Heart failure in children and adolescents: an update on diagnostic approaches and management.

Cardiac failure is a clinical syndrome that may develop in children owing to cardiac dysfunction or underlying structural heart diseases. Considering the differences in diagnostic and therapeutic approaches for pediatric heart failure (PHF) and adult heart failure, we have reviewed the current literature on PHF. Relevant studies were extracted from MEDLINE/PubMed, Google Scholar, and Clinical Trial Registries using the terms "pediatric heart failure" or "heart failure in children" and "management" or "decongestive therapy." Recent advances in diagnostic approaches, such as cardiac magnetic resonance, speckle-tracking echocardiography, tissue Doppler imaging, and molecular diagnostic techniques, have increased our under -standing of PHF. It is imperative that clinicians evaluate the interrelated factors responsible for the develop ment of PHF, including myocardial function, pulmonary and systemic blood flow, heart rhythm, valve function, and nutritional status. Although recent advances have demon strated the efficacy of many new drugs in adult heart failure trials, it cannot be concluded that these drugs will show similar efficacy in children, considering the heterogeneous nature of the underlying mechanisms and variable pharmacody-namics and pharmacokinetics. Therefore, the underlying pathophysiology of PHF and the mechanisms of action of different drugs should be considered when selecting appropriate therapies. Further trials are needed to establi sh the efficacy and safety of these drugs, and a combined mul-ti disciplinary strategy will help enhance PHF outcomes.

The Efficacy of Different Triptans for the Treatment of Acute Headache in Pediatric Migraine: A Systematic Review.

BACKGROUND: Serotonin receptors 5-HT1B and 5-HT1D in the cerebral arteries are activated by the 5-hydroxytryptophan agonists (triptans) to relieve the discomfort associated with migraines. Even though triptans are often used to treat acute migraines, there is some debate over their effectiveness. OBJECTIVE: Our systematic review aimed to evaluate the effectiveness of triptans for acute treatment of migraine in young individuals. METHODS: Utilizing the databases of Google Scholar, Cochrane Library, and PubMed, a literature search was conducted, and all papers published till July 2022 were included. This systematic review was carried out following the Preferred Reporting Items for Systematic Reviews and Meta-Analyses (PRISMA) standards. In addition to the Boolean operators AND, OR, and NOT, the following descriptive terms were also used: "Triptans," "Pediatric Migraine," "Migraine disorders," "Headache," "Children," and "Adolescent." RESULTS: A total of 1047 studies were identified, and 25 articles were finally included in the study. 17 of them were RCTs while the remaining were non-randomized trials. Most studies recruited participants aged between 12-17 years. Among 25 studies, 7 reported sumatriptan use, 3 assessed a combination of sumatriptan and naproxen, 4 were on almotriptan, 1 on eletriptan, 6 on rizatriptan, and 4 on zolmitriptan use. CONCLUSION: We found that rizatriptan (good tolerability profile with a dose of 5 mg) and sumatriptan (nasal spray, 10 mg and 20 mg) had higher efficiency as compared to other triptans. Regardless of type or dose, all triptans are generally well tolerated by patients, but a few adverse effects such as light-headedness (sumatriptan), nasopharyngitis, and, muscular spasms (sumatriptan/ naproxen), somnolence, and dry mouth (rizatriptan), and dizziness (zolmitriptan group) were reported with the triptans.

MIRAGE Syndrome Enteropathy Responding to Pancrelipase Despite Normal Pancreatic Fecal Elastase: A Case Report.

BACKGROUND Major findings of myelodysplasia, infection, restriction of growth, adrenal hypoplasia, genital phenotypes, and enteropathy (MIRAGE) syndrome is a rare genetic condition caused by a gain-of-function mutation in the SAMD9 gene. It acts as a growth repressor expressed in the endothelial cells. Pathogenic variants in the SAMD9 gene lead to profound growth-restricting activity intrinsic to the protein, which further reduces cellular proliferation and instigates this growth-limiting condition. Gastrointestinal features include chronic diarrhea, severe diaper rash, and colonic dilatation. Until now, there has been no description of exocrine pancreatic insufficiency as a possible cause of enteropathy in MIRAGE syndrome. CASE REPORT We report a case of MIRAGE syndrome affecting multiple systems in an infant who had severe enteropathy which responded well to porcine-derived pancreatic enzyme supplements despite normal pancreatic fecal elastase level. The infant is being followed up by multidisciplinary teams in our outpatient department. CONCLUSIONS Porcine-derived pancreatic enzyme is beneficial in enteropathy due to MIRAGE syndrome and is worth considering.

Pulse oximetry as a screening test for congenital heart disease in newborns.

BACKGROUND: Congenital heart disease (CHD) can be fatal if not diagnosed at the early phases of life. Available diagnostic tools for screening critical CHD are mostly invasive and costly. AIM: The current study aimed to validate the use of pulse oximetry as a non-invasive and cost-effective tool to screen critical CHD. MATERIAL AND METHODS: This observational study was conducted in a tertiary care teaching institute. A total of 1,082 asymptomatic term neonates (aged 2-24 h) were screened by pulse oximetry and clinical examination for the detection of critical CHD. Neonates with abnormal pulse oximetry and clinical examination findings were subjected to confirm the presence of CHD. RESULTS: The incidence of critical CHD in asymptomatic newborns was found to be 0.5% (5/1000 live births). Echocardiography confirmed five cases of critical CHD. Pulse oximetry alone could detect 80%, and clinical examination alone could detect 60% of the CHD cases, while combining both methods gave 100% detection rate. CONCLUSION: Pulse oximetry is a simple, cost-effective, and reliable tool to diagnose critical CHD. In majority of the newborns who have not undergone fetal echocardiography, the underlying critical CHD can be missed, and in such cases, pulse oximetry screening offers an effective way to minimise the undiagnosed discharge risk.

Rapid whole genome sequencing of critically ill pediatric patients from genetically underrepresented populations.

We describe a case series of five infants (age range: 1-90 days; 4 females and 1 male) who presented to Al Jalila Children's intensive care units (ICU) with complex multisystem disorders. Patients were Emirati, Kenyan, Jordanian, Filipino, or Pakistani. Trio rapid whole genome sequencing (rWGS) was performed on all five patients and their parents within the hospital's genomics facility. Results were returned within ~37 h from blood sample draws and were diagnostic in 3 out of 5 patients. Positive findings were a homozygous pathogenic variant in POMT1 gene causing muscular dystrophydystroglycanopathy, a mosaic tetrasomy of the short arm of chromosome 12 (12p13.33p11.1) causing Pallister-Killian syndrome, and compound heterozygous pathogenic variants in the LIPA gene causing lysosomal acid lipase deficiency and Wolman disease. The rWGS analysis provided fast and precise diagnostic findings in those 3 patients and also aided in devising better management plans for them in the intensive care setting. For example, the 3-month-old infant with pathogenic variants in the LIPA gene is now a candidate for an FDA-approved, potentially lifesaving enzyme replacement therapy (sebelipase alfa). Our case series emphasize the feasibility and utility of rWGS in pediatric intensive care setting, in a diverse population that has long been underserved in genomic services. Significant investments in local healthcare infrastructure are needed, globally, for more equitable access of genomic medicine among vulnerable patients.

Sweet's Syndrome: An Update.

Sweet's syndrome is a serious dermatological disorder characterized by a rapid onset of tender plaques or nodules, fever, joint pain, headache, and oral and genital lesions. According to the clinical features and underlying causes, Sweet's syndrome is divided into three categories, i.e., classical (or idiopathic), malignancy-associated Sweet's syndrome, and drug-induced Sweet's syndrome. It is multifactorial in etiology, and the exact cause is still undetermined. The diagnosis can be confirmed by the routine histopathologic evaluation of skin biopsy from the lesions. The first-line treatment options are topical and systemic steroids. Multiple databases, like Medline/PubMed, Scopus, and Google, were used to identify resources for this literature review. The relevant information was collected from various case reports, case series, reviews, meta-analyses, and large clinical trials reporting clinical description, etiology, diagnosis, and management of Sweet's syndrome. This narrative review aimed to discuss recent understandings related to Sweet's syndrome, both in terms of clinical presentation and management approach.