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Cardiospondylocarpofacial syndrome (CSCF; OMIM#157800) is characterized by growth impairment, failure to thrive in infancy, multiple valvular disease, carpal and tarsal fusions, vertebral fusions, and joint hypermobility. It is caused by pathogenic variants of MAP3K7, which encodes transforming growth factor‐β activated kinase 1 (TAK1), a member of the mitogen‐activated protein kinase kinase kinase family (MAPKKK). Only eight individuals with molecularly confirmed CSCF have been reported. Here, we report the first Asian CSCF male with a novel missense variant of MAP3K7 (NM_145331.3: c.467A > T: p.Asp156Val). We compared and reviewed the clinical and molecular findings in previously reported CSCF cases and the present case to better delineate the phenotype of CSCF. In addition to the main symptoms of CSCF, the present case had a mixed phenotype of Ehlers–Danlos syndrome (EDS) and Noonan syndrome. Taking this case together with the previously reported cases, CSCF may overlap with the phenotypes of EDS and Noonan syndrome, suggesting that this finding may contribute to diagnosing CSCF. Another major achievement of this research is to successfully capture the process of carpal fusion in a CSCF case radiographically. This work may expand the phenotypic spectrum of CSCF. [ABSTRACT FROM AUTHOR]

Elsahy–Waters syndrome (EWS; OMIM#211380) is a rare autosomal recessive disorder that is caused by loss‐of‐function variants in CDH11, which encodes cadherin 11. EWS is characterized by brachycephaly, midface hypoplasia, characteristic craniofacial morphology, cervical fusion, cutaneous syndactyly in 2–3 digits, genitourinary anomalies, and intellectual disability. To the best of our knowledge, there have been only six patients of molecularly confirmed EWS. We report the first patient of EWS in East Asia in a Japanese man with a novel splice site homozygous variant of CDH11. We reviewed the clinical and molecular findings in previously reported individuals and the present patient. In addition to the previously reported clinical features of EWS, the present patient had unreported findings of atlantoaxial instability due to posterior displacement of dens, thoracic fusion, thoracic butterfly vertebra, sacralization of the lumbar vertebra (L5), and multiple perineural cysts. The spinal findings in this patient could represent a new spectrum of skeletal phenotypes of EWS. It remains to be clarified whether the multiple perineural cysts in the patient were associated with EWS or coincidental. The current observation might contribute to an expanded understanding of the clinical consequences of loss‐of‐function of cadherin 11. [ABSTRACT FROM AUTHOR]

Primary racemose hemangioma of the bronchial artery (RHBA) is a rare congenital condition characterized by enlarged and convoluted bronchial arteries, often forming fistulas between the pulmonary artery or vein. Herein, we report a case of balloon-assisted embolization using N-butyl-2-cyanoacrylate (NBCA) performed for a primary RHBA in an asymptomatic 57-year-old woman. There were 2 tortuous and dilated branches of the right bronchial artery (RBA) (arising from the left subclavian artery and the descending thoracic aorta) which merged in the right pulmonary hilar region, forming multiple aneurysms that short-circuited the right pulmonary artery. Embolization was performed via the RBA arising from the subclavian artery using a triaxial system (a 5-Fr guiding catheter, a 2.7-Fr microballoon catheter, and a 1.9-Fr microcatheter). The guiding catheter was inserted into the peripheral side of the RBA using the microballoon catheter as an anchor; the balloon was slightly inflated and advanced further into the peripheral side using blood flow. The microcatheter was inserted as close to the aneurysms as possible and embolization was done using an NBCA-iodized oil mixture under blood flow control by the microballoon catheter. Bronchial artery embolization is the treatment of choice for primary RHBA because of the risk of rupture, and balloon-assisted techniques can help guide the catheter distally while also controlling blood flow., (© 2024 The Authors. Published by Elsevier Inc. on behalf of University of Washington.)

Introduction: Hip fractures are commonly associated with osteoporosis and pose a risk for secondary fractures. Although the administration of anti-osteoporotic drugs is recommended after fractures to mitigate this risk, the potential effect of strong anti-resorptive drugs (e.g., denosumab) on fracture healing processes have not been extensively studied. This prospective study aimed to evaluate the feasibility of early denosumab administration after femoral intertrochanteric fracture surgery and to compare its effect on fracture healing to that of bisphosphonate-treated patients., Materials and Methods: Patients who underwent surgery for intertrochanteric femoral fragility fractures between November 2018 and November 2020 were prospectively examined. Patients were randomized into two groups (denosumab [DSM] and ibandronate [IBN] groups) using a simple randomization procedure. Physical findings, plain radiographs, and computed tomography (CT) were used to evaluate fracture healing at 3 months postoperatively., Results: Physical findings showed no significant differences between the two groups in pain on loading, tenderness at fracture site, or walking ability. There were inter-rater differences in radiological fracture healing rate: plain radiographs, 57.5%-81.8% in the DSM group and 51.5%-90.9% in the IBN group; CT, 51.5%-72.7% in the DSM group and 45.4%-81.8% in the IBN group. Although there were variations, there were no significant differences in the fracture healing rate between groups on plain radiographs or CT among all three raters., Conclusions: Early administration of denosumab after intertrochanteric femoral fracture surgery did not delay radiological or clinical fracture healing times when compared with ibandronate administration., Competing Interests: Declaration of competing interest The Authors declares that there is no conflict of interest., (Copyright © 2024. Published by Elsevier B.V.)