Reports, Volume 9, Issue 1 (March 2026) – 94 articles

Background and Clinical Significance: Scoliosis prevalence in patients with ataxia telangiectasia (AT) is higher than in the general population. Scoliosis monitoring is traditionally performed using X-rays, but radiographic imaging is contraindicated in AT patients due to radiation sensitivity. Current guidelines suggest a diagnostic radiograph with subsequent Magnetic Resonance Imaging (MRI). In this report, we (1) evaluated the feasibility of using surface topography (ST) to observe 3D spine curvature trends in a long-term follow-up of a patient with scoliosis and AT, and (2) developed a novel paradigm for monitoring scoliosis in AT patients. Case presentation: A female patient (11 years old) with AT and scoliosis was monitored using ST in five visits over four years. Between subsequent visits, her ST measurements included average changes in thoracic scoliotic angle of 5.5° ± 4.9°, thoracolumbar scoliotic angle of 7.8° ± 5.5°, thoracic axial surface rotation (ASR) of 8.0° ± 8.5°, thoracolumbar ASR of 7.0° ± 4.5°, thoracic apical deviation of 6 mm (only measured in two visits), thoracolumbar apical deviation of 10 mm ± 2.4 mm, pelvic obliquity of 5.8 mm ± 3.9 mm, shoulder obliquity of 20 mm (only measured in two visits), coronal imbalance of 11.8 mm ± 9.7 mm, and kyphotic angle of 5.5° ± 5.4°. ST effectively monitored curve patterns throughout the 4-year treatment period, enabling informed treatment decisions by the provider, patient, and family. We also developed a novel paradigm combining diagnostic MRI with serial ST imaging every 6–12 months to monitor curve progression with supplemental MRI as needed. Conclusions: Our novel ST paradigm provides a feasible method for monitoring 3D scoliosis progression in AT patients while avoiding unnecessary radiographic imaging. Full article

Background and Clinical Significance: Peptic ulcer perforation is a severe complication of peptic ulcer disease, resulting from erosion of the upper gastrointestinal mucosa. While uncommon in post-cesarean patients, its symptoms can resemble post-operative complications, risking delayed diagnosis and adverse outcomes. This case highlights the need for an expanded diagnostic approach in post-cesarean patients with atypical abdominal symptoms. Case Presentation: A 27-year-old West African woman presented to Ain Shams University Hospital in Cairo, Egypt, with worsening abdominal pain, vomiting, fever, and tachycardia three weeks post-cesarean. Initially misdiagnosed with gastroenteritis, she underwent emergency laparotomy due to persistent symptoms, which revealed a 3 cm perforated peptic ulcer. An omental patch repair was performed, and she was discharged in stable condition seven days later. Peptic ulcer perforation, although rare post-cesarean, can mimic common post-operative symptoms, leading to diagnostic delays. A thorough evaluation of abdominal symptoms unresponsive to standard post-operative care is essential, as misdiagnosis increases risks of morbidity. Non-gynecologic causes should be considered, particularly with persistent symptoms. Conclusions: Physicians should consider peptic ulcer perforation in post-cesarean patients presenting with sustained abdominal pain, fever, or gastrointestinal distress. Recognizing atypical complications early allows timely intervention, improving outcomes and reducing mortality. This case underscores the value of broad differential diagnoses in post-operative care. Full article

Background and Clinical Significance: Polycythemia vera is a myeloproliferative neoplasm associated with a high thrombotic risk. Although this association is well recognized, acute coronary syndrome as the initial manifestation of polycythemia vera is rare. Case Presentation: We report the case of a previously healthy 57-year-old male with no conventional cardiovascular risk factors who presented with an anterior ST-elevation myocardial infarction. Coronary angiography revealed a subocclusive lesion in the left anterior descending artery, which was successfully treated with primary percutaneous coronary intervention. Initial laboratory testing showed markedly elevated hemoglobin (209 g/L) and hematocrit (64.9%), together with thrombocytosis (438 × 10⁹/L). In the absence of conventional risk factors, the combination of a single-vessel coronary lesion and marked hematologic abnormalities raised suspicion for polycythemia vera as a major contributor to coronary thrombosis. Subsequent work-up confirmed polycythemia vera based on the presence of a JAK2 V617F mutation and suppressed erythropoietin levels. The patient underwent therapeutic phlebotomy shortly after angioplasty and was subsequently started on hydroxyurea to maintain a hematocrit below 45%, together with dual antiplatelet therapy. Conclusions: This case highlights acute myocardial infarction as a rare initial presentation of polycythemia vera. It underscores the importance of considering polycythemia vera in patients presenting with acute coronary syndrome and unexplained erythrocytosis, while acknowledging that, in the absence of intracoronary imaging, a definitive causal link between PV and the coronary event cannot be established. Full article

Background/Objectives: This study developed and evaluated a BERT-assisted literature screening workflow to support meta-analyses of postradiotherapy complications in nasopharyngeal carcinoma patients. The aim was to automate key screening steps to improve downstream screening efficiency and consistency, while minimizing time and bias during manual reviews. Materials and Methods: A bidirectional encoder representations from transformers (BERT) model was integrated into a standard systematic review pipeline for studies on postradiotherapy complications in nasopharyngeal carcinoma. The workflow combined automated BERT-based classification with manual verification and followed PRISMA and PICOS guidelines for literature identification, screening, and eligibility assessment. Model training involved hyperparameter tuning and comparison of different optimizers to maximize screening performance against a manually curated reference set, with particular attention to discrimination (AUC) and processing time. Results: From an initial corpus of 6496 records, the combined automated and manual workflow identified 23 eligible studies for meta-analysis. The included studies showed substantial heterogeneity (I² = 86.85%), supporting the use of a random-effects model to pool outcomes. The BERT model optimized with an Adagrad optimizer achieved an AUC of 0.77 for relevant-study classification and reduced screening time to 1142 s. To demonstrate the workflow’s utility, a downstream meta-analysis was conducted using the identified studies. As a downstream application based on the identified studies, a quantitative synthesis was conducted, in which (meta-analysis of the 23 included studies), a random forest model—evaluated across those studies—achieved an AUC of 0.92 under a fixed-effect analysis for predicting postradiotherapy complications. Conclusions: Integrating BERT into the literature screening phase of meta-analysis for postradiotherapy nasopharyngeal carcinoma complications markedly improved screening efficiency while maintaining acceptable classification performance. This workflow demonstrates the feasibility of transformer-based assistance for systematic reviews and provides a foundation for developing disease-specific, AI-augmented evidence synthesis pipelines in oncology. Full article

Background and Clinical Significance: Ensitrelvir is an oral inhibitor of the severe acute respiratory syndrome coronavirus 2 (SARS-CoV-2) main protease (3CL pro). Compared with remdesivir and molnupiravir, ensitrelvir achieves higher rates of SARS-CoV-2 antigen clearance and a more favorable viral shedding profile. Case Presentation: A 67-year-old Japanese man with follicular lymphoma had received obinutuzumab plus bendamustine, followed by obinutuzumab maintenance therapy. Hypogammaglobulinemia and profound B-cell depletion persisted for more than 1 year after the final maintenance dose. Three months prior to the current admission, the patient developed coronavirus disease 2019 (COVID-19) and was treated with a 10-day course of remdesivir and dexamethasone. The patient subsequently presented with recurrent COVID-19 pneumonia. Treatment with remdesivir and dexamethasone did not result in clinical improvement, and the SARS-CoV-2 antigen level increased despite adjunctive intravenous immunoglobulin. After ensitrelvir was added to remdesivir, the SARS-CoV-2 antigen levels declined rapidly, and clinical parameters, including fever, inflammatory markers (C-reactive protein), and oxygenation, improved promptly, allowing for discharge. Conclusions: Ensitrelvir may be an effective therapeutic option for the treatment of persistent or refractory COVID-19 in immunocompromised patients. Clinicians should recognize that patients treated with obinutuzumab may remain immunosuppressed for several years after therapy. Full article

Background and Clinical Significance: Subvalvular aortic stenosis (SAS) is the second most common form of aortic stenosis after valvular disease and predominantly affects male patients. It is frequently associated with other congenital cardiac anomalies, such as ventricular septal defect, and is rarely diagnosed during infancy. Instead, SAS typically manifests during childhood or adulthood as a progressive left ventricular outflow tract obstruction, leading to left ventricular hypertrophy and, in many cases, aortic regurgitation. Case Presentation: The first patient was a 61-year-old man presenting with progressive dyspnea, in whom echocardiography revealed severe subaortic stenosis and computed tomography demonstrated aneurysmal dilatation of the ascending aorta. Intraoperatively, the aortic valve was found to be dystrophic with mixed stenotic and regurgitant disease; therefore, subaortic membrane resection, mechanical aortic valve replacement, and ascending aortic replacement with a synthetic graft were performed. The second patient was a 31-year-old man with exertional dyspnea and a discrete subaortic membrane associated with mild ascending aortic dilatation. Surgical treatment consisted of complete membrane resection and aortic valve repair, while the ascending aorta was preserved. Both patients had an uneventful postoperative course and were discharged on the fourth postoperative day. At 3-month follow-up, both were asymptomatic, in normal sinus rhythm, and demonstrated satisfactory echocardiographic findings without residual left ventricular outflow tract obstruction. Conclusions: Surgical intervention remains the definitive treatment for subvalvular aortic stenosis when clinically indicated. Concomitant cardiac or aortic pathology should be addressed during the same procedure to optimize outcomes. When performed with meticulous technique and appropriate patient selection, surgical correction is associated with excellent early recovery and favorable mid-term results, although long-term follow-up remains essential due to the risk of recurrence. Full article

Background and Clinical Significance: Ventriculoperitoneal (VP) shunting remains the standard definitive treatment for progressive neonatal obstructive hydrocephalus. Congenital chylous ascites is an uncommon neonatal condition, most often related to developmental lymphatic abnormalities. The concurrence of hydrocephalus requiring VP diversion with congenital chylous ascites is exceptionally rare and may first become apparent during abdominal access for shunt placement. Awareness of this possibility is clinically important because milky peritoneal fluid at shunt surgery can mimic gastrointestinal injury, and persistent postoperative abdominal fluid collections may be misattributed to shunt-related complications. Case Presentation: A late-preterm female infant (36 weeks’ gestation; birth weight 2.3 kg) presented with congenital hydrocephalus. Cranial ultrasonography was consistent with isolated aqueductal stenosis. Preoperative abdominal ultrasonography demonstrated mild ascites. On 27 May 2025, a VP shunt was placed for obstructive hydrocephalus. Upon entering the peritoneal cavity, milky-white fluid was encountered, prompting concern for bowel injury; however, careful exploration showed no gastrointestinal perforation. Ascitic fluid analysis revealed markedly elevated triglycerides (2300 mg/dL), confirming chylous ascites. The VP shunt was completed without an intraoperative complication. During follow-up, the infant showed appropriate growth (weight 3.0 kg; length 50 cm), while ascites persisted, and she was referred for multidisciplinary evaluation and management. Conclusions: This case highlights an exceptionally rare association of congenital chylous ascites with isolated aqueductal stenosis, identified incidentally during VP shunt insertion. Prompt intraoperative recognition, biochemical confirmation, and coordinated follow-up are essential to distinguish congenital chylous ascites from shunt-related abdominal fluid collections and to guide appropriate multidisciplinary care. Full article

Background and Clinical Significance: Withdrawal symptoms from an abrupt discontinuation or rapid dose reduction in amantadine has been documented as early as 1987. Symptoms can align with several diagnoses, including but not limited to infection, fever, worsening of Parkinson’s disease, seizures, and an altered mental status. In the case described, the timely diagnosis of amantadine withdrawal was delayed due to its nonspecific presentation. Case Presentation: A man in his 60s presented with lethargy, confusion, and delayed responses. His past medical history included parkinsonism, a seizure, type 2 diabetes, and schizoaffective disorder. Outpatient medications included amantadine, benztropine, divalproex, levetiracetam, paliperidone, risperidone, and semaglutide. He was admitted for an altered mental status, and home medications were held when he became NPO. A nasogastric tube was placed, and amantadine was restarted. Following the amantadine reinitiation, the patient returned to baseline and, after ruling out other causes, was diagnosed with amantadine withdrawal. He ultimately completed a 20-day admission and was discharged to a nursing home. Conclusions: The timely diagnosis of amantadine withdrawal was delayed due to its nonspecific presentation. For patients taking amantadine, clinicians should include amantadine withdrawal in their list of differential diagnoses, and in cases of altered mentation, a careful review of the medication list is essential. Full article

Background and Clinical Significance: Foreign body ingestion represents an endoscopic emergency, with a risk of organ perforation of up to 35%, where increased prevalence was noticed among people with mental disorders and institutionalized patients. Case Presentation: The patient—male, 23 years old, and institutionalized for sequelae of infantile encephalopathy—was admitted for epigastric pain and hyperemetic syndrome that began 10 days earlier. Endoscopically, 12 hard plastic foreign bodies with sharp edges and sizes of 6–7 cm were identified, followed by extraction that was successfully performed in two sessions using a polypectomy snare and a Foreign Body Hood Protector. Additionally, multiple sessile exulcerated polypoid lesions were observed, measuring around 1–3 cm each, occupying the entire antrum. Histological examination showed inflammatory/regenerative elements, with features of moderate-to-high-grade dysplasia, while a rapid urease test for Helicobacter pylori infection was positive. As a consequence, the patient was administered triple eradication therapy. In addition, the patient presented marked features of hypereosinophilia and splenomegaly. Upon endoscopic reevaluation after 3 years and 8 months, no polyps were present and the H. pylori test was negative, while a complete and spectacular remission of both the hypereosinophilia and splenomegaly was observed. Conclusions: This case illustrates that the development and progression of gastric polyposis may be caused by the coexistence of chronic mucosal irritation from foreign bodies and H. pylori infection, which is a rare association. H. pylori eradication and endoscopic removal of the foreign bodies resulted in significant mucosal improvement. Full article

Background and Clinical Significance: Pulmonary hypertension (PH) is a recognized complication of chronic liver disease, most commonly manifesting as portopulmonary hypertension (POHP) prior to liver transplantation. While the natural history and management of pre-transplant PH are well described, the development of de novo pulmonary arterial hypertension (PAH) following liver transplantation remains exceedingly rare and poorly understood. In such cases, establishing true causality is challenging, and alternative explanations—including previously unrecognized or masked disease—must be carefully considered. This entity poses significant diagnostic and therapeutic challenges and may adversely affect post-transplant outcomes if not promptly recognized and treated. Case Presentation: We report the case of a 46-year-old man with end-stage liver disease secondary to alcohol use who underwent deceased donor liver transplantation without preoperative evidence of PH. His pre-transplant evaluation revealed preserved biventricular function and no measurable PH. Eight days postoperatively, he was readmitted with acute dyspnea, hypoxemia, and signs of right ventricular failure. Transthoracic echocardiography demonstrated severe right ventricular dilation and dysfunction with markedly elevated pulmonary artery systolic pressure. Right heart catheterization confirmed severe PAH. Secondary causes of PH were excluded. The patient was initiated on sildenafil and continuous intravenous epoprostenol, resulting in clinical, echocardiographic, and hemodynamic improvement. Subsequent follow-up demonstrated sustained response to therapy despite concurrent progression of coronary artery disease requiring complex percutaneous intervention. Conclusions: This case highlights a rare presentation of severe PAH occurring shortly after liver transplantation, in the absence of documented pre-transplant PH. While a causal relationship cannot be definitively established, the temporal association raises important clinical considerations. It underscores the need for heightened clinical vigilance for pulmonary vascular disease in post-transplant patients presenting with cardiopulmonary symptoms. Further research is warranted to elucidate the underlying mechanisms, risk factors, and optimal management strategies for PAH diagnosed after liver transplantation. Full article

Background and Clinical Significance: Sarcoidosis is a systemic inflammatory disorder characterized by noncaseating granulomas. While pulmonary involvement is common, isolated renal involvement is rare and diagnostically challenging. We report a case emphasizing the utility of urinary tubular markers for early detection. Case Presentation: A 60-year-old woman with a history of suspected ocular sarcoidosis presented with progressive renal impairment and constitutional symptoms. Initial workup for systemic sarcoidosis was negative, leading to a misdiagnosis of chronic fatigue syndrome. Her rising serum creatinine was initially attributed to dehydration. However, a marked elevation in urinary β2-microglobulin (33,736 μg/L) prompted a renal biopsy, which revealed granulomatous tubulointerstitial nephritis. Following prednisolone therapy, her renal function improved, and her fatigue resolved completely. Conclusions: This case demonstrates that the kidney can be the primary site for histological diagnosis in the absence of pulmonary lesions. Incorporating urinary β2-microglobulin into routine monitoring may facilitate the early detection of renal sarcoidosis, preventing diagnostic delays. Full article

Background and Clinical Significance: Bladder cancer is common, with urothelial carcinoma (UC) comprising most cases in Western countries. Metastases usually involve pelvic structures, lymph nodes, and organs such as the liver, lungs, bones, and adrenal glands. Identifying unusual metastatic sites is critical for accurate diagnosis and treatment planning. Case Presentation: A 65-year-old man with a history of high-grade (G3) UC and carcinoma in situ, previously treated with TURBT, second-look resection, and SWOG-protocol BCG, presented with a new bladder lesion (pT1). Staging CT revealed extravesical spread and a 1.5 cm pancreatic body nodule. EUS-guided biopsy confirmed metastatic UC with concordant immunohistochemistry (GATA3+), excluding primary pancreatic cancer. The patient was referred for systemic therapy with immune checkpoint inhibitors and Enfortumab Vedotin. Conclusions: This case demonstrates the rare occurrence of pancreatic metastasis from bladder UC. EUS-guided biopsy with immunohistochemistry is essential to distinguish secondary lesions from primary pancreatic tumors. Accurate diagnosis is crucial to guide systemic therapy, particularly with emerging immunotherapy and antibody–drug conjugates. Full article

Background and Clinical Significance: Currently, the only effective treatment for cataracts is surgery. The most commonly employed method is phacoemulsification, a well-established procedure that uses ultrasound energy to fragment the lens, allowing for easier removal. Potential postoperative complications range from mild to severe corneal edema (pseudophakic bullous keratopathy), which may be caused by intraoperative endothelial cell damage, to the rare formation of iris cysts. Case Presentation: In this paper, we report the case of a patient who underwent cataract surgery in both eyes, where iris incarceration occurred during the surgical procedure, resulting in corneal edema and an iris cyst, both in the left eye. Secondary iris cysts are uncommon following phacoemulsification, with only a few cases reported in the recent literature. The cyst’s impact on corneal edema was unexpected, making this case particularly noteworthy and emphasizing the complexity of cataract surgery and its postoperative complications. Conclusions: This case illustrates the unique interaction between two infrequent complications of cataract surgery. Full article

Background: Enhanced recovery pathways and modern fixation systems have shortened admission after lumbar spine surgery, yet the interplay between implant choice, comorbidity, and early morbidity remains incompletely defined. Methods: We undertook a retrospective, single-center cohort study of lumbar procedures performed at SANADOR Clinical Hospital (Bucharest, Romania) between 1 January 2023 and 31 May 2024. Eighty-six adult patients (64 women, 22 men; mean age 64.9 ± 10.8 years) met the inclusion criteria. Outcomes included length of stay (LOS), early postoperative neurological change (Frankel/American Spinal Injury Association (ASIA) Impairment Scale), and unplanned reoperation within 90 days. Analyses were performed in Python 3.11 (pandas, SciPy, statsmodels) and verified in IBM SPSS 28.0; α = 0.05. Results: Spondylolisthesis was the predominant diagnosis (60.5%), followed by lumbar stenosis (17.4%). Instrumentation was used in 75 cases (87.2%). Median LOS was 3 days (mean 3.8 ± 2.1), and most patients were discharged by postoperative day 4. LOS did not differ by interbody cage status (Mann–Whitney p = 0.459; median 3 vs. 3 days). Early postoperative neurological change occurred in 34.9% but improved or resolved in all cases by discharge; no permanent motor deficits were observed. Unplanned reoperation within 90 days occurred in 17.6%. In multivariable logistic regression for prolonged hospitalization (LOS > 4 days), early postoperative neurological change was associated with increased odds of prolonged LOS (OR 4.45, 95% CI 1.29–15.43; p = 0.018), whereas age showed only a borderline association (OR 1.06 per year, 95% CI 1.00–1.14; p = 0.065). Conclusions: In this single-center retrospective cohort, postoperative hospitalization was generally short. Prolonged LOS was more closely associated with early postoperative neurological change than with baseline comorbidity or interbody cage use. These findings should be interpreted as short-term, context-specific observations from a complex, predominantly instrumented referral cohort. Full article

Pediatric ischemic stroke is rare but may result in severe oral dysfunction. Evidence for prosthetic oral rehabilitation is well established in adults, whereas pediatric data remains limited. We report a pediatric patient with persistent dysphagia and articulatory impairment following recurrent ischemic stroke who underwent stepwise palatal prosthetic intervention. Treatment began with a palatal augmentation prosthesis to establish tolerance and promote tongue–palate contact, followed by a palatal lift prosthesis providing gentle velopharyngeal support. Tongue pressure measurements, oral diadochokinesis, and speech intelligibility improved during appliance use, with gains largely maintained after discontinuation, suggesting motor relearning rather than transient mechanical assistance. This case illustrates the potential value of a tolerance-oriented, stepwise prosthetic strategy in pediatric stroke rehabilitation and underscores the need for individualized adjustment and cautious interpretation of functional metrics. Full article

Background and Clinical Significance: Myolipoma is a rare benign tumor, typically found in the retroperitoneum and characterized by a combination of mature adipocytes and well-differentiated smooth muscle cells. Myoplipomas usually present a delay in diagnosis due to the painless and slow-growing clinical behavior; therefore, the lesion can reach a large dimension with challenging treatment. Case Presentation: We present the case of a retroperitoneal myolipoma infiltrating the left hip of an 11-year-old male. It was suspected based on magnetic resonance imaging. The patient has been successfully treated with surgical excision without complications. Histological examination revealed mature adipose tissue infiltrating smooth muscle cells. The muscle fibers appeared normal, while the dense connective tissue was infiltrated by clusters of mature lymphocytes. Conclusions: Although myolipoma is extremely rare in male children and has never been reported to infiltrate the hip, it should be considered in the differential diagnosis of fat-containing retroperitoneal masses. Full article

Background and Clinical Significance: Posterior urethral valves are rare congenital anomalies characterized by persistent urethral mucosal folds and causing varying degrees of obstruction. The increasing use of prenatal ultrasound has contributed to the early diagnosis of posterior urethral valves (PUV), a condition associated with a severe prognosis, as approximately one-fifth of affected patients develop chronic kidney disease. Early diagnosis and intervention—namely, valve ablation—provide obstruction alleviation and renal function preservation. Therefore, it is uncommon for patients to be diagnosed in adolescence or adulthood, when patients usually present with frequency, voiding dysfunction, daytime incontinence, enuresis, recurrent urinary tract infections, and renal insufficiency. Case Presentation: We present a 14-year-old adolescent with recurrent urinary tract infections. A thorough medical history, clinical examination, and standard imaging revealed bilateral vesicoureteral reflux and posterior urethral valves. The patient underwent urethrocystoscopy for diagnostic and therapeutic purposes and posterior urethral valve ablation. Despite these interventions, the persistence of his symptoms necessitated endoscopic correction of the vesicoureteral reflux and circumcision. During the 2-year follow-up, the patient remained asymptomatic. Conclusions: Symptomatic adolescent boys should undergo a standard urinary evaluation to identify undiagnosed congenital urinary tract diseases and maintain renal and bladder function. Full article

Background and Clinical Significance: Over the last two decades, glucagon-like peptide-1 (GLP-1) receptor agonists have dramatically improved the management of type 2 diabetes mellitus and obesity. Currently, little is known about the use of semaglutide (a second-generation GLP-1 receptor agonist) in patients with X chromosome abnormalities. Herein, we describe the therapeutic use of semaglutide in a woman with a partial deletion of the X chromosome long arm (partial Xq deletion) and comorbid obesity. We also conducted a narrative mini-review on overweight, obesity and common metabolic derangements in patients with partial Xq deletions and Turner syndrome. Case Presentation: A 65-year-old Italian woman with a partial Xq deletion, class 1 obesity, insulin resistance, prediabetes, hypercholesterolemia and metabolic dysfunction-associated steatotic liver disease (MASLD) was referred to our Institution for persistent difficulty in managing excess body weight despite regular adherence to different structured physical activity programs and hypocaloric diets. Therefore, we prescribed a combination therapy based on low-dose metformin (500 mg/day) and once-weekly subcutaneous semaglutide (as an adjunct to lifestyle intervention). At 5 months after initiation of the combination therapy, blood tests showed metabolic improvements, including improvement of prediabetes (0.3-percentage-point reduction in glycated hemoglobin [HbA1c] values) and normalization of markers of insulin sensitivity and insulin resistance (QUICKI, HOMA-IR and TyG index). At 8 months, the patient showed substantial weight loss, which amounted to 13.8 kg (percent total body weight loss: 20.95%), and was accompanied by a notable reduction in waist circumference (−14.1 cm). Moreover, body mass index (BMI)-based weight status improved from class 1 obesity to overweight: BMI value of 25.1 kg/m² at 8 months vs. 31.8 kg/m² at baseline (near-normalization of BMI values). Bioelectrical impedance analysis (BIA) revealed that the patient’s overall weight loss consisted of 74.6% fat mass (FM) loss (−10.3 kg) and 25.4% fat-free mass (FFM) loss (−3.5 kg). Despite the expected FFM reduction in absolute terms, percent FFM increased at 8 months (+9.6%). This increase in percent FFM was accompanied by a reduction in percent FM at 8 months (−9.6%), indicating an overall improvement in body composition. Normalization of percent FM and FFM values (28.6% and 71.4%, respectively) was also achieved at 8 months. These body composition changes are in line with those observed in clinical trials investigating the use of semaglutide in patients with overweight or obesity. At 6 months, an abdominal ultrasound also showed the disappearance of the sonographic characteristics suggestive of mild-to-moderate hepatic steatosis. Low-dose metformin (500 mg/day) and subcutaneous semaglutide (up to a weekly dose of 1.7 mg) were well tolerated by the patient. Conclusions: To the best of our knowledge, this is the first case documenting the effective use of once-weekly subcutaneous semaglutide plus low-dose metformin combination therapy for the treatment of obesity and prediabetes in a woman with a partial Xq deletion. Large prospective cohort studies are warranted to better investigate the safety and efficacy profile of semaglutide (alone or in combination with metformin) in patients with numerical and structural X chromosome abnormalities, comorbid overweight/obesity and related metabolic disorders. Full article

Background and Clinical Significance: Non-bacterial thrombotic endocarditis (NBTE), historically termed marantic endocarditis, is a severe manifestation of cancer-associated hypercoagulability characterized by sterile valvular vegetations and a high risk of systemic embolization. While direct oral anticoagulants (DOACs) have become the standard of care for cancer-associated venous thromboembolism (CAT), their efficacy in preventing high-shear arterial thrombosis in NBTE has been contested. Emerging data suggest that DOACs may fail to halt vegetation growth in active malignancy, necessitating a reversion to heparin-based therapies. Case Presentation: A 47-year-old female with metastatic RET fusion-positive non-small cell lung cancer (NSCLC) presented with progressive dyspnea and digital ischemia despite strict adherence to therapeutic anticoagulation with rivaroxaban for a prior pulmonary embolism. Echocardiography showed large vegetations on all three cusps of the aortic valve, confirming NBTE. Computed tomography revealed extensive tumor progression. The therapeutic strategy involved an immediate switch from rivaroxaban to therapeutic low-molecular-weight heparin (LMWH) and the initiation of dual targeted therapy with selpercatinib and tepotinib. Serial transesophageal echocardiography documented regression within two weeks and eventual complete resolution of the valvular vegetations after eight weeks, occurring in tandem with a rapid radiological response of the tumor. Conclusions: Upon diagnosis of NBTE, a rapid oncologic work-up is warranted, as ongoing tumor progression is highly likely. This case questions the appropriateness of direct oral anticoagulants in patients with NBTE and active, progressive malignancy. Full article

Background: Alopecia areata is an autoimmune disorder characterized by nonscarring hair loss, which can progress to alopecia totalis or universalis. While JAK inhibitors have shown efficacy in severe cases, evidence in pediatric and adolescent populations remains limited. This study evaluated the efficacy and safety of upadacitinib in pediatric patients with alopecia totalis and subtotalis. Methods: This is a retrospective case series that included eight patients aged 9 to 14 years treated with upadacitinib 15 mg daily and followed for up to two years. Clinical response, treatment duration, adverse effects, and laboratory results were monitored. Results: All patients demonstrated clinical improvement, with most achieving complete or near-complete regrowth of scalp, eyebrow, and eyelash hair. The median regrowth time was 3 months. Mild acne was observed in two patients; no serious side effects occurred. Conclusions: In this case series, upadacitinib was associated with encouraging clinical responses and was well-tolerated by most of our patients; however, larger-scale studies are needed to confirm its efficacy and long-term safety. Full article

Background and Clinical Significance: Celiac disease (CD) is a gluten-triggered immune enteropathy that may rarely present as Celiac crisis (CC), a life-threatening condition marked by severe diarrhea, dehydration, metabolic derangements, and acute malnutrition. Pediatric diagnostic criteria are lacking, and despite its reduced incidence in high-income countries, CC remains a critical complication, potentially associated with refeeding syndrome. Case Presentation: We report the case of a 23-month-old girl presenting with chronic diarrhea, weight loss, iron-deficiency anemia, hypoalbuminemia, and coagulation abnormalities. Serology confirmed CD, and a gluten-free diet (GFD) was initiated. However, the patient experienced clinical deterioration consistent with CC. Her course was further complicated by refeeding syndrome, ileo-ileal intussusception, and deep vein thrombosis, requiring corticosteroids, anticoagulation, and multidisciplinary nutritional support. Full clinical recovery was achieved within two months. Conclusions: This case highlights the life-threatening potential of CC and the necessity for early recognition. Timely GFD initiation, correction of metabolic abnormalities, and monitoring for refeeding syndrome are essential. We propose pediatric-adapted diagnostic criteria to facilitate earlier recognition and standardize the management of CC. The proposed framework includes major and minor criteria based on the rapid onset of gastrointestinal symptoms with serological evidence of CD autoimmunity, accompanied by clinical instability requiring hospitalization or intensive support and multiple indicators of systemic compromise. Full article

Background and Clinical Significance: Talar body fractures are very rare injuries, and their occurrence alongside ipsilateral fractures is even more uncommon. We present a case of a 40-year-old male who sustained a talar body fracture combined with an ipsilateral bimalleolar fracture after falling from a height, a combination previously described in only two cases. Case Presentation: Open reduction and internal fixation (ORIF) were performed using dual approaches for both the talus and malleolar fractures. Postoperatively, the rehabilitation protocol included a non-weight-bearing short leg cast, followed by partial weight-bearing with a controlled ankle movement (CAM) boot. At one-year follow-up, the patient achieved an American Orthopedic Foot and Ankle Society (AOFAS) score of 90 and reported minimal pain. Radiographs demonstrated minimal osteoarthritic changes and no signs of osteonecrosis. Nevertheless, early signs of osteonecrosis (ARCO grade I) were detected on MRI 15 months postoperatively. Conclusions: This case highlights the rarity of such injuries, outlines our institution’s treatment approach, and emphasizes the importance of long-term follow-up to monitor for complications such as post-traumatic arthritis and osteonecrosis. Full article

Introduction and Clinical Significance: Cushing’s disease is a rare but clinically consequential cause of endogenous hypercortisolism in children, most commonly resulting from ACTH-secreting pituitary microadenomas. In contrast to adults, growth deceleration accompanied by disproportionate weight gain represents the earliest and most sensitive clinical marker in pediatric cases. Sustained hypercortisolism during critical periods of somatic maturation may compromise final height, disrupt pubertal progression, and induce persistent metabolic and neurocognitive sequelae, even after biochemical remission. Early recognition and timely intervention are, therefore, essential to preserve developmental trajectories. Case Presentation: A 13-year-and-8-month-old boy was referred for evaluation of progressive linear growth impairment, markedly reduced growth velocity (0.8 cm/year; <1st percentile), and insidious weight gain over a two-year period. His height was at the 5th percentile, substantially below the mid-parental target. Biochemical assessment showed repeated elevations of 24 h urinary free cortisol and ACTH levels, consistent with ACTH-dependent hypercortisolism. Dynamic testing supported a pituitary etiology, and high-resolution MRI identified a 3 × 2 mm microadenoma. The patient underwent successful endoscopic transsphenoidal resection. Postoperatively, transient central diabetes insipidus and secondary adrenal insufficiency developed, requiring structured endocrine follow-up. Recovery of hypothalamic–pituitary–adrenal axis function was confirmed one year after surgery, allowing discontinuation of glucocorticoid replacement. Conclusions: Cushing’s disease should be suspected in children presenting with growth deceleration in the context of disproportionate weight gain. Timely diagnosis and early surgical management are essential to mitigate long-term auxological and metabolic sequelae. Postoperative endocrine disturbances, particularly transient adrenal insufficiency, are frequent and require systematic follow-up with periodic functional reassessment to ensure complete endocrine recovery. Full article

Background and Clinical Significance: Heat-press injuries of the hand can cause deceptively deep, progressive tissue damage, and dorsal multi-digit involvement carries a high risk of joint stiffness and scar contracture. Case Presentation: A 58-year-old left-hand-dominant woman sustained a dorsal heat-press injury affecting the left index to small fingers; we performed staged reconstruction with tangential debridement and artificial dermis placement (Day 9) followed by full-thickness skin grafting (FTSG) from the right infraclavicular region (Day 23), with supervised rehabilitation from Day 15 and active ROM resumed on postoperative day (POD) 6 after FTSG. Conclusions: At long-term follow-up (POD 821 after FTSG; ≈2.2 years), the reconstructed digits showed no hypertrophic scarring and achieved full finger motion with full fist formation; serial joint-specific active ROM tracking may enhance interpretability and comparability of outcomes in this uncommon but functionally critical injury pattern. Full article

Background and Clinical Significance: Embolization of septal occluder devices after patent foramen ovale (PFO) closure is uncommon but potentially serious, as migrated devices may lodge in the arterial system and require urgent management. Cross-sectional imaging may reveal delayed migration incidentally, and endovascular snare retrieval represents a minimally invasive first-line strategy in stable patients. Case Presentation: An 18-year-old woman presented with acute abdominal pain one month after percutaneous PFO closure performed for preventive purposes in the setting of migraine with visual aura. Contrast-enhanced computed tomography (CT), obtained for suspected intra-abdominal bleeding, demonstrated hemoperitoneum from a hemorrhagic ovarian cyst and incidentally identified the Amplatzer occluder lodged in the infrarenal abdominal aorta with preserved renal artery patency. Transthoracic echocardiography confirmed device absence at the interatrial septum. Endovascular retrieval was performed via right common femoral artery access (5 Fr upsized to 12 Fr) using a 20 mm snare system, with successful removal of the device through the introducer and no intra-procedural complications. Conclusions: Delayed migration of a PFO occluder can be detected incidentally during evaluation for unrelated symptoms. In hemodynamically stable patients, transfemoral endovascular snare capture and re-sheathing through a large-bore introducer can achieve safe and effective device retrieval while preserving aorto-iliac patency. Full article

Background and Clinical Significance: Metastases of prostate adenocarcinoma most commonly involve the skeletal system, while orbital metastases, including those in the lacrimal gland, are extremely rare. Despite significant advances in the sensitivity of available imaging methods, their diagnosis is often delayed due to nonspecific clinical presentation and rarity of occurrence. Although exceedingly uncommon, orbital metastases have also been reported in other solid tumors, including certain gynecologic malignancies. Case presentation: A 49-year-old patient treated at our center for prostate adenocarcinoma with a Gleason score of 9, regional lymphadenopathy and bone metastases presented to the outpatient clinic with ptosis of the left eyelid, which had developed 7 days prior to examination (13 months after diagnosis of PC). Radiological diagnostics, including CT of the endocranium, revealed enlargement of the left lacrimal gland. An exploratory anterior orbitotomy was performed with an incisional biopsy of the tumor change under retrobulbar anesthesia, and histopathological analysis confirmed a metastatic tumor of the lacrimal gland originating from prostate adenocarcinoma. Despite the application of all available therapeutic measures, a fatal outcome occurred 6 months after the onset of ophthalmic symptoms. Discussion: Orbital involvement in metastatic prostate cancer remains poorly characterized due to its extreme rarity and nonspecific clinical presentation. This case emphasizes the need for a high index of suspicion for metastatic disease in patients with known advanced prostate cancer presenting with new orbital or lacrimal gland lesions, as imaging findings alone may be insufficient to distinguish metastases from primary orbital tumors. Conclusions: Metastasis of prostate adenocarcinoma to the lacrimal gland is an extremely rare clinical manifestation. Timely diagnosis and adequate radiological assessment are crucial for patient management and survival. The aims of this case report areto present a rare metastatic manifestation of prostate adenocarcinoma with orbital/lacrimal metastasis of prostate adenocarcinoma origin, and to highlight metastatic prostate disease as a potential differential diagnosis in orbital lesions and the importance of imaging methods in their detection. Full article

Introduction: Distal intracapsular minimally invasive osteotomies (DICMOs) for central metatarsals are described as intracapsular procedures; however, neither their intracapsular location throughout the entire cut nor the optimal anatomical position for their execution have been fully validated. The aim of this study was to assess the geometric position of the DICMO osteotomy in the central metatarsals (third and fourth) and quantify associated anatomical damage when performed under three different guidance modalities: anatomical palpation, fluoroscopic control, and ultrasound guidance. Material and methods: An experimental cadaveric study was conducted using 29 fresh specimens (11 males, 18 females), contributing a total of 58 central metatarsals (third and fourth). All specimens underwent a DICMO-type metatarsal osteotomy. Osteotomies were randomly allocated to three intervention groups: (1) ultrasound (n = 20), (2) fluoroscopy (n = 19), and (3) anatomical guidance (n = 19). Metatarsal length, the distance between the osteotomy line and the articular surface, and post-dissection soft-tissue damage were recorded. Results: After dissection, all osteotomies were confirmed to be intracapsular. A constant proportional relationship was identified between osteotomy location and metatarsal length: distance to the joint line = 0.239 × metatarsal length. This relationship was independent of the guidance technique used. Only one iatrogenic lesion was observed: an articular cartilage injury of a third metatarsal in the anatomical-guidance group. Conclusions: The optimal position for DICMO osteotomy placement is approximately 24% of the total distal metatarsal length. This ensures an intracapsular trajectory and may contribute to intrinsic osteotomy stability. Image guidance—either fluoroscopy or ultrasound—appears essential to optimize outcomes and prevent avoidable anatomical damage. Full article

Background and Clinical Significance: Congenital erythropoietic porphyria (CEP), also known as Günther disease, is a rare autosomal recessive porphyria caused by a deficiency of uroporphyrinogen III synthase, leading to the accumulation of phototoxic type I porphyrins. CEP classically presents in infancy with severe photosensitivity, blistering, scarring, and hemolytic anemia; however, significant phenotypic variability has increasingly been recognized. Case Presentation: We report a 32-year-old woman diagnosed with CEP in early infancy who demonstrated persistently and profoundly elevated erythrocyte porphyrin levels over more than a decade, yet who followed a relatively non-mutilating clinical course. Genetic testing identified a low-penetrance intronic UROS variant typically associated with erythropoietic protoporphyria, underscoring diagnostic challenges and genotype–phenotype discordance. The patient experienced marked improvement in photosensitivity and burning pain after initiation of afamelanotide, without the need for transfusion therapy or stem cell transplantation. Conclusions: This case highlights the heterogeneity of CEP, the importance of long-term biochemical follow up, and the potential role of afamelanotide in improving quality of life for selected patients with CEP. Full article