Publications by authors named "Amber Famiglietti"

Women with germline pathogenic variants in CDH1, which encodes E-cadherin protein, are at increased lifetime risk of invasive lobular carcinoma (ILC). The associated tumor characteristics of hereditary lobular breast carcinoma (HLBC) in this high-risk population are not well-known. A single-center prospective cohort study was conducted to determine the imaging and pathologic features of HLBC compared to population-based ILC using Surveillance, Epidemiology, and End Results (SEER) data.

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Article Synopsis
  • Loss of function variants in the CDH1 gene are a major cause of hereditary diffuse gastric cancer, making early detection challenging with traditional endoscopy due to the cancer's infiltrative nature.
  • This study involved 270 asymptomatic patients with pathogenic CDH1 variants who underwent endoscopic screening at the National Institutes of Health, focusing on the safety and effectiveness of detecting gastric signet ring cell carcinoma.
  • The findings, gathered from 467 endoscopies between January 2017 and December 2021, contribute to understanding endoscopic surveillance's role in monitoring individuals at high risk for gastric cancer.
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Introduction: Patients with germline variants in CDH1 who undergo prophylactic total gastrectomy (TG) are at risk of altered nutrient and drug absorption due to modified gastrointestinal anatomy. Bone mineral density loss and micronutrient deficiencies have not been described previously in this patient population.

Methods: In this study we included 94 patients with germline CDH1 variants who underwent prophylactic TG between October 2017 and February 2022.

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Background: Esophageal perforation is a serious and potentially life-threatening medical emergency. Given multiple etiologies and varying clinical presentations of the perforated esophagus, the diagnosis is commonly delayed, complicating expeditious and optimal intervention.

Methods: We thoroughly reviewed the latest literature on the subject and herein describe the various treatment strategies in varying settings.

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Background: Nipple-sparing mastectomy (NSM) offers improved aesthetics without compromising oncologic safety. Subpectoral breast reconstruction has long been standard practice, although prepectoral reconstruction has recently resurged in popularity. Due to this recent paradigm shift, studies comparing long-term outcomes by reconstructive plane are lacking.

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The rising popularity of e-cigarettes and vaping, particularly in youth populations, has prompted the scientific community to ocassionally recommend their use as alternative to smoking or as a modality for smoking cessation. Media also tends to portray them as stylish, smoking cessation tools. We first studied the current literature to better understand whether they are viable options for surgeons to use prior to surgery as part of their armamentarium and their efficacy in attaining smoking abstinence.

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Background: Cannabis is the most commonly used illicit substance in the United States. As cannabis use rises in popularity and its legalization continues to expand, the scientific community must address the controversy between beneficial and adverse effects of cannabis consumption.

Methods: We performed a comprehensive literature review to study the medicinal and pathologic effects of cannabis use, with emphasis on its association with cancer pathophysiology and thoracic surgery.

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Anastomotic leak is one of the most feared complications of esophagectomy, leading to prolonged hospital stay, increased postoperative mortality, and additional cost both to the patient and the hospital. Historically, anastomotic leaks have been treated with several techniques including conservative measures, percutaneous or operative drainage, primary surgical repair with buttressing, T-tube drainage, or excision of the esophageal replacement conduit with end esophagostomy. With advances in treatment modalities, including endoscopic stenting, clips and suturing, endoluminal vacuum-assisted closure (EVAC), such leaks increasingly are being managed without operative re-intervention and with salvage of the esophageal replacement conduit.

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Mucin-type O-glycosylation is a ubiquitous posttranslational modification in which N-Acetylgalactosamine (GalNAc) is added to the hydroxyl group of select serine or threonine residues of a protein by the family of UDP-GalNAc:Polypeptide N-Acetylgalactosaminyltransferases (GalNAc-Ts; EC 2.4.1.

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Background: Genomic analysis has upended chordate phylogeny, placing the tunicates as the sister group to the vertebrates. This taxonomic rearrangement raises questions about the emergence of a tunicate/vertebrate ancestor.

Results: Characterization of developmental genes uniquely shared by tunicates and vertebrates is one promising approach for deciphering developmental shifts underlying acquisition of novel, ancestral traits.

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