PRICKLE1-related early onset epileptic encephalopathy

The PRICKLE1 (Prickle Planar Cell Polarity Protein 1-MIM 608500) gene is involved in different phases of human development. The related diseases include autosomal recessive progressive myoclonus epilepsy - ataxia syndrome, neural tube defects associated with heterozygous mutations, agenesis of corpus callosum, polymicrogyria, and autistic spectrum disorder. Reported here is a young boy with a new variant (NM_153026.2:c.820G>A, p.Ala274Thr) presenting with an early infantile epileptic encephalopathy with developmental arrest

Research Notes : The monogenic and digenic control of hypocotyl and flower color in soybeans

The pigmentation of seedling hypocotyl is important in the knowledge, at a very early stage, of success in the cross of plants differing in this aspect. Several genes, among which are W1, W2, W3, W4 and wm, have been recognized as controlling flower pigmentation, and many studies indicate that flower and hypocotyl colors are closely associated. Hartwig and Hinson (1962) put in evidence that hypocotyl of W1W3W4 genotypes is darker than that of W1w3W4 ones

DNA damage induced by 7,12-dimethylbenz[a]anthracene in the liver and the mammary gland of rats exposed to polycyclic aromatic hydrocarbon enzyme inducers during perinatal life

The long-lasting modulating effect induced by the prenatal or neonatal exposure to phenobarbital (PB) and aroclor on the genotoxic activity of 7,12-dimethylbenz[a]anthracene (DMBA) in female Sprague-Dawley rats was studied. The effect was measured as DNA damage evaluated in the liver and in the mammary gland of 55-day-old animals, 4 and 24 h after an i.g. injection of 80 mg/kg of DMBA. PB was given per os, i.g. or in drinking water to pregnant females and by i.g. only to neonates or in adult progeny. Aroclor was injected i.g. in prenatal and in neonatal life, and a second dose was given in adult life. Under these experimental conditions it was shown that DNA damage kinetics caused by DMBA are modulated by exposure to PB and, to a minor extent, by aroclor. The amount and persistence of DNA damage were highest when PB was administered to neonates. An average 2-fold increase in the elution constants (K) of DNA in the liver and the mammary gland was observed 4 h after DMBA treatment, as compared to uninduced animals. Repeated enzyme induction by PB seems to reduce DMBA genotoxicity, as shown by a decrease in DNA damage and persistence in the liver and mammary gland. The inducibility of the monooxygenase enzyme system in perinatal life favouring metabolic activation of inactivation of polycyclic aromatic hydrocarbons might be critical in determining individual susceptibility of adult progeny to chemical carcinogenesis by DMB

Research Notes : Italy : Light shock in soybean plantlets?

In a new soybean breeding program, 70 cross combinations were performed between the following varieties: \u27Agripro\u27, \u27Beeson\u27, \u27Caloria\u27, \u27Corsoy\u27, \u27Extra Early\u27, \u27Mikawashima\u27, \u27Norman\u27, \u27SRF150\u27, \u27SRF307 P\u27, \u27TXK505\u27, \u27TXK.535\u27, \u27Vansoy\u27, and \u27Wells\u27. Mother plants were the varieties indicated in Table l; in this table is also reported the number of combinations involv-ing each variety used as female and the number of seeds obtained

Upper Second Molar Distalization with Clear Aligners: A Finite Element Study

Among orthodontists and scientists, in the last years, upper molar distalization has been a debated topic in the orthodontic aligner field. However, despite that few clinical studies have been published, no insights on aligners' biomechanics regarding this movement are available. The aim of this study was to assess, through finite element analysis, the force system resulting in the upper arch during second maxillary molar distalization with clear aligners and variable attachments settings. The average tooth distalization was found to be 0.029, with buccal flaring of the upper incisors in all attachment configurations. The mesial deformation of the aligner was registered to be 0.2 mm on average. Different pressure areas on the interface between aligners and upper molars were registered, with the mesial attachment surface to be directly involved when present. Periodontal ligament pressure was reported to range between 67 g/cm(2) and 132 g/cm(2). Configurations with rectangular attachments from second molar-to-canine and from first molar-to-canine present, in an in silico environment, almost equal efficiency in distalizing the upper second molar. However, attachments from the second molar to the canine are suggested to be adopted in clinical environments due to greater feasibility in everyday practice

Error-Free 10.7 Gb/s Digital Transmission over 2 km Optical Link Using an Ultra-Low-Voltage Electro-Optic Modulator

We demonstrate the feasibility of 10.7 Gb/s error-free (BER < 10-12) optical transmission on distances up to 2 km using a recently developed ultra-low-voltage commercial Electro-Optic Modulator (EOM) that is driven by 0.6 Vpp and with an optical input power of 1 mW. Given this low voltage operation, the modulator could be driven directly from the detectors’ board signals without the need of any further amplification reducing significantly the power dissipation and the material budget

Micro-beam and pulsed laser beam techniques for the micro-fabrication of diamond surface and bulk structures

Micro-fabrication in diamond is involved in a wide set of emerging technologies, exploiting the exceptional characteristics of diamond for application in bio-physics, photonics, radiation detection. Micro ion-beam irradiation and pulsed laser irradiation are complementary techniques, which permit the implementation of complex geometries, by modification and functionalization of surface and/or bulk material, modifying the optical, electrical and mechanical characteristics of the material. In this article we summarize the work done in Florence (Italy) concerning ion beam and pulsed laser beam micro-fabrication in diamond.Comment: 14 pages, 5 figure

Sonographic evaluation of subacromial space

Goal of the study. The purpose of this study is to compare the accuracy of sonographic to radiographic measurements of subacromial space, and verify its variations in relation to acromial morphology, age, sex and rotator cuff pathologies. Materials and methods. As a result, we have compared a radiographic examination to sonographic examination, each measuring the subacromial space in 200 random shoulders, with a personal method. The sonographic examination was performed by using a HDI 5000 ultrasound scanner Sono-CT with 7.5 MHz linear array transducer. No stand-off pad was utilized. Results. The statistical analysis of the data derived from the two measurements was not sufficient to conclude that the two techniques are different (p>0.8). They also correspond with the radiographic morphology of the acromion. The size of subacromial space was related to the acromial morphology, female gender, and rotator cuff pathology, however, it was not related to age. Discussion and conclusions. Our results clearly show that sonographic measurements are very close to those obtained by X-ray (p>0.8). The Bland\u2013Altman analysis showed that for all groups, the were small enough to give us confidence that the sonographic technique may be used in place of the radiographic one for clinical purposes. One-way ANOVA showed that sonographic measurements were statistically different among the four groups (p<0.05). The sonography demonstrated precision, accuracy and carefulness in the measurement of the subacromial space

Sonography in the diagnosis of tear of the knee menisci

Goal of the study. The purpose of this study is to compare the accuracy of sonographic to radiographic measurements of subacromial space, and verify its variations in relation to acromial morphology, age, sex and rotator cuff pathologies. Materials and methods. As a result, we have compared a radiographic examination to sonographic examination, each measuring the subacromial space in 200 random shoulders, with a personal method. The sonographic examination was performed by using a HDI 5000 ultrasound scanner Sono-CT with 7.5 MHz linear array transducer. No stand-off pad was utilized. Results. The statistical analysis of the data derived from the two measurements was not sufficient to conclude that the two techniques are different (p>0.8). They also correspond with the radiographic morphology of the acromion. The size of subacromial space was related to the acromial morphology, female gender, and rotator cuff pathology, however, it was not related to age. Discussion and conclusions. Our results clearly show that sonographic measurements are very close to those obtained by X-ray (p>0.8). The Bland\u2013Altman analysis showed that for all groups, the were small enough to give us confidence that the sonographic technique may be used in place of the radiographic one for clinical purposes. One-way ANOVA showed that sonographic measurements were statistically different among the four groups (p<0.05). The sonography demonstrated precision, accuracy and carefulness in the measurement of the subacromial space