A novel insertion mutation (A169i) in the CLN1 gene is associated with infantile neuronal ceroid lipofuscinosis in an Italian patient

Infantile neuronal ceroid lipofuscinosis (INCL) is a progressive encephalopathy characterized by psychomotor deterioration, early visual loss, and an evanishing EEG. Mutations in the CLN1 gene encoding palmitoyl-protein thioesterase (ppt) have been reported in all Finnish INCL patients and in several non-Finnish North European patients. No cases have been contributed from the Mediterranean area thus far. We identified a single adenine insertion at nucleotide position 169 (A169i) in the CLN1 gene in a family in which the proband suffered from an INCL-like syndrome. The novel mutation was homozygous in blood from the proband, heterozygous in his healthy parents, and not found in control alleles. The mutation leads to an early stop codon resulting in an abnormal and truncated ppt protein. Our observations provide the first molecular characterization of an Italian INCL patient and expand the list of the known defects in INCL.     

Identification and characterization of human cDNAs specific to BCS1, PET112, SCO1, COX15, and COX11, five genes involved in the formation and function of the mitochondrial respiratory chain

With a growing number of economic evaluations being conducted alongside trials, there is a need to address, and if necessary, investigate the generalizability of results derived from trials. This paper explores the generalizability of costs from a trial investigating the frequency of breast cancer screening in the United Kingdom.     

Mechanical and Electric Control of Photonic Modes in Random Dielectrics

Random dielectrics defines a class of non‐absorbing materials where the index of refraction is randomly arranged in space. Whenever the transport mean free path is sufficiently small, light can be confined in modes with very small volume. Random photonic modes have been investigated for their basic physical insights, such as Anderson localization, and recently several applications have been envisioned in the field of renewable energies, telecommunications, and quantum electrodynamics. An advantage for optoelectronics and quantum source integration offered by random systems is their high density of photonic modes, which span a large range of spectral resonances and spatial distributions, thus increasing the probability to match randomly distributed emitters. Conversely, the main disadvantage is the lack of deterministic engineering of one or more of the many random photonic modes achieved. This issue is solved by demonstrating the capability to electrically and mechanically control the random modes at telecom wavelengths in a 2D double membrane system. Very large and reversible mode tuning (up to 50 nm), both toward shorter or longer wavelength, is obtained for random modes with modal volumes of the order of few tens of (λ/n)³.