Stefania Caviglia

Congenital Hyperinsulinism of a Large Italian Cohort: A Retrospective Study

Francesco Tagliaferri, Roberta Iannuzzi, Gabriele Canciani, Silvia Maria Bernabei et autres

INTRODUCTION: To evaluate and describe the diagnostic process, medical, nutritional, and surgical approach, and neurological outcome, we report data from a large Italian cohort of patients with congenital hyperinsulinism (CHI). METHODS: We retrospectively analyzed 154 CHI patients admitted to Ospedale Pediatrico Bambino …

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Availability of psychological resources for parents receiving communication of positivity at newborn screening for metabolic diseases in Italy

Marco Bani, Stefania Caviglia, Giulia Bensi, Mirsada Sarah Carcereri et autres

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Availability of psychological resources for parents receiving a communication of positivity at newborn screening for metabolic diseases in Italy

Marco Bani, Stefania Caviglia, Giulia Bensi, Mirsada Sarah Carcereri et autres

Abstract Receiving communication of positivity at the expanded newborn screening (ENBS) for metabolic diseases is a stressful event in the case of confirmation of positive or false-positive cases. The availability of psychological support to families is crucial across the different communication steps …

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The impact of liver transplantation on health‐related quality of life in (acute) intoxication‐type inborn errors of metabolism

Benedetta Greco, Stefania Caviglia, Diego Martinelli, Teresa Grimaldi Capitello et autres

Organic acidurias (OAs), urea-cycle disorders (UCDs), and maple syrup urine disease (MSUD) belong to the category of intoxication-type inborn errors of metabolism (IT-IEM). Liver transplantation (LTx) is increasingly utilized in IT-IEM. However, its impact has been mainly focused on clinical outcome measures …

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Correction: Expert opinion of an Italian working group on the assessment of cognitive, psychological, and neurological outcomes in pediatric, adolescent, and adult patients with phenylketonuria

Filippo Manti, Stefania Caviglia, Chiara Cazzorla, Annamaria Dicintio et autres

Following publication of the original article [1], we have been notified that Table 2, column “Pediatric Patient” should be corrected as per below: DGS (Forward and Reverse) Also, reference 40 should be as follows: 40. Quinn J, Georgiadis A, Lewis HB, Jurecki …

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Neurologic outcome following liver transplantation for methylmalonic aciduria

Diego Martinelli, Giulio Catesini, Benedetta Greco, Alessia Guarnera et autres

Liver and liver/kidney transplantation are increasingly used in methylmalonic aciduria, but little is known on their impact on CNS. The effect of transplantation on neurological outcome was prospectively assessed in six patients pre- and post-transplant by clinical evaluation and by measuring disease …

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Expert opinion of an Italian working group on the assessment of cognitive, psychological, and neurological outcomes in pediatric, adolescent, and adult patients with phenylketonuria

Filippo Manti, Stefania Caviglia, Chiara Cazzorla, Annamaria Dicintio et autres

Phenylketonuria (PKU) is an inherited metabolic disease characterized by a defective conversion of phenylalanine (Phe) to tyrosine, potentially leading to Phe accumulation in the brain. Dietary restriction since birth has led to normal cognitive development. However, PKU patients can still develop cognitive …

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Ketogenic diet as elective treatment in patients with drug-unresponsive hyperinsulinemic hypoglycemia caused by glucokinase mutations

Arianna Maiorana, Stefania Caviglia, Benedetta Greco, Paolo Alfieri et autres

BACKGROUND: Hyperinsulinemic hypoglycemia (HI) is the most frequent cause of recurrent hypoglycemia in children. Despite diagnostic and therapeutic advances, it remains an important cause of morbidity, leading to neurological complications, such as psychomotor retardation and epilepsy. Patients with diffuse drug-unresponsive HI manifest …

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Abstract GS3-01: A randomized placebo controlled phase III trial of low dose tamoxifen for the prevention of recurrence in women with operated hormone sensitive breast ductal or lobular carcinoma in situ

Andrea DeCensi, Matteo Puntoni, Franca Avino, Laura Cortesi et autres

Abstract Background: Tamoxifen is an effective drug for breast cancer prevention and treatment, but the risk of endometrial cancer and venous thromboembolism has limited its broader use. We have repeatedly shown in biomarker trials that the minimal effective dose of tamoxifen is …

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Multidisciplinary Approach

Andrea Bartuli, E Bertini, F Callea, M Cappa et autres

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Does The Frequency of Enzymatic Replacement Therapy Influence Patients’ Level of Adaptive Functioning?

Stefania Caviglia, Ambra Bottari, Paola Bazzu, Federica Deodato et autres

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Ketogenic diet in a patient with congenital hyperinsulinism: a novel approach to prevent brain damage

Arianna Maiorana, Lucilla Manganozzi, Fabrizio Barbetti, Silvia Maria Bernabei et autres

BACKGROUND: Congenital hyperinsulinism (CHI) is the most frequent cause of hypoglycemia in children. In addition to increased peripheral glucose utilization, dysregulated insulin secretion induces profound hypoglycemia and neuroglycopenia by inhibiting glycogenolysis, gluconeogenesis and lipolysis. This results in the shortage of all cerebral …

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