Endocardial Fibroelastosis as an Independent Predictor of Atrioventricular Valve Rupture in Maternal Autoimmune Antibody Exposed Fetus: A Systematic Review with Clinicopathologic Analysis.

BACKGROUND: Neonatal lupus (NL) is a clinical syndrome that develops in the fetus as a result of maternal autoimmune antibodies. Congenital complete heart block (CHB) is the most common manifestation, while extranodal cardiac manifestations of NL, such as endocardial fibroelastosis (EFE) and myocarditis, are rare but more serious. Less is known about this atrioventricular valve rupture due to valvulitis as a consequence of maternal autoantibodies. We have described a case of cardiac neonatal lupus with an antenatally detected CHB patient who developed mitral and tricuspid valve chordal rupture at 45 days of age. We compared the cardiac histopathology and the fetal cardiac echocardiographic findings of this case with another fetus that was aborted after being antenatally diagnosed with CHB but without valvar rupture. A narrative analysis after a systematic review of the literature regarding atrioventricular valve apparatus rupture due to autoimmune etiology along with maternal characteristics, presentation, treatment, and outcome have been discussed in this article. OBJECTIVES: To describe published data on atrioventricular valve rupture in neonatal lupus, including clinical presentation, diagnostic evaluation, management, and outcomes. METHODS: We conducted a PRISMA-compliant descriptive systematic examination of case reports that included accounts of lupus during pregnancy or in the newborn period that resulted in an atrioventricular valve rupture. We gathered information on the patient's demographics, the details of the valve rupture and other comorbidities, the maternal therapy, the clinical course, and the results. We also used a standardized method to evaluate the cases' quality. A total of 12 cases were investigated, with 11 cases drawn from 10 case reports or case series and 1 from our own experience. RESULTS: Tricuspid valve rupture (50%) is more common than mitral valve rupture (17%). Unlike mitral valve rupture, which occurs postnatally, the timing of tricuspid valve rupture is perinatal. A total of 33% of the patients had concomitant complete heart block, while 75% of the patients had endocardial fibroelastosis on an antenatal ultrasound. Antenatal changes pertaining to endocardial fibroelastosis can be seen as early as 19 weeks of gestation. Patients with both valve ruptures generally have a poor prognosis, especially if they occur at close intervals. CONCLUSION: Atrioventricular valve rupture in neonatal lupus is rare. A majority of patients with valve rupture had antenatally detected endocardial fibroelastosis in the valvar apparatus. Appropriate and expedited surgical repair of ruptured atrioventricular valves is feasible and has a low mortality risk. Rupture of both atrioventricular valves occurring at close intervals carries a high mortality risk.

Do renal and cardiac malformations in the fetus signal carnitine palmitoyltransferase II deficiency? A rare lethal fatty acid oxidation defect.

The neonatal form of carnitine palmitoyltransferase II (CPT II) deficiency is a rare lethal inherited disorder of fatty acid oxidation. Carnitine essentially transfers long-chain fatty acids across the mitochondrial membranes for ß-oxidation, where CPT II plays a key role. CPT II deficiency phenotypical forms include lethal neonatal, severe infantile and myopathic forms. We present a term small-for-gestational-age neonate with hypoglycaemia, seizures, refractory cardiac arrhythmias and intracranial haemorrhage. Plasma acylcarnitine profile and the genetic study confirmed CPT II deficiency. Additionally, likely pathogenic variants in the SLC22A5 gene point to primary carnitine deficiency. Antenatal findings of polycystic kidney disease and cardiomegaly were confirmed postnatally. All supportive measures, including extracorporeal life support, failed to improve the clinical course, and the baby succumbed. Major renal, cerebral and cardiac anomalies were reported with CPT II deficiency. In our case, fetal polycystic nephromegaly and cardiomegaly with parental consanguinity should have signalled the possibility of this disorder.

Evaluation of a one-hour asynchronous video training for eating disorder screening and referral in U.S. Pediatric Primary Care: A pilot study.

OBJECTIVE: Develop and pilot-test the efficacy of an online training in improving comfort, knowledge, and behaviors related to eating disorders (EDs) screening among U.S.-based pediatric primary care providers (PCPs). METHODS: PCPs (N = 84) completed a baseline survey assessing comfort, knowledge, and behaviors regarding ED screening and referral, then watched a 1-h training video followed by a post-video survey. Half of the participants were randomly assigned to complete spaced-education questions in the following 2 months. All participants completed a 2-month follow-up survey. We used McNemar's and McNemar-Bowker tests to assess differences from baseline to post-video and post-video to follow-up, and logistic models to assess differences by spaced-education condition. RESULTS: From baseline to post-video, there were significant improvements in PCPs' knowledge about and comfort in screening and making referrals for EDs (p < .05). There were no differences between spaced-education conditions in knowledge and behaviors from baseline or post-video to follow-up, but spaced-education participants reported significantly greater comfort in screening for BN (p < .01) and BED (p < .01) compared to non-spaced-education participants. DISCUSSION: Findings suggest that a 1-h asynchronous training can improve PCP comfort, knowledge, and behavior in screening for EDs; spaced-education may provide slight additional benefits in PCP comfort. PUBLIC SIGNIFICANCE: The delivery of an 1-h asynchronous online video training helped to improve PCPs' comfort, knowledge, and behavior in screening and referral for EDs among pediatric populations. This has implications for future evaluations of brief trainings among this provider population, which could ultimately help to improve early identification of EDs and referrals to appropriate treatment.

Neonatal Arterial Tortuosity and Adult Aortic Aneurysm-Is There a Missing Link?-A Case Report.

We report a novel case of a full term newborn with non-immune fetal hydrops and arterial tortuosity mimicking a double aortic arch, and cranial fractures in the immediate neonatal period. The infant had no classic features of neonatal arterial tortuosity syndrome or Loeys Dietz syndrome apart from bilateral inguinal hernia. He also had skeletal manifestations in the form of fractures in the neonatal period without any trauma during birth and without clinical evidence of Osteogenesis Imperfecta. A heterozygous missense variant of uncertain significance was detected in MYH11 gene which is increasingly recognized to be belonging to the familial/hereditary thoracic aneurysm and aortic dissection group of disorders. Fetal hydrops as an association with arterial tortuosity has not been reported in the literature. We hypothesize the possible mechanism behind developing fetal hydrops in this case and discuss the genetic and phenotypic heterogeneity of the Familial Thoracic Aortic Aneurysm and Dissection (FTAAD) group of conditions highlighting the unique phenotypic and genotypic presentations. We recommend a high index of suspicion and vigilance in the early detection of such potentially lethal conditions with sequelae also in adulthood.

Dropout, response, and abstinence outcomes of a national text-messaging smoking cessation intervention for teens, SmokeFreeTeen.

Although text-messaging interventions are effective for smoking cessation, few target teens in the USA and little is known about their effectiveness. The purpose of this manuscript is to examine correlates of dropout, response to smoking status prompts, and abstinence rates among subscribers of SmokeFreeTeen, a free, publicly available text-messaging smoking cessation intervention sponsored by the National Cancer Institute's SmokeFree.Gov initiative, on quit day through 1 month follow-up. In a sample of teens (N = 2,685), aged 13-19, we examined demographics, smoking frequency, cigarettes smoked per day, prequit intervention time (i.e., maximum of 14 days of prequit day preparation), and number of quit attempts as correlates of response and abstinence rates among program initiators (i.e., participants who reached quit day but dropped out on or before intervention end) and completers (i.e., participants who reached quit day and completed the intervention). We also conducted Cox regression analysis of time from quit day to dropout by daily and nondaily smoking status. Two-thirds (n = 1,733, 64.54%) dropped out before the intervention ended, with dropout rates peaking on quit day (n = 289, 13.10%). Response rate to smoking status prompts remained below 30% throughout the intervention. At intervention end and 1 month follow-up, abstinence was 2.63% and 2.55% among program initiators, whereas abstinence was 6.09% and 6.01% among program completers. Dropout, response, and abstinence rates did not consistently differ by subscriber characteristics. Prequit time was associated with decreased likelihood of dropping out (adjusted hazards ratio: 0.94, confidence interval [CI]: 0.93-0.95), responding to smoking status prompts (adjusted odds ratio [aOR]: 0.94, CI: 0.92-0.96), and being abstinent (aOR: 0.96, CI: 0.93-0.99) on quit day. Two or more quit attempts were associated with increased response (aOR: 1.61, CI: 1.16-2.23) and abstinence (aOR: 1.91, CI: 1.25-2.92) rates on Day 7. In a first assessment of SmokeFreeTeen outcomes, we document high dropouts and low response and abstinence rates. SmokeFreeTeen produced abstinence rates lower than comparable text-messaging interventions targeting teens and young adults. Improving SmokeFreeTeen's reach, engagement, and effectiveness is needed.