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1.
Int J Surg Case Rep ; 114: 109144, 2024 Jan.
Artigo em Inglês | MEDLINE | ID: mdl-38113568

RESUMO

INTRODUCTION AND IMPORTANCE: Tuberculosis of the central nervous system is unusual and accounts for 1 % of all cases of tuberculosis in the world. The pituitary location is even scarcer. CASE PRESENTATION: A 14-year-old girl presented with polyuria-polydipsia syndrome and menstrual irregularity. MRI showed an intrasellar lesion of the pituitary gland. She underwent transsphenoidal surgery for histopathological diagnosis and removal of the lesion. Histological findings were consistent with a tuberculoma. She was put on anti-tuberculosis drugs and is being followed up. CLINICAL DISCUSSION: In endemic areas, pituitary tuberculosis should be considered in the differential diagnosis of pituitary tumors. The histological examination will guide the diagnosis. Sometimes, other complementary examinations such as the tuberculin skin test can be of great help when the histology is not conclusive. Medical treatment can be curative, however, surgery can be necessary for decompression. CONCLUSION: In addition to being the first case of histologically proven primary pituitary tuberculosis in a child reported in Morocco, the present case is unique in the way that the extensive radiological examinations did not reveal any evidence of other systemic or pulmonary tuberculosis.

2.
J Cyst Fibros ; 5(1): 47-51, 2006 Jan.
Artigo em Inglês | MEDLINE | ID: mdl-16377260

RESUMO

Diabetes mellitus (DM) and abnormal glucose tolerance (IGT) are common in cystic fibrosis (CF). The loss of pancreatic beta-cells due to pancreatic fibrosis is thought to be one of the principal causes of diabetes in CF, but the aetiology of DM remains somewhat puzzling. Genetic factors may contribute to the development of CF related diabetes (CFRD). The purpose of this study was to investigate the role of polymorphisms in six genes on IGT or DM incidence. PCR and dHPLC were used to screen DNA samples for polymorphisms. Using 2-h oral glucose tolerance tests, 163 adult pancreatic insufficient CF patients have been subdivided in 3 groups: 54 NGT (normal glucose tolerance), 33 IGT and 76 CFRD. We found the first evidence for the association between CFRD and UCSNP-19 polymorphism in the CAPN10 gene. The UCSNP-19 genotype distribution differed significantly between NGT, IGT and CFRD groups. The difference reflected an increase in the 22 genotype (3 copies of 32-bp sequence) in IGT and CFRD patients (p=0.05). Odds ratio for the homozygote 22 versus homozygote 11 was 3.4 (p=0.02). All allele and genotype distributions for the other polymorphisms were similar in the three groups. In conclusion, our observations suggest that UCSNP-19 of CAPN10 may be involved in the pathogenesis of diabetes in CF.


Assuntos
Calpaína/genética , Fibrose Cística/complicações , DNA/genética , Diabetes Mellitus/etiologia , Polimorfismo Genético , Adulto , Alelos , Glicemia/metabolismo , Cromatografia Líquida de Alta Pressão , Fibrose Cística/sangue , Fibrose Cística/genética , Diabetes Mellitus/sangue , Diabetes Mellitus/genética , Feminino , Genótipo , Humanos , Masculino , Reação em Cadeia da Polimerase
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