 16 cases, including all three cases with EGFR mutations, exhibited a two-fold or greater increase in IFN-γ secretion. The cytotoxicity assay revealed enhanced tumor cell death in three of the seven cases, two of which had EGFR mutations. In vivo functional testing in a patient-derived xenograft model showed a reduction in tumor volume. The anti-tumor activity of post-REP TILs underscores their potential as a therapeutic option for advanced NSCLC, irrespective of mutation status.


Assuntos
Carcinoma Pulmonar de Células não Pequenas , Receptores ErbB , Neoplasias Pulmonares , Linfócitos do Interstício Tumoral , Mutação , Carcinoma Pulmonar de Células não Pequenas/genética , Carcinoma Pulmonar de Células não Pequenas/imunologia , Carcinoma Pulmonar de Células não Pequenas/patologia , Humanos , Linfócitos do Interstício Tumoral/imunologia , Neoplasias Pulmonares/genética , Neoplasias Pulmonares/imunologia , Neoplasias Pulmonares/patologia , Receptores ErbB/genética , Receptores ErbB/imunologia , Animais , Feminino , Masculino , Pessoa de Meia-Idade , Idoso , Camundongos , Interferon gama/genética , Interferon gama/imunologia , Adulto
16.
Adv Mater ; : e2403647, 2024 May 06.
Artigo em Inglês | MEDLINE | ID: mdl-38708960

RESUMO

The near-infrared (NIR) sensor technology is crucial for various applications such as autonomous driving and biometric tracking. Silicon photodetectors (SiPDs) are widely used in NIR applications; however, their scalability is limited by their crystalline properties. Organic photodetectors (OPDs) have attracted attention for NIR applications owing to their scalability, low-temperature processing, and notably low dark current density (JD), which is similar to that of SiPDs. However, the still high JD (at NIR band) and few measurements of noise equivalent powers (NEPs) pose challenges for accurate performance comparisons. This study addresses these issues by quantitatively characterizing the performance matrix and JD generation mechanism using electron-blocking layers (EBLs) in OPDs. The energy offset at an EBL/photosensitive layer interface determines the thermal activation energy and directly affects JD. A newly synthesized EBL (3PAFBr) substantially enhances the interfacial energy barrier by forming a homogeneous contact owing to the improved anchoring ability of 3PAFBr. As a result, the OPD with 3PAFBr yields a noise current of 852 aA (JD = 12.3 fA cm⁻2 at V → -0.1 V) and several femtowatt-scale NEPs. As far as it is known, this is an ultralow of JD in NIR OPDs. This emphasizes the necessity for quantitative performance characterization.

17.
Medicine (Baltimore) ; 103(21): e37247, 2024 May 24.
Artigo em Inglês | MEDLINE | ID: mdl-38787970

RESUMO

RATIONALE: Cartilage-hair hypoplasia (CHH, OMIM # 250250) is a rare autosomal recessive disorder, which includes cartilage-hair hypoplasia-anauxetic dysplasia (CHH-AD) spectrum disorders. CHH-AD is caused by homozygous or compound heterozygous mutations in the RNA component of the mitochondrial RNA-processing Endoribonuclease (RMRP) gene. PATIENT CONCERNS: Here, we report 2 cases of Korean children with CHH-AD. DIAGNOSES: In the first case, the patient had metaphyseal dysplasia without hypotrichosis, diagnosed by whole exome sequencing (WES), and exhibited only skeletal dysplasia and lacked extraskeletal manifestations, such as hair hypoplasia and immunodeficiency. In the second case, the patient had skeletal dysplasia, hair hypoplasia, and immunodeficiency, which were identified by WES. INTERVENTIONS: The second case is the first CHH reported in Korea. The patients in both cases received regular immune and lung function checkups. OUTCOMES: Our cases suggest that children with extremely short stature from birth, with or without extraskeletal manifestations, should include CHH-AD as a differential diagnosis. LESSONS SUBSECTIONS: Clinical suspicion is the most important and RMRP sequencing should be considered for the diagnosis of CHH-AD.


Assuntos
Cabelo , Doença de Hirschsprung , Mutação , Osteocondrodisplasias , Humanos , República da Coreia , Osteocondrodisplasias/genética , Osteocondrodisplasias/diagnóstico , Masculino , Feminino , Cabelo/anormalidades , Doença de Hirschsprung/genética , Doença de Hirschsprung/diagnóstico , Nanismo/genética , Nanismo/diagnóstico , Doenças da Imunodeficiência Primária/genética , Doenças da Imunodeficiência Primária/diagnóstico , Hipotricose/genética , Hipotricose/diagnóstico , Sequenciamento do Exoma , Lactente , Pré-Escolar , Endorribonucleases/genética , Criança , RNA Longo não Codificante
18.
Breast Cancer Res ; 26(1): 66, 2024 Apr 17.
Artigo em Inglês | MEDLINE | ID: mdl-38632652

RESUMO

BACKGROUND: This study investigated the feasibility of sentinel lymph node biopsy (SLNB) after neoadjuvant systemic therapy (NAST) in patients with initially high nodal burden. METHODS: In the multicenter retrospective cohort, 388 individuals with cN1-3 breast cancer who underwent NAST and had SLNB followed by completion axillary lymph node dissection were included. In an external validation cohort, 267 patients with HER2+ or triple-negative breast cancer (TNBC) meeting similar inclusion criteria were included. Primary outcome was the false-negative rates (FNRs) of SLNB according to the MRI response and subtypes. We defined complete MRI responders as patients who experienced disappearance of suspicious features in the breast and axilla after NAST. RESULTS: In the multicenter retrospective cohort, 130 (33.5%) of 388 patients were of cN2-3, and 55 (14.2%) of 388 patients showed complete MRI responses. In hormone receptor-positive HER2- (n = 207), complete and non-complete responders had a high FNRs (31.3% [95% CI 8.6-54.0] and 20.9% [95% CI 14.1-27.6], respectively). However, in HER2+ or TNBC (n = 181), the FNR of complete MRI responders was 0% (95% CI 0-0), whereas that of non-complete responders was 33.3% (95% CI 20.8-45.9). When we validated our findings in the external cohort with HER2+ or TNBC (n = 267), of which 34.2% were cN2-3, the FNRs of complete were 7.1% (95% CI 0-16.7). CONCLUSIONS: Our findings suggest that SLNB can be a reliable option for nodal status evaluation in selected patients who have responded well to NAST, especially in HER2+ and TNBC patients who show a complete MRI response.


Assuntos
Neoplasias da Mama , Neoplasias de Mama Triplo Negativas , Humanos , Feminino , Biópsia de Linfonodo Sentinela , Neoplasias da Mama/patologia , Terapia Neoadjuvante , Neoplasias de Mama Triplo Negativas/patologia , Estudos Retrospectivos , Excisão de Linfonodo , Linfonodos/patologia
19.
Food Chem X ; 22: 101368, 2024 Jun 30.
Artigo em Inglês | MEDLINE | ID: mdl-38645938

RESUMO

Distilled soju, a Korean traditional alcoholic beverage, is produced by fermenting rice with a variety of microorganisms including molds, yeasts, and lactic acid-producing bacteria, followed by distillation. Our study sought to improve the quality of distilled soju through co-fermentation with Saccharomyces cerevisiae and Wickerhamomyces anomalus, known for producing volatile aromatic compounds during the early stages of fermentation. Analysis of volatile aromatic compounds in co-fermented distilled soju revealed a substantial increase in compounds with boiling points below 200 °C. Among them, ethyl hexanoate, isobutanol, and isoamyl alcohol were identified as the major volatile aromatic compounds based on Log2 fold change analyses of the volatile aromatic compound pattern. In sensory evaluation, co-fermented distilled soju received higher scores in terms of odor and overall preference. Therefore, incorporating W. anomalus may improve the quality of distilled soju.

20.
J Clin Med ; 13(5)2024 Mar 06.
Artigo em Inglês | MEDLINE | ID: mdl-38592346

RESUMO

Background: Sarcopenia is defined as the loss of muscle mass and strength and low physical performance, and it is closely related to the risk of cardiovascular disease and mortality. Pulse pressure (PP) is a biomarker of arterial stiffness and compliance. Elevated PP levels increase the risk of cardiovascular diseases and all-cause mortality. Nevertheless, the association between PP and sarcopenia has not yet been clearly established. Methods: Participant data were extracted from the Korea National Health and Nutrition Examination Survey conducted from 2014 to 2020. The study population was classified into three groups (PP < 40 mmHg, 40 mmHg ≤ PP < 60 mmHg, and PP ≥ 60 mmHg). PP was calculated by deducting the diastolic blood pressure from the systolic blood pressure. For handgrip strength, the maximum value measured with a grip dynamometer was adopted (weak handgrip strength: <28 kg for men, <18 kg for woman; normal handgrip strength: ≥28 kg for men, ≥18 kg for women). To determine the relationship between PP and the prevalence of weak handgrip strength, multiple logistic regression analysis was performed after adjusting for possible confounding factors. Results: The higher PP group had a higher age, body mass index; systolic blood pressure, prevalence of hypertension, diabetes, hyperlipidemia, and metabolic syndrome, and maximum handgrip strength. In all models, the prevalence of weak handgrip strength was significantly higher in the group with PP ≥ 60 mmHg compared to the control group (PP < 40 mmHg). Conclusions: Elevated PP was significantly associated with a higher prevalence of weak muscle strength. Thus, PP monitoring may be used to identify individuals at risk of sarcopenia and is helpful in improving health outcomes.

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