María Fernanda Boidi

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Mitochondrial diseases are a group of clinically heterogeneous disorders that can be difficult to diagnose. We report a two and a half year old girl with clinical symptoms compatible with Leigh disease but with no definitive diagnosis. Using next generation sequencing we found that mutation 3697G>A was responsible for the patient's clinical symptoms.(More)
BACKGROUND Environmental factors are important causes of sensitization, even though the effect of specific pollutants and the interaction between pollution and aeroallergens are not completely known. PURPOSE To evaluate whether the exposure to pollutants or to allergens is a more important contributing factor in causing sensitization. METHODS A group of(More)
BACKGROUND Cannabis Social Clubs (CSCs) are a model of non-profit production and distribution of cannabis among a closed circuit of adult cannabis users. CSCs are now operating in several countries around the world, albeit under very different legal regimes and in different socio-political contexts. AIM In this paper we describe and compare the legal(More)
BACKGROUND A prevalence study regarding hospital acquired infections and particularly surgical wound infections was performed from 17-4-1995 to 17-7-1995 in the Voghera hospital, a large one in Northern Italy. METHODS The records of all subjects who have operated since at least 24 hours have been checked and the surgical wounds have been classified(More)
BACKGROUND In 2013, Uruguay became the first country to fully regulate the cannabis market, which now operates under state control. Cannabis can be legally acquired in three ways: growing it for personal use (self-cultivation), cannabis club membership, and from pharmacies (not yet implemented). Users must be entered into a confidential official registry to(More)
INTRODUCTION AND AIMS The objective of this study was to measure the public support for marijuana legalisation in Uruguay, both overall and in its provisions, in nearly 4 years after its implementation. DESIGN AND METHODS Three separate cross-national surveys were conducted in early 2014, late 2015 and mid-2017 with national representative samples of(More)
Results of surgical and endoscopic treatment in 79 patients (58 females and 21 males, age 40-89, mean 62), affected with jaundice, due to secondary choledochal lithiasis, are reported. Thirty-four patients (43%) underwent surgical operation: choledochotomy and T-tube 12, choledocho-jejunostomy 4, choledochoduodenostomy 3, papillosphincteroplasty 15. In 45(More)
Despite the advances made in the field of genetics, neuroimaging and metabolic diseases, half the children with mental retardation remain without an aetiological diagnosis. A genetic base is estimated to be present in 40% of cases, environmental teratogens and prematurity in 20%, metabolic diseases in 1-5% and multifactor causes in 3-12%. The family(More)
Seasonal prevalence survey of Hospital Acquired Infections (HAI) is the cheaper and easiest way for nosocomial infections surveillance. Our study was carried-out in February 2002 in the COF. The mean prevalence rate of HAI was 11.2%, representative of trouble that HAI had in the Italian Hospital landscape.