1.Frequencies of Cytochrome P450 2B6 and 2C8 Allelic Variants in the Mozambican Population
Paulo Arnaldo ; Ricardo Estevão Thompson ; Márcia Quinhones Lopes ; Philip Noel Suffys ; Adalberto Rezende Santos
Malaysian Journal of Medical Sciences 2013;20(4):13-23
Background: The cytochrome P450 enzymes (CYP) play an important role in the metabolism of many therapeutic agents. The activities of different enzymes exhibit variability in different populations, which causes variations in drug response or toxicity. The CYP2B6 and CYP2C8 enzymes are encoded by polymorphic genes characterised by different single nucleotide polymorphisms (SNPs). Several of these CYP variants are often associated with slow metabolism phenotypes. This study aimed to analyse the frequencies of allelic variants of CYP2B6 and CYP2C8 in the Mozambican population.
Methods: Using a polymerase chain reaction and restriction fragment length polymorphism assay (PCR-RFLP), the frequencies of the allelic variants of CYP2B6 (c.64C>T, c.516G>T, c.777C>A, c.785A>G, c.1459C>T) and CYP2C8 (c.805A>T, c.416G>A, c.1196A>G, c.792C>G) were determined in 360 Mozambican blood donors.
Results: The frequencies of the allelic variants of the CYP2B6 gene were 0.057, 0.426, 0.0, 0.410, and 0.004. For the CYP2C8 gene, the frequencies of the allelic variants were 0.160, 0.048, 0.0, and 0.005. No significant differences were observed between the gender and geographic distribution of volunteers around the country.
Conclusion: The frequencies of the allelic variants of the CYP2B6 and CYP2C8 genes were found to be homogeneously distributed in the Mozambican population and were comparable to other African populations. Further studies are required to explore the impact of these variants on the clinical response (efficacy and toxicity) of drugs, including antimalarials.
Gene Frequency
;
Cytochrome P-450 CYP2B6
;
Cytochrome P-450 CYP2C8
;
Polymorphism, Genetic
2.Elevated Gastric Antrum Erosions in Portal Hypertension Patients: Peptic Disease or Mucosal Congestion?.
Fernanda CORDEIRO DE AZEVEDO CONEJO ; Mabel Tatty Medeiros FRACASSI ; Maurício Saab ASSEF ; Maurício Alves RIBEIRO ; Luiz Arnaldo SZUTAN ; Fabio Gonçalves FERREIRA
The Korean Journal of Gastroenterology 2017;69(5):278-282
BACKGROUND/AIMS: Portal hypertension (PH) is a syndrome characterized by chronic increase in the pressure gradient between the portal vein and inferior vena cava. Previous studies have suggested an increased frequency of antral elevated erosive gastritis in patients with PH, as well as an etiologic association; however, there has not been any histological evidence of this hypothesis to date. Our aim was to evaluate the histological features found in elevated antral erosions in patients with portal hypertension. METHODS: Sixty-nine patients were included; 28 with and 41 without PH. All patients underwent endoscopy, and areas with elevated antral erosion were biopsied. RESULTS: In the PH group, 24 patients had inflammatory infiltration with or without edema and vascular congestion, and 4 patients had no inflammation. In the group without PH, all patients showed inflammatory infiltration of variable intensity. There was no statistical significance between the two groups in the presence of Helicobacter pylori. There as a histological similarity between the two groups, if PH patients without inflammation were excluded; however, more edema and vascular congestion were observed in the PH group (p=0.002). CONCLUSIONS: The findings show that elevated antral erosions in patients with PH have more evident edema and vascular congestion in addition to lymphocytic infiltration.
Edema
;
Endoscopy
;
Estrogens, Conjugated (USP)*
;
Gastric Antral Vascular Ectasia
;
Gastritis
;
Helicobacter pylori
;
Humans
;
Hydrogen-Ion Concentration
;
Hypertension, Portal*
;
Inflammation
;
Lymphocytes
;
Portal Vein
;
Pyloric Antrum*
;
Vena Cava, Inferior
3.Bone and Calcified Soft Tissue Metastases of Medullary Thyroid Carcinoma Better Characterized on ¹⁸F-Fluoride PET/CT than on ⁶⁸Ga-Dotatate PET/CT
Paulo Schiavom DUARTE ; Luciana Audi DE CASTRONEVES ; Heitor Naoki SADO ; Marcelo Tatit SAPIENZA ; Ana Amélia Fialho DE OLIVEIRA HOFF ; Carlos Alberto BUCHPIGUEL
Nuclear Medicine and Molecular Imaging 2018;52(4):318-323
Herein, we report a case of a 19-year-old man with multiple endocrine neoplasia type 2B (MEN2B) and medullary thyroid carcinoma (MTC) diagnosed when he was 12 years of age. The patient had previously undergone total thyroidectomy, cervical radiotherapy, and chemotherapy. He progressed with known bone, pulmonary, and lymph node metastases and was scanned with ¹⁸F-fluoride (¹⁸F-NaF) and ⁶⁸Ga-dotatate whole-body positron emission tomography/computed tomography (PET/CT) for metastatic disease monitoring.We found that the MTC bone metastases and soft tissue calcified metastases were better characterized on ¹⁸F-NaF PET/CT than on ⁶⁸Ga-dotatate PET/CT. This case illustrates that the ¹⁸F-NaF PET/CT could be helpful not only to the detection of bone metastases but also to the detection of calcified soft tissue metastases in patients with MTC.
Drug Therapy
;
Electrons
;
Humans
;
Lymph Nodes
;
Multiple Endocrine Neoplasia Type 2b
;
Neoplasm Metastasis
;
Positron-Emission Tomography and Computed Tomography
;
Radiotherapy
;
Thyroid Gland
;
Thyroid Neoplasms
;
Thyroidectomy
;
Young Adult
4.Bone and Calcified Soft Tissue Metastases of Medullary Thyroid Carcinoma Better Characterized on ¹â¸F-Fluoride PET/CT than on â¶â¸Ga-Dotatate PET/CT
Paulo Schiavom DUARTE ; Luciana Audi DE CASTRONEVES ; Heitor Naoki SADO ; Marcelo Tatit SAPIENZA ; Ana Amélia Fialho DE OLIVEIRA HOFF ; Carlos Alberto BUCHPIGUEL
Nuclear Medicine and Molecular Imaging 2018;52(4):318-323
Herein, we report a case of a 19-year-old man with multiple endocrine neoplasia type 2B (MEN2B) and medullary thyroid carcinoma (MTC) diagnosed when he was 12 years of age. The patient had previously undergone total thyroidectomy, cervical radiotherapy, and chemotherapy. He progressed with known bone, pulmonary, and lymph node metastases and was scanned with ¹â¸F-fluoride (¹â¸F-NaF) and â¶â¸Ga-dotatate whole-body positron emission tomography/computed tomography (PET/CT) for metastatic disease monitoring.We found that the MTC bone metastases and soft tissue calcified metastases were better characterized on ¹â¸F-NaF PET/CT than on â¶â¸Ga-dotatate PET/CT. This case illustrates that the ¹â¸F-NaF PET/CT could be helpful not only to the detection of bone metastases but also to the detection of calcified soft tissue metastases in patients with MTC.