Lung biopsies in infants and children in critical care situation.

Introduction: Lung biopsy is considered as the last step investigation for diagnosing lung diseases; however, its indication must be carefully balanced with its invasiveness. The present study aims to evaluate the diagnostic yield of lung biopsy in critically ill patients hospitalized in the pediatric intensive care unit (ICU).

Material And Methods: Children who underwent a lung biopsy in the ICU between 1995 and 2022 were included.

Prenatal diagnosis of pontocerebellar hypoplasia with postnatal follow-up.

Objective: To describe the MR features enabling prenatal diagnosis of pontocerebellar hypoplasia (PCH).

Method: This was a retrospective single monocentre study. The inclusion criteria were decreased cerebellar biometry on dedicated neurosonography and available fetal Magnetic Resonance Imaging (MRI) with PCH diagnosis later confirmed either genetically or clinically on post-natal MRI or by autopsy.

Reversed cortico-medullary differentiation in the fetal and neonatal kidneys: an indicator of poor prognosis?

Background: Bilateral reversed cortico-medullary differentiation is rarely observed on fetal or neonatal renal ultrasound and is therefore a diagnostic challenge.

Objective: Our purpose was to widen the differential diagnoses of fetal and neonatal nephropathies introducing reversed cortico-medullary differentiation as a clue either on obstetric US or during follow-up of hyperechoic kidneys in order to improve the management of such rare clinical situations.

Materials And Methods: We retrospectively reviewed the US images of 11 patients showing bilateral reversed cortico-medullary differentiation on prenatal examination or in which this pattern developed postnatally in the follow-up of fetal hyperechoic kidneys.

An evaluation of an open access iPSC training course: "How to model interstitial lung disease using patient-derived iPSCs".

Background: Interstitial lung diseases (ILD) are a group of rare lung diseases with severe outcomes. The COST Innovator Grant aims to establish a first-of-a-kind open-access Biorepository of patient-derived induced pluripotent stem cells (iPSC) and to train researchers in the skills required to generate a robust preclinical model of ILD using these cells. This study aims to describe and evaluate the effectiveness of a training course designed to train researchers in iPSC techniques to model ILD.

mutation-related hereditary pulmonary alveolar proteinosis: the "long and winding road" into adulthood.

https://bit.ly/3QcsYwM.

Using AI to Improve Radiologist Performance in Detection of Abnormalities on Chest Radiographs.

Background Chest radiography remains the most common radiologic examination, and interpretation of its results can be difficult. Purpose To explore the potential benefit of artificial intelligence (AI) assistance in the detection of thoracic abnormalities on chest radiographs by evaluating the performance of radiologists with different levels of expertise, with and without AI assistance. Materials and Methods Patients who underwent both chest radiography and thoracic CT within 72 hours between January 2010 and December 2020 in a French public hospital were screened retrospectively.

"Unhappy triad" of the trauma elbow in children: Diagnosis, classification, and mid-term outcomes.

Background: The aim of this study was to describe the epidemiology, physiopathology, and outcomes of elbow "unhappy triad" trauma in children, combining a posterior dislocation, a proximal radius fracture, and a third lesion (i.e. bony or capsuloligamentous injury).

Acinar Dysplasia in a Full-Term Newborn with a NKX2.1 Variant.

Acinar dysplasia (AcDys) is one of the three main diffuse developmental disorders of the lung. The transcription factor NK2 homeobox 1 (NKX2.1) partly controls the synthesis of surfactant proteins by type 2 alveolar epithelial cells (AEC2), and germline mutations are known to be associated with brain-lung thyroid syndrome.

Outcome of lung transplantation for adults with interstitial lung disease associated with genetic disorders of the surfactant system.

Background: Interstitial lung disease associated with genetic disorders of the surfactant system is a rare entity in adults that can lead to lung transplantation. Our objective was to describe the outcome of these patients after lung transplantation.

Methods: We conducted a retrospective, multicentre study, on adults who underwent lung transplantation for such disease in the French lung transplant centres network, from 1997 to 2018.

Biomechanical evaluation of the spring ligament and the posterior tibial tendon by shear-waves elastography: validation of a reliable and reproducible measurement protocol.

Purpose: The anatomy of the spring ligament complex, as well as its pathology, is not well known in daily clinical practice. The purpose of this study was to evaluate the shear-wave elastography properties of the spring ligament and the posterior tibial tendon in healthy adults, and to assess the reliability and reproducibility of these measurements.

Methods: Shear-wave elastography was used to evaluate both ankles in 20 healthy patients (10 females/10 males) resting on a hinge support with their ankles in neutral, valgus 20° and varus 30° positions.

The upper limb in children with cerebral palsy. Evaluation and treatment.

Management of the upper limb in children with cerebral palsy is often complex and must be carried out by a team experienced in this field. Several clinical parameters must be taken into consideration, such as higher functions, visual problems, overall upper limb function, motor control, sensitivity, presence of hemineglect or synkinesis, limb position at rest and during walking. And last but not least, a complete analysis of the upper limb is required.

The significance of multidisciplinary team meetings in diagnosing and managing childhood interstitial lung disease within the RespiRare network.

Introduction: Childhood Interstitial Lung Disease (chILD) represents a rare and severe group of diseases for which the etiologic workup, classification, and management remain a challenge for most pediatric pulmonologists. In France in 2018, the RespiRare network established the first multidisciplinary team meetings (MDTm) dedicated to chILD. This study aims to investigate the impact of MDTm in chILD diagnosis and management as well as user satisfaction.

Nephrometry Scoring Systems for Nephron Sparing Surgery in Children.

The surgical decision to attempt nephron-sparing surgery (NSS) in children with renal tumors can be difficult. In adults, nephrometric tools are used for decision-making. More than 90% of low-complexity tumors are eligible for NSS, and high-complexity tumors often require total nephrectomy.

The Human Phenotype Ontology in 2024: phenotypes around the world.

The Human Phenotype Ontology (HPO) is a widely used resource that comprehensively organizes and defines the phenotypic features of human disease, enabling computational inference and supporting genomic and phenotypic analyses through semantic similarity and machine learning algorithms. The HPO has widespread applications in clinical diagnostics and translational research, including genomic diagnostics, gene-disease discovery, and cohort analytics. In recent years, groups around the world have developed translations of the HPO from English to other languages, and the HPO browser has been internationalized, allowing users to view HPO term labels and in many cases synonyms and definitions in ten languages in addition to English.

Clinical and genetic features of patients suffering from CMT4J.

Mutations in the FIG4 gene have been identified in various diseases, including amyotrophic lateral sclerosis, Parkinson's disease, and Charcot-Marie-Tooth 4 J (CMT4J), with a wide range of phenotypic manifestations. We present eight cases of CMT4J patients carrying the p.Ile41Thr mutation of FIG4.

Parents' experiences of parenting a child with profound intellectual and multiple disabilities in France: A qualitative study.

Introduction: Parents of persons with profound intellectual and multiple disabilities (PIMD) play a major and often lifelong role in the care and support of their child. A better understanding of parents' perspectives regarding their experiences of parenting their child with PIMD is essential to support them more effectively. Although this topic has been explored extensively in Anglo-Saxon and Northern European countries, little is known about the experience of these parents in a highly institutionalized context such as that in France.

MRI of brachial plexus using diffusion tensor imaging: a pilot study for the use of resolve sequence surgical and radiologic anatomy.

Background: Clinical exam is the goldstandard for surgical indication. ENMG and conventional MRI are insufficient to understand the highly variable clinical presentation of brachial plexus (BP) lesions. DTI is based on motion of water molecules and can explore nerve function.

An autosomal-dominant childhood-onset disorder associated with pathogenic variants in VCP.

Valosin-containing protein (VCP) is an AAA+ ATPase that plays critical roles in multiple ubiquitin-dependent cellular processes. Dominant pathogenic variants in VCP are associated with adult-onset multisystem proteinopathy (MSP), which manifests as myopathy, bone disease, dementia, and/or motor neuron disease. Through GeneMatcher, we identified 13 unrelated individuals who harbor heterozygous VCP variants (12 de novo and 1 inherited) associated with a childhood-onset disorder characterized by developmental delay, intellectual disability, hypotonia, and macrocephaly.