Sabrina Leo

A new case of malonic aciduria with a presymptomatic diagnosis and an early treatment

Malonyl-CoA decarboxylase deficiency (MLYCD) is a rare autosomal recessive inborn error of metabolism presenting a variable clinical phenotype. We report an affected Italian male receiving an early diagnosis (8days after birth) and a timely dietary therapy (high carbohydrate, low long chain fatty acid and medium chain triglyceride supplemented diet with l-carnitine supplementation). The boy was born at term and presented normal function of the heart (except for a tricuspid Ebstein-like dysplasia) and neurodevelopmental status. Genomic sequencing of MLYCD gene revealed two point mutations (c.672G>A, c.869C>T) not listed in the Human MLYCD Allelic Variant Database nor in Human Gene Mutation Database, responsible for a deleterious effect on protein structure and function according to a computational analysis (MuPro, SIFT, ConSEQ v1.1). At the age of 2years he only showed a mild language and psychomotor delay, while heart functioning became normal. Brain MRI examination was normal. Thirty-five cases, including our patient, have been described to date. This is the first report concerning a malonic aciduria patient diagnosed on newborn screening and treated in a presymptomatic stage of the disease.

IT Governance: Who Cares More? First Evidence from EU Banks and Supervisors

This chapter analyses IT governance disclosure for a sample of 12 EU banks (from Italy, Germany, France and Spain) to observe if, how and where banks report on their IT governance issues and to verify if after the crises, banks have started to pay more attention to IT governance. Since IT governance (like other aspects of banking business) can be influenced by the regulatory environment we examine whether any differences in Supervisors’ attitude to IT issues induce differences in IT governance across countries. Regarding IT governance transparency, as a key mechanism of corporate governance, we: i) outline an original IT governance framework; ii) perform a content analysis on banks public disclosure and a selected number of Supervisors’ official documents (2008–2015) to build up IT governance indices; and iii) run a multidimensional analysis to detect causal relationships between variables.

Mapping Microcredit Institutions/Operators: A Comparative Analysis

The microcredit sector developed in the early 1990s under the impulse of the national legislator and the international aid programme.’ The existence of Apex organizations for centralizing international aid and redistributing funds has probably improved international donors’ participation (Allaire et al., 2009). In fact, financial contributions by international agencies EIB and USAID2 were the key for the growth of the microcredit industry in Morocco.

The Microcredit Guarantee Funds an Institutions. A Comparative Analysis

Credit guarantee schemes are one option to facilitate microenterprises and SME’s in accessing the credit market. The credit guarantee schemes represent a vast and heterogeneous number of realities worldwide, usually classified into two main categories: guarantee companies (or institutions) and guarantee programmes.