
Abstract Neurofibromatosis type 1 (NF1) is a common autosomal dominant disorder characterized by multiple benign peripheral nerve sheath tumors, known as neurofibromas. While these typically involve cutaneous and subcutaneous tissues, breast parenchymal involvement is exceptionally rare. We present the case of a 51-year-old woman with genetically confirmed NF1 who developed multiple palpable masses in both breasts and axillary regions. Ultrasound demonstrated well-circumscribed hypoechoic lesions within the breast parenchyma and pectoral muscles, while magnetic resonance imaging (MRI) revealed lobulated, T2-hyperintense, mildly enhancing masses. A core needle biopsy of the largest axillary lesion confirmed myxoid neurofibroma. Further imaging showed systemic involvement. Genetic analysis revealed a rare pathogenic NF1 mutation, not previously reported in the literature. This case highlights the uncommon presentation of multifocal myxoid neurofibromas in the breast and axillary region and underscores the value of ultrasound and MRI in diagnosis and surveillance.
Abstract Background: Ultrasound-guided hydrodissection (UGHD) of the median nerve within the carpal tunnel is an emerging treatment for mild-to-moderate carpal tunnel syndrome (CTS). There are no prospectively conducted studies in the Indian context. Therefore, we aimed to evaluate the effectiveness of UGHD of the median nerve using two readily available agents (triamcinolone and 5% dextrose [5% D]) and compare it with medical management (MM) in mild-to-moderate CTS. Methods: This prospective, exploratory study enrolled and randomized subjects into the MM (pregabalin alone), the 5% D (UGHD with 5 ml of 5% D), and the triamcinolone (UGHD with 5 ml of diluted triamcinolone) groups. Symptom severity (SSS) and functional severity (FSS) scores were assessed at baseline, 4 weeks, and 8 weeks. Nerve conduction study (NCS) and nerve cross-sectional area (CSA) at the inlet were measured at baseline and 8 weeks. Results: Seventy-five CTS hands from 49 subjects were included: MM (31), triamcinolone (21), and 5% D (23). The SSS improved at 4 weeks in all groups. While the score improved further beyond 4 weeks in MM, it remained static in both UGHD groups. The FSS improved in both UGHD groups at 4 weeks and remained unchanged at 8 weeks. Triamcinolone improved SSS more effectively than 5% D. Triamcinolone also improved NCS parameters and CSA. Conclusion: UGHD of the median nerve with either 5 ml of diluted triamcinolone or 5% D is a comparable and feasible treatment option for mild-to-moderate CTS. However, these results require validation in larger, adequately powered trials.
Abstract Background: Anatomical characteristics and landmarks are of overarching importance for many surgical procedures. The anatomical characteristics of the medial femoral condyle are of great clinical relevance, since they include the origin and attachment surfaces of many knee joint stabilizing structures. The surgical repair technique of the medial patellofemoral ligament (MPFL) with X-ray assistance has been described as a difficult method due to uncertain femoral placement. This study aimed to determine the diagnostic value and applicability of ultrasound for the femoral origin and landmark definition of the MPFL. Methods: To evaluate anatomical landmarks of the MPFL attachment area, a linear ultrasound probe with musculoskeletal pre-set was used to determine the identifiability, size, and special relationship of the adductor tubercle and the medial femoral epicondyle (ME). Measurements were carried out in 30 knee joints of healthy adult participants ( n participants = 15). Intra- and interobserver reliability were assessed within three different measurement time points and between two investigators . Results: The ME could be visualized in 94.5% and the tuberculum adductorium in 99.4% of all cases. Intrarater reliability was assessed with an intraclass correlation coefficient (ICC) score of 0.96. Interrater reliability demonstrated an ICC score of 0.94 for the measured mean values. Conclusion: Ultrasound seems to be an applicable and useful noninvasive tool to reliably identify the MPFL attachment area using the adductor tubercle and the ME as bony landmarks. Our findings emphasize the potential role of ultrasound in the assessment of bony anatomical landmarks, offering implications for MPFL reconstruction techniques.
Abstract Unicornuate uterus with a rudimentary horn is a Müllerian duct anomaly resulting from the incomplete development of one Müllerian duct. Pregnancy within a rudimentary horn is rare and potentially catastrophic, with a high risk of uterine rupture and maternal morbidity if diagnosis is delayed. Early detection using ultrasonography (USG) and magnetic resonance imaging (MRI) is therefore crucial. We report the case of a 24 year old female who presented after 20 weeks of amenorrhea with nonperception of fetal movements. Imaging revealed fetal demise in an ectopic pregnancy located within a noncommunicating rudimentary horn of a unicornuate uterus, diagnosed using USG and MRI. Imaging modalities such as USG and MRI, combined with a high index of clinical suspicion, play a pivotal role in the accurate diagnosis of rudimentary horn pregnancy and in preventing life threatening complications.
Abstract Spinoglenoid notch ganglion cysts, also known as paralabral cysts, are most commonly associated with labral tears or posterior shoulder capsule insufficiency that can compress the suprascapular nerve (SSN) in the spinoglenoid notch, leading to posterior shoulder pain. These mucin-filled cysts can also present symptoms of glenohumeral joint instability, as well as pain and/or weakness of the infraspinatus muscle. Traditionally, management involves magnetic resonance imaging (MRI) based diagnosis, followed by surgical repair of the underlying pathology and cyst removal. However, less invasive treatments, such as ultrasound-guided cyst aspiration and corticosteroid injection, have shown promising results. We present the case of a 38-year-old male who developed right posterior shoulder pain, and later, with MRI, a spinoglenoid notch ganglion cyst was found compressing the SSN. The patient opted for a nonsurgical approach, undergoing ultrasound-guided aspiration followed by corticosteroid injection. This intervention led to significant pain relief and functional improvement, demonstrating the efficacy of minimally invasive treatment for this condition.
Abstract Background: This prospective study aims to establish normal baseline values for intracranial venous Doppler velocities in neonates, assess the stability of these values across different health conditions, and evaluate the feasibility of Doppler ultrasonography in neonatal cerebral venous assessment. Methods: We conducted Doppler ultrasound evaluations of key cranial venous structures in 80 neonates, including healthy term infants, preterm otherwise healthy neonates, and neonates with preterm brain injury. The venous structures assessed included the internal cerebral veins (ICV), vein of Galen (GV), straight sinus (SS), and superior sagittal sinus (SSS). Quantitative analysis of blood flow velocities was performed, and pulsatility patterns were examined in cases of intraventricular hemorrhage (IVH) and children with ventricular dilatation. Results: The study successfully visualized major cranial venous structures in nearly all cases, with healthy term neonates showing mean velocities of 5.14 ± 1.2 cm/s for ICV, 8.42 ± 1.2 cm/s for GV, 17.18 ± 4.57 cm/s for SS, and 14.4 ± 3.91 cm/s for SSS. No significant differences in venous velocities were observed between healthy, preterm, and brain injury groups, suggesting that venous flow is relatively stable across these conditions. Pulsatility analysis did not reveal abnormal patterns in IVH cases, although flat waveforms were observed in children with ventriculomegaly, potentially due to elevated intracranial pressure. Conclusion: This study establishes reliable normal values for neonatal intracranial venous Doppler velocities and demonstrates the feasibility of using Doppler ultrasound for cerebral venous assessment in neonates. The findings suggest that venous flow velocities are not significantly altered by prematurity or brain injury.
Abstract Background: This study aimed to evaluate the relationship between thyroid nodule size and various factors and malignancy risk, using fine-needle aspiration cytology (FNAc) as the diagnostic standard. Methods: A retrospective analysis was conducted on 760 patients with 850 thyroid nodules who underwent ultrasound (US) and US-guided FNAc from June 2023 to July 2024. Nodules were assessed using the ACR-Thyroid Imaging Reporting and Data Systems (TIRADS) classification and classified cytologically according to the 2017 Bethesda System. Statistical analyses included logistic regression to evaluate the association between variables and malignancy risk. Results: Malignant nodules were predominantly observed in TIRADS category 5 (72.7%), while benign nodules were more frequent in categories 3 and 4. Higher TIRADS scores were significantly associated with malignancy, each unit increase in score was associated with a 5.86 – fold increase in odds ( P = 0.0001). Malignancies were more common in younger patients, with risk decreasing by 2% per additional year of age ( P = 0.028). Nodule size was not an independent predictor of malignancy. Conclusion: TIRADS is an effective tool for predicting thyroid malignancy and stratifying risk, aiding clinical decision-making. Younger age is a significant risk factor, while nodule size alone should not be used as a predictor of malignancy.
Abstract Congenital adrenal hyperplasia (CAH) is an autosomal recessive disorder most commonly caused by 21-hydroxylase deficiency. Testicular adrenal rest tumors (TARTs) are a known complication of CAH, especially in males with poor hormonal control. We report the case of a 21-year-old male with simple virilizing CAH who developed bilateral TARTs and a left adrenal mass with internal hemorrhage, highlighting the importance of early diagnosis, hormonal monitoring, and imaging in disease management.
Abstract Proximal median neuropathy after arterial catheterization is rare and may present with misleading clinical features. We report a 50-year-old man who developed isolated index-finger flexion weakness following brachial arterial line insertion. Electrodiagnostic studies were contraindicated. Ultrasonography revealed focal median nerve enlargement with a fascicular-level intraneural hematoma. Ultrasound-guided hydrodissection using 5% dextrose water resulted in clinical improvement and hematoma reduction. This case highlights the diagnostic and therapeutic value of ultrasonography in identifying selective fascicular injury and guiding minimally invasive treatment when electrodiagnostic evaluation is not feasible.
Abstract Periventricular nodular heterotopia (PVNH) is a malformation of cortical development. In this study, we present two cases of PVNH that showed a nonspecific prenatal phenotype. In Case 1, routine anatomical scanning revealed fetal mega cisterna magna (MCM) with a normal vermis at 23 weeks’ gestation. Chromosomal microarray analysis detected a pathogenic deletion of 256 kb at Xq28 encompassing the haploinsufficient FLNA gene. Family studies confirmed the presence of this deletion in the mother, who exhibited cardiac defects and bilateral PVNH but demonstrated normal psychomotor and cognitive development. In Case 2, second-trimester ultrasound examination showed fetal MCM alongside a normal vermis at 22 weeks’ gestation. No additional anomalies were observed on follow-up ultrasounds until term was reached. At 4 months old, the child experienced seizures with PVNH. The genetic evaluation identified a de novo pathogenic splicing variant c.7757-2A>C in FLNA . Our study indicates that while MCM is considered nonspecific, it is crucial to recognize its potential coexistence with PVNH-an association that may manifest later during pregnancy or after birth.
Abstract Background: Rheumatoid arthritis (RA) is a chronic autoimmune disease characterized by synovial inflammation and progressive joint damage. Accurate assessment of disease activity is essential for clinical management. This study aimed to explore the clinical value of shear wave elastography (SWE) combined with a simplified ultrasound joint score in evaluating RA activity. Methods: According to the disease activity score 28 (DAS28) score, the patients were divided into four groups: remission group, low activity group, moderate activity group, and high activity group. All patients were evaluated by the simplified ultrasound joint scoring system, and the shear wave velocity (SWV) of the synovial area was measured in combination with SWE. The correlation between SWV value, simplified ultrasound joint score, and DAS28 score was evaluated by Pearson correlation analysis. At the same time, the receiver operating characteristic curve was used to analyze the sensitivity, specificity, and clinical efficacy of SWE combined with simplified ultrasound joint score in assessing RA activity and compared with a single evaluation method. Results: The area under the curve (0.846) of SWE combined with the simplified ultrasound joint score for assessing RA activity was higher than that of the simplified ultrasound joint score or SWE alone. Conclusion: The evaluation method of SWE combined with simplified ultrasound joint score is a direction worth exploring in the activity assessment of RA.
Abstract Background: Diabetic kidney disease (DKD) is a major complication of diabetes and a leading cause of end-stage kidney disease. Renal fibrosis worsens the prognosis of DKD. While biopsy is the gold standard for assessing fibrosis, noninvasive alternatives like elastography – which measures tissue stiffness – are promising. This study aimed to evaluate renal cortical stiffness in patients with diabetes using shear wave elastography (SWE) and assess its diagnostic value compared to conventional ultrasound. Methods: A case–control study was conducted at Beni Suef University Hospital between October 2023 and April 2024, including 30 patients with diabetes and 30 age-and sex-matched healthy controls. Participants underwent clinical evaluation, laboratory tests (including hemoglobin A1C [HbA1c], serum creatinine, albumin/creatinine ratio), and renal ultrasound with SWE. SWE measurements were taken from both kidneys, and mean stiffness values were calculated. Statistical analysis included t -tests, receiver operating characteristic (ROC) curve analysis, and correlation assessments. Results: Conventional ultrasound parameters showed no significant differences between cases and controls. However, SWE values were significantly higher in patients with diabetes (mean SWE: 12.90 ± 1.23 kPa) compared to controls (9.71 ± 0.88 kPa, P < 0.001). ROC analysis revealed excellent diagnostic accuracy for mean SWE (area under the curve = 0.998), with 96.67% sensitivity and 100% specificity at a cut-off of 10.95 kPa. SWE values strongly correlated with diabetes duration, HbA1c, fasting glucose, creatinine, and albumin/creatinine ratio ( P < 0.001). Conclusion: SWE is a highly sensitive, noninvasive tool for detecting early renal changes in patients with diabetes, with superior diagnostic performance to conventional ultrasound.
Abstract Background: Carotid intima-media thickness (CIMT) and bone mineral density (BMD) are key markers of vascular and skeletal health, respectively. While each has been linked to cerebrovascular disease individually, their combined effect remains unclear. This study assessed the independent and interactive roles of CIMT and BMD in cerebrovascular disease among asymptomatic adults undergoing health screening. Methods: We retrospectively analyzed data of 1447 participants who underwent CIMT measurement, BMD testing, and brain magnetic resonance (MR) imaging with MR angiography at a general hospital between January 2020 and March 2022. Multivariable logistic regression was employed to assess associations, adjusting for age, sex, hypertension, diabetes mellitus, smoking status, and hyperlipidemia. Stratified analysis was conducted according to BMD categories. Results: Increased CIMT, older age, hypertension, and diabetes were independently associated with cerebrovascular disease. Compared with those with CIMT <0.8 mm, participants with CIMT 0.8–1.0 mm and ≥1.0 mm had progressively higher risks for developing cerebrovascular disease (odds ratios [OR] 3.82 and 5.70, respectively; both P < 0.001). In the stratified analysis, the association between CIMT and cerebrovascular disease was amplified in the lower BMD groups, with the OR associated with a CIMT ≥1.0 mm rising from 3.81 in the normal BMD group to 7.10 and 12.36 in the osteopenia and osteoporosis groups, respectively. Conclusion: Increased CIMT and lower BMD were significantly associated with cerebrovascular disease. CIMT, which can be measured noninvasively, may serve as a predictive marker in health screenings for individuals with low BMD.
Abstract Mummified thyroid nodules are benign lesions that decrease in size over time but may resemble papillary thyroid carcinoma on imaging examination. We reviewed five representative cases and evaluated both clinical imaging findings and changes in the American College of Radiology Thyroid Imaging Reporting and Data System (ACR-TIRADS) classification. Based on initial examination, all thyroid nodules were likely benign. However, all nodules shrank over time, achieving TR5 according to ACR-TIRADS, resulting in a diagnosis of malignancy. Cytological examinations were performed on all nodules during their clinical course, with results of class II or I, and no findings suggestive of malignancy. Benign thyroid nodules are unlikely to shrink during malignant transformation. Therefore, if previous imaging findings confirm a significant reduction in nodule size, a more cautious approach should be taken, potentially avoiding fine-needle aspiration cytology. This approach may not only reduce excessive cytological examinations and unnecessary follow-up but also contribute to improved diagnostic performance.
Abstract Maintenance hemodialysis (MHD) patients face significant challenges, including high cardiovascular risk and vascular access complications. Ultrasound has emerged as a vital, noninvasive tool for managing these aspects of care. Despite its utility, limitations such as operator dependency and a lack of standardized protocols persist, hindering optimal clinical integration. This narrative review aims to summarize the current applications of ultrasound in hemodialysis management and explore future technological and therapeutic innovations. The review outlines ultrasound’s roles in evaluating cardiovascular function, establishing and monitoring vascular access, guiding dialysis procedures, and assessing dynamic volume status. It also highlights emerging perspectives, including artificial intelligence (AI)-assisted analytics, portable devices, super-resolution imaging, and multimodal fusion that promise to enhance diagnostic precision and accessibility. Furthermore, emerging therapeutic roles of ultrasound in alleviating MHD-related symptoms such as sarcopenia and neurological dysfunction are discussed. In conclusion, ultrasound is essential for personalized hemodialysis care. Future efforts should focus on validating AI tools, refining real-time monitoring, and streamlining clinical integration to improve patient outcomes.
Abstract Suprainguinal fascia iliaca (SIFI) block anesthetizes the lateral cutaneous and femoral nerves. The addition of pericapsular nerve group (PENG) which blocks the hip articular nerves may enhance its efficacy while decreasing local anesthetic (LA) volume. Both blocks may be performed through the single entry point at anterior inferior iliac spine. This prospective observational study assessed the technical feasibility of a novel single-puncture PENG-SIFI block (SP PENG-SIFI-B) in 30 consenting adult patients undergoing proximal femoral nailing for intertrochanteric fracture. PENG block was performed with 15 mL LA (0.2% ropivacaine and clonidine 15 μg). The probe was rotated by 90º to perform SIFI block using 25 mL of the same mixture. The primary outcomes included the visibility of anatomic targets in PENG and SIFI planes and the possibility of needle maneuverability after redirecting from PENG to the SIFI plane. We could identify the PENG plane in 83% of cases and SIFI plane in all patients ( P < 0.001). Successful LA spread was observed in a significantly higher number of cases in the SIFI plane (100% vs. 83%; P < 0.001). Probe rotation from the axial to the longitudinal direction was completed in all cases (100%). A lateral shift was necessary in 78%, while a medial shift was needed in 22%. SP PENG-SIFI-B technique that combines the PENG and SIFI blocks with a single needle puncture, has utilized relatively low volumes of LA; the potential for volume reduction warrants validation in future comparative studies. Based on our findings, we recommend SP PENG-SIFI-B for postoperative analgesia following hip surgeries. Success rates may vary depending on operator experience.