Objective To evaluate the timing, trajectory, and implications of hypercalcemia in Williams-Beuren syndrome (WBS) through a multicenter retrospective study. Study design Data on plasma calcium levels from 232 subjects with WBS aged 0–67.1 years were compared with that in controls and also with available normative data. Association testing was used to identify relevant comorbidities. Results On average, individuals with WBS had higher plasma calcium levels than controls, but 86.7% of values were normal. Nonpediatric laboratories overreport hypercalcemia in small children. When pediatric reference intervals were applied, the occurrence of hypercalcemia dropped by 51% in infants and by 38% in toddlers. Across all ages, 6.1% of the subjects had actionable hypercalcemia. In children, actionable hypercalcemia was seen in those aged 5–25 months. In older individuals, actionable hypercalcemia was often secondary to another disease process. Evidence of dehydration, hypercalciuria, and nephrocalcinosis were common in both groups. Future hypercalcemia could not be reliably predicted by screening calcium levels. A subgroup analysis of 91 subjects found no associations between hypercalcemia and cardiovascular disease, gastrointestinal complaints, or renal anomalies. Analyses of electrogradiography data showed an inverse correlation of calcium concentration with corrected QT interval, but no acute life-threatening events were reported. Conclusions Actionable hypercalcemia in patients with WBS occurs infrequently. Although irritability and lethargy were commonly reported, no mortality or acute life-threatening events were associated with hypercalcemia and the only statistically associated morbidities were dehydration, hypercalciuria, and nephrocalcinosis.
Purpose: To determine the presence and characterize location of retinal vascular lesions in patients with hereditary hemorrhagic telangiectasia. Design: Prospective cross-sectional pilot descriptive study. Participants: Eighteen patients (age 22 to 65) with a clinical diagnosis of hereditary hemorrhagic telangiectasia. Methods: Patients completed the Visual Function Questionnaire-25 and underwent a single study visit with dilated ophthalmic examination, optical coherence tomography angiography (OCTA) and fluorescein angiography (FA) with widefield imaging. Main Outcome Measures: Presence of retinal vascular abnormalities in 1 or more quadrants identified on widefield FA, VFQ-25 scores, retinal vessel architecture on FA and OCTA, and dilated ophthalmic exam findings. Results: Of the 18 patients recruited, fine telangiectatic vessels with capillary dilation and tortuosity were identified in 78% by FA imaging. Conclusions: In the first FA and OCTA analysis of the retina of unrelated HHT subjects, we found a high rate of temporal and nasal telangiectasias. These telangiectasias were more apparent
Objective: To determine whether children with unilateral hearing loss (UHL) experience similar levels fatigue as children with bilateral hearing loss (BHL) or normal-hearing (NH). Design: Cross-sectional study. Setting: Two tertiary care otolaryngology practices. Participants: Children, 5 to 18 years old, with UHL or BHL and their parents. Main Outcome Measures: PedsQL Multidimensional Fatigue Scale (MFS) survey. Results: Overall response rate was 90/384 (23%). Mean age of child participants was 10.7 years old (standard deviations [SD] 3.1); 38 (42%) were men and 52 (58%) were women. Sixty-nine (77%) children had UHL, 21 (23%) had BHL. Children with BHL (mean 65, SD 21) and UHL (mean 75, SD 17) reported greater levels of fatigue than children with NH (BHL difference -15, 95% confidence interval [CI] -25 to -5; UHL difference -6, 95% CI -13-1.2). Parent-proxy reports for children with BHL (mean 67, SD 20) and UHL (mean 76, SD 20) reported more fatigue than NH (BHL difference -22, 95% CI -33 to -12; UHL difference -14; 95% CI -20 to -8). Sub-section scores for general, sleep, and cognitive fatigue were higher for children with BHL and UHL than NH. Conclusion and Relevance:Children with UHL and BHL reported significantly more fatigue than children with NH, and children with BHL reported more fatigue than UHL. These findings underscore the need to increase auditory rehabilitation and educational resources for children with UHL and support the use of the PedsQL MFS questionnaire as a measure to follow disability experienced by children with HL as they undergo hearing rehabilitation.
IMPORTANCE Patients with head and neck cancers have comorbidities and other constitutional symptoms known to be associated with adverse postoperative outcomes, but the role of functional performance is not well studied. OBJECTIVE To explore the addition of functional performance to other clinical factors for association with 3 patient outcomes: 30-day unplanned readmission (UR), 90-day medical complications, and overall survival (OS). DESIGN, SETTING, AND PARTICIPANTS This retrospective cohort study was conducted in a single tertiary care center with patients surgically treated for squamous cell cancer of the lip, oral cavity, pharynx, or larynx from January 2012 to December 2016. All analysis took place between January 2018 and November 2018. Data from 2 registries were analyzed, supplemented with medical record review. Logistic regression analysis was used to explore association of preoperative functional performance with outcomes. Conjunctive consolidation was used to create a useful clinical severity staging system, which included functional performance (estimated from metabolic equivalent [MET] score: <4, light-intensity activities; Ն4 at least moderate-intensity activities); overall comorbidity severity; preoperative weight loss; and TNM tumor staging. Logistic regression was used to assess the prognostic accuracy of the clinical severity staging system for 30-day UR and 90-day complications, and Cox proportional hazard regression for OS. EXPOSURES All patients underwent surgical treatment for head and neck cancer. MAIN OUTCOMES AND MEASURES The primary outcomes were 30-day UR and 90-day complications; the secondary outcome was OS. RESULTS For the 657 patients included, the mean (SD) age was 62.0 (11.3) years; 73% were men (n = 477), and 88% were white (n = 580). A total of 75 (11%) had a 30-day UR; 204 (31%) developed a 90-day complication; and 127 (19%) patients died during the observation period. Individually, poor functional performance (<4 METs), high comorbidity burden, preoperative weight loss, and advanced TNM stage were associated with all 3 outcomes; the increased risk for each outcome ranged from 1.5 to 3.0 times the reference range. Using these 4 variables in combination, the 4-category clinical severity staging system demonstrated a strong association between severity stage and all 3 adverse outcomes: 30-day UR (C statistic, 0.63), 90-day complications (C statistic, 0.63), and OS (C statistic, 0.68). CONCLUSIONS AND RELEVANCE Poor preoperative functional performance, high comorbidity burden, preoperative weight loss, and advanced tumor stage were all associated with worse patient outcomes after head and neck cancer surgery. The model incorporating all 4 of these factors developed in this study may facilitate patient-centered risk assessment and patient-physician shared preoperative decision making.
scite is a Brooklyn-based organization that helps researchers better discover and understand research articles through Smart Citations–citations that display the context of the citation and describe whether the article provides supporting or contrasting evidence. scite is used by students and researchers from around the world and is funded in part by the National Science Foundation and the National Institute on Drug Abuse of the National Institutes of Health.
customersupport@researchsolutions.com
10624 S. Eastern Ave., Ste. A-614
Henderson, NV 89052, USA
This site is protected by reCAPTCHA and the Google Privacy Policy and Terms of Service apply.
Copyright © 2024 scite LLC. All rights reserved.
Made with 💙 for researchers
Part of the Research Solutions Family.