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At least 73 records · Page 4Linked to original sources
PubMed1989

[Hereditary diseases and developmental disorders of the nervous system in children (clinico-epidemiological study)].

These are data of a clinico-epidemiological investigation into dysontogenesis++ and inherited disorders of the nervous system in children in a major industrial region. The peculiarities of structure, rate, clinical picture, genealogy of the disorders in the population is described. A program of further actions is designed in order to elaborate a complex of preventive measures.

Child↗
PubMed2000

Neuronal migration disorders: from genetic diseases to developmental mechanisms.

Neurons that constitute the cerebral cortex must migrate hundreds of cell-body distances from their place of birth, and through several anatomical boundaries, to reach their final position within the correct cortical layer. Human neurological conditions associated with abnormal neuronal migration, together with spontaneous and engineered mouse mutants, define at least four distinct steps in cortical neuronal migration. Many of the genes that control neuronal migration have strong genetic or biochemical links to the cytoskeleton, suggesting that the field of neuronal migration might be closing in on the underlying cytoskeletal events.

Animals↗
PubMed1989

Developmental ocular disease in GM-CSF transgenic mice is mediated by autostimulated macrophages.

The eyes of transgenic mice aberrantly expressing the murine granulocyte-macrophage colony-stimulating factor (GM-CSF) gene contain an additional population of phagocytic cells which perturb ocular development. Immunohistochemical analysis shows that these phagocytic cells bear macrophage-specific surface antigens, while hybridization histochemical and transcription analyses indicate that they also express the GM-CSF transgene. Macrophages play a physiological role in the developing mammalian eye, in the removal of both the temporary hyaloid vasculature in the vitreous and redundant neurons from the retina. The onset of ocular disease in transgenic mice coincides with this period of remodeling and the onset of transgene expression. In GM-CSF transgenic mice we observed an amplification of the phagocytic response, loss of its tissue-specific and temporal regulation, and resultant damage to normal ocular tissues. We propose that this disease is a consequence of autostimulation of resident intraocular macrophages at a crucial time in ocular development.

Animals↗
PubMed1990

Dietary aspects of developmental orthopedic disease in young horses.

The clinician may choose between two approaches to nutritional intervention. One is to evaluate the ration and make a painstaking effort to identify those specific factors operating in a particular case, then correct them. The second is to evaluate the ration, inspect for obvious aberrations, and, if finding none, proceed with no further delay to formulate an optimal diet, or a series, for the animals, and design a feeding program to suit farm management. Veterinarians should counsel clients on the possible or probable consequences of level of feeding on growth rate and clinical expression of DOD. In our view, retardation of growth rate by feeding poor quality hay is irresponsible. At present, we suggest that the new approach to retarded growth in weanlings and yearlings--a carefully formulated diet that specifically restricts starch and protein while supplying NRC minimum requirements of other essential nutrients--should be confined to selected individuals and be conducted under strict professional supervision.

Animal Nutritional Physiological Phenomena↗
PubMed1992

Role of early developmental factors in susceptibility to disease.

Early developmental factors implicated in subsequent infant and child development are presented. The orientation adopted emphasizes both the interplay between constitutional and environmental factors and the mutual interaction between the child and its environment. The present paper concentrates on pre- and perinatal factors and maternal psychopathology affecting mainly the early mother-child interaction and, in turn, child developmental outcome.

Child of Impaired Parents↗
PubMed1990

Occurrence of the alpha thalassaemia-mental retardation syndrome (non-deletional type) in an Australian male.

The rare association of alpha thalassaemia and mental retardation has been described previously. Molecular studies of the alpha globin cluster in these cases have been heterogeneous, with some patients having large deletions while in others the alpha globin complex appears to be intact (non-deletional). The non-deletional cases form a distinct group whose features include severe mental retardation, haematological changes of haemoglobin H (Hb H) disease, developmental defects, and unusual patterns of inheritance. To date, five cases have been described with non-deletional alpha thalassaemia-mental retardation. We present here a further example of a young male of Northern European origin who appears to have the non-deletional form of the disease. Clinical features included severe mental retardation, Hb H disease, and developmental defects similar to those reported previously. DNA mapping, including pulsed field electrophoresis, showed no evidence of deletions within the alpha globin cluster. Karyotypic analysis indicated an increase in random breakage, which has been observed previously in one case of deletional alpha thalassaemia-mental retardation. Profuse Hb H bodies and Hb H on electrophoresis were consistent with Hb H disease. However, the latter was present at a relatively low level (1.6%) and, as well, the mean corpuscular volume (82.8 fl) and mean corpuscular haemoglobin (26.4 pg) were surprisingly high. Our findings are compared to other cases described with the non-deletional Hb H-mental retardation syndrome.

Adult↗
PubMed2006

The developmental origins of adult disease (Barker) hypothesis.

Many studies have provided evidence for the hypothesis that size at birth is related to the risk of developing disease in later life. In particular, links are well established between reduced birthweight and increased risk of coronary heart disease, diabetes, hypertension and stroke in adulthood. These relationships are modified by patterns of postnatal growth. The most widely accepted mechanisms thought to underlie these relationships are those of fetal programming by nutritional stimuli or excess fetal glucocorticoid exposure. It is suggested that the fetus makes physiological adaptations in response to changes in its environment to prepare itself for postnatal life. These changes may include epigenetic modification of gene expression. Less clear at this time are the relevance of fetal programming phenomena to twins and preterm babies, and whether any of these effects can be reversed after birth. Much current active research in this field will be of direct relevance to future obstetric practice.

Adult↗
PubMed1998

Glial cell line-derived neurotrophic factor differentially stimulates ret mutants associated with the multiple endocrine neoplasia type 2 syndromes and Hirschsprung's disease.

Ret is a receptor tyrosine kinase involved in several neoplastic and developmental diseases affecting the thyroid gland and tissues of neuroectodermal origin. Different ret mutations are associated with different disease phenotypes. Gain-of-function of ret is caused by gene rearrangements in thyroid papillary carcinomas and by point mutations in multiple endocrine neoplasia (MEN) type 2A syndrome (MEN2A), in familial medullary thyroid carcinoma (FMTC), and in the more severe MEN2B syndrome. Conversely, Hirschsprung's disease (HSCR) is associated with loss of function of ret. Recently, it has been shown that glial cell line-derived neurotrophic factor (GDNF), by binding to the accessory molecule GDNFR-alpha, acts as a functional ligand of Ret and stimulates its tyrosine kinase and biological activity. To ascertain whether the biological effects of ret mutations are modulated by GDNF, we have investigated the responsiveness to GDNF of ret mutants in cell lines coexpressing GDNFR-alpha and MEN2A-, MEN2B-, FMTC-, or HSCR-associated ret mutants. Here, we show that triggering of GDNF affected only ret/MEN2B, i.e. it stimulated ret/MEN2B mitogenic and kinase activities, as well as its ability to phosphorylate Shc, a bona fide Ret substrate. In contrast, ret mutants associated with MEN2A or FMTC (carrying Cys634 or Cys620 mutations) were unresponsive to GDNF. HSCR mutations, by affecting either the extracellular or the intracellular Ret domain, impaired responsiveness to GDNF. These data suggest that the phenotype of human diseases caused by ret mutations can be differentially influenced by GDNF.

3T3 Cells↗
PubMed2001

Application of genomeceuticals to the molecular and immunological aspects of autism.

Autism is a developmental disease affecting as many as 1 in 300 children and is often characterized as a mental disorder originating in infancy that is associated with self-absorption, inability to interact socially, behavior, and language dysfunction (e.g. echolalia). Current theories indicate an important role of diet in the development of disease. It is thought that, as a result of maldigestion of casein and gluten, opioid-type peptides, or exorphins, are produced. Additionally, because of the time-frame of development of the disease, there has been an association with childhood vaccination. Consequently, prevailing therapies attempt to address these causes in one, or a combination, of three ways: diet restriction (removing casein and gluten); supplementation with exogenous enzymes; and probiotic bacteria. Until recently, none of the therapies addressed the molecular mechanisms that may be at work in the development and progression of autism. This paper presents potential molecular and cellular mechanism related to autism as well as discusses their application to the treatment of the disease through the application of genomeceuticals. Additionally, a link between developmentally associated aberrant immune and inflammatory responses, and autism is suggested and explored.

Autistic Disorder↗
PubMed2003

Human chromosome 7: DNA sequence and biology.

DNA sequence and annotation of the entire human chromosome 7, encompassing nearly 158 million nucleotides of DNA and 1917 gene structures, are presented. To generate a higher order description, additional structural features such as imprinted genes, fragile sites, and segmental duplications were integrated at the level of the DNA sequence with medical genetic data, including 440 chromosome rearrangement breakpoints associated with disease. This approach enabled the discovery of candidate genes for developmental diseases including autism.

Animals↗
PubMed1992

[Vaccination in children with neurologic diseases].

The authors explain the main risks of immunization of children with affections of the central nervous system. For practical reasons the diseases are divided into four groups: 1. Perinatal affections and developmental diseases of the CNS. 2. Neurodegenerative and metabolic affections of the CNS. 3. Acquired affections of the CNS. 4. Paroxysmal diseases. The objective of the paper is to reduce the risk of postvaccination complications in children with serious affections of the CNS, while ensuring the contemporary necessary vaccination rate of the population.

Child↗
PubMed2006

Exposure to lead and the developmental origin of oxidative DNA damage in the aging brain.

Oxidative damage to DNA has been associated with neurodegenerative diseases. Developmental exposure to lead (Pb) has been shown to elevate the Alzheimer's disease (AD) related beta-amyloid peptide (Abeta), which is known to generate reactive oxygen species in the aging brain. This study measures the lifetime cerebral 8-hydroxy-2'-deoxyguanosine (oxo8dG) levels and the activity of the DNA repair enzyme 8-oxoguanine DNA glycosylase (Ogg1) in rats developmentally exposed to Pb. Oxo8dG was transiently modulated early in life (Postnatal day 5), but was later elevated 20 months after exposure to Pb had ceased, while Ogg1 activity was not altered. Furthermore, an age-dependent loss in the inverse correlation between Ogg1 activity and oxo8dG accumulation was observed. The effect of Pb on oxo8dG levels did not occur if animals were exposed to Pb in old age. These increases in DNA damage occurred in the absence of any Pb-induced changes in copper/zinc-superoxide dismutase (SOD1), manganese-SOD (SOD2), and reduced-form glutathion (GSH). These data suggest that oxidative damage and neurodegeneration in the aging brain could be impacted by the developmental disturbances.

8-Hydroxy-2'-Deoxyguanosine↗
PubMed1979

Developmental variations of tooth morphology and periodontal disease.

Some developmental variations of tooth morphology may influence the potential for periodontal disease by allowing accumulation of bacterial plaque and calcified deposits. Mechanical plaque control becomes difficult even for the conscientious patient. Periodontal disease may be hastened in these cases. The therapist must be aware of these variations and their significance in the etiology of isolated periodontal lesions. Recognition of these anomalies and early diagnosis may improve the prognosis of the involved tooth.

Dental Cementum↗