Reports (MDPI)最新文献

{"title":"Preliminary Report on Temperature Dysregulation in a Cohort of Youth with Prader-Willi Syndrome.","authors":"Daniela A Rubin, Adam Elies, Claudia Camerino","doi":"10.3390/reports8030168","DOIUrl":"10.3390/reports8030168","url":null,"abstract":"<p><p><b>Background:</b> Prader-Willi Syndrome (PWS) is a genetic neurodevelopmental disorder caused by an alteration of the paternal chromosome 15q11-q13. Youth with PWS present hyperphagia, increased fat/decreased muscle mass, hypotonia, and decreased metabolic rate with risk of obesity. Thermoregulation problems have been previously reported with hypothermia in adults or hyperthermia in children/infants with PWS. <b>Methods:</b> We retrospectively examined a cohort of 44 youths with PWS, 8-16 years old, presenting with a medical history of temperature dysregulation (TD), hypothermia or hyperthermia. Participants with (n = 10) and without (n = 34) a history of TD were compared for anthropometrics, body composition, medical history, and motor characteristics. <b>Results:</b> Youth with TD presented with hypothermia (n = 8), hyperthermia (n = 2), or both conditions (n = 2). Non-parametric statistics showed no significant differences in age, anthropometrics, body composition, or motor characteristics between the groups (<i>p</i> ≥ 0.064). Those with TD presented with a higher frequency of sleep apnea versus those without (50% vs. 18%; <i>p</i> = 0.038). <b>Conclusions:</b> The prevalence of TD in the cohort was one in five youth with PWS, suggesting that the problem is not isolated. The results do not suggest that anthropometrics, body composition, or motor characteristics explain differences in temperature excursions in youths with PWS. Possible physiological mechanisms and future research are discussed.</p>","PeriodicalId":74664,"journal":{"name":"Reports (MDPI)","volume":"8 3","pages":""},"PeriodicalIF":0.8,"publicationDate":"2025-09-02","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12452688/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145115206","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":"Implementation of Customized Homogenizing Devices in Radiotherapy for the Treatment of Non-Melanoma Skin Cancer: Three Case Reports.","authors":"Rosa Marene Hernández Martínez, Juan Carlos Torres Velasco, Alejandro Chagoya González, Carlos Alberto Castro-Fuentes, Kuautzin Alfonso Hernández","doi":"10.3390/reports8030165","DOIUrl":"10.3390/reports8030165","url":null,"abstract":"<p><p><b>Background and Clinical Significance</b>: In most cases, the success of radiotherapy in the treatment for skin cancer is limited, particularly due to the irregularities of the neoplasm's surfaces or even tissue discontinuity. Based on a comprehensive clinical assessment, the therapeutic approach for radiotherapy was established for the patients included in this study. Wax-paraffin (50:50) devices were custom-designed for radiotherapy treatment, confirming adequate homogeneity and conformity indices for doses of 55-66 Gy, and chemotherapy when necessary. Toxicity and treatment response were also assessed; <b>Cases Presentation</b>: For patient 1, two lesions located on the right nasolabial fold and right thigh were treated with radiation, and a 1 cm thick wax-paraffin surface bolus was designed, allowing for improved dose distribution and favorable local response. For patient 2, in addition to the thick wax-paraffin homogenizer, lead eye protectors were designed due to the location of the tumor, with the aim of protecting organs at risk. The treatment in this patient resulted in effective local response. Finally, for patient 3, with a lesion in the supraclavicular region extending to the left shoulder due to acantholytic squamous cell carcinoma with secondary carcinomatous lymphangitis, 1 cm thick wax-paraffin surface homogenizers were used; <b>Conclusions</b>: Due to the characteristics of the customized homogenizers, tumor lesion remission was successfully achieved in all three patients, highlighting both the advantages of these devices and their efficacy in dose distribution and local response in radiotherapy treatment of non-melanoma skin carcinoma.</p>","PeriodicalId":74664,"journal":{"name":"Reports (MDPI)","volume":"8 3","pages":""},"PeriodicalIF":0.8,"publicationDate":"2025-09-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12452499/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145115066","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":"Outcomes of Tiopronin and D-Penicillamine Therapy in Pediatric Cystinuria: A Clinical Comparison of Two Cases.","authors":"Brooke Schaefer, Adinoyi Garba, Xiaoyan Wu","doi":"10.3390/reports8030163","DOIUrl":"10.3390/reports8030163","url":null,"abstract":"<p><p><b>Background and Clinical Significance:</b> Cystinuria is the most common genetic cause of pediatric nephrolithiasis, characterized by impaired renal cystine reabsorption and resulting in increased urinary cystine excretion. Due to the poor solubility of cystine at normal urine pH, increased urinary cystine excretion leads to urine supersaturation and precipitation of cystine, resulting in nephrolithiasis. <b>Case Presentation:</b> Here, we report two cases of female patients diagnosed with cystinuria caused by <i>SLC7A9</i> mutations. Both patients were initially managed with conservative treatments to minimize stone recurrence including increased oral fluid intake, a low-salt/low-protein diet, and potassium citrate supplementation with the goal of reducing urinary cystine levels and minimizing stone recurrences. Due to persistent stone formation, the patients were started on two distinct cystine-binding thiol medications. One patient was initiated on tiopronin, and the other on D-penicillamine. Tiopronin and D-penicillamine are both used in the treatment of pediatric cystinuria, although tiopronin is often preferred due to its more favorable side effect profile. However, due to insurance constraints, D-penicillamine was initiated for one patient in place of tiopronin. Since the initiation of these two distinct cystine-binding thiol medications, both patients have demonstrated reduced urinary cystine excretion and minimal to no recurrence of kidney stones. <b>Conclusions:</b> Cystine-binding thiols, including tiopronin and D-penicillamine, can both be used in the management of cystinuria in pediatric patients.</p>","PeriodicalId":74664,"journal":{"name":"Reports (MDPI)","volume":"8 3","pages":""},"PeriodicalIF":0.8,"publicationDate":"2025-09-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12452493/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145115197","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":"Challenges in the Diagnosis and Management of Triosephosphate Isomerase Deficiency: A Case Report.","authors":"Carolina Ramos, Inês Pereira, Joana Coelho, Patrícia Dias, Patrícia Lipari Pinto, Anabela Ferrão, Rosário Ferreira","doi":"10.3390/reports8030162","DOIUrl":"10.3390/reports8030162","url":null,"abstract":"<p><p><b>Background and Clinical Significance</b>: Triosephosphate isomerase (TPI) deficiency is a rare autosomal recessive metabolic disorder caused by a pathogenic variant in the <i>TPI1</i> gene. It is characterised by chronic haemolytic anaemia, progressive neuromuscular dysfunction, and reduced life expectancy. Patients typically present with symptoms in the first few months of life, including muscle weakness, ataxia, and recurrent respiratory infections. Diagnosis is confirmed by genetic testing, and management is generally symptomatic as no treatment is available. <b>Case Presentation</b>: We describe the case of an infant diagnosed with TPI deficiency in the context of haemolytic anaemia with progressive neurological deterioration and respiratory failure. <b>Conclusions</b>: This case illustrates the complexity of the disease and highlights the importance of early diagnosis and contributes to the limited literature by providing a detailed clinical description and highlighting the diagnostic challenges associated with this condition. Beyond its clinical relevance, this report emphasises the potential role of personalised medicine in the management of TPI deficiency. Early identification of specific genotypes may inform prognosis and guide individualised supportive strategies. As knowledge of the molecular underpinnings of TPI deficiency expands, opportunities may emerge for targeted therapeutic approaches tailored to patient-specific characteristics.</p>","PeriodicalId":74664,"journal":{"name":"Reports (MDPI)","volume":"8 3","pages":""},"PeriodicalIF":0.8,"publicationDate":"2025-09-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12452722/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145115363","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":"Uterine Arteriovenous Malformation Presenting with Amenorrhea-A Rare Case Report and Literature Review.","authors":"Hanna Gruber, Dirk O Bauerschlag, Chie-Hee Cho, Aimée B Herzog, Ibrahim Alkatout, Melanie Schubert","doi":"10.3390/reports8030161","DOIUrl":"10.3390/reports8030161","url":null,"abstract":"<p><p><b>Background and Clinical Significance:</b> Uterine arteriovenous malformation (AVM) is a rare but potentially life-threatening condition due to the risk of severe acute hemorrhage. Unlike AVMs in other anatomical locations, which are predominantly congenital, uterine AVMs are often acquired, typically developing after uterine procedures such as dilatation and curettage (D&C), cesarean section, or pregnancy-related events. Women commonly present with abnormal bleeding disorders. <b>Case Presentation:</b> We are presenting the case of a 41-year-old Caucasian woman with secondary amenorrhea three months after vacuum curettage in the 7th week of pregnancy. Based on her clinical history and the findings on transvaginal sonography (TVS), uterine AVM was highly suspected. Contrast-enhanced magnetic resonance imaging (MRI) confirmed the diagnosis. The patient underwent successful embolization of the left uterine artery. Follow-up examinations demonstrated complete resolution of the vascular malformation, and regular menstrual cycles resumed during her recovery. With the increasing frequency of uterine surgical interventions, the incidence of uterine AVMs is also expected to rise. The clinical impact is significant when fertility preservation and family planning are still ongoing. To the best of our knowledge, this is the first reported case in which amenorrhea is the primary presenting symptom of a uterine AVM. <b>Conclusions:</b> Given the high risk of life-threatening hemorrhage associated with undetected or incorrectly treated AVMs, their presence must always be carefully ruled out in case of bleeding disorders after pregnancy or uterine surgery. Accurate diagnosis prior to any further intrauterine interventions, such as curettage, is crucial to prevent severe complications and ensure appropriate management. In order to avoid life-threatening complications, the possibility of uterine AVM should be considered in the differential diagnosis even in the presence of amenorrhea. The proposed diagnosis and treatment algorithm for uterine AVMs can help avoid misdiagnosis.</p>","PeriodicalId":74664,"journal":{"name":"Reports (MDPI)","volume":"8 3","pages":""},"PeriodicalIF":0.8,"publicationDate":"2025-09-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12452702/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145115347","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":"Adult Pleomorphic Rhabdomyosarcoma: Case Report.","authors":"Beatrice Oancea, Roxana Elena Mirică","doi":"10.3390/reports8030166","DOIUrl":"10.3390/reports8030166","url":null,"abstract":"<p><p><b>Background and Clinical Significance:</b> Rhabdomyosarcoma (RMS) is a rare and aggressive malignant soft-tissue sarcoma (STS) arising from skeletal connective tissues and is most commonly seen in the pediatric population. The pleomorphic subtype is mostly seen in adults in the sixth and seventh decades of life, representing 1% of all histological types of RMS and having a very poor prognosis. <b>Case Presentation:</b> This report presents the case of a 63-year-old male with a medical history of papillary thyroid cancer, who presented with an ulcer-hemorrhagic malignant tumor, namely, a poorly differentiated desmin-positive pleomorphic rhabdomyosarcoma (PRMS), with impressive dimensions located on the posterior thoracic wall. This tumor was surgically removed via a wide resection, followed by palliative chemotherapy and radiotherapy. However, the patient relapsed locally, with pulmonary, bone, and lymph node metastases. The peculiarity of this case is represented by the rapid growth, aggressive nature, and high metastatic potential of the adult RMS, as well as its poor response to treatment. <b>Conclusions:</b> The presented case underscores the need for early diagnosis, multidisciplinary management, and exploration of molecular profiling for therapeutic planning.</p>","PeriodicalId":74664,"journal":{"name":"Reports (MDPI)","volume":"8 3","pages":""},"PeriodicalIF":0.8,"publicationDate":"2025-09-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12452751/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145115365","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":"Acquired Angioedema Related to Transient C1- Inhibitor Deficiency Triggered by <i>Mycoplasma pneumoniae</i> Infection: A Case Report.","authors":"Athanasia-Marina Peristeri, Olympia Akritidou, Anna Nikopoulou, Konstantina Theodoridou, Michail Leontakianakos, Christina Chrysanthi Theocharidou, Georgios Pilianidis","doi":"10.3390/reports8030164","DOIUrl":"10.3390/reports8030164","url":null,"abstract":"<p><p><b>Background and Clinical Significance</b>: Acquired angioedema (AAE) is a rare and potentially life-threatening condition characterized by acquired deficiency of C1-inhibitor (C1-INH) resulting in hyperactivation of the classical complement pathway. AAE occurs in association with malignancies or autoimmune diseases. Infectious triggers are rarely encountered, and the underlying mechanisms have yet to be completely clarified. <b>Case Presentation</b>: This case involves a previously healthy 19-year-old male who was admitted with <i>Mycoplasma pneumonia</i> and oral ulcers, subsequently developing unilateral facial angioedema. Laboratory studies demonstrated reduced C4, decreased levels and activity of C1-INH, and reduced C1q, all consistent with acquired C1-INH deficiency. These findings were attributed to the presence of cold agglutinins, which are frequently observed in <i>Mycoplasma pneumoniae</i> infections. Following treatment with icatibant, a bradykinin B2 receptor antagonist, the patient's angioedema resolved rapidly. An exhaustive workup found no evidence of underlying systemic disorders, and the patient did not experience any angioedema attacks following resolution of the infection. <b>Conclusions</b>: The presence of cold agglutinins, commonly associated with <i>Mycoplasma</i> infections, can precipitate a decline in C1-INH levels, resulting in complement pathway dysregulation. This disruption leads to an excess of bradykinin, followed by increased vascular permeability and localized edema.</p>","PeriodicalId":74664,"journal":{"name":"Reports (MDPI)","volume":"8 3","pages":""},"PeriodicalIF":0.8,"publicationDate":"2025-09-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12452343/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145115334","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 Sole Case of Concurrent Arterial and Venous Thromboses with Massive Pulmonary Embolism and Carriage of Four Genetic Polymorphisms: Factor V Leiden, PAI-1 4G/5G, MTHFR C677T, and ACE I/D-A Case Report.","authors":"Nevena Ivanova","doi":"10.3390/reports8030167","DOIUrl":"10.3390/reports8030167","url":null,"abstract":"<p><p><b>Background and Clinical Significance:</b> Arterial and venous thromboses are typically distinct clinical entities, each governed by unique pathophysiological mechanisms. The concurrent manifestation of both, particularly in the setting of massive pulmonary embolism (PE), is exceptionally rare and poses significant diagnostic and therapeutic challenges. <b>Case Presentation:</b> This report describes a 61-year-old male with well-controlled hypertension and type 2 diabetes who developed extensive thromboses involving deep vein thrombosis (DVT) of the right popliteal vein, arterial thrombosis of the left iliac artery, and massive PE. The patient was initially managed conservatively, in accordance with the European Society of Cardiology (ESC) 2019 Guidelines for Acute PE, using unfractionated heparin (UFH), low-molecular-weight heparin, a direct oral anticoagulant (DOAC), and adjunctive therapy. This approach was chosen due to the absence of hemodynamic instability. However, given failed percutaneous revascularization and persistent arterial occlusion, surgical thromboendarterectomy (TEA) was ultimately required. Post hoc genetic testing was prompted by the complex presentation in the absence of classical provoking factors-such as trauma, surgery, malignancy, or antiphospholipid syndrome-consistent with recommendations for selective thrombophilia testing in atypical or severe cases. The analysis revealed four thrombophilia-associated polymorphisms: heterozygous Factor V Leiden (FVL; R506Q genotype), Plasminogen Activator Inhibitor-1 (PAI-1; 4G/5G genotype), Methylenetetrahydrofolate reductase (MTHFR; c.677C > T genotype), and homozygous Angiotensin-Converting Enzyme Insertion/Deletion (ACE I/D; DD genotype). <b>Conclusions:</b> While each variant has been individually associated with thrombotic risk, their co-occurrence in a single patient with simultaneous arterial and venous thromboses has not, to our knowledge, been previously documented. This case underscores the potential for gene-gene interactions to amplify thrombotic risk, even in the presence of variants traditionally considered to confer only modest to moderate risk. It highlights the need for a multidisciplinary approach and raises questions regarding pharmacogenetics, anticoagulation, and future research into cumulative genetic risk in complex thrombotic phenotypes.</p>","PeriodicalId":74664,"journal":{"name":"Reports (MDPI)","volume":"8 3","pages":""},"PeriodicalIF":0.8,"publicationDate":"2025-09-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12452516/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145115340","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":"Investigating the Impact of Presentation Format on Reading Ability in Posterior Cortical Atrophy: A Case Study.","authors":"Jeremy J Tree, David R Playfoot","doi":"10.3390/reports8030160","DOIUrl":"10.3390/reports8030160","url":null,"abstract":"<p><p><b>Background and Clinical Significance:</b> Patients with a neurodegenerative condition known as posterior cortical atrophy (PCA) can present with attention impairments across a variety of cognitive contexts, but the consequences of these are little explored in example of single word reading. <b>Case Presentation:</b> We present a detailed single-case study of KL, a local resident of South Wales, a patient diagnosed with posterior cortical atrophy (PCA) in 2018, whose reading and letter-naming abilities are selectively disrupted under non-canonical visual presentations. In particular, KL shows significantly impaired accuracy performance when reading words presented in tilted (rotated 90°) format. By contrast, his reading under conventional horizontal (canonical) presentation is nearly flawless. Whilst other presentation formats including, <i>mixed-case</i> text (e.g., TaBLe) and vertical (marquee) format led to only mild performance decrements-even though mixed-case formats are generally thought to increase attentional 'crowding' effects. <b>Discussion:</b> These findings indicate that impairments of word reading can emerge in PCA when visual-attentional demands are sufficiently high, and access to 'top down' orthographic information is severely attenuated. Next, we explored a cardinal feature of <i>attentional dyslexia</i>, namely the word-letter reading dissociation in which word reading is superior to letter-in-string naming. In KL, a similar dissociative pattern could be provoked by non-canonical formats. That is, conditions that similarly disrupted his word reading led to a pronounced disparity between word and letter-in-string naming performance. Moreover, different orientation formats revealed the availability (or otherwise) of distinct compensatory strategies. KL successfully relied on an oral (letter by letter) spelling strategy when reading vertically presented words or naming letters-in-strings, whereas he had no ability to engage compensatory mental rotation processes for tilted text. Thus, the observed impact of non-canonical presentations was moderated by the success or failure of alternative compensatory strategies. <b>Conclusions:</b> Importantly, our results suggest that an attentional 'dyslexia-like' profile can be <i>unmasked</i> in PCA under sufficiently taxing visual-attentional conditions. This approach may prove useful in clinical assessment, highlighting subtle reading impairments that conventional testing might overlook.</p>","PeriodicalId":74664,"journal":{"name":"Reports (MDPI)","volume":"8 3","pages":""},"PeriodicalIF":0.8,"publicationDate":"2025-08-31","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12452716/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145115081","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":"Non-Contrast CT Hemorrhage Markers and Outcomes in Intracerebral Hemorrhage: A Large Single-Center Cohort from Romania.","authors":"Cosmin Cindea, Vicentiu Saceleanu, Patrick Canning, Corina Roman-Filip, Romeo Mihaila","doi":"10.3390/reports8030159","DOIUrl":"10.3390/reports8030159","url":null,"abstract":"<p><strong>Background and purpose: </strong>Spontaneous intracerebral hemorrhage (ICH) is associated with high rates of morbidity and mortality. Early hematoma expansion (HE) is a key driver of poor outcomes, yet readily available non-contrast CT (NCCT) markers remain underused. We assessed four predefined NCCT signs-Blend Sign (BS), Black Hole Sign (BHS), Irregular Shape (IRS), and Satellite Sign (SS)-and a simple composite score (SUM_BBIS, 0-4) for their association with HE and in-hospital mortality.</p><p><strong>Methods: </strong>We retrospectively analyzed 404 consecutive adults with primary spontaneous ICH admitted to a tertiary-care center between January 2017 and December 2023. Patients with secondary causes of hemorrhage or without follow-up NCCT were excluded. Each sign was scored dichotomously by blinded readers and summed to form the SUM_BBIS. HE was defined as a >6 mL or >33% volume increase on repeat NCCT within 24-48 h. Outcomes included HE and in-hospital mortality; secondary analyses explored relationships with baseline hematoma volume, location, intraventricular extension (IVH), and comorbidities.</p><p><strong>Results: </strong>Among 404 patients, Irregular Shape was most frequent (62.1%), followed by Satellite Sign (34.9%), Black Hole Sign (31.1%), and Blend Sign (15.3%). Hematoma expansion occurred in 22.0% (89/404). Expansion was more common when ≥1 sign was present, with the Black Hole Sign showing the strongest association (56.2% vs. 23.8%; <i>p</i> < 0.001). In-hospital mortality rose stepwise with higher SUM_BBIS (mean 1.95 in non-survivors vs. 0.93 in survivors; <i>p</i> < 0.001).</p><p><strong>Conclusions: </strong>The four predefined NCCT signs, particularly BHS, identify ICH patients at increased risk of HE and in-hospital death. A simple, purely imaging-based composite (SUM_BBIS) captures cumulative radiological complexity and stratifies risk in a stepwise manner. Systematic evaluation of these markers may enhance early triage and inform timely therapeutic decisions, especially in emergency and resource-limited settings.</p>","PeriodicalId":74664,"journal":{"name":"Reports (MDPI)","volume":"8 3","pages":""},"PeriodicalIF":0.8,"publicationDate":"2025-08-28","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12452692/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145115168","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}