Results 31 to 40 of about 146,784 (300)

FBN1 polymorphisms in patients with the dilatative pathology of the ascending thoracic aorta [PDF]

open access: yesEuropean Journal of Cardio-Thoracic Surgery, 2015
To investigate polymorphisms of the fibrillin-1 (FBN1) gene (namely, rs2118181, rs1036477, rs10519177, rs755251 and rs4774517) in a case-control study for dilatative pathology of the ascending thoracic aorta (DPATA) from Lithuanians.We studied 312 patients who had undergone aortic reconstructive surgery for DPATA.
Lesauskaitė, Vaiva   +8 more
openaire   +3 more sources

Novel ATP2A2 Gene Mutation c.118G>A Causing Keratinocyte and Cardiomyocyte Disconnection in Darier Disease

open access: yesBiomedicines
Darier disease (DD) is an autosomal dominant disorder due to pathogenic variants of the ATP2A2 gene that causes an isolated skin manifestation based on keratinocyte disconnection and apoptosis.
Andrea Frustaci   +8 more
doaj   +1 more source

Papillary in situ and intramucosal adenocarcinoma of the lower third of common bile duct. A report and review of the literature

open access: yesAnnals of Hepatology, 2015
We report the case of a 37-year-old woman with no relevant medical history. She was admitted to the hospital for epigastric pain related with food intake for 4 days; the pain did not improve with symptomatic management. A laparoscopic cholecystectomy due
Eduardo E. Montalvo-Javé   +6 more
doaj   +1 more source

Válvula aórtica cuadricúspide. Presentación de dos casos

open access: yesCirugía Cardiovascular, 2022
Resumen: La válvula aórtica cuadricúspide es una malformación congénita infrecuente. Aproximadamente la mitad de los casos publicados han sido intervenidos quirúrgicamente.
Víctor Novoa   +5 more
doaj   +1 more source

Autophagy and mitophagy in pancreatic β‐cell homeostasis and their involvement in diabetes pathophysiology

open access: yesFEBS Letters, EarlyView.
This review focuses on the role of autophagy and mitophagy in maintaining pancreatic β‐cell function and homeostasis. We discuss how genetic defects affecting these pathways contribute to the development of type 1, type 2, monogenic, and gestational diabetes. We further explore their potential as therapeutic targets. Created in BioRender.
Yunkyeong Lee   +2 more
wiley   +1 more source

Minimal dilatation in Penner's construction [PDF]

open access: yes, 2017
For all orientable closed surfaces, we determine the minimal dilatation among mapping classes arising from Penner’s construction.
Liechti, Nicola Livio
core   +1 more source

Biliary Cystadenocarcinoma Associated with Atrophy of the Left Hepatic Lobe and Hepatolithiasis Mimicking Intrahepatic Cholangiocarcinoma: A Case Report

open access: yesKaohsiung Journal of Medical Sciences, 2004
Biliary cystadenocarcinoma and its benign counterpart, biliary cystadenoma, are rare hepatic cystic tumors arising from the hepatobiliary epithelium. We report the case of a 68-year-old Taiwanese woman who presented initially with acute cholangitis.
Chang-An Tseng
doaj   +1 more source

CHRONIC DUODENAL DILATATION [PDF]

open access: yesArchives of Surgery, 1920
Chronic duodenal dilatation is a frequent pathologic condition. This assertion is based, not alone on clinical observations, but also on the well known anatomic faults of the adult human duodenum. Normally the human duodenum has practically no mesentery; it is fixed dorsally by an abundant retroperitoneum, is indented in front and behind by blood ...
openaire   +2 more sources

Lysyl oxidase (LOX)‐mediated remodeling of the extracellular matrix

open access: yesFEBS Letters, EarlyView.
The lysyl oxidase (LOX) family of enzymes drives extracellular matrix remodeling by oxidizing collagen, elastin, and fibronectin, promoting covalent cross‐link formation. This activity regulates tissue architecture and mechanical properties, while its dysregulation contributes to fibrosis, cardiovascular disease, glaucoma, connective tissue disorders ...
Fernando Rodríguez‐Pascual   +3 more
wiley   +1 more source

A Case of Esophageal Intramural Pseudodiverticulosis

open access: yesGut and Liver, 2011
Esophageal intramural pseudodiverticulosis (EIP) is a rare benign disease that is characterized by multiple tiny flaskshaped outpouching lesions of the esophageal wall. The etiology is unknown, but the pathologic fi ndings include dilatation of excretory
doaj   +1 more source

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