Medicina
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Failure in the embryological development of the thyroid in adults is rarely seen. We present the case of a 79-year-old female patient who complained of dysphagia and progressive upper respiratory obstruction, which started 12 months prior to her admission. ⋯ Due to the patient's symptoms, a transhyoid tongue base tumour removal was performed. The selected patient gave consent for participation and inclusion in this paper, in compliance with the 1964 Helsinki declaration.
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Basosquamous cell carcinoma (BSCC) is a rare malignancy usually arising on sun-exposed areas of the skin. BSCC is described as a rare variant of Basal cell carcinoma (BCC) which shows clinical and microscopic features of both BCC and of Squamous cell carcinoma (SCC). We report the case of a 70-year-old male with a cutaneous lesion of the nipple-areola complex (NAC); to the best of our knowledge, this is the first ever reported patient with BSCC in this area. ⋯ The patient was discharged home on the 4th post-operative day, and at 18-month follow-up there are no signs or clinical evidence of local recurrence or metastases. Diagnosis of BSCC of the nipple-areola complex requires high index of suspicion and a thorough differential diagnosis, management, and suitable radical treatment due to well described high rates of recurrence and of metastases. Differential diagnosis with similar lesions (e.g., Paget's disease, Bowen's disease, BCC, and SCC) should also be taken into account.
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Introduction: Neuromuscular Diseases (NMD) are associated with decreased bone strength due to altered muscle-bone interaction. However, the evaluation of bone quality remains a certain challenge in these patients. The purpose of this scoping review is to investigate the recent literature regarding the assessment of Bone Mineral Density (BMD) in this population. ⋯ Moreover, a positive correlation between lower BMD and older age was shown. Conclusions: BMD evaluation in NMD remains a clinical challenge, as indicated by the high heterogeneity regarding the optimal site and technique for the evaluation of bone quality in these patients. Although DXA is currently the diagnostic modality of choice, a consensus regarding the optimal site for BMD measurement, and the adjustment method for its obtained measurements for parameters such as age and height is needed.
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Background and Objectives: Elective arthroplasty in Romania has been severely affected by the COVID-19 pandemic, and its effects are not quantified so far. The aim of this paper is to determine the impact of COVID-19 on arthroplasty interventions and how they varied in Romania. Materials and Methods: We performed a national retrospective analysis of patients who underwent primary and revision elective hip and knee interventions at the 120 orthopedic-traumatology hospitals in Romania that are registered in the National Endoprosthesis Registry from 1 January 2019 to 1 September 2022. ⋯ The total hospital revenues were 50.96% lower in 2020 compared to 2019, and are currently increasing, with the 2022 estimate being 81.46%. Conclusions: The conclusion of this study is that the COVID-19 pandemic severely affected the volume of arthroplasty of the 120 hospitals in Romania, which also had unfavorable financial implications. We proposed the development of new procedures and alternative clinical solutions, as well as personalized home recovery programs, to be activated if necessary, for possible future outbreaks.
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Case Reports
The Pathogenic Diagnosis in Pediatric Diabetology: Next Generation Sequencing and Precision Therapy.
In pediatric diabetology, a precise diagnosis is very important because it allows early and correct clinical management of the patient. Monogenic diabetes (MD), which accounts for 1-6% of all pediatric-adolescent diabetes cases, is the most relevant example of precision medicine. The definitive diagnosis of MD, possible only by genetic testing, allows us to direct patients to more appropriate therapy in relation to the identified mutation. ⋯ However, the genetic and phenotypic heterogeneity of MD and the overlapping clinical characteristics between different forms, can complicate the diagnostic process. In recent years, the development of Next-Generation Sequencing (NGS) methodology, which allows the simultaneous analysis of multiple genes, has revolutionized molecular diagnostics, becoming the cornerstone of MD precision diagnosis. We report two cases of patients with clinical suspects of MD in which a genetic test was carried out, using a NGS multigenic panel, and it clarified the correct pathogenesis of diabetes, allowing us to better manage the disease both in probands and other affected family members.