A Children's Rights Framework for Genomic Medicine: Newborn Screening as a Use Case.

The year 2023 marked the 60th anniversary of screening newborns in the United States for diseases that benefit from early identification and intervention. All around the world, the goal of NBS is to facilitate timely diagnosis and management to improve individual health outcomes in all newborns regardless of their place of birth, economic circumstances, ability to pay for treatment, and access to healthcare. Advances in technology to screen and treat disease have led to a rapid increase in the number of screened conditions, and innovations in genomics are expected to exponentially expand this number further. A system where all newborns are screened, coupled with rapid technological innovation, provides a unique opportunity to improve pediatric health outcomes and advance children's rights, including the unique rights of sick and disabled children. This is especially timely as we approach the 100th anniversary of the 1924 Geneva Declaration of the Rights of the Child, which includes children's right to healthcare, and the 1989 United Nations Convention on the Rights of the Child that expanded upon this aspect and affirmed each child's right to the highest attainable standard of health. In this manuscript, we provide background on the evolving recognition of the rights of children and the foundational rights to healthcare and non-discrimination, provide two examples that highlight issues to access and equity in newborn screening that may limit a child's right to healthcare and best possible outcomes, detail ways the current approach to newborn screening advances the rights of the child, and finally, propose that the incorporation of genomics into newborn screening presents a useful case study to recognize and uphold the rights of every child.

Anatomic femoral tunnel and satisfactory clinical outcomes achieved with the modified transtibial technique in anterior cruciate ligament reconstruction: A systematic review and meta-analysis.

Background: Anatomic anterior cruciate ligament (ACL) reconstruction is considered the gold standard treatment for ACL injuries because it aims to restore the knee's normal anatomy and stability, while also protecting long-term knee health. Long-term clinical and radiological outcomes after ACL reconstruction using the modified TT technique are unclear. Objective: To assess the clinical and radiological outcomes following ACL reconstruction using modified transtibial (TT) techniques at a minimum 12-month follow-up. Design: A systematic review with meta-analysis. Methods: PubMed, EMBASE, Web of Science, the Cochrane Library, and MEDLINE databases were searched from the inception to December 1, 2022. PICO search strategy was used to identify studies applying modified TT techniques on patients with ACL reconstruction and a minimum follow-up of 12 months. Eligible studies were identified independently by two reviewers. We extracted data on patient demographics, surgical characteristics, patient reported outcomes including subjective evaluations and clinical outcomes. Radiological data including femoral and tibial tunnel position, femoral and tibial tunnel length, and femoral tunnel angle were also extracted. The tunnel position was evaluated using the quadrant method based on three-dimensional computed tomography (3D CT) images. The standardized mean difference (SMD) and 95 % confidence interval (CI) were calculated for clinical and radiological outcomes. Results: Sixteen studies involving 628 patients were finally included. The SMD of Lysholm (90.39; 95 % CI 83.41-97.38), IKDC (86.07; 95 % CI 79.84-92.31), and Tegner (6.15; 95 % CI 3.96-8.33) scores were considered satisfactory. The depth of the femoral tunnel showed a pooled SMD of 30.08 % (95 % CI 28.25-31.91 %), and the height showed a pooled SMD of 37.72 % (95 % CI 35.75-39.70 %). The pooled SMD for the femoral tunnel angle in the coronal plane was 48.27°(95 % CI 43.14-53.40°), and the pooled SMD for the femoral tunnel length was 33.98 mm (95 % CI 29.03-38.93 mm). Conclusions: This investigation has shown that modified TT technique can create an anatomic femoral tunnel and maintain optimal tunnel length and angulation. Most patients had satisfactory subjective outcomes and physical examinations after ACL reconstruction using modified TT technique. This information may assist in guiding expectations of clinicians and patients following ACL reconstruction with modified TT technique.

Effects of Metabolic Syndrome on Pregnancy Outcomes in Women Without Polycystic Ovary Syndrome.

Context: Metabolic syndrome (MetS) is a cluster of metabolic risk factors that predict cardiovascular disease. Previous studies suggested that MetS impaired clinical outcomes in women with polycystic ovary syndrome (PCOS) undergoing in vitro fertilization (IVF). Objective: To evaluate the effects of MetS on IVF/intracytoplasmic sperm injection (ICSI) outcomes in women without PCOS. Methods: This retrospective study collected 8539 eligible women without PCOS who came for their first cycle of IVF/ICSI to the Institute of Women, Children and Reproductive Health, Shandong University, from 2017 to 2020, including 1147 subjects in the MetS group and 7392 in the control group. The primary outcome was live birth. Secondary outcomes included other pregnancy outcomes and the risk of maternal and neonatal complications. Results: Women in the MetS group had a lower live birth rate (50.6% vs 54.9%, adjusted odds ratio [aOR] 0.87, 95% CI 0.75-1.00, P = .045) and higher risks of late miscarriage (5.8% vs 3.3%, aOR 1.52, 95% CI 1.02-2.27, P = .041), gestational diabetes mellitus (13.7% vs 7.0%, aOR 1.84, 95% CI 1.30-2.60, P = .001), hypertensive disorder of pregnancy (7.8% vs 3.5%, aOR 1.79, 95% CI 1.14-2.83, P = .012), and preterm birth (9.0% vs 4.4%, aOR 2.03, 95% CI 1.33-3.08, P = .001). Singleton newborns in the MetS group were at higher risk of large for gestational age (33.3% vs 20.5%, aOR 1.66, 95% CI (1.31-2.13), P < .001) but at lower risk of small for gestational age (2.7% vs 6.2%, aOR 0.48, 95% CI 0.25-0.90, P = .023). Conclusion: MetS was associated with adverse IVF/ICSI outcomes in women without PCOS.

Place-based, intersectional variation in caregiving patterns and health outcomes among informal caregivers in the United States.

Introduction: Informal caregiving is a critical component of the healthcare system despite numerous impacts on informal caregivers' health and well-being. Racial and gender disparities in caregiving duties and health outcomes are well documented. Place-based factors, such as neighborhood conditions and rural-urban status, are increasingly being recognized as promoting and moderating health disparities. However, the potential for place-based factors to interact with racial and gender disparities as they relate to caregiving attributes jointly and differentially is not well established. Therefore, the primary objective of this study was to jointly assess the variability in caregiver health and aspects of the caregiving experience by race/ethnicity, sex, and rural-urban status. Methods: The study is a secondary analysis of data from the 2021 and 2022 Behavioral Risk Factor Surveillance System (BRFSS) from the Centers for Disease Control and Prevention. Multivariable logistic regression or Poisson regression models assessed differences in caregiver attributes and health measures by demographic group categorized by race/ethnicity, sex, and rural-urban status. Results: Respondents from rural counties were significantly more likely to report poor or fair health (23.2% vs. 18.5%), have obesity (41.5% vs. 37.1%), and have a higher average number of comorbidities than urban caregivers. Overall, rural Black male caregivers were 43% more likely to report poor or fair health than White male caregivers (OR 1.43, 95% CI 1.21, 1.69). Urban female caregivers across all racial groups had a significantly higher likelihood of providing care to someone with Alzheimer's disease than rural White males (p < 0.001). Additionally, there were nuanced patterns of caregiving attributes across race/ethnicity*sex*rural-urban status subgroups, particularly concerning caregiving intensity and length of caregiving. Discussion: Study findings emphasize the need to develop and implement tailored approaches to mitigate caregiver burden and address the nuanced needs of a diverse population of caregivers.

Maternal symptoms of depression and anxiety as modifiers of the relationship between prenatal phthalate exposure and infant neurodevelopment in the Atlanta African American maternal-child cohort.

Background: Prenatal exposure to phthalates, a group of synthetic chemicals widely used in consumer products, has previously been associated with adverse infant and child development. Studies also suggest that maternal depression and anxiety, may amplify the harmful effects of phthalates on infant and child neurodevelopment. Study design: Our analysis included a subset of dyads enrolled in the Atlanta African American Maternal-Child Cohort (N = 81). We measured eight phthalate metabolites in first and second trimester (8-14 weeks and 24-32 weeks gestation) maternal urine samples to estimate prenatal exposures. Phthalate metabolite concentrations were averaged across visits and natural log-transformed for analysis. Maternal symptoms of depression and anxiety were assessed using validated questionnaires (Edinberg Postnatal Depression Scale and State Trait Anxiety Inventory, respectively) and the total score on each scale was averaged across study visits. The NICU Network Neurobehavioral Scale (NNNS) was administered at two weeks of age. Our primary outcomes included two composite NNNS scores reflecting newborn attention and arousal. Linear regression was used to estimate associations between individual phthalate exposures and newborn attention and arousal. We assessed effect modification by maternal depression and anxiety. Results: Higher levels of urinary phthalate metabolites were not associated with higher levels of infant attention and arousal, but true associations may still exist given the limited power of this analysis. In models examining effect modification by maternal depression, we observed that an interquartile range increase in mono (2-ethlyhexyl) phthalate (MEHP), mono (2-ethyl-5-oxohexyl) phthalate (MEOHP), and mono (2-ethyl-5-hydroxyhexyl) phthalate (MEHHP) was associated with a significant increase in newborn arousal only among those with high depressive symptoms (MEHP: ß = 0.71, 95% confidence interval [CI] = 0.10, 1.32 for high, ß = -0.30, 95% CI = -0.73, 0.12 for low; MEOHP: ß = 0.60, 95% CI = -0.03, 1.23 for high, ß = -0.12, 95% CI = -0.58, 0.33 for low; MEHHP: ß = 0.54, 95% CI = -0.04, 1.11 for high, ß = -0.11, 95% CI = -0.54, 0.32 for low). Similar patterns were observed in models stratified by maternal anxiety, although CIs were wide. Conclusion: Our results suggest maternal anxiety and depression symptoms may exacerbate the effect of phthalates on infant neurodevelopment. Future studies are needed to determine the optimal levels of attention and arousal in early infancy.

Predictive Factors for Poor Outcomes Associated with COVID-19 in a Retrospective Cohort of Myasthenia Gravis Patients.

Purpose: To investigate the predictors for poor outcomes (including disease exacerbation, hospitalization and myasthenic crisis) in patients with pre-existing myasthenia gravis (MG) following Coronavirus disease 2019 (COVID-19), and to explore the potential effects of COVID-19 on inflammatory and immune responses in MG patients. Patients and Methods: This retrospective cohort study analyzed medical records of 845 MG patients who were diagnosed with COVID-19 between January 2020 to March 2023 at a single medical center. Results: Generalized MG at onset and comorbidities (chronic kidney disease and malignancy) were independent risk factors of poor outcomes. Patients achieving minimal manifestation or better status before COVID-19 had a significantly reduced risk for poor outcomes. Furthermore, patients with older onset age or anti-acetylcholine receptor antibody had a higher risk of exacerbation and hospitalization than those without. Prednisone or immunosuppressant treatment had the potential to reduce the occurrence of poor outcomes, while the duration of prednisone or immunosuppressant usage was associated with a higher risk of poor outcomes. Of the 376 MG patients with blood results available, patients with COVID-19 tended to have higher levels of leukocyte counts, neutrophil-lymphocyte-ratio, hypersensitive C-reactive protein, and Interleukin-6, as well as lower percentages of lymphocytes and regulatory T cells compared to patients without COVID-19. Conclusion: Disease severity at onset, comorbidities, and unsatisfactory control of myasthenic symptoms predicted the occurrence of poor outcomes in MG patients following COVID-19. The risk of poor outcomes was reduced in patients controlled by short-term immunosuppressive therapy. Novel coronavirus might affect inflammatory and immune responses in MG patients, particularly in altering interleukin-6 and regulatory T cell levels.

Early clearance of BK polyomavirus-DNAemia among kidney transplant recipients may lead to better graft survival.

INTRODUCTION: BK polyomavirus (BKPyV)-DNAemia is a common complication in kidney transplant recipients (KTRs). The significance of achieving viral clearance at different time intervals is not well understood. METHODS: All adult KTRs transplanted between January 1, 2015 and December 31, 2017 who developed BKPyV-DNAemia were included. Outcomes were analyzed based on persistent clearance of BKPyV-DNAemia at 3-month intervals up to 2 years after initial detection, and for recipients with persistent BKPyV-DNAemia at last follow-up. Uncensored graft failure, death-censored graft failure (DCGF), and a composite outcome of DCGF or fall in estimated glomerular filtration rate (eGFR) by ≥50% from the time of initial BKPyV-DNAemia were outcomes of interest. RESULTS: Of 224 KTRs with BKPyV-DNAemia, 58 recipients (26%) achieved viral clearance by 3 months after initial detection, 105 (47%) by 6 months, 120 (54%) by 9 months, 141 (63%) by 12 months, 155 (69%) by 15 months, 167 (75%) by 18 months, 180 (80%) by 21 months, and 193 (86%) by 24 months. Nine recipients (4%) had persistent BKPyV-DNAemia at last follow-up. Compared to recipients who achieved viral clearance by 3 months, those who achieved clearance by 6 months (adjusted odds ratio [aOR]: 3.15; 95% confidence interval [CI]: 1.22-8.12; p = .02) and 9 months (aOR: 3.69; 95% CI: 1.02-13.43; p = .04) had significantly increased risk for uncensored graft failure. There was no significant association between time to viral clearance and DCGF or composite outcomes. CONCLUSIONS: We found a trend of increased risk for uncensored graft failure among those who cleared BKPyV-DNAemia more slowly. Aiming to clear viremia early, without risking rejection, may be beneficial for allograft function and patient morbidity and mortality.

Finerenone and left ventricular hypertrophy in chronic kidney disease and type 2 diabetes.

AIMS: Left ventricular hypertrophy (LVH) has been associated with an increased risk of cardiovascular (CV) disease and linked to increased morbidity and mortality. In patients with chronic kidney disease (CKD) and type 2 diabetes (T2D), hypertension is common, and patients with these co-morbidities additionally have a high prevalence of LVH. This analysis of the prespecified pooled FIDELITY analysis comprising the randomized, double-blind, placebo-controlled, multicentre FIDELIO-DKD and FIGARO-DKD phase III studies aimed to explore the CV and kidney effects of finerenone, a nonsteroidal mineralocorticoid receptor antagonist, in patients with CKD and T2D stratified by a diagnosis of LVH at baseline. METHODS AND RESULTS: A diagnosis of LVH in the FIDELITY patient population was determined at baseline using investigator-reported electrocardiogram (ECG) findings. The two efficacy outcomes, assessed by baseline LVH, were the composite CV outcome of time to CV death, non-fatal myocardial infarction, non-fatal stroke, or hospitalization for heart failure (HHF), and a composite kidney outcome of time to onset of kidney failure, a sustained decrease in estimated glomerular filtration rate (eGFR) ≥57% from baseline over ≥4 weeks, or kidney-related death. Safety outcomes by baseline LVH were reported as treatment-emergent adverse events. At baseline out of 13 026 patients in FIDELITY, 96.5% had hypertension and 9.6% had investigator-reported LVH. The relative risk reduction for the composite CV and kidney outcomes with finerenone versus placebo was lower in the LVH subgroup; however, the treatment effect of finerenone was not modified by baseline LVH for either outcome (Pinteraction = 0.1075 for composite CV outcome and Pinteraction = 0.1782 for composite kidney outcome). Analysis of the composite CV outcome components showed a greater reduction in the risk of HHF versus placebo for patients with baseline LVH compared with those without (Pinteraction = 0.0024). Overall safety events were comparable between the LVH subgroups and treatment arms. Treatment-emergent hyperkalaemia was observed more frequently with finerenone versus placebo, but discontinuation rates were low in both treatment arms and between LVH subgroups. CONCLUSIONS: In conclusion, the overall CV and kidney benefits of finerenone versus placebo were not modified by the presence of LVH at baseline, with overall safety findings being similar between LVH subgroups. A greater benefit was observed for HHF in patients with versus without LVH, suggesting that LVH may be a predictor of the treatment effect of finerenone on HHF.

Conduction System Pacing Associated with Reduced Heart-Failure Hospitalizations and All-Cause Mortality Compared to Traditional Right Ventricular Pacing in the Medicare Population.

BACKGROUND: Conduction system pacing (CSP) has emerged as an alternative therapy to traditional right ventricular (RV) pacing. However, the majority of CSP studies reflect small cohorts or single-center experience. OBJECTIVE: This analysis compared CSP to dual-chamber (DC) RV pacing in a large, population-based cohort utilizing data from the Micra Coverage with Evidence Development (CED) study. METHODS: Medicare administrative claims data were used to identify patients implanted with a DC RV pacemaker. Lead placement data from Medtronic's device registration system identified patients treated with CSP (N=6,197) using a 3830 catheter-delivered lead or DC RV (non-3830 lead, non-CSP placement) (N=16,989) at the same centers. CSP patients were stratified into left bundle branch area pacing (LBBAP) (N=4,738) and His-bundle pacing (HBP) (N=1,459). Incident heart failure hospitalizations (iHFH), all-cause mortality, complication rates and reinterventions at 6 months were analyzed. RESULTS: CSP patients with a 3830 catheter-delivered lead experienced significantly lower rates of iHFH (HR: 0.70, P=0.02) and all-cause mortality at 6 months compared with DC RV patients (HR: 0.66, P<.0001). There was no difference in chronic complications (HR: 0.97, P=0.62) or need for reintervention (HR: 0.95, P=0.63) with CSP compared to DC RV, though LBBAP patients experienced significantly lower rates of complications (HR: 0.71, P=0.001) compared to HBP. CONCLUSION: Dual-chamber pacemaker patients treated with CSP using a 3830 catheter-delivered lead experienced significant all-cause mortality and HFH benefits compared to DC RV pacing. LBBAP had lower complications compared to HBP. These real-world results align with findings in small clinical studies demonstrating the benefits of CSP.

Navigating Choices in Nephrology: The Role of Patient-Reported Outcomes and Preferences in Economic Evaluations and Decisions in Health Care.

The increasing burden of chronic kidney disease (CKD) on the health care system highlights the need to prioritize services and manage the use of resources efficiently. Amid these financial constraints, key decision makers must weigh the impact of an intervention or program on health care expenditure when determining the allocation of limited resources. Patient-reported outcome measures (PROMs) are relevant in health economic decision-making within nephrology. Health-related quality of life, a patient-reported outcome, can provide data that inform economic evaluations of treatments for patients with CKD. PROMs help determine the value of different therapies by assessing their impact on patients' daily lives beyond clinical outcomes and can help policymakers make decisions about funding and reimbursement that consider the priorities and preferences of patients. Economic evaluations often employ cost-utility analyses, which use quality-adjusted life years as a key metric. Quality-adjusted life years combine both the quality and quantity of life lived, allowing for comparison of the effectiveness of different interventions in a standardized manner. By integrating utilities derived from PROMs, these analyses quantify the benefits of CKD treatments in terms of how patients feel and function. Furthermore, PROMs contribute to quality improvement initiatives by identifying areas where patient care can be enhanced, guiding the implementation of programs that improve health-related quality of life while maintaining cost-effectiveness. In value-based financing environments, the integration of PROMs ensures that patient-centered outcomes are prioritized, leading to more effective and equitable health care delivery. In this article, we discuss the role of PROMs in economic evaluations in CKD and provide an overview of approaches for using PROMs in economic evaluations to inform decision-making in nephrology.

Evaluation and Management of Biliary Dyskinesia in Children and Adolescents: A Systematic Review From the APSA Outcomes and Evidence-Based Committee.

INTRODUCTION: The diagnosis and management of biliary dyskinesia in children and adolescents remains variable and controversial. The American Pediatric Surgical Association Outcomes and Evidence-Based Practice Committee (APSA OEBP) performed a systematic review of the literature to develop evidence-based recommendations. METHODS: Through an iterative process, the membership of the APSA OEBP developed five a priori questions focused on diagnostic criteria, indications for cholecystectomy, short and long-term outcomes, predictors of success/benefit, and outcomes of medical management. A systematic review was conducted, and articles were selected for review following Preferred Reporting Items for Systematic Review and Meta-analyses (PRISMA) guidelines. Risk of bias was assessed using Methodologic Index for Non-Randomized Studies (MINORS) criteria. The Oxford Levels of Evidence and Grades of Recommendation were utilized. RESULTS: The diagnostic criteria for biliary dyskinesia in children and adolescents are not clearly defined. Cholecystectomy may provide long-term partial or complete relief in some patients; however, there are no reliable predictors of symptom relief. Some patients may experience resolution of symptoms with non-operative management. CONCLUSIONS: Pediatric biliary dyskinesia remains an ill-defined clinical entity. Pediatric-specific guidelines are necessary to better characterize the condition, guide work-up, and provide management recommendations. Prospective studies are necessary to more reliably identify patients who may benefit from cholecystectomy. LEVEL OF EVIDENCE: Level 3-4. TYPE OF STUDY: Systematic Review of Level 3-4 Studies.

Push or pull? Digital notification platform implementation reduces dysglycaemia.

Pushing selected information to clinicians, as opposed to the traditional method of clinicians pulling information from an electronic medical record, has the potential to improve care. A digital notification platform was designed by clinicians and implemented in a tertiary hospital to flag dysglycaemia. There were 112 patients included in the study, and the post-implementation group demonstrated lower rates of dysglycaemia (2.5% vs 1.1%, P = 0.038). These findings raise considerations for information delivery methods for multiple domains in contemporary healthcare.

Characteristics and Outcomes of Infants in Texas by Facility Children's Surgery Verification Status.

INTRODUCTION: The American College of Surgeons Children's Surgery Verification (CSV) status recognizes hospitals that deliver high-quality pediatric surgical care. Texas has 5 CSV centers in three cities, which may limit equitable access to care. We explored the characteristics and outcomes of infants admitted in Texas as a function of facility CSV status. MATERIALS AND METHODS: We retrospectively reviewed a state-wide hospital discharge database (2013-2021). All patients <1 y of age were included. Patients transferred to an outside hospital were excluded to avoid double counting. Descriptive statistics and chi-square analysis were performed. RESULTS: We analyzed 3,617,173 admissions, with 211,278 (6%) treated at CSV centers. CSV admissions were less likely to be inborn (46% versus 93%) and more likely to be transfers (16% versus 1%). CSV centers also had sicker patients (32% versus 13% extreme illness severity) with higher mortality rates (1% versus 0%), longer length of stay (9 ± 22 versus 4 ± 9), and higher operative rates (33% versus 20%). However, mortality was lower at CSV centers when matched for illness severity. Proportionately more patients from rural counties (9% versus 4%) and counties along the United States-Mexico border (13% versus 1%), as well as patients of Hispanic ethnicity (39% versus 33%), were treated at non-CSV centers. Meanwhile, proportionately more African Americans (21% versus 11%) were treated at CSV centers. CONCLUSIONS: CSV centers are associated with improved outcomes among patients with high illness severity. Population differences among patients treated at CSV centers compared to non-CSV centers may represent disparities in access to care and warrant further evaluation.

Obstetric and neonatal outcomes in pregnancies complicated by placental abruption with vs. without supporting sonographic findings- A retrospective cohort study.

INTRODUCTION: Placental abruption (PA) is a major obstetric complication associated with worse maternal and neonatal outcomes. Though ultrasound findings may support the diagnosis of PA, the association of such findings to the severity of PA and maternal and neonatal outcomes is not yet clear. We aimed to assess the maternal and neonatal outcomes of PA cases with vs. without related sonographic findings. METHODS: In this retrospective cohort study, all deliveries complicated by PA between 2009 and 2022 were included. Placental histopathology, obstetric, and neonatal outcomes were compared between cases of PA with vs. without supporting sonographic findings. A composite of severe neonatal morbidity was compared between the groups, including ≥1 of the following: seizures, intraventricular hemorrhage, hypoxic-ischemic encephalopathy, periventricular leukomalacia, respiratory-distress syndrome, sepsis, anemia, blood transfusion or death. RESULTS: Of the 420 cases with PA eligible for the study, 50 patients (12 %) were in the PA with sonographic features group and 370 (88 %) were in the PA without sonographic features group. The PA with sonographic features group was characterized by significantly higher rates of prematurity (p < 0.001), severe composite adverse neonatal outcome (p < 0.01), and a composite maternal vascular malperfusion lesions in placental histopathology (p = 0.001) In multivariable regression analyses, preterm birth was independently associated with the presence of sonographic features (aOR = 8.79, 95 % CI 2.41-31.93, p < 0.001). DISCUSSION: PA with supporting sonographic features is associated with higher rates of adverse obstetric and neonatal outcomes and placental lesions. These findings emphasize the importance of sonographic evaluation for every case of PA before deciding upon management.

Assessment of patient-reported outcomes in vitreomacular interface disorders: A systematic literature review.

Patient-reported outcome measures (PROMs) assess the impact of disease on quality of life from the patient's perspective. Our purpose was to provide an overview of current PROMs used for vitreomacular interface disorders: macular hole, epiretinal membrane, and vitreomacular traction. We review the content coverage of all identified PROMs, assess them against quality-of-life issues as identified from earlier qualitative studies, and assess their psychometric quality (measurement properties). We identified 86 studies that used a PROM and 2 qualitative studies on quality of life of patients with a vitreomacular interface disorder. Current PROMs used in vitreomacular interface disorders have a limited content coverage and unknown psychometric quality. The National Eye Institute Visual Functioning Questionnaire was used most. None of the condition-specific PROMs used patient consultation during content development, and there is only a small overlap between the content of PROMs and quality-of-life issues in qualitative studies. Reporting of psychometric quality was sparse, and mostly limited to concurrent validity and responsiveness. There is a need for properly developed and validated PROMs in vitreomacular interface disorders.

The influence of preoperative 12-item veterans rand physical component scores on outcomes following cervical disc replacement.

PURPOSE: To evaluate the influence of preoperative VR-12 physical component scores (PCS) on outcomes following cervical disc replacement (CDR). METHODS: Patients undergoing elective CDR were retrospectively identified. Patient-reported outcomes (PROs) of interest included VR-12 PCS/VR-12 Mental Component Score (MCS)/9-Item Patient Health Questionnaire (PHQ-9)/Short Form-12 (SF-12) PCS and MCS/Patient-Reported Outcome Measurement Information System-Physical Function (PROMIS-PF)/Visual Analog Scale-Neck Pain (VAS-NP)/VAS-Arm Pain (VAS-AP)/Neck Disability Index (NDI). Baseline up to two-year postoperative scores were obtained (average follow-up: 9.2 ± 6.8months). Two cohorts were created: VR-12 PCS < 35 or VR-12 PCS ≥ 35. Improvements in scores from baseline to six weeks postoperatively and to final follow-up were calculated. Changes in scores were compared to previously reported thresholds to determine rates of minimum clinically important difference (MCID). RESULTS: Of 127 patients, 64 were in the worse VR-12 PCS group. Patients with better VR-12 PCS were more likely to have private insurance (p = 0.034). When accounting for insurance differences, the worse VR-12 PCS group reported inferior NDI/VAS-NP/PHQ-9/PROMIS-PF/VR-12 PCS/SF-12 PCS at six weeks and final follow-up (p ≤ 0.015, all). The worse VR-12 PCS group reported greater improvements in VAS-AP and VR-12 PCS by six weeks and in NDI/VR-12 MCS/VR-12 PCS/SF-12 PCS by final follow-up (p ≤ 0.026, all). Patients with worse VR-12 PCS reported greater MCID achievement for VR-12 MCS and SF-12 PCS (p ≤ 0.034, both). CONCLUSION: Following surgery, patients with worse VR-12 PCS report greater improvements in PROs, highlighting the increased relative impact of surgery for patients with worse baseline physical function. These findings can be used to optimize patient experience perioperatively and inform postoperative expectations.

A biopsychosocial questionnaire for patients with primer Sjögren's syndrome: The BETY-Biopsychosocial Questionnaire.

OBJECTIVE: The BETY-Biopsychosocial Questionnaire (BETY-BQ) is a scale developed to assess the biopsychosocial domains of patients with rheumatic diseases under a single roof. The study aimed to determine the validity and reliability of the BETY-BQ in patients with primary Sjögren's Syndrome (pSS). METHODS: At enrollment and one week, 91 patients with pSS completed the BETY-BQ. Construct validity was measured by correlating the BETY-BQ total score responses with the Health Assessment Questionnaire (HAQ), Hospital Anxiety and Depression Scale (HADS), 36-Item Short-Form Health Survey (SF-36), EULAR Sjögren's Syndrome Patient Reported Index (ESSPRI), EULAR Sjögren's Syndrome Disease Activity Index (ESSDAI), Primary Sjögren's Syndrome Quality of Life questionnaire (PSS-QoL), and Euro-QoL 5D (EQ-5D). RESULTS: The BETY-BQ correlated high to moderate with HAQ, bodily pain subscale of SF-36, Euro Qol-5D, PSS-QoL, HADS, and ESSPRI (0.776 to 0.557, p <0.05). Spearman's correlation coefficients between BETY-BQ total scores at baseline and average one week were very high (rho = 0.98, <0.001) and indicated substantial agreement between test-retest scores (ICC = 0.99, <0.001). Internal consistency reliability at baseline was 0.91 for the BETY-BQ. CONCLUSIONS: BETY-BQ is valid and reliable for assessing biopsychosocial status in patients with pSS and can be used to measure outcomes in pSS.

Epilepsy surgery below the age of 5 years: Are we still in time to preserve developmental and intellectual functions?

OBJECTIVE: The aim of this study is to describe the pre- and post-operative developmental and intellectual functions in a cohort of patients who underwent surgery for drug-resistant epilepsy (DRE) before the age of 5 years. METHOD: We retrospectively reviewed the medical records and neurodevelopmental assessments of a cohort of 80 surgically treated pediatric patients with DRE. We included patients if they had at least one pre- and one post-surgical neuropsychological assessments; 27 met the inclusion criteria. We evaluated Developmental Quotient (DQ) and Intelligence Quotient (IQ) before and after surgery. We identified two groups based on psychological evaluation outcome: Group 1, with stable or improved developmental and intellectual functions, and Group 2, experiencing developmental and intellectual loss. RESULTS: The mean age at seizure onset was 1.2 ± 1.0 years, and the mean age at surgery was 2.9 ± 1.2 years. At the last follow-up (mean 4 years, SD ± 2), 19/27 (70%) patients were seizure- and drug-free; 18/27 patients (67%) fit in Group 1, and 9/27 (33%) fit in Group 2. The mean age at surgery was 2.6 years (SD ± 1.1; range 1.2-5.1) in Group 1 and 3.4 years in Group 2 (SD ± 1.1; range 1.6-5.0). Group 1 had a lower pre-operative DQ/IQ total score than Group 2 (median DQ/IQ respectively 82 vs 108, p = 0.05). Between pre- and post-assessments, we found that in Group 1, Performance scores improved (82.7 vs 102, p = 0.001), while in Group 2, the Total and Verbal scores worsened (respectively 108 vs 75, p = 0.008, and 100 vs 76, p = 0.021). SIGNIFICANCE: Our study's results emphasize the positive impact of surgery before the age of 5 years on developmental and intellectual outcomes. Despite limitations such as a small sample size, lack of a control group, and diverse etiologies, our findings support the crucial role of early intervention in preserving or enhancing developmental and intellectual functions in young patients with DRE. PLAIN LANGUAGE SUMMARY: This retrospective study, conducted at the Bambino Gesù Children Hospital in Italy, reports neuropsychological and developmental and/or cognitive data for children undergoing early epilepsy surgery (before the age of 5). It found that children with lower developmental or cognitive profiles gained the highest scores on post-operative neuropsychological evaluations. This study provides information on the potential benefits of early surgery in shortening the duration of epilepsy, preventing or arresting deterioration, and enhancing plasticity and recovery.

Contemporary short-term peri-operative outcomes of open primary retroperitoneal lymph node dissection.

OBJECTIVES: To provide current peri-operative outcomes and short-term complication rates for open primary retroperitoneal lymph node dissection (RPLND), with analysis of risk factors for complications. PATIENTS AND METHODS: Using the Indiana University Testicular Cancer database, we performed a retrospective analysis of all patients who underwent open primary RPLND over the study period (2018-2021). The primary outcomes of interest were the preoperative profile of patients undergoing surgery, complication rates, and identification of risk factors associated with complications. We used chi-squared, Fisher's exact and unpaired t-tests in our analyses. RESULTS: A total of 165 patients were identified. The median body mass index (BMI) was 28.6 kg/m2. Patients most often had clinical stage IIA (39%) or IIB testicular cancer (36%). The median estimated blood loss was 150 mL, with no transfusions required. Higher BMI was noted in patients that sustained any complication vs those with normal recovery (34.95 vs 28 kg/m2; P = 0.0042). The median length of hospital stay was 3 days. The overall complication rate was low (8.48%), with two major postoperative complications, including one case of chylous ascites (0.6%), and no deaths in the 30-day period. The study was limited by its retrospective design and short-term follow-up. CONCLUSIONS: We found that open primary RPLND has an acceptable morbidity profile, even among a predominantly overweight cohort. Low blood loss, short hospital stay, minimal chylous ascites risk, and rare major postoperative complications should be the benchmark for retroperitoneal lymph node dissection.