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At least 937 records · Page 52Linked to original sources
PubMed1980

DNA damage, repair systems and human hypersensitive diseases.

Damage to DNA from carcinogenic agents is one of the early events involved in carcionogenesis. Damage can be mended by excision repair, which is a set of enzymatic pathways by which damaged sites are removed and normal DNA structure restored. Unrepaired damage interferes with DNA replication producing a variety of alterations in chain growth, initiation and termination and sister chromatid exchanges, some of which may result in mutagenesis, transformation and carcinogenesis. Many human diseases exhibit both alterations in excision repair and elevated levels of carcinogenesis.

Abnormalities, Multiple↗
PubMedDate not supplied

[Cockayne's syndrome; a radiological entity: a report on two familial cases (author's transl)].

Two cases of cockayne's syndrome occurring in the same family group are reported. The authors describe the chronological evolution of the bone lesions, based on radiological examinations of the older sister made at 4, 13 1/2, and 15 years of age. Evidence that clinical signs of early ageing are associated with a rapid drop in thymic hormone levels led the authors to search for radiological signs of premature ageing. At 15 years of age only minimal signs were apparent.

Adolescent↗
PubMedDate not supplied

[Premature aging from the biological dynamic viewpoint].

Contrary to normal and harmonic aging, the multiple dimensional and mainly nonsynchronous proceedings of premature aging mostly include a pathological process. The phenomenon of aspectual premature aging is accentuated and its specific structure is elaborated. Within the scope of a multiple systemical biological correlation matrix, modern neurophysiological points of view discussed, which specially target the central nervous infra-structure.

Aged↗
PubMed1995

The Wiedemann-Rautenstrauch neonatal progeroid syndrome: a case report and review of the literature.

We present the case of a post-term newborn with intrauterine growth retardation, pseudohydrocephalus, a tiny face and mouth, thin wrinkled skin, an aged appearance, lipoatrophy and a normal cranial CT scan, suggestive of the Wiedemann-Rautenstrauch neonatal progeroid syndrome. He developed hypothyroidism on day 18 due to a partial organification disorder as did a later born sib. His mental development remains normal at age 2 with delayed growth at -2.5 SD. The case is presented and discussed and the literature is reviewed.

Fetal Growth Retardation↗
PubMed1993

Gingival fibroblasts "in vitro" and Down's syndrome.

Gingival fibroblast cultures from four patients with Down's Syndrome (DS) and periodontal disease were compared with four in vitro age-matched fibroblast cultures of handicapped subjects (ND) also affected by periodontitis. The extra copy of chromosome 21 could alter growth regulation and biochemical mechanisms, so we examined quantitatively some DS phenotypical aspects to detect possible differences from those of controls. The growth properties of gingival fibroblast cultures from DS patients were more elevated than their ND age-matched controls. There were no differences in plasma membrane polarization and in neutral endopeptidase activity. The succinate-cytochrome C reductase activity decreases in DS fibroblasts compared with ND. Our results outline the difficulties to in using fibroblast cultures as an in vitro system to study premature ageing Down's Syndrome.

Adult↗
PubMed1994

A familial syndrome of dwarfism, bilateral club feet, premature aging and progressive panhypogammaglobulinemia.

We describe a 47-year-old woman with an unusual combination of clinical signs and symptoms: short stature, oldish appearance with distinct craniofacial stigmata, talipes equinovari with adduction position of the forefeet, subluxations of the interphalangeal joints of hands and toes, carpal synostosis and progressive panhypogammaglobulinemia. Partial expression of the syndrome could be documented in different members of this family over 5 generations. Among the different possible differential diagnoses, the possibility of a variant example of Larsen syndrome is discussed.

Abnormalities, Multiple↗