Publications by authors named "Pennisi D"

Background: There are data on the safety of cancer surgery and the efficacy of preventive strategies on the prevention of postoperative symptomatic COVID-19 in these patients. But there is little such data for any elective surgery. The main objectives of this study were to examine the safety of bariatric surgery (BS) during the coronavirus disease 2019 (COVID-19) pandemic and to determine the efficacy of perioperative COVID-19 protective strategies on postoperative symptomatic COVID-19 rates.

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Epidermal growth factor (EGF) receptors (ErbB1-ErbB4) promote cardiac development and growth, although the specific EGF ligands and receptor isoforms involved in growth/repair versus pathology remain undefined. We challenged ventricular cardiomyocytes with EGF-like ligands and observed that selective activation of ErbB4 (the receptor for neuregulin 1 [NRG1]), but not ErbB1 (the receptor for EGF, EGFR), stimulated hypertrophy. This lack of direct ErbB1-mediated hypertrophy occurred despite robust activation of extracellular-regulated kinase 1/2 (ERK) and protein kinase B.

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Article Synopsis
  • Pathogenic germline MAX variants are linked to several tumors, including pheochromocytomas (PCs) and neuroendocrine tumors in two families studied.
  • Clinical and genetic analyses revealed multiple instances of PCs and other tumors in both families, with identified MAX variants and their functional implications.
  • The findings suggest that MAX mutations are associated with a broader range of tumors, indicating a significant role in tumor development beyond just endocrine cancers.
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Background: Clinical whole exome sequencing was introduced in an Australian centre in 2017, as an alternative to Sanger sequencing. We aimed to identify predictors of cancer physicians' somatic mutation test ordering behaviour.

Methods: A validated instrument assessed somatic mutation test ordering, genomic confidence, perceived utility of tumour molecular profiling, and percent of patients eligible for targeted therapy.

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Introduction: To evaluate feasibility and safety of a totally laparoscopic transgastric resection with concomitant sleeve gastrectomy in a morbidly obese presenting with benign lesion located along the lesser gastric curvature.

Materials And Methods: We report the case of a morbidly obese patient with an incidental submucosal lesion of the lesser curvature radiologically consistent with fibrolipoma at preoperative work-up. Benign nature of the mass was then confirmed EUS-biopsy.

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Background: Enhanced Recovery After Surgery (ERAS) pathways have been shown to improve postoperative outcomes. However, its application in bariatric surgery is still limited. The aim of the study was to define the safety of ERAS in bariatric patients with regard to postoperative complications, length of hospital stay (LOS), and readmission rates within 30 days from surgery.

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Guillain-Barré syndrome (GBS) is considered to have an immune-mediated basis, but the genetic contribution to GBS is unclear. We conducted a GWAS involving 215 GBS patients and 1,105 healthy controls. No significant associations of individual SNPs or imputed HLA types were observed.

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The development and growth of the vertebrate ocular lens is dependent on the regulated proliferation of an anterior monolayer of epithelial cells, and their subsequent differentiation into elongate fiber cells. The growth factor rich ocular media that bathes the lens mediates these cellular processes, and their respective intracellular signaling pathways are in turn regulated to ensure that the proper lens architecture is maintained. Recent studies have proposed that Cysteine Rich Motor Neuron 1 (Crim1), a transmembrane protein involved in organogenesis of many tissues, might influence cell adhesion, polarity and proliferation in the lens by regulating integrin-signaling.

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Tumor necrosis factor-α (TNF-α) inhibitors are highly effective in suppressing inflammation in ankylosing spondylitis (AS) patients, and operate by suppression of TFN-α and downstream immunological pathways. To determine the mechanisms of action of TNF-α inhibitors in AS patients, we used transcriptomic and bioinformatic approaches on peripheral blood mononuclear cells from AS patients pre and post treatment. We found 656 differentially expressed genes, including the genome-wide significant AS-associated genes, IL6R, NOTCH1, IL10, CXCR2 and TNFRSF1A.

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Ankylosing spondylitis (AS) is a common immune-mediated arthropathy primarily affecting the spine and pelvis. Most AS patients have subclinical intestinal inflammation, suggesting the gut microbiome and the immune response play a role in pathogenesis. Susceptibility to AS is primarily genetic, and at least 114 susceptibility variants have been identified to date.

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Endothelial cells form a critical component of the coronary vasculature, yet the factors regulating their development remain poorly defined. Here we reveal a novel role for the transmembrane protein CRIM1 in mediating cardiac endothelial cell development. In the absence of Crim1 in vivo, the coronary vasculature is malformed, the number of endothelial cells reduced, and the canonical BMP pathway dysregulated.

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Aim: The study aimed in a multicentric randomized controlled trial to define the role of a more extensive mucosal resection on recurrence of mucosal prolapse in patients with Stage III haemorrhoids undergoing stapled haemorrhoidopexy.

Method: In all, 135 patients were randomized to treatment with a PPH-01/03 (Ethicon EndoSurgery) or an EEA (Covidien) stapler. They were reviewed after a minimum follow-up of 4 years to determine the rate of recurrent mucosal prolapse and general condition (wellness evaluation score).

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The regulation of growth factor localization, availability and activity is critical during embryogenesis to ensure appropriate organogenesis. This process is regulated through the coordinated expression of growth factors and their cognate receptors, as well as via proteins that can bind, sequester or localize growth factors to distinct locations. One such protein is the transmembrane protein Crim1.

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Article Synopsis
  • - The epicardium is important for heart development, providing signals and cells that support the formation of the heart during embryonic growth; however, the specific function of the Crim1 protein in this process was previously unclear.
  • - Research using knockout mouse models shows that losing Crim1 leads to significant heart defects, including issues with the epicardium and reduced heart muscle development, and affects critical processes like cell migration and differentiation.
  • - Crim1 is essential for the proper growth and behavior of heart-related cells and may influence growth factor activity, emphasizing its crucial role in both local (cell) and distant (signal) influences on heart development.
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Background: The role of a mixture of phlebotonics in the treatment of acute hemorrhoid crisis is investigated to test their efficacy.

Methods: One hundred and thirty-four consecutive patients with an acute hemorrhoidal crisis recruited in five colorectal units entered the study. Sixty-six of them were randomized to receive a mixture of diosmin, troxerutin and hesperidin (group A), and 68 a placebo (group B).

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Background: Anal fissure (AF) is a common cause of anal pain with a tendency not to heal spontaneously because of ischemia of the anoderm caused by sphincter spasm. Lateral internal sphincterotomy, while very effective, can cause fecal incontinence and chemical sphincterotomy by application of cream may have discouraging side effects and/or low efficacy. The aim of this prospective multicenter study was to evaluate the safety and effectiveness of a new medical treatment based on Emulgel cream, with emollient, soothing and protective agents, on AF healing.

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Aim: Milligan-Morgan hemorrhoidectomy (MM) is still the most common treatment for grades III and IV hemorrhoids despite prolonged post-operative anal pain and wound healing. This multicenter, double blind, randomized, controlled trial was designed to assess the safety and the efficacy of anal wound cleansing with Triclosan (Proctocid®) in the control of symptoms and healing time after MM.

Methods: A total of 113 patients with grades III and IV hemorrhoids, undergoing open hemorroidectomy by diathermy or Ligasure vessel sealing device, were randomly assigned to Triclosan or sodium hypochlorite solution.

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Crim1 is a transmembrane protein that regulates the bioavailability of growth factors such as VEGFA. Crim1(KST264)(/)(KST264) hypomorphic mice develop renal disease characterized by glomerular cysts and loss of endothelial integrity, progressing to peritubular and pericystic fibrosis. Peritubular capillary endothelial cells display morphological changes as well as detachment from the basement membrane.

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Crim1 is a developmentally expressed, transmembrane protein essential for normal embryonic development. We generated mice engineered to contain a Crim1 conditional null allele by flanking exons three and four of Crim1 with unidirectional LoxP sites. After crossing Crim1+/FLOX mice with a CMV-Cre line, a Crim1+/Δflox colony was established after germline transmission of the deleted allele.

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Normal placental development and function is essential for fetal growth of eutherian mammals. Mutational studies have shown that numerous growth factors are required for placental development and differentiation of placental lineages. Here, using a gene-trap mutant mouse line, Crim1(KST264), we show that Crim1 is essential for murine placental development.

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