Manuel dos Santos Faria

Craniopharyngiomas are rare intracranial tumors originating from the Rathke’s pouch, affecting the sellar and parasellar regions. Despite their benign nature, they cause significant morbidity and mortality due to their proximity to vital structures such as the optic pathways and the hypothalamic-pituitary axis, resulting in endocrine, visual, neurological impairment, and hypothalamic syndrome. Classified into adamantinomatous (ACP) and papillary (PCP), these tumors differ in epidemiology, histology, and pathophysiology. ACP, the most common type, presents a bimodal peak incidence between 5 and 15 years of age and 45 and 60 years of age, while PCP is more restricted to adults. Traditional treatments such as surgery and radiotherapy face significant challenges, including high recurrence rates. Intracystic chemotherapy is used in monocystic ACP but with limited efficacy and adverse effects related to toxicity. Recent advances in molecular biology have introduced targeted therapies, such as BRAF and MEK inhibitors, which show potential benefits in craniopharyngioma patients, particularly in the PCP. For ACP, however, therapeutic outcomes remain limited despite advances in molecular understanding, including mutations in the CTNNB1 gene and growth factors. Increasing investigation into the inflammatory microenvironment and immune response of these tumors presents new therapeutic possibilities and promising alternatives for tumor control, such as the use of anti-IL-6R, anti-VEGF agents and immune checkpoints inhibitors. This review aims to synthesize advancements in the pathophysiology of craniopharyngiomas and explore emerging therapeutic implications, focusing on precision medicine approaches for the management of this challenging disease.

This study aimed to investigate the relationship between Class II human leukocyte antigen (HLA) alleles (DRB1, DQA1, and DQB1) and the severity and extent of periodontitis in patients with Type 1 diabetes (T1D). A cross-sectional study was conducted with 49 patients with T1D. Demographic data and diabetes history were collected. A clinical examination was performed to assess periodontal variables. The patients were categorized by the periodontitis severity and the extent of periodontitis. Peripheral blood samples were analyzed to identify the percentage of autosomal ancestry (Native American, European, and African) and the HLA-DRB1*, HLA-DQA1*, and HLA-DQB1* alleles. The DRB1*03 and DRB1*15 haplogroups were significantly associated with an increased risk of generalized periodontitis (OR = 19.8, 95% CI = 1.14–346, p = 0.003; OR = 41.2, 95% CI = 1.85–917, p < 0.001) and severe periodontitis (OR = 7.7, 95% CI = 1.68–35.5, p = 0.003; OR = 21.2, 95% CI = 0.97–461, p = 0.005). No associations were observed between the HLA-DQA1 and HLA-DQB1 alleles and periodontitis. These findings suggest that patients with T1D from a highly mixed Brazilian population carrying the DRB1*03 and DRB1*15 haplogroups are at higher risk for developing more severe and generalized forms of periodontitis.

Background: Congenital adrenal hyperplasia (CAH) represents a group of autosomal recessive disorders characterized by impaired cortisol synthesis in the adrenal glands. Over 90% of CAH cases result from a deficiency of the enzyme 21-hydroxylase (21OHD). The clinical spectrum of 21OHD ranges from the severe, life-threatening salt-wasting classic form, often presenting with prenatal virilization in females, to the non-classic (milder) form, which lacks glucocorticoid deficiency. Females with the non-classic form may experience symptoms of hyperandrogenism or infertility later in life, while males with non-classic CAH are often undiagnosed due to the subtler presentation. The coexistence of genetic anomalies and CAH is rarely reported in the literature, particularly in cases involving Triple X syndrome—a condition typically associated with a mild and frequently underdiagnosed clinical course. Case presentation: Here, we present a unique case of a 38-year-old woman with a history of premature ovarian failure and subsequent clinical features of hyperandrogenism. Further investigation revealed a novel association between partial 21OHD and a Triple X karyotype—an association not previously documented in the literature. Conclusions: This case highlights the potential for coexisting rare genetic conditions and underscores the critical importance of thorough and meticulous clinical evaluation.

Objective: To identify factors potentially associated with radioiodine-refractory disease among patients treated for differentiated thyroid carcinoma at a referral center in Northeastern Brazil. Methods: A total of 554 medical records of patients with differentiated thyroid carcinoma treated between January 2010 and August 2024 were evaluated. Radioiodine-refractory disease tumors were detected in 44 (7.9%) patients. Clinical, laboratory, and radiological data were compared between the radioiodine-refractory disease and non-radioiodine-refractory disease groups to determine factors associated with poor differentiated thyroid carcinoma outcomes. [...] Abstract Objective: To identify factors potentially associated with radioiodine-refractory disease among patients treated for differentiated thyroid carcinoma at a referral center in Northeastern Brazil. Methods: A total of 554 medical records of patients with differentiated thyroid carcinoma treated between January 2010 and August 2024 were evaluated. Radioiodine-refractory disease tumors were detected in 44 (7.9%) patients. Clinical, laboratory, and radiological data were compared between the radioiodine-refractory disease and non-radioiodine-refractory disease groups to determine factors associated with poor differentiated thyroid carcinoma outcomes.

Background/Objectives: Approximately 25% of the world’s population and more than 60% of patients with type 2 diabetes (T2D) have metabolic-dysfunction-associated steatotic liver disease (MASLD). The association between these pathologies is an important cause of morbidity and mortality in Brazil and worldwide due to the high frequency of advanced fibrosis and cirrhosis. The objective of this study was to determine the epidemiologic and clinical-laboratory profile of patients with T2D and MASLD treated at an endocrinology reference service in a state in northeastern Brazil, and to investigate the association of liver fibrosis with anthropometric and laboratory measurements. Methods: A cross-sectional study was performed in a specialized outpatient clinic with 240 patients evaluated from July 2022 to February 2024, using a questionnaire, physical examination, laboratory tests, and liver elastography with FibroScan^®. Results: Estimates showed that women (adjusted OR = 2.69, 95% CI = 1.35–5.35, p = 0.005), obesity (adjusted OR = 2.23, 95% CI = 1.22–4.07, p = 0.009), high GGT (adjusted OR = 3.78, 95% CI = 2.01–7.14, p < 0. 001), high AST (adjusted OR = 6.07, 95% CI = 2.27–16.2, p < 0.001), and high ALT (adjusted OR = 3.83, 95% CI = 1.80–8.11, p < 0.001) were associated with the risk of liver fibrosis even after adjusted analysis. Conclusions: The study findings suggested that female sex and BMI were associated with an increased risk of liver fibrosis, highlighting the importance of comprehensive evaluation of these patients. In addition, FIB-4 and MAF-5 provided a good estimate of liver fibrosis in our population and may serve as a useful tool in a public health setting with limited resources.

Type 1 diabetes (T1D) is a chronic disease characterized by the immune-mediated destruction of the pancreatic beta cells responsible for insulin production. The secreted insulin and C-peptide are equimolar. Due to its longer half-life, C-peptide has become a safer means of assessing the pancreatic reserve. C-peptide levels were evaluated in a population of patients with T1D, focusing on the relationship between this variable and other factors. In addition, the influence of C-peptide on metabolic control and microvascular complications was investigated. This cross-sectional study included 95 patients who had been diagnosed with T1D at least five years earlier. These patients were evaluated using a clinical demographic survey, anthropometric data, laboratory tests, and fundoscopy. This study showed that 29.5% of patients had residual insulin secretion, which correlated directly with their age at diagnosis. No statistically significant differences in metabolic control or microvascular complications were observed between the C-peptide level groups. In addition, our results indicate that ancestry does not influence the persistence of residual C-peptide function in our highly mixed population. It is recommended that future research consider incorporating new variables, such as HLA and pancreatic autoimmunity, as factors that may influence residual β-cell function.

Objective: To investigate orofacial traits and general factors related to oral health‐related quality of life in acromegaly patients.Materials and Methods: A cross‐sectional study with 34 acromegaly patients was conducted. The OHIP‐14 questionnaire was used to assess oral health‐related quality of life scores. To assess orofacial and occlusion morphology, an oral evaluation was performed. Correlation measures, multiple linear regression and a structural equation model (SEM) were used in the statistical analysis.Results: The presence of arthrosis (SC = 0.467, SE = 0.155, p = 0.003) and smoking history (SC = 0.459, SE = 0.206, p = 0.026) were associated with a negative impact on oral health‐related quality of life. Mandibular protrusion was related to physical pain (β = 2.74, p = 0.029). Anterior open bite (β = 4.44, p = 0.004) and anterior crossbite (β = 2.61, p = 0.026) were related to psychological disability. Diastema was related to social disability (β = 3.42, p = 0.037) and handicap (β = 2.74, p = 0.044).Conclusion: The findings suggest that smoking, arthrosis and orofacial alterations (mandibular protrusion, open bite, crossbite and diastema) have a negative impact on oral health‐related quality of life in acromegaly patients.

We aimed to evaluate the Health-related quality of life (HRQoL) of Type 1 diabetes mellitus (T1D) patients in an admixed Brazilian population. This is a cross-sectional study with 152 T1D patients. HRQoL information was obtained from two self-completed questionnaires: Short Form-6 dimensions and EuroQol-5 dimensions with visual analog scale. For inference of global ancestry, the panel of 46 autosomal informational insertion/deletion ancestry markers was used. Demographic and socioeconomic data, presence of chronic complications, glycemic control level, and type of treatment were obtained. Patients with good HRQoL were: male, under 18 years old, had health insurance, less than 5 years of diagnosis, practiced physical activity, without hypoglycemia in the last 30 days, absence of retinopathy and nephropathy, a participant in educational activities, used analogous insulin, monitoring blood glucose, observed maximum adherence to treatment and came from the secondary service. Global ancestry and self-reported color/race did not influence HRQoL indexes. Our study is the first to measure HRQoL, global ancestry and recognize the impact of T1D on the lives of patients in the State of Maranhão, Brazil. The results validate the need to provide T1D patients with continuous training on self-management and self-monitoring, aiming for better results in metabolic control and, subsequently, in the prevention of acute and chronic complications, in order to generate positive impacts on the quality of life of this population. We understand that global ancestry in a highly mixed population such as ours did not influence the HRQoL of these patients.

Introdução: Diabetes mellitus (DM) é uma doença prevalente que representa um dos grandes desafios para saúde pública. O uso de plantas medicinais vem sendo usada no controle do diabetes como a Persea americana. Desse modo, este trabalho tem como objetivo fazer a coletânea do conhecimento científico sobre a espécie vegetal P. americana no controle do DM por meio de uma revisão sistemática. Métodos: Trata-se de uma revisão sistemática de estudos in vivo e em vitro, segundo recomendações do protocolo PRISMA, nas seguintes etapas: 1) elaboração da pergunta norteadora ocorreu partir do acrônimo PICO (P – População e/ou Problema, I - Intervenção, C - Comparação e O – Outcome /desfechos) com definição dos descritores; 2) amostragem (seleção dos artigos) obedecendo critérios para inclusão/exclusão; 3) busca dos artigos nas bases de dados Scopus, PubMed/MEDLINE e BVS (BIREME); 4) amostragem (seleção dos artigos); 5) definição das informações a serem extraídas dos trabalhos revisados; 6) síntese do conhecimento evidenciado nos artigos analisados. Resultados: Dos 12 artigos selecionados, oito eram estudos experimentais in vivo e 4 estudos experimentais in vitro. Foram usados modelos de animais diabéticos como ratos Goto-Kakizaki e os modelos induzidos com estreptozocina e aloxana. Os estudos mostraram uma redução da glicemia com o uso de extratos de P. americana por diferentes vias fisiopatológicas. Conclusão: A P. americana pode contribuir para a redução do controle do DM podendo ser precursora de novas substâncias com atividade farmacológica e definida como grande potencialidade de transformação de uma futura droga antidiabética.

In the COVID-19 pandemic, there was an increase in consultations for precocious puberty. We aim to analyze differences in female puberty before and during the COVID-19 pandemic. A cross-sectional analytical study was designed at the Pediatric Endocrinology Clinic of the University Hospital of the Federal University of Maranhão in São Luis, Brazil. We included 55 girls with precocious puberty, 22 who started puberty during the pandemic and 33 who started puberty before the pandemic. Clinical, anthropometric, laboratory and imaging variables were compared between groups. Statistics were performed to determine if there was a statistical difference between the groups. Girls with puberty during the pandemic had higher Z-scores for weight (1.08 ± 1.29 versus 0.69 ± 0.83; p = 0.04), lower ovarian volume (1.88 ± 0.95 versus 3.15 ± 2.31; p = 0.01), and smaller differences between thelarche noticed by the parents and the diagnosis (6.63 ± 5.21 versus 12.15 ± 9.96; p = 0.02). The association between precocious puberty during the pandemic with higher Z-scores for weight, lower ovarian volume, and a reduction in the time between the perception of pubertal findings by parents and the diagnosis suggests the influence of the pandemic on the normal time of puberty.