Focal dermal hypoplasia: a probable underrecognized low bone mass disorder secondary to aberrant Wnt signaling.

A 29-year-old Spanish Caucasian man, without relevant family history, was attended in our unit due to an undiagnosed skeletal dysplasia associated with low bone mass and several fragility fractures throughout his childhood and adolescence. DXA exams throughout his life showed very low BMD values; currently, his spinal and femoral neck T-scores were - 4.3 and - 3.

Early and multiple doses of zoledronate mitigates rebound bone loss following withdrawal of RANKL inhibition.

Rebound bone loss following denosumab discontinuation is an important barrier in the effective long-term treatment of skeletal disorders. This is driven by increased osteoclastic bone resorption following the offset of RANKL inhibition, and sequential osteoclast-directed therapy has been utilised to mitigate this. However, current sequential treatment strategies intervene following the offset of RANKL inhibition and this approach fails to consistently prevent bone loss.

Tendon Inversion Improves Tendon-to-Bone Healing in a Rat Bicep Tenodesis Model.

Purpose: Tendon-to-bone repair remains a surgical challenge. Although bone tunnel fixation is a common surgical technique whereby soft tissue is expected to heal against a bone tunnel interface, contemporary methods have yet to recapitulate biomechanical similarity to the native enthesis. In this study, we aimed to understand how inside-out longitudinal tendon inversion affects bone tunnel healing with the hypothesis that inversion removes the gliding epitenon surface to facilitate interface healing.

Delayed Sensory Exotropia With Retained Metallic Intraorbital Foreign Body.

This report describes the longest case of a retained metallic intraorbital foreign body with no complications and development of delayed sensory exotropia following traumatic sclopetaria in childhood. A 9-year-old girl suffered a BB gun injury to the left eye, leading to chorioretinitis sclopetaria and loss of vision. The visual acuity was 20/800 with a relative afferent pupillary defect and choroidal rupture with subretinal hemorrhage that evolved to sclopetaria over time.

CD209d/e promotes inflammation and lung injury during influenza virus infection.

Influenza virus infects millions each year, contributing greatly to human morbidity and mortality. Upon viral infection, pathogen-associated molecular patterns activate pattern recognition receptors on host cells, triggering an immune response. The CD209 protein family, homologs of DC-SIGN (dendritic cell-specific intercellular adhesion molecule 3-grabbing nonintegrin), is thought to modulate immune responses to viruses.

Tranexamic Acid and Heterotopic Ossification Formation Following Elbow Surgery: A Prospective Randomized Controlled Trial.

Objectives: This study investigates whether the intra-operative administration of intravenous tranexamic acid (TXA), known for its hemostatic and potential anti-inflammatory properties, affects the incidence of heterotopic ossification (HO) following surgery for elbow fracture-dislocations.

Methods: Design: Prospective, randomized clinical trial.

Setting: Hand and Upper Extremity Surgery Unit.

Finite Element Analysis of Functionally Loaded Subperiosteal Implants Evaluated on a Realistic Model Reproducing Severe Atrophic Jaws.

Implant-supported prosthetic rehabilitation for patients with severely atrophic jaws is challenging due to complex anatomical considerations and the limitations of conventional augmentation techniques. This study explores the potential of subperiosteal (juxta-osseous) implants as an alternative solution, using finite element analysis (FEA) to evaluate mechanical performance. Realistic jaw models, developed from radiographic data, are utilized to simulate various implant configurations and load scenarios.

Bone Adaptations to a Whole Body Vibration Protocol in Murine Models of Different Ages: A Preliminary Study on Structural Changes and Biomarker Evaluation.

: Whole body vibration (WBV) is a valuable tool to mitigate physiological adaptations related to age and inactivity. Although significant benefits have been found at the musculoskeletal level, including increased bone mass and reduced muscle atrophy, the underlying biological mechanisms remain largely unknown. Therefore, our study aimed to evaluate the effects of vibratory training on bone tissue in murine models of different age groups by investigating the structural and distribution changes in some crucial biomarkers involved in musculoskeletal homeostasis.

Relationship of Chronic Stress and Hypertension with Bone Resorption.

Chronic exposure to stress has been considered a risk factor for hypertension, which is also associated with increased bone resorption. This review aimed to investigate the effect of acute and chronic stress, associated with hypertension, on the skeletal system. A comprehensive search was conducted across multiple databases, focusing on peer-reviewed articles published in English.

Physical Activity and Quality of Life After Distal Femur Tumor Resection and Limb Salvage.

: Distal femur tumor resection with limb salvage is a demanding procedure that offers hope for patients by preserving the limb rather than opting for amputation. While limb salvage can improve both physical function and psychological well-being, there's limited knowledge on how active patients remain afterward and how their Quality of Life (QoL) is affected, especially regarding physical activities and sports. This study investigates the quality of life of the patients through the development of motor activity, focusing on both physical and sporting activity of the above-mentioned individuals and their physical abilities to participate in activities of daily and sporting life after surgery.

Zirconia Barriers in Bone Regeneration Procedures: A Scoping Review.

Purpose: To identify the current status and development of zirconia barriers in bone augmentation procedures in the maxillofacial area of adult human patients.

Materials And Methods: Two independent reviewers conducted an electronic literature search in PubMed/MEDLINE, Web of Science, Scopus, EBSCO, the Cochrane Library, and LILACS databases, as well as a manual search to identify eligible clinical studies up to April 15, 2024. The protocol was designed in accordance with the Preferred Reporting Items for Systematic Reviews and Meta-Analyses extension for Scoping Reviews guidelines.

Life history and growth dynamics of a peirosaurid crocodylomorph (Mesoeucrocodylia; Notosuchia) from the Late Cretaceous of Argentina inferred from its bone histology.

Notosuchia were a successful lineage of Crocodyliformes that achieved a remarkable diversity during the Cretaceous of Gondwana, particularly in South America. Although paleohistology has expanded our knowledge of the paleobiology of notosuchians, several clades of this lineage remain poorly understood in this aspect. Here we help to address this gap by conducting the first histological analysis of appendicular bones of a peirosaurid.

Altered retinal vasculature in childhood cancer survivors: Data from the German CVSS-study.

Aims: Childhood cancer is a risk factor for cardiovascular diseases in later life. Retinal examination allows to non-invasively observe the vasculature of an end-organ. We observe alterations in long-term childhood cancer survivors (CCS).

7. Cervical facet pain: Degenerative alterations and whiplash-associated disorder.

Introduction: Pain from the cervical facet joints, either due to degenerative conditions or due to whiplash-related trauma, is very common in the general population. Here, we provide an overview of the literature on the diagnosis and treatment of cervical facet-related pain with special emphasis on interventional treatment techniques.

Methods: A literature search on the diagnosis and treatment of cervical facet joint pain and whiplash-associated disorders (WAD) was performed using PubMed, Cochrane, and Embase databases.

Scala tympani drill-out technique for oval window atresia with malformed facial nerve:update.

Background: In some rare cases of congenital aplasia of the oval window (OW), malformed facial nerve (FN) locations covering the most or entire OW present a challenge to hearing reconstruction, there is no a highly effective surgical hearing reconstruction methods.

Aims/objectives: To update a Scala tympani drill-out technique (SDT) for abnormal FN course covering the OW.

Material And Methods: All patients of congenital atresia of the OW was recruited between August 2014 and July 2023 in a tertiary-care center.

Serial Quantitative Evaluation of Load Redistribution and Osteotomy Gap After Medial Open-Wedge High Tibial Osteotomy.

The goal of medial open-wedge high tibial osteotomy (MOW-HTO) is to redistribute load by realigning the lower limb. This surgery is indicated for mild to moderate medial compartment osteoarthritis with varus deformity in cases unresponsive to conservative treatment. Procedures for accompanying cartilage lesions, such as multiple drilling on the medial femoral condyle (MFC), are often performed simultaneously, potentially affecting bone metabolism along with load redistribution and union progression.

Evaluation of the relationship between the bone alignment of the lower extremity and the importance of Q angle in male athletes.

Introduction: Evaluating the mechanical-anatomical alignment and angles of the knee joint is crucial for athletes. We aimed to analyse the relationship between lower extremity bone alignment and the importance of the Q angle (QA) in male athletes.

Methods: We included 38 male professional football athletes without any alignment or varus-valgus deformity who actively played football in various football clubs in Istanbul.

Loss of Type 2 Bone Morphogenetic Protein Receptor Activates NOD-Like Receptor Family Protein 3/Gasdermin E-Mediated Pyroptosis in Pulmonary Arterial Hypertension.

Background: Pulmonary arterial hypertension (PAH) is an incurable disease initiated by endothelial dysfunction, secondary to vascular inflammation and occlusive pulmonary arterial vascular remodeling, resulting in elevated pulmonary arterial pressure and right heart failure. Previous research has reported that dysfunction of type 2 bone morphogenetic protein receptor (BMPR2) signaling pathway in endothelium is inclined to prompt inflammation in PAH models, but the underlying mechanism of BMPR2 deficiency-mediated inflammation needs further investigation. This study was designed to investigate whether BMPR2 deficiency contributes to pulmonary arterial hypertension via the NLRP3 (NOD-like receptor family protein 3)/GSDME (gasdermin E)-mediated pyroptosis pathway.

Directional Freeze-Casting Cryogel Loaded with Quaternized Chitosan Modified Gallium Metal-Organic Frameworks to Capture and Eradicate the Resistant Bacteria for Guided Regeneration in Infected Bone Defects.

Antimicrobial resistance and impaired bone regeneration are the great challenges in treating infected bone defects. Its recurrent and resistant nature, high incidence rate, long-term hospitalization, and high medical costs have driven the efforts of the scientific community to develop new therapies to improve the situation. Considering the complex microenvironment and persistent mechanisms mediated by resistant bacteria, it is crucial to develop an implant with enhanced osseointegration and sustained and effective infection clearance effects.

Improved Black Phosphorus Nanocomposite Hydrogel for Bone Defect Repairing: Mechanisms for Advancing Osteogenesis.

Bone defects caused by fractures and diseases often do not heal spontaneously. They require external agents for repair and regeneration. Bone tissue engineering is emerging as a promising alternative to traditional therapies like autografts and allografts.

Identification of subtrochanteric and femoral shaft fractures as atypical femur fractures on radiology reports.

Background: Bisphosphonate-associated stress fractures, atypical femur fractures (AFF), are a rare subgroup of femoral stress fractures. Their correct and early diagnosis is imperative for appropriate treatment.

Purpose: To investigate the sensitivity of written radiology reports to mention radiographic features of AFF, depending on the time period and academic level of the hospital.

Navigating Hope and Complexity: Turkish Parents' Experiences with Savior Siblings.

Background/aims: Preimplantation genetic diagnosis (PGD) with human leukocyte antigen (HLA) typing represents a significant advancement in treating inherited hematological disorders, particularly thalassemia major. This technology enables the birth of healthy children who can serve as compatible stem cell donors for their affected siblings. Turkey is a world leader in both PGD+HLA typing technology and hematopoietic stem cell transplantation from savior siblings born through PGD+HLA typing.

CD34hi subset of synovial fibroblasts contributes to fibrotic phenotype of human knee osteoarthritis.

Osteoarthritis (OA) shows various clinical manifestations depending on the status of its joint components. We aimed to identify the synovial cell subsets responsible for OA pathophysiology by comprehensive analyses of human synovium samples in single-cell resolution. Two distinct OA synovial tissue groups were classified by gene expression profiles in RNA-Seq: inflammatory and fibrotic.