Developmental dyslexia and its complex genetic puzzle

Genetics suggest that DD is an additive or interactive effect of multiple genetic and environmental risk factors. In 2014 an interdisciplinary collaboration between the University of Trieste and the Institute for Maternal and Child Health IRCCS \u201cBurlo Garofolo\u201d of Trieste started, with the aim of performing a genetic study in Italian families with dyslexia

Right coronary artery chronic total occlusion in presence of anomalous origin of left coronary artery

Right sinus origin of left coronary artery is a very uncommon congenital coronary anomaly. The presence of an associated totally occluded right coronary artery represents an exceedingly rare picture. An accurate morphologic identification of anomalous arteries, by multi-detector computed tomography, is mandatory before planning any therapeutic intervention. We report an interesting case of chronic total occlusion of the right coronary artery in a young patient with anomalous left coronary arter

Segregation of Particles of Variable Size and Density in Falling Suspension Droplets

The problem of the falling under gravity suspension droplet was examined for cases where the droplet contains particles with different densities and different sizes. Cases examined include droplets composed of uniform-size particles with two different densities, of uniform-density particles of two different sizes, and of a distribution of particles of different densities. The study was conducted using both simulations based on Oseenlet particle interactions and laboratory experiments. It is observed that when the particles in the suspension droplet have different sizes and densities, an interesting segregation phenomenon occurs in which lighter/smaller particles are transported downward with the droplet and preferentially leave the droplet by entering into the droplet tail, whereas heavier/larger particles remain for longer periods of time in the droplet. When computations are performed with two particle densities or two particle sizes, a point is eventually reached where all of the lighter/smaller particles have been ejected from the droplet, and the droplet continues to fall with only the heavier/larger particles. A simple model explaining three stages of this segregation process is presented

Infant with a big head and 'crossed' polysyndactyly

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DNA Dilemma: A Perspective on Current U.S. Patent and Trademarh Office Philosophy Concerning Life Patents

The lack of a solid set of criteria for determining patentability of subject matter - particularly subject matter dealing with life - has recently been of increasing public concern in the United States. Alarm for patent practices related to life systems ranges from patents being granted on biochemical processes and the knowledge of these processes to the patenting of entire organisms. One of the most volatile concerns is the patenting of human genes or parts of genes since this genetic material is the basic informational molecule for all life. Current patent law, legislated in 1952, has been interpreted by the U.S. Supreme Court to allow broad patents of DNA, biochemical processes, and what are generally considered 'inventions' of life systems. Several issues are addressed in this paper regarding the unsound reasoning underlying both the interpretation and execution of patent law. Lapses in logic provide a gateway for businesses and individuals to take patenting to an illogical and unworkable extreme. Patent Office disorder of this magnitude is unnecessary and has great potential for harming the mission that the patent office was designed to serve. Recently disclosed patent-granting guidelines suggest the United States Patent and Trademark Office is not upholding its Constitutional responsibility of promoting the progress of science

A child without kneecaps

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TBC1D24 and non-syndromic autosomal dominant hearing loss: the identification of an additional Italo-American family carrying the p.(S178L) mutation

Hearing loss is the most common sensorineural disorder, affecting approximately 1:1000 new-borns. In developed countries, more than half of the cases of congenital hearing loss are due to genetic causes and both syndromic and non-syndromic forms may be recognized. Approximately 20% of the cases of nonsyndromic hearing loss are inherited according to an autosomal dominant pattern. Autosomal dominant hereditary hearing loss (ADHHL) is characterized by a wide genetic heterogeneity and by inter- and intrafamilial clinical variability, making genotype-phenotype correlations extremely complicated. Here we describe a large multi-generation Italo-American kindred affected by ADHHL. After a complete clinical evaluation and hearing function assessment through pure tone audiometry, the proband underwent a multiple-step genetic testing. Eventually, whole exome sequencing was performed on his and other selected family members’ DNA leading to the identification of a heterozygous missense variant in the TBC1D24 gene. Mutations in this gene have been associated with a variety of conditions that are inherited in an autosomal recessive pattern and that may or may not include hearing loss. Interestingly, the variant identified in our kindred is the only mutation in the TBC1D24 gene that has been associated with ADHHL in previous studies. Our case report confirms the role of the TBC1D24 gene and specifically of the p.(S178L) variant in the etiopathogenesis of ADHHL, underlining once again the clinical variability associated with variants in this gene

The omohyoid and sternocleidomastoid muscles entrapment of the internal jugular vein: Which role in Mèniére disease patients? Treatment perspective description

The objectives were to analyze the Internal Jugular vein entrapment caused by muscles compression and the possible role and correlation in Mèniére disease. We describe the eco-color Doppler evaluation of a sternocleidomastoid and omohyoid muscles compression of internal jugular vein in a Mèniére patient, responsible of an anomalous venous cerebral and ear outflow. The proposed treatment was a three months muscolar decontractration physiotherapy program. The physiotherapy session allowed a complete muscles relaxation with an improvement of Internal Jugular vein caliber associated to a normalized cerebral and inner ear venous outflow and a progressive attenuation of Mèniére symptoms during the treatment and its disappearance at the end of the physiotherapy program. The comfort of the patient was confirmed during one-year follow-up. Muscles entrapment of Internal Jugular veins may be correlated with an anomalous cerebral and inner ear venous outflow, promoting the Mèniére disease symptoms. Physiotherapy treatment may represent an intriguing option alternatively of muscle surgical. The present case seems to indicate a possible first line treatment by physiotherapy, reserving surgical resection to not responders. Further studies with a wider sample of patients are warranted