Congenital Hyperinsulinism of a Large Italian Cohort: A Retrospective Study.

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 Gesù from 1985 to 2022.

Results: Hypoglycemia occurred within the first year of life in 85.

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

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 neurological impairment and neurobehavioral problems, even though surgically treated with a near-total pancreatectomy.

Evaluation of E-Health Applications for Paediatric Patients with Refractory Epilepsy and Maintained on Ketogenic Diet.

E-health technologies improve healthcare quality and disease management. The aim of this study was to develop a ketogenic diet management app as well as a website about this dietary treatment and to evaluate the benefits of giving caregivers access to various web materials designed for paediatric patients with refractory epilepsy. Forty families participated in the questionnaire survey, from January 2016 to March 2016.

Dietary practices in methylmalonic acidaemia: a European survey.

Background The dietary management of methylmalonic acidaemia (MMA) is a low-protein diet providing sufficient energy to avoid catabolism and to limit production of methylmalonic acid. The goal is to achieve normal growth, good nutritional status and the maintenance of metabolic stability. Aim To describe the dietary management of patients with MMA across Europe.

Chronic liver involvement in urea cycle disorders.

The increased survival of urea cycle disorders (UCDs) patients has led the attention to clinical manifestations that characterize the long-term disease course. Acute and chronic liver disease have been anecdotally reported since the very first description of UCDs. However, a detailed analysis of long-term liver involvement in large patient cohorts is still needed.

Weaning practices in phenylketonuria vary between health professionals in Europe.

Background: In phenylketonuria (PKU), weaning is considered more challenging when compared to feeding healthy infants. The primary aim of weaning is to gradually replace natural protein from breast milk or standard infant formula with solids containing equivalent phenylalanine (Phe). In addition, a Phe-free second stage L-amino acid supplement is usually recommended from around 6 months to replace Phe-free infant formula.

Early feeding practices in infants with phenylketonuria across Europe.

Background: In infants with phenylketonuria (PKU), dietary management is based on lowering and titrating phenylalanine (Phe) intake from breast milk or standard infant formula in combination with a Phe-free infant formula in order to maintain blood Phe levels within target range. Professionals use different methods to feed infants with PKU and our survey aimed to document practices across Europe.

Methods: We sent a cross sectional, survey monkey® questionnaire to European health professionals working in IMD.

International practices in the dietary management of fructose 1-6 biphosphatase deficiency.

Background: In fructose 1,6 bisphosphatase (FBPase) deficiency, management aims to prevent hypoglycaemia and lactic acidosis by avoiding prolonged fasting, particularly during febrile illness. Although the need for an emergency regimen to avoid metabolic decompensation is well established at times of illness, there is uncertainty about the need for other dietary management strategies such as sucrose or fructose restriction. We assessed international differences in the dietary management of FBPase deficiency.

Dietary practices in propionic acidemia: A European survey.

Background: The definitive dietary management of propionic acidaemia (PA) is unknown although natural protein restriction with adequate energy provision is of key importance.

Aim: To describe European dietary practices in the management of patients with PA prior to the publication of the European PA guidelines.

Methods: This was a cross-sectional survey consisting of 27 questions about the dietary practices in PA patients circulated to European IMD dietitians and health professionals in 2014.

Dietary practices in isovaleric acidemia: A European survey.

Background: In Europe, dietary management of isovaleric acidemia (IVA) may vary widely. There is limited collective information about dietetic management.

Aim: To describe European practice regarding the dietary management of IVA, prior to the availability of the E-IMD IVA guidelines (E-IMD 2014).

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

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 energy substrates (glucose, lactate and ketones), and can lead to severe neurological sequelae.

How strict is galactose restriction in adults with galactosaemia? International practice.

Dietary management of 418 adult patients with galactosaemia (from 39 centres/12 countries) was compared. All centres advised lactose restriction, 6 restricted galactose from galactosides ± fruits and vegetables and 12 offal. 38% (n=15) relaxed diet by: 1) allowing traces of lactose in manufactured foods (n=13) or 2) giving fruits, vegetables and galactosides (n=2).

Dietary management of urea cycle disorders: European practice.

Background: There is no published data comparing dietary management of urea cycle disorders (UCD) in different countries.

Methods: Cross-sectional data from 41 European Inherited Metabolic Disorder (IMD) centres (17 UK, 6 France, 5 Germany, 4 Belgium, 4 Portugal, 2 Netherlands, 1 Denmark, 1 Italy, 1 Sweden) was collected by questionnaire describing management of patients with UCD on prescribed protein restricted diets.

Results: Data for 464 patients: N-acetylglutamate synthase (NAGS) deficiency, n=10; carbamoyl phosphate synthetase (CPS1) deficiency, n=29; ornithine transcarbamoylase (OTC) deficiency, n=214; citrullinaemia, n=108; argininosuccinic aciduria (ASA), n=80; arginase deficiency, n=23 was reported.

Cognitive findings and behavior in children and adolescents with phenylketonuria.

Objective: The primary aim of this study was to assess cognitive development, in particular that of executive functions (EFs), and behavioral findings for patients with early treated phenylketonuria (PKU). Furthermore, we evaluated the relationships of our findings with plasma levels of Phe and adherence to dietary prescriptions.

Methods: A cross-sectional design was adopted.

Ketogenic diet in early myoclonic encephalopathy due to non ketotic hyperglycinemia.

Non ketotic hyperglycinemia is a rare inborn error of glycine metabolism due to deficient activity of glycine cleavage system, a multienzymatic complex consisting of four protein subunits: the P-protein, the H-protein, the T-protein and the L-protein. The neonatal form of non ketotic hyperglycinemia presents in the first days of life with encephalopathy, seizures, multifocal myoclonus and characteristic "hiccups". Rapid progression may lead to intractable seizures, coma and respiratory failure requiring mechanical ventilation.

Preemptive liver transplantation in a child with familial hypercholesterolemia.

Familial hypercholesterolemia is an autosomal codominant disorder associated with markedly elevated plasma concentration of LDL-cholesterol and increased cardiovascular risk. Homozygous patients have rapid development of atherosclerosis with death from cardiovascular disease even in childhood. Life-long recurrent apheresis to reduce plasma LDL-cholesterol is considered the gold standard for treatment.

A giant planet orbiting the 'extreme horizontal branch' star V 391 Pegasi.

After the initial discoveries fifteen years ago, over 200 extrasolar planets have now been detected. Most of them orbit main-sequence stars similar to our Sun, although a few planets orbiting red giant stars have been recently found. When the hydrogen in their cores runs out, main-sequence stars undergo an expansion into red-giant stars.

Nature of monster sawteeth and their relationship to Alfven instabilities in tokamaks.

A correlation is explored between the presence of energetic particle modes (EPM) and long-period sawtooth oscillations in tokamak plasmas heated by rf waves. The eventual crash of these sawteeth is explained in terms of the loss of the stabilizing fast particles due to the EPM. The absence of long-period sawteeth in high q(a) discharges is explained in terms of ion loss due to toroidal Alfven eigenmodes.

Diffusion of ketoprofen from coprecipitates through a non porous lipidic membrane.

The effect of inclusion with beta-cyclodextrin or hydroxypropyl beta-cyclodextrin on the diffusion kinetics of Ketoprofen through a non porous lipidic membrane was analyzed starting from different dermal bases: a Carbopol gel, o/w emulsion and a fatty ointment. A constant diffusive gradient was achieved with the included forms at each concentration of the active principle in the vehicle. This suggests that the complex controls the diffusable form, according to its stability constant.

Coaxial lower hybrid plasma source.

We report the development of a coaxial radio frequency plasma source capable of producing pulsed plasmas of moderately high density (10(13)-10(14) cm(-3)). This device may be useful either as a general purpose laboratory plasma source or as an auxilliary source for a variety of fusion applications, such as providing target plasmas for mirror machines or producing cold plasma blankets to help isolate the hot plasma core of a toroidal plasma from the walls.