Publications by authors named "Erika Ortolan"

Background: The introduction of adjuvant therapies for patients with resected cutaneous melanoma (CM) has increased the need for sensitive biomarkers for risk stratification and disease monitoring. This study aims to investigate the utility of circulating tumor DNA (ctDNA) assessment in predicting and reflecting disease status during adjuvant therapy.

Methods: We enrolled 32 patients with resected BRAF-mutated stage III CM receiving adjuvant targeted therapy or immunotherapy.

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Background: Hirschsprung's disease (HD) is a congenital malformation of the enteric nervous system clinically manifested by intestinal obstruction in the neonatal period or severe constipation in childhood. Several surveys on HD have been conducted to evaluate experiences in its management around the world. For the first time in Brazil, we analyze and report the management patterns of HD among pediatric surgeons in Brazil.

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Objective: The analysis of abdominal radiography is essential for the diagnosis and management of necrotizing enterocolitis (NEC) in newborns (NB). Studies, however, show a lack of agreement among physicians in the interpretation of images. This study aims to evaluate the agreement in the radiological interpretation of the NEC between examiners from different specialties (interexaminer analysis) and between the same examiner at different times (intraexaminer analysis).

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As far as we know, no report uses the Swenson transanal endorectal pull-through technique in an animal model. Our objective is to describe the use of this technique as an experimental model for training and research purposes. Ten Norfolk hybrid rabbits were randomly selected from our experimental laboratory, with a mean weight of 3539.

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Background: Functional constipation can lead to painful defecations, fecal incontinence, and abdominal pain, significantly affecting a child's quality of life. Treatment options include non-pharmacological and pharmacological approaches, but some cases are intractable and require alternative interventions like neuromodulation. A subtype of neuromodulation, called Transcutaneous Posterior Tibial Nerve Stimulation (TPTNS), comprises electrical stimulation at the ankle level, by means of electrodes fixed to the skin.

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Introduction: Intestinal neuronal dysplasia type B (IND-B) is a controversial entity that affects the submucosal nerve plexus of the distal intestine. The lack of definition of the causal relationship between histological findings and clinical symptoms has been identified as the primary point to be elucidated in the scientific investigation related to IND-B, which is essential for it to be considered a disease.

Objective: To investigate the relationship between histopathological findings and symptoms in a series of patients with IND-B.

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Article Synopsis
  • - ELOVL5, a protein in the endoplasmic reticulum, plays a crucial role in elongating long-chain fatty acids, and a specific mutation (p.G230V) in this protein is linked to Spinocerebellar Ataxia subtype 38 (SCA38), a neurodegenerative disorder.
  • - The study found that while ELOVL5 activity remains normal in the presence of the mutation, SCA38 patient-derived cells exhibited reduced ELOVL5 expression, enlarged Golgi complexes, and increased protein degradation compared to healthy controls.
  • - Structural analysis revealed that the mutation alters a critical intramolecular disulfide bond, suggesting that SCA38 involves both loss of function due to
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Introduction: Constipation is a disorder with a multifactorial origin. Constipation has a varied clinical presentation, including infrequent defecation of bulky stools and episodes of retentive fecal incontinence. Neuromodulation has been used to treat many health problems, with promising results.

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Introduction: Some studies have shown poor agreement between intraoperative and histopathological classifications for appendicitis, despite their routine use in clinical practice.

Objective: To investigate the agreement between histopathological and intraoperative classifications for pediatric appendicitis and evaluate the predictive potential of these classifications for the post-operative outcome.

Methods: A retrospective, longitudinal, observational single-center study, carried out with 485 patients up to15 years of age, with a confirmed diagnosis of acute appendicitis by histopathological evaluation.

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Background: Reports on the expression of CD38 in Sézary syndrome (SS), erythrodermic primary cutaneous T cell lymphoma with leukemic involvement, are limited. The aim of the present study is the analysis of the expression of CD38 by skin-infiltrating mononuclear cells and circulating T lymphocytes in a cohort of SS patients.

Methods: SS patients diagnosed since 1985 in our clinic were retrospectively analyzed for CD38 expression in biopsy and blood samples by immunohistochemistry and flow cytometry, respectively.

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Sézary syndrome is a rare subtype of cutaneous T-cell lymphoma characterized by erythroderma, peripheral lymphadenopathies, and circulating atypical cerebriform T-cells. To date, no definite staging system has been developed for these patients. In this retrospective analysis of the archive of the Dermatological Clinic of the University of Turin, Italy, erythrodermic SS patients were classified according to clinical records and photographs into three main presentations: erythematous, infiltrated, or melanodermic.

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CD157/BST-1 (a member of the ADP-ribosyl cyclase family) is expressed at variable levels in 97% of patients with acute myeloid leukemia (AML), and is currently under investigation as a target for antibody-based immunotherapy. We used peripheral blood and bone marrow samples from patients with AML to analyse the impact of CD157-directed antibodies in AML survival and in response to cytarabine (AraC) ex vivo. The study was extended to the U937, THP1 and OCI-AML3 AML cell lines of which we engineered CD157-low versions by shRNA knockdown.

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Article Synopsis
  • The Amsterdam Infant Stool Scale (AISS) was created in 2009 to help evaluate stool characteristics in infants up to 120 days old, but it needs to be translated and adapted for Brazilian Portuguese for local use.
  • A structured methodology was followed for this translation and adaptation process, which included multiple steps such as backtranslation and pre-testing, to ensure the new version is accurate and culturally relevant.
  • Results showed that the translated AISS has good reliability and validity, with moderate to substantial agreement among examiners when analyzing stool photographs of infants, indicating it can be effectively used in clinical and research settings in Brazil.
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The diagnosis of Hirschsprung disease (HD) depends on the histopathological analysis of rectal biopsies. This review aims to define the best rectal biopsy technique. A systematic literature review and proportional meta-analysis of the available case series studies of rectal biopsies were performed in this study.

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Introduction: Transcutaneous parasacral nerve stimulation (TPNS) via electrodes placed over the sacrum can activate afferent neuronal networks noninvasively, leading to sacral reflexes that may improve colonic motility. Thus, TPNS can be considered a promising, noninvasive, and safe method for the treatment of constipation. However, there is no published study investigating its use in children with functional constipation.

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Purpose: To evaluate bone formation through ultrastructural analysis around titanium implants in severe alloxanic uncontrolled diabetic rats, and controlled with insulin, in comparison with nondiabetic rats.

Methods: Thirty-six male Wistar rats, weighing between 200 and 300 g, divided into three experimental groups: normal control group (G1), a diabetic group without treatment (G2), and a diabetic group treated with insulin (G3). The animals received titanium implants in the right femur, and osseointegration was evaluated at 7, 14, and 21 days after surgery, through ultrastructural analysis using scanning electron microscopy.

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Article Synopsis
  • - The study examined long-term outcomes for patients with intestinal neuronal dysplasia type B (IND-B), comparing conservative and surgical treatment methods over at least five years.
  • - A total of 50 patients participated, where 38 had surgery and 12 were treated conservatively; results indicated that conservative treatment led to significantly better bowel function and fewer symptoms.
  • - The findings suggest that conservative management is more effective in achieving favorable outcomes in children with IND-B than surgical interventions.
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Little attention has been given to the efficiency and validity of performing routine endoscopic biopsies in normal areas in children. This study aimed to investigate the need to perform routine biopsies in upper gastrointestinal endoscopy (UDE) and colonoscopy in normal areas by comparing macroscopy and histology. It was a 10-year retrospective analysis with the inclusion of 761 UDEs and 177 colonoscopies.

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Background: Eighty percent of caustic ingestions occur in children and esophageal neoplasms may develop as a late complication of such injury. The identification of biomarkers is a promising strategy to improve early diagnosis of esophageal cancer or caustic lesions that are at an increased risk of progression.

Study Design/aims: This study aimed at identifying global microRNA (miRNA) expression changes in esophageal mucosa from children with caustic stenosis.

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Human CD157/BST-1 and CD38 are dual receptor-enzymes derived by gene duplication that belong to the ADP ribosyl cyclase gene family. First identified over 30 years ago as Mo5 myeloid differentiation antigen and 10 years later as Bone Marrow Stromal Cell Antigen 1 (BST-1), CD157 proved not to be restricted to the myeloid compartment and to have a diversified functional repertoire ranging from immunity to cancer and metabolism. Despite being a NAD-metabolizing ectoenzyme anchored to the cell surface through a glycosylphosphatidylinositol moiety, the functional significance of human CD157 as an enzyme remains unclear, while its receptor role emerged from its discovery and has been clearly delineated with the identification of its high affinity binding to fibronectin.

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This study proposed to determine global microRNA (miRNA) expression and miRNA-regulated pathways in Intestinal Neuronal Dysplasia type B (IND-B). Fifty patients (0-15 years old) with IND-B were included in the study. Peripheral blood samples were collected from all 50 patients and from 10 healthy asymptomatic children (controls).

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Introduction: A vast majority of children with functional constipation respond to the standard medical treatment. However, a subset of patients may present with an unsatisfactory response and only minor improvement of symptoms. Transcutaneous posterior tibial nerve stimulation (PTNS) involves electrical stimulation of the posterior tibial nerve at the level of the ankle, transcutaneously through electrodes fixated on the overlying skin.

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Objective: to evaluate the applicability of the "Timing of Acute Care Surgery" (TACS) color classification system in a tertiary public hospital of a developing country.

Methods: we conducted a longitudinal, retrospective study in a single center, from March to August 2016 and the same period in 2017. We opted for the selection of four surgical specialties with high demand for emergencies, previously trained on the TACS system.

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