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1.
Artigo em Chinês | MEDLINE | ID: mdl-38599642

RESUMO

Objective: To evaluate the efficacy of neoadjuvant chemoimmunotherapy (NACI) combined with transoral robotic surgery (TORS) in the treatment of locally advanced oropharyngeal squamous cell carcinoma (OPSCC). Methods: This was a retrospective study of 15 patients with locally advanced OPSCC who underwent TORS after neoadjuvant therapy (NAT) at the Department of Otolaryngology-Head and Neck Surgery of Sun Yat-sen Memorial Hospital of Sun Yat-sen University from April 2019 to February 2023. There were 12 males and 3 females, aged 31 to 74 years. Twelve cases were tonsil cancer, and 3 cases were tongue base cancer. There were 11 cases in stage Ⅲ and 4 cases in stage Ⅳ. Two patients received neoadjuvant chemotherapy and 13 patients received NACI, with 2 to 3 cycles, and all patients underwent TORS after multidisciplinary team consultation. The clinicopathological characteristics, surgical outcomes, and oncological results were summarized. Results: All surgeries were successfully completed with negative surgical margins, and no case was required conversion surgery. All patients were fed via nasogastric tubes postoperatively, with a median gastric tube stay of 7 days (range: 2-60 days). No tracheotomy was applied. There were no major complications such as postoperative bleeding. Pathological complete response (pCR) was found in 10 cases (76.9%) among the 13 patients with NACI. The follow-up time was 21 months (range: 10-47 months), and there was no death or distant metastasis. One patient with rT0N3M0 tonsil cancer had local recurrence 5 months after surgery. The 2-year overall survival and 2-year disease-free survival were respectively 100.0% and 93.3% in the 15 patients. Conclusion: NACI combined with TORS provides a safe, effective and minimally invasive treatment for patients with locally advanced oropharyngeal squamous cell carcinoma.


Assuntos
Carcinoma de Células Escamosas , Neoplasias de Cabeça e Pescoço , Neoplasias Orofaríngeas , Procedimentos Cirúrgicos Robóticos , Neoplasias Tonsilares , Masculino , Feminino , Humanos , Carcinoma de Células Escamosas de Cabeça e Pescoço/terapia , Terapia Neoadjuvante , Carcinoma de Células Escamosas/cirurgia , Estudos Retrospectivos , Procedimentos Cirúrgicos Robóticos/métodos , Neoplasias Orofaríngeas/cirurgia , Resultado do Tratamento
3.
Zhonghua Nei Ke Za Zhi ; 63(3): 272-278, 2024 Mar 01.
Artigo em Chinês | MEDLINE | ID: mdl-38448190

RESUMO

Objective: To investigate the efficacy and safety of acute stent implantation during endovascular treatment for patients with emergent large vessel occlusion due to intracranial atherosclerotic stenosis. Methods: A retrospective analysis was carried out on 46 patients with emergent large vessel occlusion due to intracranial atherosclerotic stenosis who received endovascular treatment at the Strategic Support Force Medical Center from January 2015 to August 2022. Twenty-seven patients underwent balloon angioplasty alone and 19 patients underwent acute stent implantation. The baseline characteristics, modified thrombolysis in cerebral infarction (mTICI) score of the responsible vessels, modified Rankin scale (mRS) score 90 days after operation, incidence of symptomatic intracranial hemorrhage and mortality of the two groups were evaluated. Results: The proportion of effective recanalization of the offending vessels (mTICI≥2b) in the acute stenting group was slightly higher than that in the balloon angioplasty group (16/19 vs. 81.5%), but the difference was not statistically significant (P>0.05). Besides, there was no significant difference in the median of mRS between the acute stenting group [3.0(0, 4.0)] and the balloon angioplasty group [4.0(1.0, 5.0)] 90 days after operation (P>0.05). In terms of safety, the incidence of symptomatic intracranial hemorrhage and mortality were comparable between the two groups (P>0.05). Conclusions: The effect of acute stent implantation during endovascular treatment for patients with emergent large vessel occlusion due to intracranial atherosclerotic stenosis is not inferior to that of balloon angioplasty, and it does not increase the risk of intracranial bleeding complications.


Assuntos
Arteriosclerose Intracraniana , Hemorragias Intracranianas , Humanos , Constrição Patológica , Estudos Retrospectivos , Hemorragias Intracranianas/etiologia , Infarto Cerebral , Arteriosclerose Intracraniana/complicações
4.
Zhonghua Xin Xue Guan Bing Za Zhi ; 52(2): 137-143, 2024 Feb 24.
Artigo em Chinês | MEDLINE | ID: mdl-38326064

RESUMO

Objective: To explore the long-term effects of intravascular ultrasound (IVUS) guidance on patients with acute coronary syndrome (ACS) undergoing drug-eluting stents (DES) implantation. Methods: Data used in this study derived from ULTIMATE trial, which was a prospective, multicenter, randomized study. A total of 1 448 all-comer patients were enrolled between 2014 August and 2017 May. Primary endpoint of this study was target vessel failure (TVF) at 3 years, including cardiac death, target-vessel-related myocardial infarction, and clinically-driven target vessel revascularization. Results: ACS was present in 1 136 (78.5%) patients, and 3-year clinical follow-up was available in 1 423 patients (98.3%). TVF in the ACS group was 9.6% (109/1 136), which was significantly higher than 4.5% (14/312) in the non-ACS group (log-rank P=0.005). There were 109 TVFs in the ACS patients, with 7.6% (43/569) TVFs in the IVUS group and 11.6% (66/567) TVFs in the angiography group (log-rank P=0.019). Moreover, patients with optimal IVUS guidance were associated with a lower risk of 3-year TVF compared to those with suboptimal IVUS results (5.4% (16/296) vs. 9.9% (27/273),log-rank P=0.041). Conclusions: This ULTIMATE-ACS subgroup analysis showed that ACS patients undergoing DES implantation were associated with a higher risk of 3-year TVF. More importantly, the risk of TVF could be significantly decreased through IVUS guidance in patients with ACS, especially in those who had an IVUS-defined optimal procedure.


Assuntos
Síndrome Coronariana Aguda , Doença da Artéria Coronariana , Stents Farmacológicos , Intervenção Coronária Percutânea , Humanos , Angiografia Coronária , Síndrome Coronariana Aguda/cirurgia , Estudos Prospectivos , Resultado do Tratamento , Intervenção Coronária Percutânea/métodos , Ultrassonografia de Intervenção/efeitos adversos , Ultrassonografia de Intervenção/métodos
5.
Zhonghua Er Ke Za Zhi ; 62(2): 165-169, 2024 Feb 02.
Artigo em Chinês | MEDLINE | ID: mdl-38264817

RESUMO

Objective: To investigate the clinical and genetic characteristics of children with 45, X/46, XY mosaicism. Methods: The retrospective study included 20 children diagnosed with 45, X/46, XY and 45, X/46, X,+mar mosaicism in the First Affiliated Hospital of Zhengzhou University from 2018 to 2022. The clinical features, gonadal pathology, treatment and follow-up were summarized. Genetic tests were performed by SRY gene test, azoospermia factor region (AZF) deletion test, copy number variation-sequencing (CNV-seq). Age at first diagnosis was compared between boys and girls using independent sample t-test. Results: The 20 patients included 3 boys and 17 girls, and the age at first diagnosis were (7.6±5.5) years, it is (2.1±1.9) years in boys, (8.7±5.4) years in girls, significantly younger for boys (t=-3.86, P=0.004). The chief complaint was external genitalia malformation for boys, and short stature (13 cases) and dysplastic external genital for girls (4 cases). Five girls presented with features of Turner syndrome. The gonadal phenotypes included mixed gonadal dysplasia (MGD, 6 cases), complete gonadal dysplasia (CGD, 10 cases), unilateral ovotestis (2 cases), possible ovaries (1 case) and undetermined gonad (1 case). One female with dysplastic genital was reassigned to male, and the gender of the remaining cases remained unchanged. Seven females were treated with recombinant human growth hormone. The height increased by (17±7) cm during the (2.9±1.2) years follow-up. No gonadal malignancy was observed. The karyotype was 45, X/46, XY in 16 cases, and 45, X/46, X,+mar in 4 cases. All of the 4 marker chromosomes were derived from Y chromosome confirmed by CNV-seq. SRY gene was detected in all 20 patients genome, and AZF deletion was found in 7 girls. Conclusions: 45, X/46, XY mosaicism presented with dysplastic external genital or female with remarkable short stature. Gonadal phenotypes included MGD, CGD and ovotestis. AZF microdeletions were found in the majority of female cases.


Assuntos
Disgenesia Gonadal Mista , Síndrome de Turner , Criança , Humanos , Masculino , Feminino , Pré-Escolar , Adolescente , Mosaicismo , Disgenesia Gonadal Mista/genética , Estudos Retrospectivos , Variações do Número de Cópias de DNA , Síndrome de Turner/genética , Cromossomo Y
6.
Zhonghua Er Ke Za Zhi ; 62(2): 153-158, 2024 Feb 02.
Artigo em Chinês | MEDLINE | ID: mdl-38264815

RESUMO

Objective: To investigate the DMD genetic variants of the Chinese population with Duchenne (DMD) and Becker muscular dystrophies (BMD). Methods: A cross-sectional study was conducted on 2 690 unrelated patients with DMD and BMD aged 0-18 who visited the Genetic and Prenatal Diagnosis Center of the First Affiliated Hospital of Zhengzhou University from January 2005 to February 2022. The clinical data, such as gender, age, clinical manifestations, and address, were collected. Multiplex ligation-dependent probe amplification, next generation sequencing panel, Sanger sequencing, and PCR amplification were used to detect the variants of the DMD gene in the patients, whose clinical information and gene detection results were descriptively analyzed. Results: The 2 690 patients included 2 648 males and 42 females, with an age of 6.0 (4.0, 9.0) years. The serum creatine kinase increased in all patients. Pathogenic DMD gene variants were detected in the 2 618 patients, including 1 875 cases (71.6%) large deletions, 231 cases (8.8%) duplications, and 512 cases (19.6%) small variants. Among the deletion variants, the deletion of 3 exons was the most common, accounting for 15.4% (288/1 875); and hotspot deletion involved exons 45 to 50, accounting for 6.3% (119/1 875). Exon 2 was the most common type duplication region, accounting for 13.0% (30/231). Small variants were distributed in all 79 exons of the DMD gene, with no hotspots. In addition, the 46 small variants were previously unreported. Conclusion: Exon deletion is the most common type of DMD gene variant, followed by small variants and exon duplication.


Assuntos
Distrofina , Distrofia Muscular de Duchenne , Feminino , Humanos , Masculino , Gravidez , Estudos Transversais , Distrofina/genética , Éxons , Deleção de Genes , Distrofia Muscular de Duchenne/diagnóstico , Distrofia Muscular de Duchenne/genética , Diagnóstico Pré-Natal/métodos
7.
Nan Fang Yi Ke Da Xue Xue Bao ; 44(1): 1-8, 2024 Jan 20.
Artigo em Chinês | MEDLINE | ID: mdl-38293970

RESUMO

OBJECTIVE: To explore the effects of long non-coding RNA (lncRNA) HEM2M overexpression on liver injury in mice with non-alcoholic fatty liver disease (NAFLD). METHODS: Wild-type C57BL/6 (WT) mice and myeloid cell-specific HEM2M knock-in (MYKI) mice were fed normal (ND) or high-fat diet (HFD) for 12 weeks. After intraperitoneal glucose tolerance and insulin tolerance tests, the mice were euthanized for detection of liver function indicators in the serum and liver tissue. HE staining and F4/80 immunohistochemical staining were used to examine liver pathologies, and the levels of IL-6, IL-1ß, and TNF-α in the liver tissues were determined with ELISA. The mRNA expressions of HEM2M and the markers of M1 macrophages (TNF-α, iNOS, and IL-6) and M2 macrophages (Arg-1, YM-1, and IL-10) were detected using qRT-PCR, and the protein expressions of P-AKT, T-AKT, NLRC4, caspase-1 and GSDMD were assayed using immunoblotting. Caspase-1 activity in the liver tissues was determined with colorimetric measurement and immunofluorescence assay. RESULTS: Compared with HFD-fed WT mice, MYKI mice with HFD feeding showed milder liver function damage (P < 0.01), alleviated hepatic steatosis, and reduced liver macrophage infiltration, glucose tolerance impairment and insulin resistance (P < 0.01). The levels of IL-6, IL-1ß, and TNF-α and mRNA expressions of M1 type macrophage markers were significantly decreased (P < 0.01) and those of M2 type markers increased (P < 0.01) in the liver tissues of HFD-fed MYKI mice, which also showed reduced NLRC4 inflammasome activity, caspase-1 activation, and GSDMD-N protein expression compared with their WT counterparts (P < 0.05). CONCLUSION: Overexpression of HEM2M reduces the production of hepatic inflammatory factors, improves insulin resistance and inhibits hepatic NLRC4 inflammasome activation, which leads to reduced hepatic pyroptosis and liver injury in NAFLD mice.


Assuntos
Resistência à Insulina , Hepatopatia Gordurosa não Alcoólica , RNA Longo não Codificante , Animais , Camundongos , Hepatopatia Gordurosa não Alcoólica/metabolismo , RNA Longo não Codificante/genética , RNA Longo não Codificante/metabolismo , Fator de Necrose Tumoral alfa/metabolismo , Interleucina-6/metabolismo , Inflamassomos/metabolismo , Proteínas Proto-Oncogênicas c-akt/metabolismo , Camundongos Endogâmicos C57BL , Fígado/metabolismo , RNA Mensageiro/metabolismo , Caspases/metabolismo , Glucose/metabolismo , Dieta Hiperlipídica/efeitos adversos
9.
Zhonghua Xue Ye Xue Za Zhi ; 44(8): 649-653, 2023 Aug 14.
Artigo em Chinês | MEDLINE | ID: mdl-37803838

RESUMO

Objective: To explore the efficacy and safety of Venetoclax combined with multidrug chemotherapy in patients with relapsed or refractory early T-cell precursor acute lymphoblastic leukemia (R/R ETP-ALL) . Methods: This study retrospectively analyzed 15 patients with R/R ETP-ALL who received Venetoclax combined with multidrug chemotherapy from December 2018 to February 2022. Among them, eight cases were combined with demethylated drugs, four cases were combined with demethylated drugs and HAAG chemotherapy regimen, two cases were combined with demethylated drugs and CAG regimen, and one case was combined with Cladribine. Specific usage and dosage of Venetoclax: 100 mg on day 1, 200 mg on day 2, 400 mg on day 3-28, orally; when combined with azole antifungal drugs, dosage was reduced to 100 mg/d. Results: Fifteen patients (10 males and 5 females) with R/R ETP-ALL were treated with Venetoclax and multidrug chemotherapy with a median age of 35 (12-42) years old. Of 4 refractory and 11 relapsed patients, the efficacy was evaluated on the 21th day following combined chemotherapy: the overall response rate, the complete response (CR) rate, and the CR with incomplete hematological recovery (CRi) rate were 67.7% (10/15), 60.0% (9/15), and 6.7% (1/15), respectively. For the overall study population, the 12-month overall survival (OS) rate was 60.0%, and the median OS was 17.7 months. The disease-free survival (DFS) rate of all CR patients at 12 months was 60.0%, and the median DFS did not reach. About 14 patients had Ⅲ-Ⅳ hematological toxicity, but these adverse reactions were all controllable. No adverse reaction in the nervous system and tumor lysis syndrome occurred in this study, and no adverse reaction of organs above grade Ⅲ occurred. Conclusion: Venetoclax combined with multidrug chemotherapy may be a safe and promising treatment option for patients with R/R ETP-ALL.


Assuntos
Leucemia Mieloide Aguda , Células Precursoras de Linfócitos T , Leucemia-Linfoma Linfoblástico de Células T Precursoras , Masculino , Feminino , Humanos , Adulto , Estudos Retrospectivos , Resultado do Tratamento , Compostos Bicíclicos Heterocíclicos com Pontes/uso terapêutico , Protocolos de Quimioterapia Combinada Antineoplásica , Leucemia-Linfoma Linfoblástico de Células T Precursoras/tratamento farmacológico , Leucemia Mieloide Aguda/tratamento farmacológico
10.
Zhonghua Yi Xue Za Zhi ; 103(26): 2006-2010, 2023 Jul 11.
Artigo em Chinês | MEDLINE | ID: mdl-37438083

RESUMO

In the present study, clinical manifestations of two Chinese Okihiro syndrome families were analyzed, and genetic detections were performed on the two probands by exome sequencing and verified by Sanger sequencing for family members to determine the biological pathogenesis. Prenatal diagnoses were provided for three high-risk fetuses. The affected members exhibited a wildly spectrum of phenotypes, including ultrasound abnormalities of skeletal system (radius deformity and abnormal posture), and cardiac system (persistent common arterial trunk and ventricular septal defect) in the prenatal period of family 1, the severe phenotypes (grossly shortened and deformed forearm, Duane's anomaly and hearing loss), and the mild ones (usually only thenar dysplasia, or short radius styloid process). Two SALL4 variants, c.844delC p.(Q282Kfs*8) and c.2210delG p.(G737Vfs*23), have been identified respectively in two probands, and c.2210delG of SALL4 gene was unreported previously. The two variants were verified in all affected individuals, not in normal family members. Genotyping results of three fetuses indicated that one fetus was normal, and the two fetuses with heterozygous variation were affected. The two variants of SALL4 gene, c.844delC p.(Q282Kfs*8) and c.2210delG p.(G737Vfs*23), were the molecular pathological cause of Okihiro syndrome in the present study and enriched the spectrum of SALL4 variants. Our study provides accurate prenatal genetic diagnosis for the two families to avoid the birth of affected children.


Assuntos
Surdez , Síndrome da Retração Ocular , Feminino , Humanos , Gravidez , População do Leste Asiático , Mutação da Fase de Leitura , Fatores de Transcrição/genética
11.
Zhonghua Gan Zang Bing Za Zhi ; 31(3): 288-292, 2023 Mar 20.
Artigo em Chinês | MEDLINE | ID: mdl-37137855

RESUMO

Objective: To investigate the effect and role of the hepatitis B virus (HBV) on the expression of inhibin (PHB) in the proliferation and survival of hepatocellular carcinoma (HCC) cells. Methods: The expression of PHB in 13 pairs of HBV-infected livers, normal livers and HepG2.2.15 and HepG2 cells was detected by real-time fluorescent quantitative PCR and Western blot. Liver tissues were collected from seven patients with chronic hepatitis B before and after antiviral (tenofovir) treatment, and the expression of PHB was detected by RT-PCR and Western blot. HepG2.2.15 cells were transfected with Pcmv6-AC-GFP-PHB, and control vectors were collected. DNA content was analyzed by flow cytometry. The proliferation level of each cell group was detected using the EdU cell proliferation assay. HepG2.2.15 cells transfected with Pcmv6-AC-GFP-PHB and the control vector were cultured in serum-free medium for 6 days. Apoptosis was measured at the indicated time points using fluorescence-activated cell sorting (FACS)-based Annexin-V/PI double staining. Results: Compared with normal liver tissue, the expression of PHB in HBV-infected liver tissue was down-regulated (P < 0.01). Compared with HepG2 cells, the expression of PHB in HepG2.2.15 cells was significantly decreased (P < 0.01). The expression level of PHB in liver tissue after antiviral treatment (tenofovir) was significantly higher than that before treatment (P < 0.01). Compared with the control vector, the proliferation rate of HepG2.2.15 cells transfected with Pcmv6-AC-GFP-PHB was significantly lower than that of the control vector, and the apoptosis rate of HepG2.2.15 cells transfected with the Pcmv6-AC-GFP-PHB vector was significantly higher than the control vector (P < 0.01). Conclusion: HBV down-regulates the expression of inhibin to promote the proliferation and survival of hepatocellular carcinoma cells.


Assuntos
Carcinoma Hepatocelular , Neoplasias Hepáticas , Humanos , Vírus da Hepatite B/metabolismo , Carcinoma Hepatocelular/patologia , Neoplasias Hepáticas/patologia , Inibinas/metabolismo , Células Hep G2 , Tenofovir , Proliferação de Células , Antivirais/metabolismo
12.
Zhonghua Wei Chang Wai Ke Za Zhi ; 26(4): 372-379, 2023 Apr 25.
Artigo em Chinês | MEDLINE | ID: mdl-37072315

RESUMO

Objective: To explore the utility of stool-based DNA test of methylated SDC2 (mSDC2) for colorectal cancer (CRC) screening in residents of Shipai Town, Dongguan City. Methods: This was a cross-sectional study. Using a cluster sampling method, residents of 18 villages in Shipai Town, Dongguan City were screened for CRC from May 2021 to February 2022. In this study, mSDC2 testing was employed as a preliminary screening method. Colonoscopy examination was recommended for individuals identified as high-risk based on the positive mSDC2 tests. The final screening results, including the rate of positive mSDC2 tests, the rate of colonoscopy compliance, the rate of lesions detection, and the cost-effectiveness of screening, were analyzed to explore the benefits of this screening strategy. Results: A total of 10 708 residents were enrolled and completed mSDC2 testing, giving a participation rate of 54.99% (10 708/19 474) and a pass rate of 97.87% (10 708/10 941). These individuals included 4 713 men (44.01%) and 5 995 women (55.99%) with a mean age of (54.52±9.64) years. The participants were allocated to four age groups (40-49, 50-59, 60-69, and 70-74 years), comprising 35.21%(3770/10 708), 36.25% (3882/10 708), 18.84% (2017/10 708), and 9.70% (1039/10 708) of all participants, respectively. mSDC2 testing was positive in 821/10 708 (7.67%) participants, 521 of whom underwent colonoscopy, resulting in a compliance rate of 63.46% (521/821). After eliminating of 8 individuals without pathology results, data from 513 individuals were finally analyzed. Colonoscopy detection rate differed significantly between age groups (χ2=23.155, P<0.001),ranging from a low of 60.74% in the 40-49 year age group to a high of 86.11% in the 70-74 year age group. Colonoscopies resulted in the diagnosis of 25 (4.87%) CRCs, 192 (37.43%) advanced adenomas, 67 (13.06%) early adenomas, 15 (2.92%) serrated polyps, and 86 (16.76%) non- adenomatous polyps. The 25 CRCs were Stage 0 in 14 (56.0%) individuals, stage I in 4 (16.0%), and Stage II in 7(28.0%). Thus, 18 of the detected CRCs were at an early stage. The early detection rate of CRCs and advanced adenomas was 96.77% (210/217). The rate of mSDC2 testing for all intestinal lesions was 75.05% (385/513). In particular, the financial benefit of this screening was 32.64 million yuan, and the benefit-cost ratio was 6.0. Conclusion: Screening for CRCs using stool-based mSDC2 testing combined with colonoscopy has a high lesion detection rate and a high cost-effectiveness ratio. This is a CRC screening strategy that deserves to be promoted in China.


Assuntos
Adenoma , Neoplasias Colorretais , Masculino , Humanos , Feminino , Adulto , Pessoa de Meia-Idade , Estudos Transversais , Detecção Precoce de Câncer/métodos , Neoplasias Colorretais/patologia , Colonoscopia/métodos , Programas de Rastreamento/métodos , Adenoma/diagnóstico , DNA , Sindecana-2/genética
13.
Zhonghua Er Ke Za Zhi ; 61(5): 459-463, 2023 May 02.
Artigo em Chinês | MEDLINE | ID: mdl-37096267

RESUMO

Objective: To investigate the clinical phenotype and genetic characteristics of disorders of sex development (DSD) caused by Y chromosome copy number variant (CNV). Methods: A retrospective analysis was performed on 3 patients diagnosed with DSD caused by Y chromosome CNV admitted to the First Affiliated Hospital of Zhengzhou University from January, 2018 to September, 2022. Clinical data were collected. Clinical study and genetic test were performed by karyotyping, whole exome sequencing (WES), low coverage whole genome copy number variant sequencing (CNV-seq), fluorescence in situ hybridization (FISH) and gonadal biopsy. Results: The 3 children, aged 12, 9, 9 years, the social gender were all female, presented with short stature, gonadal dysplasia and normal female external genital. No other phenotypic abnormality was found except for case 1 with scoliosis. The karyotype of all cases were identified as 46, XY. No pathogenic vraiants were found by WES. CNV-seq determined that case 1 was 47, XYY,+Y(2.12) and case 2 was 46, XY,+Y(1.6). FISH concluded that the long arm of Y chromosome was broken and recombined near Yq11.2, and then produced a pseudodicentric chromosome idic(Y). The karyotype was reinterpreted as mos 47, X, idic(Y)(q11.23)×2(10)/46, X, idic(Y)(q11.23)(50) in case 1. The karyotype was redefined as 45, XO(6)/46, X, idic(Y)(q11.22)(23)/46, X, del(Y)(q11.22)(1) in case 2. 46, XY, -Y(mos) was found by CNV-seq in case 3, and the karyotype of 45, XO/46, XY was speculated. Conclusions: The clinical manifestations of children with DSD caused by Y chromosome CNV are short stature and gonadal dysgenesis. If there is an increase of Y chromosome CNV detected by CNV-seq, FISH is recommended to classify the structural variation of Y chromosome.


Assuntos
Variações do Número de Cópias de DNA , Síndrome de Turner , Humanos , Feminino , Hibridização in Situ Fluorescente , Estudos Retrospectivos , Cromossomos Humanos Y
14.
Zhonghua Yi Xue Za Zhi ; 103(16): 1225-1229, 2023 Apr 25.
Artigo em Chinês | MEDLINE | ID: mdl-37087406

RESUMO

Objective: To study the diagnostic value of lipoprotein-associated phospholipase A2(LP-PL-A2) in occult pancreaticobiliary reflux(OPBR) combined with gallbladder cholesterol deposition. Methods: This was a case-control study. Forty-six patients with OPBR who underwent gallbladder surgery at Shanghai East Hospital from December 2020 to October 2021, with gallbladder cholesterol deposition as the case group and the remainder as the control group, were included for analysis of their clinical data. Results: There were 21 cases in the case group, with 10 males and 11 females, and aged (57±12) years; 25 cases in the control group, with 11 males and 14 females, and aged (56±10) years. Serum LP-PL-A2 [(551.62±128.69) U/L] was significantly higher in the case group than in the control group [(436.70±135.88) U/L] (t=-2.80,P<0.01).Univariate analysis showed that LP-PL-A2 was a risk factor for OPBR combined with gallbladder cholesterol deposition, OR(95%CI):1.007(1.002-1.012), P=0.011. The area under the receiver operating characteristic curve (ROC) curve was 0.742, P=0.005. Conclusion: LP-PL-A2 is of diagnostic value in OPBR combined with gallbladder cholesterol deposition.


Assuntos
1-Alquil-2-acetilglicerofosfocolina Esterase , Refluxo Biliar , Colesterol , Vesícula Biliar , Feminino , Humanos , Masculino , Biomarcadores , Estudos de Casos e Controles , China , Colesterol/metabolismo , Vesícula Biliar/patologia , Refluxo Biliar/metabolismo
15.
Zhonghua Yi Xue Za Zhi ; 103(16): 1230-1235, 2023 Apr 25.
Artigo em Chinês | MEDLINE | ID: mdl-37087407

RESUMO

Objective: To explore the association between gallbladder adenomyomatosis (GA) and occult pancreaticobiliary reflux (OPBR). Methods: A total of 81 patients with GA who underwent cholecystectomy in Shanghai East Hospital from December 2020 to January 2022 were enrolled, including 48 cases of fundal type, 28 cases of segmental type and 5 cases of diffuse type. Patient's intraoperative bile was coltected and tested for amylase. According to gallbladder bile amylase level, patients were divided into OPBR group (bile amylase>110 U/L) and the control group (bile amylase≤110 U/L). Results: Among 81 patients, 32 were male and 49 were female, and aged (49.1±13.2) years; there were 66 cases in control group, including 27 males and 39 females, and aged (50.0±12.9)years; there were 15 patients in the OPBR group, including 5 males and 10 females, and aged (45.1±14.2) years. In terms of the clinical features of the two groups, there was no significant difference (all P>0.05), except for a significant increase in biliary amylase in the OPBR group compared with the control group (P<0.001). However, the incidence of OPBR was significantly different in the three types of GA, with a lower incidence of OPBR in the fundal type (10.4%, 5/48) than in the segmental type (28.6%, 8/28) and diffuse type (2/5) (P=0.038). In addition, segmental GA was more likely to be combined with gallbladder stones (85.7%, 24/28) than fundal GA (58.3%, 28/48) and diffuse GA (3/5) (P=0.031). Univariate and multivariate logistic regression analyses showed OPBR [OR (95%CI)=3.410 (1.010 to 11.513), P=0.048] and combined gallbladder stones [OR (95%CI)=2.974 (1.011 to 8.745), P=0.048] indepenclently correlated with segmental and diffuse GA. Conclusions: The incidence of OPBR is higher in segmental and diffuse GA, and gallstones and OPBR are independently associated with the occurrence of segmental and diffuse GA. These results suggest that OPBR may be the initiating factor for the occurrence and carcinogenesis of segmental and diffuse GA.


Assuntos
Neoplasias da Vesícula Biliar , Cálculos Biliares , Humanos , Masculino , Feminino , Vesícula Biliar/química , Vesícula Biliar/cirurgia , Neoplasias da Vesícula Biliar/complicações , Neoplasias da Vesícula Biliar/cirurgia , China , Bile , Cálculos Biliares/complicações , Amilases/análise
16.
Artigo em Inglês | MEDLINE | ID: mdl-36749453

RESUMO

BACKGROUND: There is currently no particularly effective strategy for patients with persistent atrial fibrillation accompanying heart failure with preserved ejection fraction (HFpEF), especially with recurrent atrial fibrillation after ablation. In this study, we will evaluate a new treatment strategy for patients with persistent atrial fibrillation who had at least two attempts (≧2 times) of radio-frequency catheter ablation but experienced recurrence, and physiologic conduction was reconstructed after atrioventricular node ablation or drug therapy, to control the patient's ventricular rate to maintain a regular heart rhythm, which is called His-Purkinje conduction system pacing (HPCSP) with atrioventricular node ablation. METHODS AND RESULTS: This investigator-initiated, multicenter prospective randomized controlled trial aimed to recruit 296 randomized HFpEF patients with recurrent atrial fibrillation. All the enrolled patients were randomly assigned to the pacing group or the drug treatment group. The primary endpoint is differences in cardiovascular events and clinical composite endpoints (all-cause mortality) between patients in the HPCSP and drug-treated groups. Secondary endpoints included heart failure hospitalization, exercise capacity assessed by cardiopulmonary exercise tests, quality of life, echocardiogram parameters, 6-minute walk distance, NT-ProBNP, daily patient activity levels, and heart failure management report recorded by the CIED. It is planned to compete recruitment by the end of 2023 and report in 2025. CONCLUSIONS: The study aims to determine whether His-Purkinje conduction system pacing with atrioventricular node ablation can better improve patients' symptoms and quality of life, postpone the progression of heart failure, and reduce the rate of rehospitalization and mortality of patients with heart failure. CLINICAL TRIAL REGISTRATION NUMBER: ChiCTR1900027723, URL: http://www.chictr.org.cn/edit.aspx?pid=46128&htm=4.

17.
Clin Radiol ; 78(3): e204-e213, 2023 03.
Artigo em Inglês | MEDLINE | ID: mdl-36496260

RESUMO

AIM: To explore the effectiveness and feasibility of machine-learning models based on magnetic resonance imaging (MRI) radiomics features in differentiating intracranial solitary fibrous tumour (ISFT) from angiomatous meningioma (AM) and stratifying ISFT histologically. MATERIALS AND METHODS: This study retrospectively recruited 268 patients with a histological diagnosis of ISFT (n=120) or AM (n=148), and 116 of the ISFT patients were used for stratified analysis of histological grade. The radiomics features were extracted from axial T1-weighted imaging (WI), T2WI and contrast-enhanced T1WI sequences. All patients were assigned randomly to the training group and test group in a ratio of 7:3. The models were optimised by 10-fold cross-validation in the training group, and the independent test group was used for further testing of the models. The performances of machine-learning models based on radiomics, clinical, and fusion features in predicting and stratifying ISFT were evaluated. RESULTS: ISFT and AM differed significantly in terms of age, tumour shape, enhancement pattern, and margin. There was no significant difference in the clinical characteristics between World Health Organization (WHO) grade II and WHO grade III ISFT. When used to differentiate ISFT from AM, the area under the curve (AUC) values of the machine-learning models based on radiomics, clinical, and fusion features in the test group were 0.917, 0.923 and 0.950, respectively. When used for histological stratification of ISFT, the model based on the radiomics signature achieved an AUC value of 0.786 in the test group. CONCLUSIONS: Machine-learning models can contribute in the prediction and histological stratification of ISFT non-invasively, which can help clinical differential diagnosis and treatment decisions.


Assuntos
Neoplasias Meníngeas , Meningioma , Tumores Fibrosos Solitários , Humanos , Estudos Retrospectivos , Imageamento por Ressonância Magnética/métodos , Meningioma/diagnóstico por imagem , Meningioma/patologia , Aprendizado de Máquina , Tumores Fibrosos Solitários/diagnóstico por imagem , Neoplasias Meníngeas/patologia
18.
J Fr Ophtalmol ; 46(1): 25-32, 2023 Jan.
Artigo em Inglês | MEDLINE | ID: mdl-36470750

RESUMO

PURPOSE: To compare the consistency between fundus fluorescein angiography (FFA) and optical coherence tomography angiography (OCTA) for the diagnosis of diabetic retinopathy (DR). MATERIALS AND METHODS: Ninety-six diabetic patients (185 eyes) treated from January 2019 to December 2019 underwent OCTA and FFA. The image characteristics of fundus lesions were recorded. Sixty-nine patients (137 eyes) who were diagnosed with DR by both examinations and needed to receive panretinal photocoagulation (PRP) were selected. The retinal nerve fiber layer (RNFL) thickness, macular superficial vascular complex (SVC) and deep vascular complex (DVC) blood flow density, 300µm area surrounding foveal avascular zone (FAZ) (FD300) blood flow density and FAZ parameters were compared. RESULTS: The Kappa coefficient of FFA and OCTA for diagnosing DR was 0.537 (P=0.000). FFA and OCTA had substantial consistency for detecting retinal microaneurysms and macular edema (Kappa coefficient=0.643/0.616, P=0.000), perfect consistency for detecting retinal neovascularization and retinal non-perfusion area (Kappa coefficient=0.809/0.832, P=0.000), and moderate consistency for detecting structural changes in the macular ring (Kappa coefficient=0.423, P=0.000). The RNFL thickness in the peripapillary and the superior temporal, temporal inferior, inferior nasal and superior nasal regions rose 1 week after PRP but declined 1 year after treatment (P<0.05). The macular SVC, DVC and FD300 blood flow density declined 1 week after PRP but rose 1 year after treatment (P<0.05). CONCLUSIONS: OCTA shows consistency with FFA for diagnosing DR, which remedies the deficiency of FFA. The reduction in fundus lesions after PRP can be quantified by OCTA.


Assuntos
Diabetes Mellitus , Retinopatia Diabética , Humanos , Vasos Retinianos/patologia , Retinopatia Diabética/diagnóstico por imagem , Retinopatia Diabética/cirurgia , Tomografia de Coerência Óptica/métodos , Angiofluoresceinografia/métodos , Resultado do Tratamento , Diabetes Mellitus/patologia
20.
Zhonghua Yu Fang Yi Xue Za Zhi ; 56(12): 1834-1837, 2022 Dec 06.
Artigo em Chinês | MEDLINE | ID: mdl-36536574

RESUMO

Between August and September, 2021, this study included 605 SARS-CoV-2 natural infection cases and 589 SARS-CoV-2 breakthrough cases from Nanjing and Yangzhou, as well as 690 inactivated COVID-19 vaccine recipients from Changzhou, China. In SARS-CoV-2 natural infection cases, the age range was 19-91 years (median age: 66 year), and the medians(Q1,Q3) of IgG titers were 0.19 (0.06-1.31), 3.70 (0.76-69.48), 15.31 (2.59-82.16), 4.41 (0.99-31.74), 2.31 (0.75-13.83), 2.28 (0.68-9.94) and 2.80 (1.00-9.53) at one to seven weeks after SARS-CoV-2 infection, respectively. In SARS-CoV-2 breakthrough cases, the age range was 18-76 years (median age: 45 year), and the medians(Q1,Q3)of IgG titers were 1.93 (0.34-26.67), 38.87 (7.90-121.0), 75.09 (11.85-123.70), 21.97 (5.20-95.58), 13.97 (3.47-46.82), 9.56 (2.48-33.38) and 4.38 (1.87-11.00) at one to seven weeks after SARS-CoV-2 infection, respectively. In inactivated COVID-19 vaccine recipients, the age range was 18-87 years (median age: 47 years), and the medians(Q1,Q3)of IgG titers were 16.22 (15.84-33.42), 5.35 (2.96-13.23), 3.30 (2.18-6.18), 3.14 (1.16-5.70), 2.77 (1.50-4.52), 2.72 (1.76-4.36), 2.01 (1.27-3.51) and 1.94 (1.35-3.09) at one to eight months after SARS-CoV-2 infection, respectively. The results suggested that IgG antibodies increased gradually within two weeks after SARS-CoV-2 infection, then declined gradually at three to seven weeks in SARS-CoV-2 natural infection cases. In SARS-CoV-2 breakthrough cases, IgG antibodies increased rapidly within two weeks, then declined gradually at three to seven weeks after SARS-CoV-2 infection. Additionally, IgG antibodies decreased rapidly within three months, then decreased gradually and remained at a low level within three months after immunization.


Assuntos
Vacinas contra COVID-19 , COVID-19 , Humanos , Idoso , Pessoa de Meia-Idade , Adulto Jovem , Adulto , Idoso de 80 Anos ou mais , Adolescente , SARS-CoV-2 , Cinética , Anticorpos Antivirais , Imunoglobulina G
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