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At least 235 records · Page 13Linked to original sources
PubMed2003

[At the crossroads between developmental and degenerative diseases: the cerebellar disorders of early infancy. Classification and practical approach].

The developmental characteristics of the cerebellum, including its histogenesis which persists well beyond birth, explain, at least in part,why the mechanisms of cerebral disorders of infancy remain equivocal. The nosology of certain congenital ataxias, especially those with cerebellar hypoplasia, remains ambiguous, at the crossroads between early degenerative disease and congenital non-progressive anomalies. We have revisited the clinical approach to the most frequent situations: (1) the careful dysmorphology work-up must search for any element of various recognizable syndromes, especially those transmitted by autosomal recessive inheritance. An update of list of such syndromes is provided. (2) Cerebellum imaging must be obtained as early as possible and re-documented with a long-term follow-up. Emerging 3D techniques should help improve morphological evaluation. (3) One the contrary, a complex biochemical work-up, looking for metabolic diseases, is required only when the clinical and radiological evaluations provide unusual data. (4) Mental status is always the most relevant element of prognosis. t is frequently compromised, including in congenital non-progressive ataxia with normal imaging. Beyond the classical strategies, the genetic approach must take into consideration possible phenotypic homologies with natural or experimental animal models. This approach is illustrated by the recent discovery of mutations with the human homolog of the Reeler gene in a subset of cerebellar agenesis associated with other dysgenetic elements.

Animals↗
PubMed1985

Moyamoya disease with a developmental anomaly of the mesenchyme.

We treated a Japanese boy with moyamoya disease accompanied by synbrachydactylia, funnel chest, pes equinus and short stature. Angiograms showed the anomalous origin of the occipital artery in addition to the moyamoya vascular network at the base of the brain. A generalised mesenchymal anomaly was suggested in this case.

Abnormalities, Multiple↗
PubMedDate not supplied

[Ultrasonic study in the diagnosis of developmental defects and diseases of the urinary system in children].

Echography has recently become one of the leading methods of examination in different branches of medicine. Despite its high informativeness, however, it is not used widely in pediatrics. The article generalizes the practical experience accumulated in ultrasonic examination of urinary organs in children with developmental anomalies and diseases of the kidneys, ureters, urolithiasis, and Wilms' tumor. Besides, the possibility of echography as a screening test in outpatient examination of children with changed values of urinalysis is shown for the first time in pediatric practice. The authors describe the advantages of the method in combined developmental anomalies and regular medical examination of patients after various methods of treatment. They emphasize its merits (absolute safety, no injurious effect, high informativeness, the possibility of performing it in children who are in a grave condition, its extensive use under outpatient conditions, etc.). It is shown the ultrasonic examination in outpatient clinics makes it possible to divert from the traditional plan of radiourological examination of children, which includes excretory urography performed in children in inpatient clinics as a rule. It is obvious that the use of echography as a diagnostic test will make it possible to exclude the radiation load which is most harmful for the growing and developing organism and will not require mass hospitalization, which will undoubtedly have a high therapeutic and economical effect.

Adolescent↗
PubMedDate not supplied

[The epidemiological problems of hereditary diseases and congenital developmental defects in Ukraine].

A description is provided of significance of epidemiological investigations designed to study hereditary pathology to be able to assess health status of the population. The state-in-the-art in this branch of medical science in Ukraine is reviewed. It is shown that the is a problem in this country of hypodiagnosis and inadequate recording of hereditary diseases and congenital developmental anomalies. The contributors to this article submit a system of registration of hereditary pathology, worked out on the basis of a medicogenetical service that starts functioning in Ukraine.

Congenital Abnormalities↗
PubMed2004

Developmental origins of disease paradigm: a mechanistic and evolutionary perspective.

Fetal growth is determined by the interaction between the environment and the fetal genome. The fetal environment, in turn, is determined by the maternal environment and by maternal and placental physiology. There is evidence that the interaction between the fetal environment and genome can determine the risk of postnatal disease, as well as the individual's capacity to cope with the postnatal environment. Furthermore, the role of various forms of maternal constraint of fetal growth in determining the persistence of these responses is reviewed. A limited number of biologic processes can contribute to the mechanistic basis of these phenomena. In addition to immediate homeostatic responses, the developing organism may make predictive adaptive responses of no immediate advantage but with long-term consequences. An evolutionary perspective is provided, as well as a review of possible biologic processes. The "developmental origins of disease" paradigm is a reflection of the persistence of such mechanisms in humans who now live in very different environments from those within which they evolved. The developmental origins paradigm and its underlying mechanistic and evolutionary basis have major implications for addressing the increasing burden of metabolic and cardiovascular disease.

Animals↗
PubMed2006

The roles of cilia in developmental disorders and disease.

Cilia are highly conserved organelles that have diverse motility and sensory functions. Recent discoveries have revealed that cilia also have crucial roles in cell signaling pathways and in maintaining cellular homeostasis. As such, defects in cilia formation or function have profound effects on the development of body pattern and the physiology of multiple organ systems. By categorizing syndromes that are due to cilia dysfunction in humans and from studies in vertebrate model organisms, molecular pathways that intersect with cilia formation and function have come to light. Here, we summarize an emerging view that in order to understand some complex developmental pathways and disease etiologies, one must consider the molecular functions performed by cilia.

Animals↗
PubMed1992

Congenital, hereditary and developmental spinal cord disease.

A number of papers have been published during 1991 in the area of congenital, hereditary and developmental spinal cord disorders, which discuss a wide range of rare spinal anomalies; there have, however, been no significant advances. The diagnosis of these disorders has been enhanced by the use of magnetic resonance imaging (MRI).

Cauda Equina↗
PubMed2005

A review of developmental instability, parasitism and disease. Infection, genetics and evolution.

Developmental instability is reflected in imprecise development caused by perturbations of the developmental process, while developmental stability reflects the ability to avoid or reduce such perturbations by developmental means. Developmental instability has been hypothesized to reflect overall individual condition, and asymmetric or otherwise aberrant individuals have thus been predicted to be particularly severely affected by disease and parasitism. An extensive review of the literature on animals, including humans, revealed consistent relationships between increased bilateral asymmetry and elevated risk of parasitism. Parasitism, including parasitism of mothers, is a cause of asymmetry as shown by a number of experiments, and asymmetric individuals are differentially susceptible to a range of different parasites. Extensive studies of humans have shown that asymmetric individuals also suffer disproportionately from a range of different diseases including mental diseases. Studies of transgenic organisms have now demonstrated that single genes associated with disease is a sufficient cause of increased asymmetry. A number of studies have also shown that activation of the immune system causes increased asymmetry in developing individuals, and that asymmetry and immunity show negative covariation. These findings may have important implications for the study of susceptibility of hosts to infectious disease.

Animals↗
PubMed1997

Utility of developmental reflexes in the differential diagnosis and prognosis of incontinence in Alzheimer's disease.

Four developmental reflexes, the tactile suck reflex, the palmar and plantar grasp reflexes, and the plantar extensor reflex, were examined in 784 individuals, including healthy elderly, cognitively and functionally mildly impaired individuals, and patients with Alzheimer's disease (AD) in all stages of clinical severity. The study population was classified into six categories of increasingly impaired functional performance, and prevalence of the four individual reflexes and of a summary reflex measure, consisting of a combination of these four reflexes, was determined for each category. Prevalence of all five reflex measures was more than six times higher for those categories that comprised only permanently doubly incontinent patients as compared to those categories that comprised only continent individuals (P < .001). Frequency of developmental reflexes rose sharply with the onset of progressive incontinence. Since the return of these reflexes in AD is associated with severe cortical dysfunction, it is concluded that these developmental reflexes are useful in differentiating incontinence of cortical origin from incontinence resulting from potentially reversible causes.

Aged↗
PubMed1997

Developmental trajectory and disease progression in schizophrenia: the conundrum, and insights from a 12-year prospective study in the Monaghan 101.

Though conceptualised originally as a deteriorating disorder, some contemporary studies have been interpreted as challenging these foundations; more radically, it has been proposed that schizophrenia may be a 'static encephalopathy' of neurodevelopmental origin. The argument offered here is that schizophrenia is indeed a neurodevelopmental disorder, but that this is not in itself antithetical to later disease progression. Rather, the onset of psychosis may reflect the maturationally-mediated triggering of an active disease process that is associated with progressive deterioration unless attenuated by antipsychotic drugs. A developmental trajectory is proposed to link first or early second trimester dysplasia to the chronic course of the illness; from this, it is argued that schizophrenia is inherently a progressive disorder but that antipsychotic drugs may act to ameliorate this progressive component and thus confer on the disease course some of the characteristics of a 'static encephalopathy'. The 'true' natural history of an illness cannot be determined from studies in treated populations.

Antipsychotic Agents↗
PubMed2004

Physiology of folate and vitamin B12 in health and disease.

Folate is a water-soluble B-vitamin and enzymatic cofactor that is necessary for the synthesis of purine and thymidine nucleotides and for the synthesis of methionine from homocysteine. Impairment of folate-mediated one-carbon metabolic pathways can result from B-vitamin deficiencies and/or single nucleotide polymorphisms, and increases risk for pathologies, including cancer and cardiovascular disease, and developmental anomalies including neural tube defects. Although several well validated metabolic and genomic biomarkers for folate deficiency exist, our understanding of the biochemical and genetic mechanisms whereby impaired folate metabolism increases risk for developmental anomalies and disease is limited, as are the mechanisms whereby elevated folate intake protects against these pathologies. Therefore, current initiatives to increase folate intakes in human populations to ameliorate developmental anomalies and prevent disease, while effective, lack predictive value with respect to unintended adverse outcomes.

Folic Acid↗
PubMed1995

Evaluation of developmental dysplasia, Perthes disease, and neuromuscular dysplasia of the hip in children before and after surgery: an imaging update.

This article focuses on the current status of radiologic imaging before and after surgery of a limited spectrum of common hip disorders in children: developmental hip dysplasia, Legg-Calvé-Perthes disease, and neuromuscular hip dysplasia. An understanding of the anatomic abnormality, of when surgical intervention is needed, of the types of surgery, and of the complications influences the ability of the radiologist to interpret radiologic studies and to communicate information to the referring physician. Technologic advances in imaging that provide new information about the developing hip and standard radiographic evaluation of the abnormal hip are discussed. The diagnostic and treatment goals for all types of hip disease are similar. The goals of all therapy are to preserve the full range of motion of the hip and to prevent premature degenerative changes by maintaining a round, well-shaped femoral head that is contained by and congruous with the acetabulum.

Child↗
PubMed1982

[Biopsy of the accessory salivary glands in Sjögren's disease. Value in the diagnosis and estimation of the developmental stage of the disease. Analysis of 148 cases].

Biopsies of the labial accessory (144 cases) or principal (4 cases) salivary glands were performed in 139 patients with clinically and biologically confirmed Sjögren's syndrome, and 9 patients with rheumatoid arthritis alone to act as control. Confirmation of diagnosis was obtained in both isolated cases (31 p. cent) and those with associated collagen disease (69 p. cent). Histological lesions were classified in 3 stages of increasing severity. Stage I cases had ectasia of several distal canals which, in the absence of significant lymphocytic reactions, permitted early diagnosis. In stage II, a typical appearance was noted: abundant nodular or diffuse lymphocytic infiltration with an increase in numbers of ectasias. In stage III of acini destruction, the dominant feature was diffuse peri- and intralobular sclerosis and only rare lymphocytes. Is, therefore, distal canal dilation the most reliable diagnostic sign of the syndrome, which has been shown by ultrastructural studies to arise from massive destruction, followed by anarchic regeneration, of myoepithelial cells that ensure canal contractility. These 3 histologically-defined stages generally correlate well with those normally employed to grade sialographic images (stage I, initial, showing miliary filling defects; stage II with larger rounded areas and penetration of the contrast medium into tissues around the canal; stage III demonstrating the "dead tree" appearance together with lack of contrast medium extension beyond Stenon's duct and its main branches). However, certain discordances were noted, histological signs sometimes preceding sialographic modifications. Biopsy of accessory salivary glands could be the most simple, reliable method for confirming diagnosis of Sjögren's syndrome in its early stages.

Adult↗