Citations

AbstractThe current study was inspired by observations from exploratory analyses of an institutional cohort with chronic myelomonocytic leukemia (CMML; N = 398) that revealed no instances of blast transformation in the seven patients with plant homeodomain finger protein 6 (PHF6) mutation (PHF6MUT). A subsequent Mayo Clinic enterprise‐wide database search identified 28 more cases with PHF6MUT. Compared with their wild‐type PHF6 counterparts (PHF6WT; N = 391), PHF6MUT cases (N = 35) were more likely to co‐express TET2 (89% vs. 45%; p < .01), RUNX1 (29% vs. 14%; p = .03), CBL (14% vs. 2%; p < .01), and U2AF1 (17% vs. 6%; p = .04) and less likely SRSF2 (23% vs. 45%; p < .01) mutation. They were also more likely to display loss of Y chromosome (LoY; 21% vs. 2%; p < .01) and platelets <100 × 109/L (83% vs. 51%; p < .01). Multivariable analysis identified PHF6MUT (HR 0.28, 95% CI 0.15–0.50) and DNMT3AMUT (HR 5.8, 95% CI 3.3–10.5) as the strongest molecular predictors of overall survival. The same was true for blast transformation‐free survival with corresponding HR (95% CI) of 0.08 (0.01–0.6) and 9.5 (3.8–23.5). At median 20 months follow‐up, blast transformation was documented in none of the 33 patients with PHF6MUT/DNMT3AWT but in 6 (32%) of 19 with DNMT3AMUT and 74 (20%) of 374 with PHF6WT/DNMT3AWT (p < .01). The specific molecular signatures sustained their significant predictive performance in the context of the CMML‐specific molecular prognostic model (CPSS‐mol). PHF6MUT identifies a unique subset of patients with CMML characterized by thrombocytopenia, higher prevalence of LoY, and superior prognosis.

Vitamin C is a vital nutrient that functions as an antioxidant and is important as a co-factor and regulator of several immune system pathways. The role of vitamin C in the treatment of COVID-19 is largely debatable. We conducted this meta-analysis to evaluate the efficacy and safety of vitamin C in the treatment of COVID-19. We searched several electronic databases from inception to March 2023 to retrieve randomized controlled trials on the use of Vitamin C for COVID-19. RevMan 5.4 was used to calculate risk ratios (RRs) and Mean Differences (MDs) along with confidence intervals (95% CI) using a random-effects model. We included 9 randomized controlled trials in our meta-analysis. Vitamin C did not reduce the all-cause mortality in patients with COVID-19 compared to the standard treatment [RR 0.86, 95% CI: 0.65-1.14; I 2 =66%]. Vitamin C was found to be associated with an increased incidence of ventilation in COVID-19 patients when compared to standard treatment [RR 1.37, 95% CI: 1.18-1.59; I 2 =58%]. There were no significant differences between both groups regarding the incidence of hospitalization [RR 1.00, 95% CI: 0.98-1.02; I 2 =0%], incidence of recovery [RR 1.57, 95% CI: 0.45-5.50; I 2 =52%], hospital mortality [RR 0.68, 95% CI: 0.44-1.06; I 2 =0%] and length of hospital stay [MD -0.63, 95% CI: -3.04 to 1.78; I 2 =81%]. Vitamin C administration did not reduce all-cause mortality in COVID-19 patients. Additional studies are required to evaluate the role of Vitamin C in the prevention and treatment of COVID-19 especially in ICU patients.

BACKGROUND AND OBJECTIVES: Awake minimally invasive transforaminal lumbar interbody fusion (MIS-TLIF) generates minimal surrounding tissue damage and has been shown to be a safe, time-effective, and cost-reductive technique in single-level procedures. The purpose of this study was to advocate for the utilization of multilevel MIS-TLIF even in challenging cases as it has demonstrated positive outcomes. METHODS: Chart review was conducted for consecutive patients undergoing awake multilevel MIS-TLIF from 2020 to 2023. Various demographic, preoperative, and postoperative variables were collected and descriptively analyzed. RESULTS: Sixteen patients underwent multilevel awake MIS-TLIF at our institution during the specified period. Among them, 87.5% underwent a two-level procedure and 12.5% a three-level procedure. The median age ± IQR was 69.5 ± 11 years, with a slight male predominance (56.25%). Common comorbidities included hypertension (56.25%), obesity (37.5%), sleep apnea (25%), and type 2 diabetes (18.75%). The American Society of Anesthesiologists risk was 2 in 43.75% of patients and 3 in 56.25%. All patients presented pain, and 12.5% showed motor deficit. Intraoperative data showed a median of 196 minutes in the operating room where 156 ± 27.75 minutes corresponded to actual procedure time. The median estimated blood loss was 50 ± 70 cc. In the immediate postoperative period, 1 patient had nausea and emesis, and 1 reported fatigue. The median pain score during this period was 4.6 ± 2.03. Pain control medications were required for various patients, with methocarbamol (50%), hydromorphone (37.5%), and oxycodone (25%) being the most commonly prescribed in the postanesthesia care unit. No patient had new neurological deficits after the surgical intervention. The median length of stay was 2 days ±1.25. All patients were discharged with no complications. CONCLUSION: Multilevel awake MIS-TLIF emerges as a safe and effective technique for complex cases, enhancing patient quality of life with minimal blood loss and postoperative pain.

BACKGROUND AND OBJECTIVES: Corpus callosotomy is an effective procedure approach for treating medication-resistant drop seizures, which pose a significant challenge in patients with epilepsy. Laser interstitial thermal therapy offers an alternative to open surgery for performing corpus callosotomy that may limit approach-related comorbidities. Practices vary regarding the number of laser filaments used and staging; outcome data for pediatric patients remain relatively limited. METHODS: We illustrate a set of 4 standardized trajectories for performing MRI-guided stereotactic laser corpus callosotomy (SLCC). For this retrospective cohort study in a pediatric neurosurgery practice, the medical records and imaging were reviewed for 10 consecutive patients who had medication-refractory drop seizures and underwent SLCC. Data collected and analyzed included patient and epilepsy characteristics, procedural details, surgical approaches, and clinical follow-up results. RESULTS: Over 2 years, complete, single-stage SLCC was performed in 8 patients, and posterior completion SLCC was performed in 2 patients who had previously had open anterior corpus callosotomy. Four laser fibers were used in four-eighth complete SLCC, and 3 fibers were used in four-eighth complete SLCC. Seven of 10 patients were discharged from the hospital on postoperative day 1, with only 1 requiring a maximum stay of 6 days. Five of 9 evaluable patients reported no drop seizures at the last clinical follow-up. In the other 4 patients, 1 experienced them only rarely, another experienced less than 25% preoperative frequency, and the remaining 2 had less than a 50% improvement. In addition, improvement in other seizure types exceeded 50% in 8 of 9 patients. Notably, no perioperative or postoperative complications were observed, nor were there any sustained neurological deficits reported. CONCLUSION: Complete SLCC can be safely and effectively performed in pediatric patients. It is comparable in effectiveness with open surgery but has lower complication rates and shorter hospitalization.

Clinical History: A 60-year-old female was found to have a 2 cm Ureteropelvic junction (UPJ) stone in an ectopic right pelvic kidney while undergoing evaluation for gross hematuria. She had no prior stone history and normal renal function. Physical Exam: Physical exam was unremarkable. Computed tomography (CT) Urogram revealed a medial, pelvic kidney with overlying bowel and posterior, tortuous ureter. Renal vein ran longitudinally along the anterior surface of the kidney. Diagnosis: A 2 cm UPJ stone in an ectopic right pelvic kidney. Intervention: Given tortuosity of the ureter and overlying bowel precluded an endoscopic approach, we proceeded with robotic-assisted pyelolithotomy. 1 An open-ended ureteral catheter was advanced to allow for distension of the renal pelvis. After placing robotic trocars, peritoneum and Gerota’s fascia were dissected off the anterior surface of the kidney. Robotic Potts were used to enter the renal pelvis. No stone was visible, thus antegrade ureteroscopy was performed through a robotic port, demonstrating an impacted 2 cm lower pole stone. We performed antegrade ureteroscopy, laser lithotripsy, and basket-extraction. A robotic suction arm was employed to remove remaining dust. A double-J ureteral stent was placed antegrade, and pyelotomy was closed in a running fashion. Follow-Up/Outcomes: The patient had an uneventful postoperative course and CT at 6 weeks demonstrated no residual stone. Laparoscopic or robotic-assisted pyelolithotomy demonstrates higher stone free rates in pelvic kidneys compared with endoscopic treatment (97.2% vs 65.9%–84.9%). 2 However, surgical approach should be decided based on patients’ anatomy, stone density and location, and surgeon experience. Author Disclosure Statement: The authors have no conflicts of interest to disclose. Patient Consent Statement: Authors have received and archived patient consent for video recording/publication in advance of video recording of procedure. Music: Music was obtained from www.pixabay.com and is no copyright music, free for use. Exact Runtime of video: 5 min 00 sec.

Reconstruction of the abductor mechanism remains a primary challenge with contemporary proximal femoral replacement (PFR) surgery. Previously, techniques such as trochanteric preservation or direct repair to the implant have been described; however, these strategies are limited in their ability to tension the repair and reattach other muscles of the hip girdle. The aim of this study was to evaluate the outcomes of patients undergoing oncologic PFR using a novel technique of mesh augmentation for soft tissue repair. Methods: We reviewed 18 (mean age 64 years; 8 female: 10 male) consecutive patients undergoing PFR with Marlex mesh augmentation between 2018 and 2023 at a single institution. The most common indication was metastatic disease (n = 13). The mean follow-up in the 14 surviving patients was 27 months (range 12–34). Results: All patients were ambulatory at final follow-up. There were no post-operative dislocations, infections, or wound issues. At the final follow-up, the mean total MSTS score was 77%. Conclusion: Mesh augmentation of PFRs allowed for adequate soft tissue tensioning and muscular attachment to the body of the implant. In our series, this technique was durable, with no dislocations and no mesh-related complications. In summary, mesh augmentation of PFRs may be considered during reconstruction for oncologic indications.

Abstract Insulin-producing pancreatic tumors are a common subtype of neuroendocrine tumor. Standard of care includes surgical resection of the pancreatic tumor and medical management with somatostatin analogs. For patients with metastatic disease, tumor control and hypoglycemic symptom relief can be achieved through surgical resection of the tumor, hepatic artery embolization, radiofrequency ablation, or radioembolization using radioactive isotopes as well as with systemic therapy such as somatostatin analogs and everolimus. We present the case of a 74-year-old male with metastatic insulin-producing pancreatic carcinoma. After a long history of successfully controlling his hypoglycemic episodes post-liver wedge resection, bland embolizations subsequently failed to maintain control of the frequency and severity of his hypoglycemic symptoms. Stereotactic body radiotherapy (SBRT) with protons was used to achieve symptomatic control and led to partial radiographic response with complete resolution of his hypoglycemic episodes. This case demonstrates the potential utility of proton SBRT in metastatic insulinomas.

Abstract Chronic lymphocytic leukemia (CLL) patients are immunocompromised and highly vulnerable to serious recurrent infections. Conventional dendritic cells (cDCs) and plasmacytoid DCs (pDCs) are principal sensors of infection and are essential in orchestrating innate and adaptive immune responses to resolve infection. This study identified significant deficiencies in six functionally distinct DC subsets in blood of untreated CLL (UT-CLL) patients and selective normalization of pDCs in response to acalabrutinib (a Bruton tyrosine kinase inhibitor) therapy. DCs are continuously replenished from hematopoiesis in bone marrow (BM). Four BM developmental intermediates that give rise to cDCs and pDCs were examined and significant reductions of these were identified in UT-CLL patients supporting a precursor/progeny relationship. The deficiencies in blood DCs and BM DC progenitors were significantly associated with alterations in the Flt3/FL signaling pathway critical to DC development and function. Regarding clinical parameter, cDC subset deficiencies are associated with adverse prognostic indicators of disease progression, including IGHV mutation, CD49d, CD38, and ZAP-70 status. Importantly, UT-CLL patients with shared DC subset deficiencies had shorter time-to-first treatment (TTFT), uncovering a profound alteration in innate immunity with the potential to instruct therapeutic decision-making.

Introduction: Autosomal dominant polycystic kidney disease (ADPKD) is one of the most prevalent heritable disorders, characterized by the progressive development of kidney cysts leading to renal failure. It is primarily caused by mutations in the PKD1 and PKD2 genes, which account for approximately 85% and 15% of cases, respectively. This case report describes a previously unreported mutation in the PKD1 gene, identified in a family involving an aunt and her niece with ADPKD. Case Presentation: The index case, a 56-year-old female with chronic kidney disease stage 3b secondary to ADPKD and hypertension, exhibited a strong family history of polycystic kidney disease (PKD). Initial genetic evaluations did not identify any recognized pathogenic mutations, leading to a more detailed investigation which revealed a novel mutation in the PKD1 gene. This mutation was also found in her niece, who presented with early-onset disease. Conclusions: The identification of a heterozygous six-nucleotide deletion, c.2084_2089del, resulting in the in-frame deletion of two amino acids, p.Pro695_Ala696del, in the PKD1 gene, has been linked with ADPKD in these patients. This report emphasizes the need for continuous updates to genetic data for a deeper understanding of the diagnosis and prognosis of ADPKD that could potentially aid in targeted therapy.

Background Many devices are used to perform mechanical thrombectomy in the setting of large vessel occlusion acute ischemic stroke. We sought to evaluate the efficacy and safety of pRESET stent-retriever systems. Methods We conducted a comprehensive systematic review and meta-analysis following the Preferred Reporting Items for Systematic Reviews and Meta-Analyses guidelines. Relevant studies up to March 2024 were retrieved from PubMed, Scopus, Web of Science, and Embase databases. Results A total of 8 papers met the inclusion/exclusion criteria comprising a total of 1140 participants (average age 72.4 ± 11.9, female percentage (50%). Preintervention intravenous thrombolysis was utilized in 46.5% (range 32.9–65.4) of patients, with a median National Institute of Health Stroke Scale at presentation of 15 (range 0–38). The middle cerebral artery was the most commonly affected artery, with a prevalence of 76.4% (range 62.8–100). The pRESET stent-retriever systems demonstrated a first-passing effect rate of 53.4% [95% confidence interval [CI] 44.8; 61.7] and a final thrombolysis in cerebral infarction 2b-3 grade rate of 90.41% [95% CI 82.13; 95.08]. Ninety-day modified Rankin Scale (0–2) rate was 42.2% [95% CI 27.6; 58.4], and 90-day mortality rate was 15.1% [95% CI 9.8; 22.6]. Postintervention hemorrhage occurred at a rate of 28.6% [CI 17.2; 43.6]. Conclusion Our systematic review and meta-analysis describes the efficacy of the pRESET stent retriever system in managing acute ischemic stroke patients. The pRESET device was found to have a similar safety and efficacy profile to other mechanical thrombectomy devices currently in use.