Mobile Infirmary

Introduction: FARS2 deficiency is a rare mitochondrial disorder that affects mitochondrial phenylalanyl-tRNA synthetase that transfers phenylalanine to its cognate tRNA in mitochondria. It is primarily associated with early onset epileptic encephalopathy and developmental delay. However, adult-onset presentations are exceedingly rare and frequently overlooked. We describe a rare and a diagnostically challenging presentation of late onset FARS 2 deficiency presenting as super refractory status epilepticus with persistent hyperammonemia. This report expands the known clinical phenotype and highlights the importance of early metabolic evaluation in unexplained status epilepticus. Description: A 25-year-old female with polycystic ovarian syndrome presented with new onset seizures initially treated with levetiracetam and was discharged with neurology follow-up. Within 24 hours, she presented back with super refractory status epilepticus, unresponsive to multiple antiepileptic drugs, requiring intubation for airway protection and high-dose sedation to achieve burst suppression on EEG. Status epilepticus persisted despite therapy requiring over 30 days in a medically induced coma. Her ICU course was further complicated by persistent hyperammonemia with elevated liver enzymes, unresponsive to lactulose, rifaximin and levocarnitine. She was emergently dialyzed because of diffuse cerebral edema noted on CT head. Hyperammonemia associated with elevated liver enzymes raised suspicion for urea cycle disorder. She was started on a low protein diet, which led to significant improvement in her seizure control. Advanced testing identified by biallelic pathogenic variants in the FARS2 gene, confirming FARS2 deficiency- a rare mitochondrial disorder. Patient’s presentation fits well with the late onset epilepsy phenotype without any spasticity. Discussion: This patient presented with elevated and persistent hyperammonemia with cerebral edema and status epilepticus refractory to anti-epileptic medication. This presentation should prompt consideration for rare metabolic disorder such as FARS 2 deficiency. Recognizing this early enables targeted nutritional therapy and prevents prolonged futile escalation of antiepileptic drugs.

Methotrexate (MTX) is a folate antagonist widely used as a disease-modifying antirheumatic drug (DMARD). Despite its efficacy and broad therapeutic range, its narrow safety margin and reliance on renal clearance confer risk for severe multisystem toxicity, particularly in patients with renal impairment, comorbidities, or dosing errors. We describe a 74-year-old male with coronary artery disease, type 2 diabetes, stage 3a chronic kidney disease, obesity, and seronegative rheumatoid arthritis who presented with progressive weakness, painful oral and genital ulcers, and three weeks of watery diarrhea. He was taking MTX 20 mg weekly, divided into morning and evening doses every seven days for three months. On admission, he was hypotensive, pancytopenic, and had acute kidney injury with elevated transaminases. His course was complicated by profuse bleeding from groin ulcers and evidence of systemic mucocutaneous toxicity. Laboratory evaluation confirmed cytopenias, transaminitis, and renal dysfunction, which improved with discontinuation of MTX and supportive therapy. Because life-threatening toxicity from low-dose MTX is rare, this case underscores an uncommon yet important manifestation - early detection of gastrointestinal symptoms, painful cutaneous and inguinal ulcerations, and cytopenias is crucial, even at the smallest doses of antirheumatic agents. Identification is paramount, as progression to late-stage toxicity is often refractory to leucovorin rescue.

Abstract Introduction: Diffuse pan-bronchiolitis (DPB) is a rare clinicopathologic entity characterized by bronchiolar inflammation and chronic sinusitis. DPB has rarely been reported outside East Asia. We describe our clinical observations caring for a young Caucasian man, initially misdiagnosed as a case of idiopathic interstitial pneumonia, who eventually improved after the correct diagnosis was obtained, and he received appropriate treatment. Case description: A 24-year-old man with a history of GERD, vitamin B-12 deficiency, and Barrett's esophagus presented with persistent shortness of breath worsening over the preceding 4-5 years. He remained symptomatic and unresponsive to steroids and antibiotics for suspected bouts of sinus infections, bronchitis, and pneumonia. He was a non-smoker and did not consume alcohol. He had obtained several CT scans in the past that revealed diffuse ground glass infiltrates and centrilobular nodules. Serologic tests for autoimmune disease were negative. His pulmonary function tests (PFTs) showed a restrictive pattern, with FEV1 at 38% of predicted, FVC at 39%, and DLCO reduced to 21%. He did demonstrate exertional desaturation dropping from 96% to 87% during a 6-minute walk test. Given non-response to chronic steroid treatment and declining lung function, we obtained a surgical lung biopsy. This revealed features consistent with diffuse pan-bronchiolitis, prompting macrolide therapy. He had a remarkable clinical, radiographic and spirometric improvement which was sustained over a two-year period. His exercise tolerance improved in addition to exertional desaturation. We were able to discontinue both corticosteroid and macrolide therapy successfully, and he has maintained remission. Discussion: Diffuse panbronchiolitis can cause progressive respiratory failure and is one of the few rare lung diseases for which steroid therapy is ineffective. On account of the nonspecific clinical symptoms and radiographic features, it can be confused with other interstitial processes like hypersensitivity pneumonitis, infection, or nonspecific interstitial pneumonia. This may prompt providers to empirically treat with steroids and antibiotics like our patient received, delaying the actual diagnosis. Histologically, it is characterized by the presence of lymphoplasmacytic inflammation involving the respiratory bronchioles and foamy macrophages within the peribronchiolar and subjacent alveolar interstitium. The exact etiology is still unknown, although several hypotheses have been proposed. If left untreated, diffuse panbronchiolitis has a 5-year mortality of nearly 50% with an excellent prognosis following low-dose macrolide therapy. Although erythromycin is considered the first line, due to the greater clinical experience, our patient responded excellently to azithromycin and has stayed in remission since.

IntroductionRecent advances in neurovascular devices available for ischemic stroke intervention have led to the routine use of large-bore aspiration catheters (AC) for successful and effective thrombus removal. However, navigation through the neurovasculature may become challenging due to a ‘ledge effect’ between the AC and microwire. The Aristotle Colossus Guidewire (Scientia Vascular, West Valley City, UT) is a novel 0.035-inch guidewire intended to reduce this ledge effect while maintaining adequate softness and torquability for navigation. We describe our multicenter experience using Colossus for microcatheter free delivery of large-bore AC to the intracranial circulation.MethodsAcross 13 centers, a retrospective analysis of 118 patients was performed between 5/1/2023 and 5/1/2024 who underwent thrombectomy for acute ischemic stroke of an anterior circulation occlusion using the Aristotle Colossus Guidewire. Primary efficacy outcome was rate of successful delivery of the AC to the target site without use of adjunct devices (microcatheter or stentriever). Continuous variables were summarized as medians with interquartile ranges (IQR). Categorical variables were summarized as frequencies. A multivariable logistic regression for the primary efficacy outcome was performed with the following clinically-relevant covariables: age, occlusion location, tandem occlusion, tortuosity severity, balloon-guided catheter use, base catheter location, and siphon type. Adjusted odds ratios (OR) and 95% confidence intervals (CI) were reported for independently-associated covariables. Significance level was pre-specified at 0.05.ResultsOf 118 patients, the average age was 74.5 years (IQR 62.8-83). Most occlusions were in the M1 segment of the middle cerebral artery (92/118, 78.0%), and 29.7% of procedures used a balloon-guided catheter (35/118, 29.7%). Colossus was able to deliver the AC to the face of the clot without adjunct strentriever or microcatheter in 88.1% (104/118) of patients, with 78.0% (92/118) of patients achieving microcatheter free delivery as well as successful contact aspiration. The clot was crossed with the wire in 33.1% (39/118) of cases. The median number of passes was 1 (IQR 1-2). Successful reperfusion (mTICI 2B/2C/3) was achieved in 97.5% (115/118) of cases. A multivariable regression demonstrated that severe internal carotid artery (ICA) tortuosity or cervical loop presence (Yes vs. No OR: 0.16, 95% CI: 0.03-0.93, p=0.04) and location of the base catheter in the proximal cervical ICA (Proximal Cervical ICA vs. Petrous Carotid/Intracranial - aOR: 0.09, 95%: 0.01-0.72, p=0.02) were significantly associated with lower odds of successful AC delivery with Colossus. Only 1.7% (2/118) of cases reported intraprocedural vasospasm; there were no reports of vessel dissection or perforation.ConclusionOur clinical multicenter experience demonstrates favorable performance of the Aristotle Colossus Guidewire for anterior circulation ischemic stroke intervention. Colossus may help facilitate navigation of the neurovasculature with reduction of the ledge effect. Future studies further characterize the novel wire’s performance.DisclosuresD. Tonetti: None. M. Koneru: None. W. Brinjikji: None. K. Rajjoub: None. E. Raz: None. A. Khawaja: None. C. Southwood: None. R. Dalyai: None. L. Birnbaum: None. S. Chowdhry: None. H. Do: None. D. Calnan: None. A. Malek: None. R. Grandhi: None. W. Ares: 2; C; Scientia Vascular, Medtronic, Penumbra.

Sogge, Susanna; Kwon, Marcus; Ra, Jennifer; Patel, Kunal; DiVittorio, Adrian Author Information

Basal cell carcinoma (BCC) is one of the most common skin malignancies in the United States. It commonly presents in the neck and head as a papulo-nodular lesion that is slow-growing with rare metastasis. BCC has a high curative rate often with Mohs surgery or excision of the lesion. In this case, we present an 80-year-old male who presented to the emergency department with a necrotizing wound on his left hand and met sepsis criteria. His necrotizing wound was identified as severe BCC of his hands which he has a 10-year history diagnosis of. He received appropriate sepsis measures with fluids, antibiotics, and blood transfusions but denied any further care for his BCC. Our case is unique because hands are an extremely uncommon presentation location of BCC. It is also unique because he presented as an extremely aggressive case while most cases of BCC are relatively innocuous. Early management of BCC is important, especially with a multidisciplinary approach as it can significantly reduce mortality risk.

The purpose of this study was to determine the frequency and methods of conflicts of interest (COI) reporting in published dry needling (DN) studies and to determine the frequency of researcher allegiance (RA). A pragmatic systematic search was undertaken to identify DN studies that were included in systematic reviews. Information regarding COI and RA were extracted from the full text of the published DN reports, and study authors were sent a survey inquiring about the presence of RA. A secondary analysis also was undertaken based on study quality/risk of bias scores that were extracted from the corresponding systematic reviews and study funding extracted from each DN study. Sixteen systematic reviews were identified, containing 60 studies of DN for musculoskeletal pain disorders, 58 of which were randomized controlled trials. Of the DN studies, 53% had a COI statement. None of these studies disclosed a COI. Nineteen (32%) authors of DN studies responded to the survey. According to the RA survey, 100% of DN studies included at least 1 RA criterion. According to the data extraction, 1 RA criterion was met in 45% of the DN studies. The magnitude of RA per study was 7 times higher according to the surveys than in the published reports. These results suggest that COI and RA might be underreported in studies of DN. In addition, authors of DN studies might be unaware of the potential influence of RA on study results and conclusions. Improved reporting of COI/RA might improve credibility of results and help identify the various factors involved in complex interventions provided by physical therapists. Doing so could help optimize treatments for musculoskeletal pain disorders provided by physical therapists.