Medicine
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Stereotactic body radiotherapy (SBRT) and immune checkpoint inhibitors (ICIs) could obtain a certain synergistic effect on bone and soft tissue sarcoma (BSTS). Given its low radiosensitivity, BSTS usually require an irradiation dose >65 Gy to achieve local control. Herein, we developed a non-classical SBRT technique called "onion-shaped simultaneous boost (OSB)," and reported a patient with prostatic leiomyosarcoma which received non-classical SBRT and other systemic treatments. ⋯ In this clinical case, we have observed that the OSB technique, which employs an increased per-fraction radiotherapy dose without the need to match the single-fraction doses typical of conventional SBRT, effectively enhances the therapeutic impact on leiomyosarcoma without an increase in radiotherapy-related side effects. By integrating the OSB technique with a multidisciplinary array of antineoplastic strategies, we can more effectively manage sarcomas in clinical practice.
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Charcot-Marie-Tooth (CMT) disease, a hereditary motor and sensory neuropathy, presents with progressive chronic sensory and distal motor polyneuropathy. While sensorineural hearing loss and vestibular impairment have been documented in CMT patients, concurrent middle ear cholesteatoma and persistent direction-changing positional nystagmus have not. ⋯ This case highlights 3 key points: facial nerve hypertrophy in CMT requiring differentiation from schwannoma, the first reported instance of middle ear cholesteatoma in a CMT patient, and vertigo due to acute otitis media complicated by serous labyrinthitis, manifesting as direction-changing positional nystagmus. These findings underscore the need for thorough diagnosis and management in such presentations. This is the first report of concomitant middle ear cholesteatoma in a CMT patient, illustrating the complexity of diagnosis and treatment.
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Through family investigation, the genetic map was drawn and audiological characteristics were analyzed. High-throughput sequencing was used to screen the deafness genes of the proband. Sanger sequencing was used to verify the suspected pathogenic sites in the family. ⋯ In this study, a new locus of the TRIOBP gene was found, which enriched the gene mutant spectrum and clarified the pathogenic gene of the proband. However, the etiology of deafness in other members of the family needs to be further analyzed.
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Acalvaria is an exceptionally rare congenital disorder marked by the absence of flat bones of the cranial vault, dura mater, and associated muscles, while the facial bones and base of the skull remain intact. Typically, the central nervous system is unaffected. Due to their extreme rarity, reported cases in the literature are infrequent. This condition often results in fatalities, as newborns with this anomaly generally have short life expectancies. However, there are a few documented cases of prolonged survival. ⋯ This case reveals a unique combination of acalvaria and absent clavicles. Early antenatal diagnosis is essential but was delayed here. More research is needed to understand and improve the diagnosis of these conditions.
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Antiphospholipid antibody syndrome and protein S/C deficiency are diseases that are sometimes complicated by thrombus, and heparin-induced thrombosis (HIT) has also been reported. ⋯ Although HIT alone can cause severe arteriovenous thrombosis, our case suggests that it is important to search for the underlying procoagulant factors.