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JOURNAL ARTICLE
Gretchen MacCarrick, Swaroop Aradhya, Mitch Bailey, Dorna Chu, Abigail Hunt, Emanuela Izzo, Deborah Krakow, William Mackenzie, Sarah Poll, Cathleen Raggio, Renée Shediac, Klane K White, Heather M McLaughlin, Guillermo Seratti
Molecular genetics enables more precise diagnoses of skeletal dysplasia and other skeletal disorders (SDs). We investigated the clinical utility of multigene panel testing for 5011 unrelated individuals with SD in the United States (December 2019-April 2022). Median (range) age was 8 (0-90) years, 70.5% had short stature and/or disproportionate growth, 27.4% had a positive molecular diagnosis (MDx), and 30 individuals received two MDx. Genes most commonly contributing to MDx were FGFR3 (16.9%), ALPL (13.0%), and COL1A1 (10...
May 3, 2024: American Journal of Medical Genetics. Part A
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JOURNAL ARTICLE
Swati Singh, Sheela Nampoothiri, Dhanya Lakshmi Narayanan, Chakshu Chaudhry, Sandesh Salvankar, Katta M Girisha
Orofaciodigital syndrome is a distinctive subtype of skeletal ciliopathies. Disease-causing variants in the genes encoding the CPLANE complex result in a wide variety of skeletal dysplasia with disturbed ciliary functions. The phenotypic spectrum includes orofaciodigital syndrome and short rib polydactyly syndrome. FUZ, as a part of the CPLANE complex, is involved in intraflagellar vesicular trafficking within primary cilia. Previously, the variants, c.98_111+9del and c.851G>T in FUZ were identified in two individuals with a skeletal ciliopathy, manifesting digital anomalies (polydactyly, syndactyly), orofacial cleft, short ribs and cardiac defects...
May 3, 2024: European Journal of Human Genetics: EJHG
#3
JOURNAL ARTICLE
Wiebke K Guder, Nina M Engel, Arne Streitbürger, Christina Polan, Marcel Dudda, Lars E Podleska, Markus Nottrott, Jendrik Hardes
INTRODUCTION: Megaendoprosthetic reconstruction of bone defects in skeletally immature patients has led to the development of unique complications and secondary deformities not observed in adult patient cohorts. With an increasing number of megaendoprosthetic replacements performed, orthopedic oncologists still gain experience in the incidence and type of secondary deformities caused. In this study, we report the incidence, probable cause and management outcome of two secondary deformities after megaendoprosthetic reconstruction of the proximal femur: hip dysplasia and genu valgum...
May 3, 2024: Archives of Orthopaedic and Trauma Surgery
#4
JOURNAL ARTICLE
Prasidhee Vijayakumar, Paul A Dawson
Circulating sulfate needs to be maintained at sufficiently high levels for healthy growth and development. Animal studies have shown the adverse physiological consequences of low circulating sulfate level on the skeletal, neurological and reproductive systems. However, sulfate is not routinely measured in clinical investigations, despite the importance of sulfate being documented over the past several decades. Several methods have been developed for measuring serum and plasma sulfate level in animals and humans, including a range of barium sulfate precipitation techniques that have been a major focus of sulfate analytics since the 1960s...
May 3, 2024: Essays in Biochemistry
#5
JOURNAL ARTICLE
Yi Lv, Qian Wang, Chensheng Lin, Xi Zheng, Yanding Zhang, Xuefeng Hu
The pivotal role of FGF18 in the regulation of craniofacial and skeletal development has been well established. Previous studies have demonstrated that mice with deficiency in Fgf18 exhibit severe craniofacial dysplasia. Recent clinical reports have revealed that the duplication of chromosome 5q32-35.3, which encompasses the Fgf18 gene, can lead to cranial bone dysplasia and congenital craniosynostosis, implicating the consequence of possible overdosed FGF18 signaling. This study aimed to test the effects of augmented FGF18 signaling by specifically overexpressing the Fgf18 gene in cranial neural crest cells using the Wnt1-Cre;pMes-Fgf18 mouse model...
2024: Frontiers in Cell and Developmental Biology
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JOURNAL ARTICLE
Héctor Castillo, Patricia Hanna, Laurent M Sachs, Nicolas Buisine, Francisco Godoy, Clément Gilbert, Felipe Aguilera, David Muñoz, Catherine Boisvert, Mélanie Debiais-Thibaud, Jing Wan, Salvatore Spicuglia, Sylvain Marcellini
While understanding the genetic underpinnings of osteogenesis has far-reaching implications for skeletal diseases and evolution, a comprehensive characterization of the osteoblastic regulatory landscape in non-mammalian vertebrates is still lacking. Here, we compared the ATAC-Seq profile of Xenopus tropicalis (Xt) osteoblasts to a variety of non mineralizing control tissues, and identified osteoblast-specific nucleosome free regions (NFRs) at 527 promoters and 6747 distal regions. Sequence analyses, Gene Ontology, RNA-Seq and ChIP-Seq against four key histone marks confirmed that the distal regions correspond to bona fide osteogenic transcriptional enhancers exhibiting a shared regulatory logic with mammals...
April 29, 2024: Cells & development
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JOURNAL ARTICLE
Giulia Consiglieri, Francesca Tucci, Maurizio De Pellegrin, Barbara Guerrini, Alessandro Cattoni, Giulia Risca, Stefano Scarparo, Marina Sarzana, Silvia Pontesilli, Renata Mellone, Serena Gasperini, Stefania Galimberti, Paolo Silvani, Chiara Filisetti, Silvia Darin, Giulia Forni, Simona Miglietta, Ludovica Santi, Marcella Facchini, Ambra Corti, Francesca Fumagalli, Maria Pia Cicalese, Valeria Calbi, Maddalena Migliavacca, Federica Barzaghi, Francesca Ferrua, Vera Gallo, Salvatore Recupero, Daniele Canarutto, Matteo Doglio, Lucia Tedesco, Nicola Volpi, Attilio Rovelli, Giancarlo la Marca, Maria Grazia Valsecchi, Stefano Zancan, Fabio Ciceri, Luigi Naldini, Cristina Baldoli, Rossella Parini, Bernhard Gentner, Alessandro Aiuti, Maria Ester Bernardo
Mucopolysaccharidosis type I Hurler (MPSIH) is characterized by severe and progressive skeletal dysplasia that is not fully addressed by allogeneic hematopoietic stem cell transplantation (HSCT). Autologous hematopoietic stem progenitor cell-gene therapy (HSPC-GT) provides superior metabolic correction in patients with MPSIH compared with HSCT; however, its ability to affect skeletal manifestations is unknown. Eight patients with MPSIH (mean age at treatment: 1.9 years) received lentiviral-based HSPC-GT in a phase 1/2 clinical trial (NCT03488394)...
May 2024: Science Translational Medicine
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JOURNAL ARTICLE
Ebru Akleyin, Yasemin Yavuz, Ahmet Yardımeden
Background and Objectives : Ectodermal dysplasia (ED)-a genetic disorder-is characterized by severe tooth deficiency. We compared the mandibular volume and the sagittal and horizontal mandibular widths between patients with ED (ED group) and individuals without tooth deficiency (control group) using three-dimensional modeling. We hypothesized that the mandibular volume differs in ED cases owing to congenital tooth deficiency. Materials and Methods : We used previously obtained cone-beam computed tomography (CBCT) images of 13 patients with ED...
March 24, 2024: Medicina
#9
Liliana M Almeida, Leonor Pereira Lima, Nuno A S Oliveira, Rui F O Silva, Bruno Sousa, José Bessa, Brígida R Pinho, Jorge M A Oliveira
Wolcott-Rallison Syndrome (WRS) is the most common cause of permanent neonatal diabetes mellitus among consanguineous families. The diabetes associated with WRS is non-autoimmune, insulin-requiring and associated with skeletal dysplasia and growth retardation. The therapeutic options for WRS patients rely on permanent insulin pumping or on invasive transplants of liver and pancreas. WRS has a well identified genetic cause: loss-of-function mutations in the gene coding for an endoplasmic reticulum kinase named PERK (protein kinase R-like ER kinase)...
April 20, 2024: bioRxiv
#10
REVIEW
Diego Agustín Abelleyra Lastoria, Katie Hutchinson, Thabia Tapadar, Salwa Ahmad, Toby Smith, Nicolas Nicolaou, Caroline Blanca Hing
BACKGROUND: Children and adolescents have the highest incidence of patellar instability among the population. We aimed to identify patho-morphological and epidemiological factors associated with patellar instability, and to identify factors predisposing to recurrence in children and adolescents. METHODS: Published and unpublished literature databases, conference proceedings and the reference lists of included studies were searched to the 14th of March 2024. Studies were eligible if they compared history characteristics, examination features and radiological parameters between patients with and without instability, or evaluated risk factors for instability recurrence...
April 23, 2024: Knee
#11
Sean M Fisher, Zachary Borab, Jeffrey A Fearon, Rod J Rohrich
Fibrous dysplasia is a benign fibro-osseous process affecting the skeletal system, with resulting cystic and fibrous tissue expansion. Craniofacial fibrous dysplasia represents a small subset of monostotic disease, accounting for approximately 10%-25% of all such cases. Involvement of the frontal, temporal, and sphenoid bones has most commonly been described, with a limited number of reported cases citing disease isolated to the nasal bones. The case reported here is differentiated by the degree of expansion of the bilateral nasal bones and the required clinical management of the bony vault in the setting of gross nasal asymmetry...
April 2024: Plastic and Reconstructive Surgery. Global Open
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JOURNAL ARTICLE
Aohan Hou, Xinyu Liu, Limei Sun, Xiaoyan Ding
BACKGROUND: Among sex chromosome aneuploidies, 48, XXYY syndrome is a rare variant. This condition is marked by the existence of an additional X and Y chromosome in males, leading to a diverse range of physical, neurocognitive, behavioral, and psychological manifestations. Typical characteristics include a tall stature and infertility. Other phenotypes include congenital heart defects, skeletal anomalies, tremors, obesity, as well as the potential for type 2 diabetes and/or peripheral vascular disease...
April 23, 2024: BMC Ophthalmology
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JOURNAL ARTICLE
Gabrielle Marchelli, Candelaria Mercado, Corey S Gill, Harry K W Kim
AIMS: Legg-Calve-Perthes disease (LCPD) is a diagnosis of exclusion. Various conditions, such as skeletal dysplasias, can closely mimic LCPD and these must be ruled out to provide appropriate treatment, prognosis, and counseling. Traditionally, genetic testing has not been readily available in pediatric orthopaedic practice. Furthermore, the clinical value of genetic testing patients with LCPD is unclear. With the advance of next-generation sequencing (NGS) technology, genetic testing has become clinically available as a lab test...
April 23, 2024: Journal of Pediatric Orthopedics
#14
Pelin Özlem Şimşek-Kiper, Beren Karaosmanoğlu, Ekim Zihni Taşkıran, Özlem Boybeyi Türer, Gülen Eda Utine, Tutku Soyer
Skeletal ciliopathies constitute a subgroup of ciliopathies characterized by various skeletal anomalies arising from mutations in genes impacting cilia, ciliogenesis, intraflagellar transport process, or various signaling pathways. Short-rib thoracic dysplasias, previously known as Jeune asphyxiating thoracic dysplasia (ATD), stand out as the most prevalent and prototypical form of skeletal ciliopathies, often associated with semilethality. Recently, pathogenic variants in GRK2, a subfamily of mammalian G protein-coupled receptor kinases, have been identified as one of the underlying causes of Jeune ATD...
April 22, 2024: American Journal of Medical Genetics. Part A
#15
REVIEW
Roufaida Bouchenafa, Francesca Manuela de Sousa Brito, Katarzyna Anna Pirog
Skeletal dysplasias are group of rare genetic diseases resulting from mutations in genes encoding structural proteins of the cartilage extracellular matrix (ECM), signaling molecules, transcription factors, epigenetic modifiers, and several intracellular proteins. Cell division, organelle maintenance, and intracellular transport are all orchestrated by the cytoskeleton associated proteins, and intracellular processes effected through microtubule-associated movement are important for the function of skeletal cells...
April 22, 2024: American Journal of Physiology. Cell Physiology
#16
JOURNAL ARTICLE
Yaokai Lu, Wei Lan, Qiangchu Wu, Yi Fu, Shengyuan Lan, Xixiong Wang, Xuwei Huang, Lu Ye
BACKGROUND: Desmoplastic fibroma is an extremely rare primary bone tumor. Its characteristic features include bone destruction accompanied by the formation of soft tissue masses. This condition predominantly affects individuals under the age of 30. Since its histology is similar to desmoid-type fibromatosis, an accurate diagnosis before operation is difficult. Desmoplastic fibroma is resistant to chemotherapy, and the efficacy of radiotherapy is uncertain. Surgical excision is preferred for treatment, but it entails high recurrence...
April 20, 2024: BMC Musculoskeletal Disorders
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JOURNAL ARTICLE
Emil den Bakker, Desiree E C Smith, Martijn J J Finken, Mirjam M C Wamelink, Gajja S Salomons, Jiddeke M van de Kamp, Arend Bökenkamp
Sulfate is an important anion as sulfonation is essential in modulation of several compounds, such as exogens, polysaccharide chains of proteoglycans, cholesterol or cholesterol derivatives and tyrosine residues of several proteins. Sulfonation requires the presence of both the sulfate donor 3'-phosphoadenosine-5'-phosphosulfate (PAPS) and a sulfotransferase. Genetic disorders affecting sulfonation, associated with skeletal abnormalities, impaired neurological development and endocrinopathies, demonstrate the importance of sulfate...
April 19, 2024: Essays in Biochemistry
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JOURNAL ARTICLE
Shiho Nagayama, Hironori Takahashi, Fuyuki Hasegawa, Asuka Hori, Sho Kizami, Rieko Furukawa, Kenji Horie, Manabu Ogoyama, Kenichiro Hata, Hiroyuki Fujiwara
A 27-year-old multiparous woman conceived her fetus naturally. Early second-trimester ultrasound showed short extremities with systemic subcutaneous edema. The pregnancy was artificially terminated at 19 weeks of gestation because of the abnormalities based on the parents' wishes. The parents desired whole-exome sequencing to detect a causative gene using the umbilical cord and the parents' saliva. Compound heterozygous variants (NC_000003.11(NM_052989.3):c.230 T > G/NC_000003...
April 18, 2024: Congenital Anomalies
#19
Fu Chen, Junjia Wang, Yanan Sun, Jiali Zhang
Rhabdomyosarcoma with TFCP2-related fusions (TFCP2-RMS) is a rare entity that commonly affects young adults with a predilection for skeletal involvement. We herein report a 40-year-old female patient with TFCP2-RMS who was misdiagnosed as fibrous dysplasia or low-grade central osteosarcoma of the mandible by referring institutions. Histologically, the tumor showed dominant spindle cells and focal epithelioid cells with marked immature woven bone formation. Immunophenotypically, in addition to the characteristic expression of myogenic markers, ALK, and cytokeratins, tumor cells also unusually expressed osteogenic markers, such as MDM2 and SATB2...
January 11, 2024: Oral Surgery, Oral Medicine, Oral Pathology and Oral Radiology
#20
Deepali Bhalla, Sunil Sati, Donald Basel, Vijender Karody
Stüve-Wiedemann syndrome (SWS) is a rare autosomal recessive disorder that is characterized by bowing of long bones, dysautonomia, temperature dysregulation, swallowing and feeding difficulties, and frequent respiratory infections. Respiratory distress and hyperthermic events are the leading causes of early neonatal death, and most patients are not expected to survive past infancy. Here, we report on the survival of a 5-year-old male with SWS, discussing his case presentation, providing a brief clinical course, and discussing the outcome...
2024: Frontiers in Pediatrics
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