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Severe Abnormalities (severe + abnormality)
Selected AbstractsThe prognostic value of early aEEG in asphyxiated infants undergoing systemic hypothermia treatmentACTA PAEDIATRICA, Issue 4 2010B Hallberg Abstract Background:, Induced moderate hypothermia (HT) for 72 h has been shown to reduce the combined outcome of death or severe neurodevelopmental disabilities in asphyxiated full-term infants. A pathological amplitude integrated EEG background as early as 3,6 h after birth, has been shown to correlate to poor prognosis. Aim:, The aim of this study was to investigate the correlation between amplitude integrated EEG during HT treatment and short-term outcome in asphyxiated full-term infants with moderate/severe hypoxic-ischaemic encephalopathy. Methods:, Between December 2006 and December 2007, 24 infants were treated with moderate HT (33.5°C for 72 h) using a cooling mattress. Motor functions were assessed at 4 and 12 months of age. Results:, Of the total birth cohort of 28,837 infants, 26 infants fulfilled the criteria for HT treatment (0.9/1000) of whom 23 was treated with HT and all of these infants had available amplitude integrated EEG data. Normal 1-year outcome was found in 10/15 infants with severely abnormal burst-suppression pattern or worse at 6 h of age. Severe abnormalities were found to be significantly predictive for abnormal outcome after 36 h. Conclusion:, Among asphyxiated infants treated with HT, only those who had aEEG abnormalities persisting at and beyond 24 h after birth showed poor neurological outcome at 1 year. [source] Intravascular lymphoma associated with systemic lupus erythematosusINTERNATIONAL JOURNAL OF RHEUMATIC DISEASES, Issue 1 2004Masanao Naya Abstract We report a case of systemic lupus erythematosus (SLE) associated with intravascular (angiotropic) lymphoma. A 27-year-old woman had been suffering from uncontrolled severe eruptions for a long time and was admitted because of high fever due to hemophagocytic syndrome (HPS). As her SLE had not been well-controlled by moderate doses of steroids and azathioprine, autoimmune associated HPS was first considered. She was initially treated with steroid pulses and ,-globulin for HPS. However, chromosomal analysis of bone marrow cells revealed severe abnormalities. After malignant lymphoma-associated HPS was diagnosed, chemotherapy was commenced in the intensive care unit with artificial respiration and continuous hemodiafiltration. The patient died of cerebral infarction at day 45. It is suggested that the SLE itself was associated with the development of the intravascular lymphoma rather than due to the azathioprine. [source] Targeted Expression of SHH Affects Chondrocyte Differentiation, Growth Plate Organization, and Sox9 Expression,JOURNAL OF BONE AND MINERAL RESEARCH, Issue 10 2004Sara Tavella Abstract The role of Hedgehogs (Hh) in murine skeletal development was studied by overexpressing human Sonic Hedgehog (SHH) in chondrocytes of transgenic mice using the collagen II promoter/enhancer. Overexpression caused a lethal craniorachischisis with major alterations in long bones because of defects in chondrocyte differentiation. Introduction: Hedgehogs (Hhs) are a family of secreted polypeptides that play important roles in vertebrate development, controlling many critical steps of cell differentiation and patterning. Skeletal development is affected in many different ways by Hhs. Genetic defects and anomalies of Hhs signaling pathways cause severe abnormalities in the appendicular, axial, and cranial skeleton in man and other vertebrates. Materials and Methods: Genetic manipulation of mouse embryos was used to study in vivo the function of SHH in skeletal development. By DNA microinjection into pronuclei of fertilized oocytes, we have generated transgenic mice that express SHH specifically in chondrocytes using the cartilage-specific collagen II promoter/enhancer. Transgenic skeletal development was studied at different embryonic stages by histology. The expression pattern of specific chondrocyte molecules was studied by immunohistochemistry and in situ hybridization. Results: Transgenic mice died at birth with severe craniorachischisis and other skeletal defects in ribs, sternum, and long bones. Detailed analysis of long bones showed that chondrocyte differentiation was blocked at prehypertrophic stages, hindering endochondral ossification and trabecular bone formation, with specific defects in different limb segments. The growth plate was highly disorganized in the tibia and was completely absent in the femur and humerus, leading to skeletal elements entirely made of cartilage surrounded by a thin layer of bone. In this cartilage, chondrocytes maintained a columnar organization that was perpendicular to the bone longitudinal axis and directed toward its outer surface. The expression of SHH receptor, Patched-1 (Ptc1), was greatly increased in all cartilage, as well as the expression of parathyroid hormone-related protein (PTHrP) at the articular surface; while the expression of Indian Hedgehog (Ihh), another member of Hh family that controls the rate of chondrocyte maturation, was greatly reduced and restricted to the displaced chondrocyte columns. Transgenic mice also revealed the ability of SHH to upregulate the expression of Sox9, a major transcription factor implicated in chondrocyte-specific gene expression, in vivo and in vitro, acting through the proximal 6.8-kb-long Sox9 promoter. Conclusion: Transgenic mice show that continuous expression of SHH in chondrocytes interferes with cell differentiation and growth plate organization and induces high levels and diffuse expression of Sox9 in cartilaginous bones. [source] Development of the vertebrate central nervous system: formation of the neural tubePRENATAL DIAGNOSIS, Issue 4 2009Nicholas D. E. Greene Abstract The developmental process of neurulation involves a series of coordinated morphological events, which result in conversion of the flat neural plate into the neural tube, the primordium of the entire central nervous system (CNS). Failure of neurulation results in neural tube defects (NTDs), severe abnormalities of the CNS, which are among the commonest of congenital malformations in humans. In order to gain insight into the embryological basis of NTDs, such as spina bifida and anencephaly, it is necessary to understand the morphogenetic processes and molecular mechanisms underlying neural tube closure. The mouse is the most extensively studied mammalian experimental model for studies of neurulation, while considerable insight into underlying developmental mechanisms has also arisen from studies in other model systems, particularly birds and amphibians. We describe the process of neural tube formation, discuss the cellular mechanisms involved and highlight recent findings that provide links between molecular signaling pathways and morphogenetic tissue movements. Copyright © 2009 John Wiley & Sons, Ltd. [source] Abortion and Neonaticide: Ethics, Practice and Policy in Four NationsBIOETHICS, Issue 3 2002Michael L. Gross Abortion, particularly late-term abortion, and neonaticide, selective non-treatment of newborns, are feasible management strategies for fetuses or newborns diagnosed with severe abnormalities. However, policy varies considerably among developed nations. This article examines abortion and neonatal policy in four nations: Israel, the US, the UK and Denmark. In Israel, late-term abortion is permitted while non-treatment of newborns is prohibited. In the US, on the other hand, late-term abortion is severely restricted, while treatment to newborns may be withdrawn. Policy in the UK and Denmark bridges some of these gaps with liberal abortion and neonatal policy. Disparate policy within and between nations creates practical and ethical difficulties. Practice diverges from policy as many practitioners find it difficult to adhere to official policy. Ethically, it is difficult to entirely justify perinatal policy in these nations. In each nation, there are elements of ethically sound policy, while other aspects cannot be defended. Ethical policy hinges on two underlying normative issues: the question of fetal/newborn status and the morality of killing and letting die. While each issue has been the subject of extensive debate, there are firm ethical norms that should serve as the basis for coherent and consistent perinatal policy. These include 1) a grant of full moral and legal status to the newborn but only partial moral and legal status to the late-term fetus 2) a general prohibition against feticide unless to save the life of the mother or prevent the birth of a fetus facing certain death or severe pain and suffering and 3) a general endorsement of neonaticide subject to a parent's assessment of the newborn's interest broadly defined to consider physical harm as well as social, psychological and or financial harm to related third parties. Policies in each of the nations surveyed diverging from these norms should be the subject of public discourse and, where possible, legislative reform. [source] Essential role for ERK2 mitogen-activated protein kinase in placental developmentGENES TO CELLS, Issue 11 2003Naoya Hatano Background:, Extracellular signal-regulated kinase 2 (ERK2) has been implicated in cell proliferation, differentiation, and survival. However, its role in vivo remains to be determined. Results:, Here we show that the targeted disruption of the mouse ERK2 gene results in embryonic lethality by E11.5 and severe abnormality of the placenta. In these animals, the labyrinthine layer of the placenta is very thin and few foetal blood vessels are observed. ERK2 mutants can be rescued by the transgenic expression of ERK2, demonstrating that these abnormalities are caused by ERK2-deficiency. Although ERK2-deficient fetuses are much smaller than wild-type littermates, this seems to be secondary to malfunction of the placenta. When the placental defect is rescued by tetraploid-aggregation, ERK2-deficient foetuses grow as well as littermate controls. Conclusion:, These observations indicate that ERK2 is essential for placental development and suggest that ERK2 in the trophoblast compartment may be indispensable for the vascularization of the labyrinth. [source] Comparing clock tests for dementia screening: naïve judgments vs formal systems,what is optimal?INTERNATIONAL JOURNAL OF GERIATRIC PSYCHIATRY, Issue 1 2002James M. Scanlan Abstract Background Clock drawing tests (CDTs) vary in format, scoring, and complexity. Herein, we compared the dementia screening performance of seven CDT scoring systems and the judgements of untrained raters. Methods 80 clock drawings by subjects of known dementia status were selected, 20 from each of four categories (Consortium to Establish a Registry for Alzheimer's disease [CERAD] defined normal, mild, moderate, and severe abnormality). An expert rater scored all clocks using published criteria for seven systems. Additionally, 20 naïve raters judged clocks as either normal or abnormal, without formal instructions. Clocks were then classified by drawers' dementia status for comparison of dementia detection across systems. Results Naïve and formal CDT systems showed 90,100% agreement in CERAD normal, moderate and severe categories, but poor agreement (mean,=,39%) for mildly impaired clocks. When CDT systems were compared for accurate dementia classification, the Mendez and CERAD systems correctly identified the greatest proportion of subjects (84,85%), and Wolf-Klein the smallest (58%). The better systems correctly identified>,70% of mildly demented individuals (CDR,=,1). In contrast, medical records from patients' personal physicians correctly identified only 24% of the mildly demented. Strikingly, naïve raters' CDT judgements were as effective as five of the seven CDT systems in dementia identification. Conclusions While the Mendez system was the most accurate overall, it was not significantly better than CERAD, which had simpler scoring rules. Untrained raters discriminated normal from abnormal clocks with acceptable accuracy for community screening purposes. Results suggest that, if used, most CDT systems would improve personal physicians' dementia recognition in difficult to detect mildly demented subjects. Copyright © 2002 John Wiley & Sons, Ltd. [source] Attitudes to prenatal and preimplantation diagnosis in Saudi parents at genetic riskPRENATAL DIAGNOSIS, Issue 11 2006Ayman Alsulaiman Abstract Background Prenatal diagnosis (PND) is only available for severe abnormality in Saudi Arabia, and preimplantation genetic diagnosis (PGD) has been proposed as a valuable alternative. The acceptability of PGD is unexplored, and may ultimately determine the value of this technology in Saudi Arabia. This study reports attitudes towards PND and PGD of Saudi couples offered genetic counselling following the birth of a child with a single gene or chromosomal condition. Methods Thirty couples attending the King Faisal Specialist Hospital and Research Centre in Riyadh were interviewed using a semi-structured questionnaire. One couple had previous experience of PND and none had experience of PGD or IVF. Results Eight of the 30 couples (27%) would only accept PGD; four (13%) only PND; three (10%) either technology; the remainder would accept neither test, or were unsure. The main concerns of those who would accept neither technology were related to personal religious views. Specific concerns about PGD related to the IVF procedure, the risk of multiple pregnancies, the chance of mistakes and the chance of not getting pregnant. A high proportion of couples (six out of seven; 86%) who had a child with thalassaemia expressed interest in PGD, and all would be prepared to use technology to avoid having an affected child. Views were more mixed for the other conditions. Conclusion PGD is acceptable to many couples and for some, it represents a valuable alternative to PND. However, parents' concerns are complex, and the acceptability of different reproductive technologies must be established on an individual basis. Copyright © 2006 John Wiley & Sons, Ltd. [source] | |||||||||||||