Myocardial mRNA expression of interleukin-6 and hypoxia inducible factor-1α in neonates with congenital cardiac defects.

Background: In neonates with congenital heart disease (CHD), myocardial remodelling involves activation of inflammatory pathways. The role of hypoxemia related pathways is however unknown. This study was therefore designed to investigate myocardial mRNA expression of interleukin (IL)-6 and hypoxia-inducible factor (HIF)-1α in neonates with CHD and analyse its influence on post-operative outcome.

Evidence for secondary ciliary dyskinesia in patients with cystic fibrosis.

Background: Mucociliary clearance (MCC) impairment can be due to mucus abnormalities or to a ciliary dysfunction, which can be innate, or secondary to infection and/or inflammation. In cystic fibrosis (CF), it is well documented that MCC is impaired due to mucus abnormalities, but little is known concerning ciliary beating. This study aimed to confirm that ciliary dyskinesia is present in CF, and if this might be innate or secondary to the chronic infection and/or inflammation.

[Incidental discovery of a patent ductus arteriosus in adults].

The patent ductus arteriosus is a vascular structure that connects the proximal descending aorta to the main pulmonary artery near the origin of the left pulmonary artery. The persistence of ductal patency after the first weeks of life is abnormal. In adults, it is most often an isolated finding but it may be associated with other congenital anomalies.

[Risks of magistral preparations in pediatrics].

Vasoreactive pulmonary arterial hypertension (PAH) in children is a form of idiopathic PAH that responds to vasoreactive testing with nitric oxide (NO) by a significant decrease of pulmonary vascular resistances and pressure. Oral calcium channel antagonists (CCA) that allow pulmonary arterial vasodilation are the treatment of choice. The therapeutic effect is strongly depending on adequate drug intake.

Ciliary dyskinesia in severe asthma is not affected by chronic mucus hypersecretion.

https://bit.ly/3JNUgGr.

Temporal Stability of Ciliary Beating Post Nasal Brushing, Modulated by Storage Temperature.

Primary ciliary dyskinesia is a heterogeneous, inherited motile ciliopathy in which respiratory cilia beat abnormally, and some ultrastructural ciliary defects and specific genetic mutations have been associated with particular ciliary beating alterations. Ciliary beating can be evaluated using digital high-speed videomicroscopy (DHSV). However, normal reference values, essential to assess ciliary beating in patients referred for a PCD diagnostic, vary between centres, as minor variations in protocols might influence ciliary beating.

Growing up with Idiopathic Pulmonary Arterial Hypertension: An Arduous Journey.

Idiopathic pulmonary arterial hypertension (IPAH) is an uncommon and severe disease. We report the case of a 7-year-old boy investigated for cardiac murmur and exercise intolerance. Pulmonary hypertension (PH) was suspected at clinical examination and confirmed by echocardiography and cardiac catheterization.

Unusual Cardiac Manifestations of a Pheochromocytoma in a Girl.

We report the case of an 11-year-old girl who complained about severe asthenia, orthostatic dizziness and abdominal pain for 4 weeks. The primary investigation concluded on febrile urinary tract infection treated by antibiotics. Symptom persistence prompted cardiological and endocrinological investigations.

[Complex congenital heart disease : about a case of Noonan syndrome].

We present the case of a young girl in whom pre-natal echocardiography showed double outlet right ventricle associated with severe infundibular- and pulmonary valve stenosis. The genetic testing has shown a mutation on the LZTR1 gene, which confirms the diagnosis of a Noonan Syndrome, also present in the mother and an elder sister. The infant was born premature at 34 weeks and 5 days of gestational age.

Cerebral Seizures in an Adolescent with Jervell and Lange-Nielsen Syndrome: It May Not Be Epilepsy.

A 13-year-old girl with Jervell and Lange-Nielsen syndrome associated congenital long QT syndrome (LQTS) and central deafness was admitted for generalized seizures. LQTS had been diagnosed after birth and confirmed at genetic testing. β-blocker treatment was immediately started.

Pancytopenia Due to Vitamin B12 and Folic Acid Deficiency-A Case Report.

We report a case of severe pancytopenia in a 15-year-old patient due to a severe deficiency in vitamin B12 and folic acid, probably of nutritional origin. The clinical and biological course was favorable after vitamin supplementation. With this case, we discuss the diagnostic approach of pancytopenia with megaloblastic anemia in children and adolescents, as well as the mechanisms involved in vitamin B12 and B9 deficiency.

Uni-ventricular palliation vs. bi-ventricular repair: differential inflammatory response.

Background: To examine whether uni-ventricular palliation (UVP) and bi-ventricular repair (BVR) result in a different pattern of systemic inflammatory response to pediatric cardiac surgery with extra-corporeal circulation (ECC).

Methods: In 20 children (median age 39.5 months) undergoing either UVP (n = 12) or BVR (n = 8), plasma levels of the inflammatory cytokines TNF-α, IL-6, IL-10, and IL-12 and of procalcitonin (PCT), were measured before, during and after open cardiac surgery up to postoperative day (POD) 10.

[How I explore… hémostatic abnormalities in pediatrics].

Hemostasis work-up is frequently requested in pediatric cares and can often seem complicated to interpret when certain results return to be abnormal. In addition, these biological tests are very sensitive and several pre-analytical conditions can influence them and skew the results, leading to erroneous analyzes and diagnoses. Indeed, systemic inflammation, anemia or even only the delay between blood sampling and analysis can make the results more difficult to be interpreted.

[Impact of COVID-19 outbreak on domestic violence and child abuse].

Among the somatic and medical consequences of the pandemic linked to COVID-19, the increase in the rate of domestic violence and child abuse is one of the most serious and significant encountered in pediatrics. Indeed, if the reporting rate of ill-treatment of minors was abnormally low during the confinement of March-May 2020, the reopening of schools and psycho-social intervention teams in the spring made it possible to highlight a signifi¬cant increase in the number of worrying clinical situations. In some cases that meet strict hospitalization criteria, the social services call on specialized teams to take care of child victims of abuse.

[About a pediatric patients cohort followed in the adult rheumatology department of CHU Liège].

We realized an observational retrospective study about pediatric patients (between 1 to 18 years) followed at the CHU Liège in an adult rheumatologic service during the last 14 years. This study identified 102 patients who developed the first symptoms during infancy, identifying 39 different diseases. Mainly, we identify cases of idiopathic juvenile arthritis, rheumatoid arthritis, spondylarthropathies, systemic lupus erythematosus, systemic vasculitis, connective tissue diseases, bone diseases, and phosphocalcic metabolic disorders.

Myocardial Expression of Estrogen Receptor-mRNA Is Associated With Lower Markers of Post-operative Organ Damage in Young Patients With Congenital Cardiac Defect.

Estrogen receptors (ERs) relate to cardio-protection in adults, but their role in younger patients is not known. We aimed to assess the myocardial expression of ERα- and ERβ- mRNA in young patients with congenital cardiac disease and to analyze their putative protective role. Twenty children and young adults (seven females and 13 males) with a median age of 13.

[The rise of targeted therapies in pediatric oncology].

Cancers are rare pathologies in children. Improvement in survival rates has been obtained thanks to new therapeutic strategies based on the identification of risk factors. Targeted therapies in paediatric oncology are new treatments providing hope that cure is achievable without long-term sequelae.

[Treatment of tracheo(broncho)malacia in children].

Tracheomalacia (TM) is characterized by tracheal collapse due to an intrinsic anomaly resulting in a lack of rigidity of the cartilaginous rings and/or the posterior membrane during expiration, coughing or crying. It may also be secondary to external compression or acquired during endobronchial diseases. TM is commonly associated with other syndromes or airway abnormalities.

[Autosomal dominant polycystic kidney disease : a pediatric perspective].

Polycystic kidney disease (PKD) is the most prevalent inherited kidney disease. The disease is usually asymptomatic until adulthood. End-stage renal disease occurs generally after the age of 55 years, with a large inter-individual variability.

Nasal Brushing Sampling and Processing using Digital High Speed Ciliary Videomicroscopy - Adaptation for the COVID-19 Pandemic.

Primary Ciliary Dyskinesia (PCD) is a genetic motile ciliopathy, leading to significant otosinopulmonary disease. PCD diagnosis is often missed or delayed due to challenges with different diagnostic modalities. Ciliary videomicroscopy, using Digital High-Speed Videomicroscopy (DHSV), one of the diagnostic tools for PCD, is considered the optimal method to perform ciliary functional analysis (CFA), comprising of ciliary beat frequency (CBF) and beat pattern (CBP) analysis.

[Pediatric cutaneous mastocytosis].

Mastocytosis are orphan diseases characterized by the accumulation of mast cells in one or more organs. A distinction is made between systemic forms (10 %) and pure cutaneous forms (90 %), the latter being mainly pediatric and generally having a spontaneously favourable prognosis. In the absence of a systemic sign, the diagnostic criteria for cutaneous mastocytosis are Darier's sign, in principle, pathognomonic, as well as skin histology confirming mast cell infiltration.