RUGGIERI M.

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Mitochondrial DNA depletion syndromes are an important cause of mitochondrial cytopathies in both children and adults. We describe a newborn with multiple congenital malformations including a right aberrant subclavian artery and a trachea-oesophageal fistula in whom mitochondrial depletion syndrome was unmasked by perioperative muscle...

The terms "pseudotumor cerebri" and "benign intracranial hypertension," respectively, introduced by Nonne in 1904 and Foley in 1955, were originally used to describe patients with raised intracranial pressure in whom no tumor was found and whose course was considered to be relatively benign. In the modern era of medicine, the natural history of...

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The current spectrum of disorders associated to clinical spasms with onset in infancy is wider than previously thought; accordingly, its terminology has changed. Nowadays, the term Infantile spasms syndrome (ISs) defines an epileptic syndrome occurring in children younger than 1 year (rarely older than 2 years), with clinical (epileptic: i.e.,...

We report on the use of the voltage-gated calcium channel blocker (Vg-CCB), verapamil, as an add-on anticonvulsant medication in two girls, 4 and 14 years of age, who were affected by severe myoclonic epilepsy in infancy (SMEI) or Dravet syndrome, a channelopathy caused by abnormalities in the voltage-gated sodium channel neuronal type α1...

In our paper we report a brief history of the X-rays discovery and discuss the implications of their use and abuse in the Italian pedriatic schools of the early 20th century. Indeed, history of the X-ray treatment in the Italian Pediatric School has not yet been well studied. Even if the scientific experience of many physicians is well known in...

Neurological involvement is a typical feature of several inherited metabolic diseases. The onset of signs and/or symptoms may appear as early as the first days of life or after an interval of normal or near-normal growth and development. Metabolic decomposition usually presents with a severe clinical phenotype, which include poor feeding,...

Pseudotumor cerebri syndrome (PTCS) is a condition characterized by raised cerebrospinal fluid pressure in the setting of evidently normal brain parenchyma and stable composition of the cerebrospinal fluid. The pathophysiology of this syndrome is complex and not yet fully understood. Idiopathic intracranial hypertension (IIH), which is the...

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The neuronal ceroid lipofuscinoses (NCLs) are a heterogeneous group of inherited, progressive neurodegenerative diseases. Manifestations may begin between the neonatal period and young adulthood, depending on the various subtypes. The different phenotypes are similar and include visual loss, seizures, loss of motor and cognitive function, and...

This article aims at introducing to the readers of the AES Magazine the recently constituted technical panel: Glue Technologies for Space Systems. A short overview of the technologies considered in the panel will be provided, along with panel vision and perspectives shared with the founder members. Some information about panel meetings and...

Anderson-Fabry disease (AFD) is an X-linked lysosomal storage disorder caused by mutations in the a-galactosidase A gene on chromosome Xq22, resulting in a-galactosidase A enzyme deficiency. It is characterized by progressive accumulation of lipids (e.g., globotriaosylceramide) in the lysosomes of a variety of cell types, including neural...

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Gaucher disease (GD) has been classically divided into three phenotypes primarily according to the absence (type 1 GD or nonneuronopathic GD) or presence and severity (types 2 and 3 GD or neuronopathic GD) of neurological involvement. Despite such distinction, neurological manifestations have been recorded also in patients with type 1 GD: in...

The mucopolysaccharidoses (MPSs) are a group of rare lysosomal storage disorders caused by deficiency of enzymes catalyzing the stepwise degradation of glycosaminoglycans dermatan sulfate, heparan sulfate, keratan sulfate, chondroitin sulfate, and hyaluronic acid. There are seven groups of MPS, which are MPS-I (MPS-I-H or Hurler syndrome;...

Cobalamin C (Cbl-C) defects are inherited autosomal recessive disorders of vitamin B-12 (or cyanocobalamin [CNCbl]) metabolism. These defects are caused bymutations in the methylmalonic aciduria and homocystinuria Cbl-C type (MMACHC; MIM # 609831) gene located on chromosome 1p34.1, which catalyzes the reductive decyanation of CNCbl, thus...

Hyperphenylalaninemia (HPA) is a biochemical condition characterized by mildly or strongly elevated concentrations of the amino acid phenylalanine (Phe) in the blood. HPA is commonly diagnosed by newborn screening. The primary cause of HPA is phenylketonuria (PKU), an inborn error of metabolism characterized by persistently elevated plasma...