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 abstract available

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

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

Patterns of care in patients discharged from acute psychiatric inpatient facilities

Objective: To analyze the characteristics of patients scheduled for discharge from acute psychiatric inpatient facilities in Italy, and their pattern of care. Methods: Socio-demographic and clinical characteristics, and patterns of care of 1,330 patients discharged from public and private inpatient facilities in Italy were assessed with a standardized methodology during an index period in the year 2004. Results: About one half of the samplehad schizophrenia or bipolar disorder. However, the case-mix differed between public and private facilities, where in-patients had more frequently mood and anxiety disorders. The use of two or more drugs was very common, involving more than 90% of patients and including typically benzodiazepines and antipsychotics. Structured psychosocial treatments were rarely initiated during the hospital stay. Increasing age, male gender, long stay in the facility (>60 days), personality disorder and type of facility were associated with a higher likelihood of being discharged to a community residential facility. Predictors of discharge to another psychiatric facility were increasing age, being single, schizophrenia, personality disorder and organic mental disorder. Families were not involved in decisions about patients' discharge in a significant proportion of cases. University psychiatric clinics and private facilities were less coordinated with the community system of care than General Hospital Psychiatric Units. Referral of patients with substance use disorder to drug addiction services occurred in just 30% of subjects. Conclusions: This study provides information on the characteristics and the pattern of care of patients discharged from inpatient facilities in a country that has closed down all its mental hospitals. This information may be relevant for those countries that are affording now the downsizing of MHs, and the expansion of community-based models of care. \ua9 Steinkopff Verlag Darmstadt 2009

Drug prescription in Italian Residential Facilities [La prescrizione di psicofarmaci nelle Strutture Residenziali Italiane]

Aims - To investigate in a representative national sample (N=2,962) of patients living in Residential Facilities (RFs) patterns of polypharmacy as well as related variables, association between diagnoses and therapeutic patterns, and the rate of adverse events. Methods - Structured interviews focusing on each patient were conducted by trained research assistants with the manager and staff of each RF. Patients were rated with the HoNOS and the SOFAS, and comprehensive information about their sociodemographic and clinical status, and their pharmacological regimes were collected. Results - Conventional antipsychotics and second-generation antipsychotics were prescribed to 65% and 43% of the sample, respectively. Benzodiazepines were prescribed to two-thirds of the sample, while antidepressants were the least-used class of psychotropics. Polypharmacy was common: on average, each treated patient was taking 2.7 drugs (\ub11.1); antipsychotic polypharmacy was also common. Many prescriptions were loosely related to specific diagnoses. Antiparkinsonianian drugs were prescribed to approximately 1/4 of the sample. Mild or severe adverse events in the previous month were reported for 9.9% and 1.4% of the sample, respectively. About 15% of patients suffered from tardive dyskinesia. Conclusions - Psychotropic drug prescription patterns for severe patients living in RFs are only sometimes satisfactory and offer the opportunity of improvement. Specific actions are required to improve prescription patterns for severe patients in RFs