Publications by authors named "Gaudi S"

Article Synopsis
  • Violence against women is a serious global problem that affects their physical and mental health, leading to issues like PTSD.
  • Scientists have studied how trauma can change genes, but there's not much research specifically on how violence against women affects these changes.
  • The article highlights the need for more studies to better understand this topic and help improve support for women affected by violence.
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Introduction: Violence against women (VAW) is a persistent global public health problem that runs across all social classes and ethnicities with a considerable negative influence on women's health and behaviour. Early detection, appropriate interventions and multidisciplinary cooperation are crucial factors in tackling gender violence.

Objectives: This note describes "The Violence against women: long-term health effects for precision prevention" transdisciplinary and multicenter project that aims to implement the National Guidelines with two sets of questions: the European Injury Database (EU-IDB) violence module and the Post-Traumatic Stress Disorder (PTSD) questionnaire for improving innovative approaches to limit the long-term health effect of VAW.

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Hansen's disease (leprosy) is a rare infectious disease with less than 300 recorded cases in the United States every year. In this report, we present an 80-year-old White male with a three-year history of slowly progressive, pink, well-demarcated, and annular patches, plaques, and papules that started on his thighs and spread to his abdomen, chest, back, and upper extremities. After sequence identification on biopsies confirmed the diagnosis of leprosy, the patient was treated with an alternative regimen of monthly moxifloxacin, rifabutin, and minocycline.

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Article Synopsis
  • * A case study discusses a 66-year-old patient who, after having gastric bypass surgery, developed NAE due to a poor diet limited to just mushroom soup for three months, without any history of hepatitis C.
  • * The patient was treated with zinc replacement after other treatments failed, and showed significant improvement at follow-up, highlighting how NAE can occur from nutritional deficiencies outside of known viral infections like HCV.
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Atorvastatin, a widely prescribed 3-hydroxy-3-methyl-glutaryl-coenzyme A reductase inhibitor (HMG-CoA reductase inhibitor), is associated with various adverse effects, including many dermatologic manifestations. We present the case of a 73-year-old man who developed eosinophilic spongiosis shortly after initiating atorvastatin therapy, an adverse effect which to our knowledge has not yet been reported in association with atorvastatin. Our investigation explores the clinical and histopathologic characteristics of eosinophilic spongiosis induced by atorvastatin, delving into potential mechanisms behind statin-induced eosinophilia.

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Background: Violence against women is a relevant health and social problem with negative consequences on women's health. The interaction between genome and environmental factors, such as violence, represents one of the major challenges in molecular medicine. The Epigenetics for WomEn (EpiWE) project is a multidisciplinary pilot study that intends to investigate the epigenetic signatures associated with intimate partner and sexual violence-induced stress-related disorders.

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Balloon cell melanoma (BCM) is a rare presentation of malignant melanoma characterized by large, foamy melanocytes lacking pigmentation. This is a comprehensive review of the clinical, dermoscopic, and histological features among BCM cases reported in the literature. A systematic review of all case reports and series published since 1970 was conducted via MEDLINE, Embase, and Web of Science, using "balloon cell melanoma" and synonymous search terms.

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A 64-year-old man was referred to our dermatology clinic with a diagnosis of Muir-Torre syndrome (MTS), he had a history of multiple sebaceous carcinomas and sebaceous adenomas removed over the years. The patient has also had visceral cancer and had undergone a colon resection 17 years before to treat colon cancer and was recently diagnosed with invasive high-grade urothelial carcinoma of the right ureter. In addition, the patient has an extensive family history of cancer; a pedigree was constructed to document this history (Figure 1).

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Climate changes affect social and environmental health determinants such as clean air, ecosystems health, safe drinking water and safe sufficient food. Globally, people at greatest risk of adverse health effects associated with climate change include children, the elderly and other vulnerable groups. Temperature-related death and illness, extreme events, polluted or stressed ecosystems represent relevant issues raising concern for both health and economic consequences.

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Background: The Italian National Institute of Health (Istituto Superiore di Sanità, ISS) considers health inequalities (HI) an important area of activity. As the scientific and technical body of the Ministry of Health and the National Health Service, ISS may play a key role to reduce HI. In order to enable ISS in addressing the new and crucial HI challenge, a Research Positioning Exercise was designed and implemented.

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The 5-α-reductase inhibitors finasteride and dutasteride are frequently used in the treatment of androgenetic alopecia and benign prostatichyperplasia. These drugs are effective at reducing levels of dihydrotestosterone, the primary androgen responsible for the pathogenesis of both these conditions. However, finasteride and dutasteride have also been shown to produce an increase in the incidence of sexual dysfunction, namely, impotence, decreased libido, and ejaculation disorder.

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A 41-year-old female presented with a pedunculated mass in the upper esophagus and bilateral lymphadenopathy. Biopsies suggested a neuroendocrine tumor, possibly carcinoid, and ensuing imaging revealed cervical lymph node metastases. The esophageal mass was removed endoscopically and discovered by pathologists to closely resemble medullary thyroid carcinoma (MTC) on immunohistochemistry staining.

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Background: Digital pathology offers numerous advantages, allowing remote information sharing using whole slide imaging (WSI) to digitize an entire glass slide (GS) at high resolution, creating a digital slide (DS).

Methods: In this study, we examine the concordance in diagnoses made on 40 digital slides (DSs) vs traditional GSs in differentiating between spongiotic dermatitis (SD) and patch/plaque-stage mycosis fungoides (MF).

Results: Greater interobserver concordance rate in final diagnosis of SD vs MF was observed with the utilization of DS (86.

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Background: The quality and limitations of digital slides are not fully known. We aimed to estimate intrapathologist discrepancy in detecting specific microscopic features on glass slides and digital slides created by scanning at ×20.

Methods: Hematoxylin and eosin and periodic acid-Schiff glass slides were digitized using the Mirax Scan (Carl Zeiss Inc.

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Epigenetic programming and reprogramming are at the heart of cellular differentiation and represent developmental and evolutionary mechanisms in both germline and somatic cell lines. Only about 2% of our genome is composed of protein-coding genes, while the remaining 98%, once considered "junk" DNA, codes for regulatory/epigenetic elements that control how genes are expressed in different tissues and across time from conception to death. While we already know that epigenetic mechanisms are at play in cancer development and in regulating metabolism (cellular and whole body), the role of epigenetics in the developing prenatal and postnatal brain, and in maintaining a proper brain activity throughout the various stages of life, in addition to having played a critical role in human evolution, is a relatively new domain of knowledge.

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Recent studies show that human-specific LINE1s (L1HS) play a key role in the development of the central nervous system (CNS) and its disorders, and that their transpositions within the human genome are more common than previously thought. Many polymorphic L1HS, that is, present or absent across individuals, are not annotated in the current release of the genome and are customarily termed "non-reference L1s." We developed an analytical workflow to identify L1 polymorphic insertions with next-generation sequencing (NGS) using data from a family in which SZ segregates.

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Transposable Elements (TEs) or transposons are low-complexity elements (e.g., LINEs, SINEs, SVAs, and HERVs) that make up to two-thirds of the human genome.

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Hyperspectral imaging (HSI) allows the identification of objects through the analysis of their unique spectral signatures. Although first developed many years ago for use in terrestrial remote sensing, this technology has more recently been studied for application in the medical field. With preliminary data favoring a role for HSI in distinguishing normal and lesional skin tissues, we sought to investigate the potential use of HSI as a diagnostic aid in the classification of atypical Spitzoid neoplasms, a group of lesions that often leave dermatopathologists bewildered.

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Article Synopsis
  • Autistic Spectrum Disorder (ASD) is influenced by genetic and environmental factors, and this study examines the role of Human Endogenous Retroviruses (HERVs) in autism.
  • Researchers evaluated the expression of specific HERV families (E, H, K, W) in blood samples from ASD patients and healthy controls, finding higher levels of HERV-H and HERV-W in patients.
  • The study suggests a unique expression pattern of HERVs in individuals with ASD and emphasizes the need for further research on HERV-H's role in the disorder.
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Background: Expert consultation and institutional policies mandating second review of pathologic diagnoses in the course of referral have been advocated to optimize patient care.

Objective: We sought to investigate the rate of diagnostic discrepancies between pathologists with and without dermatopathology fellowship training.

Methods: All available outside pathology reports were reviewed for material sent to the University of Pittsburgh Medical Center Dermatopathology Unit during 1 year.

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Schwannoma is defined as a benign nerve sheath neoplasm of Schwann cell origin. Cutaneous schwannoma typically manifests along the course of peripheral nerves as a solitary, well-defined, skin-colored nodule within the deep dermis or subcutis of the flexor aspects of the extremities. Schwannoma enlarges slowly and typically follows a benign course, with local recurrence and malignant transformation being exceedingly rare.

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Intensive research in recent years has begun to unlock the mysteries surrounding the molecular pathogenesis of melanoma, the deadliest of skin cancers. The high-penetrance, low-frequency susceptibility gene CDKN2A produces tumor suppressor proteins that function in concert with p53 and retinoblastoma protein to thwart melanomagenesis. Aberrant CDKN2A gene products have been implicated in a great many cases of familial cutaneous melanoma.

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Background: Transposable Elements (TEs) comprise nearly 45% of the entire genome and are part of sophisticated regulatory network systems that control developmental processes in normal and pathological conditions. The retroviral/retrotransposon gene machinery consists mainly of Long Interspersed Nuclear Elements (LINEs-1) and Human Endogenous Retroviruses (HERVs) that code for their own endogenous reverse transcriptase (RT). Interestingly, RT is typically expressed at high levels in cancer cells.

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