Reports, Volume 8, Issue 3 (September 2025) – 80 articles

Background and Clinical Significance: Retained intrarenal foreign bodies are rare adverse events after endourological stone surgery. Guidewire fracture or detachment is uncommon and can trigger infection, obstruction, or encrustation if unrecognized. We report antegrade percutaneous snare retrieval of a retained hydrophilic guidewire tip and provide a concise literature review (seven PubMed-indexed intrarenal cases identified by a structured search) to inform diagnosis, management, and prevention. We also clarify the clinical rationale for an antegrade versus retrograde approach and the sequencing of decompression, definitive stone management, and stenting in the context of sepsis. Case Presentation: A 75-year-old woman with diabetes presented with obstructive left pyelonephritis from ureteral and renal calculi. After urgent percutaneous nephrostomy, she underwent semirigid and flexible ureteroscopic lithotripsy with double-J stenting; the nephrostomy remained. During routine tube removal, the stent was inadvertently extracted. Seven days later she re-presented with fever and flank pain. KUB and non-contrast CT showed a linear 4 cm radiopaque foreign body in the left renal pelvis with dilatation. Under local anesthesia and fluoroscopy, a percutaneous tract was used to deploy a 35 mm gooseneck snare and retrieve the distal tip of a hydrophilic guidewire (Sensor/ZIP-type). Inflammatory markers were normalized; the nephrostomy was removed on day 5; six-week imaging confirmed complete clearance without complications. Conclusions: Retained guidewire fragments should be suspected in postoperative patients with unexplained urinary symptoms or infection. Cross-sectional imaging confirms the diagnosis, while minimally invasive extraction—preferably an antegrade percutaneous approach for rigid or coiled fragments—achieves prompt resolution. This case adds to the seven prior PubMed-indexed intrarenal reports identified in our review, bringing the total to eight, underscoring prevention through pre-/post-use instrument checks, immediate fluoroscopy when withdrawal resistance occurs, and structured device accounting to avoid “never events.” Full article

Background and Clinical Significance: Tooth impaction is a developmental anomaly characterized by the inability of a tooth to emerge into its predetermined anatomical position within the oral cavity during the normal eruption period. Impaction of the mandibular second premolar is an uncommon condition and poses a heightened risk of neurosensory injury when the tooth is adjacent to the mental foramen. Early diagnosis and precise planning are therefore essential. Case Presentation: This case report presents a rare instance of an asymptomatic impacted mandibular second premolar located in close proximity to the mental foramen in a 44-year-old female patient. The impaction was discovered incidentally on an orthopantomogram, and Cone-Beam Computed Tomography (CBCT) confirmed intimate contact between the root of the impacted second premolar and the mental nerve. Surgical removal was performed under local anesthesia via a conservative triangular flap and a corticotomy window. Platelet-Rich Fibrin (PRF) generated from autologous blood was placed in the socket to foster healing. The proximity of the mental foramen dictated minimal bone removal and atraumatic luxation to avoid nerve stretch or compression. PRF was selected as an effective biomaterial shown to accelerate soft tissue healing and moderate postoperative discomfort, potentially reducing the likelihood of neurosensory disturbance. The socket presented satisfactory healing, and neurosensory function was normal at the first week follow-up and remained normal at 7 months postoperatively (longest follow-up), and no complications were reported by the patient. Conclusions: CBCT-guided planning, meticulous surgical techniques, and adjunctive PRF allowed for safe extraction without post-operative paraesthesia. Timely identification of such rare impactions broadens treatment options and minimizes complications. Full article

Background and Clinical Significance: The recreational use of semisynthetic cannabinoids (SSCs) is increasing, and SSCs account for more than 40% of all new substances reported at the European level. Although designed to mimic the effects of tetrahydrocannabinol (THC), the primary psychoactive compound in cannabis, evidence suggests that certain SSCs may elicit stronger, prolonged and unintended pharmacological effects. SSCs are easily accessible, particularly via online retailers, but in some countries, SSCs are also sold in convenience stores or specialty stores selling legal low-THC or cannabidiol (CBD) products. Often, SSCs are sold as “legal highs” and are found in various forms, including herbal mixtures (spice), vape products, and edibles such as cookies and candies, specifically targeting young users, including children. The products are frequently mislabeled and sold as souvenirs or aromatic potpourri to bypass regulations. Case Presentation: We present a case of a male in his early forties who was admitted to the Emergency Department due to noticeable deficits in alertness and responsiveness after recreational ingestion of two cannabis cookies labeled to contain 40 mg “CC9” and a bite of a gummy with unknown contents. The patient experienced vomiting and visual problems, and suffered from nine days of cognitive and physical impairment. HHC-C9, a novel SSC, was detected in blood through forensic toxicological analysis. Conclusions: Recreational use of HHC-C9 can cause vomiting, visual disturbances, and drowsiness, potentially requiring hospital treatment. Potency, clinical effects, and toxicity of SSCs can vary significantly, and in combination with easy accessibility, SSCs pose a potential risk of intoxication to unaware consumers. Full article

Background and Clinical Significance: Endogenous hyperinsulinemic hypoglycemia (HHE) is a rare cause of hypoglycemia, primarily associated with insulinomas, the most common functional pancreatic neuroendocrine tumors. This clinical case explores the diagnostic and therapeutic challenges in patients with recurrent hypoglycemia and no history of diabetes, emphasizing the importance of a multidisciplinary approach to optimize outcomes. Case Presentation: We present a 45-year-old woman presenting with severe hypoglycemic episodes and persistent neuropsychiatric symptoms for over a year. Prolonged fasting tests, insulin and C-peptide level measurements, and specialized imaging studies (endoscopic ultrasound and pancreatic protocol computed tomography) were conducted. Surgical resection of the identified lesion was subsequently performed. Diagnostic studies confirmed a well-differentiated 2.5 cm insulinoma, treated with partial pancreatoduodenectomy. The patient developed postoperative complications that required interdisciplinary management, ultimately achieving clinical stabilization and sustained normoglycemia. Conclusions: This case underscores the importance of considering insulinoma in the differential diagnosis of recurrent hypoglycemia in non-diabetic patients, using Whipple’s triad as a key diagnostic criterion. It also highlights the role played by comprehensive strategies combining functional testing (e.g., prolonged fasting) and advanced imaging to ensure timely treatment and reduce the risk of chronic complications. Full article

Background and Clinical Significance: Cocaine use disorder (CUD) is characterized by recurrent, cue-triggered and intrusive urges to use cocaine (craving), compulsive drug-seeking despite adverse consequences, and impaired control over intake, often co-occurring with excess weight and hedonic overeating. A dual-target rationale supports the fixed-dose naltrexone–bupropion (NB) combination: μ-opioid receptor (MOR) antagonism may mitigate opioid-facilitated mesolimbic reinforcement, while bupropion’s catecholaminergic effects and POMC activation support satiety and weight loss. Case Presentation: We describe a case study from an Italian outpatient setting of a 35-year-old man with a 10-year history of CUD, multiple failed detoxifications, and class I obesity (body mass index [BMI] 31 kg/m²) who initiated fixed-dose NB and was followed for 12 weeks under routine care. NB was associated with progressive attenuation of cue-reactive cocaine craving and improved appetite control, alongside clinically meaningful weight reduction, without psychiatric destabilization or emergent safety concerns; medication adherence remained stable. The patient maintained abstinence throughout follow-up and reported improved psychosocial functioning. Quantitatively, CCQ-B scores decreased from 7.2 at baseline to 2.1 at Week 12 (≈70% reduction), while BMI decreased from 31.0 to 25.5 kg/m² (≈−17.7%), with clinically meaningful weight loss and stable adherence. Conclusions: This case study supports the mechanistic rationale that dual NB therapy can simultaneously attenuate cocaine craving and facilitate weight control, addressing two clinically relevant targets in CUD. Although evidence for NB in CUD remains limited and mixed across stimulant populations, this observation highlights a plausible, testable therapeutic hypothesis that integrates mesolimbic and hypothalamic pathways and may inform the design of controlled trials in patients with co-occurring CUD and obesity. Full article

Involuntary urinary leakage due to stress urinary incontinence in women represents a widespread health condition that reduces quality of life. Background: Treatment with tension-free vaginal tape (TVT) remains the most used procedure, although its impact on quality of life, specifically regarding sexual function effects, has not been thoroughly investigated. The aim of our study is to achieve a broader understanding of the full range of outcomes after surgery, emotional well-being, and sexual function. Materials and Methods: The present prospective cohort study was conducted between 15 July 2023 and 15 June 2024 in the Emergency County Clinical Hospital Targu Mures, Department of Obstetrics and Gynecology. This is an investigation of TVT surgery and its impact on urinary incontinence, conducted by evaluating bladder dysfunction and sexual function before and after surgical intervention, as well as considering physical and psychological outcomes using specific questionnaires. Results: There was a 91.7% objective cure rate for incontinence, while urinary symptoms, sexual function, and emotional health significantly improved, urine leakage associated with strong urgency (p = 0.0002), urine leakage associated with coughing, sneezing, or laughing (p ≤ 0.0001), and patient sexual activity and emotional health also improved after surgery (p ≤ 0.0001). Furthermore, colorectal symptoms improved. Conclusions: This study emphasizes that for the best recovery of sexual and emotional health post-surgery, complete symptom removal is a requirement. Additionally, the significance of combined questionnaires in assessing treatment efficacy is highlighted. A larger sample size of patients and a longer follow-up are required before recommending this procedure as a standard treatment. Full article

Background and Clinical Significance: Percutaneous vertebroplasty is an effective procedure for patients with osteoporosis and fractures. However, notable side effects may occur. Cement leakage into the vascular system may be incidental, with effects ranging from asymptomatic to life-threatening conditions. The treatment of extravasation of the cement and pulmonary embolism does not have definitive guidelines and requires specific treatment for every patient, ranging from basic anticoagulation to surgical procedures. Cement embolisms without periprocedural complications—such as cardiac perforation or massive pulmonary embolism—are often stable. However, symptomatic presentations with hemodynamic instability can occur. We report a clinically significant case of symptomatic cement pulmonary embolism resulting in shock. Case Presentation: A 68-year-old female patient with osteoporosis and a history of cement vertebroplasty two weeks prior to admission for vertebral compression fracture arrived with a three-day history of left leg swelling and shortness of breath. Vital signs revealed hypotension and the lab tests showed elevated lactate and D-dimer, mild leucocystosis, normal PCT and a threefold increase in CRP. The ultrasound confirmed complete thrombosis of the left external iliac and common femoral vein. The thoraco-abdominal CT demonstrated the extravasation of the cement from vertebroplasty to the inferior vena cava, lumbar veins, coupled with multiple cement structures in the segmental lobar pulmonary arteries. The echocardiography showed preserved right ventricular function. The management included intravenous fluids, anticoagulation and norepinephrine. Conclusions: This case underlines that cement pulmonary embolism following vertebroplasty, while typically undetected, can result in significant hemodynamic compromise even in the absence of right heart failure, potentially mediated by an inflammatory response. Importantly, it highlights the possibility of delayed clinical deterioration, with instability manifesting two weeks post-procedure—distinct from the more commonly observed immediate peri-procedural complications or other stable delayed presentation. Full article

Background and Clinical Significance: The study aims to investigate the application of the Rovatti Method^® in improving Cobb angles, angle of trunk rotation (ATR), aesthetics, and quality of life in the conservative treatment of adolescent idiopathic scoliosis (AIS); Case Presentation: The case concerns the application of the Rovatti Method^® in treating a 13-year-old girl with mild right thoracolumbar AIS. This method involves the use of elastic bands designed to guide and enhance proprioceptive and mechanical stimuli during the patient’s active self-correction exercises. The treatment lasted 7 months; a radiographic control showed an improvement in the right thoracolumbar curve, with Cobb angles decreasing from 21° to 14°, ATR from 10° to 8°, TRACE (Trunk Aesthetic Clinical Evaluation) decreasing from 8 to 4 points, and the Scoliosis Research questionnaire (SRS-22) improving from 2.27 to 3.05 points. Conclusions: Concerning this hypothesis-generating observation case, the Rovatti Method^® may represent a kinesiological approach for the treatment of AIS, potentially contributing to improvements in Cobb angles, ATR, aesthetics, and quality of life. Full article

Background and Clinical Significance: Cardiac myxomas, though typically benign and asymptomatic, can rarely present with acute cardiovascular compromise. We report a case of a left atrial myxoma presenting as acute pulmonary edema in a patient with prior normal cardiac imaging. Case Presentation: A 55-year-old male, with a history of thrombolyzed myocardial infarction and normal coronary angiography and echocardiography five years earlier, was admitted with acute dyspnea and pulmonary edema. Bedside transthoracic echocardiography (TTE) revealed a left atrial mass causing severe mitral inflow obstruction. Emergency surgical excision was performed, and the mass was submitted for histopathological analysis. Discussion: Histology confirmed cardiac myxoma. The procedure and recovery were uneventful, and follow-up at one month confirmed no recurrence. Conclusions: This case illustrates the potential for cardiac myxoma to manifest suddenly with life-threatening symptoms, even after previously normal investigations. Echocardiography remains pivotal in diagnosing intracardiac masses and guiding timely intervention. Full article

Background and Clinical Significance: Posteriorly migrated lumbar disc herniation [PMLDH] is a rare entity that may present with atypical clinical and radiological features, often mimicking other spinal pathologies. Migration of sequestered fragments through the interlaminar space is exceptionally uncommon, and diagnostic challenges are further amplified in the presence of spinal instability. While MRI and CT are generally sufficient for diagnosis, undetected lesions on preoperative imaging may complicate clinical management. Case Presentation: A 59-year-old male presented with acute low back pain and left-sided radiculopathy. Examination revealed mild motor weakness in ankle dorsiflexion. MRI showed L4–L5 segmental instability with central canal stenosis but no migrated disc fragment. Owing to neurological deficit, decompressive laminectomy with posterior instrumentation was performed. Intraoperatively, a posteriorly migrated sequestered fragment compressing the thecal sac was excised and confirmed as degenerative disc material. Postoperatively, the patient’s neurological deficit and radicular pain resolved, with no new complaints at 3-month follow-up. Conclusions: This case highlights an unusual presentation of PMLDH in a patient with lumbar stenosis and spinal instability, undetected on preoperative imaging. Recognition of the biomechanical predisposition at the L3–4 and L4–5 levels is important in understanding such rare migrations. Although literature emphasizes early surgical intervention for PMLDH, our patient required urgent surgery due to neurological deficits rather than a definitive preoperative diagnosis. Further studies are warranted to clarify the relationship between instability and posterior migration. Full article

Background: 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. Methods: 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. Results: 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 (p ≥ 0.064). Those with TD presented with a higher frequency of sleep apnea versus those without (50% vs. 18%; p = 0.038). Conclusions: 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. Full article

Background and Clinical Significance: 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. Case Presentation: 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). Conclusions: 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. Full article

Background and Clinical Significance: 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. Case Presentation: 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. Conclusions: The presented case underscores the need for early diagnosis, multidisciplinary management, and exploration of molecular profiling for therapeutic planning. Full article

Background and Clinical Significance: 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; Cases Presentation: 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; Conclusions: 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. Full article

Background and Clinical Significance: 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. Case Presentation: This case involves a previously healthy 19-year-old male who was admitted with Mycoplasma pneumonia 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 Mycoplasma pneumoniae 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. Conclusions: The presence of cold agglutinins, commonly associated with Mycoplasma 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. Full article

Background and Clinical Significance: 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. Case Presentation: Here, we report two cases of female patients diagnosed with cystinuria caused by SLC7A9 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. Conclusions: Cystine-binding thiols, including tiopronin and D-penicillamine, can both be used in the management of cystinuria in pediatric patients. Full article

Background and Clinical Significance: Triosephosphate isomerase (TPI) deficiency is a rare autosomal recessive metabolic disorder caused by a pathogenic variant in the TPI1 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. Case Presentation: We describe the case of an infant diagnosed with TPI deficiency in the context of haemolytic anaemia with progressive neurological deterioration and respiratory failure. Conclusions: 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. Full article

Background and Clinical Significance: 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. Case Presentation: 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. Conclusions: 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. Full article

Background and Clinical Significance: 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. Case Presentation: 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, mixed-case 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. Discussion: 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 attentional dyslexia, 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. Conclusions: Importantly, our results suggest that an attentional ‘dyslexia-like’ profile can be unmasked 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. Full article

Background and Purpose: 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. Methods: 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. Results: 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%; p < 0.001). In-hospital mortality rose stepwise with higher SUM_BBIS (mean 1.95 in non-survivors vs. 0.93 in survivors; p < 0.001). Conclusions: 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. Full article

Background and Clinical Significance: Carcinoid tumors are rare, slow-growing neuroendocrine cell neoplasms that typically affect the gastrointestinal tract. While metastasis may occur, it most commonly occurs in the liver, and orbital metastasis is extremely rare, especially while on systemic somatostatin suppression. Case Presentation: A 57-year-old man with a history of gastrointestinal carcinoid tumor treated with lanreotide for 5 years presented with a left proptotic, red eye and double vision for several months. Clinical examination revealed left proptosis, supraduction deficit, lower lid retraction, and dilated episcleral vessels inferiorly. Magnetic resonance imaging demonstrated a 1.8 cm enhancing lesion centered within the left inferior rectus muscle. Left orbitotomy and biopsy were performed, which confirmed metastatic carcinoid tumor. He will undergo localized orbital radiation and substitution of lanreotide with systemic chemotherapy. Conclusions: Orbital metastasis of carcinoid tumor is extremely uncommon. Given its rarity, diagnosis may be challenging. In patients presenting with ocular complaints including chronic red eye, double vision, proptosis, and mass effect with a prior history of neuroendocrine cancer, a high index of suspicion for orbital metastasis is necessary with timely workup and treatment even if the disease has been otherwise well-controlled with somatostatin analogs. Full article

Background and Clinical Significance: Left ventricular hypoplasia is often repaired surgically in sequence to a Fontan circulation, which is a physiologic state that presents unique challenges during pregnancy. Although women with Fontan physiology can achieve successful pregnancy outcomes, they remain at elevated risk for cardiac, thrombotic, and obstetric complications. Case Presentation: We describe a 38-year-old woman with Fontan physiology and acquired von Willebrand syndrome (AVWS) who was admitted at 23 weeks gestation for preterm premature rupture of membranes. The patient had history of prior classical cesarean delivery and two previous miscarriages. Her pregnancy was further complicated by abnormal placental vasculature and uterine arteriovenous malformation. Given her bleeding diathesis, hematology advised against anticoagulation or antiplatelet therapy, and she ultimately underwent a successful low transverse cesarean delivery under general anesthesia at 24 weeks. Postpartum hemorrhage was managed with clotting factor replacement and supportive care. Conclusions: This case illustrates how AVWS may mitigate thrombotic risk in Fontan physiology and how early activation of a cardio-obstetrics team can enable tailored planning. As more patients with complex congenital heart disease reach reproductive age, multidisciplinary coordination, shared infrastructure, and individualized birth plans will be essential to achieving optimal maternal–fetal outcomes. Full article

Context and objective: Post-amputation pain (PAP) is an umbrella term that includes residual limb pain (RLP) and phantom limb pain (PLP), posing a significant challenge to recovery and quality of life after limb loss. Ketamine, an N-methyl-D-aspartate (NMDA) receptor antagonist, has gained interest for its potential to manage PAP, particularly in refractory cases. This narrative review explores the efficacy of ketamine for PAP and the emerging role of pharmacogenomics in guiding its use. Methods: A literature review of PubMed, Embase, and Cochrane databases was conducted, focusing on clinical trials, systematic reviews, and genetic influences on ketamine metabolism and response. Studies suggest that perioperative ketamine can reduce PAP severity and opioid use. However, outcomes vary, with some patients experiencing transient relief and others achieving prolonged benefit. Results: This variability may be linked to genetic differences in CYP2B6, CYP3A4/5, COMT Val158Met, SLC6A2, and KCNS1, which affect ketamine’s metabolism, efficacy and side effect profile. Understanding these pharmacogenomic factors could enable more personalized and effective ketamine therapy. Conclusion: Despite its promise, inconsistent dosing regimens and limited integration of genetic data hinder standardization. Further research into genotype-guided ketamine protocols may improve treatment outcomes and support precision analgesia in amputee care. Full article

Periprosthetic joint infection (PJI) is a devastating complication of joint arthroplasty surgery that is difficult to both diagnose and treat. Misdiagnosing a prosthetic infection has terrible consequences for both the patient and healthcare system. No currently used diagnostic test fulfills the requirements to be considered a gold standard. This shortcoming has been overcome through the implementation of multi-criteria diagnostic protocols elaborated by societies including the Infectious Diseases Society of America, International Consensus Meeting and European Bone and Joint Infection Society, using a combination of clinical, paraclinical and molecular findings in order to achieve the best accuracy in diagnosing PJI. This review aims to survey the current state of the techniques and technologies used for the diagnosis of PJI, investigating the accuracies of serum biomarkers (e.g., C-reactive protein, Interleukin-6, procalcitonin, D-dimers, Serum Intercellular Adhesion Molecule-1), synovial biomarkers (e.g., Antimicrobial peptides, lipocalin-2, leukocyte esterase, calprotectin), tissue biomarkers (e.g., Toll-like receptors, CD15) and advanced molecular techniques (e.g., Polymerase chain reaction, Metagenomic next-generation sequencing), as well as describing their ongoing limitations. In the search for an accurate, inexpensive and fast diagnostic test for PJI, we conclude that the accuracies of the currently studied biomarkers could be further enhanced through the development of novel detection technologies. Full article

Background and Clinical Significance: Immune checkpoint inhibitors (ICIs) ushered in a new era in cancer treatment, but alongside their efficacy is an adverse event profile that involves the immune system as a whole and may impact several organs. Case Presentation: We present the case of a 68-year-old woman with a diagnosis of cervical cancer treated with pembrolizumab who developed progressively steroid-refractory chronic diarrhea and ensuing visual problems. Topical antibiotics failed to heal a corneal ulcer in the left eye, necessitating evisceration. Imaging showed intestinal pneumatosis without ischemia, and there was immediate clinical improvement after initiation of corticosteroid therapy. This clinical picture—steroid-dependent colitis and immune-mediated uveitis associated with secondary bacterial infection—was coded as an immune-related adverse event (irAE) resulting from ICI treatment. Because of the prompt and complete regression of the symptoms upon corticosteroid therapy, this was considered as a criterion for the final diagnosis. Conclusions: The case highlights the complexity and potential severity of irAEs that need to be appropriately identified and promptly managed by multidisciplinary teams. Full article

Background and Clinical Significance: Acute megakaryoblastic leukemia (AMKL) is a rare and aggressive hematologic malignancy. The presence of genetic abnormalities often increases the complexity of AMKL. Among these, patients with monosomy 7 constitute a high-risk group associated with a poorer prognosis and greater chemoresistance. We report the case of a 10-year-old boy who had AMKL along with monosomy 7 and familial GATA2 deficiency. The case highlights the diagnostic and therapeutic challenges faced, as well as the critical importance of early genetic screening and timely hematopoietic stem cell transplantation (HSCT). Case Presentation: A 10-year-old boy presented with easy bruising and pancytopenia. AMKL was diagnosed with the help of a bone marrow biopsy and immunophenotyping. Genetic testing showed a GATA2 mutation and monosomy 7. Two induction cycles with daunorubicin and cytarabine were administered but failed to eliminate residual disease. The patient also developed pneumonia of a fungal origin. HSCT was delayed due to liver toxicity and elevated minimal residual disease (MRD). Azacitidine and venetoclax stabilized the disease, thereby allowing for successful haploidentical HSCT. The patient achieved complete remission with full donor chimerism. Conclusions: This case emphasizes the importance of early molecular diagnostics in pediatric AMKL. Identifying GATA2 mutations and monosomy 7 early can help guide risk stratification and the timing of HSCT. Multimodal therapy, which includes the use of infection control and targeted agents, is important for improving the outcomes in high-risk patients. Full article

Background and Clinical Significance: Spinal arachnoid cysts are rare lesions that may become symptomatic through progressive spinal cord compression. We present a complex case of a thoracic extradural SAC in a 17-year-old male, managed through a stepwise, multidisciplinary approach. Case Presentation: The patient presented with progressive lower limb weakness, right knee paresthesia, and urinary hesitancy following physical exertion. MRI revealed a large posterior extradural SAC extending from T2–T3 to T8, with associated spinal cord compression. Initial management involved T8 laminectomy and cyst fenestration under intraoperative neurophysiological monitoring, with partial clinical improvement. However, early recurrence with pseudomeningocele formation prompted a second surgery, including external CSF drainage. Persistent cerebrospinal fluid (CSF) leakage led to targeted epidural blood patching, followed by temporary stabilization. Due to continued cyst enlargement and spinal cord compression, definitive surgical repair was undertaken: fistula clipping at T3 and embolization with platinum coils inside the cystic cavity, combined with a new blood patch. This novel technique resulted in radiological improvement and clinical stabilization. Conclusions: This case highlights the diagnostic and therapeutic challenges of managing symptomatic extradural SACs, particularly in young patients. Our experience underscores the utility of a staged approach involving surgical decompression, neuroimaging-guided interventions, and definitive dural repair. The combination of fistula clipping and coil embolization may offer a promising strategy for refractory cases, potentially reducing recurrence and preserving neurological function. Full article

X-linked hypophosphatemic rickets (XLH) is a rare genetic disorder with a frequency of 1:20,000, caused by mutations in the PHEX gene, resulting in impaired phosphate metabolism and bone mineralization. There is an association between hypophosphatemia and dental issues, though this link is not definitively established. This study aims to evaluate the dental status, including oral hygiene, caries prevalence, and malocclusions, as well as parental awareness of dental complications, in children with XLH in Bulgaria, particularly those receiving or about to begin burosumab treatment, and to compare their oral health status with that of healthy children. Eleven children with XLH (seven girls, four boys, aged 2.5–17 years), nine receiving burosumab, were assessed and compared with eleven age- and gender-matched healthy children (seven girls, four boys, aged 2.5–17 years) without XLH or systemic conditions affecting dental health. Parental awareness of dental implications was assessed via a questionnaire, revealing no awareness of potential complications. Oral hygiene, measured using the Oral Hygiene Index-Simplified (OHI-s), was poor in 66.67% of children, with an average of 6.45 ± 5.80 carious lesions per child, and was highest in the 11–16 age group. Malocclusions were observed in 63.64% of children, and spontaneous endodontic infections occurred in 18.18%. Compared with healthy children, patients with XLH had significantly worse oral hygiene (p = 0.013) and a higher caries prevalence (p = 0.001). Children with XLH exhibit poor oral hygiene, a high caries burden, and frequent malocclusions, compounded by a lack of parental awareness of dental risks. These findings underscore the need for targeted dental interventions and education in XLH management, including the integration of routine dental assessments and structured parental education programs into existing clinical protocols to improve oral health outcomes. Full article

Background and Clinical Significance: Heart failure with reduced ejection fraction (HFrEF) and atrial fibrillation (AF) frequently coexist, creating a complex clinical interplay that exacerbates morbidity and mortality. AF can directly precipitate or worsen HFrEF through mechanisms such as tachycardia-induced cardiomyopathy, loss of atrial contribution to ventricular filling, and irregular ventricular response. The use of evidence-based therapies improves clinical outcomes in patients with HFrEF. Case Presentation: We present a clinical case of a 58-year-old man with left bundle branch block (LBBB), tachysystolic AF, and the aforementioned induced HFrEF. The patient’s medical treatment was optimized according to recent guidelines. Subsequent to the improvements in HF treatment, the patient’s echocardiographic data showed a higher left ventricle ejection fraction (LVEF); however, it remained below 35%. Moreover, tachysystolia persisted and was not sufficiently controlled with medications. Therefore, an upgrade of the pacemaker to cardiac resynchronization therapy (CRT) following the destruction of the AV node was performed to control tachysystolic AF and worsening of HF. After the treatment adjustments, the patient’s symptoms regressed, and echocardiography showed improved LVEF up to 41%. Conclusions: This case highlights the successful identification and timely application of intensive heart rate control management and heart failure induced by AF treatment. Full article

Background and Clinical Significance: Ischemic optic neuropathies (IONs) are significant causes of vision loss resulting from compromised blood flow to the optic nerve. Diabetes mellitus (DM) exacerbates the risk of IONs through chronic hyperglycemia and associated vascular dysfunction. Recently, semaglutide, a glucagon-like peptide-1 (GLP-1) receptor agonist, has been linked to ocular complications, including non-arteritic anterior ischemic optic neuropathy (NAION), potentially due to the rapid glycemic changes or vascular effects. Case Presentation: A 55-year-old female with type 2 DM, hypertension, and hyperlipidemia presented with blurred vision and optic disc edema after four months of semaglutide therapy (Ozempic^®, Sydney, Australia). Initially diagnosed with diabetic papillopathy (DP), her condition progressed to NAION, leading to partial visual recovery with corticosteroid treatment and improved glycemic management. Diagnostic evaluations, including visual field testing, optical coherence tomography, and fluorescein angiography, supported the diagnosis. Conclusions: This case report describes the clinical course of a diabetic patient treated with a semaglutide who developed an ischemic optic event. The timing of symptom onset in relation to the initiation of semaglutide therapy raises the possibility of a causal association between the drug and this rare ocular complication. Close monitoring of ocular health is crucial for patients on GLP-1 receptor agonists, particularly those with pre-existing vascular risk factors. Further research is needed to elucidate the underlying mechanisms and guide clinical practice. Full article