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At least 631 records · Page 35Linked to original sources
PubMed1981

The Wiedemann-Rautenstrauch or neonatal progeroid syndrome. Report of a patient with consanguineous parents.

A 4-year-old girl is reported with a neonatally apparent progeroid syndrome. Parenteral consanguinity indicates autosomal recessive inheritance. Psychomotor development and physical growth are severely deficient. Mainly characterized by congenital absence of subcutaneous fat tissue, this child is very similar to four patients reported earlier and recognized as representing a newly delineated clinical entity, called here the Wiedemann-Rautenstrauch or neonatal progeroid syndrome.

Child, Preschool↗
PubMed1975

A case of leprechaunism and an analysis of some clinical manifestations of this syndrome.

A case of Leprechaunismm is reported. The parents were not consanguineous. The patient had two female and one male sibling. The patient was female and one sister was normal but the brother was also affected by Leprechaunismm. Another sister was possibly affected by Leprechaunis. The laboratory and autopsy examination showed various abnormal results, but few correlation was noted between the findings of the investigations and the clinical manifestations. The abnormality of the carbohydrate metabolism in Leprechauism may be due to the delay of insulin-release from pancreatic islets, from the abnormality of insulin receptors, or an abnormality of the biological activity of insulin.

Abnormalities, Multiple↗
PubMed1988

The neonatal pseudo-hydrocephalic progeroid syndrome (Wiedemann-Rautenstrauch). Report of a new patient and review of the literature.

A boy with the pseudo-hydrocephalic progeroid syndrome (McKusic 26409) is presented and compared to five previously reported children. The boy presented with major skeletal abnormalities, which receded during the first few months of life. Special investigations like studies on collagen, electron microscopy, and growth studies of fibroblasts did not contribute to our knowledge of the pathogenesis of this rare disease.

Collagen↗
PubMed1983

Radiological findings in the hand in Seckel syndrome (bird-headed dwarfism).

Two patients with severe intrauterine growth retardation and bird-headed appearance are described. These two children had most of the clinical features of the so-called Seckel dwarfism. The radiological findings included: (1) ivory epiphyses affecting all phalanges in one patient and many phalanges in another; (2) cone-shaped epiphyses in the proximal phalanges; (3) marked disharmonic bone maturation between carpals and phalanges, between individual carpals, and from side to side; (4) alteration in the length of the hand bones, with considerable similarity of the metacarpophalangeal pattern between the two children; (5) relatively small carpals, which have an angular configuration; and (6) relatively normal or increased cortical thickness of the metacarpals.

Age Determination by Skeleton↗
PubMed1991

Exposure to low-frequency pulsed electromagnetic fields increases mitogen-induced lymphocyte proliferation in Down's syndrome.

We previously reported that exposure of human mitogen-stimulated peripheral blood lymphocytes (PBL) to extremely low frequency pulsed electromagnetic fields (PEMFs) could restore the defective proliferative capability of PBL from aged subjects. The effects of exposure to PEMFs were studied in PBL from 25 patients with Down's syndrome (DS), a syndrome of premature aging characterized by precocious immune system derangement, including age-related defective PBL proliferative capability. PBL were stimulated with different doses of phytohemagglutinin, and cell proliferation was assessed by measuring the incorporation of tritiated thymidine. After PEMF-exposure, a significant increase in cell proliferation was observed in cells from DS children and young adults, but it was much more evident in PBL from relatively aged DS patients. The age-related effect of PEMFs on DS lymphocytes demonstrates that age must be considered a major variable when studies on DS are performed, and confirms that DS must be regarded as a syndrome of accelerated aging.

Adolescent↗
PubMed2000

Helicases and aging.

Studying monogenic hereditary disorders that manifest age-related phenotypes in cells, tissues, and the total organism would be helpful for clarifying the mechanisms of aging. In this context, seven human disorders that manifest age-related phenotypes have been found to be caused by aberrations of five proteins with seven helicase motifs conserved in most of the helicases. These disorders are xeroderma pigmentosum, Cockayne syndrome, trichothiodystrophy, Bloom syndrome, Werner syndrome, X-linked alpha-thalassemia/mental retardation syndrome, and Juberg-Marsidi syndrome. A decline of probably pleiotropic and fundamental function of helicases in these disorders is, therefore, implied to underlie not only the various age-related phenotypes of the disorders but also the pleiotropic and universal nature of ordinary aging. Consistent with this implication, studies of these seven disorders suggest that their various age-related phenotypes are caused by aberrations in multiple processes, especially transcription. Furthermore, a few studies imply some association between aberration of the helicases and phenotypes in ordinary aging.

Aging↗
PubMed2003

Congenital disorders of glycosylation: review of their molecular bases, clinical presentations and specific therapies.

Congenital disorders of glycosylation (CDG, formerly named carbohydrate-deficient glycoprotein syndromes) are a rapidly growing family of inherited disorders affecting the assembly or processing of glycans on glycoconjugates. The clinical spectrum of the different types of CDG discovered so far is variable, ranging from severe multisystemic disorders to disorders restricted to specific organs. This review deals with clinical, diagnostic, and biochemical aspects of all characterized CDGs, including a disorder affecting the N-glycosylation of erythrocytes, congenital dyserythropoietic anemia type II (CDA II/HEMPAS), and the first disorders affecting O-glycosylation. Since the clinical spectrum of symptoms in CDG is variable and may be unspecific, a generous selective screening for the presence of CDG is recommended.

Anemia, Dyserythropoietic, Congenital↗
PubMed2003

Masseteric silent period and reflex before and after dentomaxillofacial surgery.

The aim of this study was to evaluate massetteric silent period and reflex in patients affected by progenia, before and after maxillofacial surgery, in order to determine their clinical utility. The electrophysiological changes generated by malocclusion secondary to prognatism have been evaluated before and after maxillofacial corrective surgery in 14 patients aged between 18 and 36 years. The masseteric reflex and the silent period (SP) of the masseteric muscles elicited by stimulation of the mental nerve were recorded. A correspondence between the neurophysiological and clinical findings was present in 12 of 14 patients, in particular concerning the latency of SP2. This study demonstrates that the masseteric silent period may be used as a diagnostic and prognostic support, before and after surgery for malocclusion.

Adolescent↗
PubMed2005

Deletion of the Caenorhabditis elegans homologues of the CLN3 gene, involved in human juvenile neuronal ceroid lipofuscinosis, causes a mild progeric phenotype.

The CLN3 gene is involved in juvenile neuronal ceroid lipofuscinosis (JNCL), or Batten-Spielmeyer-Vogt disease, a severe hereditary neurodegenerative lysosomal storage disorder characterized by progressive disease pathology, with loss of vision as the first symptom. Another characteristic of JNCL is the lysosomal accumulation of autofluorescent lipopigments, forming fingerprint storage patterns visible by electron microscopy. The function of the CLN3 protein is still unknown, although the evolutionarily conserved CLN3 protein is being functionally analysed using different experimental models. We have explored the potential of the nematode Caenorhabditis elegans as a model for Batten disease in order to bridge the gap between the unicellular yeast and very complex mouse JNCL models. C. elegans has three genes homologous to CLN3, for each of which deletion mutants were isolated. Cln-3.1 deletion mutants have a decreased lifespan, and cln-3.2 deletion mutants a decreased brood size. However, the neuronal or movement defects and aberrant lipopigment distribution or accumulation observed in JNCL were not found in the worms. To detect possible redundancy, single deletion mutants were crossed to obtain double and triple mutants, which were viable but showed no JNCL-specific defects. The cln-3 triple mutants show a more prominent decrease in lifespan and brood size, the latter most conspicuously at the end of the egg-laying period, suggesting premature ageing. To focus our functional analysis we examined the C. elegans cln-3 expression patterns, using promoter-GFP (green fluorescent protein) gene fusions. Fluorescence patterns suggest cln-3.1 expression in the intestine, cln-3.2 expression in the hypoderm, and cln-3.3 expression in intestinal muscle, male-specific posterior muscle and hypoderm. Further life stage- and tissue-specific analysis of the processes causing the phenotype of the cln-3 triple mutants may provide more information about the function of the cln-3 protein and contribute to a better understanding of the basic processes affected in Batten disease patients.

Alleles↗
PubMed1995

Atherogenic change in the thoracic aorta of the senescence-accelerated mouse.

Biochemical and histological changes in the thoracic aorta of the senescence-accelerated prone mouse were examined in comparison with those of the senescence-accelerated resistant mouse. At 3 and 5 months of age, the lipid peroxide level in the thoracic aorta was higher in the former than in the latter. At 5 months of age, levels of both total cholesterol and triglycerides in the aorta were higher in the former than in the latter, and vice versa for the level of aortic phospholipids. At 5 months of age, the prone mice showed macrophage invasion beneath the endothelial cells of the thoracic aorta, whereas the resistant ones did not.

Aging↗
PubMed1994

Disorders of carbohydrate and lipid metabolism in veterans with paraplegia or quadriplegia: a model of premature aging.

One hundred veterans with paralysis due to spinal cord injury (SCI), equally divided between those with paraplegia and quadriplegia, and 50 able-bodied veteran controls underwent a 75-g oral glucose tolerance test (OGTT). In subjects with SCI, 22% were diabetic by criteria established by the World Health Organization (WHO), whereas only 6% of the control group were diabetic. Eighty-two percent of the controls had normal (NL) oral glucose tolerance, compared with 38% of those with quadriplegia and 50% of those with paraplegia. Subjects with diabetes mellitus (DM) were older in both the SCI and control groups, but those with SCI developed carbohydrate disorders at younger ages than did the control group. SCI subjects had significantly higher mean glucose and insulin values at several points during the OGTT when compared with controls, suggesting an accentuated state of insulin resistance in those with SCI. Mean fasting plasma glucose (FPG) values for both SCI and control groups were significantly higher in subjects with DM compared with those with NL glucose tolerance. When the FPG value was compared between SCI or control subjects with abnormalities in glucose tolerance, the subgroups with SCI and NL or impaired glucose tolerance (IGT) had significantly lower FPG levels than the respective control subgroups, suggestive of decreased hepatic glucose output in SCI.(ABSTRACT TRUNCATED AT 250 WORDS)

Body Composition↗
PubMed1976

Normal DNA strand rejoining and absence of DNA crosslinking in progeroid and aging human cells.

We have measured by alkaline elution and alkaline sedimentation the rate of rejoining of X-ray induced DNA single-strand breaks in terminally senescent cultured WI-38 cells. Using the alkaline elution method, we have also measured the rate of ligation in cultured progeroid cells. In both cells and by both methods of measurement the rates of strand rejoining were normal. Alkaline elution failed to disclose any DNA crosslinking in these cells.

Cell Survival↗