Medicina
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Background and Objectives: Acromegaly is a rare disease associated with increased levels of growth hormones (GHs) that stimulates the hepatic production of insulin growth factor-1 (IGF-1). Increased secretion of both GH and IGF-1 activates pathways, such as Janus kinase 2/signal transducer and activator of transcription 5 (JAK2/STAT5), and mitogen-activated protein kinase (MAPK), involved in the development of tumors. Materials and Methods: Given the disputed nature of the topic, we decided to study the prevalence of benign and malignant tumors in our cohort of acromegalic patients. ⋯ Malignant tumors were present only in women (14.70%) and the most frequent type was thyroid carcinoma. Conclusions: DM and obesity might be associated with tumoral proliferation in patients with acromegaly, and findings also present in the general population. In our study we did not find a direct link between acromegaly and tumoral proliferations.
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Case Reports
A De Novo 8q22.2q22.3 Interstitial Microdeletion in a Girl with Developmental Delay and Congenital Defects.
Background and Objectives: Only nine patients with interstitial de novo 8q22.2q22.3 microdeletions have been reported to date. The objective of this report is to present clinical features of a new patient with an 8q22.2q22.3 microdeletion, to compare her phenotype to other previously reported patients, and to further expand the phenotype associated with this microdeletion. Materials and Methods: We describe an 8½-year-old girl with developmental delay, congenital hip dysplasia, a bilateral foot deformity, bilateral congenital radioulnar synostosis, a congenital heart defect, and minor facial anomalies. ⋯ Conclusions: Microdeletions in the 8q22.2q22.3 region are characterized by moderate to severe intellectual disability, seizures, distinct facial features and skeletal abnormalities. In addition to one already reported individual with an 8q22.2q22.3 microdeletion and unilateral radioulnar synostosis, this report of a child with bilateral radioulnar synostosis provides additional evidence, that radioulnar synostosis is not an incidental finding in individuals with an 8q22.2q22.3 microdeletion. Additional patients with similar microdeletions would be of a great importance for more accurate phenotypic description and further analysis of the genotypic-phenotypic relationship.
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At the time of diagnosis, the vast majority of prostate carcinoma patients have a clinically localized form of the disease, with most of them presenting with low- or intermediate-risk prostate cancer. In this setting, various curative-intent alternatives are available, including surgery, external beam radiotherapy and brachytherapy. ⋯ Proton beam radiotherapy represents a promising strategy, but further studies are needed to make it more affordable and accessible. At the moment, new technologies such as MRI-guided radiotherapy remain in early stages, but their potential abilities are very promising.
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We examined the utility of regional oxygen saturation (rSO2) measurement using near-infrared spectroscopy (NIRS) for monitoring lower-limb blood flow and estimate the safe balloon occlusion/deflation time in patients with PAS who underwent prophylactic balloon occlusion of the abdominal artery (PBOA) during cesarean section (CS). During CS, the NIRS probes were positioned on either of the anterior tibial muscles. rSO2 was measured continuously during balloon occlusion/deflation. A cycle consisted of inflating the aortic balloon for 30 min and deflating it for 5 min. ⋯ There were no significant differences between rSO2 before balloon occlusion and rSO2 after 5 min of balloon deflation (80.3% ± 6.0% vs. 78.7% ± 6.6%; p = 0.07). Postoperatively, the lower limbs showed no ischemic symptoms. NIRS can assess lower-limb rSO2 during PBOA for PAS in real time to determine ischemia severity, duration, and recovery capacity.
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Background: In recent years, surgical interventions for obstructive sleep apnea (OSA) have evolved rapidly, with numerous techniques described in the literature. The approach to velopharyngeal surgery for obstructive sleep apnea has transformed over time, shifting from an aggressive removal of redundant excess soft tissue to less invasive reconstruction techniques that aim to preserve pharyngeal function while effectively managing sleep apnea. This review aims to evaluate and compare the efficacy of the surgical techniques utilized for OSA at the level of the palate and pharynx. ⋯ Conclusions: In our review, BRP was the most preferred, effective, and safe among all velopharyngeal techniques, closely followed by ESP. However, older described techniques also showed good results in well-selected patients. Larger-scale studies, preferably prospective, that rigorously incorporate DISE-based strict inclusion criteria might be needed to assess the efficacy of different techniques and generalize the findings.