Publications by authors named "Carlos Quintana"

Targeted therapy in lung cancer requires the assessment of multiple oncogenic driver alterations, including fusion genes. This retrospective study evaluated the Idylla GeneFusion prototype, an automated and ease-of-use (<2 minutes) test, with a short turnaround time (3 hours) to detect fusions involving ALK, ROS1, RET, and NTRK1/2/3 genes and MET exon 14 skipping. This multicenter study (18 centers) included 313 tissue samples from lung cancer patients with 97 ALK, 44 ROS1, 20 RET, and 5 NTRKs fusions, 32 MET exon 14 skipping, and 115 wild-type samples, previously identified with reference methods (RNA-based next-generation sequencing/fluorescence in situ hybridization/quantitative PCR).

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Restoring the control of food intake is the key to obesity management and prevention. The arcuate nucleus (ARC) of the hypothalamus is extensively being studied as a potential anti-obesity target. Animal studies showed that neuropeptide FF (NPFF) reduces food intake by its action in neuropeptide Y (NPY) neurons of the hypothalamic ARC, but the detailed mode of action observed in human neurons is missing, due to the lack of a human-neuron-based model for pharmacology testing.

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Melatonin is present in all living organisms where it displays a diversity of physiological functions. Attenuation of melanogenesis by melatonin has been reported in some mammals and also in rodent melanoma cells. However, melatonin may also stimulate melanogenesis in human melanoma cells through mechanisms that have not yet been revealed.

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Paleopathology in bones of very small mammals has rarely been studied. Different types of osseous lesions of mammals weighing under 0.2kg, recovered from the Holocene strata of Cueva Tixi archaeological and paleontological site (Tandilia range, province of Buenos Aires, Argentina), are described and discussed in this report.

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The association between plasmacytomas and multiple myeloma (MM) is well-described, and in about one third of the cases of plasmacytoma the additional study will lead to the diagnosis of MM. The finding of plasmacytomas in the genital tract is extremely rare, with sparse cases described in the literature, and these cases pose a challenge regarding the optimal guidance and treatment. This paper describes a case of uterine extramedullary plasmacytoma in a 79-year-old woman with complaints of postmenopausal abnormal uterine bleeding.

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Melatonin is an endogenous indoleamine with a wide range of biological functions. In addition to modulating circadian rhythms, it plays important roles in the health as an antioxidant. Melatonin has also the ability to induce apoptosis in cancer cells and to enhance the antitumoral activity of chemotherapeutic agents.

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Congenital intestinal lymphangiectasis (LIP) is a protein-losing enteropathy that appears sporadically in children. It begins with edema due to hypoproteinemia and hypoalbuminemia, and in some cases with ascites, immunodeficience and hypocalcemic tetania. The purpose of this report is to present two patients with LIP which appeared during the first year of life.

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Congenital esophageal stenosis, a rare disease of unknown cause which reports have increased in the last few years, requires a high index of suspicion for its diagnosis and treatment. It can be classified in three types based on the etiology of the stenosis: tracheobronchial rest, fibromuscular hypertrophy and membranous diaphragm. Symptoms may vary depending on location and severity of the stenosis.

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Aim: To study the association between exposure to Salmonella enterica (SE) and Crohn's disease (CD) and its clinical implications in Chilean patients.

Methods: Ninety-four unrelated Chilean CD patients from CAREI (Active Cohort Registry of Inflammatory Bowel Disease) presenting to a single inflammatory bowel disease (IBD) unit of a University Hospital were prospectively included in this study. A complete clinical evaluation, including smoking history, was performed at the initial visit, and all the important data of clinical evolution of CD were obtained.

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Introduction: Occult hepatitis B virus (HBV) infection, defined as the presence of HBV DNA in the liver (with detectable or undetectable HBV DNA in the serum), has been reported in patients with chronic hepatitis C. Some data suggest its association with a more severe liver disease and a worse response to interferon therapy in this subgroup of patients. However, the clinical significance of this condition is still under debate.

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Malignant peritoneal mesothelioma is a rare tumor arising from the mesothelial cells of this serosal membrane. The authors report a case of a female patient referred to our hospital for ascites of unknown etiology. As all the exams requested were negative, the patient underwent a diagnostic laparoscopy with biopsies of multiple peritoneal nodules.

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We have re-examined many of the abundant publications on the illness that afflicted Charles Darwin during most of his life, including some of the 416 health-related letters in his correspondence, as well as his autobiographical writings. We have concluded that he suffered from Crohn's disease, located mainly in his upper small intestine. This explains his upper abdominal pain, his flatulence and vomiting, as well as his articular and neurological symptoms, his 'extreme fatigue', low fever and especially the chronic, relapsing course of his illness that evolved in bouts, did not affect his life expectancy and decreased with old age, and also the time of life at which it started.

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This paper undertakes an analysis of the scientific criteria used in the diagnosis of death and underscores the importance of intellectual rigor in the definition of medical concepts, particularly regarding such a critical issue as the diagnosis of death. Under the cardiorespiratory criterion, death is defined as "the irreversible cessation of the functioning of an organism as a whole", and the tests used to confirm this criterion (negative life-signs) are sensitive and specific. In this case, cadaverous phenomena appear immediately following the diagnosis of death.

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