Resolution of cor pulmonale after medical management in a patient with cblC-type methylmalonic aciduria and homocystinuria: a case report

We describe a 3-year-old Hispanic male with cblC-type methylmalonic aciduria and homocystinuria who presented to the emergency department with progressive tachypnea, vomiting, and edema secondary to pulmonary embolism and cor pulmonale. With aggressive medical management, there was complete resolution of right heart failure and pulmonary hypertension after 3 months. Pulmonary embolism is rare in the pediatric population. Children with cblC-type methylmalonic aciduria and homocystinuria may be at increased risk for thrombus formation and pulmonary embolism due to chronic hyperhomocystinemia, a risk factor for thrombus formation in the adult population. Aspirin therapy may be indicated in children with inborn errors of metabolism that predispose to hyperhomocystinemia

Phelan-McDermid syndrome: a review of the literature and practice parameters for medical assessment and monitoring

The purpose of this study is to contribute to a deeper understanding about how placement discontinuities of children in foster care affect their learning. The aim is to find out more about their learning and what role school plays in their life. A life-world perspective is used and theories mainly developed by Alfred Schütz (2002) build the theoretical framework. The empirical research is mainly based on narratives of a pair of twins at 19 years of age, who agreed to share their life stories and experiences of their time in school. Meetings were arranged separately with Alex, the boy, and Helena, the girl, both eager to participate. They felt that their stories could contribute to knowledge. The stories show that placement discontinuities in their early childhood made memories and their perspective of time blurry. They both suffered severe neglect in two of their foster care placements. School offered them a safe place throughout their adolescent years. However, despite this, they are critical to the teachers who saw that they suffered neglect at home but never acted upon that knowledge. Hence their first-hand experiences suggest that teachers, considered important in earlier research studies, are not as important as friend made or the daily routines that provide certain security in an otherwise uncertain life. The social services didn’t listen or support them. Alex and Helena felt that they had to take care of themselves. Their stories show that both of them are goal-oriented and that they highly value a good education. This is evident since they have always taken responsibility to complete set homework and to make school a functional place where they have also learned to know themselves. Furthermore, it is obvious that the twins have played a tremendous role for each other when their life-world time after time has changed. Alex and Helena’s stories and experiences can give the social services a deeper understanding of what lies behind the statistics. A teacher, who listens, shows support and has ambitious expectations regarding the children’s academic performance, has been confirmed in previous research to be of significant importance. In addition, the study shows that teachers should learn more about children in foster care. A life-world perspective and life-world theories can contribute to an alternative point of view regarding learning in life-world discontinuities. Learning can be reflected on by using Schütz theory about “strangers” as a way of understanding learning in a wider range, especially when there are discontinues in the life-world. The reflections made in this study point out the possibility that schools, as organizations, seem to have independent cultures that can be transferred between one another. In fact there seems to be certain variables that are the same for schools in general and hence it is of significant value to recognize school as a regional life-world. The expectations of how you act as a student and among friends are important for the sense of belonging. It is possible that Alex and Helena succeeded in school partly because some of the things they learned about the first school could be transferred to their new school. The study contributes with two new concepts; “livsvärldsbrott”- life-world-disruption and “livsvärldsbevarande”- life-world-preservation

Clinically Suspected Myocarditis Temporally Related to COVID-19 Vaccination in Adolescents and Young Adults: Suspected Myocarditis After COVID-19 Vaccination

Background: Understanding the clinical course and short-term outcomes of suspected myocarditis after the coronavirus disease 2019 (COVID-19) vaccination has important public health implications in the decision to vaccinate youth. Methods: We retrospectively collected data on patients <21 years old presenting before July 4, 2021, with suspected myocarditis within 30 days of COVID-19 vaccination. Lake Louise criteria were used for cardiac MRI findings. Myocarditis cases were classified as confirmed or probable on the basis of the Centers for Disease Control and Prevention definitions. Results: We report on 139 adolescents and young adults with 140 episodes of suspected myocarditis (49 confirmed, 91 probable) at 26 centers. Most patients were male (n=126, 90.6%) and White (n=92, 66.2%); 29 (20.9%) were Hispanic; and the median age was 15.8 years (range, 12.1–20.3; interquartile range [IQR], 14.5–17.0). Suspected myocarditis occurred in 136 patients (97.8%) after the mRNA vaccine, with 131 (94.2%) after the Pfizer-BioNTech vaccine; 128 (91.4%) occurred after the second dose. Symptoms started at a median of 2 days (range, 0–22; IQR, 1–3) after vaccination. The most common symptom was chest pain (99.3%). Patients were treated with nonsteroidal anti-inflammatory drugs (81.3%), intravenous immunoglobulin (21.6%), glucocorticoids (21.6%), colchicine (7.9%), or no anti-inflammatory therapies (8.6%). Twenty-six patients (18.7%) were in the intensive care unit, 2 were treated with inotropic/vasoactive support, and none required extracorporeal membrane oxygenation or died. Median hospital stay was 2 days (range, 0–10; IQR, 2–3). All patients had elevated troponin I (n=111, 8.12 ng/mL; IQR, 3.50–15.90) or T (n=28, 0.61 ng/mL; IQR, 0.25–1.30); 69.8% had abnormal ECGs and arrhythmias (7 with nonsustained ventricular tachycardia); and 18.7% had left ventricular ejection fraction <55% on echocardiogram. Of 97 patients who underwent cardiac MRI at a median 5 days (range, 0–88; IQR, 3–17) from symptom onset, 75 (77.3%) had abnormal findings: 74 (76.3%) had late gadolinium enhancement, 54 (55.7%) had myocardial edema, and 49 (50.5%) met Lake Louise criteria. Among 26 patients with left ventricular ejection fraction <55% on echocardiogram, all with follow-up had normalized function (n=25). Conclusions: Most cases of suspected COVID-19 vaccine myocarditis occurring in persons <21 years have a mild clinical course with rapid resolution of symptoms. Abnormal findings on cardiac MRI were frequent. Future studies should evaluate risk factors, mechanisms, and long-term outcomes

Ventricular septal defect Doppler peak gradient underestimates right ventricular systolic pressure in the presence of right bundle branch block

Estimation of the right ventricular systolic pressure (RVSP) using echocardiographically derived maximal instantaneous gradient across the ventricular septal defect is a well-utilized tool, which can potentially underestimate the RVSP in patients with conduction abnormalities as such its utility in these patients is questionable

Prevalence of congenital anomalies in newborns with congenital heart disease diagnosis

Background: There is a known association between congenital heart disease (CHD) and other congenital anomalies (CA). These associations have been altered by changes in prenatal factors in recent time. We reviewed the largest database of inpatient hospitalization information and analyzed the current association between common CHD diagnoses and other congenital anomalies. Materials and Methods: Case-control study design. We reviewed the Nationwide Inpatient Sample (NIS) database from 1998 to 2008 and identified all live births with CHD diagnosis (case) and live births without CHD diagnosis (control). We compared prevalence of associated congenital anomalies between the case and control groups. Results: Our cohort consisted of 97,154 and 12,078,482 subjects in the case and control groups, respectively. In the CHD population, prevalence of non-syndromic congenital anomaly (NSCA), genetic syndrome (GS), and overall extra-cardiac congenital anomaly (CA) were 11.4, 2.2, and 13.6%, respectively. In the control group, prevalence of NSCA, GS, and CA were 6.7, 0.3, and 7.0%, respectively. NSCA (odds ratio (OR): 1.88, confidence interval (CI): 1.73-1.94), GS (OR 2.52, CI 2.44-2.61), and overall CA (OR: 2.01, CI: 1.97-2.14) were strongly associated with CHD. Prevalence of GS and multiple organ-system CA decreased significantly over the study period. Conclusions: This is the largest and most comprehensive population-based study evaluating association between CHD and extra-cardiac malformation (ECM) in newborns. There was significant decrease in prevalence of GS and multiple CA over the study period