Exome Sequencing of Fetuses With Intracranial Hemorrhage Unravels Novel Causative Genes and an Extreme Genetic Heterogeneity.

Objective: Fetal intracranial hemorrhage (FICH) is a rare and potentially deleterious condition. Fetal alloimmune thrombocytopenia and pathogenic variations in COL4A1/A2 genes are well-recognized causes of FICH. However, pathogenic COL4A1/A2 variations are identified in only 20% of fetuses referred for FICH after excluding other known causes, leaving the majority unexplained and making genetic counseling difficult.

Association between emergency medical services' response times, low socioeconomic status, and poorer outcomes in out-of-hospital cardiac arrest: the MEDIC multicenter retrospective cohort study for disparities in access to prehospital critical care in the Paris metropolitan area.

Background And Importance: Prolonged emergency medical services' response times (EMS-RT) are associated with poorer outcomes in out-of-hospital cardiac arrest (OHCA). The patient access time interval (PATI), from vehicle stop until contact with patient, may be increased in areas with low socioeconomic status (SES).

Objectives: The objective of this study is to identify predictors of prolonged EMS-RT intervals, and to evaluate associations with clinical outcomes in OHCAs occurring in the largest metropolitan area in France.

TANGO2-related rhabdomyolysis symptoms are associated with abnormal autophagy functioning.

Patients with pathogenic variants in the gene suffer from severe and recurrent rhabdomyolysis episodes precipitated by fasting. Autophagy functioning was analyzed , in primary skeletal myoblasts from TANGO2 patients, in basal and fasting conditions, and mutations were associated with reduced LC3-II levels upon starvation. In zebrafish larvae, inhibition induced locomotor defects which were exacerbated by exposure to atorvastatin, a compound known to cause rhabdomyolysis.

Closure of a Late-Onset Iatrogenic Left Ventricular Pseudoaneurysm Caused by Erosion of an Apical Muscular VSD Device.

We report the case of a 3-year-old asymptomatic girl (12 kg, 96 cm) who was diagnosed with a large iatrogenic left ventricular pseudoaneurysm (LVP) on follow-up ultrasound, 14 months after apical muscular ventricular septal defect (VSD) closure with a 10 mm Amplatzer Muscular VSD occluder (Abbott, USA) due to device erosion. The LVP was successfully occluded using detachable Penumbra coils, with complete thrombo-exclusion confirmed at 12-month follow-up.

Covered Stent Correction for Sinus Venosus Atrial Septal Defects, an Emerging Alternative to Surgical Repair: Results of an International Registry.

Background: Covered stent correction for a sinus venosus atrial septal defect (SVASD) was first performed in 2009. This innovative approach was initially viewed as experimental and was reserved for highly selected patients with unusual anatomic variants. In 2016, increasing numbers of procedures began to be performed, and in several centers, it is now offered as a standard of care option alongside surgical repair.

Interventional Treatment of Acute Right Ventricular Outflow Tract Infectious Endocarditis: A Bridge to Surgical or Percutaneous Pulmonary Valve Replacement.

Background: Infective endocarditis (IE) poses significant risks following percutaneous pulmonary valve implantation (PPVI) or surgical replacement (PVR).

Aims: This study evaluates the effectiveness of emergency percutaneous treatment in stabilizing patients with severe right ventricular dysfunction or obstructive cardiac shock, allowing for delayed surgical or percutaneous valve replacement.

Methods: This retrospective study examines 16 patients (age 19.

Active learning for extracting rare adverse events from electronic health records: A study in pediatric cardiology.

Objective: Automate the extraction of adverse events from the text of electronic medical records of patients hospitalized for cardiac catheterization.

Methods: We focused on events related to cardiac catheterization as defined by the NCDR-IMPACT registry. These events were extracted from the Necker Children's Hospital data warehouse.

Albumin orchestrates a natural host defense mechanism against mucormycosis.

Mucormycosis is an emerging, life-threatening human infection caused by fungi of the order Mucorales. Metabolic disorders uniquely predispose an ever-expanding group of patients to mucormycosis via poorly understood mechanisms. Therefore, it is highly likely that uncharacterized host metabolic effectors confer protective immunity against mucormycosis.

Synchronous bilateral adrenalectomy for ACTH-independent Cushing's syndrome in children: multidisciplinary management.

Objective: Adreno CorticoTropic Hormone (ACTH)-independent Cushing's syndrome (CS) in children is very rare but potentially fatal. In bilateral nodular hyperplasia, synchronous bilateral adrenalectomy (SBA) represents the definitive treatment to correct hypercortisolism. We aim to report the multidisciplinary management of this rare condition.

Diagnosis, management and treatment of the Alport syndrome - 2024 guideline on behalf of ERKNet, ERA and ESPN.

Glomerular nephropathy resulting from the genetic defects in COL4A3/4/5 genes including the classical Alport syndrome (AS) is the second commonest hereditary kidney disease characterized by persistent haematuria progressing to the need of kidney replacement therapy, frequently associated with sensorineural deafness, and occasionally with ocular anomalies. Diagnosis and management of COL4A3/4/5 glomerulopathy is a great challenge due to its phenotypic heterogeneity, multiple modes of inheritance, variable expressivity, and disease penetrance of individual variants as well as imperfect prognostic and progression factors and scarce and limited clinical trials, especially in children. As a joint initiative of the European Rare Kidney disease reference Network (ERKNet), European Renal Association (ERA Genes&Kidney) and European Society for Paediatric Nephrology (ESPN) Working Group Hereditary Kidney Disorders, a team of experts including adult and paediatric nephrologists, kidney geneticists, audiologists, ophthalmologists and a kidney pathologist were selected to perform a systematic literature review on 21 clinically relevant PICO (Patient or Population covered, Intervention, Comparator, Outcome) questions.

Long-Acting Growth Hormone Therapy in Pediatric Growth Hormone Deficiency: A Consensus Statement.

Context: Several long-acting growth hormone (LAGH) therapies have recently become available, but guidance on their usage in children with growth hormone (GH) deficiency is limited.

Methods: International experts in pediatric endocrinology were invited to join a consensus group based on their expertise in treating children with daily GH and LAGH. The group comprised 11 experts from 10 countries across the world.

Circulatory response to exercise relative to oxygen uptake assessed in the follow-up of patients with fatty acid beta-oxidation disorders.

Patients with fatty acid oxidation disorders (FAODs) experience muscle symptoms due to impaired ATP metabolism and the toxicity of accumulated mitochondrial FAO substrates or intermediates, especially during catabolic states. A major issue is the absence of specific and sensible biomarkers to evaluate metabolic equilibrium. The relationship between cardiac output (Q) and oxygen consumption (VO) during incremental exercise (dQ/dVO) provides an indirect surrogate of mitochondrial function.

Haematopoietic gene therapy of non-conditioned patients with Fanconi anaemia-A: results from open-label phase 1/2 (FANCOLEN-1) and long-term clinical trials.

Background: Allogeneic haematopoietic stem-cell transplantation is the standard treatment for bone marrow failure (BMF) in patients with Fanconi anaemia, but transplantation-associated complications such as an increased incidence of subsequent cancer are frequent. The aim of this study was to evaluate the safety and efficacy of the infusion of autologous gene-corrected haematopoietic stem cells as an alternative therapy for these patients.

Methods: This was an open-label, investigator-initiated phase 1/2 clinical trial (FANCOLEN-1) and long-term follow-up trial (up to 7 years post-treatment) in Spain.

Insulin-degrading enzyme regulates insulin-directed cellular autoimmunity in murine type 1 diabetes.

Type 1 diabetes results from the destruction of pancreatic beta cells by autoreactive T cells. As an autoantigen with extremely high expression in beta cells, insulin triggers and sustains the autoimmune CD4 and CD8 T cell responses and islet inflammation. We have previously shown that deficiency for insulin-degrading enzyme (IDE), a ubiquitous cytosolic protease with very high affinity for insulin, induces endoplasmic reticulum (ER) stress and proliferation in islet cells and protects non-obese diabetic mice (NOD) from diabetes.

Beyond genomic studies of congenital heart defects through systematic modelling and phenotyping.

Congenital heart defects (CHDs), the most common congenital anomalies, are considered to have a significant genetic component. However, despite considerable efforts to identify pathogenic genes in patients with CHDs, few gene variants have been proven as causal. The complexity of the genetic architecture underlying human CHDs likely contributes to this poor genetic discovery rate.

Light transmission aggregometry for platelet function testing: position paper on current recommendations and French proposals for accreditation.

Light transmission aggregometry (LTA) is a method used to investigate platelet functions in platelet-rich plasma (PRP), notably when screening for platelet disorders. Various national guidelines and recommendations help in setting up the LTA test in specialized laboratories. However, due to the nature of the sample matrix and its subsequent specificities, more accurate positions are needed to achieve LTA accreditation according to the standard NF EN ISO 15 189.

Rare genetic interstitial lung diseases: a pictorial essay.

The main monogenic causes of pulmonary fibrosis in adults are mutations in telomere-related genes. These mutations may be associated with extrapulmonary signs (hepatic, haematological and dermatological) and typically present radiologically as usual interstitial pneumonia or unclassifiable fibrosis. In children, the monogenic causes of pulmonary fibrosis are dominated by mutations in surfactant-related genes.

Penumbra Indigo® system to safely remove intracardiac thrombus in a 7-month-old infant with severe immunodeficiency disorder.

We report on a 7-month-old boy (4.2 kg/60 cm) with severe immunodeficiency disorder and bacterial septicaemia who was referred for an infected atrial thrombus secondary to a jugular central line. The echocardiogram showed a teardrop-shaped thrombus with a wide base adherent to the interatrial wall and a flimsy tail moving freely in the right atrium.

[National protocol for diagnosis and care of retinopathy of prematurity: Summary for the attending physician].

Retinopathy of prematurity (ROP, ORPHA: 90050) is the main cause of visual impairment in preterm infants and the leading preventable cause of childhood blindness in high- and middle-income countries. However, severe stages of the disease remain rare. While screening recommendations for the disease are well-established in France, management of ROP requiring treatment is less standardized, especially since new therapeutic options have been approval on this indication.

The place of JAK inhibitors in systemic juvenile idiopathic arthritis with lung disease (SJIA-LD): French experience.

Objectives: A new form of systemic juvenile idiopathic arthritis (SJIA) with associated lung disease (SJIA-LD) has recently been described. Multiple lines of treatment have failed to yield satisfactory results for this disorder. JAK inhibitors (JAKis) have recently been approved for the treatment of JIA, but clinical evidence of their efficacy in SJIA-LD is still weak.