Trisomy 18: disparities of care and outcomes in the State of Texas between 2009 and 2019.

OBJECTIVE: To perform a statewide characteristics and outcomes analysis of the Trisomy 18 (T18) population and explore the potential impact of associated congenital heart disease (CHD) and congenital heart surgery. STUDY DESIGN: Retrospective review of the Texas Hospital Inpatient Discharge Public Use Data File between 2009 and 2019, analysing discharges of patients with T18 identified using ICD-9/10 codes. Discharges were linked to analyse patients. Demographic characteristics and available outcomes were evaluated. The population was divided into groups for comparison: patients with no documentation of CHD (T18NoCHD), patients with CHD without congenital heart surgery (T18CHD), and patients who underwent congenital heart surgery (T18CHS). RESULTS: One thousand one hundred fifty-six eligible patients were identified: 443 (38%) T18NoCHD, 669 (58%) T18CHD, and 44 (4%) T18CHS. T18CHS had a lower proportion of Hispanic patients (n = 9 (20.45%)) compared to T18CHD (n = 315 (47.09%)), and T18NoCHD (n = 219 (49.44%)) (p < 0.001 for both). Patients with Medicare/Medicaid insurance had a 0.42 odds ratio (95%CI: 0.20-0.86, p = 0.020) of undergoing congenital heart surgery compared to private insurance. T18CHS had a higher median total days in-hospital (47.5 [IQR: 12.25-113.25] vs. 9 [IQR: 3-24] and 2 [IQR: 1-5], p < 0.001); and a higher median number of admissions (n = 2 [IQR: 1-4]) vs. 1 [IQR: 1-2] and 1 [IQR: 1-1], (p < 0.001 for both). However, the post-operative median number of admissions for T18CHS was 0 [IQR: 0-2]. After the first month of life, T18CHS had freedom from in-hospital mortality similar to T18NoCHD and superior to T18CHD. CONCLUSIONS: Short-term outcomes for T18CHS patients are encouraging, suggesting a freedom from in-hospital mortality that resembles the T18NoCHD. The highlighted socio-economic differences between the groups warrant further investigation. Development of a prospective registry for T18 patients should be a priority for better understanding of longer-term outcomes.

Examining the Real-Life Journey of Individuals and Families Affected by Single-Ventricle Congenital Heart Disease.

Background The lifetime journey of patients with single-ventricle congenital heart disease is characterized by long-term challenges that are incompletely understood and still unfolding. Health care redesign requires a thorough understanding of this journey to create and implement solutions that improve outcomes. This study maps the lifetime journey of individuals with single-ventricle congenital heart disease and their families, identifies the most meaningful outcomes to them, and defines significant challenges in the journey. Methods and Results This qualitative research study involved experience group sessions and 1:1 interviews of patients, parents, siblings, partners, and stakeholders. Journey maps were created. The most meaningful outcomes to patients and parents and significant gaps in care were identified across the life journey. A total of 142 participants from 79 families and 28 stakeholders were included. Lifelong and life-stage specific journey maps were created. The most meaningful outcomes to patients and parents were identified and categorized using a "capability (doing the things in life you want to), comfort (experience of physical/emotional pain/distress), and calm (experiencing health care with the least impact on daily life)" framework. Gaps in care were identified and classified into areas of ineffective communication, lack of seamless transitions, lack of comprehensive support, structural deficiencies, and insufficient education. Conclusions There are significant gaps in care during the lifelong journey of individuals with single-ventricle congenital heart disease and their families. A thorough understanding of this journey is a critical first step in developing initiatives to redesign care around their needs and priorities. This approach can be used for people with other forms of congenital heart disease and other chronic conditions. Registration URL: https://www.clinicaltrials.gov; Unique identifier: NCT04613934.

Lyme carditis presenting as paroxysmal junctional tachycardia and complete atrioventricular block in an adolescent.

We describe a case of a previously healthy adolescent who presented with junctional tachycardia and complete atrioventricular (AV) block due to Lyme carditis. The simultaneous presence of these findings suggested significant inflammation of the AV junction. Junctional tachycardia, particularly if seen in a patient with conduction abnormalities and potential tick exposure, should increase suspicion for Lyme carditis.

Stepped Care Interpersonal Psychotherapy Treatment for Depressed Adolescents: A Pilot Study in Pediatric Clinics.

Adolescents with depression are at risk for negative long-term consequences and recurrence of depression. Many do not receive nor access treatment, especially Latino youth. New treatment approaches are needed. This study examined the feasibility and acceptability of a stepped collaborative care treatment model (SCIPT-A) for adolescents with depression utilizing interpersonal psychotherapy for adolescents (IPT-A) and antidepressant medication (if needed) compared to Enhanced Treatment as Usual (E-TAU) in urban pediatric primary care clinics serving primarily Latino youth. Results suggest the SCIPT-A model is feasible, acceptable and potentially beneficial for urban Latino adolescents. Clinicians delivered the SCIPT-A model with fidelity using supervision successfully implemented in a community setting.

Airway ciliary dysfunction: Association with adverse postoperative outcomes in nonheterotaxy congenital heart disease patients.

OBJECTIVE: Heterotaxy (HTX) congenital heart disease (CHD) patients with ciliary dysfunction (CD) have been shown to have increased postoperative respiratory morbidity. We hypothesized that non-HTX CHD infants with CD also will have increased postoperative morbidity, particularly respiratory complications. METHODS: Sixty-three infants with non-HTX CHD undergoing cardiac surgery were enrolled. Tests commonly used to assess for CD, nasal nitric oxide (nNO) measurements and nasal epithelial ciliary motion (CM) assessment, were obtained. Baseline characteristics and postoperative outcomes were collected and analyzed. RESULTS: Non-HTX CHD infants exhibited a high prevalence of abnormal CM (32%) and low nNO (39%). This finding was not correlated with demographics or surgical complexity. Infants with abnormal CM had increased odds of requiring noninvasive positive pressure ventilation (odds ratio [OR], 6.5; 95% confidence interval [CI], 1.5-29.4; P = .016) and respiratory medication use (OR, 4.4; 95% CI, 1.5-13.3; P = .01). In contrast, infants with low nNO showed evidence of abnormal pre- and postoperative systolic function (40% vs 4%; P = .004, and 34% vs 13%; P = .056, respectively) and had greater odds of acquiring infections (OR, 4.9; 95% CI, 1.4-17; P = .014). CONCLUSIONS: Non-HTX CHD infants with abnormal CM showed increased postoperative morbidity associated with poor respiratory outcomes. In contrast, low nNO correlated with reduced hemodynamic function. These findings suggest screening for abnormal CM may allow perioperative interventions to reduce pulmonary morbidities. Whether low nNO may prognosticate poor hemodynamic function warrants further investigation.

Genetic link between renal birth defects and congenital heart disease.

Structural birth defects in the kidney and urinary tract are observed in 0.5% of live births and are a major cause of end-stage renal disease, but their genetic aetiology is not well understood. Here we analyse 135 lines of mice identified in large-scale mouse mutagenesis screen and show that 29% of mutations causing congenital heart disease (CHD) also cause renal anomalies. The renal anomalies included duplex and multiplex kidneys, renal agenesis, hydronephrosis and cystic kidney disease. To assess the clinical relevance of these findings, we examined patients with CHD and observed a 30% co-occurrence of renal anomalies of a similar spectrum. Together, these findings demonstrate a common shared genetic aetiology for CHD and renal anomalies, indicating that CHD patients are at increased risk for complications from renal anomalies. This collection of mutant mouse models provides a resource for further studies to elucidate the developmental link between renal anomalies and CHD.

Relative energy index of microembolic signal can predict malignant microemboli.

BACKGROUND AND PURPOSE: Microembolic signals (MES) found on transcranial Doppler range from harmless air bubbles to large, solid, particulate emboli from the heart and large vessels. The presence of MES is not always associated with poor clinical outcome. The purpose of our study was to determine whether the relative energy index of MES measured by power M-mode Doppler can distinguish malignant from benign MES and to identify patients with worse prognosis. METHODS: We prospectively collected transcranial Doppler emboli monitoring data from patients with symptomatic carotid stenosis presenting with TIA or ischemic stroke. For each patient, we calculated the relative energy index of MES and categorized those >1.0 as malignant MES. We compared the clinical characteristics, number, and volume of diffusion-weighted imaging lesions, and degree of stenosis and plaque characteristics on CT angiogram of patients with malignant and benign MES. RESULTS: We enrolled 92 patients, 29 with TIA and 63 with stroke, within 48 hours of symptom onset. Twenty-six patients had a total of 319 MES; of these, 82.4% were benign and were 17.6% malignant. Malignant MES traveled further within intracranial vessels than benign MES. The 9 patients with >1 malignant MES had significantly larger baseline diffusion-weighted imaging lesion volume, had a higher prevalence of intraluminal thrombus on CT angiogram of the neck and plaque ulceration, and were more likely to have a poor clinical outcome (modified Rankin Score > or = 2) than those with benign MES (OR, 6.5; 95% CI, 1.47-28.68). The presence of malignant MES led to the institution of more aggressive secondary prevention measures. CONCLUSIONS: Power M-mode transcranial Doppler identifies a subgroup of patients with malignant MES. These signals are more frequent in longer arterial trajectory. Patients with malignant MES have larger baseline infarcts, a higher prevalence of intraluminal thrombus or ulcerated plaque in the carotid artery, and worse clinical outcome.

A combined power m-mode and single gate transcranial doppler ultrasound microemboli signal criteria for improving emboli detection and reliability.

BACKGROUND AND PURPOSE: Single gate transcranial Doppler spectrogram (sgTCD) has a high variability in the detection of microembolic signals (MES), Adding Power M-mode Doppler (PMD) information may improve MES detection. Our study's aim is to derive combined PMD/sgTCD microemboli criteria to overcome this limitation. METHODS: Patients with symptomatic carotid disease were prospectively enrolled within 24 h of symptom onset underwent 1 hour TCD emboli monitoring. We reviewed disparity between PMD MES criteria and sgTCD MES criteria. We compared combined PMD/sgTCD criteria to sgTCD alone criteria by measuring the intraclass correlation coefficient (ICC). RESULTS: Of 92 patients, 28 patients had evidence of MES on sgTCD or PMD. Total MES count was 269 based on sgTCD criteria, and 326 based on combined PMD/sgTCD criteria (P= 0.005). Combined PMD/sgTCD criteria revealed 17 MESs (4.8%) based on sgTCD criteria to represent artifacts and 57 MESs (17.5%) not to be detected by sgTCD criteria. Overall ICC based on sgTCD criteria was 0.67 [95% confidence interval (CI): 0.58-0.74]; however, introducing combined PMD/sgTCD criteria resulted in a significant increase in the ICC, 0.91 (95% CI: 0.88-0.93). CONCLUSION: Our combined PMD/sgTCD criteria for MES appeared to improve the yield of MES detection. Reliability in MES detection interpretation was improved when combined PMD/sgTCD criteria was applied.

Reliability of point-of-care testing of INR in acute stroke.

BACKGROUND: In the emergency department, portable point-of-care testing (POCT) coagulation devices may facilitate stroke patient care by providing rapid International Normalized Ratio (INR) measurement. The objective of this study was to evaluate the reliability, validity, and impact on clinical decision-making of a POCT device for INR testing in the setting of acute ischemic stroke (AIS). METHODS: A total of 150 patients (50 healthy volunteers, 51 anticoagulated patients, 49 AIS patients) were assessed in a tertiary care facility. The INR's were measured using the Roche Coaguchek S and the standard laboratory technique. RESULTS: The interclass correlation coefficient and 95% confidence interval between overall POCT device and standard laboratory value INRs was high (0.932 (0.69 - 0.78). In the AIS group alone, the correlation coefficient and 95% CI was also high 0.937 (0.59 - 0.74) and diagnostic accuracy of the POCT device was 94%. CONCLUSIONS: When used by a trained health professional in the emergency department to assess INR in acute ischemic stroke patients, the CoaguChek S is reliable and provides rapid results. However, as concordance with laboratory INR values decreases with higher INR values, it is recommended that with CoaguChek S INRs in the > 1.5 range, a standard laboratory measurement be used to confirm the results.