Publications by authors named "S Santos-Lopes"

Article Synopsis
  • Mucopolysaccharidosis (MPS) IVA is a rare genetic disorder with varying occurrence across different ethnic groups, largely due to founder effects.
  • A study of 28 patients highlighted significant parental consanguinity and identified specific genetic mutations linked to the disease, particularly in families showing diverse symptoms among relatives.
  • The analysis of ancestry revealed that most patients had European paternal lineage, particularly associated with the Iberian Peninsula, confirming historical patterns of migration and settlement in Northeastern Brazil.
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The hypothalamic-pituitary-adrenal (HPA) axis is an important hormonal mechanism of the human body and is extremely programmable during embryonic and fetal development. Analyzing its development in this period is the key to understanding in fact how vulnerabilities of congenital diseases occur and any other changes in the phenotypic and histophysiological aspects of the fetus. The environment in which the mother is exposed during the gestational period can influence this axis.

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Introduction: Penile carcinoma is one of the less frequent tumors of the genitourinary system, however its effect on the patients' sex life and quality of life is of great impact. Studies about the influence on patients' sex life are scarce.

Objectives: To characterize sexual activity with penetration of patients with penile carcinoma who underwent different conservative therapeutic approaches and to evaluate pre and post treatment erectile function.

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Bladder endocervicosis is a benign disease, characterized by the presence of ectopic endocervical tissue in the bladder wall, with few cases described in the literature. A case of bladder endocervicosis in a 35-year-old female, with the previous history of cesarean section, subtotal hysterectomy, and right oophorectomy is reported here. The patient was asymptomatic and the bladder lesion was detected on pelvic ultrasonography.

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