Biomedical subjects
Publications and source records attributed to I A Shved.
Clinical specificity and biopsy material from bone foci were studied in 81 children aged from 4 months to 15 years with subacute and primary chronic hematogenic osteomyelitis (PCO). The poorly manifesting course of this pathology is stressed. It is expedient to take into account the morphological alterations in the pathological foci and clinical stages of the disease in diagnosing strategy of treatment of subacute and PCO.
Osteosynthesis of mandibular fragments by the traditional and biomechanics-based methods was studied in dogs. The morphological picture was virtually the same in the immediate periods (5-10 days), whereas in remote periods (1, 3, and 6 months) osteogenesis was more adequate in the group where biomechanically based methods were used, particularly so with the supraosseous miniplates.
A complex study (roentgenographic, arteriographic, anatomic, anthrometric and microscopic) of 16 upper extremities of stillborn and deceased infants with aplasia and hypoplasia of the radius has been carried out. The etiologic factors of the defect were chromosomal and monogenic mutations and multifactor causes. It has been demonstrated that: 1) in cases of reduction of the radius the structure of the arteries, nerves and muscles in destroyed mostly in the radial border of the forearm and hand; 2) the severity of the changes in the anatomic depends on the type of the defect; 3) the pathomorphologic manifestations of the forms of the defect characterized by the same severity are mostly similar. The mechanisms of deformations of the hand in aplasia (hypoplasia of the radius) are discussed.
A comprehensive study (bone roentgenography, arteriography, gross dissection, microscopy of the long bones, and biochemical study of proteoglycan-aggregates in the hyaline cartilage) of the lower limbs in a full-term stillborn with the campomelic syndrome was performed. Hyaline cartilage immaturity of the long bones, dysplasia of growth plates, focal shaft dysplasia, and a defective length of the posterior femur and crus muscles were revealed. The genesis of the bowing and shortening of the long bones in the lower limbs is discussed.
As demonstrate the literature data and the authors' observations on the composition of the anatomical structures of the extremities at the popliteal pterigyum syndrome of Smith-Lemley-Optis, as well as at some other monogenic syndromes, the manifestation of the anatomical changeability in humans is defined, to an essential degree, by hereditary factors. A suggestion is made that investigation of the anatomical changeability in connection with genetic peculiarities of the organism makes it possible to approach the causal interpretation of the variants and the developmental anomalies and comprehend the sources of multiplicity of forms and structure of the human organs and systems.
We present two new cases and data from a detailed study of the upper limbs (structural changes, the state of peripheral nerves, arteries, muscles and bones) of three stillborn infants with the Neu-Laxova syndrome. The morphogenesis of many of the examined anatomical structures in these fetuses was anomalous. The origin of these anomalies is discussed.
The observation of partial trisomy for 5q31-5qter and partial monosomy for the same segment in two offspring within the same family is presented. Their normal mother was a balanced carrier of a reciprocal translocation 46,XX,t(5;10) (q31.3;q26). The trisomic female had craniofacial dysplasia, a short neck, clinodactyly of the 5th fingers, a small umbilical hernia, arhinencephalia, cerebellar hypoplasia, atrial septal defect, an accessory spleen, bifid uterus and vagina, hypoplastic ovaries. Potter syndrome with cystic dysplasia of the left kidney and agenesis of the right, urethral atresia, uterus unicornus with utero-urethral fistula, true hermaphroditism with two ovaries and one testicle were found in her stillborn sister. Analysis of the manifestations of monosomy 5q and trisomy 5q in the same family supports a well known fact that the effects of deletions are more pronounced than those of duplications for the same segments.
An analysis of 33 autopsied cases with the Smith-Lemli-Opitz syndrome (including 8 cases from our practice) is presented. Polydactyly in dead SLOS children was found in 51% (17/33) of cases and occurred significantly more often in this group than in the whole group of SLOS (20-22%). Certain morphological differences in the type of renal, cerebral, pulmonary and pancreatic anomalies indicate the existence of two phenotypically similar SLOS: 1) with polydactyly; 2) without it. The presented data initiate SLOS heterogeneity.
Morphological study, with no selection, is performed of 1106 stillborns and children died before one year of age with congenital malformations (CM), 536 (46.9 +/- 1.5%) among them having multiple CM. Syndrome diagnosis is made in 44.1 +/- 2.1% cases: in 26.9 +/- 1.9% among them these were syndromes of chromosomal and in 17.9 +/- 1.7% syndromes of non-chromosomal etiology. Monogenic hereditary forms among non-chromosomal syndromes were in 42.1 +/- 4.8%. Comparative analysis of frequency and types of CM of various systems in monogenic and chromosomal syndromes and unclassified CM showed that the monogenic syndromes by their phenotypic manifestations are close to the chromosomal syndromes. The uniformity of alterations of certain morphological structures in these syndromes appear to be the consequence of common ways of realisation of both mutant genes in monogenic syndromes and their imbalance in chromosomal syndromes.
Explore the source record for details and available documents.
Explore the source record for details and available documents.
Explore the source record for details and available documents.
Explore the source record for details and available documents.
A case of "short rib-polydactyly" (SRP) syndrome (type II-Saldino-Noonan) with a detailed study of the bones, muscles and peripheral nerves in the extremities is presented. Analysis of the literature (35 cases with different forms of SRP) and the comparison of clinical, genetic and morphological data lead us to consider that different types of SRP may be related to different alleles of the same gene. Genetic heterogeneity (mutations of different genes) is also possible.
Two cases of partial 10p trisomy due to a t(10;20)(p12;p12) in two generations of a family are presented. Analysis of 20 known cases of such aberrations confirmed the opinion of Schleiermacher et al. (1974) that partial trisomy 10p is a distinct clinically recognizable entity. The most important diagnostic features of this syndrome are dolichocephaly, prominent forehead, wide open sutures and fontanelles, broad root of the nose, cleft lip and palate, clubfoot, and cystic changes in kidneys.