Revista da Associacao Medica Brasileira (1992)
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Rev Assoc Med Bras (1992) · Jan 2023
High diagnostic yield with algorithmic molecular approach on hereditary neuropathies.
Charcot-Marie-Tooth disease covers a group of inherited peripheral neuropathies. The aim of this study was to investigate the effect of targeted next-generation sequencing panels on the molecular diagnosis of Charcot-Marie-Tooth disease and its subtypes in routine clinical practice, and also to show the limitations and importance of next-generation sequencing in the diagnosis of Charcot-Marie-Tooth diseases. ⋯ The molecular etiology in Charcot-Marie-Tooth disease patients can be determined according to pre-test evaluation, deciding the inheritance type with pedigree analysis, the clinical phenotype, and an algorithm for the genetic analysis. The presence of patients without a molecular diagnosis in all the literature suggests that there are new genes or mechanisms waiting to be discovered in the etiology of Charcot-Marie-Tooth disease.
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Rev Assoc Med Bras (1992) · Jan 2023
The clinical significance of lymphovascular space invasion in patients with low-risk endometrial cancer.
The aim of this study was to assess the effect of lymphovascular space invasion on recurrence and disease-free survival in patients with low-risk endometrial cancer. ⋯ lymphovascular space invasion is a prognostic risk factor for recurrence and distant metastasis and also a predictor of poorer disease-free survival outcomes in low-risk endometrial cancer.
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Rev Assoc Med Bras (1992) · Jan 2023
Accuracy of intrapartum cardiotocography in identifying acidemia at birth by umbilical cord blood gasometry in high-risk pregnancies.
The aim of this study was to evaluate the accuracy of intrapartum cardiotocography in identifying acidemia at birth by umbilical cord blood gasometry in high-risk pregnancies. ⋯ All three categories of intrapartum cardiotocography showed low sensitivity and high specificity for identifying acidemia at birth.
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Rev Assoc Med Bras (1992) · Jan 2023
Collagen content and C-X-C motif chemokine ligand 12 expression in neoplastic breast stroma.
This study aimed to evaluate the expression of C-X-C motif chemokine ligand 12 and its C-X-C chemokine receptor type 4, and the tumor-stroma ratio using collagen stromal content of breast cancer samples, correlating it with clinicopathological data. ⋯ Low expression of C-X-C motif chemokine ligand 12 may be associated with a worse prognosis for breast cancer. Collagen staining analyzed using digital images represents an opportunity for clinical application and is indicative of the prognosis of the tumor microenvironment in breast carcinoma.
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Rev Assoc Med Bras (1992) · Jan 2023
Early outcomes of robotic retroperitoneal partial nephrectomy: evaluating surgical success with margin, ischemia, and complication score.
The objective of this study was to evaluate the minimum number of required cases for successful robotic retroperitoneal partial nephrectomy for an experienced surgeon in transperitoneal robotic surgery. ⋯ A total of 25 or more cases appear to be sufficient to provide optimal surgical results in robotic retroperitoneal partial nephrectomy for an experienced surgeon.