A genetic study of a Brazilian cohort of patients with X-linked hypophosphatemia reveals no correlation between genotype and phenotype.

Aim: X-linked hypophosphatemia (XLH) is the most common inherited form of rickets, and it is caused by pathogenic inactivating variants of the phosphate-regulating endopeptidase homolog X-linked (PHEX) gene. The main purpose of this study is to identify the presence of a genotype-phenotype correlation in a cohort of XLH patients. Methods: This is a retrospective study including patients diagnosed with hypophosphatemic rickets, confirmed by clinical, radiological, and laboratory findings. Medical records were reviewed for phenotypic analyses. Genomic DNA was extracted from the peripheral blood lymphocytes, and PHEX sequencing was performed by exomic NGS sequencing. The Wilcoxon rank-sum test and the two-tailed Fisher's exact test were employed for the statistical analyses of this study. Results: A total of 41 patients were included in this study, and 63.41% (26/41) of the patients were female. The mutation analyses identified 29.27% missense variants and 29.72% nonsense variants, most of them were considered deleterious (66.41%). Six novel deleterious variants in the PHEX gene were detected in seven patients. The median concentrations of pretreatment serum calcium, phosphorus, and parathyroid hormone (PTH) were not significantly different among patients with different genotypes. An orthopedic surgery due to bone deformity was required in 57.69%. Conclusions: Our analysis did not identify any specific genotype as a predictor. No significant genotype-phenotype correlation was found, suggesting that the recognition of subjacent pathogenic mutation in the PHEX gene may have limited prognostic value. Despite this finding, genetic testing may be useful for identifying affected individuals early and providing appropriate treatment.

Decreasing inconsistent alarms notifications: a pragmatic clinical trial in a post-anesthesia care unit.

BACKGROUND: Alarms alert healthcare professionals of deviations from normal/physiologic status. However, alarm fatigue may occur when their high pitch and diversity overwhelm clinicians, possibly leading to alarms being disabled, paused, and/or ignored. We aimed to determine whether a staff educational program on customizing alarm settings of bedside monitors may decrease inconsistent alarms in the Post-Anesthesia Care Unit (PACU). METHODS: This is a prospective, analytic, quantitative, pragmatic, open-label, single-arm study. The outcome was evaluated on PACU admission before (P1) and after (P2) the implementation of the educational program. The heart rate, blood pressure, and oxygen saturation alarms were selected for clinical consistency. RESULTS: A total of 260 patients were included and 344 clinical alarms collected, with 270 (78.4%) before (P1), and 74 (21.6%) after (P2) the intervention. Among the 270 alarms in P1, 45.2% were inconsistent (i.e., false alarms), compared to 9.4% of the 74 in P2. Patients with consistent alarms occurred in 30% in the P1 and 27% in the P2 (p = 0.08). Patients with inconsistent alarms occurred in 25.4% in the P1 and in 3.8% in the P2. Ignored consistent alarms were reduced from 21.5% to 2.6% (p = 0.004) in the P2 group. The educational program was a protective factor for the inconsistent clinical alarm (OR = 0.11 [95% CI 0.04-0.3]; p < 0.001) after adjustments for age, gender, and ASA physical status. CONCLUSION: Customizing alarm settings on PACU admission proved to be a protective factor against inconsistent alarm notifications of multiparametric monitors.

Relationship between perioperative semaglutide use and residual gastric content: A retrospective analysis of patients undergoing elective upper endoscopy.

STUDY OBJECTIVE: Semaglutide is a long-acting glucagon-like peptide-1 receptor agonist used for management of type 2 diabetes and/or obesity. To test the hypothesis that perioperative semaglutide use is associated with delayed gastric emptying and increased residual gastric content (RGC) despite adequate preoperative fasting, we compared the RGC of patients who had and had not taken semaglutide prior to elective esophagogastroduodenoscopy. The primary outcome was the presence of increased RGC. DESIGN: Single-center retrospective electronic chart review. SETTING: Tertiary hospital. PATIENTS: Patients undergoing esophagogastroduodenoscopy under deep sedation/general anesthesia between July/2021-March/2022. INTERVENTIONS: Patients were divided into two (SG = semaglutide, NSG = non-semaglutide) groups, according to whether they had received semaglutide within 30 days prior to the esophagogastroduodenoscopy. MEASUREMENTS: Increased RGC was defined as any amount of solid content, or > 0.8 mL/Kg (measured from the aspiration/suction canister) of fluid content. MAIN RESULTS: Of the 886 esophagogastroduodenoscopies performed, 404 (33 in the SG and 371 in the NSG) were included in the final analysis. Increased RGC was observed in 27 (6.7%) patients, being 8 (24.2%) in the SG and 19 (5.1%) in the NSG (p < 0.001). Semaglutide use [5.15 (95%CI 1.92-12.92)] and the presence of preoperative digestive symptoms (nausea/vomiting, dyspepsia, abdominal distension) [3.56 (95%CI 2.2-5.78)] were associated with increased RGC in the propensity weighted analysis. Conversely, a protective [0.25 (95%CI 0.16-0.39)] effect against increased RGC was observed in patients undergoing esophagogastroduodenoscopy combined with colonoscopy. In the SG, the mean time of preoperative semaglutide interruption in patients with and without increased RGC was 10.5 ± 5.5 and 10.2 ± 5.6 days, respectively (p = 0.54). There was no relationship between semaglutide use and the amount/volume of RGC found on esophagogastroduodenoscopy (p = 0.99). Only one case (in the SG) of pulmonary aspiration was reported. CONCLUSIONS: Semaglutide was associated with increased RGC in patients undergoing elective esophagogastroduodenoscopy. Digestive symptoms prior to esophagogastroduodenoscopy were also predictive of increased RGC.

Coronavirus disease-related in-hospital mortality: a cohort study in a private healthcare network in Brazil.

COVID-19-related in-hospital mortality has been reported at 30.7-47.3% in Brazil, however studies assessing exclusively private hospitals are lacking. This is important because of significant differences existing between the Brazilian private and public healthcare systems. We aimed to determine the COVID-19-related in-hospital mortality and associated risk factors in a Brazilian private network from March/2020 to March/2021. Data were extracted from institutional database and analyzed using Cox regression model. Length of hospitalization and death-related factors were modeled based on available independent variables. In total, 38,937 COVID-19 patients were hospitalized of whom 3058 (7.8%) died. Admission to the intensive care unit occurred in 62.5% of cases, and 11.5% and 3.8% required mechanical ventilation (MV) and renal replacement therapy (RRT), respectively. In the adjusted model, age ≥ 61 years-old, comorbidities, and the need for MV and/or RRT were significantly associated with increased mortality (p < 0.05). Obesity and hypertension were associated with the need for MV and RRT (p < 0.05).

An evaluation of the accuracy and self-reported confidence of clinicians in using the ASA-PS Classification System.

OBJECTIVES: The American Society of Anesthesiologists Physical Status (ASA-PS) is a grading system routinely adopted worldwide by physicians to classify patients' overall health status. Concerns have been raised surrounding the subjectiveness of this system, potentially leading to poor inter-rater agreement/reliability. We hypothesized that physicians are overconfident when assigning ASA-PS scores and that presenting them with the ASA-PS definitions/examples would improve accuracy. We therefore evaluated participants' accuracy and self-reported confidence on the ASA-PS Classification System (1) while assigning ASA-PS according to their baseline knowledge/judgment; and (2) after a single exposure to the ASA-PS definitions/examples. DESIGN: Prospective before-and-after web-based study. PARTICIPANTS: 272 anesthesiologists and 114 non-anesthesiologists. INTERVENTIONS: Participants voluntarily answered a web-based questionnaire consisting of 10 hypothetical cases. They were asked to assign an ASA-PS score and rate their perceived self-confidence level (20-100%) on the accuracy of their assigned score for each case both (1) before and (2) after reviewing the ASA-PS definitions/examples. The correct ASA-PS for each hypothetical case was determined by consensus among investigators. MEASUREMENTS: Participants' accuracy, self-reported confidence, and calibration of confidence on the application of ASA-PS Classification System. Agreement between measures was tested using kappa coefficient. RESULTS: Anesthesiologists had better accuracy than non-anesthesiologists both on initial [6(5-7) vs. 4(3-5) out of 10; p < 0.001] as well as subsequent [7(6-8) vs. 6(4-7); p < 0.001] ASA-PS score assignments. Participants' self-reported confidence was greater than their accuracy for assigned ASA-PS scores (p < 0.001). ASA-PS agreement between anesthesiologists and non-anesthesiologists was poor (κ < 0.20). Participants' accuracy for hypothetical cases of ASA-PS I, II, and III involving adult patients was overall greater than for ASA-PS IV, V, and III (the latter involving a neonate) for both anesthesiologists and non-anesthesiologists (p < 0.001). CONCLUSIONS: Physicians tend to disagree and be overconfident when assigning ASA-PS scores. A brief consultation of the ASA-PS definitions/examples improves the accuracy for both anesthesiologists and non-anesthesiologists.

Sensitivity and specificity of waveform analysis for assessing postoperative epidural function.

STUDY OBJECTIVES: To characterize the accuracy of epidural waveform analysis (EWA) in assessing the functionality of thoracic epidural catheters in the immediate postoperative period (primary objective), and to determine the inter-rater reliability between EWA waveform observers (secondary outcome). DESIGN: Single center, prospective diagnostic accuracy cohort study. SETTING: Post-anesthetic care unit of a university teaching hospital. PATIENTS: 84 adult patients undergoing elective thoracic, gynecologic, vascular, urologic, or general surgery with preoperative placement of a thoracic epidural catheter for perioperative analgesia. INTERVENTIONS: EWA tracings were video recorded in the immediate postoperative period through the epidural catheter in the post-anesthetic care unit. MEASUREMENTS: Postoperative EWA tracings were compared with clinical assessments of the sensory block to ice produced by epidural local anesthetic in the immediate postoperative period. Additionally, intra-class correlation analysis of agreement between 3 independent (and blinded) EWA waveform observers was carried out. RESULTS: Among 80 patients with thoracic epidurals who completed the study protocol, 73 demonstrated postoperative functional epidurals with sensory block to ice and 7 demonstrated non-functional epidurals. EWA yielded 65 true positives, 6 true negatives, 8 false negatives, and 1 false positive. Postoperative EWA sensitivity, specificity, positive predictive value and negative predictive value, along with the 95% confidence intervals (CI) were 89% (79-95%), 86% (42-100%), 98% (92-100%), and 43% (18-71%) respectively. Intra-class correlation between waveform assessors was 0.870 (95% CI 0.818-0.910, p < 0.001). CONCLUSIONS: EWA is useful in assessing the position of thoracic epidural catheters in the immediate postoperative period, demonstrating high sensitivity and specificity as well as robust inter-rater reliability. For patients in whom sensory block to ice cannot be reliably assessed postoperatively, EWA may provide a useful adjunct for assessing epidural functionality.

Comparison of strategies for adherence to venous thromboembolism prophylaxis in high-risk surgical patients: a before and after intervention study.

BACKGROUND: Venous thromboembolism (VTE) is a major cause of perioperative morbimortality. Despite significant efforts to advance evidence-based practice, prevention rates remain inadequate in many centres. OBJECTIVE: To evaluate the effectiveness of different strategies aimed at improving adherence to adequate VTE prophylaxis in surgical patients at high risk of VTE. METHOD: Before and after intervention study conducted at a tertiary hospital. Adherence to adequate VTE prophylaxis was compared according to three strategies consecutively implemented from January 2019 to December 2020. A dedicated hospitalist physician alone (strategy A) or in conjunction with a nurse (strategy B) overlooked the postoperative period to ensure adherence and correct inadequacies. Finally, a multidisciplinary team approach (strategy C) focused on promoting adequate VTE prophylaxis across multiple stages of care-from the operating room (ie, preoperative team-based checklist) to collaboration with clinical pharmacists in the postoperative period-was implemented. RESULTS: We analysed 2074 surgical patients: 783 from January to June 2019 (strategy A), 669 from July 2019 to May 2020 (strategy B), and 622 from June to December 2020 (strategy C). VTE prophylaxis adherence rates for strategies (A), (B) and (C) were (median (25th-75th percentile)) 43.29% (31.82-51.69), 50% (42.57-55.80) and 92.31% (91.38-93.51), respectively (p<0.001; C>A=B). There was a significant reduction in non-compliance on all analysed criteria (risk stratification (A (25.5%), B (22%), C (6%)), medical documentation (A (68%), B (55.2%) C (9%)) and medical prescription (A (51.85%), B (48%), C (6.10%)) after implementation of strategy C (p<0.05). Additionally, a significant increase in compliance with adequate dosage, dosing interval and scheduling of the prophylactic regimen was observed. CONCLUSION: Perioperative VTE prophylaxis strategies that relied exclusively on physicians and/or nurses were associated with suboptimal execution and prevention. A multidisciplinary team-based approach that covers multiple stages of patient care significantly increased adherence to adequate VTE prophylaxis in surgical patients at high risk of developing perioperative VTE.

Analgesic efficacy of a portable, disposable, and self-applied transcutaneous electrical nerve stimulation device during migraine attacks: A real-life randomized controlled trial.

OBJECTIVE: The objective of this study was to evaluate the analgesic efficacy of a portable, disposable, and home self-applied transcutaneous electrical nerve stimulation (TENS) device during migraine attacks. BACKGROUND: TENS has been used as a noninvasive treatment for migraine, but there are no reports on the outcomes following use of this treatment option for use at home during migraine attacks. DESIGN AND METHODS: A double-blind, randomized controlled trial was conducted over 3 months, with monthly assessments. Active placebos (sham group) were in place and were allocated at a 1:1 ratio. Adult patients who had been diagnosed with migraine by a specialist were included. Pain intensity levels and functional disability were measured before and after the 20-min self-applied TENS intervention during the migraine attacks. RESULTS: Seventy-four participants were randomly allocated to the sham and intervention groups. Although both groups of subjects reported lower pain scores, the intervention group showed a statistically significant reduction in pain scores compared to the sham group. CONCLUSION: In our controlled trial, the use of a self-applied, TENS device is safe and effective in relieving pain associated with migraine attacks. Participants in the intervention group showed a statistically significant improvement in pain and functional disability scores. TENS has been used as a noninvasive treatment for migraine, but there are no reports on the outcomes following use of this treatment option for use at home during migraine attacks. This double-blind, randomized controlled trial had 2 groups: active-placebo and intervention. Seventy-four participants were randomly allocated. Participants in the intervention group showed a statistically significant improvement in pain and functional disability scores.

Orotracheal intubation incorporating aerosol-mitigating strategies by anaesthesiologists, intensivists and emergency physicians: a simulation study.

Background: Orotracheal intubation (OTI) can result in aerosolisation leading to an increased risk of infection for healthcare providers, a key concern during the COVID-19 pandemic. Objective: This study aimed to evaluate the OTI time and success rate of two aerosol-mitigating strategies under direct laryngoscopy and videolaryngoscopy performed by anaesthesiologists, intensive care physicians and emergency physicians who were voluntarily recruited for OTI in an airway simulation model. Methodology: The outcomes were successful OTI, degree of airway visualisation and time required for OTI. Not using a stylet during OTI reduced the success rate among non-anaesthesiologists and increased the time required for intubation, regardless of the laryngoscopy device used. Results: Success rates were similar among physicians from different specialties during OTI using videolaryngoscopy with a stylet. The time required for successful OTI by intensive care and emergency physicians using videolaryngoscopy with a stylet was longer compared with anaesthesiologists using the same technique. Videolaryngoscopy increased the time required for OTI among intensive care physicians compared with direct laryngoscopy. The aerosol-mitigating strategy under direct laryngoscopy with stylet did not increase the time required for intubation, nor did it interfere with OTI success, regardless of the specialty of the performing physician. Conclusions: The use of a stylet within the endotracheal tube, especially for non-anaesthesiologists, had an impact on OTI success rates and decreased procedural time.

Enzyme biomarkers of renal tubular injury in arterial surgery patients.

OBJECTIVE: The aim of this study was to verify whether preoperative diabetes, hypertension, and renal function had any relationship with postoperative tubule function in patients submitted to anesthesia for arterial surgery. METHODS: Prospective observational study. One hundred and forty-four patients submitted to anesthesia for arterial surgery enrolled consecutively and divided into four groups: G1--diabetes and hypertension; G2--diabetes; G3--hypertension; and G4--without hypertension or diabetes. Urine was obtained for laboratory analysis of urinary creatinine (Ucr), alkaline phosphatase (AP), γ-glutamyltransferase (γGT), and blood for cystatin C and creatinine before the surgery (M1) and 24 h after the surgery (M2). RESULTS: Values of γGT, γGT/Ucr, and AP × Î³GT/Ucr increased at M2 in G4. Patients without renal function compromise (GFR ≥90 mL/min/1.73 m(2)) presented increased γGT/Ucr and AP × Î³GT/Ucr values at M2 and those with slightly compromised renal function (60-89 mL/min/1.73 m(2)) presented increased γGT values at M2. There was no correlation between deltaCystatin C and deltaAP, deltaγGT, deltaγGT/Ucr, deltaAP/Ucr, and deltaAP × Î³GT/Ucr. CONCLUSIONS: Diabetes, hypertension, and preoperative renal function seem to interfere in tubular enzymuria immediately after surgery in arteriopathic patients. However, when these markers do not increase in postoperative period, renal dysfunction cannot be discarded.

[Prevalence of infection by Leishmania chagasi using ELISA (rK39 and CRUDE) and the Montenegro skin test in an endemic leishmaniasis area of Maranhão, Brazil]. / Prevalência de infecção por Leishmania chagasi utilizando os métodos de ELISA (rK39 e CRUDE) e intradermorreação de Montenegro em área endêmica do Maranhão, Brasil.

A prospective study was undertaken in 1,520 children less than 15 years of age in São José de Ribamar, Maranhão, Brazil, from June 1994 to January 1995, to evaluate the prevalence and characteristics (socioeconomic, environmental, and behavioral) associated with infection by Leishmania chagasi. Montenegro skin test (MST) and enzyme-linked immunosorbent assay (ELISA-rK39 and CRUDE) test were used to detect infection. The statistical analysis used the chi2 test with Yates correction and a p value less than 0.05 was considered statistically significant. Prevalence of infection was 61.7% as measured by MST, 19.4% according to ELISA (rK39), and 19.7% by ELISA (CRUDE). Association was detected between leishmaniasis in the family, water supply, application of insecticide, and infection by L. chagasi using MST. No association with infection by L. chagasi was detected using ELISA rK39 or CRUDE. More effective control measures are needed to reduce prevalence and to detect asymptomatic cases in this high percentage of infected children.