A Case Report of Larsen's Syndrome, Antiphospholipid Syndrome, Diaphragmatic Hernia, and a Colon Polyp: A Hidden Association or a Mere Coincidence.

Larsen's syndrome is an exceedingly rare and debilitating skeletal disorder characterized by multiple bony deformities and joint contractures. A 47-year-old female grappled with its severe manifestations, including functional quadriplegia, limb atrophy, and various orthopedic surgeries. This is the only reported case of the concurrent presence of antiphospholipid antibody syndrome (APLA) and Larsen's syndrome.

Novel mutation in patients with microcephalic osteodysplastic primordial dwarfism type II (MOPD II).

A rare type of autosomal recessive skeletal disorder, known as microcephalic osteodysplastic primordial dwarfism (MOPD) type II, causes a wide range of clinical abnormalities, including skeletal dysplasia, microcephaly, abnormal skin pigmentation, insulin resistance, typical facial features, and severe tooth deformities. Given the diverse manifestations of MOPD disorders and the overlapping clinical characteristics among primordial dwarfism (PD) subtypes, mutation analysis is crucial for accurate diagnosis and confirmation of MOPD II. In this study, whole-exome sequencing (WES) and GAP-PCR were employed to identify relevant genetic variants in three patients suspected of having MOPD.

A rare case of late-onset spondyloenchondrodysplasia with immune dysregulation presenting as adult-onset monogenic lupus.

Background: Spondyloenchondrodysplasia is classified as an interferonopathy resulting from recessive mutations in the gene and manifests with various clinical features, including distinctive skeletal dysplasia, neurological abnormalities, immune dysfunction resembling systemic lupus erythematosus (SLE) and Sjogren's syndrome. While SLE is typically considered multifactorial and more prevalent in adulthood, a subset of approximately 10%-25% of childhood cases arise from monogenic form. Among these, spondyloenchondrodysplasia accounts for only a rare fraction of monogenic lupus cases, with only 22 reported instances in the literature.

Dental implants versus removable prostheses for the management of edentulous sites in patients with florid cemento-osseous dysplasia: A systematic review of literature with a follow-up period of at least 3 years.

Purpose: To compare the medium- and long-term efficacy of implants and removable prostheses used to manage edentulous patients with florid cemento-osseous dysplasia.

Materials And Methods: The PubMed, Web of Science and Google Scholar databases were searched from December 2022 to March 2023. Two independent reviewers completed the search using a population, intervention, comparison, outcome and time questionnaire.

Accuracy of intertrochanteric osteotomy for patients with slipped capital femoral epiphysis operated with 3D printed patient-specific guides.

Background: Slipped Capital Femoral Epiphysis (SCFE), is one of the most common hip disorders in adolescents, and is treated surgically by performing an Imhäuser osteotomy. The use of 3D printed guides has shown promise in improving the accuracy of the osteotomy. However, misplacement of the guide may limit the improvement.

Orthopedic Surgery in Osteogenesis Imperfecta in Adults.

Osteogenesis imperfecta is a genetic disorder, mainly characterized by bone fragility. In adult with osteogenesis imperfecta, surgical treatment may be indicated as an emergency procedure in the event of a fracture, or as a scheduled procedure in case of patient functional impairment due to many causes, such as persistent pain, complex bone deformities, and degenerative arthropathies. In all cases, a multidisciplinary approach is recommended.

The effect of miR-205a with RUNX2 towards proliferation and differentiation of chicken chondrocytes in thiram-induced tibial dyschondroplasia.

Tibial dyschondroplasia (TD) is a kind of metabolic bone disease in fast-growing broilers, which seriously restricts the development of poultry industry. Our previous studies have revealed a significant upregulation of miR-205a in TD cartilage tissue, suggesting its potential role as a regulatory factor in the pathogenesis of TD. However, the precise function implications and underlying regulatory mechanism remain elusive.

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Hereditary multiple exostoses is a rare congenital condition with autosomal dominant inheritance. It consists of formation of osteocartilaginous exostoses, most commonly from the metaphysis of long bones. Surgery is the main treatment as there is no available medical treatment.

Height prediction of individuals with osteogenesis imperfecta by machine learning.

Background: Osteogenesis imperfecta (OI) is a genetic disorder characterized by low bone mass, bone fragility and short stature. There is a significant gap in knowledge regarding the growth patterns across different types of OI, and the prediction of height in individuals with OI was not adequately addressed. In this study, we described the growth patterns and predicted the height of individuals with OI employing multiple machine learning (ML) models.

Trabecular bone score as an assessment tool to identify the risk of vertebral fractures in SAPHO syndrome.

Unlabelled: This is the first study to report that TBS seems not only unaffected by bone artifacts, but also is superior to BMD in the discrimination of vertebral fractures in SAPHO patients, which highlights the importance of adding TBS measurement to DXA images in routine clinical evaluation.

Purpose: To investigate the impact of bone artifacts on trabecular bone score (TBS) and lumbar spine (LS) bone mineral density (BMD) measured by dual-energy X-ray absorptiometry (DXA) and analyze the clinical utility of TBS evaluation for vertebral fracture (VF) risk assessment in SAPHO patients compared with BMD assessment.

Methods: Seventy SAPHO patients (mean age 50.

General Anesthetic Management of a Patient With Spondyloepiphyseal Dysplasia Congenita Undergoing Palatoplasty Revision.

Spondyloepiphyseal dysplasia congenita (SEDC) is a type of short-limbed dwarfism characterized by platyspondylia, delayed metaphyseal ossification, and irregularly shaped bones. Anesthetic issues in patients with SEDC have reportedly included airway stenosis caused by laryngotracheal hypoplasia, ventilation difficulty due to facial hypoplasia, and intubation difficulty attributed to microgenia. Furthermore, atlantoaxial instability can lead to cervical dislocation due to excessive or violent manipulation of the head and neck.

[Synovitis, acne, pustulosis, hyperostosis, and osteitis (SAPHO) syndrome manifested as a mass on the chest wall: a case report].

Synovitis, acne, pustulosis, hyperostosis, and osteitis (SAPHO) syndrome is a rare disorder characterized by a variety of osseous and cutaneous symptoms. We presented a case of a middle-aged female presenting with a mass on the right chest wall. Respiratory specialists were unfamiliar with the condition and were unable to make a definitive diagnosis.

Bilateral slipped capital femoral epiphysis in a cerebral palsy patient: a Case Report.

Background: Slipped capital femoral epiphysis (SCFE) is usually seen in patients with high body mass index (BMI) and endocrine diseases. SCFE is exceedingly rare among Cerebral palsy (CP) patients due to spasticity present in those patients. Percutaneous in situ fixation is the treatment option for SCFE patients.

Identification of two novel genetic variants for Ellis-van Creveld syndrome from a Chinese family through whole exome sequencing.

Objective: This study conducted genetic testing and analysis on the fetal tissue of a terminated pregnancy to clarify the cause of the fetal abnormalities.

Methods: A fetus with multiple malformations detected during mid-pregnancy was terminated. Trio whole exome sequencing (Trio-WES) was performed on the fetal tissue.

Single cell analysis of Idh mutant growth plates identifies cell populations responsible for longitudinal bone growth and enchondroma formation.

Enchondromas are a common tumor in bone that can occur as multiple lesions in enchondromatosis, which is associated with deformity of the affected bone. These lesions harbor somatic mutations in IDH and driving expression of a mutant Idh1 in Col2 expressing cells in mice causes an enchondromatosis phenotype. Here we compared growth plates from E18.

Developing Stapled Aptamers with a Constrained Conformation for Osteogenesis Imperfect Therapeutics.

Despite the extensive development of aptamers in basic research, only a limited number have successfully progressed to clinical trials. This limitation is primarily attributed to the inherent instability of aptamers' conformation, resulting in low affinity, poor serum stability, and inconsistent potency, posing a significant challenge to their stabilization. Herein, we established a feasible strategy to develop staple aptamers using the predicted binding conformations and titration cross-linking (TTC) method.

Modulation of biomineralization morphology by phosphorylated collagen peptides: insights into osteogenesis imperfecta pathophysiology.

Osteogenesis imperfecta (OI) is a hereditary skeletal disorder characterized by bone fragility and deformities, primarily attributed to defects in type I collagen, the most abundant structural protein in humans. Multiple phosphorylation sites have been detected within collagen, suggesting that phosphorylation may influence mineralization processes, thereby impacting the development of OI. In this study, we investigated the modulation of biomineralization morphology by phosphorylated collagen peptides mimicking Gly-Ser mutations in osteogenesis imperfecta.

Association of LONP1 gene with epilepsy and the sub-regional effect.

The LONP1 gene encodes Lon protease, which is responsible for degrading damaged or misfolded proteins and binding mitochondrial DNA. Previously, LONP1 variants have been identified in patients with cerebral, ocular, dental, auricular, and skeletal anomalies (CODAS syndrome) and mitochondrial diseases. Seizures were occasionally observed.

Familial osteochondrodysplastic and cardiomyopathic syndrome in Chianina cattle.

Background: Skeletal dysplasia encompasses a heterogeneous group of genetic disorders characterized by an abnormal development of bones, joints, and cartilage. Two Chianina half-sibling calves from consanguineous mating with congenital skeletal malformations and cardiac abnormalities were identified.

Hypothesis/objectives: To characterize the disease phenotype, to evaluate its genetic cause, and to determine the prevalence of the deleterious alleles in the Chianina population.

A non-lethal presentation of osteogenesis imperfecta type VIII due to homozygous mutation in gene.

A female toddler presented with short stature and hypermobility of limbs. She had sustained five long bone fractures following minor trauma since early infancy. Skeletal survey was consistent with osteogenesis imperfecta.