Underlying Subclavian Artery Occlusion Initially Misdiagnosed in Weightlifter Using Anabolic Steroids: A Case Report and Review of Literature

Subclavian artery occlusion (SAO) is a rare form of peripheral artery disease, sometimes associated with arterial thoracic outlet syndrome (ATOS). Subclavian arterial and venous occlusions are often misdiagnosed initially, and their clinical presentation can be confusing in bodybuilding athletes with increased vascularity in combination with anabolic steroid use. We present a 63-year-old male weightlifter with a history of hypertensive cardiomyopathy, renal transplant with left upper extremity arteriovenous fistula and subsequent takedown, cervical spinal stenosis, left rotator cuff surgery, and decades of testosterone injections who presented with years of left shoulder and neck pain. After having seen multiple providers and being diagnosed with various common disorders, CT angiography and conventional angiography were eventually performed and confirmed the presence of chronic SAO. The chronic occlusion was not deemed amenable to surgery or endovascular intervention and was treated medically with anticoagulation. Although anabolic steroid use is associated with arterial thrombosis, to our knowledge, this is the first reported case of SAO in a weightlifter. Initial misdiagnosis resulted in a long and costly workup. Although the patient's symptoms were consistent with occlusion (and his increased vascularity could potentially suggest chronic thrombosis of any kind), these key signs were masked given his weightlifting history, anabolic steroid use, and concurrent degenerative musculoskeletal conditions common to the weightlifting population. A thorough history, comprehensive physical examination, appropriate imaging studies, and a high index of suspicion for vascular occlusion in athletes who use steroids are critical for the timely diagnosis and treatment of SAO

Updates in the management of unknown primary of the head and neck

Squamous cell carcinoma (SCC) from an unknown primary tumor (SCCUP) accounts for 2.0%-5.0% of all head and neck cancers. SCCUP presents as enlarged cervical lymph nodes without evidence of a primary tumor upon physical examination. Primary site detection is important to target treatment and avoid treatment-related morbidity. In this review, we discuss updates in SCCUP management. Diagnostic workup should focus on localization of the primary tumor in SCCUP. Initial workup centers on neck biopsy to confirm the presence of SCC. Given the increasing incidence of HPV-related SCC in the oropharynx, HPV testing is crucial. An HPV-positive status can localize the tumor to the oropharynx, a common site for occult tumors. Imaging includes neck CT and/or MRI, and PET/CT. After imaging, panendoscopy, palatine tonsillectomy or diagnostic transoral robotic surgery can facilitate high rates of primary tumor localization. Primary tumor localization influences treatments administered. SCCUP has traditionally been treated aggressively with large treatment fields to all potential disease sites, which can induce weight loss and swallowing dysfunction. As a result, primary localization can reduce radiation fields and provide possible de-escalation to primary surgical management. Advances in intensity-modulated radiation therapy and dose management also have the potential to improve functional outcomes in SCCUP patients. Given the improved prognosis associated with HPV-positive SCCs, HPV tumor status may also inform future treatment de-intensification to reduce treatment-related toxicity

Intramuscular Degloving Injury of the Rectus Femoris From Kickball: A Case Report and Review.

Intramuscular degloving injuries (IDIs) are a rare and unique type of muscle injury where there is a dissociation between the inner and outer components of a particular muscle. This type of injury is seen exclusively within the rectus femoris (RF) muscle due to its unique muscle-within-a-muscle anatomy and represents 9% of RF injuries. Despite the significance of this injury, limited knowledge exists regarding the mechanism, management, and prognosis of IDIs, and IDIs are not currently included among the various muscle injury classifications. We present a 38-year-old active male with a one-week history of acute onset right anterior mid-thigh pain and palpable lump after playing kickball. Right thigh MRI revealed an IDI of the RF muscle, edema within the inner and outer muscular portions of the muscle, and a retraction of the torn inner indirect myotendinous complex of the RF. He was managed with physical therapy while being advised to avoid aggressive quadriceps contractions, high-intensity, or high-impact exercise. This is the first reported case of an IDI that occurred in an older recreational athlete (versus young competitive athletes), and the first case of an IDI in a kicking sport other than soccer (kickball). This case emphasizes the importance of a broader awareness of this injury, and a heightened index of suspicion is advised in assessing potential IDIs to improve patient prognosis and rehabilitation. Given the limited understanding and rarity of this injury, we also provide a comprehensive review describing the IDI to the RF

The Rate of Occult Lesion Diagnosis in a Large Bells Palsy Cohort.

OBJECTIVES: We characterize occult lesion diagnosis rates after initial Bells palsy diagnoses. METHODS: A de-identified database of all facial palsy patients who presented to an extensive health care system across 22 years was created using Epic SlicerDicer. Among patients with Bells palsy diagnoses, we extracted demographic and any subsequent occult lesion diagnosis data across various clinical sites. Descriptive and multivariable regression analyses comparing patients with occult lesion diagnoses made at different time points were included. RESULTS: Among the total 3912 facial palsy patients, 2240 had Bells palsy diagnoses, of which 217 (9.7%) had subsequent lesion diagnoses at a median (IQR) of 12.3 (4.2, 23.8) months, consisting of cranial nerve neoplasms (62.2%), parotid gland neoplasms (34.1%), and cholesteatomas (3.7%). Although a large proportion of total lesions were diagnosed within the first 3 months (19.8%), 69.5% were diagnosed after 6 months. There were no demographic differences among patients diagnosed with different lesion types, but Asian patients were more likely to be diagnosed with occult lesions after 12 months after Bells palsy diagnosis compared with white patients (odds ratio = 6.2, p = 0.001). CONCLUSIONS: In one of the largest Bells palsy cohorts to date, we identified a 9.7% occult lesion diagnosis rate at a median of 12.3 months after Bells palsy diagnosis. These data underscore the importance of timely workup for occult lesions in cases of facial palsy with no signs of recovery after 3-4 months. LEVEL OF EVIDENCE: 4 Laryngoscope, 134:911-918, 2024

Early Improved Functional Outcomes in Head and Neck Cancer Patients with Primary Tumor Detection

ObjectivesWe characterize functional outcomes in head and neck cancer of unknown primary (CUP) based on primary site identification.MethodsIn this retrospective study, CUP cases were categorized as known primaries (KP) if a tumor was localized after diagnostic workup or persisting unknown primaries (UP). Age, sex, HPV status, diagnostic methods, and treatments regimens were collected. Pretreatment and short-term posttreatment (3-6 months after completion of treatment) weights, PHQ-9, Eating Assessment Tool (EAT-10), and Voice Handicap Index (VHI-10) scores were compared between UP and KP.ResultsAmong 67 CUP patients, 35 (52.2%) had identified primaries (91.4% oropharyngeal and 8.6% nasopharyngeal). KP patients were younger (58 vs. 64, p = 0.04) and more likely to be HPV-positive (88.6% vs. 50%, p = 0.002). Overall detection rates were 16.7% for PET/CT, 34.7% for direct laryngoscopy, and 46.6% for transoral robotic oropharyngectomy. Diagnostic workup was not significantly different between groups. Patients with KP received smaller intermediate radiation dose volumes (436.5 vs. 278.9 cc, p = 0.03) and lower doses to the cricopharyngeal muscle (41.6 vs. 24.6 Gy, p = 0.03).Pretreatment weights, PHQ-9, EAT-10, and VHI-10 scores did not differ between groups. However, posttreatment, UP had greater relative weight loss (-14.1% vs. -7.6%, p = 0.032), higher EAT-10 scores (12.5 vs. 3, p = 0.004), and higher PHQ-9 scores (6 vs. 1.4, p = 0.017). Specifically, UP reported more stressful swallowing, difficulty swallowing solids and pills, and swallowing affecting public eating.ConclusionKP patients experienced less weight loss, depression, and reduced swallowing dysfunction, highlighting an early functional benefit of primary tumor identification likely driven by reduced radiation treatment volumes.Level of evidence4 Laryngoscope, 134:701-707, 2024

Autophagic Degradation of NBR1 Restricts Metastatic Outgrowth during Mammary Tumor Progression

Although autophagy is being pursued as a therapeutic target in clinical oncology trials, its effects on metastasis, the principal cause of cancer mortality, remain unclear. Here, we utilize mammary cancer models to temporally delete essential autophagy regulators during carcinoma progression. Though genetic ablation of autophagy strongly attenuates primary mammary tumor growth, impaired autophagy promotes spontaneous metastasis and enables the outgrowth of disseminated tumor cells into overt macro-metastases. Transcriptomic analysis reveals that autophagy deficiency elicits a subpopulation of otherwise luminal tumor cells exhibiting basal differentiation traits, which is reversed upon preventing accumulation of the autophagy cargo receptor, Neighbor to BRCA1 (NBR1). Furthermore, pharmacological and genetic induction of autophagy suppresses pro-metastatic differentiation and metastatic outgrowth. Analysis of human breast cancer data reveal that autophagy gene expression inversely correlates with pro-metastatic differentiation signatures and predicts overall and distant metastasis-free survival. Overall, these findings highlight autophagy-dependent control of NBR1 as a key determinant of metastatic progression

Cellular architecture of human brain metastases

Brain metastasis (BrM) is the most common form of brain cancer, characterized by neurologic disability and an abysmal prognosis. Unfortunately, our understanding of the biology underlying human BrMs remains rudimentary. Here, we present an integrative analysis of >100,000 malignant and non-malignant cells from 15 human parenchymal BrMs, generated by single-cell transcriptomics, mass cytometry, and complemented with mouse model- and in silico approaches. We interrogated the composition of BrM niches, molecularly defined the blood-tumor interface, and revealed stromal immunosuppressive states enriched with infiltrated T cells and macrophages. Specific single-cell interrogation of metastatic tumor cells provides a framework of 8 functional cell programs that coexist or anticorrelate. Collectively, these programs delineate two functional BrM archetypes, one proliferative and the other inflammatory, that are evidently shaped through tumor-immune interactions. Our resource provides a foundation to understand the molecular basis of BrM in patients with tumor cell-intrinsic and host environmental traits