Screening for VACTERL Anomalies in Children with Anorectal Malformations: Outcomes of a Standardized Approach

PurposeThe majority of patients with an anorectal malformation (ARM) have associated congenital anomalies. It is well established that all patients diagnosed with an ARM should undergo systematic screening, including renal, spinal, and cardiac imaging. This study aimed to evaluate the findings and completeness of screening, following local implementation of standardized protocols.MethodsA retrospective cohort study was performed assessing all patients with an ARM managed at our tertiary pediatric surgical center, following a standardized protocol implementation for VACTERL screening (January 2016–December 2021). Cohort demographics, medical characteristics, and screening investigations were analyzed. Findings were compared with our previously published data (2000–2015), conducted prior to protocol implementation.ResultsOne hundred twenty-seven (64 male, 50.4%) children were eligible for inclusion. Complete screening was performed in 107/127 (84.3%) children. Of these, one or more associated anomalies were diagnosed in 85/107 (79.4%), whilst the VACTERL association was demonstrated in 57/107 (53.3%). The proportion of children that underwent complete screening increased significantly in comparison with those assessed prior to protocol implementation (RR 0.43 [CI 0.27–0.66]; p < 0.001). Children with less complex ARM types were significantly less likely to receive complete screening (p = 0.028). Neither presence of an associated anomaly, nor prevalence of the VACTERL association, differed significantly by ARM type complexity.ConclusionScreening for associated VACTERL anomalies in children with ARM was significantly improved following standardized protocol implementation. The prevalence of associated anomalies in our cohort supports the value of routine VACTERL screening in all children with ARM, regardless of malformation type.Level of EvidenceII.     

Intravascular Ultrasound-Guided Transvenous Biopsy of Abdominal and Pelvic Targets Difficult to Access by Percutaneous Needle Biopsy: Technique and Initial Clinical Experience

PurposeTo report initial clinical experience with intravascular ultrasound (US)-guided transvenous biopsy (TVB) for perivascular target lesions in the abdomen and pelvis using side-viewing phased-array intracardiac echocardiography catheters.Materials and MethodsIn this single-institution, retrospective study, 48 patients underwent 50 intravascular US-guided TVB procedures for targets close to the inferior vena cava or iliac veins deemed difficult to access by conventional percutaneous needle biopsy (PNB). In all procedures, side-viewing phased-array intracardiac echocardiography intravascular US catheters and transjugular liver biopsy sets were inserted through separate jugular or femoral vein access sheaths, and 18-gauge core needle biopsy specimens were obtained under real-time intravascular US guidance. Diagnostic yield, diagnostic accuracy, and complications were analyzed.ResultsIntravascular US-guided TVB was diagnostic of malignancy in 40 of 50 procedures for a diagnostic yield of 80%. There were 5 procedures in which biopsy was correctly negative for malignancy, with a per-procedure diagnostic accuracy of 90% (45/50). Among the 5 false negatives, 2 patients underwent repeat intravascular US-guided TVB, which was diagnostic of malignancy for a per-patient diagnostic accuracy of 94% (45/48). There were 1 (2%) mild, 2 (4%) moderate, and 1 (2%) severe adverse events, with 1 moderate severity adverse event (venous thrombosis) directly attributable to the intravascular US-guided TVB technique.ConclusionsIntravascular US-guided TVB performed on difficult-to-approach perivascular targets in the abdomen and pelvis resulted in a high diagnostic accuracy, similar to accepted thresholds for PNB. Complication rates may be slightly higher but should be weighed relative to the risks of difficult PNB, surgical biopsy, or clinical management without biopsy.     

Narcolepsy in Slovakia – Epidemiology,clinical and polysomnographic features,comorbid diagnoses: a case-control study

ObjectiveAn increase in the incidence of narcolepsy after the pandemic influenza with the H1N1 vaccination in 2009 resulted in an interest in narcolepsy epidemiology. The aim of the study was to examine the incidence and prevalence rates of narcolepsy and to describe the associated characteristics in Slovakia.MethodsEpidemiology data were calculated for each year from 2000 to 2017 based on records found in specialized centres. In sum, 61 narcoleptic patients were diagnosed, of which 51 (84%) had narcolepsy type 1 (NT1). Clinical data and results of polysomnography (PSG), Human Leukocyte Antigen (HLA)-typing, hypocretin (HCRT)-1 levels and body mass index (BMI) were summarised and evaluated for NT1 and narcolepsy type2 (NT2). Later, 244 sex and age matched controls were chosen to evaluate the comorbid diagnoses.ResultsThe prevalence of narcolepsy in 2017 in Slovakia was 10.47 (CI 95% 8.26–14) cases/million inhabitants, and the mean incidence rate (2000–2017) was 0.57 (CI 95% 0.4–0.74) cases/million inhabitants.Narcoleptic patients were comorbid with arterial hypertension (17%), ischemic heart disease (8%), dyslipidaemia (18%), diabetes mellitus type 2 (10%), cardiac arrhythmia/atrial fibrillation (5%), autoimmune disorders (20%), allergy (11%), malignancy (3%), headache (15%) and mental disorders (20%). Patients with narcolepsy showed double the excess prevalence in mental disorders (OR 2.15, p < 0.05), and dyslipidaemia (OR 2.22, p < 0.05). The presence of autoimmune disorders and allergy showed a mild increase in the narcolepsy group (OR 1.46, resp. 1.63). Hashimoto thyroiditis (HT) was the most frequent autoimmune disorder.ConclusionsNarcolepsy is a rare disorder in Slovakia. From the phenotype, genetic characteristics and comorbidities the disorder does not vary from other European countries.     

A Comparison of Liver-Directed Therapy and Systemic Therapy for the Treatment of Liver Metastases in Patients with Gastrointestinal Neuroendocrine Tumors: Analysis of the California Cancer Registry

PurposeTo compare the outcomes of patients with gastrointestinal neuroendocrine tumor liver metastases treated with liver-directed therapy (LDT) to those treated with systemic therapy (ST) in a statewide cancer database.Materials and MethodsA retrospective study was performed of patients with metastatic gastrointestinal tract neuroendocrine tumors treated with either LDT or ST alone between the years 2000–2012 in the California Cancer Registry. Overall survival and disease-specific survival were assessed using multivariable Cox proportional hazards analysis and propensity score matching.ResultsA total of 154 patients (ST, n = 87 and LDT, n = 67) were studied. The median overall survival and disease-specific survival for patients that received ST was 29 and 35 months versus 51 and >60 months for patients that received LDT. On multivariate analysis, LDT and the resection of the primary tumor were associated with improved survival (hazard ratio [HR] 0.52, P = .002; HR 0.43, P = .001). Non-white race, Medicaid/uninsured status, and the presence of lung metastases were associated with poor survival (HR 1.76, P = .014; HR 2.29, P = .009; and HR 1.79, P = .031). Propensity score matching demonstrated an improvement in disease-specific survival for LDT compared to ST (HR 0.53, P = .036). The improvement in overall survival on propensity score matching did not achieve statistical significance (HR 0.70, P = .199).ConclusionsLDT is associated with improved overall and disease-specific survival as compared to ST in patients with gastrointestinal neuroendocrine tumor liver metastases. Further investigation is needed to determine whether combination or sequential treatment can improve outcomes in this population.     

Outcomes according to treatment using an established protocol in patients with bilateral Wilms' tumor: A national Canadian population-based study

BackgroundBilateral Wilms tumor (BWT) is a rare entity. The goal of this study is to report outcomes (overall and event-free survival, OS/EFS) of BWT in a large cohort representative of the Canadian population since 2000. We focused on the occurrence of late events (relapse or death beyond 18 months), as well as outcomes of patients treated following the only protocol specifically designed for BWT to date, AREN0534, compared to patients treated following other therapeutic schemes.MethodsData was obtained for patients diagnosed with BWT between 2001 and 2018 from the Cancer in Young People in Canada (CYP-C) database. Demographics, treatment protocols, and dates for events were collected. Specifically, we examined outcomes of patients treated according to the Children's Oncology Group (COG) protocol AREN0534 since 2009. Survival analysis was performed.Results57/816 (7%) of patients with Wilms tumor had BWT during the study period. Median age at diagnosis was 2.74 years (IQR 1.37–4.48) and 35 (64%) were female; 8/57 (15%) had metastatic disease. After a median follow-up of 4.8 years (IQR 2.8–5.7 years, range 0.2–18 years), OS and EFS were 86% (CI 73–93%) and 80% (CI 66–89%), respectively. Less than 5 events were recorded after 18 months from diagnosis. Since 2009, patients treated according to the AREN0534 protocol had a statistically significant higher OS compared to patients treated with other protocols.ConclusionsIn this large Canadian cohort of patients with BWT, OS and EFS compared favorably to the published literature. Late events were rare. Patients treated according to a disease-specific protocol (AREN0534) had improved overall survival.Type of studyOriginal article.Level of evidenceLevel IV.     

Predictive value of the coronary artery calcium score and advanced plaque characteristics: Post hoc analysis of the PREDICT registry

BackgroundWhether coronary plaque characteristics assessed in coronary computed tomography angiography (CCTA) in association with the coronary artery calcium score (CACS) have predictive value for coronary events is unclear. We aimed to examine the predictive value of the CACS and plaque characteristics for the occurrence of coronary events.MethodsAmong 2802 patients who were analyzed in the PREDICT registry, 2083 with suspected coronary artery disease (CAD) were studied using post hoc analysis. High-risk plaques were defined as having ≥2 adverse characteristics, such as low computed tomographic attenuation, positive remodeling, spotty calcification, and napkin-ring sign. An adjudicative composite of coronary events (cardiac death, nonfatal acute coronary syndrome, and coronary revascularization ≥3 months after indexed CCTA) were analyzed.ResultsSeventy-three (3.5%) patients had coronary events and 313 (15.0%) had high-risk plaques. Multivariate Cox proportional hazard analysis showed that high-risk plaques remained an independent predictor of coronary events (adjusted hazard ratio [HR] 1.95, 95% confidence interval [CI] 1.13–3.34, P ?= ?0.0154), as well as the log-transformed CACS (adjusted HR 1.24, 95% CI 1.11–1.39, P ?= ?0.0002) and the presence of obstructive stenosis (adjusted HR 5.63, 95% CI 3.22–10.12, P 0.0001). In subgroup analyses, high-risk plaques were independently predictive only in the low CACS class (<100).ConclusionThis study shows that assessment of adverse features by coronary plaque imaging independently predicts coronary events in patients with suspected CAD and a low CACS. Our findings suggest that the clinical value of high-risk plaques to CACS and stenosis assessment appears marginal.     

Effectiveness of Botulinum Toxin A in Treatment of Hemiplegic Shoulder Pain: A Systematic Review and Meta-analysis

ObjectiveTo evaluate the effectiveness of botulinum toxin A (BTX-A) in the treatment of hemiplegic shoulder pain.Data SourcesPubMed, EMBASE, Elsevier, Springer, Cochrane Library, Physiotherapy Evidence Database, CNKI, and VIP were researched from the earliest records to September 1, 2020.Study SelectionRandomized controlled trials that compared shoulder BTX-A injections vs a control intervention in patients with a history of hemiplegic shoulder pain after stroke were selected. Among the 620 records screened, 9 trials with 301 eligible patients were included.Data ExtractionOutcome data were pooled according to follow-up intervals (1, 2, 4, and 12 wk). The primary evaluation indices were pain reduction (visual analog scale [VAS] score) and range of motion (ROM) improvement. The second evaluation indices were upper limb functional improvement, spasticity improvement, and incidence of adverse events. Cochrane risk-of-bias was used to assess the methodological quality of studies independently by 2 evaluators.Data SynthesisMeta-analysis revealed a statistically significant decrease in the VAS score in the BTX group vs the control group at 1, 4, and 12 weeks postinjection (wk 1: standardized mean difference [SMD], 0.91; 95% confidence interval [CI], 0.27 to 1.54; wk 4: SMD, 1.63; 95% CI, 0.76 to 2.51; wk 12: SMD, 1.96; 95% CI, 1.44 to 2.47). Furthermore, the meta-analysis demonstrated a statistically significant increase in abduction at 1, 4, and 12 weeks postinjection (wk 1: SMD, 3.71; 95% CI, 0 to 7.41; wk 4: SMD, 8.8; 95% CI, 2.22 to 15.37; wk 12: SMD, 19.59; 95% CI, 9.05 to 30.13) and external rotation at 1, 2, 4 weeks postinjection (wk 1: SMD, 5.67; 95% CI, 0.88 to 10.47; wk 2: SMD, 9.62; 95% CI, 5.57 to 13; wk 4: SMD, 6.89; 95% CI, 2.45 to 11.33) in the BTX group.ConclusionsBTX-A injection provided greater analgesic effects and increased shoulder abduction and external rotation ROM compared with steroid or placebo injection for the treatment of HSP.