The acrofacial dysostoses--a wide spectrum of overlapping phenotypes.
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Biomedical subjects
Publications and source records attributed to B Dimitrov.
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Mesomelic form of chondrodysplasia and congenital glaucoma associated with de novo translocation (13;18)(q14:q23): Mesomelic dysplasias are characterized by limb shortening most prominent of the middle segment of the extremities (forearm and lower leg). In addition to several syndromic forms a few patients with sporadic or familial forms and without precise nosological classification have been reported so far. In this report we present a young female with disproportionate mesomelic dwarfism, dysmorphic facial features, bilateral glaucoma, patent ductus arteriosus, low and hoarse voice, and generalized muscular hypotonia. At the age of 2.5 years mental development is normal. High resolution G-banded chromosome studies revealed a de novo reciprocal translocation with karyotype 46,XX t (13;18)(q14;q23). The concurrence of this de novo autosomal translocation with this distinct phenotype supports the hypothesis that disruption of (a) gene(s) at the translocation breakpoints causes this unusual, apparently new form of skeletal chondrodysplasia.
Possible associations of incidence of non-Hodgkin's lymphoma (NHL) with solar UVR have been suggested (Cartwright e.a. 1994, etc.). Also, incidence for both malignant melanoma of the skin (SMM) and NHL has shown a rapid increase over the last 10-15 years worldwide. On the other hand, cyclicity in variations of incidence rates for SMM was reported (Houghton e.a. 1981, Dimitrov 1998, etc.). The present study analysed trends and variations in incidence of SMM and NHL for the USA. Annual age-standardized incidence rates for SMM and NHL (SEER database, 1973-1989) were compared. Linear and non-linear regression modeling, periodogram regression analysis and parametric tests were applied (Dimitrov e.a. 1995). The analysis denoted non-linear trends of increasing incidence for both SMM and NHL. Cyclic variations in incidence rates for SMM in US females were reported previously (Dimitrov 1993) and now were confirmed also for other strata of the population (mainly, cycles with a period T = 8 divided by 9 years, p < 0.05) as well as revealed for NHL (mainly, cycles with a period T = 8 divided by 9 years). This cyclicity was significant at 95% only for black US males (Table 1). After decycling for hypercyclicity of 20-35 years (long-term cyclic trends), however, significant high-frequency infrannual variations of 3 divided by 5 years appeared in NHL (latter cyclic variations, for instance, were observed in the sunspots index, solar UVR and stratospheric ozone). Also, significant cycles of 11-13 years appeared for white US males. Similar cyclicity of 9 divided by 11 years was observed in sunspots number over the same interval. Trends of NHL were very similar to that of SMM, as were the variations. This study might be considered a contribution to the hypothesis on possible associations of incidence for NHL with heliogeophysical phenomena.
The results of a detailed morphological and morphometrical chromosome analysis of Rana camerani (2n = 26) are described. It was established that the karyotype of this species consisted of three homologous pairs of large metacentrics, two homologous pairs of large submetacentrics, three homologous pairs of small metacentrics, two homologous pairs of small submetacentrics, and three homologous pairs of small subtelocentrics. Morphologically discernible sex chromosomes were not found. The similarity and peculiarities in the R. camerani karyotype and those of R. temporaria, R. dalmatina and R. graeca are discussed. This comparative karyotype analysis has suggested the possibility for developing a general chromosomal formula, by means of which these 26-chromosome species could be characterized.
The diagnostic relevance of endorectal ultrasonography is assessed in a series of 56 patients presenting surgical, urological and obstetric-gynecological conditions, distributed as follows: carcinoma of the rectum (30 cases), prostate gland pathology (12 men) and uterine neck carcinoma (14 women). Endorectal echography contributes greatly to preoperative staging of the patients with rectal carcinoma. In prostate gland diseases it proves helpful in making the diagnosis before and after the treatment. In conclusion it is underscored that endorectal echography is a noninvasive procedure highly effective economically.
Mechanically evoked cerebral potentials (MECP) were studied in humans standing on a movable platform with three different stance widths. A sudden platform tilt of 4 degrees produced ankle dorsiflexion and resulted in scalp potentials of five distinct components, the earliest being a positive deflection at 35/60 ms. Their latencies have shown fairly consistent values among the three stance widths, while the amplitudes underwent some significant changes under the wide stance condition as compared with tightly close feet. These findings were interpreted as purporting evidence of altered somaesthetic afferent input from lower limbs during standing with widely apart support surface.
The results of comparative electrophoretic analysis on muscle esterases, superoxide dismutases, lactate dehydrogenases, malate dehydrogenases-NAD-dependent, phosphoglucomutases and myogens in the brown frogs Rana temporaria, R. graeca and R. dalmatina are described. The coefficient of similarity and indices of divergence among the species investigated were estimated. It was established that in relation to the protein systems analysed R. graeca differed more significantly from R. dalmatina than from R. temporaria. It is suggested that the higher electrophoretic similarity of R. temporaria and R. dalmatina is a result of a greater divergence of the latter in comparison with R. graeca.
Species specificity concerning the two main SCE characteristics, namely frequency and localization, of "spontaneous" SCEs in plant cells (root tips of Crepis capillaris) and in human lymphocytes was investigated under comparable conditions. The FPG technique was used for detection of SCEs after bifilar incorporation of BrdU into DNA (TB-BB). Data of parallel experiments showed that the frequency of SCEs in plant cells was considerably higher than that observed in human lymphocytes--13.2 and 7.3 SCEs per cell respectively. The difference was even more pronounced when the SCE frequency was estimated on the basis of DNA content/cell (pg). Analysis of SCE distribution was limited to SCEs localized in the centromere, since contradictory results most frequently concerned this chromosome region. The data of the present experiments showed that the frequency of SCEs localized in the centromere regions of plant chromosomes was considerably lower than that observed in human chromosomes. Compared with the relative sizes of the centromere regions in the two genomes, however, these frequencies proved to be quite similar. In both systems the centromeres were involved in SCE, as could be expected for random distribution, along the length of the chromosomes.
Movements of the upper limb are well known to be preceded by electromyographic activity in leg and trunk muscles known as postural preadjustment. Brain potentials preceding the actual commencement of voluntary displacement were also described. The relationship between the occurrence of these two electrophysiological phenomena was investigated by performing two types of movement in three different body positions. Healthy subjects were free standing, sitting and standing with backsupport. When fast forward arm elevation was executed, the preceding Bereitschaftspotential was higher in amplitude at 500 msec before EMG onset and alongside midline scalp leads during sitting. The amplitude at 150 msec, immediately preceding movement, did not show significant differences related to body positions and there was no contralateral dominance. When index finger flexion was performed, it did not yield differences in the Bereitschaftspotential between sitting and standing positions. These findings suggest the existence of two separate stages of the preparatory process and an influence of the muscle mass involved in the stance perturbation during voluntary movement.
This study assessed the effects of training and ability to execute a voluntary movement upon movement-related brain potentials (MRBPs). A self-paced thumb flexion initiated a sequence of autotriggered electrical stimuli over the median nerve that caused a twitch opposing the intended thumb extension. The MRBPs had earlier onsets during the first runs of skill acquisition than during later training sessions; they occurred earlier when they preceded a stimulus train than when they preceded a single stimulus; the onset was earlier over the vertex than over the premotor area. MRBP duration was longer during train stimulation when a voluntary effort had to be maintained against tetanic contraction. MRBP amplitude did not reflect task requirements under these experimental conditions.
Sucralfate made in Bulgaria (Farmaphim) and its Yugoslavian analogue venter have been tried in gastroduodenal ulcer. The drugs were given per os (1 g, 1 tablet) 4 times a day before meals for 20 days. Sucralfate treatment was assigned to 26 patients with gastric and 26 with duodenal ulcer. The other 20 gastric ulcer patients received venter. 10 patients with gastric and 20 with duodenal ulcer entered the control group receiving placebo. Attenuation of the symptoms was reported as early as on day 4 of the treatment in 85-100% of the patients both with gastric and duodenal ulcer. The 20-day course of sucralfate treatment brought about a complete epithelization on gastric ulcer in 54% while in venter treatment in 55% of those treated versus placebo group 10%. Duodenal ulcer epithelization occurred in sucralfate-treated group in 58% against placebo group 17%. The differences in treatment results between sucralfate and venter are immaterial, whereas against placebo they are significant (p less than 0.05). Side effects were not serious.
This study examined whether cerebellar dysfunction resulted in deficiencies of motor learning. Patients with cerebellar atrophy only or cerebellar atrophy combined with atrophy of the brainstem and age-matched normal subjects performed two tasks to assess improvements in skilled performance. The first task was repetitive tracing with the hand of an irregular geometric pattern with normal visual guidance, and the second task was repetitive tracing of a different geometric pattern with mirror-reversed vision. Patients with pathology limited to the cerebellum showed impairments in the skilled performance of the movement performed with normal vision that may have been related to a failure to alter movement strategy. Patients with added pathology in the brainstem exhibited impairments in adapting to mirror-reversed vision. Subsidiary experiments indicated that improvements of movements guided by mirror-reversed vision were mediated by vision. These results indicate that the cerebellum and its associated input pathways are involved in motor skill learning.
The efficacy of cisapride, as compared with cimetidine, in the treatment of erosive esophagitis was studied in a double-blind trial. One hundred and twenty-nine patients were assigned to one of four dosage schedules: cisapride 10 mg b.i.d. (20 mg group) or q.i.d. (40 mg group), or cimetidine 400 mg b.i.d. (800 mg group) or q.i.d. (1600 mg group). Treatment lasted 8 to 12 weeks. The degree of esophagitis and the severity of diurnal and nocturnal heartburn and regurgitation were significantly (p less than 0.01) reduced in the four treatment groups. Endoscopy did not show any significant differences among the four groups, although cisapride tended to be more effective in moderate to severe esophagitis, in which cases mucosal healing (i.e. absence of erosions and ulcers) was observed in 69%, 64%, 55% and 55% of the patients treated with cisapride 40 mg, cisapride 20 mg, cimetidine 1600 mg and cimetidine 800 mg. Improvement in reflux symptoms in the two cisapride groups was not significantly different from that in the cimetidine 1600 mg group, but was better (p less than 0.05) than that in the cimetidine 800 mg patients. The severity score for all reflux symptoms had decreased by 79%, 74% (cisapride 40 mg and 20 mg), 69% and 57% (cimetidine 1600 mg and 800 mg) by the end of treatment. These results show that cisapride is at least as effective as acid-suppressing therapy in patients with reflux esophagitis, and is therefore a valuable alternative to it.
30 patients with endoscopically proved duodenal peptic ulcer were treated with Bulgarian drug Ranatidin in a dose of 150 mg twice daily in the course of 20 days. The pains were relieved up to the third day in 90% of the patients treated and the dyspeptic complaints disappeared in 1-3 days in 96-100% of the patients. Following the treatment course a statistically significant decrease of the gastric secretion indices was established (V, V1) and of the basic acid production (BAO, MAO, PAO) in comparison with the values before the treatment. Full epithelialization of the ulcer was found endoscopically in 60% of the patients treated and in the remaining 40% the size of the ulcer has diminished. The ulcer epithelialization is related to its initial size. The results achieved do not differ from those achieved with the analogous English drug Zantac. No side effects were observed in the course of treatment with Ranatidin.
Somatosensory evoked potentials (SEP) recorded from humans were elicited by a cutaneous shock to the index finger or with a ramp displacement of the finger that stretched the first dorsal interosseous muscle. A somatosensory stimulus was presented while a subject maintained a steady posture of the metacarpophalangeal joint or during a rapid voluntary abduction of the index finger. Both activities were performed against a constant opposing load of 0.15 Nm or without a load. SEPs were recorded over the postcentral arm area, together with the electromyogram of the first dorsal interosseous muscle. The major components of the SEPs were P56, N130, P174, N232 and P294. The amplitudes of all components were diminished substantially during active movement. A constant load opposing postural fixation or active movement did not influence the SEP amplitude. The amplitude of the P56 component was differentially affected by the shock or ramp stimuli. The findings demonstrate that active movement gates sensory input, while sustained tonic muscular activity with an opposing constant load does not, and that different somesthetic inputs may be processed differently during movement.
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100 patients with gastric peptic ulcer and 100 patients with duodenal peptic ulcer in an active with well expressed pain syndrome were studied clinically and gastroscopically. These two groups of patients were compared by several indices with a group of 81 patients with gastric peptic ulcer and 243 patients with duodenal peptic ulcer admitted to hospital because of acute bleeding from the ulcer. All patients were examined endoscopically with a fibroscope "Olimpus--GIF--Q 10". The results were processed by the semiquantitative statistical method--U criterion. It was established that the peptic ulcer patients over 60 years of age bleed more often than the younger ones. The incidences of bleeding increase with the duration of the ulcer. Comparatively more often bleed the ulcers on the posterior wall of the duodenal bulb and the larger ulcers. Preceding drug induced lesions are found more often in the bleeding ulcer patients than in the non-bleeding ones with an expressed pain syndrome only. The results lead to the conclusion that advanced age, use of ulcerogenic drugs and greater size of the ulcer are unfavourable risk factors for bleeding in the patients with peptic ulcer.