Clinics and Practice最新文献

{"title":"Accessory Navicular on MRI in an Adult Ankle MRI Referral Cohort (<i>N</i> = 1988): Prevalence, Subtypes, and Edema Correlates.","authors":"Zülküf Akdemir, Amed Çekdar Altındağ, Rıdvan Çeçen, Harun Arslan","doi":"10.3390/clinpract16070123","DOIUrl":"10.3390/clinpract16070123","url":null,"abstract":"<p><p><b>Purpose:</b> To determine the prevalence and subtype distribution of accessory navicular (AN) on adult ankle MRI and to evaluate MRI factors associated with AN-related bone marrow edema (BME); bilaterality was explored in patients with available contralateral MRI data. <b>Methods:</b> In this retrospective cross-sectional study, consecutive adult patients (≥18 years) who underwent ankle MRI between January 2022 and January 2025 at a single institution in Van, eastern Türkiye, were identified from the institutional archive. Two blinded readers assessed AN presence, classified subtypes using Coughlin criteria, measured maximal ossicle dimension for types 1-2, and recorded BME on fluid-sensitive sequences. Prevalence with 95% CIs was estimated, and multivariable logistic regression assessed factors associated with BME in patients with types 1-2. <b>Results:</b> Among 1988 unique patients (mean age: 42.2 ± 14.2 years; 42.6% male and 57.4% female), AN prevalence was 24.4% (95% CI: 22.6-26.4%), and type 2 predominated (50.2%). In the subgroup of AN-positive patients with available contralateral MRI data, AN was bilateral in 61 of 69 patients (88.4%). Interobserver agreement was excellent for AN detection and subtype classification (κ = 1.00 and κ = 0.98). Among types 1-2 included in the BME analysis (<i>n</i> = 385), BME occurred in 81 patients (21.0%). In the multivariable model, the adjusted ORs for BME were 4.46 for type 2 morphology, 1.24 per 1 mm increase in maximal dimension, 2.08 for female sex, and 0.71 per 10-year increase in age; concomitant os trigonum was not associated with BME. <b>Conclusions:</b> AN was common on ankle MRI, and type 2 was most strongly associated with BME; however, because this was a retrospective, cross-sectional, symptom-blinded study, causality and clinical correlation could not be established. <b>Clinical Significance:</b> Type 2 AN, particularly with a larger ossicle dimension, should prompt careful evaluation for MRI-detected BME, which should be interpreted as an imaging finding requiring clinical correlation.</p>","PeriodicalId":45306,"journal":{"name":"Clinics and Practice","volume":"16 7","pages":""},"PeriodicalIF":2.8,"publicationDate":"2026-07-02","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC13409606/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"148593847","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":"Exploratory Associations of Personality Traits, Cognitive Emotion Regulation, and Quality of Life with DSM-Related Symptom Burden in Gambling Disorder.","authors":"Ioana Ioniță, Mădălina Iuliana Mușat, Bogdan Cătălin, Dan Adrian Lutescu, Constantin Alexandru Ciobanu, Adela Magdalena Ciobanu","doi":"10.3390/clinpract16070122","DOIUrl":"10.3390/clinpract16070122","url":null,"abstract":"<p><p><b>Background and Objectives:</b> Gambling disorder (GD) is a behavioral addiction associated with distress, comorbidity, and functional impairment. This exploratory cross-sectional study examined associations between DSM-5-TR symptom burden, personality dimensions, cognitive emotion regulation, quality of life, and sociodemographic variables in a Romanian clinical sample. <b>Materials and Methods:</b> The sample included 122 adults with psychiatrist-confirmed pathological gambling/GD recruited from \"Prof. Dr. Alexandru Obregia\" Clinical Hospital of Psychiatry, Bucharest. Personality was assessed with the Personality Clinical Form (PCF; 109 valid profiles), cognitive emotion regulation with the Cognitive Emotion Regulation Questionnaire, and quality of life with the Quality of Life Inventory. Symptom burden was measured using a nine-item binary DSM-5 symptom burden index. <b>Results:</b> The symptom burden index showed a pronounced ceiling effect: median = 9.00 (IQR = 9.00-9.00; range = 4-9), with 91.0% classified as severe and 77.9% meeting all nine criteria. In PCF analyses, symptom burden was positively associated, after Benjamini-Hochberg correction, with broad personality pathology, including maladaptive personality dimensions, personality-functioning indicators, and personality-disorder feature scales; the strongest association involved borderline features. Catastrophizing and Blaming Others were positively associated with severity, whereas Positive Reappraisal, Putting into Perspective, and Positive Refocusing were negatively associated. Quality of life was very low overall and associated with personality and coping variables, but not directly with symptom burden. Criterion-count rank distributions differed by marital status and perceived social support; occupational status showed an omnibus distributional difference, but no pairwise contrast survived correction. <b>Conclusions:</b> GD was characterized by severe symptom burden and restricted score variability. Findings support multidimensional assessment of personality functioning, emotion regulation, quality of life, and social-contextual vulnerability.</p>","PeriodicalId":45306,"journal":{"name":"Clinics and Practice","volume":"16 7","pages":""},"PeriodicalIF":2.8,"publicationDate":"2026-06-29","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC13407655/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"148593881","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":"Acute Aortic Syndrome: From Risk Factors to Hospital Burden and Healthcare Resource Utilization.","authors":"Cosmin Marian Banceu, Diana Mariana Banceu, Marius Mihai Harpa, Daiana Cristutiu, Mihai Calinescu, Horatiu Suciu","doi":"10.3390/clinpract16070121","DOIUrl":"10.3390/clinpract16070121","url":null,"abstract":"<p><p>Acute aortic syndrome (AAS) comprises acute aortic dissection, intramural haematoma, penetrating atherosclerotic ulcer, and limited intimal tear, conditions that require rapid recognition because mortality and resource use are strongly influenced by time to diagnosis, anatomical extent, malperfusion, and the need for emergency surgical or endovascular intervention. This revised narrative review synthesizes contemporary evidence on clinical, genetic, environmental, and health-system determinants of prolonged hospitalisation, intensive care unit (ICU) utilisation, bed occupancy, and costs in patients with AAS. Beyond summarising established risk factors, the review adds a resource-oriented framework that links hypertension, advanced age, female sex, smoking-related comorbidity, hereditary aortopathies, haemodynamic instability, malperfusion, delayed diagnosis, operative complexity, and postoperative complications to measurable downstream outcomes such as ICU length of stay, total hospital length of stay, reoperation, readmission, and longitudinal imaging surveillance. We searched PubMed/MEDLINE, Scopus, Web of Science, and Google Scholar for relevant studies, registries, guideline documents, and cost analyses published between January 2000 and May 2026, with particular emphasis on studies from the last five years. The review was not designed as a meta-analysis; therefore, effect estimates are interpreted according to study design and generalisability. AAS imposes a disproportionate burden on hospital systems because high-risk patients often require advanced imaging, prolonged haemodynamic monitoring, complex open or endovascular repair, ICU care, and lifelong follow-up. Earlier diagnosis, structured risk stratification, targeted genetic evaluation, aggressive control of modifiable risk factors, and system-level pathways such as dedicated aortic networks may shorten hospital stay and reduce avoidable costs.</p>","PeriodicalId":45306,"journal":{"name":"Clinics and Practice","volume":"16 7","pages":""},"PeriodicalIF":2.8,"publicationDate":"2026-06-27","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC13409699/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"148593852","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":"Prevention of Gastrointestinal Bleeding in Patients Receiving Direct Oral Anticoagulants: A Narrative Review and Practical Framework for Prescribers.","authors":"Nicoleta Dubei, Larisa Anghel, Laura-Cătălina Benchea, Radu Andy Sascău, Cristina Prisacariu, Mircea Ovanez Balasanian, Bogdan-Sorin Tudurachi, Bianca-Ștefania Profire, Cristian Stătescu","doi":"10.3390/clinpract16070120","DOIUrl":"10.3390/clinpract16070120","url":null,"abstract":"<p><p><b>Background/Objectives</b>: As population aging increases the prevalence of atrial fibrillation (AF), the use of direct oral anticoagulants (DOACs) has expanded for thromboembolism prevention. Although DOACs offer advantages over vitamin K antagonists (VKAs), gastrointestinal bleeding (GIB) remains the most common extracranial adverse event. Current guidelines address global bleeding risk but provide limited guidance on site-specific gastrointestinal risk assessment and prevention. This narrative review aims to summarize current evidence on the mechanisms, etiologies, and risk factors for DOAC-associated gastrointestinal bleeding and to propose a pragmatic, risk-based framework to support clinicians in individualized bleeding prevention. <b>Methods</b>: A narrative review of studies published between 2004 and 2025 was conducted, including randomized clinical trials, real-world evidence, meta-analyses, and major society guidelines. Evidence addressing DOAC safety profiles, gastrointestinal bleeding etiologies, patient-level risk factors, medication interactions, and preventive strategies was analyzed. <b>Results</b>: Gastrointestinal bleeding in patients treated with DOAC is strongly influenced by underlying gastrointestinal pathology, comorbid conditions, and concomitant medications. Established risk factors include prior gastrointestinal hemorrhage, <i>Helicobacter pylori</i> infection, gastrointestinal malignancy, diverticulosis, and angiodysplasia, as well as the use of nonsteroidal anti-inflammatory drugs (NSAIDs), antiplatelet therapy, or selective serotonin reuptake inhibitors (SSRIs). DOACs differ in gastrointestinal safety: apixaban consistently demonstrates the most favorable profile, whereas rivaroxaban and high-dose dabigatran show higher GIB rates. Preventive strategies such as <i>H. pylori</i> testing and eradication, proton pump inhibitor use in high-risk individuals, avoidance of NSAIDs and unnecessary antiplatelet therapy, and individualized DOAC selection may help reduce bleeding risk. <b>Conclusions</b>: Gastrointestinal bleeding risk in patients receiving DOAC therapy should be assessed using a site-specific and dynamic approach. A structured strategy integrating baseline risk evaluation, correction of modifiable factors, tailored anticoagulant selection, and risk-adapted follow-up may improve the safety of anticoagulation. The proposed framework may provide a pragmatic approach to individualized bleeding risk mitigation while preserving the benefits of DOAC therapy; however, prospective validation is required before its routine implementation can be recommended.</p>","PeriodicalId":45306,"journal":{"name":"Clinics and Practice","volume":"16 7","pages":""},"PeriodicalIF":2.8,"publicationDate":"2026-06-26","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC13407246/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"148593633","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":"Effectiveness of Guselkumab for the Treatment of Moderate-to- Severe Psoriasis in Elderly Patients: A Retrospective, Real-World Multicenter Study in the Lazio Region.","authors":"Giuseppe P A Gemma, Nicoletta Bernardini, Francesca Paola Sasso, Giacomo Caldarola, Eleonora De Luca, Maria Elisabetta Greco, Viviana Lora, Annamaria Mazzotta, Emanuele Miraglia, Diego Orsini, Gianluca Pagnanelli, Antonio Giovanni Richetta, Nevena Skroza, Annunziata Dattola","doi":"10.3390/clinpract16070119","DOIUrl":"10.3390/clinpract16070119","url":null,"abstract":"<p><strong>Background: </strong>Guselkumab, a selective interleukin-23 inhibitor, is effective in moderate-to-severe plaque psoriasis, but real-world long-term data in elderly patients remain limited.</p><p><strong>Objective: </strong>To evaluate the long-term effectiveness of guselkumab in elderly patients with moderate-to-severe psoriasis in a real-world setting.</p><p><strong>Methods: </strong>This retrospective, multicenter study included 102 patients aged 65 years or older treated with guselkumab across seven Italian centers. PASI scores and PASI 75/90/100 responses were assessed as observed cases at weeks 4, 16, 28, and 52, and annually up to 4 years, with last-observation-carried-forward and non-responder imputation as sensitivity analyses. Subgroups by biologic experience and BMI were analyzed.</p><p><strong>Results: </strong>Mean PASI decreased from 12.4 to 0.3 at week 52, remaining low through year 4 (<i>p</i> < 0.001). At week 52 and year 4, PASI 90 was achieved by 89.7% and 86.5%, and PASI 100 by 79.3% and 73.0%, respectively. Responses were comparable between biologic-naïve and biologic-experienced patients. Obese patients had higher baseline PASI; after adjustment for baseline severity, responses did not differ from non-obese patients.</p><p><strong>Conclusions: </strong>Guselkumab was associated with high and durable PASI improvement in elderly patients, regardless of prior biologic exposure or body weight. The retrospective design and absence of systematic safety data warrant cautious interpretation.</p>","PeriodicalId":45306,"journal":{"name":"Clinics and Practice","volume":"16 7","pages":""},"PeriodicalIF":2.8,"publicationDate":"2026-06-26","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC13409236/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"148593917","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":"Bilateral Iris Metastasis of Small Cell Lung Carcinoma: A Case Report and Systematic Review.","authors":"Stipe Vidović, Egon Biuk, Greta Biuk, Marija Jelić Vuković, Maja Vinković, Andrijana Kopić, Dubravka Biuk","doi":"10.3390/clinpract16070118","DOIUrl":"10.3390/clinpract16070118","url":null,"abstract":"<p><p><b>Objective:</b> To report a rare case of bilateral iris metastasis from small cell lung carcinoma (SCLC) and systematically review the literature on SCLC-associated iris metastases, with emphasis on clinical presentation, management, and outcomes. <b>Materials and Methods:</b> A systematic literature review was conducted in accordance with the Preferred Reporting Items for Systematic Reviews and Meta-Analyses (PRISMA) guidelines. PubMed, ScienceDirect, Scopus, and Web of Science were comprehensively searched on 10 July 2025. Eligible studies included English-language reports of iris metastasis originating from SCLC in human subjects. <b>Case report:</b> A 58-year-old woman with previously treated SCLC developed bilateral iris metastases one year after complete remission of the primary tumor. Ophthalmic examination revealed whitish-gray, vascularized iris masses with iridocorneal angle involvement, associated with secondary angle-closure glaucoma and markedly elevated intraocular pressure (48 mm Hg) in the left eye. Cyclocryotherapy, preceded by systemic and topical antiglaucoma therapy, resulted in pain relief and a reduction in intraocular pressure; the patient died four months later due to pneumonia. <b>Results (Systematic Review):</b> Seventeen studies comprising 17 patients were included; the median age was 60 years, and 64.7% were male. The median interval from SCLC diagnosis to ocular presentation was 4 months, although iris metastasis was occasionally the initial or concurrent manifestation of disease. The most common presenting features were visual impairment (58.8%), ocular pain (41.2%), and elevated intraocular pressure (41.2%), while iris neovascularization (35.3%) and synechiae (29.4%) were also frequent. Bilateral involvement was reported in only one previous case. Treatment approaches were heterogeneous and included antiglaucoma therapy, systemic chemotherapy, local radiotherapy, anti-VEGF therapy, and enucleation. Among patients with available follow-up (n = 12), 58.3% died within a median follow-up of 7.5 months. <b>Conclusions:</b> Bilateral iris metastasis from SCLC is rare and may occur as a manifestation of recurrent disease after remission. It is an aggressive condition characterized by nonspecific ocular symptoms, variable management, and poor survival, underscoring the importance of early recognition and the need for evidence-based diagnostic and therapeutic strategies.</p>","PeriodicalId":45306,"journal":{"name":"Clinics and Practice","volume":"16 7","pages":""},"PeriodicalIF":2.8,"publicationDate":"2026-06-23","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC13407523/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"148593894","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":"Vasa Vasorum-A Silent Enemy After EVAR: A Case Report and Review of the Literature.","authors":"Ilias Prentzas, Vasileios Leivaditis, Chrysa Andrikopoulou, Konstantinos Nikolakopoulos, Chrysanthi Papageorgopoulou, Kate Tabaku, Melina Stathopoulou, Zafeiria Papathanassiou, Polyzois Tsantrizos, Francesk Mulita, Konstantinos Katsanos, Spyros Papadoulas","doi":"10.3390/clinpract16060117","DOIUrl":"10.3390/clinpract16060117","url":null,"abstract":"<p><p><b>Background/Objectives:</b> Type II endoleaks (T2ELs) remain one of the most frequent causes of aneurysm sac enlargement following endovascular abdominal aortic aneurysm repair (EVAR). While embolization may be effective in typical T2ELs with a clearly identifiable feeding vessel, management becomes more challenging when no visible communication with a side branch can be demonstrated. Emerging evidence suggests that hypertrophic vasa vasorum may contribute to aneurysm sac expansion in these atypical cases. We present a case of refractory atypical T2EL treated by open conversion and discuss the potential role of the vasa vasorum network in its pathophysiology. <b>Case Presentation:</b> A 77-year-old man presented with lumbar pain ten years after EVAR for a symptomatic abdominal aortic aneurysm. Computed tomography angiography demonstrated progressive aneurysm sac enlargement to 8.5 cm despite three previous translumbar embolization procedures. Multiple areas of contrast pooling were identified within the aneurysm sac, but no clear communication with a feeding side branch was observed. Owing to persistent sac expansion and symptoms, open conversion was performed with partial endograft explantation and reconstruction using a bifurcated PTFE graft. <b>Results:</b> After opening the aneurysm sac and evacuating the thrombus, diffuse bleeding was observed from numerous small vascular orifices distributed throughout the inner sac surface. These findings were considered consistent with a prominent vasa vasorum network. Hemostasis was achieved using a combination of figure-of-eight sutures and electrocautery. The postoperative course was uneventful, and the patient was discharged on postoperative day five. Follow-up imaging demonstrated normal graft patency without complications. <b>Conclusions:</b> This case supports the hypothesis that an extensive vasa vasorum network may contribute to aneurysm sac expansion in atypical T2ELs and possibly endotension after EVAR. In patients with refractory sac enlargement, open conversion remains a definitive treatment option. Further research is needed to clarify the underlying mechanisms and to explore targeted therapeutic strategies aimed at modulating angiogenesis and vascular remodeling.</p>","PeriodicalId":45306,"journal":{"name":"Clinics and Practice","volume":"16 6","pages":""},"PeriodicalIF":2.8,"publicationDate":"2026-06-18","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC13298164/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"148319896","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":"Post-Levothyroxine Thyroid Dysfunction in Saudi Arabian Patients with Hypothyroidism: A Cross-Sectional Study.","authors":"Baraah Ghssan AlHassan, Maujid Masood Malik, Ahmed Mohamedain, Adnan Jehangir, Farhana Ayub, Omer Musa, Ahmed Ibrahim, Habib Ahmad Qureshi, Hayder A Giha","doi":"10.3390/clinpract16060116","DOIUrl":"10.3390/clinpract16060116","url":null,"abstract":"<p><strong>Background: </strong>Post-thyroxine treatment of thyroid dysfunction remains a clinical concern, especially in Middle Eastern populations.</p><p><strong>Methods: </strong>This descriptive cross-sectional study was conducted in 2023 at King Fahad Hospital, Hufof, Kingdom of Saudi Arabia. Of the 237 patients treated with L-thyroxine (L-T4) for hypothyroidism, 163 patients, almost exclusively females (152 females, 11 males), met the inclusion criteria and were enrolled. Thyroid hormones, lipid profiles, and 25-hydroxyvitamin D (25OH-D) were measured using standard laboratory assays.</p><p><strong>Results: </strong>Only 57% of patients achieved euthyroid status following L-T4 treatment, while 12.3% developed post-thyroxine-treatment (PTT) hyperthyroidism, and 30.7% developed PTT hypothyroidism. Older age was significantly associated with dysthyroidism (<i>p</i> = 0.018), whereas obesity (<i>p</i> = 0.937) and vitamin D levels (<i>p</i> = 0.982) were not. Total cholesterol (TC) and LDLc positively correlated with TSH levels, while elevated triglycerides (TGs) were significantly associated with PTT hyperthyroidism. The two dysthyroid subgroups were comparable across all non-thyroid parameters, including age, BMI, 25(OH)D levels, and lipid fractions. However, free T4 was significantly higher in PTT hyperthyroidism (<i>p</i> < 0.001); free T3 showed a trend toward higher levels in PTT hyperthyroidism (<i>p</i> = 0.052); and TSH was significantly higher in PTT hypothyroidism (<i>p</i> < 0.001).</p><p><strong>Conclusions: </strong>The proportions of patients with PTT hypo- and hyperthyroidism are aligned with international observations. Furthermore, the age was significantly associated with dysthyroidism, and dyslipidemia is the most consistent biochemical correlate of suboptimal thyroid status; however, the associations of PTT dysthyroidism with hypovitaminosis D and BMI were not noticed in this setting.</p>","PeriodicalId":45306,"journal":{"name":"Clinics and Practice","volume":"16 6","pages":""},"PeriodicalIF":2.8,"publicationDate":"2026-06-17","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC13298025/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"148319678","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":"Pycnodysostosis: Report of Two Novel CTSK Variants in a Child.","authors":"Daniela Trotta, Rossella Ferrante, Michele Sallese, Marianna Viele, Claudia Rossi, Vincenzo Scorrano, Sara Savelli, Milena Catenaro, Vincenzo De Laurenzi, Maurizio Aricò","doi":"10.3390/clinpract16060115","DOIUrl":"10.3390/clinpract16060115","url":null,"abstract":"<p><p><b>Background:</b> Pycnodysostosis is a rare autosomal recessive skeletal disorder caused by biallelic pathogenic variants in <i>CTSK</i>, which encodes cathepsin K, a lysosomal cysteine protease required for osteoclast-mediated degradation of bone matrix. <b>Case Report:</b> We describe a girl with short stature, skeletal deformities, osteosclerosis, craniofacial features, clavicular dysplasia, and radiological evidence of fractures. Clinical exome sequencing identified two heterozygous <i>CTSK</i> variants, c.85T > C (p.Trp29Arg) and c.679A>T (p.Ile227Phe), both currently classified as variants of uncertain significance. Segregation analysis showed that the variants were inherited in trans. Computational modeling and in silico prediction tools supported a possible deleterious effect on cathepsin K structure or function. Serum cathepsin K was higher in the patient than in two age-matched controls; this result is reported as an exploratory observation only. Increased serum cathepsin K may reflect altered expression, secretion, clearance, or accumulation of dysfunctional protein, but cannot be interpreted as proof of compensatory upregulation. <b>Conclusions:</b> The patient's clinical and radiographic features, the biallelic trans configuration of the <i>CTSK</i> variants, their rarity in population databases, and computational predictions support p.Trp29Arg and p.Ile227Phe as strong candidate disease-associated variants. Functional studies are required to confirm their effect on cathepsin K expression, maturation, and enzymatic activity.</p>","PeriodicalId":45306,"journal":{"name":"Clinics and Practice","volume":"16 6","pages":""},"PeriodicalIF":2.8,"publicationDate":"2026-06-16","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC13298592/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"148319924","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":"Trends in Comorbidity for Patients with Venous Thromboembolism in a General Hospital: 2018 to 2022.","authors":"Luisa Jiménez Reyes, José Javier Jareño Esteban, Lara Almudena Fernández Bermejo, Carlos Gutiérrez Ortega, Javier de Miguel-Díez","doi":"10.3390/clinpract16060113","DOIUrl":"10.3390/clinpract16060113","url":null,"abstract":"<p><p><b>Background/Objectives</b>: Recent trends show a rising incidence of venous thromboembolism (VTE) that does not correlate with increased mortality; however, population aging and the proliferation of comorbidities are fundamentally reshaping the VTE patient landscape. The aim of this study is to evaluate potential differences in clinical characteristics, comorbidities, and survival rates between patients diagnosed with pulmonary embolism (PE) during the pre-pandemic period (2018-2019) and those diagnosed during the pandemic era (2020-2022). Additionally, as a secondary objective, we analyze the clinical profiles, risk factors, and survival outcomes of patients with and without COVID-19 infection during the 2020-2022 period. <b>Methods</b>: A retrospective observational study was conducted to analyze survival and comorbidities in patients admitted for PE at the Hospital Central de la Defensa 'Gómez Ulla' between 2018 and 2022, comparing two periods (2018-2019 and 2020-2022). In addition, a sub-analysis was performed within the second period group comparing patients with and without COVID-19. <b>Results</b>: It was observed that the majority of patients in the first period were men, while in the second period, 55% were women. With regard to comorbidity and risk factors, thrombophilia and dementia were more prevalent in the first period, while asthma was more prevalent in the second period. No differences were found with regard to mortality. <b>Conclusions:</b> Significant differences were observed between the two periods of the study with regard to some comorbidities. Patients with COVID-19 showed a greater tendency toward immobilization and a higher prescription of thromboprophylaxis during hospitalization.</p>","PeriodicalId":45306,"journal":{"name":"Clinics and Practice","volume":"16 6","pages":""},"PeriodicalIF":2.8,"publicationDate":"2026-06-15","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC13297767/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"148319910","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}