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Phenotypical Characterization of Gastroenterological and Metabolic Manifestations in Patients With Williams-Beuren Syndrome.

Am J Med Genet A

January 2025

Gastroenterology and Endoscopy Unit, Fondazione IRCCS Ca' Granda Ospedale Maggiore Policlinico, Milan, Italy.

Gastrointestinal (GI) symptoms are common in patients with Williams-Beuren syndrome (WBS), but their prevalence and possible causes are not yet fully known. This study assessed GI symptoms' prevalence and their possible origin by performing a predefined set of tests in adult WBS patients. Laboratory tests and a questionnaire were administered to assess GI symptoms and dietary habits.

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Necrotizing wound infections are potentially lethal complications of surgeries, including cesarean deliveries. A 32-year-old female with obesity and hidradenitis suppurativa (HS) underwent uncomplicated cesarean section. Four days later, she developed abdominal pain and imaging showed ascites; she was treated with antibiotics.

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Background: The deep inferior epigastric perforator (DIEP) flap is universally considered the gold standard technique for breast reconstruction (BR), though it cannot always be proposed to patients with insufficient donor-site volume. We explore the efficacy of autologous fat transfer (AFT) of the Holm abdomen zone IV in the retropectoral plane during DIEP flap reconstruction (lipo-DIEP flap), to enhance the volume provided by the abdominal donor site in patients with low body mass index (BMI).

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In recent years, minimally invasive breast surgery (MIBS) has revolutionized breast cancer treatment, allowing for preservation of aesthetic outcomes while ensuring oncological safety. However, this has created a new challenge in maintaining optimal visualization and dexterity during microvascular anastomosis which is critical for successful autologous tissue reconstruction. Traditional retractors often limit maneuverability, potentially impacting the outcomes of anastomotic procedures.

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Since abdominal adhesion are quite problematic in abdominal and pelvic surgery, the conventional HA/CMC film are commonly used as an anti-adhesive material. However, such types are difficult to be rolled and delivered through the port of laparoscopic surgical devices due to adherence to the laparoscopic port or other parts of the films. To create an anti-adhesion film with more favorable handling properties and anti-adhesive effect, we developed a novel punctate uneven gelatin film (PU GF).

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