Diseases (Basel, Switzerland)最新文献

{"title":"Benchmark for Setting ACTH Cell Dosage in Clinical Regenerative Medicine for Post-Operative Hypopituitarism.","authors":"Tatsuma Kondo, Hidetaka Suga, Kazuhito Takeuchi, Yutaro Fuse, Yoshiki Sato, Toshiaki Hirose, Harada Hideyuki, Yuichi Nagata, Ryuta Saito","doi":"10.3390/diseases13040112","DOIUrl":"https://doi.org/10.3390/diseases13040112","url":null,"abstract":"<p><strong>Background/objectives: </strong>Our objective is to develop hormone-producing pituitary cells that can function in the same manner as the human body and provide more effective treatments than current hormone replacement therapy. We have already established a technique for generating hypothalamic-pituitary organoids using feeder-free human pluripotent stem cells (hPSCs) and demonstrated their effectiveness in vivo through transplantation into hypopituitary mouse models. To prospectively determine the upper limit of transplanting adenohypophyseal cells into humans, we investigated the human maximum secretion capacity of adrenocorticotropic hormone (ACTH) and growth hormone (GH).</p><p><strong>Methods: </strong>We analyzed data from 28 patients with pituitary adenomas, among whom 16 evinced no abnormality of ACTH secretion and 12 showed no GH secretion on corticotropin-releasing hormone (CRH) and growth hormone-releasing hormone-2 (GHRP-2) stimulation testing.</p><p><strong>Results: </strong>The average ACTH peak value after CRH stimulation tests was 97.2 pg/mL, and the average GH peak value after GHRP-2 stimulation tests was 25.1 ng/mL.</p><p><strong>Conclusions: </strong>These data will likely serve as benchmarks of ACTH and GH secretion when transplanting cultured cells into humans.</p>","PeriodicalId":72832,"journal":{"name":"Diseases (Basel, Switzerland)","volume":"13 4","pages":""},"PeriodicalIF":2.9,"publicationDate":"2025-04-10","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12025586/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144055208","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":"Beneficial Probiotics with New Cancer Therapies for Improved Treatment of Hepatocellular Carcinoma.","authors":"Moeka Nakashima, Akari Fukumoto, Satoru Matsuda","doi":"10.3390/diseases13040111","DOIUrl":"https://doi.org/10.3390/diseases13040111","url":null,"abstract":"<p><p>Hepatocellular carcinoma (HCC) is a malignant form of primary liver cancer. Intricate networks linked to the host immune system may be associated with the pathogenesis of HCC. A huge amount of interdisciplinary medical information for the treatment of HCC has been accumulated over recent years. For example, advances in new immunotherapy have improved the results of treatment for HCC. This approach can be advantageously combined with standard conventional treatments such as surgical resection to improve the therapeutic effect. However, several toxic effects of treatments may pose a significant threat to human health. Now, a shift in mindset is important for achieving superior cancer therapy, where probiotic therapy may be considered, at least within the bounds of safety. The interplay between the gut microbiota and immune system could affect the efficacy of several anticancer treatments, including of immune checkpoint therapy via the alteration of Th17 cell function against various malignant tumors. Here, some recent anticancer techniques are discussed, whereby the growth of HCC may be effectively and safely repressed by probiotic therapy.</p>","PeriodicalId":72832,"journal":{"name":"Diseases (Basel, Switzerland)","volume":"13 4","pages":""},"PeriodicalIF":2.9,"publicationDate":"2025-04-07","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12025462/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144043136","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":"Onychomycosis Endonyx: A Systematic Review.","authors":"Ernesto De-La-Rosa-Garibay, Roberto Arenas, Martha Y Herrera-Castro, Alicia Valdez-Gaona, Gabriela Moreno-Coutiño, Paola Berenice Zarate-Segura, Fernando Bastida-González, Erick Martínez-Herrera, Rodolfo Pinto-Almazán","doi":"10.3390/diseases13040110","DOIUrl":"https://doi.org/10.3390/diseases13040110","url":null,"abstract":"<p><strong>Background/objectives: </strong>Endonyx onychomycosis is a chronic infection of the nail plate that presents as milky white discoloration, without hyperkeratosis or onycholysis, and was originally described as being caused by <i>T. soudanense</i> and <i>T. violaceum</i>.</p><p><strong>Methods: </strong>In the present review, the definitions used in the different articles and the clinical characteristics of patients diagnosed with this onychomycosis variant were analyzed through a systematic review of the reported cases in the literature using the terms \"endonyx\" AND \"onychomycosis\" in PUBMED, SciELO, SCOPUS, Web of Science, and Google Academics databases.</p><p><strong>Results: </strong>We found 28 articles with a total of 175 patients diagnosed with endonyx onychomycosis, mainly reported in Asia and Africa. Nine papers presented detailed descriptions. From these, a total of 15 immunocompetent patients were registered, and the etiological agents reported were <i>Trichophyton soudanense</i>, <i>T. rubrum</i>, <i>T. violaceum</i>, <i>T. tonsurans</i>, and <i>Fusarium</i> spp. After analyzing the definitions employed in the remaining articles, only 47.3% cited or described a concept consistent with the original description. The other 47.3% of the studies lacked a traceable criterion for the diagnosis of these cases. Moreover, most studies analyzed their data at a global level, describing little information to provide specific insights into the endonyx variant.</p><p><strong>Conclusions: </strong>Emphasis on clinical description and histopathological analysis is essential to confirm the role of less commonly reported fungi, and more accurate diagnostic and treatment protocols for this condition are mandatory.</p>","PeriodicalId":72832,"journal":{"name":"Diseases (Basel, Switzerland)","volume":"13 4","pages":""},"PeriodicalIF":2.9,"publicationDate":"2025-04-07","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12025509/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144058645","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":"Is Oral Function Associated with the Development of Sarcopenic Obesity and Sarcopenia in Older Adults? A Prospective Cohort Study.","authors":"Sho Shirotori, Yoko Hasegawa, Koutatsu Nagai, Hiroshi Kusunoki, Shogo Yoshimura, Kana Tokumoto, Hirokazu Hattori, Kayoko Tamaki, Kazuhiro Hori, Hiromitsu Kishimoto, Ken Shinmura","doi":"10.3390/diseases13040109","DOIUrl":"https://doi.org/10.3390/diseases13040109","url":null,"abstract":"<p><strong>Background: </strong>Sarcopenic obesity, defined as the concurrent loss of muscle mass and adipose tissue accumulation, is associated with reduced physical function and poor health status in older adults. Although oral function can impact the overall health of older adults, its role in the development of sarcopenic obesity remains unclear. Herein, we aimed to examine the association between oral function and the incidence of sarcopenic obesity.</p><p><strong>Methods: </strong>This longitudinal cohort study included 597 independent older adults (aged ≥65 years) from Tamba-Sasayama, a rural region of Japan, who participated in academic studies between June 2016 and December 2023. Participants underwent surveys at least twice, with a minimum two-year interval. The participants were divided into four groups (robust, obese, sarcopenic, and sarcopenic obese) according to their health condition. Sarcopenic obesity was diagnosed based on the guidelines of the Japanese Working Group on Sarcopenic Obesity. The oral function was evaluated by assessing the number of remaining teeth, tongue pressure, occlusal force, masticatory performance, and oral diadochokinesis. Cox proportional hazards regression analysis evaluated the association between oral function and the incidence of sarcopenic obesity after adjusting for relevant confounders.</p><p><strong>Results: </strong>The sarcopenic obesity group was older, had lower skeletal muscle mass, and inferior physical function. This cohort also had the highest prevalence of hypertension and significantly fewer remaining teeth. The proportion of individuals with sarcopenic obesity was 1.7% of the total population, with 2.8% in the obesity group at baseline, and 8.0% of those were diagnosed with sarcopenia progressing to sarcopenic obesity. The Cox regression model revealed that reduced tongue pressure was significantly associated with an increased risk of sarcopenic obesity, with a hazard ratio of 0.906 (95% confidence interval: 0.829-0.990; <i>p</i> = 0.028), independent of other variables related to sarcopenia and obesity.</p><p><strong>Conclusions: </strong>Our findings suggest that oral function is associated with the incidence of sarcopenic obesity but not with that of sarcopenia or obesity alone.</p>","PeriodicalId":72832,"journal":{"name":"Diseases (Basel, Switzerland)","volume":"13 4","pages":""},"PeriodicalIF":2.9,"publicationDate":"2025-04-05","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12025915/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144054180","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":"Correction: Theodorakis, N.; Nikolaou, M. The Human Energy Balance: Uncovering the Hidden Variables of Obesity. <i>Diseases</i> 2025, <i>13</i>, 55.","authors":"Nikolaos Theodorakis, Maria Nikolaou","doi":"10.3390/diseases13040108","DOIUrl":"https://doi.org/10.3390/diseases13040108","url":null,"abstract":"<p><p>There was an error in the original publication [...].</p>","PeriodicalId":72832,"journal":{"name":"Diseases (Basel, Switzerland)","volume":"13 4","pages":""},"PeriodicalIF":2.9,"publicationDate":"2025-04-03","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12025739/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144063341","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":"Surgery Versus Chemoradiation Therapy for Oropharyngeal Squamous Cell Carcinoma: A Multidimensional Cross-Sectional Study.","authors":"Giuseppe Riva, Dario Gamba, Simone Moglio, Giuseppe Carlo Iorio, Chiara Cavallin, Umberto Ricardi, Mario Airoldi, Andrea Canale, Andrea Albera, Giancarlo Pecorari","doi":"10.3390/diseases13040106","DOIUrl":"https://doi.org/10.3390/diseases13040106","url":null,"abstract":"<p><strong>Background/objectives: </strong>The management of oropharyngeal squamous cell carcinoma (OPSCC) often involves multidisciplinary decision-making to optimize patient outcomes. Surgery and chemoradiation therapy (CRT) represent the two main treatment modalities. The aim of this cross-sectional study was to provide a comprehensive analysis of quality of life, speech, swallowing, sleep, psychological distress, and nutritional status in OPSCC patients treated with either surgery or CRT.</p><p><strong>Methods: </strong>Thirty subjects were divided into two groups based on treatment modality (>12-month follow-up): (A) surgery ± adjuvant treatment (15 patients); (B) exclusive CRT (15 patients). A multidimensional evaluation was performed by means of validated questionnaires. The following parameters were analyzed: quality of life, speech, swallowing, sleep quality, risk of sleep apnea, sleepiness, psychological distress, pain, and nutritional status.</p><p><strong>Results: </strong>No statistically significant difference was found between the two study groups for every parameter. The EORTC QLQ-C30 globally showed a good quality of life in both groups. Poor sleep quality was observed in 9 (60%) subjects in group A and in 6 (40%) patients in group B, respectively. Low, intermediate and high risk of malnutrition was observed in 73.3%, 20.0% and 6.7% of cases in group A, and in 93.3%, 6.7% and 0.0% in group B, respectively.</p><p><strong>Conclusions: </strong>Surgery and exclusive chemoradiotherapy appear to yield similar long-term outcomes across all evaluated dimensions, including quality of life, speech, swallowing, sleep, psychological distress, and nutritional status.</p>","PeriodicalId":72832,"journal":{"name":"Diseases (Basel, Switzerland)","volume":"13 4","pages":""},"PeriodicalIF":2.9,"publicationDate":"2025-04-02","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12025535/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144059149","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":"Relationships of Isolated Nocturnal Hypertension with Glomerular Filtration Rate and Albuminuria.","authors":"Caterina Carollo, Giulio Geraci, Alessandra Sorce, Raffaella Morreale Bubella, Emanuele Cirafici, Maria Elena Ciuppa, Salvatore Evola, Giuseppe Mulè","doi":"10.3390/diseases13040107","DOIUrl":"https://doi.org/10.3390/diseases13040107","url":null,"abstract":"<p><strong>Background/objectives: </strong>Isolated nocturnal hypertension (INH) represents a unique phenotype that can only be identified through ambulatory blood pressure monitoring (ABPM). An increasing body of evidence suggests a significant association between INH and heightened cardiovascular morbidity, mortality, and, more recently, kidney disease progression. Considering these findings, this study aims to retrospectively assess the prevalence of INH and its relationship with glomerular filtration rate (GFR) and albumin excretion rate (AER) in a large cohort of hypertensive patients.</p><p><strong>Methods: </strong>A total of 1340 subjects selected from the patients of our European Hypertension Excellence Centre of the University of Palermo were enrolled. Biochemical tests, urinalysis, 24 h ambulatory blood pressure monitoring, and collection of anamnestic and anthropometric data were performed on each patient.</p><p><strong>Results: </strong>In our cohort, the prevalence of INH was 11%. Logistic regression analyses revealed that male sex, AER, and eGFR were significantly associated with the INH phenotype. AER ≥ 5.8 µg/min predicted the presence of INH with 73.7% sensitivity and 58.4% specificity. An eGFR < 60 mL/min/1.73 m² was also correlated with INH, although its predictive value was less prominent. Multivariable regression models confirmed that AER and eGFR, along with male sex, were independent predictors of INH. In patients with normal blood pressure, AER and metabolic syndrome were also associated with INH. CKD (AER < 30 mg/day and eGFR < 60 mL/min/1.73 m²) was significantly linked to INH.</p><p><strong>Conclusions: </strong>Our research confirms the direct relationship between AER and INH and the inverse relationship between GFR and INH, thus underlining the leading role of renal function in the onset of INH, as widely observed in the literature. The confirmed association between renal markers and INH in the subgroup of subjects with a clinically normal blood pressure could help us to identify the subjects who should undergo ABPM.</p>","PeriodicalId":72832,"journal":{"name":"Diseases (Basel, Switzerland)","volume":"13 4","pages":""},"PeriodicalIF":2.9,"publicationDate":"2025-04-02","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12025410/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144060398","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":"Prevalence of Depressive Disorders in Operatively Treated Pelvic Trauma Patients.","authors":"Piotr Walus, Jakub Ohla, Rafał Wójcicki, Tomasz Pielak, Jakub Bulski, Michał Wesołowski, Gazi Huri, Jan Zabrzyński","doi":"10.3390/diseases13040105","DOIUrl":"https://doi.org/10.3390/diseases13040105","url":null,"abstract":"<p><strong>Aim: </strong>The aim of this study is to assess the prevalence of depressive disorders in patients with pelvic fractures treated surgically at our center in the years 2017-2022.</p><p><strong>Materials and methods: </strong>The study included 75 patients, 57 men and 18 women, operated on in our center in the years 2017-2022 due to acetabular fracture and pelvic ring injury. Factors such as age, gender, chronic pain measured with the VAS scale, and the incidence of suicidal thoughts were also analyzed. The participants completed the Beck Depression Inventory (BDI).</p><p><strong>Results: </strong>Thirty-five out of the seventy-five patients showed symptoms of depression (BDI score > 11), which is 47%, with an average score of 29 (<i>p</i> < 0.0001). Women obtained an average BDI score of 23, which corresponds to moderate depression on Beck's scale (<i>p</i> < 0.008). The correlation between BDI score and chronic pain in pelvic trauma patients has been found to be positive (<i>p</i> < 0.0003; r = 0.4094). Furthermore, women in our studied population reported suicidal thoughts more often than men (44% vs. 14%; <i>p</i> < 0.01). No statistically significant correlation was found between the occurrence of depression and the length of hospital stay and the patient's age (<i>p</i> < 0.5 and <i>p</i> < 0.06, respectively).</p><p><strong>Conclusions: </strong>The prevalence of depression in the pelvic trauma patients of the studied population has been determined to be 47%.</p>","PeriodicalId":72832,"journal":{"name":"Diseases (Basel, Switzerland)","volume":"13 4","pages":""},"PeriodicalIF":2.9,"publicationDate":"2025-03-31","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12026098/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144042740","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":"A Pilot Study on the Analysis of Circulating miRNA Upregulation in Laryngeal Cancer.","authors":"Crina Oana Pintea, Marius Pricop, Edward Seclaman, Nicolae Constantin Balica, Kristine Guran, Delia Ioana Horhat, Cristian Ion Mot","doi":"10.3390/diseases13040101","DOIUrl":"https://doi.org/10.3390/diseases13040101","url":null,"abstract":"<p><strong>Background and objectives: </strong>Laryngeal cancer poses a significant clinical challenge, with late-stage diagnosis contributing to high morbidity and mortality. Circulating microRNAs (miRNAs) represent promising, minimally invasive biomarkers for earlier detection and improved therapeutic monitoring. This pilot study focused exclusively on miRNAs found to be upregulated in laryngeal carcinoma patients, aiming to elucidate their diagnostic and prognostic relevance.</p><p><strong>Methods: </strong>A total of 50 participants meeting standardized inclusion criteria were recruited from the ENT Clinic in Timișoara. Of these, 30 patients provided paired blood samples before and after treatment (surgical or non-surgical). Samples were pooled into three preoperative groups (P1, P2, P3) and three corresponding postoperative groups (C1, C2, C3). miRNAs were extracted from plasma and exosomes, and relative expression was measured by qPCR (Qiagen platform). Statistical analyses included Mann-Whitney U tests, receiver operating characteristic (ROC) curves, and logistic regression.</p><p><strong>Results: </strong>Seven miRNAs consistently exhibited significant upregulation preoperatively. Notably, hsa-miR-424-5p displayed a mean fold change of 4.59 (<i>p</i> = 0.0091) relative to postoperative samples, while hsa-miR-186-5p increased by 2.19-fold (<i>p</i> = 0.0030). hsa-miR-15b-5p also showed a substantial preoperative upregulation of 1.77-fold (<i>p</i> = 0.0057). In ROC analyses, hsa-miR-424-5p yielded an area under the curve (AUC) of 0.82 (95% CI 0.70-0.94), with 78% sensitivity and 80% specificity in distinguishing preoperative from postoperative status. Logistic regression indicated that elevated levels of hsa-miR-424-5p (OR = 1.56, 95% CI 1.10-2.20) and hsa-miR-186-5p (OR = 1.32, 95% CI 1.02-1.68) significantly predicted the preoperative disease state.</p><p><strong>Conclusions: </strong>These data underscore the potential of upregulated circulating miRNAs to serve as biomarkers for active laryngeal cancer and to monitor treatment response. Although preliminary, the findings encourage further research with larger cohorts and additional endpoints. With thorough validation, upregulated miRNAs could be integrated into clinical workflows, enhancing diagnostic precision, risk stratification, and postoperative surveillance in laryngeal cancer.</p>","PeriodicalId":72832,"journal":{"name":"Diseases (Basel, Switzerland)","volume":"13 4","pages":""},"PeriodicalIF":2.9,"publicationDate":"2025-03-30","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12025714/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144059783","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":"Study of Adult and Pediatric Spanish Patients with Cryptogenic Splenomegaly and Splenectomy.","authors":"Marta Morado Arias, Jesús Villarrubia Espinosa, Isidro Vitoria Miñana, Enrique Calderón Sandubete, Víctor Quintero, Miguel Ángel Torralba-Cabeza","doi":"10.3390/diseases13040102","DOIUrl":"https://doi.org/10.3390/diseases13040102","url":null,"abstract":"<p><strong>Introduction: </strong>The differential diagnosis of splenomegaly is a complex process that encompasses a wide variety of diseases. Moreover, it is not always standardized and lacks a definitive consensus on which tests should be performed and in what order. Gaucher disease (GD) and acid sphingomyelinase deficiency (ASMD) are lysosomal diseases (LD) that present with splenomegaly, the diagnosis of which requires a high index of suspicion and specific biochemical and genetic techniques. The aim of the project for the education and diagnosis of Gaucher disease and acid sphingomyelinase deficiency (PREDIGA) was to conduct educational training alongside an observational, multicenter, ambispective, cross-sectional, single-cohort study among patients having an enlarged spleen or undergone splenectomy to further assess these subjects to exclude two lysosomal diseases, namely GD and ASMD.</p><p><strong>Methods: </strong>Using dried blood spot (DBS) testing, we identified patients with abnormally low values of the enzymes glucocerebrosidase and acid sphingomyelinase, who then underwent sequencing of the GBA1 and SPMD1 genes, respectively. The study involved 34 hospitals and 52 medical specialists.</p><p><strong>Results: </strong>We identified 220 patients (208 adults and 12 children under 18 years) with cryptogenic splenomegaly or who had undergone splenectomy (12 patients) without having reached a diagnosis. The median age was 11 years (interquartile range [IQR] 3-16) in the pediatric population and 51 years (IQR 38-65) in the adult population. Lower-than-normal enzyme values were detected in 19 DBSs, confirming eight positive cases, which corresponded to six patients with GD and two with ASMD. The rest of the DBSs with low enzyme activity were not genetically confirmed (58%). We determined that lysosomal diseases accounted for 3.6% of cryptogenic splenomegaly/splenectomy cases in our setting: 2.7% were GD and 0.9% ASMD, in a ratio of 1 ASMD patient to every 3 GD patients. Lyso-GL1 values in patients with GD were elevated in all but one individual, corresponding to a child diagnosed at 4 months old. The variants detected in the GBA1 gene were consistent with the most frequent variants found in Spain.</p><p><strong>Discussion/conclusion: </strong>The development and implementation of this protocol for the education and diagnosis of cryptogenic splenomegaly/splenectomy, even in asymptomatic patients, constitutes a comprehensive, simple, rapid, and effective screening method for the diagnosis of GD and ASMD.</p>","PeriodicalId":72832,"journal":{"name":"Diseases (Basel, Switzerland)","volume":"13 4","pages":""},"PeriodicalIF":2.9,"publicationDate":"2025-03-30","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12025833/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144043138","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}