Digenic Inheritance Mode in Congenital Hypothyroidism due to Thyroid Dysgenesis: HYPOTYGEN translational cohort study.

Context: Congenital hypothyroidism (CH) is the most common neonatal endocrine disorder and is chiefly caused by thyroid dysgenesis (CHTD). The inheritance mode of the disease remains complex.

Objectives: Gain insight into the inheritance mode of CHTD.

Current approach to diagnosis and management of low-phospholipid associated cholelithiasis syndrome.

Purpose Of Review: Low phospholipid-associated cholelithiasis (LPAC) syndrome is a rare genetic form of intrahepatic cholesterol lithiasis, affecting mainly young adults. This review describes the recent advances in genetic and clinical characterization, diagnosis and management of LPAC syndrome.

Recent Findings: Recent publications report data from several retrospective cohorts.

Molecular insights into myelomeningocele via proteomic analysis of amniotic fluid.

Despite numerous studies on fetal therapy for myelomeningoceles (MMC), the pathophysiology of this malformation remains poorly understood. This study aimed to analyze the biochemical profile and proteome of amniotic fluid (AF) supernatants from MMC fetuses to explore the prenatal pathophysiology. Biochemical analysis of 61 AF samples from MMC fetuses was compared with 45 healthy fetuses' samples.

Development of a New Score Based on Image Defined Risk Factors to Standardize Surgical Risk in Neuroblastoma Resection - A SIOPEN Collaborative Study.

Background And Aims: Image Defined Risk Factors (IDRFs) assess surgical risk in neuroblastoma (NB) and guide neoadjuvant therapy. Despite chemotherapy IDRFs may persist in 70 % of cases. Several studies have suggested that not all IDRFs hold equal significance and that the presence of an IDRF does not inherently signify unresectability.

The characterization of new de novo CACNA1G variants affecting the intracellular gate of Cav3.1 channel broadens the spectrum of neurodevelopmental phenotypes in SCA42ND.

Purpose: Missense de novo variants in CACNA1G, which encodes the Cav3.1 T-type calcium channel, have been associated with a severe, early-onset form of cerebellar disorder with neurodevelopmental deficits (SCA42ND). We explored a large series of pediatric cases carrying heterozygous variants in CACNA1G to further characterize genotype-phenotype correlations in SCA42ND.

Efficacy and safety of recombinant activated factor VII in Glanzmann thrombasthenia: A systematic literature review.

Background: Platelet transfusion is considered the standard treatment for preventing or controlling severe haemorrhage in Glanzmann thrombasthenia (GT). However, platelet transfusion can have detrimental effects, including the production of anti-GPIIb/IIIa isoantibodies or anti-HLA antibodies (Ab) and platelet transfusion refractoriness. Recombinant activated factor VII (rFVIIa) has been proposed as an alternative treatment to platelet transfusion.

Lupus-associated hypoprothrombinemia syndrome in children: Differences between post-infectious and autoimmune forms.

Introduction: Lupus-anticoagulant hypoprothrombinemia syndrome (LAHS) is a rare but potentially serious condition. LAHS can be of post-infectious (PI) or autoimmune (AI) origin. However, there is currently no clear data available on the differences between these two forms.

Classic Hodgkin Lymphoma: The LYSA pragmatic guidelines.

Classic Hodgkin lymphoma (HL) is a distinct entity among hematological malignancies of B-cell origin. It is characterized by its unique histopathological features and generally favorable prognosis. Over the years, advancements in understanding its pathogenesis, coupled with refined diagnostic and evaluation modalities, as well as therapeutic strategies, have significantly transformed the landscape of HL management.

Hypospadias Associated With Fetal Growth Restriction: A Multicentric Descriptive and Prognostic Cohort Study.

Objective: To determine the prevalence of genetic and endocrine abnormalities and to assess fetal, neonatal and surgical outcomes in cases of hypospadias associated with fetal growth restriction.

Method: A multicentric retrospective study was conducted across five prenatal diagnosis centers in Paris. The cohort encompassed all fetuses diagnosed with the combination of fetal growth restriction < 10th percentile (FGR) and hypospadias from 2013 to 2021.

3D external shape analysis and barycentremetry can provide early signs of progression in adolescent idiopathic scoliosis.

Purpose: Our objective was to analysis the barycentremetry, obtained from the external envelope reconstruction of biplanar radiographs, in adolescent idiopathic scoliosis (AIS) and to determine whether assessing would help predict the distinction between progressive and stable AIS at the early stage.

Methods: A retrospective study with a multicentre cohort of 205 AIS was conducted. All AIS underwent a biplanar X-ray between 2013 and 2020.

Predictive factors to return to sport after surgical management of ankle fractures.

Achieving Return to Sport (RTS) is crucial in managing ankle fractures for athletes. This study aimed to identify RTS factors post-surgical fixation of ankle fractures. A retrospective analysis was conducted on 93 active patients with surgically treated displaced or unstable ankle fractures from January 2020 to January 2021.

Growth velocity of fetal sacrococcygeal teratoma as predictor of perinatal morbidity and mortality: multicenter study.

Objective: To identify prenatal predictors of poor perinatal outcome in fetuses with isolated sacrococcygeal teratoma (SCT).

Methods: This was a retrospective study of fetuses with isolated (non-syndromic) SCT managed at one of five pediatric surgery and/or fetal medicine centers between January 2007 and December 2017. The primary outcome was the occurrence of poor perinatal outcome, defined as prenatal death (including termination), or neonatal death or severe compromise (hemorrhagic shock).

CD36 cell surface expression as a surrogate marker to identify ABL/JAK-class kinase fusions in pediatric BCP-ALL.

Genetic alterations are the cornerstone of risk stratification in B-cell precursor acute lymphoblastic leukemia (BCP-ALL), and their accurate identification is critical for optimal treatment. Most cases with ABL-class fusion are classified as high-risk yet display good responses to tyrosine kinase inhibitors (TKIs). Current clinical protocols recommend adding a TKI to chemotherapy as soon as possible, making it mandatory to rapidly identify these alterations.

Li-Fraumeni-associated osteosarcomas: The French experience.

Purpose: Describe clinical characteristics and outcome of Li-Fraumeni syndrome (LFS)-associated osteosarcomas.

Methods: TP53 germline pathogenic/likely pathogenic variant carriers diagnosed with osteosarcoma in France between 1980 and 2019 were identified via the French Li-Fraumeni database at Rouen University Hospital. Sixty-five osteosarcomas in 52 patients with available clinical and histological data were included.

Caudal vertebra rat free flap in the groin: A preliminary study of a new combined osteocutaneous flap model.

Introduction: Murins were used for microsurgical training but in the literature, only a few papers reported about murin combination of flaps and fewer about osteocutaneous ones. We proposed a rat model of a combined osteocutaneous flap in which the pedicle axis is intentionally lengthened.

Technical Note: From June to August 2020, one corpse and eight living Albinos Wistar rats were dissected.

Role of Amniotic Fluid Toxicity in the Pathophysiology of Myelomeningocele: A Narrative Literature Review.

Myelomeningocele is a birth defect whose clinical manifestations are due both to incomplete neural tube closure and the progressive destruction of exposed neuroepithelium during pregnancy. Two hypotheses have been formulated to explain the spinal cord damage in utero: mechanical trauma and chemical factors. The objective of this review was to summarize the current insights about the potential role of amniotic fluid in spinal cord damage in myelomeningocele.

Health status of individuals with polyhandicap across a 5-year follow-up period.

The present longitudinal study examined a large sample of individuals with PIMD/Polyhandicap to: (i) describe the evolution over time of the health status in terms of severity, (ii) identify the potential predictors of health status change. This study used the data of the French national EVAL-PLH cohort. Inclusion criteria were: individuals with PIMD/Polyhandicap; age > 3 years at the time of inclusion; age at onset of cerebral lesion younger than 3 years old.