Publications by authors named "Francesco D'Aniello"

Purpose: To evaluate the safety and long-term efficacy of stapled transanal rectal resection (STARR) combined with the transverse perineal support (TPS) procedure in the surgical treatment of obstructed defecation syndrome (ODS) associated with internal rectal prolapse and excessive perineal descent (PD).

Methods: This multicenter observational case-control study involved 7 European centers. During the initial study period, patients underwent STARR alone (group 1), while in the subsequent period, patients received STARR combined with TPS (group 2).

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Cystic fibrosis (CF) is a multi-system disorder characterized by chronic respiratory failure, malnutrition, and impaired growth. Achieving linear growth above the 50th percentile is associated with better pulmonary outcomes. Since October 2022, Elexacaftor/Tezacaftor/Ivacaftor (ETI) has been approved in Italy for children aged ≥6 years.

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Alterations in the low-density lipoprotein receptor-related protein 5 (LRP5) gene have been associated with primary osteoporosis, leading to recurrent low-trauma fractures. Heterozygous carriers typically show a milder phenotype, with reduced bone mass starting in early childhood. In this paper, we described the clinical features and therapeutic outcomes of a cohort of 7 children (5 males) harboring different variants in the LPR5 gene.

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Craniopharyngiomas are frequently diagnosed during childhood and adolescence, crucial periods for physical and psychosocial development. Despite improvements in survival rates, patients with childhood-onset craniopharyngioma face a wide array of lifelong complications, which emerge or worsen during adolescence, complicating the transition to adult care. Nevertheless, the transition age (15-25 years) remains an understudied phase in clinical practice.

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Study Question: Are recombinant FSH (rFSH) and hCG effective therapies for promoting testicular growth and spermatogenesis in male adolescents and young adults with gonadotropin deficiency?

Summary Answer: Combined gonadotropin therapy is effective in inducing puberty and promoting spermatogenesis in male adolescents and young adults with gonadotropin deficiency and has the potential to improve adult outcomes relating to both fertility and quality of life.

What Is Known Already: Deficiency of pituitary gonadotropins (LH and FSH) due to hypogonadotropic hypogonadism (HH) can result in poor testicular development, low testicular volumes, micropenis and cryptorchidism. Inadequate hormonal replacement can lead to long-term issues, including subfertility or infertility, and reduced quality of life.

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Context: Congenital hypogonadotropic hypogonadism (CHH) is defined as an isolated deficiency of gonadotropin hormones. Mini-puberty, a transient postnatal activation of the hypothalamic-pituitary-gonadal axis in healthy infants, provides a window of opportunity to diagnose and treat CHH. Currently, in male infants with CHH, testosterone is used to increase phallus size.

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Article Synopsis
  • Precocious puberty occurs when secondary sexual traits appear before age 8 in girls and 9 in boys, with central precocious puberty (CPP) being a rare type linked to early hormonal activation.
  • A new case of an 8-year-old girl showed a specific genetic change in the DLK1 gene, leading to advanced puberty and related health issues like obesity and insulin problems.
  • The findings emphasize the need for ongoing health monitoring in children with DLK1 mutations, highlighting a trend of metabolic issues such as obesity and irregular cholesterol levels in affected individuals.
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Introduction: Growth patterns in Noonan syndrome (NS) remain relatively unknown. The objective of this study was to provide growth reference curves for patients with NS and identify correlations between their growth, genotype, and clinical features.

Methods: This was a 15-year-long, monocentric, observational, retrospective, non-interventional study.

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Neurofibromatosis type 1 (NF1) is a genetic multisystemic autosomal dominant disorder determining reduced life expectancy due to higher risk of developing benign and malignant tumors. Low levels of vitamin D and reduced bone mineral density (BMD) have been reported in young patients with NF1. However, correlation between vitamin D and NF1 phenotype needs to be elucidated.

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Anti-reflux surgery is an effective treatment for gastroesophageal reflux disease (GERD). Nevertheless, surgery is still indicated with great caution in relation to the risk of complications, and in particular to postoperative dysphagia (PD). To compare the clinical outcomes, with particular focus on the incidence and severity of PD, of laparoscopic Nissen-Rossetti fundoplication (NRF) and floppy Nissen fundoplication (FNF) with complete fundus mobilization, in the surgical treatment of GERD.

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Objective: To review systematically community-based primary care interventions for epilepsy in low- and middle-income countries to rationalize approaches and outcome measures in relation to epilepsy care in these countries.

Methods: A systematic search of PubMed, EMBASE, Global Index Medicus, CINAHL, and Web of Science was undertaken to identify trials and implementation of provision of antiseizure medications, adherence reinforcement, and/or health care provider or community education in community-based samples of epilepsy. Data on populations addressed, interventions, and outcomes were extracted from eligible articles.

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Background: After initial enthusiasm in the use of a dedicated curved stapler (CCS-30 Contour Transtar) to perform stapled transanal rectal resection (STARR) for obstructed defecation syndrome (ODS), difficulties have emerged in this surgical technique.

Objective: First, to compare surgeons' perception of difficulties of STARR performed with only Transtar versus STARR performed with the combined use of linear staplers and Transtar to cure ODS associated with large internal prolapse and rectocele; second, to compare the postoperative incidence of the urge to defecate between the 2 STARR procedures.

Design And Setting: An Italian multicenter randomized trial involving 25 centers of colorectal surgery.

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Background: We hypothesized that pathological perineal descent may be responsible for the failure of operations for obstructed defecation syndrome and that correcting excessive perineal descent may improve the outcome in this group of patients.

Objective: The purpose of this study was to report the short-term preliminary results of a novel surgical procedure, transverse perineal support, for the correction of pathological perineal descent.

Design: This was a prospective, uncontrolled, open-label study.

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Objective. This study was designed to evaluate the early results of the topical application of Hydrolyzed Hibiscus esculentus Extract 3% ointment (Myoxinol 3%), a novel local product with Botox-like activity, in the conservative treatment of chronic anal fissure (CAF). Methods.

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Purpose: The aim of this study was to evaluate the accuracy of tridimensional endoanal ultrasound (3D-EAUS) in the diagnosis of perianal sepsis comparing the results with the surgical findings, considered as reference standard.

Methods: From January 2009 to January 2013, all the patients referred for the assessment and treatment of perianal sepsis with suspected anorectal origin were enrolled in the study. All patients gave informed written consent.

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The use of a dedicated score represents an essential tool for the clinical staging of obstructed defecation syndrome (ODS), for subsequent diagnostic and therapeutic options, and for the evaluation of the results. This study was designed to develop and validate a new, simple, and disease-specific scoring system for ODS. The questionnaire consists of 5 items: excessive straining, incomplete rectal evacuation, use of enemas and/or laxatives, vaginal-anal-perineal digitations, and abdominal discomfort and/or pain.

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Purpose: This multicenter randomized study was designed to compare the clinical and functional results of stapled transanal rectal resection (STARR) performed with 2 staplers (PPH-01 vs. PPH-03) in the treatment of hemorrhoidal disease associated with a large internal rectal prolapse.

Methods: From a total of 937 patients, referred for hemorrhoidal disease in the 20 centers involved in the study, 425 (45.

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Background: Stapled transanal rectal resection has become the primary surgical procedure for surgical treatment of obstructed defecation syndrome caused by rectocele or rectal intussusception. The procedure is generally performed with 2 circular staplers. Recently, a dedicated contour-curved stapler was developed.

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Recently, the incidence of gastric cancer and the related percentage of mortality have been decreasing world-wide, especially in the industrialised countries. Surgery has commonly been opted for as primary treatment of this disease. However, the optimal extent of surgical intervention is still debated.

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Thyroid goiter is called plunged when, starting from the cervical region, it grows in the anterior-superior mediastinum to a depth of more than 2 cm. The highest frequency (48.44%) is evident in the age range from 60 to 70.

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