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1.
Zhonghua Yi Xue Za Zhi ; 104(27): 2529-2534, 2024 Jul 16.
Artigo em Zh | MEDLINE | ID: mdl-38978377

RESUMO

Objective: To investigate the clinical features and prognostic factors of advanced myelodysplastic syndromes (MDS) in children. Methods: Clinical data of children diagnosed with advanced MDS in the Hematology & Blood Diseases Hospital, Chinese Academy of Medical Sciences, between September 2009 and April 2022 were retrospectively collected. Follow-up assessments were performed through telephone interviews and the review of medical records until May 1, 2023. The clinical features of children with advanced MDS were summarized by analyzing chromosomal karyotype tests, second-generation gene sequencing results. Multivariate Cox regression analysis was used to investigate the prognostic factors of advanced MDS in children. Results: A total of 69 children, comprising 49 males and 20 females, aged [M (Q1, Q3)] 8 (5, 10) years, were enrolled in the study. Sixty-seven cases underwent chromosomal karyotype testing, of which 42 cases (62.7%) had abnormal karyotypes, with monosomy 7 the most common in 17 cases (25.4%). Forty-three cases underwent next-generation sequencing, with mutations in the SETBP1, NRAS, PTPN11 and RUNX1 genes more common, identified in 12 cases (27.9%), 9 cases (20.9%), 8 cases(18.6%), and 8 cases(18.6%), respectively. The follow-up time [M (Q1, Q3)] was 26 (13, 56) months and the 5-year overall survival rate was 56%(95%CI: 44.4%-70.5%). The 5-year overall survival rate for children who underwent hematopoietic stem cell transplantation (HSCT) was higher than that of children who did not undergo HSCT (73.9% vs 29.1%, P<0.001). HSCT (HR=0.118, 95%CI: 0.037-0.372, P<0.001) was a protective factor for the overall survival rate of children with advanced MDS. Serum ferritin level>356.3 µg/L (HR=6.497, 95%CI: 2.068-20.415, P=0.001) and moderate to severe splenomegaly (HR=4.075, 95%CI: 1.174-14.141, P=0.027) were risk factors for the overall survival rate of children with advanced MDS. Conclusions: Monosomy 7 was the most common abnormal karyotype and SETBP1 was the gene that had the highest mutation frequency in children with advanced MDS. HSCT, increased ferritin and moderate to severe splenomegaly are prognostic factors influencing the overall survival rate of children with advanced MDS.


Assuntos
Cariotipagem , Mutação , Síndromes Mielodisplásicas , Humanos , Síndromes Mielodisplásicas/genética , Síndromes Mielodisplásicas/diagnóstico , Síndromes Mielodisplásicas/terapia , Masculino , Feminino , Criança , Prognóstico , Estudos Retrospectivos , Pré-Escolar , Cromossomos Humanos Par 7/genética , Subunidade alfa 2 de Fator de Ligação ao Core/genética , Sequenciamento de Nucleotídeos em Larga Escala , Cariótipo Anormal , Deleção Cromossômica , Proteína Tirosina Fosfatase não Receptora Tipo 11
2.
Zhonghua Bing Li Xue Za Zhi ; 53(6): 521-527, 2024 Jun 08.
Artigo em Zh | MEDLINE | ID: mdl-38825894

RESUMO

Pathological diagnosis is vital in medicine. Developing and implementing high-quality pathology guidelines and consensus can enhance disease diagnosis accuracy and reduce unnecessary misdiagnosis and missed diagnoses. This article will cover the current status of pathology guidelines and consensus, methods for high-quality development, and the distinctions between them. Additionally, it will provide thoughts and suggestions for promoting their development in China.


Assuntos
Consenso , Humanos , Guias de Prática Clínica como Assunto , China , Patologia/normas
3.
Phys Rev Lett ; 130(21): 216004, 2023 May 26.
Artigo em Inglês | MEDLINE | ID: mdl-37295091

RESUMO

There has been a long-standing debate about the mechanism of the unusual superconductivity in alkali-intercalated fullerides. In this Letter, using high-resolution angle-resolved photoemission spectroscopy, we systematically investigate the electronic structures of superconducting K_{3}C_{60} thin films. We observe a dispersive energy band crossing the Fermi level with the occupied bandwidth of about 130 meV. The measured band structure shows prominent quasiparticle kinks and a replica band involving the Jahn-Teller active phonon modes, which reflects strong electron-phonon coupling in the system. The electron-phonon coupling constant is estimated to be about 1.2, which dominates the quasiparticle mass renormalization. Moreover, we observe an isotropic nodeless superconducting gap beyond the mean-field estimation (2Δ/k_{B}T_{c}≈5). Both the large electron-phonon coupling constant and large reduced superconducting gap suggest a strong-coupling superconductivity in K_{3}C_{60}, while the electronic correlation effect is suggested by the observation of a waterfall-like band dispersion and the small bandwidth compared with the effective Coulomb interaction. Our results not only directly visualize the crucial band structure but also provide important insights into the mechanism of the unusual superconductivity of fulleride compounds.


Assuntos
Álcalis , Elétrons , Espectroscopia Fotoeletrônica
4.
Clin Radiol ; 78(5): 387-393, 2023 05.
Artigo em Inglês | MEDLINE | ID: mdl-36863882

RESUMO

AIM: To explore the value of B-flow (B-mode blood flow) imaging and its enhanced mode in perforator mapping. MATERIALS AND METHODS: Before surgery, B-flow imaging, enhanced B-flow imaging, colour Doppler flow imaging (CDFI), and contrast-enhanced ultrasound (CEUS) were used to detect the skin-perforating vessels and small vessels in the fat layer of the donor site. Taking the intra-operative results as the reference standard, the diagnostic consistency and efficiency of the four modes were compared. Statistical analysis was performed using the Friedman M-test, Cochran's Q-test, and the Z-test. RESULTS: Thirty flaps were excised, with 34 skin-perforating vessels and 25 non-skin-perforating vessels, as confirmed during surgery. In order of the number of skin-perforating vessels detected, the results showed that enhanced B-flow imaging detected more vessels than B-flow imaging and CDFI (all p<0.05), CEUS detected more vessels than B-flow imaging and CDFI (all p<0.05), B-flow imaging detected more vessels than CDFI (p<0.05). All four modes had remarkable and satisfactory diagnostic consistency and effectiveness, but B-flow imaging was the best (sensitivity 100%, specificity 92%, Youden index 0.92). In order of the number of small vessels in the fat layer detected, the results showed that enhanced B-flow imaging detected more vessels than CEUS, B-flow imaging, and CDFI (all p<0.05). CEUS detected more vessels than B-flow imaging and CDFI (all p<0.05). CONCLUSION: B-flow imaging is an alternative method for perforator mapping. Enhanced B-flow imaging can reveal the microcirculation of flaps.


Assuntos
Processamento de Imagem Assistida por Computador , Retalhos Cirúrgicos , Ultrassonografia Doppler em Cores , Humanos , Ultrassonografia Doppler em Cores/métodos , Retalhos Cirúrgicos/irrigação sanguínea
5.
Beijing Da Xue Xue Bao Yi Xue Ban ; 55(1): 167-173, 2023 Feb 18.
Artigo em Zh | MEDLINE | ID: mdl-36718707

RESUMO

OBJECTIVE: To investigate the relationship between serum 25(OH)D and anti-Müllerian hormone (AMH) among infertile females and their predictive impacts on in vitro fertilization and embryo transfer pregnancy outcome. METHODS: Totally 756 infertile females treated with assisted reproductive technology were enrolled and divided into three groups according to their vitamin D levels (group A with serum 25(OH)D≤10 µg/L, group B with serum (10-20) µg/L, and group C with serum ≥20 µg/L). The serum AMH levels were detected. The differences among the groups were analyzed, as well as the correlation between vitamin D levels and serum AMH levels in various infertility types (fallopian tube/male factor, polycystic ovary syndrome (PCOS), ovulation disorders excluded PCOS, endometriosis, unexplained infertility, and others). Also, the predictive roles of vitamin D and AMH in pregnancy outcome in all the infertile females were discussed. RESULTS: (1) 87.7% of the enrolled females were insufficient or deficient in vitamin D. (2) The serum AMH levels in the three groups with different vitamin D levels were 1.960 (1.155, 3.655) µg/L, 2.455 (1.370, 4.403) µg/L, 2.360 (1.430, 4.780) µg/L and there was no significant difference in serum AMH levels among the three groups (P>0.05). (3) Serum 25(OH)D and AMH levels presented seasonal variations (P < 0.05). (4) There was no prominent correlation between the serum AMH level and serum 25(OH)D level in females of various infertility types after adjusting potential confounding factors [age, body mass index (BMI), antral follicle count (AFC), vitamin D blood collection season, etc.] by multiple linear regression analysis (P>0.05). (5) After adjusting for confounding factors, such as age, BMI, number of transplanted embryos and AFC, the results of binary Logistics regression model showed that in all the infertile females, the serum AMH level was an independent predictor of biochemical pregnancy outcome (P < 0.05) while the serum 25(OH)D level might not act as a prediction factor alone (P>0.05). In the meanwhile, the serum 25(OH)D level and serum AMH level were synergistic predictors of biochemical or clinical pregnancy outcome (P < 0.05). CONCLUSION: Based on the current diagnostic criteria, most infertile females had vitamin D insufficiency or deficiency, but there was not significant correlation between serum 25(OH)D and ovarian reserve. While vitamin D could not be used as an independent predictor of pregnancy outcome in infertile females, the serum AMH level could predict biochemical pregnancy outcome independently or jointly with vitamin D.


Assuntos
Infertilidade Feminina , Síndrome do Ovário Policístico , Feminino , Humanos , Gravidez , Hormônio Antimülleriano , Infertilidade Feminina/etiologia , Resultado da Gravidez , Vitamina D , Vitaminas
6.
Zhonghua Yu Fang Yi Xue Za Zhi ; 57(8): 1292-1297, 2023 Aug 06.
Artigo em Zh | MEDLINE | ID: mdl-37574326

RESUMO

The early diagnosis of lung cancer has become the focus of clinical attention, with the incidence and mortality of lung cancer increasing. Aberrant DNA methylation occurs in the primary stage of lung cancer, then the methylation degree can be changed dynamically due to the progress and the treatment of lung cancer. To date, a growing number of studies have reported that special gene methylation exploits in the clinical diagnosis, curative effect monitoring, and prognosis evaluation of lung cancer. Meanwhile, clinical trials about DNA methyltransferase inhibitors for lung cancer therapy are also underway. It is worth looking forward that detecting aberrant DNA methylation helps diagnose and treat lung cancer.


Assuntos
Metilação de DNA , Neoplasias Pulmonares , Humanos , Neoplasias Pulmonares/diagnóstico , Neoplasias Pulmonares/genética , Neoplasias Pulmonares/terapia , Pulmão
7.
Zhonghua Gan Zang Bing Za Zhi ; 31(2): 202-206, 2023 Feb 20.
Artigo em Zh | MEDLINE | ID: mdl-37137839

RESUMO

Mixed-type liver cancer is a rare kind of primary malignant liver tumor with risk factors similar to those of hepatocellular carcinoma and intrahepatic cholangiocarcinoma, although treatment methods and prognosis differ. An early imaging diagnosis is helpful in adopting appropriate treatment strategies for mixed-type liver cancer. Since mixed-type liver cancer contains different proportions of hepatocellular carcinoma and cholangiocarcinoma in the same lesion, imaging manifestations may vary. This paper reviews the recent literature reports, imaging characteristics, and the latest imaging diagnostic techniques in relation to the imaging diagnosis of mixed-type liver cancer.


Assuntos
Neoplasias dos Ductos Biliares , Carcinoma Hepatocelular , Colangiocarcinoma , Neoplasias Hepáticas , Humanos , Carcinoma Hepatocelular/diagnóstico por imagem , Carcinoma Hepatocelular/etiologia , Ductos Biliares Intra-Hepáticos/patologia , Neoplasias Hepáticas/diagnóstico por imagem , Neoplasias Hepáticas/etiologia , Diagnóstico por Imagem/efeitos adversos , Colangiocarcinoma/diagnóstico por imagem , Neoplasias dos Ductos Biliares/diagnóstico por imagem
8.
Zhonghua Jie He He Hu Xi Za Zhi ; 46(11): 1118-1120, 2023 Nov 12.
Artigo em Zh | MEDLINE | ID: mdl-37914423

RESUMO

A 69-year-old female patient was admitted to the Department of Respiratory and Critical Care Medicine, Affiliated Hospital of Xuzhou Medical University due to a "cough and fever for eight days". On admission, a coronavirus disease (COVID-19) nucleic acid test was positive, and a chest CT scan showed progressive patchy shadows and consolidation shadows in both lungs. Arterial blood gas analysis showed type Ⅰ respiratory failure. The primary diagnosis was severe community-acquired pneumonia in an older adult without underlying disease. However, oxygen inhalation, steroid, anti-inflammatory, and antibacterial empirical treatment with piperacillin/tazobactam was ineffective. Metagenomic next-generation sequencing of bronchoscopy alveolar lavage fluid showed Chlamydia psittaci(C. psittaci). Severe pneumonia was confirmed, caused by coinfection with severe acute respiratory syndrome coronavirus 2 and C. psittaci. A combination of doxycycline and moxifloxacin significantly improved the targeted and symptomatic treatment of the underlying cause. After discharge, the patient recovered within four weeks of follow-up. Therefore, clinicians should be alert to the possibility of coinfection of C. psittaci in patients already diagnosed with COVID-19.


Assuntos
COVID-19 , Chlamydophila psittaci , Coinfecção , Pneumonia , Feminino , Humanos , Idoso , Pulmão
9.
Zhonghua Jie He He Hu Xi Za Zhi ; 46(8): 760-773, 2023 Aug 12.
Artigo em Zh | MEDLINE | ID: mdl-37536986

RESUMO

Objective: To clarify the definition of severe pulmonary tuberculosis and its inclusion criteria by summarizing and analyzing the studies of severe pulmonary tuberculosis (TB). Methods: A systematic search of Medline (via PubMed), Cochrane Library, Web of Science, Web of Science, Epistemonikos, Embase, CNKI, WanFang database, and CBM database was conducted to collect studies published between 2017 and 2022 on patients with severe pulmonary TB. Searches were performed using a combination of subject terms and free words. The search terms included: tuberculosis, severe, serious, intensive care, critical care, respiratory failure, mechanical ventilation, hospitalization, respiratory distress syndrome, multiple organ failure, pulmonary heart disease, and pneumothorax. The definitions and inclusion criteria for severe pulmonary TB in the included studies were extracted. Results: A total of 19 981 studies were identified and 100 studies were finally included, involving 8 309 patients with severe pulmonary TB. A total of 8 (8.00%) studies explicitly mentioned the definition of severe pulmonary TB, and 53 (53.00%) studies clearly defined the inclusion criteria for patients with severe pulmonary TB. A total of 5 definitions and 30 inclusion criteria were extracted. A total of 132 dichotomous variables and 113 continuous variables were included in the outcome indicators related to patients with severe pulmonary TB of concern in the studies. Conclusions: The definition and diagnostic criteria for severe TB are unclear, and there is an urgent need to develop a clear definition and diagnostic criteria to guide clinical practice.


Assuntos
Síndrome do Desconforto Respiratório , Insuficiência Respiratória , Tuberculose Pulmonar , Humanos , Tuberculose Pulmonar/diagnóstico , Cuidados Críticos
10.
Artigo em Zh | MEDLINE | ID: mdl-37248191

RESUMO

Pneumoconiosis is characterized by chronic lung inflammation and fibrosis, and inflammation can promote pulmonary fibrosis, which in turn leads to pneumoconiosis. When a large shadow with a long diameter of not less than 2 cm and a short diameter of not less than 1 cm appears in the lung, it can be classified as stage Ⅲ pneumoconiosis. This paper reports a case of stage Ⅲ pneumoconiosis with a large shadow in the upper right lung accompanied by burr-like changes misdiagnosed as lung cancer by CT examination.When the large shadow lesions in patients with pneumoconiosis and lung cancer are difficult to distinguish on CT, an additional MRI examination, particularly T(2)W imaging sequence is useful sequence for identifying the two.


Assuntos
Neoplasias Pulmonares , Pneumoconiose , Fibrose Pulmonar , Humanos , Pneumoconiose/diagnóstico , Pneumoconiose/patologia , Pulmão/patologia , Neoplasias Pulmonares/diagnóstico , Neoplasias Pulmonares/patologia , Fibrose Pulmonar/patologia , Erros de Diagnóstico
11.
Osteoporos Int ; 33(3): 589-598, 2022 Mar.
Artigo em Inglês | MEDLINE | ID: mdl-34626209

RESUMO

INTRODUCTION: Osteoporosis is a metabolic bone disease with low bone mineral density (BMD) and high incidence of vertebral fractures (VFs). Postmenopausal women with osteoporosis have decreased total fat and lean mass. This study aimed to investigate the associations between body composition and VF risk and explore the potential predictor of VF risk in postmenopausal women. METHODS: Enrolled 731 postmenopausal women were referred by various departments and outpatient clinics to assess vertebral status between October 2016 and November 2017. The main measures were total body lean mass, fat mass, and BMD. Patients were divided into osteopenia, osteoporosis, and normal groups based on T-scores. Logistic regression analyses were performed to evaluate associations between body composition parameters and VF. RESULTS: VF was significantly associated with increased age, lower height, and lighter weight in all participants, and higher BMI was observed in VF participants. Participants in the osteoporosis group were older and had lower height, weight, and BMD than those in normal and osteopenia groups. Femoral and total hip T-scores as well as T-scores for lumbar spine were significantly lower in participants with VF than in non-VF participants. Percentage of bone mass was also significantly lower in VF participants compared to that of non-VF participants. Women with increased BMD and lower bone mass had reduced odds for VF occurrence. Bone mass was significantly able to identify VF occurrence. CONCLUSIONS: Body composition analysis discerns differences in the bone status of postmenopausal women with and without VF. The cutoff value of the bone mass might be used effectively as an indicator of risk for VF occurrence.


Assuntos
Osteoporose Pós-Menopausa , Fraturas da Coluna Vertebral , Composição Corporal , Densidade Óssea , Feminino , Humanos , Vértebras Lombares/diagnóstico por imagem , Vértebras Lombares/lesões , Osteoporose Pós-Menopausa/complicações , Osteoporose Pós-Menopausa/epidemiologia , Pós-Menopausa , Fatores de Risco , Fraturas da Coluna Vertebral/epidemiologia , Fraturas da Coluna Vertebral/etiologia
12.
Phys Rev Lett ; 129(15): 156401, 2022 Oct 07.
Artigo em Inglês | MEDLINE | ID: mdl-36269973

RESUMO

Chiral materials have attracted significant research interests as they exhibit intriguing physical properties, such as chiral optical response, spin-momentum locking, and chiral induced spin selectivity. Recently, layered transition metal dichalcogenide 1T-TaS_{2} has been found to host a chiral charge density wave (CDW) order. Nevertheless, the physical consequences of the chiral order, for example, in electronic structures and the optical properties, are yet to be explored. Here, we report the spectroscopic visualization of an emergent chiral electronic band structure in the CDW phase, characterized by windmill-shaped Fermi surfaces. We uncover a remarkable chirality-dependent circularly polarized Raman response due to the salient in-plane chiral symmetry of CDW, although the ordinary circular dichroism vanishes. Chiral Fermi surfaces and anomalous Raman responses coincide with the CDW transition, proving their lattice origin. Our Letter paves a path to manipulate the chiral electronic and optical properties in two-dimensional materials and explore applications in polarization optics and spintronics.

13.
Clin Exp Dermatol ; 47(1): 121-124, 2022 Jan.
Artigo em Inglês | MEDLINE | ID: mdl-34236722

RESUMO

Previous studies have demonstrated the heritability of alopecia areata (AA). However, whether the heritability of AA is sex-specific has not been examined. A nationwide population-based retrospective cohort study was performed using the Taiwan Maternal and Child Health Database from 2004 to 2017. We examined the heritability of AA in offspring of parents with and without AA, and determined whether the transmission of AA from parents to the next generation may occur in opposite directions depending on sex. We found that the risk ratio (RR) for heritability of AA between parents with and without AA was approximately two-fold. In addition, for fathers with AA, the risk of AA in offspring tended to be higher in girls than in boys (RR: 2.97; 95% confidence interval: 0.94, 9.31). Therefore, the present study confirms the heritability of AA, and further studies examining the sex-specific heritability of AA with a larger sample are warranted.


Assuntos
Alopecia em Áreas/genética , Adolescente , Criança , Estudos de Coortes , Feminino , Humanos , Masculino , Estudos Retrospectivos , Fatores Sexuais , Taiwan
14.
Zhonghua Zhong Liu Za Zhi ; 44(6): 540-549, 2022 Jun 23.
Artigo em Zh | MEDLINE | ID: mdl-35754228

RESUMO

Objective: To observe the platinum drugs resistance effect of N-acetyltransferase 10 (NAT10) overexpression in breast cancer cell line and elucidate the underlining mechanisms. Methods: The experiment was divided into wild-type (MCF-7 wild-type cells without any treatment) group, NAT10 overexpression group (H-NAT10 plasmid transfected into MCF-7 cells) and NAT10 knockdown group (SH-NAT10 plasmid transfected into MCF-7 cells). The invasion was detected by Transwell array, the interaction between NAT10 and PARP1 was detected by co-immunoprecipitation. The impact of NAT10 overexpression or knockdown on the acetylation level of PARP1 and its half-life was also determined. Immunostaining and IP array were used to detect the recruitment of DNA damage repair protein by acetylated PARP1. Flow cytometry was used to detect the cell apoptosis. Results: Transwell invasion assay showed that the number of cell invasion was 483.00±46.90 in the NAT10 overexpression group, 469.00±40.50 in the NAT10 knockdown group, and 445.00±35.50 in the MCF-7 wild-type cells, and the differences were not statistically significant (P>0.05). In the presence of 10 µmol/L oxaliplatin, the number of cell invasion was 502.00±45.60 in the NAT10 overexpression group and 105.00±20.50 in the NAT10 knockdown group, both statistically significant (P<0.05) compared with 219.00±31.50 in wild-type cells. In the presence of 10 µmol/L oxaliplatin, NAT10 overexpression enhanced the binding of PARP1 to NAT10 compared with wild-type cells, whereas the use of the NAT10 inhibitor Remodelin inhibited the mutual binding of the two. Overexpression of NAT10 induced PARP1 acetylation followed by increased PARP1 binding to XRCC1, and knockdown of NAT10 expression reduced PARP1 binding to XRCC1. Overexpression of NAT10 enhanced PARP1 binding to LIG3, while knockdown of NAT10 expression decreased PARP1 binding to LIG3. In 10 µmol/L oxaliplatin-treated cells, the γH2AX expression level was 0.38±0.02 in NAT10 overexpressing cells and 1.36±0.15 in NAT10 knockdown cells, both statistically significant (P<0.05) compared with 1.00±0.00 in wild-type cells. In 10 µmol/L oxaliplatin treated cells, the apoptosis rate was (6.54±0.68)% in the NAT10 overexpression group and (12.98±2.54)% in the NAT10 knockdown group, both of which were statistically significant (P<0.05) compared with (9.67±0.37)% in wild-type cells. Conclusion: NAT10 overexpression enhances the binding of NAT10 to PARP1 and promotes the acetylation of PARP1, which in turn prolongs the half-life of PARP1, thus enhancing PARP1 recruitment of DNA damage repair related proteins to the damage sites, promoting DNA damage repair and ultimately the survival of breast cancer cells.


Assuntos
Neoplasias da Mama , Acetiltransferases N-Terminal , Compostos Organoplatínicos , Neoplasias da Mama/tratamento farmacológico , Neoplasias da Mama/enzimologia , Linhagem Celular Tumoral , Resistencia a Medicamentos Antineoplásicos , Feminino , Humanos , Células MCF-7 , Acetiltransferases N-Terminal/metabolismo , Compostos Organoplatínicos/farmacologia , Oxaliplatina/farmacologia , Proteína 1 Complementadora Cruzada de Reparo de Raio-X
15.
Zhonghua Yu Fang Yi Xue Za Zhi ; 56(3): 302-311, 2022 Mar 06.
Artigo em Zh | MEDLINE | ID: mdl-35381651

RESUMO

Objective: To investigate the germline mutation status of related genes in breast cancer patients and high-risk individuals by next-generation sequencing. To analyze the correlations between homologous recombination repair (HR) pathway gene mutation status and clinicopathological characteristics of breast cancer patients. To supplement the database of breast cancer related gene mutations in Chinese population. Methods: This study is a cross-sectional study. From October 2020 to September 2021, whole blood samples were collected from 350 breast cancer patients and 49 high-risk individuals, admitted to Peking University People's Hospital and accepted genetic testing voluntarily. Germline mutations in 32 breast cancer related genes were detected by NGS. The clinicopathological characteristics, including age at the onset, family history, unilateral/bilateral tumor, Luminal typing (Luminal A subtype, Luminal B subtype, HER2-enriched subtype and triple negative breast cancer), tumor size and metastasis, were analyzed, and the correlations between HR pathway gene mutation status and clinicopathological characteristics were analyzed by Chi-squared test and Fisher's exact probability test. Results: Among 350 breast cancer patients, 64 (18.3%) cases carried gene pathogenic mutations (including pathogenic and likely pathogenic mutations), including 47 (13.4%) in BRCA1/2, 16 (4.6%) in non-BRCA1/2 genes, 1 (0.3%) in BRCA2 and FANCL. Among 49 high-risk individuals, 7 (14.3%) cases carried gene pathogenic mutations, including 6 (12.3%) in BRCA1/2 and 1 (2%) in ATM genes. BRCA1/2 pathogenic mutations were associated with age at the onset (18%, 8.7%, χ²=6.346, P=0.012), and the BRCA1/2 pathogenic mutation frequency was higher in patients diagnosed at age ≤45 years. HR pathway gene mutations (including pathogenic, likely pathogenic and uncertain significance mutations) were correlated with unilateral/bilateral tumor (49.5%, 68.4%, χ²=4.841, P=0.028) and Luminal typing (45.7%, 62.2%, 32%, 60%, χ²=12.004, P=0.007), and the HR mutation frequencies were higher in patients with bilateral tumor, Luminal B breast cancer and triple negative breast cancer (TNBC). Conclusion: The BRCA1/2 pathogenic mutation frequency in high-risk individuals is similar to that in breast cancer patients, and BRCA1/2 testing is helpful to guide breast cancer screening and prevention in high-risk individuals. Patients with early onset breast cancer, bilateral breast cancer, Luminal B breast cancer and TNBC have higher mutation frequencies of HR pathway genes, and HR pathway genes testing should be conducted as soon as possible to provide laboratory evidence for diagnosis, treatment, prognosis and risk evaluation of breast cancer.


Assuntos
Proteína BRCA1 , Proteína BRCA2 , Neoplasias da Mama , Reparo de DNA por Recombinação , Neoplasias de Mama Triplo Negativas , Proteína BRCA1/genética , Proteína BRCA2/genética , Neoplasias da Mama/genética , Neoplasias da Mama/patologia , Estudos Transversais , Feminino , Predisposição Genética para Doença , Mutação em Linhagem Germinativa , Sequenciamento de Nucleotídeos em Larga Escala , Humanos , Pessoa de Meia-Idade , Mutação , Neoplasias de Mama Triplo Negativas/genética , Neoplasias de Mama Triplo Negativas/patologia
16.
Zhonghua Jie He He Hu Xi Za Zhi ; 45(3): 304-308, 2022 Mar 12.
Artigo em Zh | MEDLINE | ID: mdl-35279994

RESUMO

Chronic thrombotic pulmonary hypertension (CTEPH) is a rare progressive pulmonary vascular disease, which is classified as World Health Organization (WHO) functional class Ⅳ pulmonary arterial hypertension (PAH). The diagnosis was based on mean pulmonary arterial pressure ≥25 mmHg(1 mmHg=0.133 kPa) and pulmonary arterial wedge pressure ≤15 mmHg measured by right heart catheterization, with the under-utilization of radionuclide ventilation/perfusion scan and regular anticoagulation therapy for at least three months. The incidence of CTEPH is low, at 4 cases per million population per year. Despite the in-depth research on CTEPH in recent years, the strengthening of clinical diagnostic awareness, and the emergence of treatment methods such as pulmonary endarterectomy (PEA) and balloon pulmonary angioplasty (BPA), the prognosis of CTEPH patients has been dramatically improved. However, the pathogenesis of CTEPH is unclear, and the lack of effective early diagnostic methods has become a bottleneck limiting the improvement of clinical diagnosis and treatment. In this paper, we reviewed the current research progress on the pathogenesis of CTEPH to increase the understanding of CTPTH disease.


Assuntos
Angioplastia com Balão , Hipertensão Pulmonar , Embolia Pulmonar , Angioplastia com Balão/métodos , Cateterismo Cardíaco/métodos , Endarterectomia/métodos , Humanos , Hipertensão Pulmonar/diagnóstico , Hipertensão Pulmonar/etiologia , Embolia Pulmonar/diagnóstico
17.
Osteoporos Int ; 32(5): 1007-1012, 2021 May.
Artigo em Inglês | MEDLINE | ID: mdl-33047193

RESUMO

Primary meningeal osteosarcoma is rare. The aim of this report is to investigate the symptoms, imaging data, pathological diagnosis, and treatment of primary meningeal osteosarcoma. A 54-year-old male patient was admitted to hospital because of numbness and weakness in the right limb, accompanied by dizziness and chest tightness. The CT and MRI examination of the patient showed multiple irregular mixed density mass signal shadows. After preliminary examinations and tests, meningioma was considered. After surgical resection, the mass was sent for pathological examination, and primary meningeal osteosarcoma was finally diagnosed. The patient did not receive radiotherapy and chemotherapy and died 7 months later. Primary meningeal osteosarcoma is a rare and easily misdiagnosed disease. There is no test that is specific enough up to now, so the correct diagnosis can only be determined by a histopathological examination. At present, there are no clear drug, radiotherapy, and chemotherapy guidelines for the treatment of this disease in addition to surgery, and the prognosis is poor.


Assuntos
Neoplasias Ósseas , Neoplasias Meníngeas , Osteossarcoma , Neoplasias Ósseas/diagnóstico por imagem , Neoplasias Ósseas/terapia , Fibroblastos , Humanos , Imageamento por Ressonância Magnética , Masculino , Neoplasias Meníngeas/diagnóstico por imagem , Neoplasias Meníngeas/terapia , Pessoa de Meia-Idade , Osteossarcoma/diagnóstico por imagem , Osteossarcoma/terapia
18.
Br J Dermatol ; 184(1): 14-24, 2021 01.
Artigo em Inglês | MEDLINE | ID: mdl-32628773

RESUMO

Psoriasis is a chronic inflammatory disease with a strong genetic component that can be triggered by environmental factors. Disease pathogenesis is mainly driven by type 1 and type 17 cytokine-producing cells which, in healthy individuals, are modulated by regulatory T cells (Tregs). Tregs play a fundamental role in immune homeostasis and contribute to the prevention of autoimmune disease by suppressing immune responses. In psoriasis, Tregs are impaired in their suppressive function leading to an altered T-helper 17/Treg balance. Although Treg dysfunction in patients with psoriasis is associated with disease exacerbation, it is unknown how they are functionally regulated. In this review, we discuss recent insights into Tregs in the setting of psoriasis with an emphasis on the effect of current treatments on Tregs and how already available therapeutics that modulate Treg frequency or functionality could be exploited for treatment of psoriasis.


Assuntos
Doenças Autoimunes , Psoríase , Citocinas , Progressão da Doença , Humanos , Psoríase/terapia , Linfócitos T Reguladores
19.
Lett Appl Microbiol ; 73(2): 187-196, 2021 Aug.
Artigo em Inglês | MEDLINE | ID: mdl-33894059

RESUMO

Faecal microbiota transplantation (FMT) has received considerable attention in recent years due to its remarkable efficacy in restoring a normal gut microbiome. Here, we established the groups of post-FMT recipient piglets using germ-free piglets during early life to characterize the colonization of gut microbiota composition and the enrichment of resistance gene acquisition. By metagenomic analysis, we identified 115 bacterial phyla and 2111 bacterial genera that were acquired by the FMT recipients. We found that early-life microbial colonization and the spread of resistomes in recipient piglets were age dependent. A total of 425, 425 and 358 AR genes primarily belonging to 114, 114 and 102 different types were detected in the donors, post-FMT recipients in the FMT-3D group and post-FMT recipients in the FMT-15D group respectively. Genes that encoded tetracycline, macrolide and chloramphenicol resistance proteins were the most dominant AR genes, and the results corresponded with the exposure of antibiotic consumption at farm. Bacteroides, Escherichia, Clostridium, Parabacteroides, Treponema, Lactobacillus and Enterococcus were significantly correlated with the distribution of AR genes. More importantly, the relative abundance of AR genes was positively correlated with the levels of mobile genetic elements. Our results indicate that early-life microbial colonization can persistently shape the gut microbiota and antibiotic resistome.


Assuntos
Bactérias/classificação , Bactérias/efeitos dos fármacos , Farmacorresistência Bacteriana Múltipla/genética , Transplante de Microbiota Fecal , Microbioma Gastrointestinal , Fatores de Virulência/genética , Fatores Etários , Animais , Antibacterianos/farmacologia , Biodiversidade , DNA Bacteriano , Fezes/microbiologia , Vida Livre de Germes , Sequências Repetitivas Dispersas , Metagenômica , Suínos
20.
Zhonghua Yi Xue Za Zhi ; 101(5): 311-316, 2021 Feb 02.
Artigo em Zh | MEDLINE | ID: mdl-34645249

RESUMO

Evidence-based interventional radiology is the result of the evolution and integration of evidence-based medicine and interventional radiology. It adopts the concepts and methods of evidence-based medicine to guide the best clinical practice in interventional radiology. We aim to systematically elaborate on the status quo of Clinical Research, Systematic Review/Meta-Analysis and Clinical Practice Guidelines in interventional radiology, analyze the existing problems, and put forward thoughts and suggestions on promoting the development of evidence-based interventional radiology in the future.


Assuntos
Medicina Baseada em Evidências , Radiologia Intervencionista , Previsões
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