Sandro Michelini, Mrco Cardone, Paolo Maltese, Alice Bruson, Alessandro Fiorentino and Matteo Bertelli
Primary lymphedema can be familial (in which more than one member of the same family has a lymphedema phenotype), syndromic (in which lymphedema is one symptom of a complex clinical syndrome) or sporadic (in which an isolated family member has lymphedema). All types of lymphedema are determined by genetic alteration of one or more genes. Not all the genes involved are known.
MAGI is concerned with research and diagnosis of rare genetic diseases. It has been operating since 2006 in Italy and abroad. Today it has three centers in Italy, including a medical genetics laboratory specialized in next generation sequencing in Bolzano, a medical genetics laboratory specialized in MLPA in Rovereto (Trento) and a genetic diseases information center at San Felice del Benaco (Brescia). MAGI has also invested outside Italy, setting up non-profit genetics laboratories in countries such as Albania, Russia and in the near future, Kazakhstan.
One of the rarely used ways of determining the overall motion correlation time of proteins is method based on the Maxwell effect. This effect consists in the appearance of a stimulated birefringence in liquids or solutions and induced by the mechanical force like shear stress in a streamline flow. To determine the overall motion correlation time for protein in dilute solution is sufficient to know the molecular mass and the ratio of the principal axes of protein, and an intrinsic viscosity. The intrinsic viscosity has been measured using an Ubbelohde-type capillary microviscometer immersed in a water-bath controlled thermostatically in the range from 5°C to 45°C for six mammalian albumins. To check the influence of solution pH on the overall motion correlation time the intrinsic viscosity value of the human serum albumin in solutions at the isoelectric point and beyond of it was measured. The thus obtained correlation times were compared with the times determined on the basis of the Debye-Stokes-Einstein equation.
Mahmut C. Ergören, Rita Neumann, Ingrid Berg and Alec J. Jeffreys
PRDM9 plays a key role in specifying meiotic recombination hotspot locations in humans. To examine the effects of both the 13-bp sequence motif (cis-regulator) and trans-regulator PRDM9 on crossover frequencies and distribution, we studied Hotspot DA. This hotspot had the motif at its centre, and a single nucleotide polymorphism (SNP) that disrupts the motif. The crossover frequency showed Hotspot DA to be a regular hotspot with an average crossover rate (~8 X10-4) among hotspots assayed on autosomes. Our results show that, comparing the rates and distributions of sperm crossover events between donors heterozygous for the disrupting SNP showed that there was a huge asymmetry between the two alleles, with the derived, motif-disrupting allele completely suppressing hotspot activity. Intensive biased gene conversion, both in to crossovers and noncrossovers, has been found at Hotspot DA. Biased gene conversion that influences crossover and non-crossover hotspot activity correlates with PRDM9 allele A. In Hotspot DA, the lifetime of the hotspot mostly depends on the cis-regulatory disrupting SNP, and on the trans-regulatory factor PRDM9. Overall, our observation showed that Hotspot DA is the only evidence for human crossover hotspot regulation by a very strong cisregulatory disrupting SNP.
In this study, a deep neural network classifier is proposed for the classification of coronary artery disease medical data sets. The proposed classifier is tested on reference CAD data sets from the literature and also compared with popular representative classification methods regarding its classification performance. Experimental results show that the deep neural network classifier offers much better accuracy, sensitivity and specificity rates when compared with other methods. The proposed method presents itself as an easily accessible and cost-effective alternative to currently existing methods used for the diagnosis of CAD and it can be applied for easily checking whether a given subject under examination has at least one occluded coronary artery or not.
Harikrishna Naik Lavudi, Seshagirirao Kottapalli and Francisco M. Goycoolea
Water soluble galactomannans from seed endosperm of Mimosa pudica L. was extracted and characterized (Fig. 1). Nuclear magnetic resonance spectroscopy and Gas Chromatography results revealed the presence of 4-linked mannose backbone with galactose side chains linked at the C6 position. Scanning Electron Micrographs showed smooth, elongated and irregular granular structure of galactomannan. Structural analysis by Attenuated total reflection infrared spectroscopy presented the Mannose to Galactose ratio while the X-ray diffraction studies showed the presences of A-type crystalline pattern of the galactomannan. Thermo Gravitimetric Analysis showed the three steps weight loss event and determined the thermal stability. The results showed that the extracted polysaccharides are typically amorphous, thermally stable and have desirable properties for industrial applications.
We studied the scientific literature and disease guidelines in order to summarize the clinical utility of genetic testing for achromatopsia. The disease has autosomal recessive inheritance, a prevalence of 1/30000-1/50000, and is caused by mutations in the CNGB3, CNGA3, GNAT2, PDE6C, ATF6 and PDE6H genes. Clinical diagnosis is by ophthalmological examination, color vision testing and electrophysiological testing. Genetic testing is useful for confirming diagnosis and for differential diagnosis, couple risk assessment and access to clinical trials.
We studied the scientific literature and disease guidelines in order to summarize the clinical utility of genetic testing for Bardet- Biedl syndrome (BBS). The disease has autosomal recessive inheritance, a prevalence varying from one in 13 500 to one in 160 000, and is caused by mutations in the ARL6, BBIP1, BBS1, BBS2, BBS4, BBS5, BBS7, BBS9, BBS10, BBS12, CEP290, IFT172, IFT27, LZTFL1, MKKS, MKS1, NPHP1, SDCCAG8, TRIM32, TTC8 and WDPCP genes. The clinical diagnosis of BBS is based on four primary features or three primary features plus two secondary features. The genetic test is useful for confirming diagnosis, and for differential diagnosis, couple risk assessment and access to clinical trials.
Andi Abeshi, Alice Bruson, Tommaso Beccari, Munis Dundar, Francesco Viola, Leonardo Colombo and Matteo Bertelli
We studied the scientific literature and disease guidelines in order to summarize the clinical utility of the genetic test for Best vitelliform macular dystrophy (BVMD). BVMD is mostly inherited in an autosomal dominant manner (autosomal recessive transmission is rare). The overall prevalence is currently unknown. BVMD is caused by mutations in the BEST1 gene. Clinical diagnosis is based on clinical findings, ophthalmological examination, optical coherence tomography, electrooculography and electroretinography. The genetic test is useful for confirming diagnosis, and for differential diagnosis, couple risk assessment and access to clinical trials.
Andi Abeshi, Alice Bruson, Tommaso Beccari, Munis Dundar, Lucia Ziccardi and Matteo Bertelli
We studied the scientific literature and disease guidelines in order to summarize the clinical utility of the genetic test for Bietti crystalline dystrophy (BCD). The disease has autosomal recessive inheritance, a prevalence of 1 per 67 000, and is caused by mutations in the CYP4V2 gene. Clinical diagnosis is based on clinical findings, ophthalmological examination, electroretinography and optical coherence tomography. The genetic test is useful for confirming diagnosis, and for differential diagnosis, couple risk assessment and access to clinical trials.