ABSTRACT
Associations between dyslipidemia and metabolic dysfunction-associated steatotic liver disease (MASLD) have been reported. Previous studies have shown that the triglyceride to high-density lipoprotein cholesterol (TG/HDL-C) ratio may be a surrogate marker of MASLD, assessed by liver ultrasound. However, no studies have evaluated the utility of this ratio according to biopsy-proven MASLD and its stages. Therefore, our aim was to evaluate if the TG/HDL-C ratio allows for the identification of biopsy-proven MASLD in patients with obesity. We conducted a case-control study in 153 patients with obesity who underwent metabolic surgery and had a concomitant liver biopsy. Fifty-three patients were classified as no MASLD, 45 patients as metabolic dysfunction-associated steatotic liver-MASL, and 55 patients as metabolic dysfunction-associated steatohepatitis-MASH. A receiver operating characteristic (ROC) analysis was performed to assess the accuracy of the TG/HDL-C ratio to detect MASLD. We also compared the area under the curve (AUC) of the TG/HDL-C ratio, serum TG, and HDL-C. A higher TG/HDL-C ratio was observed among patients with MASLD, compared with patients without MASLD. No differences in the TG/HDL-C ratio were found between participants with MASL and MASH. The greatest AUC was observed for the TG/HDL-C ratio (AUC 0.747, p < 0.001) with a cut-off point of 3.7 for detecting MASLD (sensitivity = 70%; specificity = 74.5%). However, no statistically significant differences between the AUC of the TG/HDL-C ratio and TG or HDL-C were observed to detect MASLD. In conclusion, although an elevated TG/HDL-C ratio can be found in patients with MASLD, this marker did not improve the detection of MASLD in our study population, compared with either serum TG or HDL-C.
Subject(s)
Cholesterol, HDL , Fatty Liver , Liver , Obesity , Triglycerides , Humans , Cholesterol, HDL/blood , Triglycerides/blood , Female , Male , Case-Control Studies , Middle Aged , Liver/pathology , Obesity/blood , Obesity/complications , Biopsy , Fatty Liver/blood , Fatty Liver/diagnosis , Adult , Biomarkers/blood , ROC Curve , Dyslipidemias/bloodABSTRACT
El síndrome de Fraser o síndrome criptoftalmos/sindactilia es una enfermedad genética rara, cuyo diagnóstico se basa en una serie de criterios clínicos mayores y menores, y que puede apoyarse en pruebas genéticas. En este artículo se presenta el caso de una autopsia fetal de 37 semanas de gestación con sospecha de síndrome de CHAOS (síndrome obstructivo congénito de las vías aéreas altas). (AU)
Fraser syndrome or cryptophthalmos-syndactyly syndrome is a rare genetic disease, the diagnosis of which is based on a series of major and minor clinical criteria and that can be supported by genetic tests. This article presents the case of a fetal autopsy at 37 weeks of gestation with suspicion of CHAOS syndrome (congenital obstructive syndrome of the upper airways). (AU)
Subject(s)
Humans , Female , Pregnancy , Fraser Syndrome/diagnosis , Autopsy , Fetal Diseases , Rare Diseases/diagnosis , Syndactyly , Genetic Diseases, Inborn/diagnosisABSTRACT
El síndrome de Fraser o síndrome criptoftalmos/sindactilia es una enfermedad genética rara, cuyo diagnóstico se basa en una serie de criterios clínicos mayores y menores, y que puede apoyarse en pruebas genéticas. En este artículo se presenta el caso de una autopsia fetal de 37 semanas de gestación con sospecha de síndrome de CHAOS (síndrome obstructivo congénito de las vías aéreas altas). (AU)
Fraser syndrome or cryptophthalmos-syndactyly syndrome is a rare genetic disease, the diagnosis of which is based on a series of major and minor clinical criteria and that can be supported by genetic tests. This article presents the case of a fetal autopsy at 37 weeks of gestation with suspicion of CHAOS syndrome (congenital obstructive syndrome of the upper airways). (AU)
Subject(s)
Humans , Female , Pregnancy , Fraser Syndrome/diagnosis , Autopsy , Fetal Diseases , Rare Diseases/diagnosis , Syndactyly , Genetic Diseases, Inborn/diagnosisABSTRACT
Fraser syndrome or cryptophthalmos-syndactyly syndrome is a rare genetic disease, the diagnosis of which is based on a series of major and minor clinical criteria and that can be supported by genetic tests. This article presents the case of a fetal autopsy at 37 weeks of gestation with suspicion of CHAOS syndrome (congenital obstructive syndrome of the upper airways).
Subject(s)
Abnormalities, Multiple , Fraser Syndrome , Humans , Pregnancy , Female , Fetus , Autopsy , Rare DiseasesABSTRACT
Predictive biomarkers of trabectedin represent an unmet need in advanced soft-tissue sarcomas (STS). DNA damage repair (DDR) genes, involved in homologous recombination or nucleotide excision repair, had been previously described as biomarkers of trabectedin resistance or sensitivity, respectively. The majority of these studies only focused on specific factors (ERCC1, ERCC5, and BRCA1) and did not evaluate several other DDR-related genes that could have a relevant role for trabectedin efficacy. In this retrospective translational study, 118 genes involved in DDR were evaluated to determine, by transcriptomics, a predictive gene signature of trabectedin efficacy. A six-gene predictive signature of trabectedin efficacy was built in a series of 139 tumor samples from patients with advanced STS. Patients in the high-risk gene signature group showed a significantly worse progression-free survival compared with patients in the low-risk group (2.1 vs 6.0 months, respectively). Differential gene expression analysis defined new potential predictive biomarkers of trabectedin sensitivity (PARP3 and CCNH) or resistance (DNAJB11 and PARP1). Our study identified a new gene signature that significantly predicts patients with higher probability to respond to treatment with trabectedin. Targeting some genes of this signature emerges as a potential strategy to enhance trabectedin efficacy.
Subject(s)
Sarcoma , Tetrahydroisoquinolines , Antineoplastic Agents, Alkylating/pharmacology , Antineoplastic Agents, Alkylating/therapeutic use , DNA Damage , DNA Repair/genetics , Dioxoles/adverse effects , Humans , Retrospective Studies , Sarcoma/drug therapy , Sarcoma/genetics , Tetrahydroisoquinolines/adverse effects , Trabectedin/therapeutic useABSTRACT
La pancreatitis del surco representa una forma segmentaria de pancreatitis crónica que afecta la región periduodenal, entre la pared duodenal y el páncreas. Esta entidad es poco frecuente y posee ciertas características clínico patológicas que permiten identificarla preoperatoriamente. Esta condición ha recibido varios nombres entre estos: distrofia quística del páncreas heterotópico, hamartoma pancreático del duodeno, quiste paraduodenal y mioadenomatosis del páncreas. Presentamos dos casos de pancreatitis del surco en piezas de duodenopancreatectomía en hombres de 39 y 50 años, ambos bebedores de alcohol. Los estudios de imagen mostraron en ambos lesiones quísticas intrapancreáticas. Histológicamente se observó engrosamiento de la mucosa duodenal, hiperplasia severa de las glándulas de Brunner, proliferación miofibroblástica con formaciones quísticas, entremezclada con tejido pancreático e inflamación crónica. Esta entidad entra en el diagnóstico diferencial de las lesiones pseudotumorales pancreáticas que pueden simular carcinoma(AU)
Groove pancreatitis is a form of chronic segmental pancreatitis affecting the periduodenal region between the duodenum and the head of the páncreas. This uncommon entity has distinct clinicopathological features which facilitate its preoperative diagnosis. It is also been known as cystic dystrophy in heterotopic páncreas, pancreatic hamartoma of the duodenum, paraduodenal cyst and adenomyomatosis of the páncreas. We present two cases of groove pancreatitis in adult males aged 39 and 50, both alcohol drinkers, who had undergone pancreatoduodenectomy. Imaging studies showed cystic intrapancreatic lesions. Histologically, a large duodenal wall with prominent myofibroblastic proliferation and cysts admixed with pancreatic tissue and cronic inflammation was seen. Groove pancreatitis may be confused with carcinoma(AU)
Subject(s)
Humans , Male , Adult , Middle Aged , Pancreatitis/pathology , Brunner Glands/pathology , Pancreatic Neoplasms/pathology , Pancreatectomy/methods , Pancreatectomy/trends , Pancreaticoduodenectomy/methods , Pancreaticoduodenectomy/trends , Pancreatic Ducts/pathology , Diagnosis, Differential , Granuloma, Plasma Cell/pathology , Duodenal Diseases/pathology , Duodenal Neoplasms/pathologyABSTRACT
El carcinoma intraductal de glándula salival mayor es un tumor agresivo tanto clínica como citológicamente. En glándula salival menor, son muy raros y a pesar de tener una citología agresiva son tumores con buen comportamiento clínico. Presentamos un caso en paladar blando, fácilmente diagnosticable por la presencia de abundantes células mioepiteliales que rodean conductos con células epiteliales grandes, atípicas, con mitosis y necrosis. Un año después de la extirpación permanece asintomático
Intraductal carcinoma of major salivary gland is a very agressive neoplasm in clinical and cytological grounds. In minor salivary gland it´s very rare and have a good clinical evolution irrespective of the cytological agressivity. We report a case in soft palate, without diagnostics problems by the easy demonstration of myoepithelial cells around all epithelial units.The epithelial cells are large, atypical with mitosis and necrosis.A year later the patient is well
