Frontiers in MedicinePub Date : 2025-01-27eCollection Date: 2025-01-01DOI: 10.3389/fmed.2025.1497538
Xianghong Lian, Yang Jing, Ting Luo, Yixin Guo, Yunzhu Lin
{"title":"Pharmacological interventions for the management of anesthesia and sedation in patients with Duchenne muscular dystrophy: a systematic review and meta-analysis.","authors":"Xianghong Lian, Yang Jing, Ting Luo, Yixin Guo, Yunzhu Lin","doi":"10.3389/fmed.2025.1497538","DOIUrl":"10.3389/fmed.2025.1497538","url":null,"abstract":"<p><strong>Background: </strong>Patients with duchenne muscular dystrophy (DMD) have an increased risk of complications when they undergo sedation or general anesthesia. However, due to improvements in cardiopulmonary therapies during anesthetic care, patients with DMD are experiencing an unprecedented duration of survival. We performed a systematic analysis to assess the benefits and risks of pharmacological interventions for the management of anesthesia and sedation in DMD patients.</p><p><strong>Methods: </strong>We included any type of study reporting any drug intervention to manage anesthesia and sedation in participants previously diagnosed with DMD. Our primary outcomes were the onset time, recovery time, and neurodevelopmental disabilities. Seven electronic databases and three clinical trial registry platforms were searched. Data from the eligible studies were combined to calculate pooled risk ratios or standardized mean differences, and some included studies are presented in a narrative synthesis.</p><p><strong>Results: </strong>Forty studies with 196 DMD participants were included in the analysis. Compared with those of the control group, the sensitivity of patients with DMD to neuromuscular blocking agents (NMBAs) may have resulted in a prolonged onset time [MD = -0.96, 95% CI (0.71, 2.60), <i>I</i> <sup>2</sup> = 33%, <i>P</i> < 0.0001] and recovery time [MD = 2.22, 95% CI (1.14, 3.30), <i>I</i> <sup>2</sup> = 76%, <i>P</i> < 0.0001] from anesthesia. The neuromuscular blocking effects showed a significant age dependence in DMD patients, and the safe use of 2 mg/kg sugammadex to antagonize deep neuromuscular blockade and rapid recovery has been reported. Furthermore, DMD patients are at risk of developing malignant hyperpyrexia with general/inhaled anesthesia, and dantrolene is often used for effective rescue. In addition, general anesthesia and central neuraxial blockade in patients with severe DMD are unsafe because respiratory depression and myocardial complications may occur after the administration of volatile anesthetics and depolarizing muscle relaxants (succinylcholine) during the induction of anesthesia.</p><p><strong>Conclusions: </strong>Patients with DMD are more sensitive to NMBAs with delayed onset times and prolonged recovery times. Precautions for DMD patients should include quantitative neuromuscular monitoring, electrocardiographic monitoring and rapid airway protection throughout anesthesia. Compared with general anesthesia, regional anesthesia may be a relatively safe option.</p>","PeriodicalId":12488,"journal":{"name":"Frontiers in Medicine","volume":"12 ","pages":"1497538"},"PeriodicalIF":3.1,"publicationDate":"2025-01-27","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11808030/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143390744","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
Frontiers in MedicinePub Date : 2025-01-27eCollection Date: 2025-01-01DOI: 10.3389/fmed.2025.1505005
Max McClure, Izabela Maurício de Rezende, Leonardo Soares Pereira, Maria Rita Teixeira Dutra, Jordana Rodrigues Barbosa Fradico, Rodrigo Macedo, Marcelle Cardoso Marçal, Lívia Soares Coelho Fonte Boa, Alexandre Maurício Castro Bragato, Flávio Augusto de Almeida Faria, Livia Pamplona, Rodrigo Fabiano do Carmo Said, Carlos Eduardo Calzavara-Silva, Dario Brock Ramalho, Cintia Lopes de Brito Magalhães, Pedro Augusto Alves, Thaysa Drummond Palmeira Gama, Gláucia Fernandes Cota, Thomas P Monath, Olindo Assis Martins-Filho, Marcelo Antônio Pascoal-Xavier, Andrea Teixeira-Carvalho, Betânia Paiva Drumond, A Desiree LaBeaud
{"title":"Risk factors associated with in-hospital mortality during yellow fever outbreak in Brazil.","authors":"Max McClure, Izabela Maurício de Rezende, Leonardo Soares Pereira, Maria Rita Teixeira Dutra, Jordana Rodrigues Barbosa Fradico, Rodrigo Macedo, Marcelle Cardoso Marçal, Lívia Soares Coelho Fonte Boa, Alexandre Maurício Castro Bragato, Flávio Augusto de Almeida Faria, Livia Pamplona, Rodrigo Fabiano do Carmo Said, Carlos Eduardo Calzavara-Silva, Dario Brock Ramalho, Cintia Lopes de Brito Magalhães, Pedro Augusto Alves, Thaysa Drummond Palmeira Gama, Gláucia Fernandes Cota, Thomas P Monath, Olindo Assis Martins-Filho, Marcelo Antônio Pascoal-Xavier, Andrea Teixeira-Carvalho, Betânia Paiva Drumond, A Desiree LaBeaud","doi":"10.3389/fmed.2025.1505005","DOIUrl":"10.3389/fmed.2025.1505005","url":null,"abstract":"<p><strong>Objective: </strong>To characterize the clinical manifestations of yellow fever disease and identify risk factors for mortality.</p><p><strong>Methods: </strong>A retrospective study was conducted in the referral center for infectious diseases (Hospital Eduardo de Menezes-HEM) in Belo Horizonte, Minas Gerais, Brazil. Analysis included data from 283 patients with confirmed YF infection older than 13 years old who presented to HEM between January 2017 and June 2018. In-hospital mortality (hypothesis formulated after data collection), demographic factors and clinical and laboratory assessments were used.</p><p><strong>Results: </strong>Study patients were mainly men (87.6%), with a median age of 46.0 (IQR 36.5, 57.0). 131 (46.3%) patients were admitted to the ICU, and 62 (22.0%) used invasive mechanical ventilation for a median of 2 days (IQR 1, 3). The median (IQR) total length of stay (LOS) in the ICU was 6 days (IQR 4, 8). The in-hospital mortality rate was 24.0%. Age was significantly higher in fatal (median 49.5, IQR 41.0, 61.0]) than in non-fatal cases [46 (36, 55)] (<i>p</i> < 0.01). Male sex was associated with an increased risk of death (RR 4.66, 95% CI 1.19, 18.2; <i>p</i> < 0.01). Most common symptoms and signs on admission to HEM were fever (31.9%), myalgia (27.8%), jaundice (24.3%), headache (23.9%), abdominal pain (16.1%), vomiting (12.2%), weakness (10.4%), and arthralgias (10.0%). Initial viral load above the cutoff of 4.45 log<sub>10</sub> copies/mL was significantly associated with death prior to discharge (OR 12.2; CI 2.83, 92.3). Five factors were significantly related to increased odds of death prior to discharge: log-transformed AST (OR 3.65; CI 2.02, 7.81; <i>p</i> < 0.001), log-transformed INR (OR 7.40; CI 1.31, 33.0; <i>p</i> = 0.010), log-transformed lactate (OR 4.57; CI 1.48, 17.1; <i>p</i> = 0.013), log-transformed WBC (OR 4.33; CI 1.19, 18.5; <i>p</i> = 0.034), and age (OR 1.06; CI 1.01, 1.12; <i>p</i> = 0.026).</p><p><strong>Conclusions and relevance: </strong>AST, INR, lactate, WBC, and age are statistically associated with death prior to discharge in YF patients. These clinical markers should be applied to improve patient screening and management during future YF epidemics.</p>","PeriodicalId":12488,"journal":{"name":"Frontiers in Medicine","volume":"12 ","pages":"1505005"},"PeriodicalIF":3.1,"publicationDate":"2025-01-27","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11807806/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143390746","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
Frontiers in MedicinePub Date : 2025-01-27eCollection Date: 2025-01-01DOI: 10.3389/fmed.2025.1510753
Ling-Na Zhu, Wen-Bin Shen, Xiao-Yan Zou, Jiang-Cheng Zuo, Ning Xiao
{"title":"Chronic osteomyelitis with pathological fracture induced by <i>Mycoplasma hominis</i> infection: a case report and review of the literature.","authors":"Ling-Na Zhu, Wen-Bin Shen, Xiao-Yan Zou, Jiang-Cheng Zuo, Ning Xiao","doi":"10.3389/fmed.2025.1510753","DOIUrl":"10.3389/fmed.2025.1510753","url":null,"abstract":"<p><p><i>Mycoplasma hominis</i>, commonly residing in the genitourinary tract, can cause rare extragenital infections, especially in immunocompromised individuals. This report details a case of chronic osteomyelitis with a pathological femur fracture in a 79-year-old woman. Despite a history of bone tuberculosis, the infection was identified as <i>Mycoplasma hominis</i> through culture and mass spectrometry, highlighting the diagnostic challenges due to the organism's lack of a cell wall. This case underscores the necessity for advanced diagnostic methods and awareness of <i>Mycoplasma hominis</i> in non-urogenital infections.</p>","PeriodicalId":12488,"journal":{"name":"Frontiers in Medicine","volume":"12 ","pages":"1510753"},"PeriodicalIF":3.1,"publicationDate":"2025-01-27","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11807816/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143390722","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
Frontiers in MedicinePub Date : 2025-01-27eCollection Date: 2024-01-01DOI: 10.3389/fmed.2024.1515230
Jie Bao, Yajie Teng, Yingxue Yang, Qinghua Wang
{"title":"Inverted U-shaped association between the systemic immune-inflammation index and colorectal polyps in Chinese patients: a cross-sectional study.","authors":"Jie Bao, Yajie Teng, Yingxue Yang, Qinghua Wang","doi":"10.3389/fmed.2024.1515230","DOIUrl":"10.3389/fmed.2024.1515230","url":null,"abstract":"<p><strong>Purpose: </strong>The systemic immune-inflammation index (SII) has been found to be associated with various inflammatory and neoplastic diseases. The aim of this study was to investigate the relationship between the SII and colorectal polyps (CPs) in Chinese patients.</p><p><strong>Methods: </strong>This was a cross-sectional study. We retrospectively collected data from 3,028 Chinese patients who underwent physical examinations, including colonoscopy, from 2018 to 2022. We conducted a comparative analysis of patient characteristics among those with adenomatous polyps, non-adenomatous polyps, and individuals without CPs using descriptive statistics. We calculated the SII for each group and assessed the relationship between SII values and the presence of CPs.</p><p><strong>Results: </strong>Our study included 3,028 individuals, of whom 1,432 (47.29%) had colorectal polyps. After adjusting for confounding variables, the natural logarithm of the SII (Ln-SII) was significantly associated with the prevalence of adenomatous polyps in both males and females, with an odds ratio (OR) of 0.76 [95% confidence interval (CI): 0.65-0.88, <i>p</i> = 0.0003]. An inverted U-shaped relationship was observed between Ln-SII and the prevalence of colorectal polyps, including both adenomatous and non-adenomatous polyps, with a cut-off point at 5.78 (5.39 for adenomatous polyps and 5.79 for non-adenomatous polyps). Below this cut-off point, a significant association with colorectal polyps was identified, with an OR of 1.73 (95% CI: 1.25-2.40, <i>p</i> = 0.0009). Specifically, for adenomatous polyps, the OR was 2.91 (95% CI: 1.03-8.20, <i>p</i> = 0.0437), and for non-adenomatous polyps, the OR was 1.86 (95% CI: 1.31-2.65, <i>p</i> = 0.0006). Beyond the cut-off point, the association between Ln-SII and colorectal polyps remained significant, with an OR of 0.56 (95% CI: 0.46-0.68, <i>p</i> < 0.0001). In the adenomatous polyps group, the OR was 0.57 (95% CI: 0.43-0.74, <i>p</i> < 0.0001), and in the non-adenomatous polyps group, the OR was 0.57 (95% CI: 0.46-0.70, <i>p</i> < 0.0001).</p><p><strong>Conclusion: </strong>The inverted U-shaped association between Ln-SII and the risk of colorectal polyps highlights the potential relevance of monitoring variations in SII and suggests that SII may be a promising predictor for colorectal polyp development.</p>","PeriodicalId":12488,"journal":{"name":"Frontiers in Medicine","volume":"11 ","pages":"1515230"},"PeriodicalIF":3.1,"publicationDate":"2025-01-27","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11808360/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143390759","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
{"title":"Efficacy of dietary modifications and mucosal protectors in the treatment of laryngopharyngeal reflux: a multicenter study.","authors":"Matteo Gelardi, Rossana Giancaspro, Christian Fiorentino, Stefano Patruno, Jacopo Marroni, Alessandro D'Avino, Letizia Neri, Michele Cassano, Giampiero Neri","doi":"10.3389/fmed.2025.1488323","DOIUrl":"10.3389/fmed.2025.1488323","url":null,"abstract":"<p><strong>Background: </strong>Laryngopharyngeal reflux (LPR) is defined as an extraesophageal reflux of gastroduodenal contents to the laryngopharynx, affecting the upper aerodigestive tract. There is currently no standardized treatment protocol for LPR. The use of proton pump inhibitors (PPIs) is widely established in common practice and derives from the standard approach of using PPIs to treat patients with gastroesophageal reflux disease (GERD). However, as PPIs may not be effective on all types of reflux, the aim of our study was to evaluate the effectiveness of dietary changes and mucosal protectants, alone or in combination, in LPR treatment.</p><p><strong>Methods: </strong>This multicenter randomized controlled trial included 48 patients divided into three groups: dietary modifications only, mucosal protectors only, and a combination of both. The patients' responses were assessed over 1 month using the Reflux Symptom Index (RSI) and Reflux Finding Score (RFS), along with measurements of salivary and nasal pepsin concentration and rhinomanometry.</p><p><strong>Results: </strong>Significant improvements were observed in RSI and RFS scores across all groups. The group receiving combined dietary modifications and mucosal protectors showed the most substantial benefits. Additionally, a notable reduction in salivary and nasal pepsin concentrations and nasal resistances was observed, particularly in patients combining dietary modifications and mucosal protectors.</p><p><strong>Conclusion: </strong>The study showed that combined dietary modifications and mucosal protects strategies effectively manage LPR symptoms, offering a potential therapeutic approach.</p>","PeriodicalId":12488,"journal":{"name":"Frontiers in Medicine","volume":"12 ","pages":"1488323"},"PeriodicalIF":3.1,"publicationDate":"2025-01-27","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11808125/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143390740","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
{"title":"Case report: Dupilumab-induced linear psoriasis: a rare presentation.","authors":"Wen Sun, Kexin Wang, Yuekang Ren, Huajie Yuan, Xiaoqing Lang, Shuping Guo, Hongye Liu","doi":"10.3389/fmed.2024.1527257","DOIUrl":"10.3389/fmed.2024.1527257","url":null,"abstract":"<p><p>A 42 year-old male with prurigo nodularis treated with dupilumab showed a case of linear psoriasis, highlighting the potential of dupilumab to induce immune shift and chimeric gene expression.</p>","PeriodicalId":12488,"journal":{"name":"Frontiers in Medicine","volume":"11 ","pages":"1527257"},"PeriodicalIF":3.1,"publicationDate":"2025-01-27","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11807798/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143390758","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
Frontiers in MedicinePub Date : 2025-01-27eCollection Date: 2025-01-01DOI: 10.3389/fmed.2025.1462860
Romolo Di Iorio, Paola Bianchi, Elena Casolati, Elena Piccolo, Mario Mangrella
{"title":"Assessing the approaches to nausea and vomiting in pregnancy: insights from a nationwide survey of Italian gynecologists (PURITY light).","authors":"Romolo Di Iorio, Paola Bianchi, Elena Casolati, Elena Piccolo, Mario Mangrella","doi":"10.3389/fmed.2025.1462860","DOIUrl":"10.3389/fmed.2025.1462860","url":null,"abstract":"<p><strong>Introduction: </strong>Nausea and vomiting in pregnancy (NVP) affect approximately 70-85% of pregnant women, starting between weeks 6 and 8 and often subsiding by week 20. This study evaluates the therapeutic approaches of Italian gynecologists in the treatment of NVP. In the Italian healthcare system, gynecologists play a central role in prenatal care and are the primary healthcare providers for pregnant women, unlike in other countries where midwives may have a more prominent role.</p><p><strong>Methods: </strong>From June to September 2022, a survey of Italian gynecologists was conducted during 15 scientific conferences. The questionnaire collected demographic data and information on clinical practices to support the management of NVP. Statistical analysis assessed the effect of demographic characteristics on clinical behavior.</p><p><strong>Results: </strong>Data from 157 participants, mainly women (72.61%) and professionals from the Public Health System (63.69%), were analyzed. 77.71% always checked NVP during the first visit, based on patients' reports (84.71%). 54.78% prescribed medication in mild cases, mainly the doxylamine/pyridoxine combination (64.97%).</p><p><strong>Discussion: </strong>The results show varied practices influenced by demographic and professional factors. Many physicians treat only severe cases of NVP, perceiving it as a transient discomfort, which may lead to poor management. Balanced care is needed to improve the quality of life for pregnant women with NVP.</p>","PeriodicalId":12488,"journal":{"name":"Frontiers in Medicine","volume":"12 ","pages":"1462860"},"PeriodicalIF":3.1,"publicationDate":"2025-01-27","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11808362/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143390774","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
Frontiers in MedicinePub Date : 2025-01-27eCollection Date: 2025-01-01DOI: 10.3389/fmed.2025.1498928
Ting Long, Jing Xu, Bo-Zhi Lin, Sheng-Guang Li
{"title":"Early identification of macrophage activation syndrome in adult-onset Still's disease: a case report and literature review.","authors":"Ting Long, Jing Xu, Bo-Zhi Lin, Sheng-Guang Li","doi":"10.3389/fmed.2025.1498928","DOIUrl":"10.3389/fmed.2025.1498928","url":null,"abstract":"<p><strong>Background: </strong>Adult-onset Still's disease (AOSD) is a rare systemic inflammatory disorder characterized by high spiking fevers, evanescent rash, and polyarthritis. A serious complication of AOSD is macrophage activation syndrome (MAS), a life-threatening hyperinflammatory condition that can lead to multiorgan failure if not promptly diagnosed and treated.</p><p><strong>Objective: </strong>This case report and literature review focus on the early identification of MAS in patients with AOSD, highlighting diagnostic challenges, differential diagnoses, and the utility of scoring systems like the HScore and MS score in clinical practice.</p><p><strong>Case presentation: </strong>We report the case of an 80-year-old woman who presented with a complex diagnostic challenge involving AOSD complicated by MAS and concurrent cytomegalovirus (CMV) infection. Her clinical course was marked by recurrent high fevers, cytopenias, hyperferritinemia, and liver dysfunction. Despite extensive workup, initial diagnoses of infections and autoimmune conditions were considered and ruled out. The HScore and MS score were calculated to be 210 and 1.607, respectively, both indicative of MAS. The patient was treated according to the HLH-94 protocol, with high-dose dexamethasone and etoposide, alongside broad-spectrum antimicrobial and antiviral therapy. She responded well to treatment, with resolution of fever and improvement in clinical symptoms.</p><p><strong>Discussion: </strong>The overlap between AOSD and MAS symptoms complicates early diagnosis, making scoring systems critical in differentiating MAS from other conditions. The HScore and MS score provided a structured approach to diagnosis, guiding timely intervention and improving the patient's prognosis. Our literature review emphasizes the importance of early recognition and integration of these scoring systems into routine clinical practice to enhance outcomes.</p><p><strong>Conclusion: </strong>This case underscores the necessity of early identification and intervention in MAS associated with AOSD. The application of diagnostic scoring systems like the HScore and MS score is essential for prompt diagnosis and effective treatment, ultimately improving patient survival rates.</p>","PeriodicalId":12488,"journal":{"name":"Frontiers in Medicine","volume":"12 ","pages":"1498928"},"PeriodicalIF":3.1,"publicationDate":"2025-01-27","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11808000/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143390725","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
Frontiers in MedicinePub Date : 2025-01-24eCollection Date: 2025-01-01DOI: 10.3389/fmed.2025.1512673
Jia Zhang, MengYue Guo, DongYang Yuan, JinYang Wei, Hongzhou Cui
{"title":"Erlotinib therapy for Olmsted syndrome with p.L655P missense mutation in the <i>TRPV3</i> gene: a case report.","authors":"Jia Zhang, MengYue Guo, DongYang Yuan, JinYang Wei, Hongzhou Cui","doi":"10.3389/fmed.2025.1512673","DOIUrl":"10.3389/fmed.2025.1512673","url":null,"abstract":"<p><p>Olmsted syndrome (OS) is a rare disorder characterized by a mutilating palmoplantar keratoderma and periorificial keratotic plaques, but which shows considerable clinical heterogeneity. Recently, transient receptor potential vanilloid 3 (<i>TRPV3</i>) mutations associated with autosomal dominant or recessive OS have been reported. Here we describe a classically OS case with definitive diagnosis of OS based on clinical features and a genetic assay. Genetic analysis revealed heterozygous variants in the <i>TRPV3</i> gene using whole-exome sequencing of case-parents' trios. This mutation was not identified in his mother. Notably, a previously unreported heterozygous frameshift mutation, c.1964 T > C (p.L655P), was identified in exon 15 of the <i>TRPV3</i> gene in this patient and his father. Additionally, the patient was effectively managed with oral erlotinib at a daily dose of 75 mg. After 3 months of treatment, most plantar lesions resolved, and the pain experienced was mildly alleviated. No significant adverse effects were observed in this case during treatment. In addition, we review the OS literature regarding <i>TRPV3</i> gene mutations.</p>","PeriodicalId":12488,"journal":{"name":"Frontiers in Medicine","volume":"12 ","pages":"1512673"},"PeriodicalIF":3.1,"publicationDate":"2025-01-24","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11802424/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143382102","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
Frontiers in MedicinePub Date : 2025-01-24eCollection Date: 2024-01-01DOI: 10.3389/fmed.2024.1506686
Theyazn Aldhyani, Zeyad A T Ahmed, Bayan M Alsharbi, Sultan Ahmad, Mosleh Hmoud Al-Adhaileh, Ahmed Hassan Kamal, Mohammed Almaiah, Jabeen Nazeer
{"title":"Diagnosis and detection of bone fracture in radiographic images using deep learning approaches.","authors":"Theyazn Aldhyani, Zeyad A T Ahmed, Bayan M Alsharbi, Sultan Ahmad, Mosleh Hmoud Al-Adhaileh, Ahmed Hassan Kamal, Mohammed Almaiah, Jabeen Nazeer","doi":"10.3389/fmed.2024.1506686","DOIUrl":"10.3389/fmed.2024.1506686","url":null,"abstract":"<p><strong>Introduction: </strong>Bones are a fundamental component of human anatomy, enabling movement and support. Bone fractures are prevalent in the human body, and their accurate diagnosis is crucial in medical practice. In response to this challenge, researchers have turned to deep-learning (DL) algorithms. Recent advancements in sophisticated DL methodologies have helped overcome existing issues in fracture detection.</p><p><strong>Methods: </strong>Nevertheless, it is essential to develop an automated approach for identifying fractures using the multi-region X-ray dataset from Kaggle, which contains a comprehensive collection of 10,580 radiographic images. This study advocates for the use of DL techniques, including VGG16, ResNet152V2, and DenseNet201, for the detection and diagnosis of bone fractures.</p><p><strong>Results: </strong>The experimental findings demonstrate that the proposed approach accurately identifies and classifies various types of fractures. Our system, incorporating DenseNet201 and VGG16, achieved an accuracy rate of 97% during the validation phase. By addressing these challenges, we can further improve DL models for fracture detection. This article tackles the limitations of existing methods for fracture detection and diagnosis and proposes a system that improves accuracy.</p><p><strong>Conclusion: </strong>The findings lay the foundation for future improvements to radiographic systems used in bone fracture diagnosis.</p>","PeriodicalId":12488,"journal":{"name":"Frontiers in Medicine","volume":"11 ","pages":"1506686"},"PeriodicalIF":3.1,"publicationDate":"2025-01-24","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11803505/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143382081","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}