Design and Implementation of a Wireless In-Ovo EEG/EMG Recorder

The developmental origins of sleep and brain activity rhythms in higher vertebrate animals (birds and mammals) are currently unknown. In order to create an experimental system in which these could be better elucidated, we designed, built and tested a system for recording EEG and EMG signals in-ovo from chicken embryos incubated for 16–21 days. This system can remain attached to the individual subject through the process of hatching and continue to be worn post-natally. Electrode wires surgically implanted on the head of the embryo are connected to a battery-operated ultraportable transmitter which can either be attached to the eggshell or worn on the back. The transmitter processes up to 6 channels of data with a maximum sampling frequency of 500 Hz and a resolution of 12 bits. The radio link uses a carrier frequency of 4 MHz, and has a maximum transfer rate of 500 kbit/s; receiving antennas compatible with both in-egg recordings and post-natal recordings from freely-moving birds were produced. A receiver connected with one USB port of a PC transmits the data for digital storage. This system is based on discrete, off-the-shelf components, can provide a few days of continuous operation with a single lithium coin battery, and has a noise floor level of 0.35u V. The transmitter dimensions are 16 x 13 x1.5 mm and the weight without the battery is 0.7 g. The microprocessor allows flexible operation modes not usually made available in other small multichannel acquisition systems implemented by means of ad hoc mixed signal chips

Missense mutations in the COL4A5 gene in patients with X-linked Alport syndrome

no abstrac

Missense mutations in the COL4A5 gene in patients with X-linked Alport syndrome.

No abstract available

Missense mutations in the COL4A5 gene in patients with X-linked Alport syndrome.

No abstract available

Unbiased next generation sequencing analysis confirms the existence of autosomal dominant Alport syndrome in a relevant fraction of cases.

The mode of inheritance of Alport syndrome (ATS) has long been controversial. In 1927, the disease was hypothesized as a dominant condition in which males were more severely affected than females. In 1990, it was considered an X-linked (XL) semidominant condition, due to COL4A5 mutations. Later on, a rare autosomal recessive (AR) form due to COL4A3/COL4A4 mutations was identified. An autosomal dominant (AD) form was testified more recently by the description of some large pedigrees but the real existence of this form is still questioned by many and its exact prevalence is unknown. The introduction of next generation sequencing (NGS) allowed us to perform an unbiased simultaneous COL4A3-COL4A4-COL4A5 analysis in 87 Italian families (273 individuals) with clinical suspicion of ATS. In 48 of them (55%), a mutation in one of the three genes was identified: the inheritance was XL semidominant in 65%, recessive in 4% and most interestingly AD in 31% (15 families). The AD form must therefore be seriously taken into account in all pedigrees with affected individuals in each generation. Furthermore, a high frequency of mutations (>50%) was shown in patients with only 1 or 2 clinical criteria, suggesting NGS as first-level analysis in cases with a clinical suspicion of ATS. \ua9 2013 John Wiley & Sons A/S