Diseases (Basel, Switzerland)最新文献

{"title":"An Unusual Case of Anuric Acute Kidney Injury Secondary to the Use of Low-Dose Acetazolamide as Preventive Management for Acute Mountain Sickness.","authors":"Marco Dominguez Davalos, Raúl Valenzuela Córdova, Celia Rodríguez Tudero, Elena Jiménez Mayor, Carlos Bedia Castillo, José C De La Flor, Roger Leon Montesinos, Cristian León Rabanal, Michael Cieza Terrones, Javier A Neyra","doi":"10.3390/diseases13070228","DOIUrl":"10.3390/diseases13070228","url":null,"abstract":"<p><p><b>Background/Objectives</b>: Acetazolamide is widely used for acute mountain sickness (AMS) prophylaxis. Whilst generally safe, acute kidney injury (AKI) is a rare but serious adverse event. We present a case of anuric AKI following minimal exposure to acetazolamide, contributing to the limited literature on its nephrotoxicity at prophylactic doses. <b>Methods</b>: A 54-year-old previously healthy male ingested 250 mg/day of oral acetazolamide for two days. He developed acute anuria and lumbar pain. Diagnostic evaluation included laboratory tests, imaging, microbiological cultures, autoimmune panels, and diuretic response. No signs of infection, urinary tract obstruction, or systemic disease were found. <b>Results</b>: The patient met KDIGO 2012 criteria for stage 3 AKI, with peak serum creatinine of 10.6 mg/dL and metabolic acidosis. Imaging confirmed non-obstructive nephrolithiasis. Conservative treatment failed; intermittent hemodialysis was initiated. Renal function recovered rapidly, with the normalization of serum creatinine and urinary output by day 4. <b>Conclusions</b>: This case represents the lowest cumulative dose of acetazolamide reported to cause stage 3 AKI. The findings support a pathophysiological mechanism involving sulfonamide-induced crystalluria and intratubular obstruction. Physicians should consider acetazolamide in the differential diagnosis of AKI, even with short-term prophylactic use.</p>","PeriodicalId":72832,"journal":{"name":"Diseases (Basel, Switzerland)","volume":"13 7","pages":""},"PeriodicalIF":3.0,"publicationDate":"2025-07-21","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12293891/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144710042","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Functional Status in Elderly Kidney Transplant Recipients: A Systematic Review Evaluating Physical Function, Frailty, and Cognitive Impairment as Predictors of Post-Transplant Outcomes.","authors":"Hachem Araji, Yazan A Al-Ajlouni, Jana Nusier, Walid Sange, Elie El-Charabaty, Suzanne El-Sayegh","doi":"10.3390/diseases13070229","DOIUrl":"10.3390/diseases13070229","url":null,"abstract":"<p><strong>Background: </strong>The management of end-stage renal disease (ESRD) is undergoing a paradigm shift, with increasing emphasis on kidney transplantation as a preferred treatment modality for elderly patients (≥65 years), who constitute a substantial portion of new ESRD cases. Transplantation offers markedly superior survival and quality of life (QoL) advantages compared to dialysis for this demographic. Nevertheless, key determinants such as frailty, physical functionality, and cognitive function have emerged as critical predictors of post-transplant success. Despite their relevance, standardized methodologies for evaluating these parameters in transplantation candidacy remain absent. This systematic review examines the influence of frailty, physical functionality, and cognitive function on outcomes in elderly kidney transplant recipients.</p><p><strong>Methods: </strong>Adhering to PRISMA guidelines, a rigorous literature search was conducted across PubMed, CINAHL, Embase, PsycINFO, and the Web of Science for studies published up to October 31, 2024. Relevant studies focused on elderly transplant candidates and examined correlations between frailty, physical functionality, or cognitive function and post-transplant outcomes. The Newcastle-Ottawa Scale was employed to evaluate studies quality.</p><p><strong>Results: </strong>Seven studies met the inclusion criteria. Five explored physical functionality, demonstrating that better pre-transplant physical performance predicts enhanced survival. Two studies addressed frailty, utilizing the Fried frailty phenotype, and linked frailty to elevated mortality and diminished QoL recovery. Notably, no studies explored cognitive function in elderly kidney transplant candidates or recipients and its association with post-transplant outcomes, exposing a salient gap in the literature. The included studies' varied methodologies, reliance on single time-point assessments, and exclusive focus on kidney transplant recipients restrict both comparability among studies and the generalizability of findings to the broader end-stage renal disease (ESRD) population.</p><p><strong>Conclusions: </strong>These findings underscore the profound impact of physical functionality and frailty on transplant outcomes in the growing elderly kidney transplant population, illuminating the necessity for standardized assessment protocols and targeted pre-transplant interventions. The critical gap in cognitive function research underscores a vital direction for future investigation. This research received no external funding. This review is registered with PROSPERO under registration ID CRD42025645838.</p>","PeriodicalId":72832,"journal":{"name":"Diseases (Basel, Switzerland)","volume":"13 7","pages":""},"PeriodicalIF":3.0,"publicationDate":"2025-07-21","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12293760/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144710056","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Therapeutic Implications of Menin Inhibitors in the Treatment of Acute Leukemia: A Critical Review.","authors":"Martina Canichella, Cristina Papayannidis, Carla Mazzone, Paolo de Fabritiis","doi":"10.3390/diseases13070227","DOIUrl":"10.3390/diseases13070227","url":null,"abstract":"<p><p>Menin inhibitors are a class of targeted agents that exemplify how a deeper understanding of leukemia pathogenesis can unify seemingly distinct genetic acute leukemia subgroups under a common therapeutic strategy. In particular, acute leukemia with <i>NPM1</i> mutations <i>(NPM1</i>m) and <i>KMT2A</i> rearrangements (<i>KMT2A</i>r) represent the primary targets of this emerging drug class. Acute myeloid leukemia (AML) with <i>NPM1</i>m-which accounts for approximately 30% of AML cases and AML or acute lymphoblastic leukemia (ALL) with <i>KMT2A</i>r-and is present in 5-10% of cases, shares a common pathogenetic mechanism: the aberrant activation of the <i>MEIS1-HOXA</i> axis. These leukemic subsets are associated with poor prognosis, particularly in the relapsed/refractory (R/R) setting. For <i>KMT2A</i>r AML, the prognosis is especially dismal, with a median overall survival (OS) of 2.4 months and a complete remission (CR) rate of only 5%. In <i>NPM1</i>m AML, intensive chemotherapy achieves remission in approximately 80% of cases, but relapse remains a major challenge, occurring in nearly 50% of patients. Relapsed <i>NPM1</i>m AML is linked to a poor prognosis, with a median OS of 6.1 months (12-month OS: 30%) and a median relapse-free survival (RFS) of 5.5 months (12-month RFS: 34%). Menin inhibitors directly target the leukemogenic transcriptional program driven by <i>HOX</i> and <i>MEIS1</i>, disrupting oncogenic signaling and offering a promising therapeutic approach for these high-risk patients. This class of agents has rapidly progressed through clinical development, showing promising antileukemic activity in both treatment-naïve and R/R AML. Currently, six menin inhibitors are in clinical evaluation as monotherapy or in combination regimens: revumenib, ziftomenib, bleximenib (previously JNJ-75276617), enzomenib (previously DSP-5336), DS-1594, and BMF-219. In this review, we critically analyze the clinical development and therapeutic potential of the four most extensively studied menin inhibitors-revumenib, ziftomenib, bleximenib, and enzomenib. We discuss their efficacy, safety profiles, and potential roles within the current treatment algorithm. The continued clinical evaluation of menin inhibitors may redefine treatment paradigms for <i>NPM1</i>m and <i>KMT2A</i>r AML and other acute leukemia with the aberrant <i>MEIS1-HOXA</i> axis, offering new hope for patients with limited therapeutic options.</p>","PeriodicalId":72832,"journal":{"name":"Diseases (Basel, Switzerland)","volume":"13 7","pages":""},"PeriodicalIF":3.0,"publicationDate":"2025-07-19","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12294120/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144710102","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Psychotic Symptoms in Cataract Patients Without Overt Psychosis Are Ameliorated Following Successful Cataract Surgery.","authors":"Georgios D Floros, Ioanna Mylona, Stylianos Kandarakis","doi":"10.3390/diseases13070224","DOIUrl":"10.3390/diseases13070224","url":null,"abstract":"<p><strong>Background: </strong>Cataract is the leading cause of severe, non-traumatic vision loss worldwide, leading to multiple adverse outcomes in mental health, including depression, anxiety, and cognitive decline; however, the relationship to psychotic symptoms remains unclear. While congenital vision loss appears protective against psychosis, acquired vision loss or acute deprivation are inducing psychotic symptoms.</p><p><strong>Methods: </strong>This study of 200 consecutive cataract patients, with severe vision loss, compares Paranoid Ideation and Psychoticism symptoms pre surgery, measured with the SCL-90-R scale, to those symptoms that persisted two months post-surgery.</p><p><strong>Results: </strong>The results confirm the hypothesis that cataract surgery is associated with a reduction in those symptoms (Wilcoxon Z = 5.425, <i>p</i> < 0.001 for Paranoid Ideation and Wilcoxon Z = 6.478, <i>p</i> < 0.001 for Psychoticism). Higher improvement in those variables was associated with higher improvement in visual acuity while controlling for age, gender and stressful life events during the past six months.</p><p><strong>Conclusions: </strong>Those results point to the importance of addressing loss of visual function especially in patients with pre-existing psychotic symptoms or signs of cognitive decline.</p>","PeriodicalId":72832,"journal":{"name":"Diseases (Basel, Switzerland)","volume":"13 7","pages":""},"PeriodicalIF":3.0,"publicationDate":"2025-07-18","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12293764/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144710095","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Efficacy of Dupilumab in a Young Woman with Refractory Cutaneous Lichen Planus: A Case-Based Review.","authors":"Cristina Guerriero, Luisa Boeti, Francesco Mastellone, Giulia Coscarella, Gennaro Marco Falco, Gerardo Palmisano, Helena Pelanda, Ketty Peris, Donato Rigante","doi":"10.3390/diseases13070225","DOIUrl":"10.3390/diseases13070225","url":null,"abstract":"<p><p><i>Background:</i> Cutaneous lichen planus (CLP) is a chronic inflammatory T cell-mediated disease driven by a mixed Th1 and Th2 lymphocyte population, for which many of the currently available treatments have poor efficacy. <i>Aim:</i> The aim of this study was to indicate the clinical success of dupilumab administration after two years of treatment in a case of longstanding CLP and to perform a review of the medical literature related to the use of dupilumab in different dermatologic settings and in CLP. <i>Case presentation:</i> One 26-year-old woman with a previous history of atopic dermatitis had a long-lasting skin condition, referred to as a suspected lichen, which started when she was 7 years old. Her disease exhibited a relapsing-remitting course with severe bouts of pruritus over a very long period. The final histological diagnosis of CLP was confirmed at the age of 26. Starting dupilumab (injected subcutaneously at a dose of 600 mg followed by a maintenance dose of 300 mg every two weeks) resolved the skin scenery of this patient, who is currently in full remission. <i>Conclusions:</i> The remarkable recovery from CLP obtained via treatment with dupilumab in this single-patient case study emphasizes the potential therapeutic implications of targeting the Th2 pathway in this skin disorder.</p>","PeriodicalId":72832,"journal":{"name":"Diseases (Basel, Switzerland)","volume":"13 7","pages":""},"PeriodicalIF":3.0,"publicationDate":"2025-07-18","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12293882/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144710050","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Atypical Rapid Onset of Olmesartan-Induced Enteropathy with Recurrence After Rechallenging.","authors":"Lila Bekkai, Aymen Ibn Majah, Laurine Verset, Lucas Jacobs, Charline Danneel, Okyay Elkilic, Frédéric Collart, Joëlle Nortier, Maxime Taghavi","doi":"10.3390/diseases13070223","DOIUrl":"10.3390/diseases13070223","url":null,"abstract":"<p><strong>Background: </strong>Olmesartan-induced enteropathy is a rare complication of a widely used angiotensin II receptor blocker. Patients usually present with chronic diarrhea and weight loss. Histologically, villous atrophy and intraepithelial lymphocyte infiltrates within the duodenum confirm the diagnosis. The prognosis is usually good after withdrawal of the offending drug.</p><p><strong>Case presentation: </strong>Here, we report the case of a 76-year-old woman who developed a severe form of Olmesartan-induced enteropathy complicated by acute kidney injury and acute recurrence after drug rechallenge. After definite cessation of the drug, the patient did not experience any gastrointestinal (GI) symptom recurrence after 6 months of follow-up. However, she experienced chronic kidney disease stage G3b. Histological analysis did not show any villous atrophy or intraepithelial lymphocyte infiltrates within the duodenum or the colon biopsy.</p><p><strong>Discussion and conclusion: </strong>This case highlights the broad spectrum of clinical manifestations and histological findings in Olmesartan-induced enteropathy. It also highlights the importance of rapid diagnosis in order to limit organ damage such as chronic kidney disease.</p>","PeriodicalId":72832,"journal":{"name":"Diseases (Basel, Switzerland)","volume":"13 7","pages":""},"PeriodicalIF":3.0,"publicationDate":"2025-07-18","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12294883/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144710044","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Endovascular Treatment of a Symptomatic Vertebral Artery Aneurysm in a Puerperal Patient with Neurofibromatosis Type 1-A Case Report and Review of the Literature.","authors":"Nikola Mirkovic, Marko Prokic, Nikola Prodanovic, Tamara Nikolic Turnic, Nikola Andric, Tijana Prodanovic, Neda Arsenijevic, Ivan Simic, Dragan Knezevic, Aleksandar Matic","doi":"10.3390/diseases13070226","DOIUrl":"10.3390/diseases13070226","url":null,"abstract":"<p><strong>Introduction: </strong>Primary extracranial vertebral artery aneurysms are sporadic in the general population. They are uncommon in individuals with neurofibromatosis type 1. During pregnancy or in the puerperium, the risk of aneurysm rupture in individuals with neurofibromatosis type 1 and extracranial aneurysms is elevated. Rupture of a vertebral artery aneurysm is an emergency condition and can be fatal.</p><p><strong>Case presentation: </strong>We present the case of a 33-year-old woman in the puerperium with neurofibromatosis type 1 who had a vertebral symptomatic artery aneurysm. During a previous hospitalization, two months before the treatment of the vertebral aneurysm, a same-sided aneurysm of the thyrocervical trunk was successfully treated with endovascular coiling because of aneurysm rupture. In this case report, the vertebral artery aneurysm was successfully managed using a flow diverter stent graft.</p><p><strong>Conclusions: </strong>This is the first reported case of a successfully treated symptomatic vertebral artery aneurysm with a flow diverter stent graft in a patient with neurofibromatosis type 1 during the early puerperium. Endovascular treatment with a stent graft is a minimally invasive, safe, and effective treatment for patients with vertebral artery aneurysms. Early diagnosis of non-ruptured vertebral artery aneurysms is a crucial as well as appropriate treatment, which should be undertaken in a timely manner to prevent serious complications or a fatal outcome.</p>","PeriodicalId":72832,"journal":{"name":"Diseases (Basel, Switzerland)","volume":"13 7","pages":""},"PeriodicalIF":3.0,"publicationDate":"2025-07-18","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12295916/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144710051","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Establishing the First Genetic Variant Registry for Breast and Ovarian Cancer in Colombia: Insights and Implications.","authors":"Robert de Deugd, Julián Camilo Riano, Esther de Vries, Andrés F Cardona, July Rodriguez, Ana Fidalgo-Zapata, Yesid Sanchez, Santiago Sanchez, Justo Olaya, Daniel de Leon, Carlos Andrés Ossa, Humberto Reynales, Paula Quintero, Elizabeth Vargas, Ute Hamann, Diana Torres","doi":"10.3390/diseases13070222","DOIUrl":"10.3390/diseases13070222","url":null,"abstract":"<p><strong>Background: </strong>Genetic insights from diverse populations are key to advancing cancer detection, treatment, and prevention. Unlike other Latin American countries, Colombia lacks a centralized registry for germline and somatic mutations in breast and ovarian cancer. This study describes the country's first national variant registry, and the occurrence of recurrent mutations and potential founder effects in Colombia.</p><p><strong>Methods: </strong>To address this gap, we implemented the first capturing protocol using the REDCap system. In a group of 213 breast and/or ovarian cancer patients harboring genetic mutations, we collected genetic, clinical, and demographic data from 13 regional centers across Colombia. Statistical analyses assessed variant distribution and patient demographics.</p><p><strong>Results: </strong>Among 229 identified variants (105 germline, 124 somatic), most were classified as pathogenic or likely pathogenic (72.4% germline, 87% somatic). <i>BRCA1</i> and <i>BRCA2</i> accounted for the majority of recurrent mutations. Germline recurrent variants (seen >3 times) were recorded for <i>BRCA1</i> (77.7%; 21/27) and <i>BRCA2</i> (22.3%; 6/27). Similarly, recurrent somatic variants were identified for <i>BRCA1</i> (82.6%; 38/46) and <i>BRCA2</i> (17.4%; 8/46). Notably, four recurrent variants were previously reported as founder mutations: <i>BRCA1</i> c.1674del (14.3% germline and 23.7% somatic), <i>BRCA1</i> c.3331_3334del (33.3% germline and 52.6% somatic), <i>BRCA1</i> c.5123C>A (52.4% germline and 23.7% somatic), and <i>BRCA2</i> c.2808_2811del (50% germline and 50% somatic). Most cases originated from the Andean region, highlighting regional disparities.</p><p><strong>Conclusions: </strong>This registry offers the first overview of genetic variants in Colombian breast and ovarian cancer patients. Recurrent and region-specific mutations highlight the need for population-focused data to guide targeted screening and personalized care strategies.</p>","PeriodicalId":72832,"journal":{"name":"Diseases (Basel, Switzerland)","volume":"13 7","pages":""},"PeriodicalIF":3.0,"publicationDate":"2025-07-18","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12293925/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144710052","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Cellular and Molecular Bases for the Application of Polyphenols in the Prevention and Treatment of Cardiovascular Disease.","authors":"Carlo Caiati, Emilio Jirillo","doi":"10.3390/diseases13070221","DOIUrl":"10.3390/diseases13070221","url":null,"abstract":"<p><strong>Background: </strong>Cardiovascular disease (CVD) is very widespread in countries with a Western-style diet, representing one of the major causes of morbidity. Genetic factors, obesity, diabetes, dyslipidemia, smoking, and ageing are risk factors for CVD outcomes. From a pathogenic point of view, the condition of low-grade inflammation of the arteries leads to endothelial damage and atherosclerosis development. Nowadays, a broad range of drugs is available to treat CVD, but many of them are associated with side effects. Therefore, alternative therapeutic remedies need to be discovered in combination with conventional drugs. A balanced diet rich in fruits and vegetables, e.g., the Mediterranean diet, has been shown to lower the incidence of CVD. Plant-derived polyphenols are ingested in food, and these compounds can exert beneficial effects on human health, such as antioxidant and anti-inflammatory activities.</p><p><strong>Objective: </strong>In the present review, the cellular and molecular bases of the beneficial effects of polyphenols in the prevention and treatment of CVD will be pointed out.</p><p><strong>Methods: </strong>This review has been conducted on the basis of a literature review spanning mainly the last two decades.</p><p><strong>Results: </strong>We found that an increased dietary intake of polyphenols is associated with a parallel decrease in chronic disease incidence, including CVD.</p><p><strong>Conclusion: </strong>Despite a plethora of preclinical studies, more clinical trials are needed for a more appropriate treatment of CVD with polyphenols.</p>","PeriodicalId":72832,"journal":{"name":"Diseases (Basel, Switzerland)","volume":"13 7","pages":""},"PeriodicalIF":3.0,"publicationDate":"2025-07-15","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12293885/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144710046","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Myxoid Liposarcoma of the Thigh in Early Puerperium-Rare Case Report and Narrative Review.","authors":"Tomasz Machałowski, Piotr Gutowski, Edyta Zagrodnik, Aleksandra Godlewska, Katarzyna Śmieja, Oliwia Kawałek, Anna Grzymała-Figura, Sylwester Michał Ciećwież, Katarzyna Gross-Kępińska, Małgorzata Szczuko, Maciej Ziętek","doi":"10.3390/diseases13070220","DOIUrl":"10.3390/diseases13070220","url":null,"abstract":"<p><strong>Background: </strong>Liposarcoma (LPS) is a rare malignant tumor, but it is also one of the most common adult soft-tissue sarcomas. Myxoid liposarcoma (MLPS) accounts for 30% of all LPS cases. Diagnosis during pregnancy and the puerperium is very rarely reported, and only a few cases have been reported in the thigh.</p><p><strong>Case presentation: </strong>We report the case of a 36-year-old female patient on the 11th day of the puerperium after a cesarean section. The patient presented to the gynecology ward owing to the sudden appearance of a tumor in the medial part of her right thigh. The lesion was non-painful, mobile, soft, approximately 20 cm in diameter, and protruded above the level of the rest of the thigh surface. A suspicion of hematoma was raised. The final diagnosis was high-grade MLPS.</p><p><strong>Conclusions: </strong>An MLPS diagnosis is uncommon in female patients and even rarer during pregnancy. This case represents a novel occurrence, as the first instance in which symptoms manifested during the puerperium. Proper treatment and early detection could improve disease outcomes.</p>","PeriodicalId":72832,"journal":{"name":"Diseases (Basel, Switzerland)","volume":"13 7","pages":""},"PeriodicalIF":3.0,"publicationDate":"2025-07-14","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12293608/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144710073","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}