Panel-based next-generation sequencing identifies novel mutations in Bulgarian patients with inherited retinal dystrophies.

Background: Next-generation sequencing (NGS)-based method is being used broadly for genetic testing especially for clinically and genetically heterogeneous disorders, such as inherited retinal degenerations (IRDs) but still not routinely used for molecular diagnostics in Bulgaria. Consequently, the purpose of this study was to evaluate the effectiveness of a molecular diagnostic approach, based on targeted NGS for the identification of the disease-causing mutations in 16 Bulgarian patients with different IRDs.

Methods: We applied a customized NGS panel, including 125 genes associated with retinal and other eye diseases to the patients with hereditary retinopathies.

Refractive Status in Children with Laser-Treated Retinopathy of Prematurity: Our Experience in Bulgaria.

Background: With the establishment of laser photocoagulation as a standard treatment modality for prethreshold retinopathy of prematurity (ROP), a dramatic reduction of cases with ROP blindness and severe visual impairment have been reported. In the same time, high refractive errors, a common complication in ROP cases and especially in ROP treated infants, have become the main cause of visual and often severe visual impairment.

Aim: The purpose of our study was to analyse the long-term refractive status in children at 3.

Amblyopia screening in Bulgaria.

Purpose: To determine the prevalence of amblyopia and the average age at first ophthalmological examination of school-aged children from northwestern Bulgaria.

Methods: Visual acuity testing, stereopsis, orthoptics, ocular motility, non-cycloplegic refraction, direct ophthalmoscopy, and external ocular inspection were performed. Cycloplegic refraction and indirect ophthalmoscopy were done as necessary.

[Consensus on the treatment of type 2 diabetes mellitus].

The outcome data from the United Kingdom Prospective Diabetes Study (UKPDS) showed that intensive drug treatment of diabetes mellitus-type 2 and the tight control of glycaemia and blood pressure are associated with lower incidence of chronic diabetic complications and mortality. The economical analysis showed out that money invested in the intensive drug treatment of diabetes and arterial hypertension resulted in less expenses for the treatment of diabetic complications. These data are the reason to suggest an algorythm for the treatment of diabetes mellitus type 2.

[Comparison between the incidence of diabetic macroangiopathy in a group of diabetics from Bulgaria and from 13 other countries].

A Bulgarian team, within the frames of a multinational study on diabetic vascular disease, sponsored by WHO, studied a group of 473 diabetic patients by the inquiry method and by the determination of blood cholesterin and creatinine and urine albumin. The results were compared with those of the whole group (6695 patients from 14 countries) and with each national group separately. A higher percentage of insulin-treated patients was established in the Bulgarian group as compared with the whole group, fewer hypertonics, lower mean cholesterol values, a little higher average body weight and considerably lower percentages of smokers.

[Effect of dietetic fruit products prepared with sorbitol and pectin on the blood sugar and insulin levels in diabetic patients].

The effect of four kinds dietetic fruit products, sweetened by Sorbitol (pectin nectar, apricot nectar, apple and strawberry jam) on blood sugar and insulin needs of the patients was studied in 40 patients with insulin-dependent diabetes. The results were compared with those, obtained with the consumption of similar fruit products, sweetened by industrial sugar. The study was performed by an apparatus for automatic regulation of blood sugar (artificial endocrine pancreas--Biostator), which supplies the organism of the patients, overloaded with the respective product, with insulin, depending on the degree of glycemia and guarantees "normal" utilization of the product.

[Therapeutic effect of Trental in diabetic angiopathy].

The effect of pentoxiphyline substance--Trental, production of Höchst, was studied in 37 diabetics (12 females and 25 males) aged from 36 to 78. Besides according to clinical manifestations, the therapeutic effect was objectivized in dynamics through the oscillography "Gesenius-Keller", double-rheography "Schufrid", skin thermometer--Tastotherm P 60 "Braun" and 6-canal ECG apparatus "Hellige". Favourable results, evaluated according to all mentioned methods were found in 89.