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A 28-year-old woman was found to have coagulation factor â § activity (Fâ §â¶C) <1% and von Willebrand factor antigen (VWFâ¶Ag) <1% during routine prenatal examinations. No pathogenic variation was found in the exon region of the VWF gene using next-generation sequencing. The clinical presentation of this patient does not match the clinical characteristics of type â ¢ hemophilia [von Willebrand disease (VWD) ]; therefore, third-generation sequencing technology was used to perform whole-genome sequencing on the patient and her family members. Multiple members of the patient's paternal family carried a heterozygous variant of VPS33B, c.869G>C. The family members carrying this variant all had varying degrees of reduced VWF levels (39% -56% ). Moreover, the proband was detected with the heterozygous variant c.1474dupA in GP1BA. The ACMG and Clinvar databases determined that this variation was associated with platelet-type pseudo VWD. The decrease in VWF levels caused by heterozygous variations in VPS33B in families is the first international report, and no previous studies have reported cases of severe decrease in plasma VWF levels caused by double heterozygous variations in VPS33B and GP1BA.
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Mutação , Proteínas de Transporte Vesicular , Fator de von Willebrand , Humanos , Feminino , Adulto , Fator de von Willebrand/genética , Proteínas de Transporte Vesicular/genética , Heterozigoto , Linhagem , Doenças de von Willebrand/genética , Doenças de von Willebrand/diagnóstico , Complexo Glicoproteico GPIb-IX de Plaquetas/genéticaRESUMO
To explore the clinical curative effect of enteroscopic stent implantation combined with laparoscopy in patients with colorectal cancer and intestinal obstruction. A retrospective analysis was performed on the data of patients with colorectal cancer and intestinal obstruction in Gastrointestinal Surgery of Henan Provincial People's Hospital between November 2019 and October 2020. Among patients, there were 46 cases in traditional group (laparotomy+intraoperative intestinal irrigation), 42 cases in stent-laparotomy group (enteroscopic stent implantation+laparotomy), and 41 cases in stent-laparoscopy group (enteroscopic stent implantation+laparoscopy). The perioperative situation, levels of biochemical indexes, peripheral serum carcinoembryonic antigen (CEA) and carbohydrate antigen 199 (CA199), and prognosis were compared among the three groups. The results showed that among the three groups, operation time [(203.6±30.5) min] was longer, postoperative exhaust time [(1.2±0.3) d] and length of hospital stay [(10.5±2.1) d] were shorter, and intraoperative blood loss [(102.5±22.3) ml] was less in stent-laparoscopy group (all P values<0.05). The incidence of postoperative complications in stent-laparoscopy group was lower than that in traditional group (4.8% vs 21.7%, P<0.05). At 1 day after surgery, EOS was decreased, while PLT and CRP were increased in all three groups. Compared with traditional group and stent-laparotomy group after surgery, EOS was increased, while PLT and CRP were decreased in stent-laparoscopy group [EOS: (4.2±0.2) % vs (3.6±0.3) % vs (3.9±0.2) %; PLT: (259.6±11.4)×109/L vs (294.4±11.5)×109/L vs (271.7±10.7)×109/L; CRP: (8.8±2.0) vs (16.4±2.2) vs (14.9±2.3) ng/L; P<0.05]. At 3 months after surgery, levels of serum CEA and CA199 were decreased in the three groups. There was no significant statistical difference in serum CEA or CA199 among the three groups. During 3 years of follow-up, there was no significant statistical difference in postoperative recurrence rate or incidence of postoperative metastasis among the three groups. The study indicated that enteroscopic stent implantation combined with laparoscopy was more advantageous in terms of reducing intraoperative blood loss, accelerating recovery of postoperative exhaust function, relieving surgical stress and reducing the incidence of postoperative complications, which could decrease levels of serum CEA and CA199.
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Neoplasias Colorretais , Obstrução Intestinal , Laparoscopia , Stents , Humanos , Obstrução Intestinal/cirurgia , Obstrução Intestinal/etiologia , Neoplasias Colorretais/cirurgia , Estudos Retrospectivos , Complicações Pós-Operatórias , Antígeno Carcinoembrionário/sangue , Resultado do Tratamento , Tempo de Internação , Masculino , Feminino , Duração da Cirurgia , Prognóstico , Pessoa de Meia-IdadeRESUMO
OBJECTIVE: To evaluate the predictive value of global longitudinal strain (GLS) measured by cardiac magnetic resonance (CMR) feature-tracking technique for left ventricular remodeling (LVR) after percutaneous coronary intervention (PCI) in patients with acute ST-segment elevation myocardial infarction (STEMI). METHODS: A total of 403 patients undergoing PCI for acute STEMI were prospectively recruited from multiple centers in China.CMR examinations were performed one week (7±2 days) and 6 months after myocardial infarction to obtain GLS, global radial strain (GRS), global circumferential strain (GCS), ejection fraction (LVEF) and infarct size (IS).The primary endpoint was LVR, defined as an increase of left ventricle end-diastolic volume by ≥20% or an increase of left ventricle end-systolic volume by ≥15% from the baseline determined by CMR at 6 months.Logistic regression analysis was performed to evaluate the predictive value of CMR parameters for LVR. RESULTS: LVR occurred in 101 of the patients at 6 months after myocardial infarction.Compared with those without LVR (n=302), the patients in LVR group exhibited significantly higher GLS and GCS (P < 0.001) and lower GRS and LVEF (P < 0.001).Logistic regression analysis indicated that both GLS (OR=1.387, 95%CI: 1.223-1.573;P < 0.001) and LVEF (OR=0.951, 95%CI: 0.914-0.990;P=0.015) were independent predictors of LVR.ROC curve analysis showed that at the optimal cutoff value of-10.6%, GLS had a sensitivity of 74.3% and a specificity of 71.9% for predicting LVR.The AUC of GLS was similar to that of LVEF for predicting LVR (P=0.146), but was significantly greater than those of other parameters such as GCS, GRS and IS (P < 0.05);the AUC of LVEF did not differ significantly from those of the other parameters (P>0.05). CONCLUSION: In patients receiving PCI for STEMI, GLS measured by CMR is a significant predictor of LVR occurrence with better performance than GRS, GCS, IS and LVEF.
Assuntos
Intervenção Coronária Percutânea , Infarto do Miocárdio com Supradesnível do Segmento ST , Remodelação Ventricular , Humanos , Infarto do Miocárdio com Supradesnível do Segmento ST/diagnóstico por imagem , Infarto do Miocárdio com Supradesnível do Segmento ST/fisiopatologia , Infarto do Miocárdio com Supradesnível do Segmento ST/cirurgia , Estudos Prospectivos , Masculino , Feminino , Imageamento por Ressonância Magnética/métodos , Pessoa de Meia-Idade , Valor Preditivo dos Testes , Infarto do Miocárdio/diagnóstico por imagem , Infarto do Miocárdio/fisiopatologia , Volume Sistólico , Função Ventricular Esquerda/fisiologia , Deformação Longitudinal GlobalRESUMO
We assessed the prognostic utility of the new perinephric fat adherence risk score - Mayo Adhesive Probability (MAP), in patients of East Asian ethnicity undergoing either laparoscopic partial nephrectomy (LPN) or laparoscopic radical nephrectomy (LRN). A retrospective analysis of clinical data was carried out on 169 patients who either underwent LPN or LRN surgery. These patients were categorized into two groups, group A (0-2 points) and group B (3-4 points) using the new MAP score. The overall clinical data between these two groups was compared and potential risk factors were investigated using logistic regression analyses. The new MAP score yielded an area under the curve of 0.761 (95 % CI: 0.691-0.831), indicating its effectiveness. Group B had a significantly higher incidence of adherent perirenal fat (APF) during surgery (p<0.001) and had a greater average age (p<0.001). There was an increased prevalence of hypertension (p=0.009), type 2 diabetes mellitus (p<0.001), and MAFLD (p<0.001) in group B. Additionally, there were significant differences in posterior perinephric fat thickness (p<0.05), lateral perinephric fat thickness (p<0.001), and perinephric stranding (p<0.001) between the two groups. The new MAP score holds significance in predicting APF in people of East Asian ethnicity undergoing LPN or LRN, and there is a strong correlation between elevated MAP scores and risk factors such as MAFLD and advanced age.
Assuntos
População do Leste Asiático , Nefrectomia , Hepatopatia Gordurosa não Alcoólica , Adulto , Idoso , Feminino , Humanos , Masculino , Pessoa de Meia-Idade , Laparoscopia , Nefrectomia/efeitos adversos , Hepatopatia Gordurosa não Alcoólica/diagnóstico , Hepatopatia Gordurosa não Alcoólica/etnologia , Prognóstico , Estudos Retrospectivos , Medição de Risco , Fatores de RiscoRESUMO
In this work, a concept for a neutron diffractometer for high-resolution macromolecular structures has been developed within the Jülich High Brilliance Neutron Source (HBS) project. The SELENE optics are adapted to the requirements of the instrument to achieve a tunable low background neutron beam at mm2 scale sample area. With the optimized guide geometry, a low background neutron beam can be achieved at the small sample area with tunable divergence and size. For the 1 × 1 mm2 sample, a flux of 1.10 × 107 n/s/cm2 for 0.38° divergence is calculated in the 2-4 Å wavelength range, which is about 84.6% of the flux at MaNDi of the high-power spallation source SNS at ORNL. Virtual neutron scattering experiments have been performed to demonstrate the instrument's capabilities for studies of mm scale samples with large unit cells. Results of Vitesse simulations indicate that unit cell sizes of up to 200 Å are possible to be resolved with the proposed instrument.
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In tropical regions, numerous tick-borne pathogens (TBPs) play a crucial role as causative agents of infectious diseases in humans and animals. Recently, the population of companion and pet dogs has significantly increased in Vietnam; however, information on the occurrence of TBPs is still limited. The objectives of this investigation were to determine the occurrence rate, risk factors, and phylogenetic characteristics of TBPs in dogs from northern Vietnam. Of 341 blood samples tested by PCR, the total infection of TBPs was 73.9% (252/341). Babesia vogeli (18SrRNA gene - 30.5%) was detected most frequently in studied dogs followed by Rickettsia spp. (OmpA gene - 27%), Anaplasma platys (groEL gene - 22%), Bartonella spp. (16SrRNA - 18.8%), Mycoplasma haemocanis (16SrRNA - 9.4%) and Hepatozoon canis (18SrRNA gene - 1.2%), respectively. All samples were negative for Ehrlichia canis and Anaplasma phagocytophylum. Co-infection was detected in 31.4% of the samples (107/341) of which, A. platys/Bartonella spp. (34/94,10%), Rickettsia spp./B. vogeli (19/94, 5.6%), and M. haemocanis/B. vogeli (19/94, 5.6%) were recorded as the three most frequent two species of co-infection types. Statistical analysis revealed a significant correlation between TBP infection and several host variables regarding age, breed, and living area in the current study. The recent findings reported herein, for the first time in Vietnam, are essential for local veterinarians when considering the appropriate approaches for diagnosing these diseases. Furthermore, this data can be used to establish control measures for future surveillance and prevention strategies against canine TBPs in Vietnam.
Assuntos
Anaplasma , Babesia , Doenças do Cão , Filogenia , Doenças Transmitidas por Carrapatos , Animais , Cães , Vietnã/epidemiologia , Doenças do Cão/parasitologia , Doenças do Cão/epidemiologia , Doenças do Cão/microbiologia , Fatores de Risco , Doenças Transmitidas por Carrapatos/epidemiologia , Doenças Transmitidas por Carrapatos/veterinária , Doenças Transmitidas por Carrapatos/microbiologia , Doenças Transmitidas por Carrapatos/parasitologia , Anaplasma/genética , Anaplasma/isolamento & purificação , Babesia/genética , Babesia/isolamento & purificação , Masculino , Feminino , Rickettsia/genética , Rickettsia/isolamento & purificação , Bartonella/genética , Bartonella/isolamento & purificação , Bartonella/classificação , Mycoplasma/genética , Mycoplasma/isolamento & purificação , Mycoplasma/classificação , Coinfecção/veterinária , Coinfecção/epidemiologia , Coinfecção/parasitologia , Coinfecção/microbiologiaRESUMO
Generating stable human embryonic stem cells (hESCs) with targeted genetic mutations allows for the interrogation of protein function in numerous cellular contexts while maintaining a relatively high degree of isogenicity. We describe a step-by-step protocol for generating knockout hESC lines with mutations in genes involved in synaptic transmission using CRISPR-Cas9. We describe steps for gRNA design, cloning, stem cell transfection, and clone isolation. We then detail procedures for gene knockout validation and differentiation of stem cells into functional induced neurons.
Assuntos
Sistemas CRISPR-Cas , Edição de Genes , Células-Tronco Embrionárias Humanas , Neurônios , Humanos , Sistemas CRISPR-Cas/genética , Células-Tronco Embrionárias Humanas/citologia , Células-Tronco Embrionárias Humanas/metabolismo , Neurônios/citologia , Neurônios/metabolismo , Edição de Genes/métodos , Diferenciação Celular/genética , Técnicas de Inativação de Genes/métodos , RNA Guia de Sistemas CRISPR-Cas/genética , Sinapses/metabolismo , Sinapses/genéticaRESUMO
Objective: To study the clinicopathological features of Sjogren's syndrome (SS) with liver injury and to improve the understanding of this disease. Methods: Forty-nine patients with SS complicated with liver injury were collected from Beijing Ditan Hospital, Capital Medical University from October 2008 to January 2022. All patients underwent ultrasound-guided liver biopsy, and all specimens were stained with HE. The histopathologic characteristics were observed and the pathologic indexes were graded. Immunohistochemical stains for CK7, CK19, CD38, MUM1 and CD10 were performed by EnVision method; and special histochemical stains for reticulin, Masson's trichrome, Rhodanine, Prussian blue, periodic acid Schiff (PAS) and D-PAS stains were conducted. Results: The age of patients ranged from 31 to 66 years, including 3 males and 46 females. SS combined with drug-induced liver injury was the most common (22 cases, 44.9%), followed by autoimmune liver disease (13 cases, 26.5%, including primary biliary cholangitis in eight cases, autoimmune hepatitis in 3 cases, and PBC-AIH overlap syndrome in 2 cases), non-alcoholic fatty liver disease (NAFLD, 9 cases, 18.4%) and other lesions (5 cases, 10.2%; including 3 cases of nonspecific liver inflammation, 1 case of liver amyloidosis, and 1 case of porto-sinusoidal vascular disease). Among them, 28 cases (57.1%) were associated with obvious interlobular bile duct injury, mainly in SS combined with PBC group and drug-induced liver injury group. Twenty-three cases (46.9%) were associated with hepatocyte steatosis of varying degrees. In SS with autoimmune liver disease group, ISHAK score, degree of fibrosis bile duct injury, bile duct remodeling, lymphocyte infiltration of portal area, and plasma cell infiltration, MUM1 and CD38 expression; serum ALP and GGT, IgM; elevated globulin; positive AMA, proportion of AMA-M2 positive and IgM positive were all significantly higher than those in other groups(all P<0.05). Serum ALT, direct bilirubin and SSA positive ratio in SS combined with drug liver group were significantly higher than those in other groups(all P<0.05). The serum total cholesterol level in SS combined with PBC group (P=0.006) and NALFD group (P=0.011) were significantly higher than those in other groups (P<0.05). Conclusions: The pathologic manifestations of SS patients with liver injury are varied. The inflammatory lesions of SS patients with autoimmune liver disease are the most serious, and the inflammatory lesions of SS patients with non-alcoholic fatty liver disease and non-specific inflammation are mild. Comprehensive analysis of liver histopathologic changes and laboratory findings is helpful for the diagnosis of SS complicated with different types of liver injury.
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Doença Hepática Induzida por Substâncias e Drogas , Hepatite Autoimune , Cirrose Hepática Biliar , Hepatopatia Gordurosa não Alcoólica , Síndrome de Sjogren , Masculino , Feminino , Humanos , Adulto , Pessoa de Meia-Idade , Idoso , Síndrome de Sjogren/complicações , Cirrose Hepática Biliar/complicações , Cirrose Hepática Biliar/diagnóstico , Hepatopatia Gordurosa não Alcoólica/complicações , Fígado , Hepatite Autoimune/complicações , Hepatite Autoimune/diagnóstico , Inflamação/complicações , Doença Hepática Induzida por Substâncias e Drogas/complicações , Imunoglobulina MRESUMO
PURPOSE: This study aimed to assess the shifting patterns of the mediastinum, including the target volume and the isocenter point during the postoperative radiotherapy (PORT) process of non-small cell lung cancer (NSCLC), and to observe the occurrence of radiation injury. Additionally, we investigated the significance of mid-term assessment during the implementation of the PORT process. MATERIAL AND METHODS: We established coordinate axes based on bone anatomy and measured the mediastinum's three-dimensional direction and the shift of the isocenter point's shift in the PORT process. Statistical analysis was performed using Wilcoxon, Kruskal-Wallis, and the Chi-square test. P<0.05 was considered statistically significant. RESULTS: In this study, the analysis of patients revealed that the shift of anterior and posterior mediastinum (X), left and right mediastinum (Y), upper and lower mediastinum (Z), anterior and posterior isocenter point (Xi), and the left and right isocenter points (Yi) in the PORT process were 0.04-0.53, 0.00-0.84, 0.00-1.27, 0.01-0.86, and 0.00-0.66cm, respectively. The shift distance of the mediastinum was Z>Y>X, and the shift distance of the isocenter point was Xi>Yi. According to the ROC curve, the cut-off values were 0.263, 0.352, 0.405, 0.238, and 0.258, respectively, which were more significant than the cut-off values in 25 cases (25%), 30 cases (30%), 30 cases (30%), 17 cases (17%), and 15 cases (15%). In addition, there was a significant difference in the shift of the mediastinum and the isocenter point (all P=0.00). Kruskal-Wallis test showed no statistically significant difference between mediastinal shift and resection site in X, Y, and Z directions (P=0.355, P=0.239, P=0.256), surgical method (P=0.241, P=0.110, P=0.064). There was no significant difference in the incidence of RE and RP in PORT patients (P>0.05). No III-IV RP occurred. However, the incidence of ≥ grade III RE in the modified plan cases after M-S was significantly lower than in the original PORT patients, 0% and 7%, respectively (P=0.000). CONCLUSION: In conclusion, this study provides evidence that mediastinal shift is a potential complication during the PORT process for patients with N2 stage or R1-2 resection following radical resection of NSCLC. This shift affects about 20-30% of patients, manifesting as actual radiation damage to normal tissue and reducing the local control rate. Therefore, mid-term repositioning of the PORT and revision of the target volume and radiation therapy plan can aid in maintaining QA and QC during the treatment of NSCLC patients and may result in improved patient outcomes.
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Carcinoma Pulmonar de Células não Pequenas , Neoplasias Pulmonares , Humanos , Carcinoma Pulmonar de Células não Pequenas/radioterapia , Carcinoma Pulmonar de Células não Pequenas/cirurgia , Carcinoma Pulmonar de Células não Pequenas/patologia , Neoplasias Pulmonares/radioterapia , Neoplasias Pulmonares/cirurgia , Neoplasias Pulmonares/patologia , Controle de Qualidade , Estadiamento de Neoplasias , Estudos RetrospectivosRESUMO
Objective: To analyze the diagnostic efficacy of urinary lipoarabinomannan (LAM) antigen detection method in tuberculosis patients, and to provide an experimental basis for the clinical application of urinary LAM kit in China. Methods: From March to May 2023, 228 patients with lung diseases [134 male, 94 female, age 20-82 (44.8±16.7) years] were prospectively collected in Beijing Chest Hospital, Capital Medical University, including 143 pulmonary tuberculosis patients and 85 non-tuberculosis patients. Urine and sputum samples from patients were collected for traditional etiological detection and urinary LAM antigen detection. The screening results of each positive detection combination were analyzed, and the difference analysis and regression analysis were performed. Results: The detection sensitivity and specificity of the urinary LAM kit were 46.2% (95%CI: 37.9%-54.7%) and 96.5% (95%CI: 89.3%-99.1%), respectively, with an overall coincidence rate of 64.9%. The detection rate of LAM antigen detection and GeneXpert MTB/RIF (Xpert) combined (60.8%, 87/143) was significantly higher than that of Xpert alone (49.7%, 71/143), and the difference was statistically significant (P<0.05). The results of risk factor analysis showed that the risk of negative urinary LAM antigen test results increased significantly as the bacterial load decreased. Conclusions: Urine LAM antigen detection method has a high specificity and can be combined with traditional methods to effectively improve the detection rate. Urinary LAM antigen detection method still has limitations, such as the influence of bacterial load and the inability to distinguish nontuberculosis mycobacteria samples, which needs further experimental verification.
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Infecções por HIV , Mycobacterium tuberculosis , Tuberculose Pulmonar , Tuberculose , Humanos , Masculino , Feminino , Adulto Jovem , Adulto , Pessoa de Meia-Idade , Idoso , Idoso de 80 Anos ou mais , Tuberculose Pulmonar/diagnóstico , Tuberculose/diagnóstico , Lipopolissacarídeos , Sensibilidade e Especificidade , Escarro/microbiologiaRESUMO
BACKGROUND: MiR-150-5p is one of the miRNAs in the expression profile of miRNAs, and in many previous studies, it has been shown that miR-150-5p may play an important role in peripheral blood dendritic cells (DCs) of allergic rhinitis (AR) patients. We sought to investigate the role and mechanism of miR-150-5p in regulating DC function by modulating EGR2 and influencing T cell derivation to promote AR development. METHODS: The expression of miR-150-5p and EGR2 in AR patients was examined by real-time quantitative polymerase chain reaction (qRT-PCR), the expression of IL-4 cytokines in the supernatant of AR patients was tested by enzyme-linked immunosorbent assay (ELISA), and the expression of eosinophils in the supernatant of AR patients was measured by HE staining. The expression of EGR2 was detected by immunohistochemistry and fluorescent m-immunohistochemistry. RESULTS: MiR-150-5p expression was up-regulated and EGR2 expression was down-regulated in peripheral blood DCs from AR patients. miR-150-5p upregulated DCs, which promoted T-cell differentiation. miR-150-5p further regulated EGR2, which suppressed DCs and caused alteration of T-cell differentiation, in turn triggering the occurrence of AR. CONCLUSION: MiR-150-5p and its target gene EGR2 are involved in the development of AR, and DCs foster T-cell differentiation in peripheral blood of AR patients.
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MicroRNAs , Rinite Alérgica , Humanos , Citocinas/metabolismo , MicroRNAs/genética , MicroRNAs/metabolismo , Eosinófilos/metabolismo , Diferenciação Celular , Proteína 2 de Resposta de Crescimento Precoce/genética , Proteína 2 de Resposta de Crescimento Precoce/metabolismoRESUMO
To explore the clinical and pathological characteristics as well as therapies and prognosis of gray zone lymphoma (GZL). The clinical data of 10 GZL patients admitted to the First Affiliated Hospital of Soochow University from December 2016 to December 2022 were retrospectively collected. The clinical and pathological characteristics, therapies and prognosis were analyzed. The cut-off time for follow-up visits was December 31, 2022, and the median time for follow-up visits [M(Q1, Q3)] was 40.0 (28.3, 59.8) months. Treatment efficacy was divided into complete remission (CR), partial remission (PR), stable disease (SD) and progressive disease (PD).ãThere were 6 males and 4 females, with a median age [M(Q1, Q3)] of 33.5 (27.3-39.5) years. Among them, 8 patients had mediastinal (thymus) involvement and 7 patients were accompanied with extranodal involvement. According to Ann Arbor staging, 1 case was in the limited stage and 9 cases were in the progressive stage. The immunophenotypes of 4 patients were strong expression of CD20, expression of CD30, and no expression of CD15. The immunophenotypes of 6 patients were unequal expression of CD20 and strong expression of CD30 and CD15. One patient received classical hodgkin lymphoma(cHL)-like immunochemotherapy and only achieved PR, and then received enhanced diffuse large b-cell lymphoma (DLBCL)-like immunochemotherapy to achieve CR. Five patients received enhanced DLBCL-like immunochemotherapy for induction therapy and achieved CR. All 4 patients who did not achieve CR achieved CR after receiving second-line or third-line salvage therapy. All patients were given autologous stem cell transplantation (ASCT) for consolidation therapy. One patient relapsed and died during the follow-up visit in the 33rd month, and the remaining patients currently maintained a state of sustained remission. It is found that GZL mostly occurs in young patients, mediastinal involvement is common, and diagnosis relies on pathological morphology and immunophenotype. GZL may be more sensitive to DLBCL-like intensive immune regimens. Sequential ASCT for consolidation can reduce the risk of relapse.
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Transplante de Células-Tronco Hematopoéticas , Linfoma Difuso de Grandes Células B , Masculino , Feminino , Humanos , Estudos Retrospectivos , Transplante Autólogo , Recidiva Local de Neoplasia , Prognóstico , Linfoma Difuso de Grandes Células B/tratamento farmacológico , Protocolos de Quimioterapia Combinada Antineoplásica/uso terapêuticoRESUMO
Objective: To investigate the prevalence of Helicobacter pylori infection among family members, and analyze associated risk factors. Methods: The current investigation was a cross-sectional study. The Qinghai region was stratified into urban areas, agricultural areas, and pastoral areas. The urban areas of Xining City, the agricultural areas of Haidong City, and the pastoral areas of Haibei Tibetan Autonomous Prefecture were selected. A total of 396 resident families (1 131 people) who underwent health checkups from 2021 to 2022 in the above areas were included in the survey study. Questionnaires were administered and H. pylori infection was detected using the 13C-urea breath test. Numerical data were expressed as cases and percentages, and the Chi-square test was used to compare differences in H. pylori infection rates in the populations and families in each group. Multifactorial logistic regression was used to analyze risk factors for H. pylori infection, and P<0.05 was considered statistically significant. Results: The prevalence of H. pylori infection in Qinghai province was 52.8% (597/1 131) and the prevalence of H. pylori infection in households was 80.6% (319/396). In H. pylori-positive households with at least 1 infected spouse, 40.4% (36/89) had only 1 infected spouse, and in 59.6% (53/89) both spouses were infected. In analysis of children infected by parents with H. pylori, 20.0% (9/45) of households had fathers and children infected, 48.9% (22/45) had mothers and children infected, and 31.1% (14/45) had both parents and children infected. In univariate analysis there was a statistically significant difference in the overall comparison of H. pylori infection rates among families with different numbers of people living together (χ2=11.12, P=0.004), and between-group comparisons suggested that H. pylori infection rates were higher in families with 4 or 5 people and more than 5 people living together than in families with 2 or 3 people living together. The H. pylori infection rate was higher in families that did not use serving chopsticks and spoons during family meals than in families that did use serving chopsticks and spoons (χ2=6.12, P=0.013). In multifactorial logistic regression analyses the number of people living together in a family and whether or not serving chopsticks and spoons were used at family meals were associated with H. pylori infection (P<0.05). Conclusion: The H. pylori infection rate in families in Qinghai Province is high, and there is a clear association with family aggregation. It is more common for both members of a couple to be infected, and H. pylori infection of a mother has a greater effect on the children's infection status than H. pylori infection of a father. The infection rate of H. pylori was lower in families that used serving chopsticks and spoons during dinner gatherings, and the fewer the number of people living together in the family, the lower the H. pylori infection rate.
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Infecções por Helicobacter , Helicobacter pylori , Criança , Feminino , Humanos , Prevalência , Estudos Transversais , Infecções por Helicobacter/epidemiologia , China/epidemiologia , MãesRESUMO
Histone methylation assumes a crucial role in the intricate process of enamel development. Our study has illuminated the substantial prevalence of H3K4me3 distribution, spanning from the cap stage to the late bell stage of dental germs. In order to delve into the role of H3K4me3 modification in amelogenesis and unravel the underlying mechanisms, we performed a conditional knockout of Ash2l, a core subunit essential for the establishment of H3K4me3 within the dental epithelium of mice. The absence of Ash2l resulted in reduced H3K4me3 modification, subsequently leading to abnormal morphology of dental germ at the late bell stage. Notably, knockout of Ash2l resulted in a loss of polarity in ameloblasts and odontoblasts. The proliferation and apoptosis of the inner enamel epithelium cells underwent dysregulation. Moreover, there was a notable reduction in the expression of matrix-related genes, Amelx and Dspp, accompanied with impaired enamel and dentin formation. Cut&Tag-seq (cleavage under targets and tagmentation sequencing) analysis substantiated a reduction of H3K4me3 modification on Shh, Trp63, Sp6, and others in the dental epithelium of Ash2l knockout mice. Validation through real-time polymerase chain reaction, immunohistochemistry, and immunofluorescence consistently affirmed the observed downregulation of Shh and Sp6 in the dental epithelium following Ash2l knockout. Intriguingly, the expression of Trp63 isomers, DNp63 and TAp63, was perturbed in Ash2l defect dental epithelium. Furthermore, the downstream target of TAp63, P21, exhibited aberrant expression within the cervical loop of mandibular first molars and incisors. Collectively, our findings suggest that ASH2L orchestrates the regulation of crucial amelogenesis-associated genes, such as Shh, Trp63, and others, by modulating H3K4me3 modification. Loss of ASH2L and H3K4me3 can lead to aberrant differentiation, proliferation, and apoptosis of the dental epithelium by affecting the expression of Shh, Trp63, and others genes, thereby contributing to the defects of amelogenesis.
Assuntos
Amelogênese , Proteínas do Esmalte Dentário , Animais , Camundongos , Ameloblastos/metabolismo , Amelogênese/genética , Esmalte Dentário/metabolismo , Proteínas do Esmalte Dentário/genética , Proteínas do Esmalte Dentário/metabolismo , Metilação , Camundongos KnockoutRESUMO
Objective: To investigate the clinicopathological characteristics of plurihormonal PIT1-lineage pituitary neuroendocrine tumors. Methods: Forty-eight plurihormonal PIT1-lineage tumors were collected between January 2018 and April 2022 from the pathological database of Sanbo Brain Hospital, Capital Medical University. The related clinical and imaging data were retrieved. H&E, immunohistochemical and special stains were performed. Results: Out of the 48 plurihormonal PIT1-lineage tumors included, 13 cases were mature PIT1-lineage tumors and 35 cases were immature PIT1-lineage tumors. There were some obvious clinicopathological differences between the two groups. Clinically, the mature plurihormonal PIT1-lineage tumor mostly had endocrine symptoms due to increased hormone production, while a small number of immature PIT1-lineage tumors had endocrine symptoms accompanied by low-level increased serum pituitary hormone; patients with the immature PIT1-lineage tumors were younger than the mature PIT1-lineage tumors; the immature PIT1-lineage tumors were larger in size and more likely invasive in imaging. Histopathologically, the mature PIT1-lineage tumors were composed of large eosinophilic cells with high proportion of growth hormone expression, while the immature PIT1-lineage tumors consisted of chromophobe cells with a relatively higher expression of prolactin; the mature PIT1-lineage tumors had consistently diffuse cytoplasmic positive staining for keratin, while the immature PIT1-lineage tumors had various expression for keratin; the immature PIT1-lineage tumors showed more mitotic figures and higher Ki-67 proliferation index; in addition, 25.0% (12/48) of PIT1-positive plurihormonal tumors showed abnormal positive staining for gonadotropin hormones. There was no significant difference in the progression-free survival between the two groups (P=0.648) by Kaplan-Meier analysis. Conclusions: Plurihormonal PIT1-lineage tumor belongs to a rare type of PIT1-lineage pituitary neuroendocrine tumors, most of which are of immature lineage. Clinically increased symptoms owing to pituitary hormone secretion, histopathologically increased number of eosinophilic tumor cells with high proportion of growth hormone expression, diffusely cytoplasmic keratin staining and low proliferative activity can help differentiate the mature plurihormonal PIT1-lineage tumors from the immature PIT1-lineage tumors. The immature PIT1-lineage tumors have more complicated clinicopathological characteristics.
Assuntos
Tumores Neuroendócrinos , Neoplasias Hipofisárias , Humanos , Neoplasias Hipofisárias/patologia , Hormônios Hipofisários , Hormônio do Crescimento/metabolismo , QueratinasRESUMO
OBJECTIVE: The aim of this study was to analyze the effect of Scarf and Chevron combined with Akin on a postoperative balance of patients with moderate to severe foot bunion. PATIENTS AND METHODS: One hundred (100 feet) patients with moderate to severe bunion cysts treated at our hospital from January 2019 to January 2022 were retrospectively selected as subjects and divided into 2 groups according to their surgical procedure. The control group received Scarf combined with Akin, and the study group received Chevron combined with Akin. Oxidative stress mediators [late oxidized protein product (AOPP), lipid peroxide (LPO)], inflammatory factors [interleukin-1ß (IL-1ß), procalcitonin (PCT)], Hallux valgus angle (HVA), intermetatarsal angle (IMA), distal metatarsal joint angle (DMAA) Angle, ankle-hind foot American Orthotic Foot and Ankle Association (AOFAS) score, pain visual analog scale (VAS) score and balance Berg Balance Scale (BBS) score were compared between the two groups before and after surgery. The effectiveness and safety of the operation were compared. RESULTS: The levels of AOPP and LPO in the study group decreased most significantly, t=1.081 and 10.850, p=0.001; the levels of IL-1ß and PCT in the study group increased most significantly, t=16.970 and 12.260, p=0.001; the indexes of HVA, IMA, and DMAA in the study group increased significantly, t=11.890, 11.550, and 12.670, p=0.001; the AOFAS and BBS scores in the study group increased significantly, while the VAS score in the study group decreased significantly, t=14.760, 13.580, 5.994, p=0.001; the total effective rate of treatment in the study group was the highest, χ²=6.960, p=0.00; the total incidence of complications in the study group was the lowest, χ²=1.834, p=0.175. CONCLUSIONS: Chevron combined with Akin is more effective than Scarf combined with Akin in treating moderate to severe foot bunion, the former is more minimally invasive and has a better effect in promoting postoperative balance recovery.
Assuntos
Produtos da Oxidação Avançada de Proteínas , Joanete , Humanos , Estudos Retrospectivos , Extremidade Inferior , Pacientes , Peróxidos Lipídicos , Pró-CalcitoninaRESUMO
Objective: To investigate the histopathological and immunohistochemical characteristics of benign apocrine cystic papillary hyperplasia of the breast with loss of myoepithelial cell layer. Methods: The clinical data, histopathological features and immunohistochemical profile of patients with benign apocrine cystic papillary hyperplasia of breast with loss of myoepithelial cell layer from January 2016 to December 2021 were examined, in which six patients were identified. Results: All six patients were female, aged 36-61 years (median 46 years), who presented with a breast mass; three cases were from the left breast and three cases were from the right breast. Microscopic examination of all cases showed breast hyperplasia with apocrine cysts, accompanied by different degrees of micropapillary and papillary hyperplasia of apocrine cells. One case was associated with lobular carcinoma in situ, and one case was associated with apocrine ductal carcinoma in situ with intraductal dissemination in adenosis. Immunohistochemical staining of CK5/6, p63, SMA, SMMHC, Calponin and CD10 showed complete absence of myoepithelial cell layer surrounding ducts in apocrine cystic papillary hyperplasia. Conclusions: The myoepithelial cells of apocrine cystic papillary hyperplasia of the breast may undergo abnormal changes and may even be completely lost. The diagnosis should be comprehensively considered along with cytomorphological and histological features to avoid overdiagnosis.
Assuntos
Neoplasias da Mama , Células Epiteliais , Glândulas Mamárias Humanas , Papiloma , Feminino , Humanos , Células Epiteliais/patologia , Hiperplasia/patologia , Papiloma/complicações , Papiloma/patologia , Adulto , Pessoa de Meia-Idade , Glândulas Mamárias Humanas/patologia , Neoplasias da Mama/patologia , Carcinoma Lobular/complicações , Carcinoma Ductal/complicaçõesRESUMO
Deep learning (DL) methods further promote the development of quantitative structure-activity/property relationship (QSAR/QSPR) models by dealing with complex relationships between data. An acetylcholinesterase inhibitory toxicity model of ionic liquids (ILs) was established using a convolution neural network (CNN) combined with support vector machine (SVM), random forest (RF) and multilayer perceptron (MLP). A CNN model was proposed for feature self-learning and extraction of ILs. By comparing with the model results through feature engineering (FE), the model regression results based on the CNN model for feature extraction have been substantially improved. The results showed that all six models (FE-SVM, FE-RF, FE-MLP, CNN-SVM, CNN-RF, and CNN-MLP) had good prediction accuracy, but the results based on the CNN model were better. The hyperparameters of six models were optimized by grid search and the 10-fold cross validation. Compared with the existing models in the literature, the model performance has been further improved. The model could be used as an intelligent tool to guide the design or screening of low-toxicity ILs.