keyword
https://read.qxmd.com/read/38444701/unique-quinoline-orientations-shape-the-modified-aptamer-to-sclerostin-for-enhanced-binding-affinity-and-bone-anabolic-potential
#21
JOURNAL ARTICLE
Amu Gubu, Yuan Ma, Sifan Yu, Huarui Zhang, Zefeng Chen, Shuaijian Ni, Razack Abdullah, Huan Xiao, Yihao Zhang, Hong Dai, Hang Luo, Yuanyuan Yu, Luyao Wang, Hewen Jiang, Ning Zhang, Yuan Tian, Haitian Li, Aiping Lu, Baoting Zhang, Ge Zhang
Osteogenesis imperfecta (OI) is a rare genetic disease characterized by bone fragility and bone formation. Sclerostin could negatively regulate bone formation by antagonizing the Wnt signal pathway, whereas it imposes severe cardiac ischemic events in clinic. Our team has screened an aptamer that could promote bone anabolic potential without cardiovascular risk. However, the affinity of the aptamer is lower and needs to be improved. In the study, hydrophobic quinoline molecule with unique orientations (seven subtypes) were incorporated into key sites of a bone anabolic aptamer against sclerostin to form a modified aptamer library...
March 12, 2024: Molecular Therapy. Nucleic Acids
https://read.qxmd.com/read/38437764/type-1-collagen-synthesis-structure-and-key-functions-in-bone-mineralization
#22
REVIEW
Vimalraj Selvaraj, Saravanan Sekaran, Anuradha Dhanasekaran, Sudha Warrier
Collagen is a highly abundant protein in the extracellular matrix of humans and mammals, and it plays a critical role in maintaining the body's structural integrity. Type I collagen is the most prevalent collagen type and is essential for the structural integrity of various tissues. It is present in nearly all connective tissues and is the main constituent of the interstitial matrix. Mutations that affect collagen fiber formation, structure, and function can result in various bone pathologies, underscoring the significance of collagen in sustaining healthy bone tissue...
February 28, 2024: Differentiation; Research in Biological Diversity
https://read.qxmd.com/read/38429777/short-term-effects-of-mediterranean-diet-on-nutritional-status-in-adults-affected-by-osteogenesis-imperfecta-a-pilot-study
#23
JOURNAL ARTICLE
Ramona De Amicis, Simona Bertoli, Amalia Bruno, Giulia De Carlo, Alberto Battezzati, Andrea Foppiani, Alessandro Leone, Antonella Lo Mauro
BACKGROUND: Osteogenesis Imperfecta (OI) is a heterogeneous group of connective tissue disorders, characterized by varying degrees of skeletal fragility. Patients experience a range of comorbidities, such as obesity, cardiovascular, and gastrointestinal complications, especially in adulthood. All aspects that could benefit from dietary intervention. The aim of this study was to evaluate the effects of a 6-months restricted Mediterranean Diet (rMD) on nutritional status in adult patients affected by OI...
March 1, 2024: Orphanet Journal of Rare Diseases
https://read.qxmd.com/read/38419730/physiological-cell-bioprinting-density-in-human-bone-derived-cell-laden-scaffolds-enhances-matrix-mineralization-rate-and-stiffness-under-dynamic-loading
#24
JOURNAL ARTICLE
Anke M de Leeuw, Reto Graf, Pei Jin Lim, Jianhua Zhang, Gian Nutal Schädli, Sheila Peterhans, Marianne Rohrbach, Cecilia Giunta, Matthias Rüger, Marina Rubert, Ralph Müller
Human organotypic bone models are an emerging technology that replicate bone physiology and mechanobiology for comprehensive in vitro experimentation over prolonged periods of time. Recently, we introduced a mineralized bone model based on 3D bioprinted cell-laden alginate-gelatin-graphene oxide hydrogels cultured under dynamic loading using commercially available human mesenchymal stem cells. In the present study, we created cell-laden scaffolds from primary human osteoblasts isolated from surgical waste material and investigated the effects of a previously reported optimal cell printing density (5 × 106 cells/mL bioink) vs...
2024: Frontiers in Bioengineering and Biotechnology
https://read.qxmd.com/read/38398378/new-perspectives-of-therapies-in-osteogenesis-imperfecta-a-literature-review
#25
REVIEW
Alexandru Dinulescu, Alexandru-Sorin Păsărică, Mădălina Carp, Andrei Dușcă, Irina Dijmărescu, Mirela Luminița Pavelescu, Daniela Păcurar, Alexandru Ulici
(1) Background: Osteogenesis imperfecta (OI) is a rare skeletal dysplasia characterized as a heterogeneous disorder group with well-defined phenotypic and genetic features that share uncommon bone fragility. The current treatment options, medical and orthopedic, are limited and not efficient enough to improve the low bone density, bone fragility, growth, and mobility of the affected individuals, creating the need for alternative therapeutic agents. (2) Methods: We searched the medical database to find papers regarding treatments for OI other than conventional ones...
February 13, 2024: Journal of Clinical Medicine
https://read.qxmd.com/read/38396299/the-impact-of-craniofacial-and-dental-osteogenesis-imperfecta-manifestations-on-oral-health-related-quality-of-life-of-children-and-adolescents
#26
JOURNAL ARTICLE
Leticia L Quirino Pantoja, Mariana Candida Vaz Carvalho, Paulo Marcio Yamaguti, Luiz Claudio Castro, Lilian Marly Paula, Ana Carolina Acevedo
OBJECTIVE: Craniofacial and oral manifestations of Osteogenesis Imperfecta (OI) can affect the functioning of the stomatognathic system and impact the patient's quality of life. The objective of the study was to evaluate the relationship between craniofacial and oral manifestations and the Oral Health-related Quality of Life (OHRQoL) of OI children and adolescents. MATERIAL AND METHODS: A total of 30 OI patients aged eight to fourteen years old followed up at the Oral Care Center for Inherited Diseases were enrolled in the research...
February 24, 2024: Clinical Oral Investigations
https://read.qxmd.com/read/38387013/epidemiological-assessment-of-a-pediatric-palliative-care-clinic-at-a-brazilian-quaternary-hospital-20-years-of-experience
#27
JOURNAL ARTICLE
Gustavo Marquezani Spolador, Fernanda Bastos, Rita Tiziana Verardo Polastrini, Ivete Zoboli, Ana Cristina Henrique, Joaquim Pinheiro Vieira Filho, Mariana Ribeiro Marcondes da Silveira, Elaine Freitas, Andréa Gislene do Nascimento, Silvia Maria de Macedo Barbosa
Background: The pediatric palliative care (PPC) sets up an interdisciplinary approach of chronic complex diseases throughout birth to adolescence. It encompasses countless contrasts in development and diagnosis scopes, which make this area a challenge to nonpediatric practitioners. Objective: We sought to assess the most prevalent diseases in follow-up of the PPC team. Methods: We analyzed the medical records of PPC clinic during the years 2001 and 2021 and the diagnosis of outpatients. We established a parallel with the world scientific literature concerning the epidemiology of PPC...
February 22, 2024: Journal of Palliative Medicine
https://read.qxmd.com/read/38386087/surgical-treatment-of-osteogenesis-imperfecta-a-summary-of-the-incidence-of-femoral-implant-related-complications-in-children-with-sillence-type-i-iii-and-iv
#28
JOURNAL ARTICLE
Bo Li, Hongjiang Yang, Wenbiao Zhu, Shijie Gao, Cong Xing, Shibo Zhu, Hao Li, Hao Zhong, Yang Xiong, Xiuzhi Ren, Guangzhi Ning
PURPOSE: This study explored the incidence of IRCs used in the procedures of the femur in children with osteogenesis imperfecta (OI) and investigated the independent risk factors of IRCs. METHODS: Three hundred eight-eight cases of surgical data about children with OI were included, who were treated with plate, elastic nail, Kirschner wire and telescopic rod. The choice of different procedures depended on the age of children, the status of femur and the availability of devices...
February 22, 2024: International Orthopaedics
https://read.qxmd.com/read/38379122/identification-of-a-family-with-van-der-hoeve-s-syndrome-harboring-a-novel-col1a1-mutation-and-generation-of-patient-derived-ipsc-lines-and-crispr-cas9-corrected-isogenic-ipscs
#29
JOURNAL ARTICLE
SiJun Li, Lingyun Mei, Chufeng He, Xinzhang Cai, Hong Wu, XueWen Wu, Yalan Liu, Yong Feng, Jian Song
Van der Hoeve's syndrome, also known as osteogenesis imperfecta (OI), is a genetic connective tissue disorder characterized by fragile, fracture-prone bone and hearing loss. The disease is caused by a gene mutation in one of the two type I collagen genes COL1A1 or COL1A2. In this study, we identified a novel frameshift mutation of the COL1A1 gene (c.1607delG) in a family with OI using whole-exome sequencing, bioinformatics analysis and Sanger sequencing. This mutation may lead to the deletion of a portion of exon 23 and the generation of a premature stop codon in the COL1A1 gene...
February 20, 2024: Human Cell
https://read.qxmd.com/read/38369057/imaging-in-osteogenesis-imperfecta-where-we-are-and-where-we-are-going
#30
JOURNAL ARTICLE
Silvia Gazzotti, Rebecca Sassi, Maria Pilar Aparisi Gómez, Alice Moroni, Evelise Brizola, Marco Miceli, Alberto Bazzocchi
Osteogenesis imperfecta (OI) is a rare phenotypically and genetically heterogeneous group of inherited skeletal dysplasias. The hallmark features of OI include bone fragility and susceptibility to fractures, bone deformity, and diminished growth, along with a plethora of associated secondary features (both skeletal and extraskeletal). The diagnosis of OI is currently made on clinical grounds and may be confirmed by genetic testing. However, imaging remains pivotal in the evaluation of this disease. The aim of this article is to review the current role played by the various radiologic techniques in the diagnosis and monitoring of OI in the postnatal setting as well as to discuss recent advances and future perspectives in OI imaging...
February 16, 2024: European Journal of Medical Genetics
https://read.qxmd.com/read/38347577/bleeding-assessment-in-a-large-cohort-of-patients-with-osteogenesis-imperfecta
#31
JOURNAL ARTICLE
Koert Gooijer, Gabriëla Heidsieck, Arjan Harsevoort, Daniëlle Bout, Guus Janus, Anton Franken
BACKGROUND: Osteogenesis Imperfecta (OI) is characterised by bone fragility. Among several features, easy bruising and multiple case reports on haemorrhagic events have been reported. This paper describes the diverse manifestations of bleeding and bruising in a large cohort of 328 OI patients. The aim of this study is to provide insight in the diverse aspects and therapeutic considerations of bleedings in OI. METHODS: This descriptive cohort study was conducted at the National Expert Center for adults with OI in the Netherlands...
February 12, 2024: Orphanet Journal of Rare Diseases
https://read.qxmd.com/read/38346409/association-of-antenatal-evaluations-with-postmortem-and-genetic-findings-in-the-series-of-fetal-osteogenesis-imperfecta
#32
JOURNAL ARTICLE
Leyli Senturk, Cagri Gulec, Tugba Sarac Sivrikoz, Hulya Kayserili, Ibrahim Halil Kalelioglu, Sahin Avci, Recep Has, Paul Coucke, Tugba Kalayci, Bernd Wollnik, Birsen Karaman, Guven Toksoy, Sofie Symoens, Gokhan Yigit, Atil Yuksel, Seher Basaran, Beyhan Tuysuz, Umut Altunoglu, Zehra Oya Uyguner
INTRODUCTION: Counseling Osteogenesis Imperfecta (OI) pregnancies is challenging due to the wide range of onsets and clinical severities, from perinatal lethality to milder forms detected later in life. METHODS: Thirty-eight individuals from 36 families were diagnosed with OI through prenatal ultrasonography and/or postmortem clinical and radiographic findings. Genetic analysis was conducted on 26 genes associated with OI in these subjects that emerged over the past 20 years, while some genes were examined progressively, all 26 genes were examined in the group where no pathogenic variations were detected...
February 12, 2024: Fetal Diagnosis and Therapy
https://read.qxmd.com/read/38318594/quadratus-lumborum-block-for-ovarian-cystectomy-surgery-in-a-patient-with-severe-kyphoscoliosis
#33
Zhi Yuen Beh, Chuang Shin Mok, Woon Lai Lim, Hing Wa Yip, Pui San Loh, Mohd Afiq Syahmi Ramli, Siti Zawiah Omar
Quadratus lumborum block (QLB) has been described as a regional analgesic technique in various abdominal surgeries. We present a case report of a high-risk patient who underwent ovarian cystectomy with QLB and deep sedation after failed neuraxial anesthesia. A 29-year-old female patient with comorbidities osteogenesis imperfecta, severe kyphoscoliosis with restrictive lung disease, and cervical syringomyelia with cranio-cervical junction stenosis (C2/C3). The patient had large ovarian cysts with associated dyspnea...
January 2024: Curēus
https://read.qxmd.com/read/38315213/preclinical-rodent-models-for-human-bone-disease-including-a-focus-on-cortical-bone
#34
JOURNAL ARTICLE
Natalie Yy Koh, Justyna J Miszkiewicz, Mary Louise Fac, Natalie Ky Wee, Natalie A Sims
Preclinical models (typically the ovariectomized rat and genetically altered mice) have underpinned much of what we know about skeletal biology. They have been pivotal for developing therapies for osteoporosis and monogenic skeletal conditions, including osteogenesis imperfecta, achondroplasia, hypophosphatasia, and craniodysplasias. Further therapeutic advances, particularly to improve cortical strength, requires improved understanding and more rigorous use and reporting. We describe here how trabecular and cortical bone structure develop, are maintained, and degenerate with ageing in mice, rats, and humans, and how cortical bone structure is changed in preclinical models of endocrine conditions (e...
February 5, 2024: Endocrine Reviews
https://read.qxmd.com/read/38311305/health-related-quality-of-life-and-fatigue-in-adult-rare-bone-disease-patients-a-cross-sectional-study-from-austria
#35
JOURNAL ARTICLE
Martina Behanova, Amadea Medibach, Judith Haschka, Daniel Kraus, Adalbert Raimann, Gabriel T Mindler, Jochen Zwerina, Roland Kocijan
OBJECTIVES: To assess physical and mental health domains of health related quality of life (HRQoL) as well as fatigue in rare bone disease (RBD) patients and to compare to patients with osteoporosis (OPO) and healthy controls (CTRL) without known bone diseases and to study associations of Fatique Severity Scale (FSS) with eight domains of HRQoL. METHODS: Monocentric, cross-sectional study carried out between 2020 and 2022 in a hospital affiliated with the Vienna Bone and Growth Center (European Reference Network Center for Rare Bone Disease) in Vienna, Austria...
April 2024: Bone
https://read.qxmd.com/read/38307777/characteristics-of-femoral-neck-fractures-in-osteogenesis-imperfecta-series-of-four-teen-consecutive-hips-in-twelve-patients
#36
JOURNAL ARTICLE
Arman Vahabi, Hüseyin Kaya, Zeynep Çağıran, Murat Celal Sözbilen, Cengizhan Kurt, Hüseyin Günay
INTRODUCTION: While long bone fractures are commonly seen in individuals with Osteogenesis Imperfecta (OI), femoral neck fractures (FNF) are exceedingly rare. There is a lack of comprehensive data regarding the etiology of FNFs, their characteristics, and the treatment protocols. Our aim was to determine the characteristics of femoral neck fractures in children with OI. MATERIALS AND METHODS: This study was conducted as retrospective series covering period of January 2011-December 2022...
January 29, 2024: Injury
https://read.qxmd.com/read/38303699/extracellular-matrix-protein-composition-dynamically-changes-during-murine-forelimb-development
#37
JOURNAL ARTICLE
Kathryn R Jacobson, Aya M Saleh, Sarah N Lipp, Chengzhe Tian, Audrey R Watson, Callan M Luetkemeyer, Alexander R Ocken, Sabrina L Spencer, Tamara L Kinzer-Ursem, Sarah Calve
The extracellular matrix (ECM) is an integral part of multicellular organisms, connecting different cell layers and tissue types. During morphogenesis and growth, tissues undergo substantial reorganization. While it is intuitive that the ECM remodels in concert, little is known regarding how matrix composition and organization change during development. Here, we quantified ECM protein dynamics in the murine forelimb during appendicular musculoskeletal morphogenesis (embryonic days 11.5-14.5) using tissue fractionation, bioorthogonal non-canonical amino acid tagging, and mass spectrometry...
February 16, 2024: IScience
https://read.qxmd.com/read/38299957/-metabolic-bone-diseases-what-s-new-in-2023
#38
JOURNAL ARTICLE
Serge Ferrari, Andrea Trombetti, Anne-Cecile Debrach, Sarah Kozycki, Ivan Padlina, Thierry Chevalley, Emmanuel Biver
The sequential effects of romosozumab and denosumab in osteoporosis are shown in real-life, while the mechanisms of post-denosumab rebound are reviewed extensively. A network meta-analysis confirms the superiority of anabolics vs anti-resorptives on fracture reduction, while the latter shown a reduction of mortality in a large population-based study. Fracture risk prediction by FRAXPlus is improved. New meta-analyses confirm the benefits of Vitamin D on fractures and falls. Finally, multiples trials with new molecules for the treatment of rare bone diseases, including osteogenesis imperfecta, fibrous dysplasia and hypoparathyroidism, shown promising results...
January 31, 2024: Revue Médicale Suisse
https://read.qxmd.com/read/38281305/psychosocial-outcomes-of-pain-and-pain-management-in-adults-with-osteogenesis-imperfecta-a-qualitative-study
#39
JOURNAL ARTICLE
Whitney S Shepherd, Andrew D Wiese, Hannah E Cho, W Conor Rork, M Usman Baig, Kristin M Kostick, Dianne Nguyen, Erin M Carter, Chaya N Murali, Marie-Eve Robinson, Sophie C Schneider, Brendan Lee, V Reid Sutton, Eric A Storch
Osteogenesis imperfecta (OI) is a genetic disorder characterized by bone fragility and fractures, short stature, dental abnormalities, hearing loss, scoliosis, and chronic pain. Despite a growing literature on the functional outcomes of OI, limited research has explicitly examined the psychosocial outcomes of pain within OI. Adults with OI (N = 15) were interviewed to understand pain-related experiences through a thematic analysis of semi-structured interview data. Research team members, genetic research experts, and OI clinicians developed an interview guide focused on topics related to pain and mental health challenges...
January 28, 2024: Journal of Clinical Psychology in Medical Settings
https://read.qxmd.com/read/38261950/aav-based-gene-editing-of-type-1-collagen-mutation-to-treat-osteogenesis-imperfecta
#40
JOURNAL ARTICLE
Yeon-Suk Yang, Tadatoshi Sato, Sachin Chaugule, Hong Ma, Jun Xie, Guangping Gao, Jae-Hyuck Shim
Osteogenesis imperfecta (OI) is a genetic disorder characterized by bone fragility, low bone mass, fractures, and extraskeletal manifestations. Since OI is commonly caused by single-nucleotide mutation(s) in the COL1A1 or COL1A2 genes encoding type I collagens, we developed a genome-editing strategy to correct a Col1a2 mutation in an OIM mouse model resembling a severe dominant form of human type III OI. Using a recombinant adeno-associated virus (rAAV), we delivered CRISPR-Cas9 to bone-forming osteoblast-lineage cells in the skeleton...
March 12, 2024: Molecular Therapy. Nucleic Acids
keyword
keyword
95793
2
3
Fetch more papers »
Fetching more papers... Fetching...
Remove bar
Read by QxMD icon Read
×

Save your favorite articles in one place with a free QxMD account.

×

Search Tips

Use Boolean operators: AND/OR

diabetic AND foot
diabetes OR diabetic

Exclude a word using the 'minus' sign

Virchow -triad

Use Parentheses

water AND (cup OR glass)

Add an asterisk (*) at end of a word to include word stems

Neuro* will search for Neurology, Neuroscientist, Neurological, and so on

Use quotes to search for an exact phrase

"primary prevention of cancer"
(heart or cardiac or cardio*) AND arrest -"American Heart Association"

We want to hear from doctors like you!

Take a second to answer a survey question.