Advances in Clinical and Experimental Medicine最新文献

{"title":"Antigravity treadmill training after knee surgery: A scoping review.","authors":"Hassan Tarek Hakam, Monika Kentel, Mateusz Kowal, Aleksandra Królikowska, Paweł Reichert, Maciej Daszkiewicz, Maciej Kentel, Roland Becker, Nikolai Ramadanov, Robert Prill","doi":"10.17219/acem/189612","DOIUrl":"https://doi.org/10.17219/acem/189612","url":null,"abstract":"<p><p>Antigravity treadmill training provides a viable option for physiotherapeutic care after knee surgery, especially for conditions that do not allow full weight bearing during the early phase post-intervention. This overview of the current state of knowledge identifies gaps and highlights areas where more research on antigravity treadmill training after knee surgery is needed. This review aimed to analyze and summarize the available evidence concerning the effects of antigravity treadmill training on patients after knee joint surgical procedures, including anterior cruciate ligament reconstruction (ACLR) and total (TKA) and unicompartmental knee arthroplasty (UKA). Several databases were searched for relevant material, including PubMed, Epistemonikos, the Cochrane Library, the Web of Science, and Google Scholar. Seven studies investigating antigravity treadmill training after various procedures were included, including ACLR and TKA. The studies were summarized, and the quality of evidence was evaluated using the appropriate tools. The evidence yielded by these studies suggests that antigravity treadmill training might be useful after knee surgery. However, the superiority over traditional physiotherapeutic measures has yet to be established. Therefore, future high-quality randomized controlled trials (RCTs) are needed to investigate the effect of antigravity treadmill training due to the low quality of available evidence. Also, a cost-effectiveness analysis is required to determine whether the investigated intervention fits the purpose.</p>","PeriodicalId":7306,"journal":{"name":"Advances in Clinical and Experimental Medicine","volume":" ","pages":""},"PeriodicalIF":2.1,"publicationDate":"2024-10-21","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142455707","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}

{"title":"Evaluation of optical and mechanical properties of crown materials produced by 3D printing.","authors":"Emre Tokar, Merve Nezir, Serdar Polat, Suat Özcan","doi":"10.17219/acem/189856","DOIUrl":"https://doi.org/10.17219/acem/189856","url":null,"abstract":"<p><strong>Background: </strong>The various advantages of crown materials produced using three-dimensional (3D) printers have increased their use in restorative and prosthetic dentistry in recent years. Accordingly, their optical and mechanical properties have become more important.</p><p><strong>Objectives: </strong>To evaluate the mechanical, surface and optical properties of crown materials produced with 3D printing and computer-aided design (CAD)/computer-aided manufacturing (CAM), which has recently been used frequently in the clinic.</p><p><strong>Material and methods: </strong>The 3-point bending test was used to evaluate the mechanical properties of 2 different crown materials produced with 3D printing (Permanent Crown and VarseoSmile Crown Plus) and a crown material produced using CAD/CAM (Vita Enamic). After the initial color and surface roughness measurements were made, the specimens were immersed in 4 different solutions.</p><p><strong>Results: </strong>The most translucent material was VarseoSmile Crown Plus (p < 0.05). In all specimens, coffee caused the most discoloration (p < 0.05). The effects of the solutions on the roughness were mostly observed in Permanent Crown specimens (p < 0.05). Vita Enamic showed the highest statistically significant values in terms of flexural strength (p < 0.05).</p><p><strong>Conclusions: </strong>The stereolithographic technique among the materials produced by 3D printing can be recommended for use in restorations due to its higher flexural strength.</p>","PeriodicalId":7306,"journal":{"name":"Advances in Clinical and Experimental Medicine","volume":" ","pages":""},"PeriodicalIF":2.1,"publicationDate":"2024-10-21","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142455719","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}

{"title":"Clinical and radiological assessment of the Polish modification of the Ilizarov external fixator for the treatment of intra-articular calcaneal fractures.","authors":"Piotr Morasiewicz, Marcin Pelc, Łukasz Tomczyk, Joanna Kochanska-Bieri, Andrzej Bobiński, Daniele Pili, Paweł Reichert","doi":"10.17219/acem/192772","DOIUrl":"https://doi.org/10.17219/acem/192772","url":null,"abstract":"<p><strong>Background: </strong>There is currently no established gold standard for the treatment of calcaneal fractures.</p><p><strong>Objectives: </strong>To conduct a clinical and radiological evaluation of patients following intra-articular calcaneal fractures treated with the Polish modification of the Ilizarov method.</p><p><strong>Material and methods: </strong>This was a 2-center retrospective study. We evaluated 27 patients (2 women and 25 men) aged 28-73 years (mean age 50.5 years) after treatment of intra-articular calcaneal fractures with the Polish modification of the Ilizarov method. We assessed pain using a visual analogue scale (VAS), American Orthopedic Foot and Ankle Society (AOFAS) scores, patient satisfaction with treatment, use of analgesics, duration of Ilizarov treatment, length of hospital stay, duration of surgery, patient's declared willingness to choose the same treatment again, complications, degenerative changes, Böhler angle, inflection angle, and Gissane angle.</p><p><strong>Results: </strong>The mean follow-up period was 3 years and 2 months. Following treatment, the mean VAS pain score was 2.3. Prior to surgery, all patients were taking analgesics in comparison with only 2 patients (7.4%) at long-term follow-up. The treatment was rated as satisfactory by 11 patients, with 16 patients rating it as highly satisfactory. The mean post-treatment AOFAS score was 76.6 points. The Ilizarov fixator was removed after a mean period of 88 days. The mean duration of hospital stay was 7.4 days. The mean duration of the procedure was 44 min. All patients would choose the same treatment again. Complications were observed in 5 patients. The long-term follow-up visit revealed degenerative changes in the talocalcaneal joint in 8 patients. The median Böhler angle was 5.5° preoperatively and 28.5° postoperatively, p < 0.001. The median preoperative inflection angle of 160° decreased to 145°, p < 0.001. The median preoperative Gissane's angle of 119° increased significantly to a median postoperative value of 143°, p < 0.001.</p><p><strong>Conclusions: </strong>The patients achieved good clinical and radiological outcomes.</p>","PeriodicalId":7306,"journal":{"name":"Advances in Clinical and Experimental Medicine","volume":" ","pages":""},"PeriodicalIF":2.1,"publicationDate":"2024-10-16","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142455709","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}

{"title":"Association between preoperative advanced lung cancer inflammation index and recurrence of hepatocellular carcinoma after curative resection.","authors":"Weidong Yuan, Hewei Zhao, Shaochuang Wang","doi":"10.17219/acem/188424","DOIUrl":"https://doi.org/10.17219/acem/188424","url":null,"abstract":"<p><strong>Background: </strong>The association between the advanced lung cancer inflammation index (ALI) and the recurrence of hepatocellular carcinoma (HCC) in patients treated with curative resection and its predictive value remains unclear.</p><p><strong>Objectives: </strong>To assess the association between preoperative ALI and the recurrence of HCC in patients treated with surgical resection.</p><p><strong>Material and methods: </strong>This retrospective study analyzed patients with HCC treated with surgical resection at The Affiliated Huai'an No. 1 People's Hospital of Nanjing Medical University (Huai'an, China) from 2019 to 2021. The advanced lung cancer inflammation index was calculated as (BMI × ALB/NLR), where BMI = body mass index, ALB = serum albumin and NLR = neutrophil-lymphocyte ratio. Univariate and multivariable Cox proportional risk models were performed to evaluate the association between the ALI and recurrence of HCC patients treated with surgical resection. Subgroup analyses were conducted based on age, sex, performance status (PS), cirrhosis, pathological staging, tumor grading, tumor size, and number of tumors.</p><p><strong>Results: </strong>Among the 295 HCC patients treated with surgical resection, 180 patients (61.02%) had recurrences, with the mean follow-up being 462 (187, 730) days. Patients with higher ALI scores were significantly less likely to have a recurrence of HCC after surgical resection (hazard ratio (HR): 0.59, 95% confidence interval (95% CI): 0.42-0.83, p = 0.003). Based on subgroup analyses, HCC patients undergoing surgical resection with higher ALI scores were associated with recurrence in those ≥60 years of age, with tumors ≥5 cm, and in patients with single tumors and ≥2 tumors.</p><p><strong>Conclusions: </strong>This study confirms the association between ALI and the reduced risk of recurrence in HCC patients treated with surgical resection.</p>","PeriodicalId":7306,"journal":{"name":"Advances in Clinical and Experimental Medicine","volume":" ","pages":""},"PeriodicalIF":2.1,"publicationDate":"2024-10-16","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142455708","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}

{"title":"Hematologists' state of knowledge on practical aspects of hemophagocytic lymphohistiocytosis (HLH) in adult patients: A Young Hematologists' Club survey.","authors":"Magdalena Witkowska, Przemysław Kasiak, Kamila Kruczkowska-Tarantowicz, Marcin Jońca, Agnieszka Walczyk, Michał Górka, Monika Sidor, Bartosz Puła, Rafał Machowicz","doi":"10.17219/acem/189945","DOIUrl":"https://doi.org/10.17219/acem/189945","url":null,"abstract":"<p><strong>Background: </strong>Hemophagocytic lymphohistiocytosis (HLH) is a life-threatening hyperinflammatory syndrome with various etiologies. Its treatment is complicated by several important but not immediately obvious issues (e.g., HLH-2004 criteria are the most commonly used for diagnosis, but the recommended therapeutic regimen is HLH-94).</p><p><strong>Objectives: </strong>The study aimed to assess hematologists' practical knowledge of HLH.</p><p><strong>Material and methods: </strong>A survey was conducted among physicians treating adult hematological patients. A 10-question paper questionnaire was distributed to physicians from various hematology centers. A total of 126 questionnaires were analyzed.</p><p><strong>Results: </strong>Most respondents had little-to-moderate experience in caring for HLH patients: 59% treated 0-2 patients and 36% treated between 3-5 patients. Among the respondents, the preferred diagnostic criteria were HLH-2004, either in its original form (5 out of 8 criteria) for 70 respondents or its modified version (4 out of 6 available criteria when ferritin exceeds 2,000 ng/mL) for 56 respondents. The preferred treatment regimen was HLH-2004, with a full dose of etoposide in 72 responses or reduced in 39 responses. Fifty percent of respondents incorrectly answered that meeting the HLH-2004 criteria necessitates the use of the HLH-94/2004 regimen in full doses and duration. Sixty-four percent of respondents correctly identified that hemophagocytosis is not necessary for the diagnosis.</p><p><strong>Conclusions: </strong>This survey reveals that the majority of surveyed physicians adhere to international HLH recommendations. However, there are instances where these guidelines are not fully implemented, which underlines the need for further efforts to raise awareness and share clinical experiences about this patient group.</p>","PeriodicalId":7306,"journal":{"name":"Advances in Clinical and Experimental Medicine","volume":" ","pages":""},"PeriodicalIF":2.1,"publicationDate":"2024-10-16","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142455720","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}

{"title":"Probiotic interventions and quality of life in patients with gastrointestinal diseases: A comprehensive review.","authors":"Xuejing Qiao, Haosheng Zhang, Lianmei Shan","doi":"10.17219/acem/188108","DOIUrl":"https://doi.org/10.17219/acem/188108","url":null,"abstract":"<p><p>Gastrointestinal disorders manifest through disruptions in gastrointestinal functionality accompanied by dysbiosis within the microbiome. Probiotics are considered biological agents with potential therapeutic efficacy in managing gastrointestinal pathologies by modulating the gut microbiota. Nevertheless, several hurdles, such as safety considerations, resilience to stressors, post-colonization quantifications, and evaluative modalities, may impede the adoption of probiotics for gastrointestinal disorders. Herein, we performed online research using 6 databases: Scopus, ScienceDirect, PubMed, Web of Science, Cochrane Library, and Ovid. Inclusion criteria were mostly articles published in the years 2015-2024, concerning the association between probiotics and gastrointestinal diseases. This review aimed to provide comprehensive data regarding the latest studies in this area. Additionally, this review delineates the various aspects of probiotic use, including both the positive and negative aspects, as well as the role of probiotics in immune system modulation and the prevention of various diseases. Also, we comprehensively discuss the prophylactic and supportive therapeutic role of probiotics in the management of COVID-19. Given the extensive adoption of probiotic formulations as microecological interventions for gastrointestinal disorders, a comprehensive understanding of the challenges inherent in their application and the implementation of contemporary methodologies to enhance probiotic colonization and evaluation systems are paramount for harnessing probiotics as viable biotherapeutic agents. However, there is a need for additional studies to confirm the potential role of probiotics as a suitable target in the treatment of gastrointestinal diseases.</p>","PeriodicalId":7306,"journal":{"name":"Advances in Clinical and Experimental Medicine","volume":" ","pages":""},"PeriodicalIF":2.1,"publicationDate":"2024-10-08","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142387161","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}

{"title":"An analysis of the clinical significance of the TKI-resistant gene ZNF687 for hepatocellular carcinoma patients.","authors":"Guan-Lan Zhang, Jian-Di Li, Ji-Feng He, Kun-Jun Wu, Ying-Yu Mo, Song-Yang Zhong, Xuan-Fei Wang, Fei-Fei Wu, Yi-Si Qin, Hong Zhao, Zhi-Guang Huang, Gang Chen, Rong-Quan He","doi":"10.17219/acem/188425","DOIUrl":"https://doi.org/10.17219/acem/188425","url":null,"abstract":"<p><strong>Background: </strong>Novel treatments such as monotherapy and combined immunotherapy significantly extend overall survival (OS) for hepatocellular carcinoma (HCC) patients, but HCC is susceptible to treatment resistance during long-term therapy. The resistance mechanism to targeted drugs in HCC remains ambiguous, making research on HCC drug resistance targets crucial for the development of precision medicine.</p><p><strong>Objectives: </strong>To investigate the transcriptional features, biological functions and potential clinical value of the tyrosine kinase inhibitor (TKI)-resistant gene ZNF687 in HCC.</p><p><strong>Material and methods: </strong>The TKI-resistant genes of HCC were identified using clustered regularly interspaced short palindromic repeats (CRISPR) in vitro screening. Then, the dependence of HCC cell lines on ZNF687 was investigated in silico. We collected global mRNA datasets of HCC tissue, integrated the mRNA expression characteristics of ZNF687 in HCC and explored the impact of ZNF687 on HCC patient prognoses using the Kaplan-Meier method (in silico). The Gene Ontology (GO) and Kyoto Encyclopedia of Genes and Genomes (KEGG) pathways analyses were then conducted, and a connectivity map and molecular docking technology were applied to find the underlying agent opposing ZNF687.</p><p><strong>Results: </strong>In vitro, the guide RNA corresponding to ZNF687 was weakly detected in HCC cells, and ZNF687 deficiency was found to inhibit growth in HCC cell lines. ZNF687 mRNA was overexpressed and had a high discriminatory ability for HCC in 2,975 HCC samples, contrasting with 2,340 non-HCC samples. Moreover, an excessive ZNF687 transcript level was related to a worse overall survival (OS) prognosis. Histone modification, spliceosome, transcription coregulator activity, and nucleocytoplasmic transport were the most significant pathways for ZNF687 differential-related gene enrichment. Chaetocin was found to be a candidate compound and presented a strong affinity to ZNF687.</p><p><strong>Conclusions: </strong>ZNF687 represents a TKI-resistant and growth-dependent gene for HCC, the overexpression of which indicates poor OS for HCC patients. Additionally, ZNF687 is expected to be a druggable target for overcoming TKI resistance, and chaetocin may be a candidate therapeutic compound for ZNF687.</p>","PeriodicalId":7306,"journal":{"name":"Advances in Clinical and Experimental Medicine","volume":" ","pages":""},"PeriodicalIF":2.1,"publicationDate":"2024-10-02","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142387159","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}

{"title":"Comparative study of quality of life after aortic valve replacement through partial upper ministernotomy versus full median sternotomy.","authors":"Michał Bociański, Mateusz Puślecki, Martyna Ratajczak, Sebastian Stefaniak, Piotr Buczkowski, Bartłomiej Perek, Marek Jemielity","doi":"10.17219/acem/190454","DOIUrl":"https://doi.org/10.17219/acem/190454","url":null,"abstract":"<p><strong>Background: </strong>Upper ministernotomy for sutureless aortic prosthesis implantation provides an attractive opportunity compared to conventional access. Although in the last decade, the former has gained popularity, data comparing quality of life (QoL) following these procedures are scarce.</p><p><strong>Objectives: </strong>The purpose of this study was to assess the patient's QoL after aortic valve replacement (AVR) using a ministernotomy approach compared to a full sternotomy.</p><p><strong>Material and methods: </strong>One hundred fifteen AVR patients were operated on using either minimally invasive access with sutureless valve implantation through an upper median ministernotomy (group I; n = 58) or through a full sternotomy (group II; n = 57) with either biological Edwards Perimount Magna™ (Edwards Lifescience, Irvine, USA) (n = 30) or mechanical On-X™ (Carbomedics, Austin, USA) (n = 27) aortic valve prostheses implantation by 1 experienced surgeon. At the end of the follow-up period, QoL was assessed using the EQ-5D-5L scale telephone survey.</p><p><strong>Results: </strong>In group I, there were significantly fewer problems with mobility, pain and usual activities than in group II (p < 0.05). Moreover, the visual analogue scale (VAS) and Health Index (HI) scores were more favorable for patients treated with ministernotomy. Additionally, group II participants provided comments beyond the survey questions, such as tiredness, dyspnea or pain. These kinds of remarks were not reported in group I. Ultimately, the EQ-5D-5L Index Score (IS) was consistent with the variables and more beneficial for group I subjects. Each group was compatible with the benefits for patients in group I.</p><p><strong>Conclusions: </strong>Cardiac surgical procedures for severe aortic stenosis through minimally invasive access are associated with improved QoL parameters.</p>","PeriodicalId":7306,"journal":{"name":"Advances in Clinical and Experimental Medicine","volume":" ","pages":""},"PeriodicalIF":2.1,"publicationDate":"2024-10-02","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142387160","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}

{"title":"Prognostic factors associated with worse outcomes in patients with GBS: A systematic review.","authors":"Marta Grelowska, Katarzyna Logoń, Edyta Dziadkowiak","doi":"10.17219/acem/186949","DOIUrl":"https://doi.org/10.17219/acem/186949","url":null,"abstract":"<p><p>Guillain-Barré syndrome (GBS) is an autoimmune polyradiculoneuropathy with diverse clinical subtypes, characterized by rapidly evolving motor weakness, sensory disturbances and areflexia. The global prevalence of GBS has been steadily increasing, with regional disparities. Mortality rates vary but remain elevated in patients requiring mechanical ventilation. This systematic review aimed to evaluate the predictive risk factors for the severity of the disease and poor shortand long-term outcomes of GBS. The literature search was conducted using the PubMed database by 2 independently working researchers. After a screening process of studies published before November 2023, a total of 109 articles were selected. Original articles, systematic and narrative reviews, meta-analyses, and editorials were selected based on their clinical relevance. The exclusion criteria included patients under 18 years of age, pregnant women and articles in languages other than English and Polish. Long-lasting GBS complications included pain, fatigue and persistent neurological deficits, affecting patients for years after recovery. Identifying the appropriate therapeutic methods, risk factors and prognoses of GBS at an early stage is crucial. Various risk factors for death and poor functional outcomes were found, regarding patient characteristics, the clinical course of GBS, laboratory and neurographic results, as well as treatment methods.</p>","PeriodicalId":7306,"journal":{"name":"Advances in Clinical and Experimental Medicine","volume":" ","pages":""},"PeriodicalIF":2.1,"publicationDate":"2024-10-02","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142387162","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}

{"title":"Chronic acid sphingomyelinase deficiency diagnosed in infancy/childhood in Polish patients: 2024 update.","authors":"Patryk Lipiński, Agnieszka Ługowska, Anna Tylki-Szymańska","doi":"10.17219/acem/193696","DOIUrl":"https://doi.org/10.17219/acem/193696","url":null,"abstract":"<p><strong>Background: </strong>Acid sphingomyelinase deficiency (ASMD) is an autosomal recessive lysosomal storage disease (LSD) associated with biallelic pathogenic variants in the sphingomyelin phosphodiesterase 1 (SMPD1) gene.</p><p><strong>Objectives: </strong>The aim of this study was to provide the 2024 update on chronic visceral and neurovisceral ASMD diagnosed in the infancy/childhood in Polish patients.</p><p><strong>Material and methods: </strong>All the patients diagnosed in the pediatric age (0-18 years) with ASMD, both chronic neurovisceral and visceral type, and then systematically followed up, were enrolled into the study.</p><p><strong>Results: </strong>A total number of 7 patients were enrolled into the study. Four patients were previously reported. Two patients were newly recognized with ASMD - 1 with chronic visceral and 1 with chronic neurovisceral ASMD. Splenomegaly was noted in all the patients while a mild liver enlargement was observed in 4 of 7 patients. All patients presented with decreased high-density lipoprotein cholesterol (HDL-C) and decreased serum 25-hydroxy-vitamin D concentration while almost all (6 of 7) with hypercholesterolemia. Cherry-red spot was observed in 5 of 7 patients, including 1 patient with neurovisceral type. Seven various SMPD1 gene variants were identified and missense variants were the most common types of genetic lesions, comprising 71% of all alleles. In all the screened patients, lyso-sphingomyelin (lyso-SM) in dried blood spot (DBS) was found elevated; however, the greater values were observed for patients with chronic neurovisceral type.</p><p><strong>Conclusion: </strong>Chronic acid sphingomyelinase deficiency (ASMD) is a slowly progressive disease. Pediatric ASMD is characterized by spleno-hepatomegaly, dyslipidemia (with decreased HDL-C as the most characteristic) and infiltrative (interstitial) lung disease. Both visceral and neurovisceral chronic ASMD patients could present with cherry-red spot. Both acid spingomyelinase activity and lyso-spingomyelin concentration in DBS should be regarded as a first-tier screening method into ASMD.</p>","PeriodicalId":7306,"journal":{"name":"Advances in Clinical and Experimental Medicine","volume":"33 10","pages":"1163-1168"},"PeriodicalIF":2.1,"publicationDate":"2024-10-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142492800","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}