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Biomedical subjects

A Rett

Publications and source records attributed to A Rett.

At least 37 records · Page 2Linked to original sources
PubMed1985

Neurochemical aspects of the Rett syndrome.

Preliminary biochemical analyses on plasma, urine, cerebrospinal fluid (CSF) and post mortem brain areas in the rare Rett syndrome indicate no gross disturbance of neurotransmitter function in the periphery. The amino acid pattern, the plasma catecholamines, dopamine, noradrenaline and adrenaline, serotonin in plasma and platelets, and monoamine oxidase (MAO) B-activity in platelets were not different from controls. Urinary metabolites of biogenic amines tended to be increased in the Rett syndrome. Amino acid and noradrenaline concentrations were not changed in lumbar CSF. In a single case of the Rett syndrome, lower values for most amino acids were notable in post-mortem human brain areas and this finding was accompanied by a severe reduction of dopamine, noradrenaline and serotonin, while the metabolite, DOPAC, most times is increased, and HVA and 5-HIAA are decreased. MAO activities, determined in four brain areas, showed no major abnormalities. 3H-spiroperidol binding was significantly below normal in the putamen and 3H tryptamine binding sites in the occipital cortex showed increased binding numbers with no changes in Hill-coefficients. In conclusion, our preliminary data indicate no severe changes in the peripheral neurotransmitter synthesis and turnover, while first post-mortem data indicate severe reduction of biogenic amine synthesis with enhanced turnover and reduced dopaminergic D-2 receptor activity in the advanced stage of a single case of the Rett syndrome.

Adolescent↗
PubMed1985

Rett syndrome: criteria for inclusion and exclusion.

In the absence of discriminatory laboratory tests for accurate diagnosis of the Rett syndrome, the authors have tried to give as precise clinical criteria as possible for use particularly for research purposes.

Child↗
PubMed1985

Hepatitis A and B in non-institutionalized mentally retarded patients.

The high incidence of hepatitis A and B in institutionalized patients with Down's syndrome is not fully understood. Under poor hygienic conditions immunological alterations might predispose to these infections. To minimize environmental influences, 125 patients with Down's syndrome (mean age 11.9 years) living at home with their families were studied for the occurrence of serological markers of Hepatitis A and B. 106 outpatients with mental retardation of other genesis (mean age 12.4 years), and 114 consecutive voluntary blood donors (mean age 18.0 years) from the same area served as controls. Evidence of previous hepatitis A virus infection was found in 5.6% of Down's patients, in 9.4% of other mentally retarded patients, and in 16.7% of healthy controls. Evidence of previous or ongoing hepatitis B virus infection was a common finding in both groups of mental retardation (Down's syndrome 20.0%, other mentally retarded patients 11.3%) in sharp contrast to healthy blood donors (0.9%, p less than 0.05). Patients with Down's syndrome, however, revealed a much higher incidence of HBs-antigenemia as compared with other mentally retarded patients (12.8% vs. 2.8%, p less than 0.01). All HBs antigen-positive cases had normal transaminase levels and no overt clinical signs of liver disease, suggesting an asymptomatic carrier state. These data indicate that hepatitis A is not a special risk for mentally retarded outpatients, while hepatitis B virus infection is hyperendemic even in not-institutionalized patients.(ABSTRACT TRUNCATED AT 250 WORDS)

Adolescent↗
PubMed1983

[Pregnancy interruption from the pediatric viewpoint].

Therapeutic abortion is foremost a biological problem. The abrupt termination of the physiologic phenomenon of pregnancy is a sudden interference with the biology of the interaction between mother and fetus. Therapeutic abortion is also a psychological, a sociological and a political problem. Today therapeutic abortion is legal under certain condition and done by physicians. This review supports therapeutic abortion for prenatally determined abnormalities which have a scientifically high risk of defective offspring especially trisomy 21. Intensive genetic counselling prior to the therapeutic abortion is necessary. The last decision for the therapeutic abortion rests with the pregnant mother. The genetic medical problem is only part of the decision making since a number of familial, personal, religious and human factors are involved in the decision. The experience of the physician, his world view, his medical education, his knowledge of the psychological and physical and social anxieties of the pregnant patient also modify the decision making. The gynaecologist who carried out the therapeutic abortion needs to take these factors into account. Considering how difficult and depressing the development of severely mentally retarded persons is especially when they reach adulthood and how limited there life is by suffering, limitations and isolation therapeutic abortion is a valuable method to spare parents the stress of caring for severely mentally retarded offspring for years and decades.

Abortion, Therapeutic↗
PubMed1982

[Genetic counselling and human handicap].

Nowadays a responsible health policy cannot exist without a human genetics counselling service which is both scientifically founded and freely accessible to the whole population. Human genetics counselling is concerned with the application of knowledge of the causes of congenital developmental disturbances such as chromosomal aberrations, genetic defects and metabolic disorders to medical practice. However, the early diagnosis of a chromosomal aberration by means of amniocentesis directly intervenes in the life of a woman and the existence of the embryo, leading, in turn, to a decision-making process which is influenced by a variety of factors on the part of the woman and on the part of the physician. The counselling physician will be influenced by his own medical experience, his ethical views, and his knowledge of the social, physical, psychological and educational problems arising in the case of developmental disturbances. His personal style of counselling and his sensitivity and receptivity in dealing with the problems of the individual patient will determine the weight of his advice. Modern human genetics, if optimally applied, can change the whole scene of handicap by limiting congenital developmental disturbances on the basis of an understanding of the underlying causation obtained by comprehensive investigation. Only then can patients be adequately counselled and prevention become possible.

Amniocentesis↗
PubMed1981

[Satellite associations in trisomy 21 (author's transl)].

Satellite associations and cell-cycle kinetics were investigated in short-term blood cultures from selected pairs of chromosomally normal persons and patients with trisomy 21. The cell-cycle duration was found to be longer in patients with trisomy than in normal persons. The frequency of satellite associations and the involvement of chromosomes 21 with them showed no difference between the two groups of persons. The involvement of the homologues of a pair (or triplets) of chromosomes 21 in satellite associations showed remarkable individual differences. No correlation between satellite association and meiotic non-disjunction can be established on the basis of these results.

Adolescent↗
PubMed1980

[A rare hand malformation, the Freeman-Sheldon syndrome].

A rare syndrome, first described in 1938 by FREEMAN and SHELDON, two English doctors, is discussed. The condition affects the face and both hands to a degree that no useful function is possible. The characteristic malformations are described in detail. They are caused by a soft tissue disorder and no bony involvement has been found so far. Therefore, the term "Cranio-carpo-tarsal dystrophy" is misleading. Conservative treatment by dynamic splints has brought very little improvement.

Abnormalities, Multiple↗
PubMed1979

[Ocular signs in cases of down's syndrome (author's transl)].

420 mongoloid children aged between one month and 14 years were examined in a special ophthalmology department for disabled children employing biomicroscopy, retinoscopy under atropine and, if possible, visual acuity testing. Epicanthal folds were present in 46%, mongoloid slanting of the lids in 72% of cases. A decrease in binocular vision was present in 40% of the children. Brushfield's spots were encountered in 86% of the patients in a circular arrangement, whilst in 7% only the temporal half of the iris was involved. Lens changes of a variable degree were present in altogether 55% of cases and an increase in the number of retinal vessels, as well as their radial arrangement, as described by Williams, were documented in 46% of the cases. A comparison of the incidence and degree of refractive anomalies in mongoloid and normal children was undertaken. The present findings are discussed and compared with the results of other investigators.

Adolescent↗
PubMed1979

Partial trisomy 4q in two unrelated cases.

Two unrelated cases of 4q trisomy are described with trisomic segment 4q25 leads to 4qter. The most conspicuous symptoms are psychomotor retardation, microcephaly, malformed ears, retrognathia, finger and toe malformations and cryptorchism in a male. Both cases are compared with 19 previously reported ones.

Abnormalities, Multiple↗
PubMed1979

A case of trisomy 22 in Pongo pygmaeus.

A behaviorally and clinically abnormal female orangutan was analyzed cytologically using general banding techniques and by an alkaline silver method for staining nucleolus organizer regions. The karyotype had 49 chromosomes, including an extra chromosome 22 (49,XX + 22). No variant chromosome types or heterozygous structural rearrangements were found. Nine of the 14 large acrocentric chromosomes, Nos. 11--17, and three of the five presumptive human G-group equivalents, i.e., two of three chromosomes 22, and one chromosome from pair 23, exhibited positive silver staining of the nucleolus organizer region (NOR).

Animals↗
PubMed1979

Demonstration of specific heterochromatic segments in the orangutan (Pongo pygmaeus) by a distamycin/DAPI double staining technique.

Orangutan metaphase chromosomes, obtained from a female animal with trisomy 22, were stained by a recently developed distamycin/DAPI fluorescent technique which had been shown to differentiate specific C-bands on human chromosomes, as well as by other banding techniques. Distamycin/DAPI-brilliant fluorescence was observed in the short arm regions of acrocentric chromosomes 11--17, 22 and 23, and a brightly fluorescent paracentromeric band was seen on chromosome 8. A smaller amount of fluorescence was found adjacent to the centromere of most of the other chromosomes. Sequential distamycin/DAPI and Giemsa C-staining of the metaphases revealed that the "hot-spots" on acrocentrics correspond to C-band material in their short arm. The less intensely fluorescent centric bands on other chromosomes coincide with centromeric C-bands. Reverse fluorescent staining of organutan chromosomes with chromomycin A3 revealed brightly fluorescent regions at short arms of some acrocentrics probably confined to the satellite, either in a heteromorphic form (Nos. 11, 14, 17) or of similar size (No. 22).

Animals↗
PubMed1978

Terminal deletion of (1)(q42) and its phenotypical manifestations.

A 5-year-old male with multiple malformations (dwarfism, microcephalia with brachycephalic shape of skull, mongoloid lid axis, epicanthus, convergent strabismus, flat root of the nose, micrognathia, missing uvula, deformed low-set ears, hypoplastic genitals, and general hypotonia), severe mental retardation, and cerebral paroxysms caused by a partial monosomy (1)(q42 leads to qter) is described. This case is compared with other cases with a partial monosomy or ring-1 chromosomes.

Abnormalities, Multiple↗