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The evolving roles of Wnt signaling in stem cell proliferation and differentiation, the development of human diseases, and therapeutic opportunities.

The evolutionarily conserved Wnt signaling pathway plays a central role in development and adult tissue homeostasis across species. Wnt proteins are secreted, lipid-modified signaling molecules that activate the canonical (β-catenin dependent) and non-canonical (β-catenin independent) Wnt signaling pathways. Cellular behaviors such as proliferation, differentiation, maturation, and proper body-axis specification are carried out by the canonical pathway, which is the best characterized of the known Wnt signaling paths. Wnt signaling has emerged as an important factor in stem cell biology and is

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… Osteogenesis imperfecta, also known as brittle bone disease, is marked by early-onset osteoporosis, increased bone fragility, bone deformity, and short stature. … imperfecta ( Table 2 ). …

Nucleic acid aptamers in orthopedic diseases: promising therapeutic agents for bone disorders.

Precision medicine has become a cornerstone in modern therapeutic strategies, with nucleic acid aptamers emerging as pivotal tools due to their unique properties. These oligonucleotide fragments, selected through the Systematic Evolution of Ligands by Exponential Enrichment process, exhibit high affinity and specificity toward their targets, such as DNA, RNA, proteins, and other biomolecules. Nucleic acid aptamers offer significant advantages over traditional therapeutic agents, including superior biological stability, minimal immunogenicity, and the capacity for universal chemical modificatio

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… These diseases may be congenital such as achondroplasia and osteogenesis imperfecta. 223 , 224 Alternatively, these disorders may be acquired, such as diabetic bone disease, cancer-associated bone disorders, or osteoarthritis resulting from sports injuries. 225 – 227 Similar to osteoporosis, osteonosus … imperfecta Osteogenesis imperfecta (OI) is a hereditary connective tissue disorder primarily characterized by fragile bones. 487 The etiology of OI is mainly linked to genetic mutations, particularly those involving the COL1A1 or COL1A2 genes, which encode the alpha-1 and alpha-2 chains of type I collagen …

Pediatric cervical kyphosis in the MRI era (1984-2008) with long-term follow up: literature review.

OBJECTIVE: Cervical kyphosis is rare in the pediatric population. It may be syndromic or acquired secondary to laminectomy, neoplasia, or tr … hyseal dysplasia (SED) 4, spondylometaphyseal dysplasia 1, unnamed collagen abnormality syndrome 1, osteogenesis imperfecta (OI) 2, Aarskog syndrome 1, Weaver syndrome 1, Larsen syndrome 1, multiple cervical level disconnection syndrome 1, Klippel-Feil 3, congenital absence of C2 pars 4. Non-syndromic cases; 2 with neurofibromatosis (NF1) and prevertebral tumors, fibroma …

New Generation of Meso and Antiprogestins (SPRMs) into the Osteoporosis Approach.

Receptor activator of nuclear factor κB (RANK) and its ligand (RANKL) play key roles in bone metabolism and the immune system. The RANK/RANKL complex has also been shown to be critical in the formation of mammary epithelia cells. The female hormones estradiol and progesterone closely control the action of RANKL with RANK. Blood concentration of these sex hormones in the postmenopausal period leads to an increase in RANK/RANKL signaling and are a major cause of women's osteoporosis, characterized by altered bone mineralization. Knowledge of the biochemical relationships between hormones and RAN

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… Osteogenesis imperfecta (OI), otherwise known as brittle bone disease, is one of the most common primary bone fragility disorders in children and adolescents. The mutation in one of the two genes coding collagen I is the main cause of this pathology. … Decreased fracture rate, pharmacogenetics and BMD response in 79 Swedish children with osteogenesis imperfecta types I, III and IV treated with Pamidronate. Bone. 2016;87:11–18. doi: 10.1016/j.bone.2016.02.015. 84. Almazrooa S.A., Woo S.B. …

Сравнительное исследование распространенности усталости у лиц с заболеваниями: систематический обзор и мета-анализ.

Усталость является одним из наиболее распространенных симптомов у лиц с заболеваниями или нарушениями, значительно влияющих на качество жизни (КЖ) и прогноз заболеваний. Настоящее исследование направлено на всестороннее сравнение особенностей усталости в широком спектре заболеваний. Мы систематически искали данные в базах данных PubMed и Cochrane Library с момента их создания до 31 марта 2021 года и провели метаанализ для получения точных оценок. Анализы проводились по классификации заболеваний, полу и степени усталости (умеренная и тяжелая), а качество исследований оценивалось с использование

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… Osteogenesis imperfecta is a common hereditary connective tissue disorder characterized by extremely fragile bones and pain, with a prevalence of approximately 90% 28 . … Fatigue and disturbances of sleep in patients with osteogenesis imperfecta - a cross-sectional questionnaire study. BMC Musculoskelet. Disord. 19 (1), 3 (2018). 29. Molvaer, A. K. et al. …

Growth velocity, final height and bone mineral metabolism of short children treated long term with growth hormone.

Since human recombinant growth hormone (GH) became available a large number of short GH deficient and GH-sufficient children have been treat … ion and resorption markers. Recent short term studies in patients with hypophosphatemic rickets and osteogenesis imperfecta treated with rhGH have also yielded similar results which will be specified in the review. Some 10-20% of children born with intrauterine growth retardation (IUGR) end up short and we had already demonstrated 20 years ago how 2 years of GH therapy w …

Non-invasive prenatal sequencing for multiple Mendelian monogenic disorders using circulating cell-free fetal DNA.

Current non-invasive prenatal screening is targeted toward the detection of chromosomal abnormalities in the fetus1,2. However, screening for many dominant monogenic disorders associated with de novo mutations is not available, despite their relatively high incidence3. Here we report on the development and validation of, and early clinical experience with, a new approach for non-invasive prenatal sequencing for a panel of causative genes for frequent dominant monogenic diseases. Cell-free DNA (cfDNA) extracted from maternal plasma was barcoded, enriched, and then analyzed by next-generation se

Pharmacological inhibition of sclerostin protects bone from B-cell acute lymphoblastic leukemia-mediated destruction.

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… imperfecta, suggesting that promoting osteoblast function via Scl‐Ab treatment does not adversely impact bone growth. 14 Several clinical studies are also currently underway to evaluate Scl‐Ab in children and adolescents with osteogenesis imperfecta ( NCT04545554 , NCT05972551 ). … Effect of sclerostin antibody treatment in a mouse model of severe osteogenesis imperfecta . Bone . 2014 ; 66 : 182 ‐ 188 . 10.1016/j.bone.2014.06.015 24953712 15 Schepers K , Pietras EM , Reynaud D , et al. …

Modeling Rare Bone Diseases in Animals.

PURPOSE OF REVIEW: The goal of this review is to highlight some of the considerations involved in creating animal models to study rare bone diseases and then to compare and contrast approaches to creating such models, focusing on the advantages and novel opportunities offered by the CRISPR-Cas system. RECENT FINDINGS: Gene editing after creation of double-stranded breaks in chromosomal DNA is increasingly being used to modify animal genomes. Multiple tools can be used to create such breaks, with the newest ones being based on the bacterial adaptive immune system known as CRISPR/Cas. Advances

Автосоматический синдром снотворного синдрома спящей апноэ из-за нового варианта c.980_984dup в COL1A2: A Case Report.

Осложненный синдром апноэ (OSAS) — сложное расстройство, характеризующееся коллапсом верхних дыхательных путей во время сна. Хотя история семьи часто свидетельствует о наследственной предрасположенности к ОСУС, нет никаких доказательств того, что это на самом деле моногенное расстройство. До настоящего времени не было описано ни одного случая, когда пациент с наследственным OSA из-за патогенной мутации в цепи коллагенов типа I альфа-2 (COL1A2). Пациенткой была 72-летняя женщина, которая страдала бессонницей с 35 лет. С тех пор ОСУС подозревалось, но было подтверждено только в возрасте 67 лет п

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… COL1A2 mutations generally lead to weak connective tissue and to distinctive connective tissue disorders (CTDs) such as osteogenesis imperfecta (brittle bone disease), atypical Marfan syndrome, and Ehlers-Danlos syndrome (EDS) [ 6 ].  … For example, OSAS has been described in patients with Marfan syndrome, hypermobility spectrum disorders, osteogenesis imperfecta, polymyositis, systemic lupus erythematosus [ 12 ], EDS [ 13 ], and systemic sclerosis [ 14 ]. …

Knowledge, Attitude, and Management of General Dentist toward Medication-related Osteonecrosis of the Jaws.

BACKGROUND: Medication-related osteonecrosis of the jaw (MRONJ) is an intense negative drug response causing increasing bone destruction in the maxillofacial area of patients. AIMS AND OBJECTIVES: To evaluate the knowledge and attitude of dental practitioner regarding risk factors of MRONJ in Saudi Arabia. MATERIALS AND METHODS: A cross-sectional, questionnaire survey was carried out in King Khalid Hospital, Al-Kharj among dental practioners. RESULTS: Approximately 60% of the practioners had a poor knowledge and there was a weak positive correlation with work experience. CONCLUSION: Poor k

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… imperfecta, osteopenia in addition to Paget’s disease.[ 7 , 8 , 9 , 10 ] Another antiresorptive has been found known as RANK ligand inhibitor (denosumab) as class of monoclonal antibody which function to inhibit osteoclast[ 2 ] in turn reducing the resorption and improve the bone mass. … Risedronate in children with osteogenesis imperfecta: a randomised, double-blind, placebo-controlled trial. Lancet. 2013;382:1424–32. doi: 10.1016/S0140-6736(13)61091-0. 9. Ralston SH, Langston AL, Reid IR. Pathogenesis and management of Paget's disease of bone. …

Potential Targeting Mechanisms for Bone-Directed Therapies.

Bone development is characterized by complex regulation mechanisms, including signal transduction and transcription factor-related pathways, glycobiological processes, cellular interactions, transportation mechanisms, and, importantly, chemical formation resulting from hydroxyapatite. Any abnormal regulation in the bone development processes causes skeletal system-related problems. To some extent, the avascularity of cartilage and bone makes drug delivery more challenging than that of soft tissues. Recent studies have implemented many novel bone-targeting approaches to overcome drawbacks. Howe

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… Some bone-affecting diseases such as mucopolysaccharidoses (MPSs) [ 4 ], achondroplasia [ 5 ], osteogenesis imperfecta [ 6 ], thanatophoric dysplasia [ 7 ], among others, commonly lead to skeletal dysplasia. … For example, sclerostin loop3-targeting aptamer (Apc001PE) accelerated bone formation in osteogenesis imperfecta (OI) mice without any cardiovascular risk, which is superior to OI antibodies, causing a potential heart attack, stroke, and cardiovascular death [ 185 ]. …

Development of clinical utility of zoledronic acid and patient considerations in the treatment of osteoporosis.

Osteoporosis is a major health concern, which results in the increased risk of fractures. There is a high risk for the first or consecutive fractures leading to considerable morbidity and debilitating consequences if osteoporosis is untreated. Currently, bisphosphonates are the mainstay of treatment for osteoporosis though long-term persistence and adherence to bisphosphonates, especially those taken orally, remain low. This medication noncompliance has serious consequences on osteoporotic patients as it is associated with a significantly higher fracture risk. Intravenous (IV) zoledronic acid

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… The majority of subjects preferred once-yearly IV infusion of ZOL 5 mg over once-a-week oral 70 mg ALN. 48 Pediatric osteoporosis The use of bisphosphonates in children with osteogenesis imperfecta is well established. … A comparison of oral and intravenous bisphosphonate therapy for children with osteogenesis imperfecta. J Pediatr Endocrinol Metab. 2005;18(1):43–53. doi: 10.1515/jpem.2005.18.1.43. 51. Seikaly MG, Kopanati S, Salhab N, et al. …

Secondary Osteoporosis and Metabolic Bone Diseases.

Fragility fracture is a worldwide problem and a main cause of disability and impaired quality of life. It is primarily caused by osteoporosis, characterized by impaired bone quantity and or quality. Proper diagnosis of osteoporosis is essential for prevention of fragility fractures. Osteoporosis can be primary in postmenopausal women because of estrogen deficiency. Secondary forms of osteoporosis are not uncommon in both men and women. Most systemic illnesses and organ dysfunction can lead to osteoporosis. The kidney plays a crucial role in maintaining physiological bone homeostasis by control

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… The most common one is osteogenesis imperfecta (OI), also known as ‘brittle bone disease’ [ 467 ]. Osteogenesis imperfecta is a genetic connective tissue disorder caused by defective bone formation, mainly due to impaired production and/or processing of type 1 collagen [ 468 ]. …

Bone Phenotyping Approaches in Human, Mice and Zebrafish - Expert Overview of the EU Cost Action GEMSTONE ("GEnomics of MusculoSkeletal traits TranslatiOnal NEtwork").

A synoptic overview of scientific methods applied in bone and associated research fields across species has yet to be published. Experts from the EU Cost Action GEMSTONE ("GEnomics of MusculoSkeletal Traits translational Network") Working Group 2 present an overview of the routine techniques as well as clinical and research approaches employed to characterize bone phenotypes in humans and selected animal models (mice and zebrafish) of health and disease. The goal is consolidation of knowledge and a map for future research. This expert paper provides a comprehensive overview of state-of-the-art

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… In a child, family history of bone fragility, joint laxity or hearing loss gives essential clues towards the presence of genetic disorder, such as osteogenesis imperfecta. … For example, vertebral fractures may spontaneously reshape in a leukemic child if the remaining growth potential suffices but this would be highly unlikely in a child with osteogenesis imperfecta ( 58 ). …

Genetic Background of Medication-Related Osteonecrosis of the Jaw: Current Evidence and Future Perspectives.

Medication-related osteonecrosis of the jaw (MRONJ) is a rare side effect of antiresorptive drugs that significantly hinders the quality of life of affected patients. The disease develops in the presence of a combination of factors. Important pathogenetic factors include inflammation, inhibition of bone remodeling, or genetic predisposition. Since the first description of this rare side effect in 2003, a growing body of data has suggested a possible role for genetic factors in the disease. Several genes have been suggested to play an important role in the pathogenesis of MRONJ such as SIRT1, V

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… COL1A1 encodes an important part of type 1 collagen and its mutations are associated with osteogenesis imperfecta [ 75 ]. COL1A1 rs1800012 may also be associated with ligament and tendon injuries [ 76 ]. … COL1A1/2 Osteogenesis Imperfecta GeneReviews ® Adam M.P. University of Washington Seattle, WA, USA 1993 20301472 76. Wang C. Li H. Chen K. Wu B. Liu H. …

Adiponectin signalling in bone homeostasis, with age and in disease.

Adiponectin is the most abundant circulating adipokine and is primarily involved in glucose metabolism and insulin resistance. Within the bone, osteoblasts and osteoclasts express the adiponectin receptors, however, there are conflicting reports on the effects of adiponectin on bone formation and turnover. Many studies have shown a pro-osteogenic role for adiponectin in in vivo murine models and in vitro: with increased osteoblast differentiation and activity, alongside lower levels of osteoclastogenesis. However, human studies often demonstrate an inverse relationship between adiponectin conc

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… Osteopetrosis and osteogenesis imperfecta Patients with rare bone diseases, such as osteogenesis imperfecta (OI) and osteopetrosis, have unorganised bone structure and increased bone frailty, 112 which can severely reduce the quality of life of those affected. … Metabolic phenotype in the mouse model of osteogenesis imperfecta. J. Endocrinol. 2017;234:279–289. doi: 10.1530/JOE-17-0335. 114. Lacerda DR, et al. Osteopetrosis in obese female rats is site-specifically inhibited by physical training. Exp. …