Revista médica de Chile
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Revista médica de Chile · Sep 2017
Case Reports[Diabetes mellitus caused by a mutation of glucokinase gene. Report of an affected family].
Maturity-Onset Diabetes of the Young (MODY) refers to a heterogeneous group of monogenic diabetes. Unlike other types of MODY characterized by genetic defects in transcription factors, MODY 2 is triggered by metabolic alterations caused by mutations of glucokinase (GCK), the first enzyme of the glycolytic pathway. We report a three-generation Chilean family with multiple cases affected with this disease. ⋯ This mutation was also identified in more than one affected relative in the last two generations, with a transmission pattern suggestive of dominant inheritance. GCK gene sequencing led to a correct molecular diagnosis of MODY 2 while bioinformatic analysis indicated the possible molecular causes of the enzyme dysfunction. The knowledge of the molecular diagnosis allowed an adequate medical treatment for this disease.
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Revista médica de Chile · Sep 2017
Review[Endobronchial ultrasound-guided transbronchial needle aspiration].
In the last years, several techniques have been developed to obtain a prompt diagnosis or rule out lung cancer. Endobronchial ultrasound- guided transbronchial needle aspiration (EBUS-TBNA) is a minimally invasive procedure with a high diagnostic yield for mediastinal and central pulmonary lesions. ⋯ Each one has technical differences together with a range of clinical indications. The aim of this review is to discuss about EBUS-TBNA and its current clinical indications, evidence about the accuracy of the procedure for lung cancer diagnosis and staging, and evaluation of the pathological and molecular studies (EGFR, ALK, and ROS1) obtained through EBUS-TBNA and rapid on-site evaluation (ROSE).
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Revista médica de Chile · Sep 2017
Biography Historical Article[Tribute to the teachers Cora Mayers Glehy and Alfredo Demaría Andreani].
Dr. Cora Mayers Glehy, was the director of the Nursing School, head of the Department of Health Education of the General Health Office, a founding member of the Pediatric Society and Dr. ⋯ Both were brilliant academics of the Faculty of Medicine of the University of Chile in the early 1930's and great achievements were expected from them by the medical and university community. These hopes and longings were destroyed when they tragically ended their lives on the morning of a Monday, January 12, 1931.
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Revista médica de Chile · Sep 2017
[Association between adverse childhood experiences with depression in adults consulting in primary care].
Traumatic experiences during childhood may influence the development of mental disorders during adulthood. ⋯ These data are consistent with the hypothesis that early trauma is associated with more severe and complex depressive episodes during adulthood.