This operative video report demonstrates two cases of endoscopic fenestration for enlarging symptomatic thalamic cysts causing obstructive hydrocephalus. A literature review of 29 cases (1987-2026)1-17 reveals hydrocephalus present in the majority of cases. Common presentations include headache, gait disturbance, and cognitive changes. The first case involves a 62-year-old female with progressive proprioceptive deficits and imbalance due to a 2.5 cm right thalamic cyst protruding into the third ventricle. The second case involves a 59-year-old female presenting with altered mental status and headaches from an enlarging right thalamic cyst. In both cases, a frontal transcortical endoscopic approach was utilized to fenestrate the cysts into the lateral and third ventricles in combination with an endoscopic third ventriculostomy. To ensure precise access, two separate trajectories were employed: one providing a straight-line path to the cyst wall and another to the floor of the third ventricle. Fenestration was achieved using blunt dissection and Fogarty balloon dilation, followed by further enlargement with alligator clamps. Postoperatively, both patients experienced complete resolution of symptoms and mass effect. These cases illustrate that while benign thalamic neuroepithelial cysts are rarely symptomatic10, they can be effectively treated with endoscopic fenestration. While treatment approaches in the literature vary, endoscopic or microsurgical fenestration remains the most common intervention. This technique, utilizing a high-resolution rigid endoscope coupled with stereotactic navigation and preoperative trajectory planning, allows for safe and effective treatment of these deep cystic lesions.
Kikuchi-Fujimoto disease (KFD), also known as histiocytic necrotizing lymphadenitis, is a rare, benign, and self-limited inflammatory lymphadenitis. It predominantly affects young adults and typically presents with tender cervical lymphadenopathy, low-grade fever, and constitutional symptoms such as malaise, night sweats, and weight loss. Though initially recognized in Asian populations, cases are now reported worldwide. The etiology remains uncertain, but KFD has recognized overlap with autoimmune diseases. Systemic lupus erythematosus (SLE) and Sjögren's disease (SjD) account for most coexisting disorders. We present the case of a woman in her early forties with recurrent cyclical fevers and cervical lymphadenopathy. She had biopsy-proven KFD but showed relapse after a nine-year asymptomatic period after her first manifestation. A case-based review about KFD recurrence was conducted using PubMed/MEDLINE databases following CaBArET guidelines and identified a total of 21 reports for review of the clinical manifestations and treatment approaches of recurrent KFD. Our findings suggest that although KFD is typically self-limited, recurrence may be associated with autoimmune features in selected cases, emphasizing the need for renewed diagnostic vigilance even years after apparent resolution. Although treatment responses in recurrent Kikuchi-Fujimoto disease are heterogeneous, literature evidence and our case suggest that corticosteroids remain first-line, while agents such as hydroxychloroquine or anakinra may offer benefit in steroid-dependent or relapsing cases. However, these remain individualized interventions rather than standardized protocols, and controlled evidence is lacking. Key Points • Kikuchi-Fujimoto disease, although typically self-limited, can relapse after unusually long latency, highlighting the need for continued clinical awareness. • Recurrent presentations may mimic infectious or malignant conditions, often leading to extensive diagnostic work-ups. • Reactive histologic findings at recurrence do not exclude KFD and should be interpreted in the context of prior confirmed disease and clinical evolution.
Background and Clinical Significance: Conventional hard sockets are reported to result in skin breakdown for almost half of transtibial prosthesis users. Adjustable sockets have been developed to better accommodate residual limb shape and volume changes. They have demonstrated optimal skin health in prospective adult clinical studies. Case Presentation: We present the case of a 57-year-old male with a transtibial amputation who enrolled in a research study at the University of Pennsylvania. In the year before enrollment, he experienced frequent, near-constant skin breakdown of the distal residual limb at the anterior tibia due to limb volume fluctuations and excessive pressure from a conventional hard socket and was frequently unable to use his socket due to skin breakdown. The subject was fit with an adjustable, immediate fit transtibial prosthesis (iFIT Prosthetics®). After a two-week home trial, he rated the adjustable prosthesis 62 out of 70 on an adapted Prosthetic Evaluation Questionnaire, compared with a score of 20 for his conventional prosthesis. Due to improved comfort, he discontinued the use of his conventional device. The subject was followed for over one year and wore the adjustable prosthesis exclusively without a recurrence of skin breakdown. Residual limb volume changes commonly lead to poor socket fit and skin irritation in conventionally fabricated hard sockets, often progressing to skin breakdown. In individuals with diabetes, wound healing can be prolonged and functionally limiting. In this case, an adjustable prosthesis successfully eliminated anterior tibial skin breakdown in a subject predisposed to this injury when using conventional hard sockets. Conclusions: Adjustable sockets can prevent skin breakdown in individuals with transtibial limb loss.
To explore the prevalence of discrepancies between estimated and actual orthodontic treatment duration and identify predictors of treatment delays. A total of 96 patients (62.5% female; age = 15.6 ± 6.8 years) who completed an orthodontic treatment with pre-adjusted edgewise fixed appliances between 2015 and 2023 were retrospectively included. Differences between actual and estimated treatment duration >3 months were classified as discrepancies and categorized as "overestimation" or "underestimation." Such discrepancies were compared on demographics, COVID period, and orthodontic parameters using Student's t-tests and chi-square tests, as appropriate. Predictors of underestimated treatment duration were assessed with logistic regression analysis. Actual treatment duration significantly differed from the estimated duration (26.5 ± 9.6 vs. 21.6 ± 3.6 months; P <0.001), with 65.6% cases exhibiting treatment discrepancy (P = 0.003) and 61.5% of them being underestimated (P = 0.032). Cases with underestimated durations more commonly displayed posterior crossbite (30.9% vs. 5.4%; P = 0.004), larger SNA angle (83.7 ± 3.7 vs. 78.8 ± 3.8; P = 0.005), bracket debonding (53.4% vs. 31.4%; P = 0.039; odds ratio [OR] = 2.51, 95% confidence interval [CI] = 1.04-6.04), and were most likely conducted during COVID period (33.9% vs. 10.8%; P = 0.011; OR = 4.23, 95% CI = 1.31-13.62) compared to overestimated ones. Posterior crossbite (P = 0.006) and COVID period (P = 0.007) were significant predictors of treatment underestimation. Approximately two-thirds of orthodontic treatments showed discrepancies between estimated and actual duration, with 61.5% being underestimated especially in presence of posterior crossbite and during COVID period. Why orthodontic treatment takes longer than expected?Why was this study done? People who start orthodontic treatment with braces often want to know how long their treatment will last. Knowing the expected treatment time is important because it affects motivation, comfort, and overall satisfaction. However, orthodontic treatment does not always go as planned, and treatment may take longer than expected. When this happens, patients and families may feel frustrated or disappointed. This study aimed to understand how often orthodontic treatment lasts longer than expected and why this happens. What did the researchers want to find out? The researchers wanted to find out which factors are linked to longer-than-expected orthodontic treatment time. They expected that certain bite problems or unexpected events could increase treatment length. What did the researchers do? The research team looked at 96 patients who received orthodontic treatment at a university dental clinic. For each patient, they compared the estimated treatment time given at the start with the actual time it took to complete treatment. They also looked at common features among patients whose treatment lasted longer than expected. What did the researchers find? In approximately two out of three patients, the estimated treatment time was not accurate. In most cases, treatment lasted longer than expected by about 4 months. These patients most likely had a posterior crossbite (a problem with how the back teeth fit together) or their treatments were carried out during the COVID-19 pandemic. What do the findings mean? Estimating orthodontic treatment time in advance is challenging, even for experienced clinicians. Some factors that affect treatment length cannot be predicted at the start of care. Clear communication with patients and families about the possibility of delays is needed. Setting realistic expectations will improve patient satisfaction.
Chronic graft-versus-host disease (cGVHD) is a major late complication following allogeneic hematopoietic stem cell transplantation (HSCT), in which musculoskeletal involvement, particularly isolated myositis, is extremely rare. We report a case of cGVHD-associated myositis in a man in his 40s who underwent allogeneic bone marrow transplantation from a mismatched unrelated donor for Philadelphia chromosome-positive acute lymphoblastic leukemia. The patient developed acute GVHD, which was successfully managed with corticosteroid therapy. As GVHD did not recur, corticosteroids were gradually tapered and discontinued 1 year after transplantation. Forty-three days after discontinuation, the patient developed fever and progressive myalgia, leading to hospital admission. He presented with proximal muscle weakness and marked elevation of serum creatine kinase (CK). Infectious myositis and idiopathic inflammatory myopathies were carefully excluded. Muscle biopsy demonstrated inflammatory myopathy with infiltration of CD3-positive lymphocytes, a subset of which expressed programmed cell death protein 1 (PD-1), suggesting an immune-mediated process compatible with cGVHD-associated myositis. High-dose corticosteroid therapy resulted in partial clinical improvement; however, serum CK levels showed only transient reduction and failed to achieve sustained normalization, indicating an insufficient biochemical response. The addition of ruxolitinib was associated with subsequent normalization of CK levels and sustained clinical recovery, allowing for the successful tapering of corticosteroids. This case highlights a rare manifestation of cGVHD and suggests that ruxolitinib may represent an effective therapeutic option for steroid-refractory muscular involvement after allogeneic HSCT.
Systematic reviews based on single-case experimental designs (SCED) are increasingly common in the scientific literature. However, researchers reviewing SCED research may employ varying approaches and strategies, not all of which correspond with recognized standards of review quality, including those specific to SCED. Furthermore, unique features of SCED may necessitate the development of new standards specific to research synthesis. In this article, we provide an overview of the current status and functions of systematic reviews in SCED research. We offer recommendations and guidance to novice and advanced researchers to support consistency, replicability, and transparency of systematic reviews that include SCED research.
Demodex blepharitis is a chronic inflammatory ocular condition caused by Demodex mite infestation of the eyelid that can negatively impact quality of life. Currently, lotilaner ophthalmic solution 0.25% is the only FDA-approved treatment for Demodex blepharitis. The Demodex Expert Panel on Treatment and Eyelid Health has established consensus that lotilaner ophthalmic solution 0.25% should be considered the preferred first-line treatment for Demodex blepharitis. We report a patient who presented with collarettes, the pathognomonic sign of Demodex blepharitis, meibomian gland dysfunction, and poor visual acuity. The patient also had a history of neovascular age-related macular degeneration. Consistent with the Demodex Expert Panel on Treatment and Eyelid Health consensus recommendations, the patient was treated with lotilaner ophthalmic solution 0.25%, lid scrubs, and warm compresses. At the 2-month follow-up, collarettes had resolved, and signs of meibomian gland dysfunction had improved. This case supports the Demodex Expert Panel on Treatment and Eyelid Health recommendation that lotilaner ophthalmic solution 0.25% should be considered the preferred first-line treatment for Demodex blepharitis.
Cervical cancer is the number one cause of cancer-related mortality for women in Botswana, where care is complicated by the country's severe shortage of gynecologic oncologists. Recent data suggests that "low-risk" stage I cervical cancers can be treated with simple hysterectomy (SH) rather than radical hysterectomy (RH), potentially reducing specialist burden and surgical morbidity. This case series evaluates the accuracy of clinical and image-based staging for risk stratification and examines the challenges to implementing less invasive surgery among patients with early-stage cervical cancer in Botswana. Data were retrospectively collected for patients who underwent preoperative MRI and curative surgery for cervical cancer at Princess Marina Hospital (PMH) in Gaborone from September 2022 to December 2024. All patients were FIGO stage IA1-IB2 and had not received chemotherapy or radiation prior to surgery. Descriptive analysis comparing staging across clinical diagnosis, MRI imaging, and final pathology was completed. Thirty-two patients with early-stage cervical cancer were included in this study, 15 (47%) of whom underwent RH and 17 (53%) underwent SH. Staging between MRI and final surgical pathology was concordant in 16 (50%) patients. Four patients had the same stage across clinical, MRI, and surgical staging. There were substantial delays between imaging-based staging and surgery, ranging from 27 to 151 days (median 68 days). Though patients in LMICs would stand to benefit most from less invasive cervical cancer surgery, limited reliability of staging, inadequate preoperative imaging, and delays to care complicate risk stratification and limit application of evidence favoring SH.
Ocular point-of-care ultrasound (O-POCUS) is a valuable tool in the assessment of ocular and neurological conditions. However, there is currently no standardized training or competency assessment for O-POCUS. We evaluated the effectiveness of an O-POCUS image interpretation education intervention on emergency physician diagnostic accuracy. We also determined the rate of skill development, the participant image review processes associated with a correct diagnosis, and the imaging findings associated with diagnostic error. This was a multicenter prospective cohort study conducted on an online educational intervention for O-POCUS interpretation. Participating emergency physicians deliberately practiced diagnosing 190 unique O-POCUS cases, receiving immediate feedback after every case. They practiced on as many cases as necessary to achieve a pre-defined performance standard. We enrolled 152 emergency physicians and derived 17,944 total case interpretations. From participant initial 25 to final 25 cases, there were learning gains in diagnostic accuracy (+11.3%; 95% CI 9.4, 13.2), sensitivity (+8.6%; 95% CI 6.9, 10.3), specificity (+16.1%; 95% CI 14.5, 17.7), pathology location accuracy (+12.9% 95% CI 10.9, 14.9) and specific pathological diagnosis (+18%; 95% CI 15.2, 20.7). Of the 125 participants with analyzable data, 94 (75.2%) achieved the performance standard in a median of 94 cases (IQR 64, 132) or 29 min (IQR 19.7, 40.7). Participants had lower odds of correct diagnosis when they spent less time reviewing a case (OR = 0.96; 95% CI 0.94-0.98), but higher odds when they were certain of their response (OR = 4.25; 95% CI 3.73-4.84). The imaging findings most at risk of diagnostic error were ocular masses, cataracts, and indicators of raised ICP. This study demonstrates that an online and performance-based education intervention can meaningfully improve O-POCUS image interpretation among emergency physicians and identifies sonographic pathology prone to diagnostic error.
Police violence is increasingly recognized as a public health crisis, disproportionately affecting Black, Indigenous, and other communities of color due to long-standing patterns of racialized surveillance and disinvestment. Environmental stressors such as heat have also been linked to increased aggression, stress reactivity, and violence, suggesting that as climate change drives more frequent and intense extremes in temperature, these conditions may amplify existing risks of fatal police encounters. This study evaluated whether extreme ambient temperatures were associated with fatal police violence and whether structural neighborhood deprivation modified this relationship. Our nationwide case-crossover analysis examined daily maximum temperature and fatal police violence in the United States (2013-2024) using data from Mapping Police Violence. We estimated odds ratios across percentiles of the temperature distribution and analyses were stratified by neighborhood-level measures of deprivation, using Index of Concentration at the Extremes metrics for education, income, racialized income, and homeownership. Our main analysis revealed that compared to the median temperature (23.5 °C), the odds of fatal police violence at the 5th temperature percentile were reduced by 12% (95 percent CI: 0.806 to 0.955), while the odds at the 99th percentile were increased by 11% (CI: 1.037 to 1.185). While there was limited evidence of effect modification by neighborhood deprivation metrics, we found neighborhoods with higher levels of deprivation were disproportionately burdened by fatal police violence. These findings highlight the importance of temperature as a determinant of fatal police violence, suggesting that policies that address neighborhood deprivation and fatal policing may be needed on a warming planet.
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A higher frequency of valvular heart disease is seen among Systemic Sclerosis (SSc) patients. Advanced aortic valve stenosis leads to significant morbidity in these patients with multiple other comorbidities. In this study, we aim to define the short- and long-term outcomes of transcatheter aortic valve replacement (TAVR) procedures in SSc patients. We undertook a retrospective chart review of all patients with SSc who underwent a TAVR procedure at our institution over a defined 11-year period. Demographics as well as short- and long-term outcomes were identified. Fourteen SSc patients underwent a TAVR procedure between 2012 and 2023. They were predominantly older Caucasian female patients with limited cutaneous SSc (lcSSc) with advanced aortic stenosis. Only one patient had a readmission within 30 days due to post-op heart failure and subsequently had to have the TAVR reversed to a SAVR. TAVR is a well-tolerated procedure in SSc patients with advanced aortic stenosis and multiple comorbidities.
Dermatofibrosarcoma protuberans (DFSP) is a rare, low-grade cutaneous sarcoma with a high local recurrence rate but low metastatic potential. The myxoid subtype of DFSP is exceptionally rare, and its occurrence with giant cell fibroblastoma features, particularly in adults, is even more uncommon, presenting diagnostic challenges. We describe a 32-year-old man with a myxoid DFSP exhibiting giant cell fibroblastoma features. The diagnosis was confirmed by immunohistochemistry and fluorescence in situ hybridization (FISH) for PDGFB rearrangement. This report highlights the diagnostic challenges in this rare entity and emphasizes the importance of molecular confirmation.
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Craniofrontonasal syndrome displays an unusual X-linked dominant inheritance pattern due to pathogenic variants in EFNB1, which encodes a membrane-bound ligand for the ephrin receptor. Females exhibit a more severe phenotype than males and can have craniosynostosis, hypertelorism, craniofacial asymmetry, thoracic skeleton abnormalities, and an assortment of other features. Males typically only develop a milder hypertelorism, or they have no discernable features at all. Exome sequencing was used to identify a likely pathogenic EFNB1 c.129-2A>G splice site variant in an individual who had facial dysmorphology. We describe a 14-year-old female from an underserved Caribbean population who had facial dysmorphology, microcephaly, and mild intellectual disability. She also had an uncorrected craniosynostosis that was diagnosed during clinical examination. The craniofrontonasal syndrome in the individual presented in this report is explained by the EFNB1 variant. The affected individual did not have surgical correction of her craniosynostosis, which might have contributed to her development of microcephaly and mild intellectual disability.
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ContextRosai-Dorfman disease is a rare histiocytic disorder that primarily affects lymph nodes but may present at extranodal sites. Breast involvement is exceptionally rare and often mimics malignancy on clinical and imaging studies, leading to diagnostic challenges.ObjectiveTo describe the clinical, radiologic, and pathologic features of breast Rosai-Dorfman disease and review management outcomes.DesignWe retrospectively reviewed all instances of breast Rosai-Dorfman disease diagnosed at our institution over a 14-month period. Clinical records, imaging studies, histopathology, treatment, and follow-up data were analyzed.ResultsA total of three patients were diagnosed with Rosai-Dorfman disease of the breast. All three patients were women aged 22 to 71 years. Two presented with palpable breast masses, and one patient had a mass that was incidentally detected on chest computed tomography. Imaging demonstrated irregular masses categorized as Breast Imaging Reporting and Data System (BI-RADS) category 4-5, suspicious for carcinoma. Histopathologic examination showed dense lymphoplasmacytic infiltrates with histiocytes exhibiting emperipolesis and immunoreactivity for S100, CD68, and CD163, with negative CD1A staining. Two patients underwent excision, and one was managed conservatively. At follow-up, all patients remained disease-free without recurrence or systemic involvement.ConclusionsBreast Rosai-Dorfman disease is a rare benign entity that closely mimics carcinoma both clinically and radiologically. Accurate diagnosis relies on histopathologic evaluation with immunohistochemistry. Management may range from observation to surgical excision depending on lesion size and symptoms. Awareness of this presentation is essential to prevent misdiagnosis and overtreatment.
To characterize the surgical management and outcomes of large high myopic macular holes (HMMHs). Global multicenter retrospective case series of HMMHs with minimum linear diameter (MLD) ≥ 400 μm undergoing surgery between 2013-2023 with follow up ≥ 3 months. The main outcome measure was the HMMH closure rate at postoperative month 3. 499 cases of 463 patients from 37 surgeons were included, with mean ± SD age 58.3 ± 12.2 years, 77.0% female, 77.4% primary, 22.6% refractory, and mean ± SD follow-up 18.8 ± 20.2 months. The mean ± SD (range) MLD was 649 ± 280 (400, 2759) µm. Surgery techniques included 127 internal limiting membrane (ILM) peels, 285 ILM flaps, 19 amniotic membrane transplantations (AMT), 36 autologous retinal transplantations (ART), and 32 others. The postoperative month 3 closure rate for all cases was 72.4%. Closure rates significantly decreased with greater CLOSE Study Group size classification for HMMHs treated with ILM peeling or ILM flap (P = 0.006) but not for HMMHs treated with AMT or ART (P > 0.05). Visual acuity (VA) significantly increased from baseline to each follow-up time point among all eyes, with final mean ± SD change in VA of -0.29 (0.55) logMAR (+14.5 ETDRS letters), which did not significantly differ by surgery type. HMMH closure rates are lower than those reported for macular holes in non-highly myopic eyes, but most eyes can still achieve anatomic closure and meaningful VA gains when treated with the appropriate technique.
Intravenous drug use (IVDU) is strongly associated with severe infections including abscesses, endocarditis, necrotizing fasciitis, and osteomyelitis. When untreated, acute osteomyelitis can progress to chronic disease with biofilm-mediated antimicrobial resistance, soft tissue necrosis, and eventual limb loss. Reports of extreme cases requiring major amputation remain uncommon in the literature. We report the case of a 32-year-old female with a history of substance use disorder who presented with a chronic right forearm wound after more than one year without definitive treatment. Despite prior medical recommendations for amputation, the patient declined intervention and was lost to follow-up. She re-presented with worsening pain, soft tissue necrosis, exposed bone, and a pathological fracture. Operative management included a transhumeral amputation with confirmation of acute osteomyelitis and osteonecrosis on pathology. This case highlights the clinical and social challenges of managing chronic osteomyelitis in patients with IVDU, including delayed care, limited adherence, and high rates of antimicrobial resistance. Optimal management requires a multifaceted approach combining aggressive surgical debridement or amputation with systemic and local antibiotic therapy. Emerging treatment frameworks, such as the Philadelphia Treatment Algorithm for Xylazine-Associated Wounds, provide evidence-based guidance for similarly complex infections. Patients with substance use disorder are at increased risk for devastating complications of chronic osteomyelitis, including limb loss. Early recognition, structured treatment algorithms, multidisciplinary management, and integration of addiction treatment are critical to improving outcomes in this vulnerable population.