Non-canonical imprinting, manifesting as post-fertilization placenta-specific parent-of-origin dependent methylation, is not conserved in humans.

Genomic imprinting is the parent-of-origin dependent monoallelic expression of genes often associated with regions of germline-derived DNA methylation that are maintained as differentially methylated regions (gDMRs) in somatic tissues. This form of epigenetic regulation is highly conserved in mammals and is thought to have co-evolved with placentation. Tissue-specific gDMRs have been identified in human placenta, suggesting that species-specific imprinting dependent on unorthodox epigenetic establishment or maintenance may be more widespread than previously anticipated.

Interpretation and classification of FBN1 variants associated with Marfan syndrome: consensus recommendations from the Clinical Genome Resource's FBN1 variant curation expert panel.

Background: In 2015, the American College of Medical Genetics and Genomics (ACMG) and the Association for Molecular Pathology (AMP) developed standardized variant curation guidelines for Mendelian disorders. Although these guidelines have been widely adopted, they are not gene- or disease-specific. To mitigate classification discrepancies, the Clinical Genome Resource FBN1 variant curation expert panel (VCEP) was established in 2018 to develop adaptations to the ACMG/AMP criteria for FBN1 in association with Marfan syndrome.

De Novo Balanced Translocations Disrupting the FBN1 Gene Diagnosed by Genome Sequencing: An Uncommon Cause of Marfan Syndrome Modifying Genetic Counseling.

Marfan syndrome (MFS) is a well-characterized rare genetic connective tissue disorder. The features of MFS are primarily skeletal, ocular, and cardiovascular and are mainly caused by single-nucleotide variants (SNVs) in the FBN1 gene (MIM#134797) located on chromosome 15q21.1.

Urinary schistosomiasis: The Corsican file.

Schistosomiasis, known as bilharzia, is a parasitic disease caused by trematodes of the genus Schistosoma, found primarily in Africa and pockets of the Middle East. Southern Europe seems to be a breeding ground for urogenital schistosomiasis emergence. Ten and five years have passed since the first and the last cases of urogenital schistosomiasis were identified in Corsica (patients who have bathed in the Cavu and/or Solenzara rivers between 2013 and 2019).

[Femoroacetabular impingement : treatment].

The concept of femoro-acetabular impingement (FAI) rests on three pillars: cam-deformity, pincer-deformity and abnormal femoral torsion. Several treatment modalities exist, ranging from conservative management to open or arthroscopic surgery. The type of treatment depends on the pathomorphology, the severity of symptoms, thepatient's age and the extent of the degenerative lesions.

[Femoroacetabular impingement in 2024 : concept and diagnosis].

Femoroacetabular impingement (FAI) is a condition that predominantly affects young people between the ages of 20 and 40. It is characterized by hip pain associated with reduced range of movement of the hip joint. If left untreated, FAI leads to osteoarthritis.

Multiparametric influence of 3D-printed organo-mineral scaffolds on bone regeneration.

The development of synthetic bone substitutes that equal or exceed the efficacy of autologous graft remains challenging. In this study, a rat calvarial defect model was used as a reference to investigate the influence of composition and architecture of 3D-printed cement, with or without bioactives, on tissue regeneration. Printable cement pastes were formulated by combining hyaluronic acid and cement precursors.

Surgical Tips: Managing the Orthopedic Traction Table on Gritti-Stokes Amputated Patients.

Introduction: Closed anatomical reduction of per-trochanteric fractures requires 3-axis control of the orthopedic traction table (OTT) which is challenging in patients having suffered a previous ipsilateral Gritti-Stokes amputation.

Case Report: A 52-year-old man, known by Gritti-Stokes amputated (GSA) 10 years before, was admitted to our trauma center after a fall from his height. We describe a simple method for positioning a previously ipsilateral GSA patient in an OTT to reduce displaced a femoral per-trochanteric fracture site and to maintain it during surgery.

Pathogenic variants affecting the TB5 domain of the fibrillin-1 protein: not only in geleophysic/acromicric dysplasias but also in Marfan syndrome.

Background: Marfan syndrome (MFS) is a multisystem disease with a unique combination of skeletal, cardiovascular and ocular features. Geleophysic/acromicric dysplasias (GPHYSD/ACMICD), characterised by short stature and extremities, are described as 'the mirror image' of MFS. The numerous pathogenic variants identified in MFS are located all along the gene and lead to the same final pathogenic sequence.

Biallelic non-productive enhancer-promoter interactions precede imprinted expression of Kcnk9 during mouse neural commitment.

It is only partially understood how constitutive allelic methylation at imprinting control regions (ICRs) interacts with other regulation levels to drive timely parental allele-specific expression along large imprinted domains. The Peg13-Kcnk9 domain is an imprinted domain with important brain functions. To gain insights into its regulation during neural commitment, we performed an integrative analysis of its allele-specific epigenetic, transcriptomic, and cis-spatial organization using a mouse stem cell-based corticogenesis model that recapitulates the control of imprinted gene expression during neurodevelopment.

Influence of pH on indole-dependent heterodimeric interactions between Anopheles gambiae odorant-binding proteins OBP1 and OBP4.

Insect Odorant Binding Proteins (OBPs) constitute important components of their olfactory apparatus, as they are essential for odor recognition. OBPs undergo conformational changes upon pH change, altering their interactions with odorants. Moreover, they can form heterodimers with novel binding characteristics.

World Catalogue of the family Thaumaleidae (Diptera: Culicomorpha).

Family, genus and species group names in the family Thaumaleidae (Diptera: Culicomorpha) are catalogued, including information on name-bearing types, distribution by country and 428 references to all literature known to us pertaining to this family. The Thaumaleidae or madicolous midges are known from 202 species in the following seven genera: Afrothaumalea Stuckenberg, 1960 (3 species), Androprosopa Mik, 1898 (59 species), Austrothaumalea Tonnoir, 1927 (44 species), Neothaumalea Pivar, Moulton & Sinclair, 2018 (1 species), Niphta Theischinger, 1986 (14 species), Thaumalea Ruthe, 1831 (77 species) and Trichothaumalea Edwards, 1929 (4 species). In addition, one fossil genus and species are known (Mesothaumalea fossilis Kovalev).

[Osteoarticular surgery of the hand in rheumatoid patients].

Surgical treatment of hands in rheumatoid arthritis is adapted to functional and aesthetical needs of the patient. In dialogue between the patient, rheumatologist and general practitioner, the hand surgeon tailors the solution in each case. During last 20 years, the biological drugs have revolutionized the medical treatment, in parallel the hand surgery developed mostly in the domain of arthroplasty.

Variable allelic expression of imprinted genes at the , , cluster in single neural cells.

Genomic imprinting is an epigenetic process through which genes are expressed in a parent-of-origin specific manner resulting in mono-allelic or strongly biased expression of one allele. For some genes, imprinted expression may be tissue-specific and reliant on CTCF-influenced enhancer-promoter interactions. The imprinting cluster is associated with neurodevelopmental disorders and comprises canonical imprinted genes, which are conserved between mouse and human, as well as brain-specific imprinted genes in mouse.

[Genetic of thoracic aorta aneurysm].

The thoracic aortic aneurysm corresponds to the dilation of the ascending part of the aorta, which can lead to a dissection (TAAD for Thoracic Aortic Aneurysm and Dissection) or aortic rupture. The etiologies are diverse, but in approximately 20% of cases a genetic origin is found. About thirty genes are reported to be responsible for the development of TAAD.

The Long Non-Coding RNA Promotes Proliferation of Glioma Stem Cells and Modulates Their Inflammation Pathway Mainly through Post-Transcriptional Regulation.

Glioblastomas represent approximatively half of all gliomas and are the most deadly and aggressive form. Their therapeutic resistance and tumor relapse rely on a subpopulation of cells that are called Glioma Stem Cells (GSCs). Here, we investigated the role of the long non-coding RNA in GSC biology using descriptive and functional analyses of glioma samples classified according to their isocitrate dehydrogenase () gene mutation status, and of GSC lines.

L1 chimeric transcripts are expressed in healthy brain and their deregulation in glioma follows that of their host locus.

Besides the consequences of retrotransposition, long interspersed element 1 (L1) retrotransposons can affect the host genome through their antisense promoter. In addition to the sense promoter, the evolutionarily recent L1 retrotransposons, which are present in several thousand copies, also possess an anti-sense promoter that can produce L1 chimeric transcripts (LCT) composed of the L1 5' UTR followed by the adjacent genomic sequence. The full extent to which LCT expression occurs in a given tissue and whether disruption of the defense mechanisms that normally control L1 retrotransposons affects their expression and function in cancer cells, remain to be established.

Safety and Efficacy of VP-102 (Cantharidin, 0.7% w/v) in Molluscum Contagiosum by Body Region: Pooled Analyses from Two Phase III Randomized Trials.

Trial Registration: >ClinicalTrials.gov identifier nos. NCT03377790 (for CAMP-1) and NCT03377803 (for CAMP-2).

Cooperative Mechanism of ADAMTS/ ADAMTSL and Fibrillin-1 in the Marfan Syndrome and Acromelic Dysplasias.

The term "fibrillinopathies" gathers various diseases with a wide spectrum of clinical features and severity but all share mutations in the fibrillin genes. The first described fibrillinopathy, Marfan syndrome (MFS), is a multisystem disease with a unique combination of skeletal, thoracic aortic aneurysm (TAA) and ocular features. The numerous mutations identified in MFS are located all along the gene, leading to the same pathogenic mechanism.

An Expanded Survey of the Moth PBP/GOBP Clade in : New Insight into Expression and Functional Roles.

We studied the expression profile and ontogeny (from the egg stage through the larval stages and pupal stages, to the elderly adult age) of four OBPs from the silkworm moth . We first showed that male responsiveness to female sex pheromone in the silkworm moth does not depend on age variation; whereas the expression of BmorPBP1, BmorPBP2, BmorGOBP1, and BmorGOBP2 varies with age. The expression profile analysis revealed that the studied OBPs are expressed in non-olfactory tissues at different developmental stages.

A Giant Abdominal Aortic Aneurysm Revealing a Marfan Syndrome With a New FBN1 Mutation.

Marfan syndrome is a connective tissue disease that rarely presents first with peripheral aortic aneurysms. We highlight the case of a young man with Marfan syndrome presenting with an abdominal aortic aneurysm due to a heterozygous fibrillin-1 gene mutation.

Inhibition of HIPK2 Alleviates Thoracic Aortic Disease in Mice With Progressively Severe Marfan Syndrome.

Objective: Despite considerable research, the goal of finding nonsurgical remedies against thoracic aortic aneurysm and acute aortic dissection remains elusive. We sought to identify a novel aortic PK (protein kinase) that can be pharmacologically targeted to mitigate aneurysmal disease in a well-established mouse model of early-onset progressively severe Marfan syndrome (MFS).

Approach And Results: Computational analyses of transcriptomic data derived from the ascending aorta of MFS mice predicted a probable association between thoracic aortic aneurysm and acute aortic dissection development and the multifunctional, stress-activated HIPK2 (homeodomain-interacting protein kinase 2).

Clinical relevance of genotype-phenotype correlations beyond vascular events in a cohort study of 1500 Marfan syndrome patients with FBN1 pathogenic variants.

Purpose: Marfan syndrome (MFS) is a connective tissue disorder in which several systems are affected with great phenotypic variability. Although known to be associated with pathogenic variants in the FBN1 gene, few genotype-phenotype correlations have been found in proband studies only.

Methods: In 1,575 consecutive MFS probands and relatives from the most comprehensive database worldwide, we established survival curves and sought genotype-phenotype correlations.