Changes in the sound articulation of Bulgarian speech following non-removable prosthetic restoration of frontal maxillary defects

Human speech is a complex process that requires coordinated action of various articulatory organs. The formation of sounds in speech, both vowels and consonants, is achieved through the use of the articulatory apparatus. It is important to note that the place and manner of articulation are crucial for producing different sounds in speech. Specifically, over 46% of the frequency of sound occurrence in speech is related to the frontal teeth, including their shape, size, and spatial arrangement. These observations can be used for a more in-depth analysis of phonetic changes that occur after the prosthetic restoration of frontal maxillary defects

URGENT DIAGNOSIS IN PRACTICAL GENETIC COUNSELLING

No abstrac

PRENATAL DIAGNOSTICS IN THE GENETIC COUNSELING - VARNA

The authors report data from the follow-up of 167 pregnancies in the Medical Genetic Counseling in Varna for the period 1996-2001. In 44% of the cases a primary prevention was aimed. It was established that parental age was the most common indication for prenatal diagnostics (PD) - in 29% of the pregnancies. It was followed by the effects of drugs and/or infectious agents (in 14%), impaired reproduction (in 12%), neural tube defects (in 11%), chromosomal diseases (in 8%), multiple anomalies (in 7%) and single gene disease (in 3%). PD under the indication of'other diseases' was carried out in 16% of the pregnancies. Data were compared to those reported by the authors for the period 1983-1987. It is emphasized that PD is a unique preventive method of a high social value

MOLECULAR GENETIC TESTS - A BASIC APPROACH FOR INVESTIGATING THE GENOME OF T H E POPULATION

Fundamental importance of molecular genetic tests in solving clinical problems is outlined. Relations between genetic counseling and laboratory for molecular pathology in putting molecular genetic tests into practice are focused. Authors look at the possibilities for immediate application of DNA analysis according to the degree of exploration of different genes, determining monogenic diseases. Attention is paid to the methods for direct and indirect DNA analysis used postnatally and prenatally both for diagnosis and prevention. Definition of 'informative' risk family is given, being an object for indirect methods of DNA analysis. Molecular genetic tests are shown as basis for research, genetic investigations of the populations and the diseases spread in them and for creating and applying mass and selective diagnostic and preventing screening programs that aim at ameliorating the human genome and decreasing the number of patients with socially significant hereditary diseases

GENETIC COUNSELING - AN APPROACH FOR SOLVING DIAGNOSTIC PROBLEMS IN CLINICAL PRACTICE

The authors report five clinical cases in which the geneticist in the genetic counseling has come across family history and pedigree data for a certain type of inheritance of the disease in the concrete family and that has been the reason for changing the clinical diagnosis. In the first case report the primary diagnosis of tu cerebri was changed to Marfan syndrome. In the second case report the diagnosis of idiopathic osteoporosis was changed to osteogenesis imperfecta, an  autosomal dominant form. In the third case report the diagnosis of Friedreich ataxia was denied and clinical thinking was focused on autosomal dominant forms of neurodegenerative entities. In the fourth case report the diagnosis of Duchenne muscular dystrophy (Ð¥-recessive disease) was not confirmed and further tests were directed to eventually finding autosomal dominant forms of progressive muscular dystrophies. In fifth case report the primary diagnosis of'diversions in the endocrine status' was not confirmed because an autosomal dominant anhydrotic ectodermal dysplasia was found out. It was pointed out that geneticist's efforts in these and other similar cases contributed to a more precise diagnosis or even changed the primary diagnosis. This optimized the work in the clinical settings and made the prevention of some hereditary diseases possible

Search for surface magnetic fields in Mira stars. First detection in chi Cyg

In order to complete the knowledge of the magnetic field and of its influence during the transition from Asymptotic Giant Branch to Planetary Nebulae stages, we have undertaken a search for magnetic fields at the surface of Mira stars. We used spectropolarimetric observations, collected with the Narval instrument at TBL, in order to detect - with Least Squares Deconvolution method - a Zeeman signature in the visible part of the spectrum. We present the first spectropolarimetric observations of the S-type Mira star chi Cyg, performed around its maximum light. We have detected a polarimetric signal in the Stokes V spectra and we have established its Zeeman origin. We claim that it is likely to be related to a weak magnetic field present at the photospheric level and in the lower part of the stellar atmosphere. We have estimated the strength of its longitudinal component to about 2-3 Gauss. This result favors a 1/r law for the variation of the magnetic field strength across the circumstellar envelope of chi Cyg. This is the first detection of a weak magnetic field at the stellar surface of a Mira star and we discuss its origin in the framework of shock waves periodically propagating throughout the atmosphere of these radially pulsating stars. At the date of our observations of chi Cyg, the shock wave reaches its maximum intensity, and it is likely that the shock amplifies a weak stellar magnetic field during its passage through the atmosphere. Without such an amplification by the shock, the magnetic field strength would have been too low to be detected. For the first time, we also report strong Stokes Q and U signatures (linear polarization) centered onto the zero velocity (i.e., at the shock front position). They seem to indicate that the radial direction would be favored by the shock during its propagation throughout the atmosphere.Comment: 9 pages, 4 figures accepted by Astronomy and Astrophysics (21 November 2013

INVESTIGATIONS OF THE CONTENT OF PRENATAL DIAGNOSIS IN THE CONTINGENT OF GENETIC COUNSELLING IN NORTH-EASTERN BULGARIA

No abstrac

GENERIC COUNSELING IN PATIENTS WITH NEUROLOGICAL DISEASES

Hereditary neurological diseases nowadays are the object of intensive clinicalgenetic and molecular-genetic research. In retrospective evaluation of500families we find out that 20 of them (4 %) are with genetically determined neuropathology. Spinal muscular atrophy and progressive muscular dystrophy (Duchenne and Becker) predominate hut there are families with neural muscular atrophy, Friedreich's ataxia, neurofibromatosis, Strumpel spastic paraparesis, myopaties (inborn and Tompson's) and Huntington's chorea. Mainly the neurological and the paediatric Clinics refer patients. Only one of the visits to the Counseling center is a result of the social contacts of the patients. Almost all autosomal dominant traits segregate in the corresponding pedigrees. Only in three families it is possible to result from a new mutation. The well-known diseases with autosomal recessive and Х-linked recessive inheritance are most often sporadic cases. In two pedigrees genetic counseling is a base for prenatal ultrasound diagnosis and in one -for DNA analysis. In the rest cases genetic prognosis is made for some family members. The concrete cases and the problems of the genetic counseling are discusse

Lithium and magnetic fields in giants. HD 232862 : a magnetic and lithium-rich giant star

We report the detection of an unusually high lithium content in HD 232862, a field giant classified as a G8II star, and hosting a magnetic field. With the spectropolarimeters ESPaDOnS at CFHT and NARVAL at TBL, we have collected high resolution and high signal-to-noise spectra of three giants : HD 232862, KU Peg and HD 21018. From spectral synthesis we have inferred stellar parameters and measured lithium abundances that we have compared to predictions from evolutionary models. We have also analysed Stokes V signatures, looking for a magnetic field on these giants. HD 232862, presents a very high abundance of lithium (ALi = 2.45 +/- 0.25 dex), far in excess of the theoretically value expected at this spectral type and for this luminosity class (i.e, G8II). The evolutionary stage of HD 232862 has been precised, and it suggests a mass in the lower part of the [1.0 Msun ; 3.5 Msun ] mass interval, likely 1.5 to 2.0 solar mass, at the bottom of the Red Giant Branch. Besides, a time variable Stokes V signature has been detected in the data of HD 232862 and KU Peg, pointing to the presence of a magnetic field at the surface of these two rapidly rotating active stars.Comment: 11 pages, 9 figures ; accepted by Astronomy and Astrophysic

Experiment K-6-23. Effect of spaceflight on levels and function of immune cells

Two different immunology experiments were performed on samples received from rats flown on Cosmos 1887. In the first experiment, rat bone marrow cells were examined in Moscow for their response to colony stimulating factor-M. In the second experiment, rat spleen and bone marrow cells were stained in Moscow with a variety of antibodies directed against cell surface antigenic markers. These cells were preserved and shipped to the United States where they were subjected to analysis on a flow cytometer. The results of the studies indicate that bone marrow cells from flown rats showed a decreased response to colony stimulating factor than did bone marrow cells from control rats. There was a higher percentage of spleen cells from flown rats staining positively for pan-T-cell, suppressor-T-cell and innate interleukin-2 receptor antigens than from control animals. In addition, a higher percentage of cells that appeared to be part of the myelogenous population of bone marrow cells from flown rats stained positively for surface immunoglobulin than did equivalent cells from control rats