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ATRX mutation modifies the DNA damage response in glioblastoma multiforme tumor cells and enhances patient prognosis.
IF 1.3 4区 医学
Medicine Pub Date : 2025-01-10 DOI: 10.1097/MD.0000000000041180
Rou Yu, Keru Huang, Xinyan He, Jingwen Zhang, Yushan Ma, Hui Liu
{"title":"ATRX mutation modifies the DNA damage response in glioblastoma multiforme tumor cells and enhances patient prognosis.","authors":"Rou Yu, Keru Huang, Xinyan He, Jingwen Zhang, Yushan Ma, Hui Liu","doi":"10.1097/MD.0000000000041180","DOIUrl":"10.1097/MD.0000000000041180","url":null,"abstract":"<p><p>The presence of specific genetic mutations in patients with glioblastoma multiforme (GBM) is associated with improved survival outcomes. Disruption of the DNA damage response (DDR) pathway in tumor cells enhances the effectiveness of radiotherapy drugs, while increased mutational burden following tumor cell damage also facilitates the efficacy of immunotherapy. The ATRX gene, located on chromosome X, plays a crucial role in DDR. The aim of this research is to elucidate the correlation between ATRX mutations and GBM. Dataset obtained from TCGA-GBM were conducted an analysis on the genomic features, biological characteristics, immunopathological markers, and clinical prognosis of patients carrying ATRX mutations. Our findings revealed a significantly elevated level of microsatellite instability in individuals with ATRX mutants, along with significant alterations in the receptor-tyrosine kinase (RTK)-ras pathway among patients exhibiting combined ATRX mutations. TCGA-GBM patients with concurrent ATRX mutations exhibited sensitivity to 26 chemotherapeutic and anticancer drugs, which exerted their effects by modulating the DDR of tumor cells through highly correlated mechanisms involving the RTK-ras pathway. Additionally, we observed an enrichment of ATRX mutations in specific pathways associated with DDR among TCGA-GBM patients. Our model also demonstrated prolonged overall survival in patients carrying ATRX mutations, particularly showing strong predictive value for 3- and 5-year survival rates. Furthermore, additional protective factors such as younger age, female gender, combined IDH mutations, and TP53 mutations were identified. The results underscore the protective role and prognostic significance of ATRX mutations in GBM as a potential therapeutic target and biomarker for patient survival.</p>","PeriodicalId":18549,"journal":{"name":"Medicine","volume":"104 2","pages":"e41180"},"PeriodicalIF":1.3,"publicationDate":"2025-01-10","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142962231","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
Distinct prognostic impacts of age-adjusted Charlson comorbidity index and geriatric nutritional risk index in patients with intraductal papillary mucinous neoplasm.
IF 1.3 4区 医学
Medicine Pub Date : 2025-01-10 DOI: 10.1097/MD.0000000000041215
Takuya Yuge, Yasuhiro Murata, Takahiro Ito, Aoi Hayasaki, Yusuke Iizawa, Takehiro Fujii, Akihiro Tanemura, Naohisa Kuriyama, Masashi Kishiwada, Shugo Mizuno
{"title":"Distinct prognostic impacts of age-adjusted Charlson comorbidity index and geriatric nutritional risk index in patients with intraductal papillary mucinous neoplasm.","authors":"Takuya Yuge, Yasuhiro Murata, Takahiro Ito, Aoi Hayasaki, Yusuke Iizawa, Takehiro Fujii, Akihiro Tanemura, Naohisa Kuriyama, Masashi Kishiwada, Shugo Mizuno","doi":"10.1097/MD.0000000000041215","DOIUrl":"10.1097/MD.0000000000041215","url":null,"abstract":"<p><p>The optimal surgical indication for intraductal papillary mucinous neoplasms (IPMN) remains highly contentious. We aimed to determine the preoperative predictive factors of malignancy and independent prognostic factors in patients with IPMN who underwent curative-intent resection. In this study, 104 patients with a pathological diagnosis of IPMN who underwent curative-intent resection were included. Multivariate regression and Cox proportional-hazards analyses were performed to identify the predictive factors for invasive intraductal papillary mucinous carcinoma (IPMC) and prognostic factors for overall survival (OS) after surgery. Among the 104 patients, 24 (23.1%) were pathologically diagnosed with invasive IPMC, and the remaining 80 had low-grade dysplasia or high-grade dysplasia. The presence of high-risk stigmata was an independent predictive risk factor for invasive IPMC. The age-adjusted Charlson comorbidity index (ACCI) (≥4/<4) and geriatric nutritional risk index (GNRI) (<99/≥99) were independent poor prognostic factors for OS (hazard ratio [HR]: 9.39; 95% confidence interval [CI]: 1.90-46.54; P = .006 and HR: 4.37; 95% CI: 1.07-17.86, P = .040, respectively). Forty patients with ACCI ≥ 4 (38.5%) had a significantly lower 5-year OS rate than those with ACCI < 4 (74.3 vs 98.2%, P < .001). Similarly, 29 patients with GNRI < 99 (27.9%) had a significantly lower 5-year OS rate than those with GNRI ≥ 99 (76.0 vs 95.1%, P < .001). These 2 factors were associated with significantly worse disease-specific survival after surgery. The ACCI and GNRI emerged as independent prognostic factors after surgery in patients with IPMN. These findings highlight the importance of patient-conditional factors as valuable indicators for predicting favorable long-term survival outcomes after surgery and for facilitating a more precise assessment of surgical eligibility in patients with IPMN.</p>","PeriodicalId":18549,"journal":{"name":"Medicine","volume":"104 2","pages":"e41215"},"PeriodicalIF":1.3,"publicationDate":"2025-01-10","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142962234","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
Hypothetical criteria and types for cochlear migraine.
IF 1.3 4区 医学
Medicine Pub Date : 2025-01-10 DOI: 10.1097/MD.0000000000041127
Jen-Tsung Lai, Tien-Chen Liu, Juen-Haur Hwang
{"title":"Hypothetical criteria and types for cochlear migraine.","authors":"Jen-Tsung Lai, Tien-Chen Liu, Juen-Haur Hwang","doi":"10.1097/MD.0000000000041127","DOIUrl":"10.1097/MD.0000000000041127","url":null,"abstract":"<p><p>Cochlear migraine (CM) and cochleovestibular migraine were first reported in 2018. However, the diagnostic criteria and types of CM were still undefined. We proposed a hypothetical criteria for CM as below: A. At least 2 episodes with cochlear symptoms with or without recovery. B. Current or previous history of migraine with or without aura according to the International Classification of Headache Disorders-3. C. One or more migraine features with at least 50% of the cochlear episodes. D. No current or previous history of vestibular symptoms. E. Not better accounted for by another cochlear or International Classification of Headache Disorders-3 diagnosis. Patients who were fitted with all 5 points could be diagnosed as CM. The clinical presentations of 62 adults with CM were included for descriptive and cluster analysis. There were 20 men and 42 women, with an age range of 27 to 72 years (mean, 50 years). 6 patients had migraine with aura, and the other 56 had migraine without aura. 4 types of CM could be categorized by cluster analysis. Type 1: unilateral fluctuating sensorineural hearing loss (SNHL) with or without tinnitus (35.5%). Type 2: repeated idiopathic sudden SNHL with or without tinnitus, with good recovery (22.6%). Type 3: idiopathic sudden SNHL with or without tinnitus, but deteriorated over time (21.0%). Type 4: unilateral fluctuating tinnitus with or without aural fullness, otalgia or mild SNHL (21.0%). We hope to raise more discussion about the criteria and clinical types of CM and/or cochleovestibular migraine.</p>","PeriodicalId":18549,"journal":{"name":"Medicine","volume":"104 2","pages":"e41127"},"PeriodicalIF":1.3,"publicationDate":"2025-01-10","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142962243","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
Impact of nursing interventions on hemodialysis patients using the integrated theory of health behavior change.
IF 1.3 4区 医学
Medicine Pub Date : 2025-01-10 DOI: 10.1097/MD.0000000000041050
Zhiyu Chen, Jinyan Ma, Hongchun Ou, Li Pu
{"title":"Impact of nursing interventions on hemodialysis patients using the integrated theory of health behavior change.","authors":"Zhiyu Chen, Jinyan Ma, Hongchun Ou, Li Pu","doi":"10.1097/MD.0000000000041050","DOIUrl":"10.1097/MD.0000000000041050","url":null,"abstract":"<p><p>This study investigated the impact of nursing interventions based on the Integrated Theory of Health Behavior Change on hemodialysis patients. A retrospective analysis of 713 hemodialysis patients' electronic medical records from June 2020 to November 2023 was conducted. Patients were divided into an experimental group, receiving nursing interventions based on the theory, and a control group, receiving regular nursing care. After 1 month, dialysis indices and hospitalization rates were compared. Subgroup analyses based on education level were performed. After basic information matching, the spKt/V values of the experimental group and the control group were 1.62 ± 0.27 and 1.41 ± 0.25, with 198 and 176 individuals meeting the standard, respectively. The urea reduction ratio of the experimental group was 78.26 ± 8.72, with 187 individuals meeting the standard. From the 2 indicators, the dialysis indices of the experimental group were significantly better than those of the control group (P < .05). The numbers of readmissions in the 2 groups were 41 and 61, respectively, with a statistically significant difference (P = .024). We also compared the reasons for readmission between the 2 groups and found significant differences in the reasons. Particularly, the numbers of readmissions due to fluid overload were 13 and 32 in the experimental and control groups, respectively, with significantly fewer in the experimental group than in the control group (P = .033). The education level did not affect the readmission rate of patients, with readmission rates of 12 and 11 in the 2 groups, respectively, with P > .05. The dialysis indices spKt/V and urea reduction ratio increased with increasing BMI, and there was a correlation between the 2, with values of 0.61 and 0.51, respectively, which were statistically significant (P < .05). The extremely satisfied rates were 46% in the experimental group and 36% in the control group, with dissatisfaction rates of 2% and 3% in the 2 groups, respectively, showing a significant statistical difference (P < .01). Nursing interventions based on the Integrated Theory of Health Behavior Change improved dialysis outcomes and patient satisfaction, providing insights for chronic disease management.</p>","PeriodicalId":18549,"journal":{"name":"Medicine","volume":"104 2","pages":"e41050"},"PeriodicalIF":1.3,"publicationDate":"2025-01-10","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142962247","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
Study on mechanism of Spatholobi Caulis in the treatment of the hand-foot skin reaction induced by targeted drug therapy based on network pharmacology and molecular docking: An observational study.
IF 1.3 4区 医学
Medicine Pub Date : 2025-01-10 DOI: 10.1097/MD.0000000000041085
Quan-Yao Li, Huan-Nan Meng, Li-Qiu Yao, Hui Liu, He-Xin Tan, Dan Lin, Jun Shi
{"title":"Study on mechanism of Spatholobi Caulis in the treatment of the hand-foot skin reaction induced by targeted drug therapy based on network pharmacology and molecular docking: An observational study.","authors":"Quan-Yao Li, Huan-Nan Meng, Li-Qiu Yao, Hui Liu, He-Xin Tan, Dan Lin, Jun Shi","doi":"10.1097/MD.0000000000041085","DOIUrl":"10.1097/MD.0000000000041085","url":null,"abstract":"<p><p>Based on network pharmacology and molecular docking methods, this study explored its active compounds and confirmed its potential mechanism of action against Hand-foot skin reaction induced by tumor-targeted drugs. Traditional Chinese Medicine Systems Pharmacology Database and Analysis Platform and UniProt Database were used to obtain the active ingredients and target proteins of Spatholobi Caulis. All hand-foot skin reaction (HFSR)-related targets were obtained with the help of the Human Gene Database, Online Mendelian Inheritance in Humans (OMIM), DisGeNET and DrugBank databases. Cytoscape 3.7.1 software was used to construct the active ingredient-target visualization network of Spatholobi Caulis, and the common target network of Spatholobi Caulis and HFSR. And through the BisoGenet plug-in in Cytoscape, PPI network topology analysis was performed. The Metescape database and online mapping tool platform were used for Gene Ontology (GO) function and Kyoto Encyclopedia of Genes Genomes (KEGG) pathway enrichment analysis to identify the key pathways of Spatholobi Caulis. Finally, Autodock Vina software and PyMol 2.5 software were used for molecular docking verification. There were 24 active components of Spatholobi Caulis and 244 target genes, 1635 disease-related target genes, 51 common target genes of Spatholobi Caulis and Hand-foot skin reaction, and key targets included NTRK1, epidermal growth factor receptor (EGFR), APP, TP53, HSP90AB1, HSP90AA, CUL3, etc. GO functional analysis involved a total of 66 molecular functions, 39 cellular components, and 817 biological processes. KEGG pathway analysis found 154 related signaling pathways, mainly enriched in Pathways in cancer, Human cytomegalovirus infection, Kaposi arcoma-associated herpesvirus infection, panic cancer, EGFR tyrosine kinase inhibitor resistance, P13K-Akt signaling pathway, Proteoglycans in cancer, HIF-1 signaling pathway and Ras signaling pathway, etc. Molecular docking results showed that luteolin, the active component of Spatholobi Caulis, had a high affinity with EGFR. Medicagol, the active components of Spatholobi Caulis, is proved in the Hand-foot skin reaction induced by lung cancer targeted therapy by regulating multiple signaling pathways through EGFR. It is confirmed that the treatment of Hand-foot skin reaction has the characteristics of multi-component, multi-target and multi-pathway regulation.</p>","PeriodicalId":18549,"journal":{"name":"Medicine","volume":"104 2","pages":"e41085"},"PeriodicalIF":1.3,"publicationDate":"2025-01-10","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142962265","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
Public perceptions and attitudes of drive-through pharmacy services: Insights from a cross-sectional survey in Saudi Arabia.
IF 1.3 4区 医学
Medicine Pub Date : 2025-01-10 DOI: 10.1097/MD.0000000000041118
Safiya Salem Bakarman, Wajid Syed, Mohammad K Alharbi, Adel Bashatah, Mahmood Basil A Al-Rawi
{"title":"Public perceptions and attitudes of drive-through pharmacy services: Insights from a cross-sectional survey in Saudi Arabia.","authors":"Safiya Salem Bakarman, Wajid Syed, Mohammad K Alharbi, Adel Bashatah, Mahmood Basil A Al-Rawi","doi":"10.1097/MD.0000000000041118","DOIUrl":"10.1097/MD.0000000000041118","url":null,"abstract":"<p><p>Disease-related fatalities in Saudi Arabia (SA) are on the rise, with 28% of all deaths attributed to cardiovascular diseases, followed by cancer, diabetes, and chronic respiratory disorders. In response to this issue, pharmacy dispensing practices have been significantly altered. One such innovative approach is the drive-through pharmacy service. This study aimed to assess the public perceptions and attitudes of drive-through pharmacy services living in Riyadh, SA. A cross-sectional, web-based study was conducted between October 2023 and December 2023 among adults living in Riyadh, SA to assess their perceptions and attitudes toward drive-through dispensing practice. A 19-item questionnaire, divided into 4 sections, was used to achieve the objectives. The first section focused on demographics and personal information. The second section included 3 questions about awareness, the population most benefited, and support. The final section assessed attitudes (5 items) of individuals toward drive-through pharmacy services. A response rate of 79.6% (n = 398) was achieved. A significantly high percentage of respondents, 86.2% (n = 343), reported being aware of drive-through pharmacy. Furthermore, 73.1% of them indicated that drive-through service benefits all populations, with 66.1% (n = 263) actually using the drive-through pharmacy service. In addition, 68.1% (n = 271) of individuals had positive perceptions. Positive perceptions were found to be higher among young adults aged 26 to 35 years compared with other age groups (P = .0001), among married individuals compared with unmarried individuals and others (P = .0001), as well as among housewives (P = .030). The results of the Student t test showed that males had a higher mean overall perception of drive-through pharmacy services (9.33) than females (9.26). Similarly, the analysis of variance analysis showed that individuals aged ≥46 years had a higher perception score (12.53) than other age groups. Furthermore, individuals with children had a lower perception (8.94) compared with those without children, indicating a statistically significant difference in mean perceptions of drive-through pharmacy based on gender (P = .002), age (P = .006), employment (P = .081), and presence of children (P = .001). Most respondents were aware of the drive-through pharmacy services and agreed that they would benefit the nation's entire population. The majority of individuals also supported the expansion of drive-through pharmacy services.</p>","PeriodicalId":18549,"journal":{"name":"Medicine","volume":"104 2","pages":"e41118"},"PeriodicalIF":1.3,"publicationDate":"2025-01-10","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142962316","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
Acute upper gastrointestinal bleeding: Analysis of 462 hospitalized Chinese patients in Shanghai.
IF 1.3 4区 医学
Medicine Pub Date : 2025-01-10 DOI: 10.1097/MD.0000000000040806
Jian-Ping Zhou, Min Wu, Mei-Tang Wang
{"title":"Acute upper gastrointestinal bleeding: Analysis of 462 hospitalized Chinese patients in Shanghai.","authors":"Jian-Ping Zhou, Min Wu, Mei-Tang Wang","doi":"10.1097/MD.0000000000040806","DOIUrl":"10.1097/MD.0000000000040806","url":null,"abstract":"<p><p>While acute upper gastrointestinal bleeding (AUGIB) remains clinically critical, the etiology of bleeding and risk factors for mortality remain uncertain. This study aimed to evaluate the underlying causes of AUGIB and identify risk factors associated with fatality. A retrospective survey was conducted in a major clinical hospital in Shanghai, where inpatients diagnosed with AUGIB were meticulously collected and analyzed. This retrospective, single-center study encompassed 462 patients diagnosed with AUGIB from the emergency department of Changhai Hospital between January 1, 2019 to November 30, 2021. The analysis involved various aspects including epidemiology, gastroscopy, imaging, laboratory tests and data, clinical features, and hospital mortality. Among the 462 patients studied, 87% (400 out of 462) were afflicted with noncirrhotic hemorrhage (up to 38% with peptic ulcer), and 4 patients required digital subtraction angiography embolization (two died). The mortality rate was 12% (49/400), of which 49% (24/49) of patients died of malignant tumors. Mortality did not differ according to sex (χ2 = 0. 851, P = .356) but was significantly influenced by age (χ2 = 18.292, P = .001), hemoglobin levels (χ2 = 22.908, P = .001), and comorbidity (χ2 = 17.355, P = .001). In patients with esophageal and gastric variceal bleeding, the mortality rate was as high as 25% (16/62). Their mortality did not vary with sex (χ2 = 0.318, P = .573), hemoglobin levels (χ2 = 4.139, P = .247), or age (χ2 = 7.674, P = .087), but was predominantly associated with hemorrhagic shock (88%, 14/16). Esophageal and gastric variceal bleeding and noncirrhotic hemorrhage patients observed significantly different mortality rates (P = .004). Peptic ulcers remained the primary cause of AUGIB. Old age, low hemoglobin levels, and comorbidities were the main risk factors contributing to mortality; nearly half of the patients died from malignant tumors. Hemorrhagic shock was independently associated with a high risk of in-hospital mortality in patients with cirrhotic hemorrhage.</p>","PeriodicalId":18549,"journal":{"name":"Medicine","volume":"104 2","pages":"e40806"},"PeriodicalIF":1.3,"publicationDate":"2025-01-10","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142962000","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
Maternal X chromosome pericentric inversion resulting in the genetic analysis of offspring pedigrees with deletions at Xp22.33 and Xp22.33p11.3, and duplications at Xq27.3q28: Case report.
IF 1.3 4区 医学
Medicine Pub Date : 2025-01-10 DOI: 10.1097/MD.0000000000041255
Guo-Sheng Deng, Yu-Qing Lai, Bo-Wen Luo, Yu-Di Luo, Ling-Ling Zhu, Zeng-Yu Yang, Keng Feng, De-Rong Li, Xiang Li
{"title":"Maternal X chromosome pericentric inversion resulting in the genetic analysis of offspring pedigrees with deletions at Xp22.33 and Xp22.33p11.3, and duplications at Xq27.3q28: Case report.","authors":"Guo-Sheng Deng, Yu-Qing Lai, Bo-Wen Luo, Yu-Di Luo, Ling-Ling Zhu, Zeng-Yu Yang, Keng Feng, De-Rong Li, Xiang Li","doi":"10.1097/MD.0000000000041255","DOIUrl":"10.1097/MD.0000000000041255","url":null,"abstract":"<p><strong>Rationale: </strong>This study investigates the genetic cause of primary infertility and short stature in a woman, focusing on maternal X chromosome pericentric inversion and its impact on offspring genetic outcomes, including deletions at Xp22.33 and Xp22.33p11.3, and duplications spanning Xq27.3 to the distal end of the X chromosome's long arm.</p><p><strong>Patient concerns: </strong>The proband presented with primary infertility, menstrual irregularities, and ultrasound findings indicating a small uterus.</p><p><strong>Diagnoses: </strong>Peripheral blood G-banded karyotype analysis and single nucleotide polymorphism array analysis revealed a 46,X,rec(X)dup(Xq)inv(X)(p11.3q27)dmat karyotype in the proband, inherited from her mother. Genetic testing identified pathogenic deletions at Xp22.33 and Xp22.33p11.3, and a pathogenic duplication at Xq27.3q28.</p><p><strong>Interventions: </strong>Genetic counseling and pedigree analysis were conducted to trace the maternal origin of the pericentric inversion and assess recurrence risks.</p><p><strong>Outcomes: </strong>The study confirmed the maternal X chromosome pericentric inversion caused the observed genetic abnormalities, with a 50% recurrence risk for X-linked inheritance.</p><p><strong>Lessons: </strong>Maternal X chromosome pericentric inversion significantly affects offspring genetic outcomes. Assisted reproductive technologies, including in vitro fertilization with preimplantation genetic testing, are recommended to reduce recurrence risks in future pregnancies. Prenatal genetic testing is advised for natural conception to ensure fetal genetic health.</p>","PeriodicalId":18549,"journal":{"name":"Medicine","volume":"104 2","pages":"e41255"},"PeriodicalIF":1.3,"publicationDate":"2025-01-10","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142962202","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
Analysis of influencing factors for complications of anterior thoracolumbar tuberculosis surgery in adults.
IF 1.3 4区 医学
Medicine Pub Date : 2025-01-10 DOI: 10.1097/MD.0000000000041252
Wei Lin, Jinzhu Liu, Zirui Zhan
{"title":"Analysis of influencing factors for complications of anterior thoracolumbar tuberculosis surgery in adults.","authors":"Wei Lin, Jinzhu Liu, Zirui Zhan","doi":"10.1097/MD.0000000000041252","DOIUrl":"10.1097/MD.0000000000041252","url":null,"abstract":"<p><p>This study analyzes the risk factors related to the complications of anterior thoracolumbar tuberculosis in adults and to provide clinical reference. A total of 98 adult patients with thoracolumbar tuberculosis undergoing anterior surgery in our hospital from February 2020 to December 2023 were selected, and the clinical data and postoperative complications were collected. The clinical characteristics were analyzed, and the risk factors related to surgical complications were analyzed by univariate analysis and multi-factor logistic regression model. A total of 54 patients had 75 postoperative complications of different degrees. Univariate analysis showed that patient age, preoperative hemoglobin (Hb) level, bone graft fusion method, intraoperative blood loss, and postoperative neurological function [Asian neurological function classification] were correlated with the occurrence of postoperative complications (P < .05). Multivariate Logistic regression analysis showed that age over 60 years old, preoperative Hb < 100 g/L, blood loss ≥ 800 mL, bone graft fusion method were independent risk factors for anterior postoperative complications of thoracolumbar tuberculosis (P < .05). The independent risk factors for surgical complications of anterior thoracolumbar tuberculosis were age over 60 years old, preoperative Hb < 100 g/L, blood loss ≥ 800 mL, titanium cage by bone graft fusion. Controlling these variable factors before operation can reduce the incidence of postoperative complications.</p>","PeriodicalId":18549,"journal":{"name":"Medicine","volume":"104 2","pages":"e41252"},"PeriodicalIF":1.3,"publicationDate":"2025-01-10","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142962208","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
Blind nasoenteric tube placement risks: A case report of misplacement into the pleural cavity.
IF 1.3 4区 医学
Medicine Pub Date : 2025-01-10 DOI: 10.1097/MD.0000000000041101
You Yuan, Wei Zhong, Huiming Gao, Xia Zhang, Junxi Chen, Yuanqin Qing, Rujun Hu
{"title":"Blind nasoenteric tube placement risks: A case report of misplacement into the pleural cavity.","authors":"You Yuan, Wei Zhong, Huiming Gao, Xia Zhang, Junxi Chen, Yuanqin Qing, Rujun Hu","doi":"10.1097/MD.0000000000041101","DOIUrl":"10.1097/MD.0000000000041101","url":null,"abstract":"<p><strong>Rationale: </strong>Enteral nutrition is a critical component of care for critically ill patients. However, the blind insertion of a nasoenteric tube, despite being a simple procedure, carries inherent risks that necessitate a reevaluation of the technique.</p><p><strong>Patient concerns: </strong>A case of a 60-year-old female experienced the rare yet critical complication of a misplaced nasoenteric tube entering the thoracic cavity during a blind insertion procedure for enteral nutrition following a liver transplant.</p><p><strong>Diagnosis: </strong>Following liver transplantation, the patient was diagnosed with severe pneumonia, a right-sided hydropneumothorax, and severe malnutrition.</p><p><strong>Interventions: </strong>After the misplacement of the nasoenteric tube into the pleural cavity was detected from the chest X-ray, the tube was immediately removed, and the pneumothorax was actively managed. Subsequently, with the support of contrast radiography, the nasoenteric tube was successfully reinserted to provide the patient with nutritional support and promote rehabilitation.</p><p><strong>Outcomes: </strong>The patient responded well to the intervention and was discharged in stable condition following complete recovery.</p><p><strong>Lessons: </strong>The case prompts a reevaluation of blind placement techniques and calls for the adoption of more reliable technologies to prevent similar incidents and ensure patient safety, such as electromagnetic and visualized guided placement technique.</p>","PeriodicalId":18549,"journal":{"name":"Medicine","volume":"104 2","pages":"e41101"},"PeriodicalIF":1.3,"publicationDate":"2025-01-10","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142962233","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
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