Airborne Sound Power Levels and Spectra of Noise Sources in Port Areas.

Airborne port noise has historically suffered from a lack of regulatory assessment compared to other transport infrastructures. This has led to several complaints from citizens living in the urban areas surrounding ports, which is a very common situation, especially in countries facing the Mediterranean sea. Only in relatively recent years has an effort been made to improve this situation, which has resulted in a call for and financing of numerous international cooperation research projects, within the framework of programs such as EU FP7, H2020, ENPI-CBC MED, LIFE, and INTERREG.

SPG6 (NIPA1 variant): A report of a case with early-onset complex hereditary spastic paraplegia and brief literature review.

SPG6, caused by NIPA1 (nonimprinted in Prader-Willi/Angelman syndrome) gene pathogenic variants, is mainly considered as a pure autosomal dominant hereditary spastic paraplegia (AD-HSP), even if descriptions of complex cases have also been reported. We detected the common c.316G > A, p.

Beneficial effects of the ketogenic diet on drug-resistant epileptic encephalopathy associated with a de novo NBEA pathogenic variant.

Although neurobeachin (NBEA) de novo genetic variants have been mainly reported in patients with neurodevelopmental disorders (NDD), they have also been recently associated with early childhood epilepsy. We report an 11-year-old boy who was first evaluated at 34 months of age because of drug-resistant epileptic encephalopathy. He also had developmental delay and prominent autistic features.

Further delineation of PIGB-related early infantile epileptic encephalopathy.

Pathogenic variants in phosphatidylinositol glycan anchor biosynthesis class B (PIGB) gene have been first described as the cause of early infantile epileptic encephalopathy 80 (EIEE-80) in 2019. This disorder, an inherited glycosylphosphatidylinositol deficiency, is associated with a complex neurologic phenotype, including developmental delay, early-onset epilepsy and peripheral neuropathy. We report on a 5 year-old girl born from consanguineous parents, manifesting severe global developmental delay with absent speech, mixed peripheral polyneuropathy, hypotonia, bilateral equino-varo-supinated-cavus foot, early-onset scoliosis, elevated serum alkaline phosphatase and a single episode of febrile status epilepticus.

Paediatric-onset hereditary spastic paraplegias: a retrospective cohort study.

Aim: To describe the clinical and neurogenetic spectrum of paediatric-onset hereditary spastic paraplegias (HSPs) diagnosed in our unit.

Method: We report on 47 patients (30 males, 17 females; mean [SD] age 12y 7mo [6y 2mo], range 4-34y) clinically diagnosed with an HSP at the Child Neurology Unit, IRCCS-ASMN (Reggio Emilia, Italy) between 1990 and 2018, who were genetically investigated by means of single-gene direct sequencing and/or next-generation sequencing technologies (targeted panels, whole-exome sequencing [WES]).

Results: Complex forms prevailed slightly (n=26), autosomal dominant being the main inheritance pattern (n=11), followed by recessive (n=5) and X-linked (n=1).