keyword
https://read.qxmd.com/read/38534776/the-influence-of-neurotrophins-on-the-brain-lung-axis-conception-pregnancy-and-neonatal-period
#1
REVIEW
Federica D'Amico, Cecilia Lugarà, Giovanni Luppino, Carlo Giuffrida, Ylenia Giorgianni, Eleonora Maria Patanè, Sara Manti, Antonella Gambadauro, Mariarosaria La Rocca, Tiziana Abbate
Neurotrophins (NTs) are four small proteins produced by both neuronal and non-neuronal cells; they include nerve growth factor (NGF), brain-derived neurotrophic factor (BDNF), neurotrophin-3 (NT-3), and neurotrophin-4 (NT-4). NTs can exert their action through both genomic and non-genomic mechanisms by interacting with specific receptors. Initial studies on NTs have identified them only as functional molecules of the nervous system. However, recent research have shown that some tissues and organs (such as the lungs, skin, and skeletal and smooth muscle) as well as some structural cells can secrete and respond to NTs...
March 15, 2024: Current Issues in Molecular Biology
https://read.qxmd.com/read/38534443/new-genetic-variants-of-runx2-in-mexican-families-cause-cleidocranial-dysplasia
#2
JOURNAL ARTICLE
Jaime Toral López, Sandra Gómez Martinez, María Del Refugio Rivera Vega, Edgar Hernández-Zamora, Sergio Cuevas Covarrubias, Belem Arely Ibarra Castrejón, Luz María González Huerta
Cleidocranial dysplasia (CCD) is an autosomal dominant skeletal dysplasia characterized by persistent open skull sutures with bulging calvaria, hypoplasia, or aplasia of clavicles permitting abnormal opposition of the shoulders; wide public symphysis; short middle phalanx of the fifth fingers; and vertebral, craniofacial, and dental anomalies. It is a rare disease, with a prevalence of 1-9/1,000,000, high penetrance, and variable expression. The gene responsible for CCD is the Runt-related transcription factor 2 ( RUNX2 ) gene...
March 8, 2024: Biology
https://read.qxmd.com/read/38529507/transcriptomic-signature-and-pro-osteoclastic-secreted-factors-of-abnormal-bone-marrow-stromal-cells-in-fibrous-dysplasia
#3
Zachary Michel, Layne N Raborn, Tiahna Spencer, Kristen Pan, Daniel Martin, Kelly L Roszko, Yan Wang, Pamela G Robey, Michael T Collins, Alison M Boyce, Luis Fernandez de Castro Diaz
Fibrous dysplasia (FD) is a mosaic skeletal disorder caused by somatic activating variants in GNAS , encoding for Gα s , which leads to excessive cAMP signaling in bone marrow stromal cells (BMSCs). Despite advancements in our understanding of FD pathophysiology, the effect of Gα s activation in the BMSC transcriptome remains unclear, as well as how this translates into their local influence in the lesional microenvironment. In this study, we analyzed changes induced by Gα s activation in BMSC transcriptome and performed a comprehensive analysis of their production of cytokines and other secreted factors...
February 28, 2024: bioRxiv
https://read.qxmd.com/read/38528055/decreased-calcium-permeability-caused-by-biallelic-trpv5-mutation-leads-to-autosomal-recessive-renal-calcium-wasting-hypercalciuria
#4
JOURNAL ARTICLE
Naz Guleray Lafci, Mark van Goor, Semra Cetinkaya, Jenny van der Wijst, Melisa Acun, Fatma Kurt Colak, Arda Cetinkaya, Joost Hoenderop
Hypercalciuria is the most common metabolic risk factor in people with kidney stone disease. Its etiology is mostly multifactorial, although monogenetic causes of hypercalciuria have also been described. Despite the increased availability of genetic diagnostic tests, the vast majority of individuals with familial hypercalciuria remain unsolved. In this study, we investigated a consanguineous pedigree with idiopathic hypercalciuria. The proband additionally exhibited severe skeletal deformities and hyperparathyroidism...
March 25, 2024: European Journal of Human Genetics: EJHG
https://read.qxmd.com/read/38526212/relative-contributions-of-osteal-macrophages-and-osteoclasts-to-postnatal-bone-development-in-csf1r-deficient-rats-and-phenotype-rescue-following-wild-type-bone-marrow-cell-transfer
#5
JOURNAL ARTICLE
Lena Batoon, Sahar Keshvari, Katharine M Irvine, Eileen Ho, Melanie Caruso, Omkar L Patkar, Anuj Sehgal, Susan M Millard, David A Hume, Allison R Pettit
Macrophage and osteoclast proliferation, differentiation and survival are regulated by colony-stimulating factor-1 receptor (CSF1R) signaling. Osteopetrosis associated with Csf1 and Csf1r mutations has been attributed to the loss of osteoclasts and deficiency in bone resorption. Here we demonstrate that homozygous Csf1r mutation in rat leads to delayed postnatal skeletal ossification associated with substantial loss of osteal macrophages (osteomacs) in addition to osteoclasts. Osteosclerosis and site-specific skeletal abnormalities were reversed by intraperitoneal transfer of wild-type bone marrow cells (BMT) at weaning...
March 25, 2024: Journal of Leukocyte Biology
https://read.qxmd.com/read/38524542/clinical-and-genetic-analysis-of-trichohepatoneurodevelopmental-syndrome-caused-by-a-ccdc47-variant
#6
JOURNAL ARTICLE
Qi Yang, Xunzhao Zhou, Yeying Ling, Qiang Zhang, Shang Yi, Qiuli Chen, Shujie Zhang, Zailong Qin, Jingsi Luo
Trichohepatoneurodevelopmental syndrome is an extremely uncommon autosomal recessive disorder resulting from variants in the CCDC47 gene, which encodes a Ca2+ -binding endoplasmic reticulum (ER) transmembrane protein. To date, only four patients with CCDC47 deficiency have been reported, all of them with homozygous truncating CCDC47 variants. For this study, a Chinese family was recruited, which included a patient diagnosed with trichohepatoneurodevelopmental syndrome. Whole exome sequencing (WES) identified the proband's novel homozygous CCDC47 variation (NM_020198: c...
March 30, 2024: Heliyon
https://read.qxmd.com/read/38523729/benign-hyperostosis-of-the-rib
#7
JOURNAL ARTICLE
Michiel Van Elsen, Filip M Vanhoenacker, Annemiek Snoeckx
Teaching point: Benign hyperostosis of the rib is a benign entity consisting of a stress phenomenon that should not be confused with Paget, fibrous dysplasia, or osteoblastic metastasis.
2024: Journal of the Belgian Society of Radiology
https://read.qxmd.com/read/38511620/a-further-case-of-chondrodysplasia-with-growth-failure-occurring-after-hematopoietic-stem-cell-transplantation-hsct
#8
K Kavanagh, J Coleman, S M O'Connell, C Ní Fhoghlú, D P Moore, C Brenner, S A Lynch
There is an emerging body of evidence showing that young patients, post haematopoietic stem cell transplantation (HSCT), can develop skeletal changes that mimic an osteochondrodysplasia process. The key discriminator is that these children have had otherwise normal growth and skeletal development before the therapeutic intervention (HSCT), typically for a haematological malignancy. Herein we present that case of a boy who underwent HSCT for Haemophagocytic Lymphohistiocytosis (HLH) aged 2 years. Following Intervention with HSCT this boy's growth has severely decelerated (stature less than 1st centile matched for age) and he has developed a spondyloepiphyseal dysplasia...
March 21, 2024: American Journal of Medical Genetics. Part A
https://read.qxmd.com/read/38501191/neonatal-ultrasound-and-radiographic-markers-of-hip-dysplasia-in-young-adults
#9
JOURNAL ARTICLE
Lene B Laborie, Hanne Rasmussen, Kaya K Jacobsen, Trude Gundersen, Karen Rosendahl
OBJECTIVES: To examine radiologic outcomes at skeletal maturity of sonographically normal, immature, mildly, and severely dysplastic newborn hips. METHODS: During 1988 to 1990, 11 925 newborns were enrolled in a randomized controlled trial examining screening strategies for developmental hip dysplasia. In total, 4469 were invited to clinical and radiologic follow-up 18 years later, of which 1735 had received neonatal ultrasound. Radiographic markers for dysplasia in left adult hips included the center-edge (CE) angle...
March 19, 2024: Pediatrics
https://read.qxmd.com/read/38494255/aggrecan-related-bone-disorders-a-novel-heterozygous-acan-variant-associated-with-spondyloepimetaphyseal-dysplasia-expanding-the-phenotypic-spectrum-and-review-of-literature
#10
JOURNAL ARTICLE
Hoda A Ahmed, R Elhossini, M Aglan, Khalda Amr
BACKGROUND: Spondyloepimetaphyseal dysplasias (SEMD) are a large group of skeletal disorders represented by abnormalities of vertebrae in addition to epiphyseal and metaphyseal areas of bones. Several genes have been identified underlying different forms. ACAN gene mutations were found to cause Aggrecan-related bone disorders (spondyloepimetaphyseal dysplasias,spondyloepiphyseal dysplasias, familial osteochondritis dissecans and short stature syndromes). This study aims to find the disease causing variant in Egyptian patient with SEMD using whole exome sequencing...
March 2024: Journal, Genetic Engineering & Biotechnology
https://read.qxmd.com/read/38494246/role-of-gene-interactions-in-the-pathophysiology-of-skeletal-dysplasias-a-case-report-in-colombia
#11
JOURNAL ARTICLE
Nathalie Yepes Madrid, Lina Johanna Moreno Giraldo
BACKGROUND: Genome association studies have shown that gene-gene interactions or epistasis play a crucial role in identifying the etiology, prognosis, and treatment response of many complex diseases beyond their main effects. Skeletal dysplasias are a heterogeneous group of congenital bone and cartilage disorders with a genetic and gen-gen interaction etiology. The current classification of skeletal dysplasias distinguishes 461 diseases in 42 groups, and the incidence of all skeletal dysplasias is more than 1 in every 5000 newborns...
March 2024: Journal, Genetic Engineering & Biotechnology
https://read.qxmd.com/read/38493069/ptip-safeguards-the-epigenetic-control-of-skeletal-stem-cell-quiescence-and-potency-in-skeletogenesis
#12
JOURNAL ARTICLE
Jianfei Liang, Jing Wang, Bingdong Sui, Yibo Tong, Jihua Chai, Qin Zhou, Chenxi Zheng, Hao Wang, Liang Kong, Haojian Zhang, Yi Bai
Stem cells remain in a quiescent state for long-term maintenance and preservation of potency; this process requires fine-tuning regulatory mechanisms. In this study, we identified the epigenetic landscape along the developmental trajectory of skeletal stem cells (SSCs) in skeletogenesis governed by a key regulator, Ptip (also known as Paxip1, Pax interaction with transcription-activation domain protein-1). Our results showed that Ptip is required for maintaining the quiescence and potency of SSCs, and loss of Ptip in type II collagen (Col2)+ progenitors causes abnormal activation and differentiation of SSCs, impaired growth plate morphogenesis, and long bone dysplasia...
February 29, 2024: Science Bulletin
https://read.qxmd.com/read/38483591/osteopetrosis-in-the-pediatric-patient-what-the-radiologist-needs-to-know
#13
JOURNAL ARTICLE
Morgan N McLuckey, Erik A Imel, Monica M Forbes-Amrhein
Osteopetrosis describes several types of rare sclerosing bone dysplasias of varying clinical and radiographic severity. The classic autosomal dominant subtype emerges most often in adolescence but can present from infancy through adulthood. The autosomal recessive osteopetrosis, or "malignant infantile osteopetrosis," presents in infancy with a grimmer prognosis, though the autosomal dominant forms (often mislabeled as "benign") actually can have life-threatening consequences as well. Often osteopetrosis is detected due to skeletal findings on radiographs performed to evaluate injury or as an incidental finding during evaluation for illness...
March 14, 2024: Pediatric Radiology
https://read.qxmd.com/read/38481529/generation-of-heterozygous-and-homozygous-nf1-lines-from-human-induced-pluripotent-stem-cells-using-crispr-cas9-to-investigate-bone-defects-associated-with-neurofibromatosis-type-1
#14
JOURNAL ARTICLE
Annabelle Darle, Thibault Mahiet, Déborah Aubin, Manon Doyen, Lina El Kassar, Béatrice Parfait, Gilles Lemaitre, Christine Baldeschi, Jennifer Allouche, Nathalie Holic
Neurofibromatosis type 1 (NF1) is one of the most common genetic disorders caused by heterozygous germline NF1 mutations. NF1 affects many systems, including the skeletal system. To date, no curative therapies are available for skeletal manifestations such as scoliosis and tibial dysplasia, mainly due to the lack of knowledge about the mechanisms that underlie this process. By using CRISPR/Cas9-mediated gene editing in human-induced pluripotent stem cells (hiPSCs) to minimize the variability due to genetic background and epigenetic factors, we generated isogenic heterozygous and homozygous NF1 -deficient hiPSC lines to investigate the consequences of neurofibromin inactivation on osteoblastic differentiation...
2024: Frontiers in Cell and Developmental Biology
https://read.qxmd.com/read/38477760/rna-based-bone-histomorphometry-method-and-its-application-to-explaining-postpubertal-bone-gain-in-a-g610c-mouse-model-of-osteogenesis-imperfecta
#15
JOURNAL ARTICLE
Elena Makareeva, Megan Sousa, Tristan Kent, Luis F de Castro, Michael T Collins, Sergey Leikin
Bone histomorphometry is a well-established approach to assessing skeletal pathology, providing a standard evaluation of the cellular components, architecture, mineralization, and growth of bone tissue. However, it depends in part on the subjective interpretation of cellular morphology by an expert, which introduces bias. In addition, diseases like osteogenesis imperfecta (OI) and fibrous dysplasia are accompanied by changes in the morphology and function of skeletal tissue and cells, hindering consistent evaluation of some morphometric parameters and interpretation of the results...
January 4, 2024: Journal of Bone and Mineral Research
https://read.qxmd.com/read/38470978/spinal-manifestations-of-skeletal-dysplasia-a-practical-guide-for-clinical-diagnosis
#16
JOURNAL ARTICLE
Tyler A Tetreault, Lindsay M Andras, Vernon T Tolo
Skeletal dysplasias are a group of genetic conditions defined by atypical bone or cartilage growth and development. Skeletal abnormalities include short stature, limb deformity, joint contracture, and spinal deformity. Over 90% of disorders have a known genetic mutation that can definitively determine the diagnosis. As patients may present with a primary spinal concern, a careful clinical and radiographic evaluation can allow the physician to develop a working diagnosis to guide additional evaluation. Spinal manifestations include scoliosis and kyphoscoliosis, cervical instability, cervical kyphosis, thoracolumbar kyphosis, spinal stenosis, and atypical vertebral body morphology...
March 12, 2024: Journal of the American Academy of Orthopaedic Surgeons
https://read.qxmd.com/read/38470820/a-case-report-of-craniofacial-intraosseous-xanthoma-in-a-patient-seeking-facial-feminization-surgery
#17
JOURNAL ARTICLE
Nghiem Nguyen, James Lee, Yuan Liu
BACKGROUND: Fibrous dysplasia (FD) is a benign developmental disorder of the bone that causes normal skeletal tissue to be replaced by excess fibrous tissue and poorly differentiated osteoblasts. Intraosseous xanthomas are benign intraosseous tumor growths characterized microscopically by the presence of lipid-laden foamy histiocytes, often with cortical expansion or disruption. Although FD commonly occurs in craniofacial bones, primary intraosseous xanthomas of the skull or facial skeleton are extremely rare...
February 27, 2024: Annals of Plastic Surgery
https://read.qxmd.com/read/38467164/acquired-forms-of-fibroblast-growth-factor-23-related-hypophosphatemic-osteomalacia
#18
JOURNAL ARTICLE
Nobuaki Ito, Naoko Hidaka, Hajime Kato
Fibroblast growth factor 23 (FGF23) is a pivotal humoral factor for the regulation of serum phosphate levels and was first identified in patients with autosomal dominant hypophosphatemic rickets and tumor-induced osteomalacia (TIO), the most common form of acquired FGF23-related hypophosphatemic rickets/osteomalacia (FGF23rHR). After the identification of FGF23, many other inherited and acquired forms of FGF23rHR were reported. In this review article, the detailed features of each acquired FGF23rHR are discussed, including TIO, ectopic FGF23 syndrome with malignancy, fibrous dysplasia/McCune-Albright syndrome, Schimmelpenning- Feuerstein-Mims syndrome/cutaneous skeletal hypophosphatemia syndrome, intravenous iron preparation-induced FGF23rHR, alcohol consumption-induced FGF23rHR, and post-kidney transplantation hypophosphatemia...
March 11, 2024: Endocrinology and Metabolism
https://read.qxmd.com/read/38458756/pathogenic-variants-affecting-the-tb5-domain-of-the-fibrillin-1-protein-not-only-in-geleophysic-acromicric-dysplasias-but-also-in-marfan-syndrome
#19
JOURNAL ARTICLE
Pauline Arnaud, Zakaria Mougin, Genevieve Baujat, Valérie Drouin-Garraud, Salima El Chehadeh, Laurent Gouya, Sylvie Odent, Guillaume Jondeau, Catherine Boileau, Nadine Hanna, Carine Le Goff
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 FBN1 pathogenic variants identified in MFS are located all along the gene and lead to the same final pathogenic sequence. Conversely, in GPHYSD/ACMICD, the 28 known heterozygous FBN1 pathogenic variants all affect exons 41-42 encoding TGFβ-binding protein-like domain 5 (TB5)...
March 8, 2024: Journal of Medical Genetics
https://read.qxmd.com/read/38457053/health-related-quality-of-life-and-associated-risk-factors-in-patients-with-multiple-osteochondromas-a-cross-sectional-study
#20
JOURNAL ARTICLE
Manila Boarini, Morena Tremosini, Alessia Di Cecco, Maria Gnoli, Evelise Brizola, Marina Mordenti, Elena Pedrini, Manuela Locatelli, Marcella Lanza, Diego Antonioli, Giovanni Gallone, Gino Rocca, Eric L Staals, Giovanni Trisolino, Luca Sangiorgi
PURPOSE: To evaluate the health-related quality of life and associated risk factors for Multiple Osteochondromas patients. METHODS: A cross-sectional, observational study was conducted from May to December 2022 during the routine visit to the referral center for rare skeletal disorders. All patients with Multiple Osteochondromas aged ≥ 3 years were included. EuroQol 5-dimension questionnaires, and demographic, clinical, and surgical history data were collected...
March 8, 2024: Quality of Life Research
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