Higher risk to D;G translocation carriers fo tdic(13;21) as compared to tdic(14;21)
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Chromosomes, Human, 13-15↗
Biomedical subjects
A Daniel
Publications and source records attributed to A Daniel.
Congenital sensory neuropathy with anhydrosis-a case report and investigation of autonomic nervous system abnormalities.
A review of the clinical profile of congenital sensory neuropathy with anhydrosis is presented. It is stressed that major diagnostic criteria of this recessively inherited condition should be limited to insensitivity to pain with normal tactile perception, anhydrosis, recurrent unexplained fever, self-mutilation, mental retardation, hypotonia, histologically normal sweat glands and variable autonomic abnormality. A case conforming to this description is reported and compared with 13 published cases. Special investigations of the autonomic nervous system through measurement of urinary catecholamine metabolites and psychophysiologic variables were conducted on this patient. Based on the analysis of 5 X 24-hour urine, values of metabolites of dopamine and epinephrine were normal. Metabolites of norepinephrine, such as 3-methoxy-4-hydroxy phenylglycol and normetanephrine, however, were significantly low when compared with those of four controls, suggesting decreased peripheral and central norepinephrine activity. Polygraph recording and evaluation of some orienting response components revealed no obvious signs of autonomic perturbation and, specifically, no phasic electrodermal activity. These two findings (biochemical and electrodermal) strongly suggest an autonomic imbalance, specifically component, both central and peripheral. It is suggested that autonomic disorder is an integral part of the syndrome and may be demonstrated by special investigations.
Autonomic Nervous System Diseases↗
[Stereological analysis of human gingival connective tissues. Clinically healthy gingiva].
The purpose of this study was to analyse stereologically the composition of the human gingival connective tissue after a period to two weeks of intense oral hygiene. Thiry young adults participated in this study. A clinical examination (plaque index and gingival index) was made at day 0 and day 14: on this last day an interdental papilla in the premolar region was sampled. The stereological analysis on point integration field has been made on serial sections of the interdental papillae sectioned in a buccal lingual plane. The gingivodental status of the subjects after the period of intense hygiene was characterized by a total absence of dental plaque and signs of gingival inflammation. The connective tissue was mainly made of by a dense network of collagen fibers. However an infiltrated zone of inflammatory cells (about 25% of the connective tissue) was always present. As a whole the gingival connective tissue was made of 88.4% of collagen, 7.3% of blood and lymph vessels, 4.9% of edema, 8.4% of fibroblasts, 8.2% of inflammatory cells and 2.7% of residual tissue (unidentified cells, nerves...). The infiltrated zone showed a certain number of differences with the non-infiltrated zone (collagen decrease, increase in oedema, vessels and mainly in inflammatory cells, principally monocytes, polymorphonuclear leukocytes and lymphocytes).
Adult↗
Influence of lipidic plant extracts on carrageenin-induced inflammation of guinea-pig palatal mucosa.
Inflammation was induced in the guinea-pig palatal mucosa by a carrageenin solution injection. The inflammatory process was studied by a stereologic procedure. A determination was made of the volume fraction occupied by collagen, edema and vessels 1, 3, 6, 12, 24 hours and 4 days after the injection. The non-treated animals group presented a maximal collagen volumetric density decrease 6 hours after the carrageenin injection. The volume fraction of collagen then increased to reach approximately a value similar to the healthy mucosa collagen volumetric density 4 days after the injection. Edema was correlatively maximal 6 hours after the carrageenin injection and decreased during the next hours. During the whole course of the experiment, the volumetric density of vessels was higher than in healthy mucosa. The modification of the inflammatory process in the group of animals treated by the lipidic plants extracts (15 mg daily during 60 days before the carrageenin injection) mainly consisted in a stabilization of the vessels volumetric density during the experiment. The lipidic plants extracts would act as an inhibiting factor of the inflammatory vascular neoformation.
Animals↗
Influence of lipidic plant extracts on cells kinetics during carrageenin-induced inflammation of guinea pig palatal mucosa.
It has been shown that guinea pigs treated during 60 days with vegetal insaponified fractions presented a stabilization of the vessels volumetric density during the 4 days following a carrageenan injection in the palatal mucosa when compared with the vascular increase observed in non-treated animals. This inhibition of the inflammatory vascular neoformation influences the cells kinetics during the carrageenan induced inflammation of the palatal mucosa. The cellular volume fractions were calculated by a stereologic technique based on a morphometric point counting procedure described by Weibel (1969). The principal result consists in a general decrease of the inflammatory cells volume densities, specially concerning the polymorphonuclear leukocytes. This phenomenon must be related to the vascular volume fraction stabilization during the inflammatory process and could explain the drug activity on inflammatory states.
Animals↗
Creatine transport into red blood cells.
The permeation of creatine from plasma into normal human red blood cells was investigated by means of 1-[14C]-creatine. Two statistically different Vmax and Km values were found for lower and for higher creatine concentrations of the plasma, respectively, indicating two types of transport with different affinities and capacities. It is suggested that the high affinity process, which accounts for 1/4 of the capacity and has an affinity constant of 0.087 +/- 0.032 mM is an active transport, while the low affinity transport represents an exchange diffusion. There is little, if any, effect of pH in the range of 6.9-7.9 on the transport. The total creatine concentration of the red cells did not change significantly even with high creatine concentration of the plasma during 6 h incubation at 37 degrees C. The in vitro experiments showed a daily exchange of cellular creatine of 20%, the t0.5 being about 2.5 days.
Adult↗
[Creatine content in erythrocytes and blood plasma of chickens before and following stimulation of erythropoiesis by anemia].
The red blood cells of chicken have a lower creatine concentration than those of man (1 mg/100 ml vs 5-6 mg/100 ml cells). No creatine phosphate was found in either erythrocytes or reticulocytes. With anemia produced by phenylhydrazine and bleeding a young cell population appeared with a higher creatine concentration.
Anemia↗
[Behavior of creatine in red blood cells and blood plasma of adult rats following exposure to hypoxia].
Adults rats exposed to hypoxia showed a definite increase of creatine concentration in red cells and plasma. The rise in cell creatine 37 h after the beginning of hypoxia had disappeared 2 days after the end of hypoxia. It is explained by the expulsion of preformed reticulocytes from the bone marrow. The increase of plasma creatine is supposed to be due to hypoxic damage to the muscles, which release creatine into the blood stream.
Animals↗
Does histamine influence vasodilation caused by prolonged arterial occlusion or heavy exercise?
Vasodilation induced by prolonged arterial occlusion or fatiguing exercise is thought by some to be due, in part, to histamine. To test this hypothesis, we studied isolated canine gracilis muscles perfused at low, constant flow. Diphenhydramine and cimetidine, H1 and H2 receptor antagonists, respectively, were used in combination. Vasodilation induced by a supramaximal dose of histamine was abolished but vasodilation after occlusions thought capable of inducing ischemic injury was unchanged in magnitude or time course. Vasodilation during moderate or heavy exercise at constant flow was also unaffected. We conclude that reactive hyperemia and exercise vasodilation in skeletal muscle do not depend even in part on histamine.
Animals↗
Structural differences in reciprocal translocations. Potential for a model of risk in Rcp.
Interchange segment sizes and the sizes of chromosome imbalance arising from the different modes of meiotic segregation were measured in a selected sample of 20 reciprocal translocations (Rep). The Rep were selected by two modes of ascertainment: (I) neonates with an unbalanced form of the translocation, and (II) couples with recurrent spontaneous abortions without evidence of full-term translocation aneuploid offspring. The measurements (% of haploid autosomal length: %HAL) were plotted as the observed or potential chromosomal imbalance with monosomy (abscissa) and trisomy (ordinate). It was found that (a) the interchange segments were larger in the spontaneous abortion Rcp, (b) that all of the imbalances observed in full-term neonates plotted close to the origin and to the left of the line joining 4% trisomy to 2% monosomy, and (c) the imbalances observed in the neonates in each individual Rcp were of the smallest size possible arising by any segregation mode. It was concluded that a major factor in the survival to term of aneuploid conceptuses is the size (proportion of genome) of the chromosome abnormality, irrespective of the origin of the chromosome regions. These results are discussed in relation to their use as a model to evaluate the risk of abnormal offspring in the progeny of translocation heterozygotes (the Chromosome Imbalance Size-Viability Model).
Abortion, Spontaneous↗
Single Cd band in dicentric translocations with one suppressed centromere.
Six human dicentric translocations involving the presence of a suppressed centromere were studied: one case of t dic(9;22), one of t dic(13;18), one of t dic(14;15), and three of t dic(13;14). All exhibited chromatid separation at an acrocentric centromere and were demonstrated to have two regions of centromeric constitutive heterochromatin. The four that were available for retrospective study showed a single Cd band, with absence of the Cd band at the suppressed centromere.
Centromere↗
Familial dicentric translocation t(13;18)(p13;p11.2) ascertained by recurrent miscarriages.
A dicentric translocation is described involving chromosomes 13 and 18 in which the centromere of chromosome 13 was suppressed. The translocation was ascertained by repeated miscarriages and was found in three generations of phenotypically normal carriers.
Abortion, Habitual↗
Normal phenotype and partial trisomy for the G positive region of chromosome 21.
A prenatally diagnosed male fetus and his mother, who was referred because of her advanced age, both carried an abnormal bisatellited chromosome 21 as an extra chromosome. The abnormal 21 was monocentric and the G negative band q22 and part of q21 had been deleted during formation. The phenotype of both the mother and child (at birth) was normal.
Adult↗
Further dicentric X isochromosomes and deletions, and a new structure i(X)(pter to q2102 to pter).
A new dicentric X isochromosome i(X)(pter to q2102 to pter) of similar size to a normal X is described in a girl with gonadal dysgenesis. In this non-mosaic case with an X short arm duplication, most of the stigmata associated with Turner's syndrome were absent. This structure was compared with that of six i(Xq) and three del(X). The del(Xq) structures all possessed a regular sized C band, but in the i(Xq) this was double sized in each case. Phenotypic comparisons are made in the Xq deletions, and some presumptive short arm isochromosomes are reinterpreted as Xq deletions. Incomplete centromeric suppression is suggested as the causal mechanism of mosaicism of sex isochromosomes with 45,X cells, and it is argued that an exchange event between homologoues is an unlikely mechanism to explain sex isochromosome origin.
Adolescent↗
Effect of carrageenan-induced inflammation on the binucleate keratinocytes of guinea pig palatal mucosa.
A 1% carrageenan solution was injected into the palatal mucosa of male guinea pigs between the two first molars. Biopsy specimens were taken 1, 3, 6, 12 and 24 hours after the injection. Control specimens with healthy mucosa and tyrode injected mucosa were used in order to evaluate the carrageenan-induced inflammation. An intense inflammatory reaction occurred within hours after the carrageenan solution injection. The palatal epithelium exhibited a considerable increase in the number of binucleate cells (P less than 0.001). As proposed by several authors, the inflammation of the underlying connective tissue might explain this phenomenon. The presence of binucleate cells would be an indication that the migration of epidermal cells from the basal to the horny layer proceeds in a hasty and immature fashion.
Animals↗
[Influence of inflammation on keratinocytes of the palatal mucosa of guinea pigs].
The palatal mucosa of the guinea pig contained in the normal state a certain number of binucleated cells. Injections of substances inducing inflammation (carrageenan, calcium pyrophosphate dihydrate, monosodium urate) were made in order to produce an inflammatory reaction in the palatal mucosa of young male and adult guinea pigs. The percentage of binucleated epithelial cells was estimated at different time intervals after injections. For the three injected substances, a significant increase of the binucleated epithelial cells was noted in the palatal injected mucosa, when compared with a healthy mucosa or a mucosa having been injected with saline.
Animals↗
Marker X chromosomes, mental retardation and macro-orchidism.
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Chromosome Aberrations↗
Prenatal diagnosis in New South Wales: comparative view of the first 1000 cases of chromosomal, sex-linked, and metabolic referrals.
In 1000 cases referred for prenatal diagnosis, 28 affected fetuses were detected, and 24 therapeutic terminations of pregnancy were performed. There were five main reasons for referral. Among the 293 women referred because of advanced maternal age (40 years and above), there were 11 (3.8%) who had affected fetuses, while among the 439 aged 35 to 39 years there were 6 such women (1.4%). In the 112 mothers referred because of a history of a previous child with Down's syndrome, one fetus (0.9%) with trisomy 21 was detected. Of 27 cases in which one parent was a carrier of a balanced chromosomal rearrangement, two chromosomally abnormal fetuses (7.4%) were detected (the offspring of maternal carriers), and a further two spontaneous abortions occurred before the scheduled amniocentesis. In the 22 cases with a history of sex-linked disorder, there were 8 males. Nine women were referred with a possible inherited metabolic defect: one fetus affected with congenital adrenal hyperplasia was detected. The number of metabolic referrals was markedly less than in overseas studies. The finding of XXY, XXX and trisomies of chromosomes 13, 18, and 21 in fetuses of older mothers confirms the increased risk in such mothers for chromosome abnormalities in addition to trisomy 21. Sixty-two of the 1000 women (6.2%) had to have a repeat amniocentesis because of failure of culture. Of 900 births: one case of maternal cell contamination and one case of unconfirmed mosaicism were the only disparities between prenatal and postnatal karyotypes. The average time necessary to obtain the karyotypic result was 15 days after amniocentesis.
Adult↗