Single-center Series Research Articles

Efgartigimod as a fast-acting add-on therapy in manifest and impending myasthenic crisis: A single-center case series

Efgartigimod was the first-in-class neonatal Fc receptor antagonist approved for the treatment of acetylcholine receptor antibody positive (AChR+), Myasthenia Gravis Foundation of America (MGFA) Class II-IV generalized myasthenia gravis (gMG) patients. As a novel therapy, the clinical experiences are still lacking, especially for the use of efgartigimod in manifest and impending myasthenic crisis (IMC). We reported three AChR+, gMG patients, two with myasthenic crisis (MC) and one with IMC, treated with efgartigimod. MGFA class, MG-Activity of Daily Living score (MG-ADL), Quantitative MG score (QMG), and Muscle Research Council sum score (MRC), concentration of anti-AChR antibody, IgG, globulin, and albumin, subsets of T and B lymphocyte were evaluated or measured before, during and after efgartigimod treatment. All patients showed fast and robust response to efgartigimod with marked improvement in MGFA, MG-ADL, QMG, and MRC scores. Patient 1 did not respond effectively to IVIg but was successfully rescued by add-on efgartigimod. She extubated at 7 days after the first infusion and got rid of NIV after 14-days treatment. Patient 2 and patient 3 directly used efgartigimod when symptoms were not ameliorated by adjusting of oral drugs. Patient 2 wean from BiPAP at seven days after the first infusion. Patient 3 in IMC status, overcame the severe dysphagia at three days after the first infusion. Clinical symptoms continued to improve 1–2 weeks after discharge. Concentration of anti-AChR antibody, IgG and globulin were remarkably reduced by efgartigimod treatment. Our study supported that efgartigimod could act as a fast-acting rescue therapy for patients with MC or IMC. Larger studies from multicenter are required to provide further evidence.

Muscle ultrastructure and histopathological findings in a Brazilian single-centre series of genetically classified telethoninopathy patients

BackgroundTelethoninopathy or TCAP-gene related Limb Girdle Muscular Dystrophy is a rare genetic disease that was first described in Brazil. There are around 100 families reported worldwide. Due to its rarity, detailed information on muscle biopsy light and electron microscopic features are lacking.Cases presentationRetrospective study of consecutive muscle biopsies performed in patients from a Neuromuscular Outpatient Clinic between 2011 and 2023. Inclusion criteria: telethoninopathy diagnosed by both immunohistochemistry and molecular studies. Seven patients (0.7% or 7/953) were found: five male and two female, admitted from 6 to 54 years old. Detailed light and electron microscopy findings are illustrated. Muscle imaging is presented. A dystrophic pattern on muscle biopsy was found in 57% (4/7) of the patients. Other 43% (3/7) presented myopathic features such as variation in fibre calibre, nuclear internalization, rimmed vacuoles, and oxidative irregularities. Morphometry disclosed type 1 lobulated fibres that were 34%, 52%, and 57% smaller than type 2 fibres, respectively, in three patients, without type 1 fibre predominance. Electron microscopy demonstrated nuclear pseudoinclusions, pyknosis, multifocal loss of the sarcolemma, and 17 nm intrasarcoplasmic filamentous inclusions. All patients presented: (1) complete absence of the immunohistochemical expression of telethonin, and (2) the homozygous c.157C > T, p.(Gln53*) pathogenic variant in exon 2 of the TCAP gene.ConclusionAnti-telethonin immunohistochemistry may be helpful in unsolved cases with nonspecific myopathic abnormalities, specially with small type 1 lobulated fibres. Appropriate diagnosis is important for adequate genetic counselling.

Inclusive ABO-Incompatible Listing for Pediatric Heart Transplantation Results in Comparable Post-Transplant Rejection-Free Survival in a Single-Center Series.

ABO-incompatible (ABOi) heart transplantation (HT) has increased organ availability for infants with end-stage heart failure. Despite increasing adoption of ABOi listing for HT, data remain limited regarding pre- and post-HT immunologic profiles to guide listing practices and post-HT follow-up. Thus, the purpose of this study was to evaluate post-HT outcomes at a single center employing inclusive ABOi listing irrespective of pre-HT isohemagglutinin titers. All HT recipients listed at less than 24months of age at our institution from 2010-2020 were included. Pre- and post-operative variables were compared for ABOi and ABO-compatible (ABOc) recipients. Separate iso-IgG and iso-IgM titers were monitored pre- and post-HT. Primary outcomes were compared between ABOi versus ABOc groups at mid-term follow-up. 51 HTs were performed on 50 patients from 2010-2020 (ABOi, N = 13; ABOc, N = 38). Six ABOi recipients received intra-operative plasma exchange for elevated titers (greater than 1:8 for IgG or IgM or reverse type greater than 2 +). Treated rejection, DSA, CAV, primary graft failure, need for re-HT, and survival were comparable between ABOi and ABOc groups at mid-term follow-up. An inclusive approach to ABOi HT listing for infants less than 24months of age results in comparable post-transplant rejection-free survival, CAV, and prevalence of DSA at mid-term follow-up. These data define a potential role for specific IgM and IgG testing to promote understanding of risk stratification in pediatric ABOi listing, and support an inclusive strategy irrespective of high pre-HT titers to expand the number of available donor hearts for infants and older children awaiting HT.

Robotic spinal angiography: A single-center experience.

Robotic neurointervention enhances procedural precision, reduces radiation risk, and improves care access. Originally for interventional cardiology, the CorPath GRX platform has been used in neurointerventions. Recent studies highlight robotic cerebral angiography benefits, but information on spinal angiography is limited. While a new generation of robotic solutions is on the horizon, this series evaluates our experience with the CorPath GRX in spinal angiographic procedures, addressing a key gap in neurointerventional research. In this single-center retrospective case series, we analyzed 11 patients who underwent robotic-assisted diagnostic procedures with the CorPath GRX system from February 2022 to March 2023 at our institution. A descriptive synthesis was performed on the demographic, baseline, surgical, and postoperative data collected. The average age of the 11 patients was 54 ± 20.34 years, with six (54.55%) female. The mean body mass index was 29.58 ± 7.86, and 7 (63.64%) were non-smokers. Of the 11 procedures using the CorPath GRX system, four (36.36%) were partially converted to manual technique. General anesthesia was used in nine cases (81.82%), and right-side femoral access in ten (90.91%) patients. Mean fluoroscopy time was 24.81 ± 10.19 min, contrast dose 174.09 ± 57.31 mL, dose area product 472.23 ± 437.57 Gy·cm², and air kerma 2438.84 ± 2107.06 mGy. No robot-related complications and minimal procedure-related complications were reported. The CorPath GRX system, a robotic-assisted platform, has proven reliable and safe in spinal angiography, evidenced by its enhanced procedural accuracy and reduced radiation exposure for operators.

Clinical features associated with immune checkpoint inhibitor nephritis: a single-center clinical case series

BackgroundAcute kidney injury (AKI) has been well described as a complication of immune checkpoint inhibitor therapy. We present a series of patients, the majority with lung adenocarcinoma, who developed AKI while actively receiving immune checkpoint inhibitors.MethodsThis is a retrospectively analyzed clinical case series of six patients treated at City of Hope Comprehensive Cancer Center. Data were collected on gender, age, ethnicity, comorbidities, concomitant medications, type of malignancy, treatments, and renal function. All patients underwent renal biopsy for classification of the mechanism of AKI. Comprehensive genomic profiling (CGP) was performed on tumor tissue for all patients.ResultsPatterns of AKI included acute interstitial nephritis and acute tubular necrosis. Contributing factors included the use of concomitant medications known to contribute to AKI. All but two patients had full resolution of the AKI with the use of steroids. There were several mutations found on CGP that was notable including an Exon 20 insertion as well as multiple NF1 and TP53 mutations. There was high PD-L1 expression on tumor tissue noted in two out of six patients. In addition to AKI, a subset of patients had proteinuria with biopsies revealing corresponding glomerular lesions of minimal change disease and focal and segmental glomerulosclerosis.ConclusionsOur case series demonstrates that AKI from immune checkpoint inhibitors has a variable presentation that may require an individualized treatment approach. Further studies are needed to identify biomarkers that may help identify those at risk and guide the management of this condition.

Effectiveness and safety of istent inject as an interventional glaucoma approach for uncontrolled open-angle glaucoma.

To describe the results of iStent inject implantation as a standalone procedure in early-stage uncontrolled glaucoma, with results up to 24 months. A retrospective, single-center case series that recruited patients with open-angle glaucoma (OAG), uncontrolled IOP (defined as ≥18 mmHg), and who are receiving 1-4 glaucoma medications were implanted the iStent inject as a standalone procedure. Exclusion criteria were the contraindications of iStent inject implantation. Primary outcome measures were IOP at 6, 12, 18, and 24 months compared to baseline, and the number of medications at baseline and 24 months. Eighty-eight eyes from 88 patients, aged 57.6 ± 9.8 years, were included. Ten eyes underwent a subsequent glaucoma procedure during follow-up and were excluded from the analysis. The mean IOP (mmHg) was reduced from 20.54 ± 1.42 at baseline to 15.99 ± 1.98 and 16.15 ± 2.21 (n = 78, p < 0.001) at the 12- and 24-month follow-up, respectively, and the mean number of medications was reduced from 2.35 ± 0.70 to 1.31 ± 0.80 (p < 0.001) at 24 months. Of those eyes, 59% had ≥20% reduction in IOP at 24 months, 91% had an IOP ≤18 mmHg at 24 months, and 71.8% were receiving fewer medications. At 24 months, 14.1% of eyes were medication-free, compared to none at baseline. No serious intraoperative or postoperative adverse events occurred. iStent inject can effectively control intraocular pressure in mild glaucoma, reducing medication reliance and improving patient quality of life.

Invasive treatment for extracranial carotid artery aneurysm: a single-center case series and literature review

BackgroundExtracranial carotid artery aneurysm (ECAA) is a rare peripheral arterial disease. The main treatment strategies include conservative treatment, open surgery, endovascular treatment, and hybrid techniques, and there is no expert consensus or guidelines, with only a few case reports.MethodThis article reviewed 10 cases diagnosed with "extracranial carotid artery aneurysm" and received invasive treatment from January 2013 to July 2023 in our medical center.ResultsThere were 10 patients with ECAA admitted to our center, including seven cases of true aneurysms, two cases of pseudoaneurysms, and one case of dissecting aneurysm. There were 3 females and 7 males aged between 24–61 years. Based on the characteristics of ECAA, we designed the individualized procedure including open surgery, endovascular treatment, and hybrid treatment. Procedures were technically successful for all patients, and none of them had any adverse events during the follow-up period except for one patient who developed cerebral hemorrhage on the third postoperative day and recovered after cerebral puncture and drainage.ConclusionThe current invasive treatments for ECAA mainly include open surgery, endovascular treatment, and hybrid treatment, and they all appear to be safe and effective.

A single-center retrospective series of OCT and MRI findings in pediatric MOGAD optic neuritis patients

BackgroundWhether optical computed tomography (OCT) and magnetic resonance imaging (MRI) findings are associated with final visual acuity in children with myelin oligodendrocyte glycoprotein antibody disease (MOGAD) optic neuritis is unclear. MethodsWe retrospectively reviewed the charts of pediatric patients with MOGAD optic neuritis seen at St. Louis Children's Hospital/Barnes Jewish Hospital since 2016. ResultsIn the 12 patients in this study, presenting visual acuity was worse in the optic neuritis-affected eyes but significantly improved from presentation to follow-up, such that, at last follow-up, there was no longer a statistical difference between the affected and unaffected eyes. The number of affected eyes with nerve enhancement and the amount of optic nerve affected, as well as thickness of the retinal nerve fiber layer (RNFL), ganglion cell layer (GCL), and macula, decreased from presentation to follow-up. Ultimately, none of these variables were associated with final visual acuity. ConclusionIn this cohort, pediatric MOGAD optic neuritis patients had positive visual outcomes despite significant RNFL thinning and involvement of the optic nerve on MRI, leading to a lack of correlation between follow-up visual acuity and OCT and MRI measures of disease severity, respectively.

Bilateral centromedian nucleus of thalamus responsive neurostimulation for pediatric-onset drug-resistant epilepsy.

Neuromodulation therapies offer an efficacious treatment alternative for patients with drug-resistant epilepsy (DRE), particularly those unlikely to benefit from surgical resection. Here we present our retrospective single-center case series of patients with pediatric-onset DRE who underwent responsive neurostimulation (RNS) depth electrode implantation targeting the bilateral centromedian nucleus (CM) of the thalamus between October 2020 and October 2022. Sixteen patients were identified; seizure outcomes, programming parameters, and complications at follow-up were reviewed. The median age at implantation was 13 years (range 3.6-22). Six patients (38%) were younger than 12 years of age at the time of implantation. Ictal electroencephalography (EEG) patterns during patients' most disabling seizures were reliably detected. Ten patients (62%) achieved 50% or greater reduction in seizure frequency at a median 1.3 years (range 0.6-2.6) of follow-up. Eight patients (50%) experienced sensorimotor side effects, and three patients (19%) had superficial pocket infection, prompting the removal of the RNS device. Side effects of stimulation were experienced mostly in monopolar-cathodal configuration and alleviated with programming change to bipolar configuration or low-frequency stimulation. Closed-loop neurostimulation using RNS targeting bilateral CM is a feasible and useful therapy for patients with pediatric-onset DRE.

Antireflux surgery for prevention of chronic lung allograft dysfunction (CLAD) onset after lung transplantation: The earlier the better before CLAD onset? A single-center series of 284 patients

BackgroundGERD is highly prevalent after lung transplantation (LTx), and suspected to favor the development of chronic lung allograft disease (CLAD), almost of BOS phenotype. The preventive effect of anti-reflux surgery (ARS) on BOS/CLAD onset in patients with GERD still remains debated. We compared the outcome (freedom from CLAD and graft survival) of patients with GERD with or without performed ARS (GERD-ARS and GERD-noARS groups) and those without GERD (noGERD group) in our LTx cohort. MethodsData from 284 LTx recipients with available post-LTx pHmetry findings were reviewed (2001-2014). We focused on the outcome of 244 patients without CLAD at the date of pHmetry. ResultsAmong 244 stable patients at the date of pHmetry, 78 patients did not have GERD and 166 patients had GERD [41 with and 125 without ARS performed]). The mean DeMeester score was higher in the GERD-ARS group than GERD-noARS group (p=0.03). An increase of DSAs MFI values was observed only in GERD after LTx (M6 vs day 0, p<0.0001; M12 vs day 0, p=0.003).Freedom from CLAD at 3 years post-pHmetry/ARS was higher for GERD-ARS patients as compared to GERD-noARS patients (p=0.002). Additionally, ARS was independently associated with a subsequent decreased risk of CLAD onset at 3 years in GERD patients (GERD-ARS versus GERD-noARS, p=0.02 [Cox models]). ARS was safe in this series, with no surgery-related deaths. ConclusionOur results suggested a preventive effect of ARS on CLAD onset in stable selected patients with GERD, with a beneficial medium-term effect. IRB approval numberIRB00012437

Diagnostic accuracy and confounders of vagus nerve ultrasound in amyotrophic lateral sclerosis—a single-center case series and pooled individual patient data meta-analysis

BackgroundSeveral single-center studies proposed utility of vagus nerve (VN) ultrasound for detecting disease severity, autonomic dysfunction, and bulbar phenotype in amyotrophic lateral sclerosis (ALS). However, the resulting body of literature shows opposing results, leaving considerable uncertainty on the clinical benefits of VN ultrasound in ALS.MethodsRelevant studies were identified up to 04/2024 and individual patient data (IPD) obtained from the respective authors were pooled with a so far unpublished cohort (from Munich). An IPD meta-analysis of 109 patients with probable or definite ALS (El Escorial criteria) and available VN cross-sectional area (CSA) was performed, with age, sex, ALS Functional Rating Scale-revised (ALSFRS-R), disease duration, and bulbar phenotype as independent variables.ResultsMean age was 65 years (± 12) and 47% of patients (± 12) had bulbar ALS. Mean ALSFRS-R was 38 (± 7), and mean duration was 18 months (± 18). VN atrophy was highly prevalent [left: 67% (± 5), mean CSA 1.6mm2 (± 0.6); right: 78% (± 21), mean CSA 1.8 mm2 (± 0.7)]. VN CSA correlated with disease duration (mean slope: left − 0.01; right − 0.01), but not with ALSFRS-R (mean slope: left 0.004; mean slope: right − 0.002). Test accuracy for phenotyping bulbar vs. non-bulbar ALS was poor (summary receiver operating characteristic area under the curve: left 0.496; right 0.572).ConclusionVN atrophy in ALS is highly prevalent and correlates with disease duration, but not with ALSFRS-R. VN CSA is insufficient to differentiate bulbar from non-bulbar ALS phenotypes. Further studies are warranted to analyze the link between VN atrophy, autonomic impairment, and survival in ALS.

Corneal High-Order Aberrations in Fuchs Endothelial Corneal Dystrophy and Subclinical Corneal Edema.

High-order aberrations (HOAs) are known to be increased in corneas with Fuchs endothelial dystrophy (FECD) and are associated with visual impairment. This case series aimed to analyze whether tomographic changes in FECD affect the HOA in the early period of the disease. In this retrospective single-center case series, 144 eyes of 85 patients were included, of which 78 eyes of 47 patients with FECD with slit-lamp biomicroscopically visible guttae but no visible corneal edema served as the study-cohort. According to Sun et al, included eyes were divided into 2 groups: group 0 (n = 28; no subclinical corneal edema) and group 1 (n = 50; subclinical corneal edema). A total of 66 healthy eyes of 38 patients served as control group. Mean values and standard deviations were calculated for the root mean square (RMS), coma, trefoil and spherical aberrations (SA) of the cornea (C), the anterior surface (CF), and the posterior surface (CB). Statistically significant differences (P < 0.001) in the RMS HOA (group 0: 0.209 ± 0.044 μm, group 1: 0.372 ± 0.122 μm) and in coma (group 0: 0.082 ± 0.054 μm, group 1: 0.214 ± 0.101 μm) and SA (group 0: -0.130 ± 0.038 μm, group 1: -0.176 ± 0.074 μm) of the CB were found in eyes in group 1 versus those in group 0. There were no statistically significant differences in HOA between the control group and eyes in group 0. FECD eyes with subclinical corneal edema demonstrated significant increase in RMS, coma, and SA of the CB. Tomographic analysis, therefore, helps in visual impairment assessment, disease progression, and decision-making for early endothelial keratoplasty in patients with FECD.

A novel endoscope-port unit for lumbar microendoscopic surgery: a single-center case series review.

Minimally invasive spinal surgery has shown benefits not only from a clinical standpoint but also in some cost-effectiveness metrics. Microendoscopic procedures combine optical advantages of endoscopy with the preservation of bimanual surgical maneuvers that are not feasible with full percutaneous endoscopic procedures. TELIGEN is a new endoscopic platform designed to optimize these operations. Our aim was to present a retrospective review of surgical data from the first consecutive cases applying this device in our institution and describe some of its technical details. 25 patients have underwent procedures using this device at our institution to the date, with a mean follow-up of 341.7 ± 45.1 days. 17 decompression-only procedures, including microendoscopic discectomies (MED) and decompression of stenosis (MEDS), with or without foraminotomies (± MEF) and 8 microendoscopic transforaminal lumbar interbody fusions (ME-TLIF) were performed. Mean age and body mass index (BMI) were respectively 58.8 ± 17.4 years and 27.6 ± 5.3kg/m2. Estimated blood loss (13 ± 4.8, 12.8 ± 6.98 and 76.3 ± 35.02 mL), postoperative length of hospital stay (11.2 ± 21.74, 22.1 ± 26.85 and 80.7 ± 44.60h), operative time (130.3 ± 58.53, 121 ± 33.90 and 241.5 ± 45.27min) and cumulative intraprocedural radiation dose (14.2 ± 6.36, 15.4 ± 12.17 and 72.8 ± 12.26 mGy) are reported in this paper for MED ± MEF, MEDS ± MEF and ME-TLIF, respectively. TELIGEN affords an expanded surgical field of view with unique engineered benefits that provide a promissing platform to enhance minimally invasive spine surgery.

Omalizumab in the treatment of bullous pemphigoid: A single-center series of 15 cases.

Bullous pemphigoid (BP) is a chronic autoimmune disease affecting the elderly population and characterized by the formation of subepidermal tense bullae. Treatment options include topical steroids, systemic steroids, immunosuppressants, and antimicrobials, and there is emerging evidence of the efficacy of omalizumab. In this study, we aimed to demonstrate omalizumab's efficacy for treating BP, and we also reported treatment-related adverse events. The retrospective cohort study included patients with BP who were followed up in our clinic's bullous diseases department between 2016 and 2023. Patients who received omalizumab were included in the study. Treatment responses of all patients were assessed by BP Disease Area Index activity and damage scores, treatment scale scoring, steroid dose reduction, and the presence/absence of pruritus. Also, total IgE levels of patients before the treatment onset and at the last visit were compared. There were 15 (male/female = 8/7) BP patients receiving omalizumab treatment. Omalizumab therapy allowed steroid dose reduction at a median of 1 month. Omalizumab (25.5 mg, 95% confidence interval 17.2-33.9, P < .001) provided a significant steroid dose reduction at the last visit compared to the beginning of treatment. Omalizumab resulted in a decrease in BP Disease Area Index activity score of 80.8 (95% confidence interval 71.8-89.8, P < .001). Also, omalizumab caused significant decline in IgE levels compared to baseline (1102.5 ± 834.5 vs 834.6 ± 613.6, P = .002). In this study, omalizumab treatment was an effective and safe option in BP patients with high baseline IgE levels who are refractory to or cannot tolerate other immunosuppressive therapies.

Value and limitations of targeted next-generation sequencing in idiopathic hypereosinophilia: an integrative diagnostic tool in challenging cases

Here, we reviewed clinical-morphological data and investigated mutational profiles by NGS in a single-center series of 28 consecutive patients admitted to our hospital between September 2011 and November 2021 for idiopathic hypereosinophilia (HE).Bone marrow (BM) morphology was evaluated in 22 patients: while in six subjects BM was unremarkable, in the remaining cases an increase in BM eosinophils was observed, together with a slight increase in BM fibrosis (MF-1) in 5/22 patients.A total of 4/28 patients had at least one genetic lesion by targeted NGS. In particular, the genes involved were: two each of TET2 and DNMT3A; and one each of JAK2V617F, ASXL1, PPM1D, and ZBTB33. Notably, JAK2V617F and TET2 mutations co-occurred, with the JAK2V617F-mutated sample also carrying TET2 lesions. Median VAF was 21%, with the exception of the oncodriver JAK2V617F, which showed a VAF > 50% in the reported case. Of note, of the four cases bearing lesions, 2/4 had multiple hits in different genes.While in recent years mutational analysis using NGS has proven to be able to differentiate clonal hematopoietic neoplasms from reactive processes in diagnostically difficult cases, we found somatic mutations in only 14.3% of patients who acceded to our hospital for idiopathic HE. More importantly, excluding the JAK2V617F-mutated case with an underlying MPN-Eo diagnosis, NGS was able to identify somatic mutations in only three cases, all older than 70 years. Consequently, the detection of these mutations in idiopathic HE patients should be interpreted with caution and only in the context of other supportive clinical-pathological findings.

Clinical Presentation and Treatment Outcomes of Renal Medullary Angiitis in Antineutrophil Cytoplasmic Antibody-Associated Vasculitis: A Single-Center Case Series.

Antineutrophil cytoplasmic antibody-associated vasculitis (AAV) with renal involvement primarily affects the renal cortex and presents with key histopathologic findings of a pauci-immune necrotizing and crescentic glomerulonephritis. Infrequently reported and poorly characterized is renal medullary angiitis (RMA), a pathologic variant of AAV primarily involving the renal medulla. This study seeks to describe the presentation and treatment outcomes of RMA. In this single-center cohort, renal pathology samples classified as AAV with renal involvement underwent secondary review to determine if they met histopathologic criteria for RMA. Demographic, clinical, and laboratory data were obtained via electronic medical record review. Descriptive statistical analysis was performed on key variables. Of the 136 kidney biopsy samples classified as AAV with renal involvement, histopathologic features of RMA were present in 13 cases. The mean (SD) age at the time of RMA diagnosis was 65 (19) years, and 54% were female. Most cases presented with extrarenal manifestations of disease. Initial median (IQR) estimated glomerular filtration rate and proteinuria on presentation were 16 (10-19) mL/min/1.73 m2 and 1,100 (687-2,437) mg, respectively. The primary histologic features were high degrees of interstitial inflammation comprised leukocytes, neutrophils, plasma cells, and eosinophils along with either interstitial hemorrhage or necrosis. All patients were treated with glucocorticoids in combination with either cyclophosphamide, rituximab, or mycophenolate. All patients achieved disease remission. During a median (IQR) follow-up of 42 (14-68) months, 1 patient reached ESKD and 1 patient died. In this single-center case series, we identified the presence of RMA in 9.5% of AAV samples that underwent secondary review. RMA presented with severe impairment in renal function and multisystem disease. Standard of care immunosuppression for AAV was effective for remission induction in RMA. It remains unclear whether standard prognostication tools are useful in this population.

Incidence of Endoscopic Retrograde Cholangiography after Subtotal Fenestrating and Reconstituting Cholecystectomy.

Laparoscopic subtotal cholecystectomy (SC) is used for the difficult cholecystectomy, but published experience with resource use for SC is limited. We hypothesized that the need for advanced resources are common after SC. This was a retrospective review of laparoscopic cholecystectomies between 2017 and 2021 at a large center. SC cases were identified using a medical record tool. Baseline characteristics were assessed with Student's t -test and chi-square test. Primary outcome was endoscopic retrograde cholangiography (ERC) within 60 days. Secondary outcomes were reconstituted SC on postoperative ERC and length of stay (LOS). Uni- and multivariable logistic regression were used for binary outcomes. Multiple linear regression was used for LOS. Covariates included were age, sex, BMI, and American Society of Anesthesiology class. A total of 1,222 laparoscopic cholecystectomies were performed between 2017 and 2021. Of these, 87 (7%) were SC. Male (p < 0.001) and older (p < 0.001) patients were more likely to undergo SC. Odds of postoperative ERC were higher in the SC group (odds ratio 9.79, 95% CI 5.90 to16.23, p < 0.001). There was no difference in preoperative ERC (17% vs 21%, p = 0.38). Reconstituting SC had lower odds of postoperative ERC (odds ratio 0.12, 95% CI 0.023 to 0.58, p = 0.009). LOS was 1.81 times higher in the SC group (p ≤ 0.001). Postoperative ERC was not associated with LOS (p = 0.24). We present one of the largest single-center series of SC. Patients who underwent SC are more likely to be male, older, have higher American Society of Anesthesiology class, and have increased LOS. SC should be performed when access to ERC and interventional radiology is available. In the absence of these adjuncts, reconstituting SC decreases the need for early ERC, but long-term outcomes are unknown.

Concomitant sickle cell disease and systemic lupus erythematosus: A single-center case series.

Sickle cell disease (SCD) and systemic lupus erythematosus (SLE) are two uncommon disorders each characterized by multisystemic manifestations. Individuals with SCD exhibit abnormalities in the complement pathway, which may predispose patients to develop autoimmune disorders such as SLE. As many manifestations of SLE mimic those of SCD, diagnosis and therapeutic management of SLE in a patient with known SCD may be delayed. In this study, we describe our institutional experience of diagnosing and managing concomitant SCD and SLE. We offer insights into the complex interplay between these conditions to enhance early recognition and effective management of concurrent SCD and SLE.

Doing more with less: surgical results of pediatric posterior fossa tumors from a single center in Latin America.

We aim to report the epidemiology, surgical outcomes, and survival rates of pediatric patients with posterior fossa tumors in a large single-center case series. A retrospective analysis was conducted on pediatric patients who underwent surgical treatment for posterior fossa tumors between January 2011 and January 2019. A total of 135 pediatric patients, with an average age of 7.5years at diagnosis and a mean follow-up of 35.7months, were included in the study. Most tumors were located within the midline, with ventriculomegaly observed in 71.4% of the patients. Pilocytic astrocytomas encompassed the majority of tumors (34.1%), followed by medulloblastomas (27.4%) and ependymomas (11.8%). Gross total resection (GTR) was achieved in 71.8% of the patients, with a recurrence rate of 20%. Surgical complications were observed in 25.9% of the patients. GTR significantly impacted 5-year overall survival (OS) and 4-year progression-free survival (PFS) in patients with posterior fossa tumors. Patients who underwent GTR had a 5-year OS of 89.7%, compared to 72.7% for near-total resection and 70.8% for subtotal resection. The 4-year PFS for patients who underwent GTR was 82.5%, whereas it was 63.6% for patients who underwent near-total resection and 54.2% for patients who underwent subtotal resection. Surgical resection remains the main treatment for pediatric posterior fossa tumors, and higher resection rates are linked to better survival outcomes. Despite limited resources for molecular diagnosis, our institution has demonstrated that a specialized neurooncological center with a high surgical volume can still achieve favorable survival outcomes for these patients.

Detection of cell-free tumor DNA in cerebrospinal fluid as a diagnostic biomarker for leptomeningeal melanoma metastasis: A case series.

Leptomeningeal melanoma metastases (LMM) are associated with poor survival. Diagnosis is based on clinical presentation, brain MRI and cerebrospinal fluid (CSF) analysis. Inconclusive findings at initial presentation can delay treatment. In this single-center case series, detection of BRAFV600- and NRASQ61-mutant cell-free tumor DNA (cfDNA) in CSF was evaluated as a complementary diagnostic biomarker. In 12 patients with clinical suspicion of LMM, a retrospective analysis of MRI, CSF cytology and cfDNA analysis on 1 mL of CSF using the Idylla® platform was carried out. Nine patients displayed MRI abnormalities suggesting LMM. CSF analysis identified malignant cells in three patients (including one without MRI abnormalities). BRAFV600- or NRASQ61-mutant cfDNA was detected in CSF of nine patients (eight with and one without MRI abnormalities; all patients with positive CSF cytology). Subsequent follow-up confirmed LMM in all patients with positive and in one patient with a negative CSF cfDNA analysis (sensitivity 81.8%; specificity 100%). Our findings suggest that analyzing BRAFV600- and NRASQ61-mutant cfDNA in CSF using the Idylla® platform holds promise as a sensitive and specific complementary diagnostic biomarker for LMM, particularly in case of inconsistency between imaging and CSF cytology. The 110-min analysis can facilitate urgent treatment decisions.