Allele frequency of muscular genetic disorders in bull-catching (vaquejada) quarter horses.

Quarter horses (QH), a prominent athletic breed in Brazil, are affected by muscular genetic disorders such as myosin-heavy chain myopathy (MYHM), polysaccharide storage myopathy (PSSM1), hyperkalemic periodic paralysis (HyPP), and malignant hyperthermia (MH). Bull-catching (vaquejada), primarily involving QH, is a significant equestrian sport in Brazil. Since the allele frequencies (AF) of MYHM, PSSM1, HyPP, and MH in vaquejada QH remain unknown, this study evaluated the AF in 129 QH vaquejada athletes, specifically from the Brazilian Northeast. These variants were exclusively observed in heterozygosity. The MYHM exhibited the highest AF (0.04 ±0.01), followed by PSSM1 (0.01 ±0.01) and the HyPP variant (0.004 ±0.01), while the MH variant was not identified in this study. This study represents the first identification of these variants in vaquejada QH, emphasizing the need to implement measures to prevent the transmission of pathogenic alleles and reduce the occurrence of clinical cases of these genetic diseases.

IN VIVO public monitoring in emergency exposure scenarios by means of spectrometric and non-spetrometric devices.

In a nuclear or radiological accident scenario, when potentially members of the public can undergo internal contamination by anthropogenic radionuclides released in the atmosphere, effective methods that can be used directly in the field to perform a fast scan for internal contamination on a large number of individuals can play a major role to undertake appropriate countermeasures. Specific attention should be paid to the individual monitoring of children since they constitute the sensitive population group with the highest risk of developing cancer. At the ENEA Casaccia Research Center in Rome (Italy), monitoring procedures based on a portable HPGe detector and ratemeters were tested in the field. A total of 170 acquisitions of uncontaminated volunteers for the blank measurements were collected, 105 acquisitions on adult and 65 acquisitions on 10-y/o children. The detection limit calculation, in terms of activity taken up (Bq), was carried out according to the Standard ISO's 11929 and 28218, whereas the corresponding 'minimum effective dose' (mSv) was calculated based on international commission on radiological protection (ICRP) Publications 134, 137 and 141. Results and evaluations of the measurement campaign are presented and discussed in respect to the aspects reported in the current literature.

Large-scale individual monitoring of internal contamination by gamma-emitting radionuclides in nuclear accident scenarios.

The results obtained in a measurement campaign concerning internal contamination by the gamma-emitting radionuclides of a large number of individuals are presented in this work. The aim is to assess the effectiveness of the spectrometric method in an emergency response following a nuclear power plant accident or a spread of radionuclides in the atmosphere due to an act of terrorism. An HPGe portable spectrometer, deployed in a collective protection apparatus, was used for both whole-body and thyroid measurements. An adult bottle mannequin absorption (BOMAB) and thyroid phantoms were used to evaluate the detector performance. The BOMAB phantom was provided by the Italian Institute of Ionizing Radiation Metrology (INMRI) for the ENEA intercomparison exercise. Thyroid phantoms were provided by the Belgian Nuclear Research Centre for the 'Child and Adult Thyroid Monitoring After Reactor Accident' European intercomparison exercise. The instrument performance was further evaluated by collecting spectral data from healthy volunteers, using acquisition times of 180 s and 100 s, respectively, for the whole-body and thyroid measurements. The detector showed good accuracy in quantifying radionuclide activities in the adult BOMAB and in the thyroids of persons of all ages. The proposed method allows us to detect in vivo activity leading to a committed effective dose E(50) and committed thyroid equivalent doses H T greater than 2 mSv due to all gamma-emitting fission products, if the scan is performed within five days after intake. Assuming, for instance, an acute inhalation of 137Cs and 131I, the obtained detection limit values for adults lead to a E(50) value equal to 0.08 mSv and an H T value of 0.27 mSv. The E(50) and H T values show that the proposed method can be successfully used when the dose assessment must be rapidly performed for a large number of individuals in the eventuality of the scenarios previously mentioned.

Large-scale individual thyroid monitoring following nuclear accidents by means of non-spectrometric devices.

In order to properly respond to an emergency caused by an accident in a nuclear power plant with a spread of radionuclides in the atmosphere, we propose a field procedure to perform a large-scale individual thyroid monitoring of internal contamination due to inhalation of 131I, by means of non-spectrometric equipment, in particular dose rate meters. Specific attention is paid to the individual monitoring of children, because of the very high radiosensitivity of the child's thyroid to the carcinogenic effects of ionising radiation. The device performance was evaluated by measuring mock iodine sources provided in the Child and Adult Thyroid Monitoring After Reactor Accident (CAThyMARA) intercomparison and, just for a scintillator dose rate meter, by means of 60 s acquisitions of healthy volunteers' thyroids. All the devices showed a remarkable accuracy in quantification of equivalent 131I activity in the thyroids of persons of all ages. The selected scintillator dose rate meter showed detection limit values resulting in a maximum committed equivalent dose to thyroid HT, assuming an acute 131I inhalation occurred five days before the measurement, equal to 10 mSv (related to five-year-old children). Considering the level of HT values associated with the calculated detection limit activities, the proposed procedure has a significant sensitivity to be used for fast internally thyroid monitoring in nuclear or radiological emergencies, allowing daily monitoring a large amount of individuals.

Experimental search for the violation of Pauli exclusion principle: VIP-2 Collaboration.

The VIolation of Pauli exclusion principle -2 experiment, or VIP-2 experiment, at the Laboratori Nazionali del Gran Sasso searches for X-rays from copper atomic transitions that are prohibited by the Pauli exclusion principle. Candidate direct violation events come from the transition of a 2p electron to the ground state that is already occupied by two electrons. From the first data taking campaign in 2016 of VIP-2 experiment, we determined a best upper limit of [Formula: see text] for the probability that such a violation exists. Significant improvement in the control of the experimental systematics was also achieved, although not explicitly reflected in the improved upper limit. By introducing a simultaneous spectral fit of the signal and background data in the analysis, we succeeded in taking into account systematic errors that could not be evaluated previously in this type of measurements.

[The effect of two different methods of heel lancing on pain reaction in preterm neonates]. / L'efficacia di due diversi presidi per il controllo del dolore da puntura del tallone nel neonato pretermine.

Heel lancing is the most used method to obtain a blood sample in newborn and pre-term infants. The effectiveness on pain reduction of a new lancet, Tenderfoot was compared against the traditional Lancetta, randomizing 40 preterm newborns to have the heel lanced with one of the two instruments and observing overall 76 blood sampling episodes. Newborns were observed at baseline, when disinfected, during and at the end of the blood sampling procedure. Statistically different behavioural responses to the pain of the puncture were observed during the blood sampling, in the 'recovery time' after the procedure and in the number of pricks performed. When the Tenderfoot was used, less children cried during the first 5 seconds after the prick. The Tenderfoot is effective in reducing the heel prick pain, allows an easier collection of the blood, a reduction of the time necessary and of the need of squeezing the heel, therefore reducing the bruises and pain related to the squeezing itself. According to our data, its use is recommended for the obtainment of large quantities of blood, and in the severely ill newborns, that need frequent blood monitoring and several pricks. These characteristics render its use debatable because of the costs and of the bleeding for blood exams that require limited amount of blood (blood glucose, blood gas analysis) until its effects on the scarring time and outcome will be documented.