WorldWideScience

Sample records for premature aging syndromes

  1. Premature aging syndrome.

    Science.gov (United States)

    Coppedè, Fabio

    2012-01-01

    Hutchinson-Gilford progeria syndrome and Werner syndrome are two of the best characterized human progeroid diseases with clinical features mimicking physiological aging at an early age. Both disorders have been the focus of intense research in recent years since they might provide insights into the pathology of normal human aging. The chapter contains a detailed description of the clinical features of both disorders and then it focuses on the genetics, the resulting biochemical alterations at the protein level and the most recent findings and hypotheses concerning the molecular basis of the premature aging phenotypes. A description of available diagnostic and therapeutic approaches is included.

  2. Aberrant DNA methylation profiles in the premature aging disorders Hutchinson-Gilford Progeria and Werner syndrome

    Science.gov (United States)

    Heyn, Holger; Moran, Sebastian; Esteller, Manel

    2013-01-01

    DNA methylation gradiently changes with age and is likely to be involved in aging-related processes with subsequent phenotype changes and increased susceptibility to certain diseases. The Hutchinson-Gilford Progeria (HGP) and Werner Syndrome (WS) are two premature aging diseases showing features of common natural aging early in life. Mutations in the LMNA and WRN genes were associated to disease onset; however, for a subset of patients the underlying causative mechanisms remain elusive. We aimed to evaluate the role of epigenetic alteration on premature aging diseases by performing comprehensive DNA methylation profiling of HGP and WS patients. We observed profound changes in the DNA methylation landscapes of WRN and LMNA mutant patients, which were narrowed down to a set of aging related genes and processes. Although of low overall variance, non-mutant patients revealed differential DNA methylation at distinct loci. Hence, we propose DNA methylation to have an impact on premature aging diseases. PMID:23257959

  3. Aberrant DNA methylation profiles in the premature aging disorders Hutchinson-Gilford Progeria and Werner syndrome.

    Science.gov (United States)

    Heyn, Holger; Moran, Sebastian; Esteller, Manel

    2013-01-01

    DNA methylation gradiently changes with age and is likely to be involved in aging-related processes with subsequent phenotype changes and increased susceptibility to certain diseases. The Hutchinson-Gilford Progeria (HGP) and Werner Syndrome (WS) are two premature aging diseases showing features of common natural aging early in life. Mutations in the LMNA and WRN genes were associated to disease onset; however, for a subset of patients the underlying causative mechanisms remain elusive. We aimed to evaluate the role of epigenetic alteration on premature aging diseases by performing comprehensive DNA methylation profiling of HGP and WS patients. We observed profound changes in the DNA methylation landscapes of WRN and LMNA mutant patients, which were narrowed down to a set of aging related genes and processes. Although of low overall variance, non-mutant patients revealed differential DNA methylation at distinct loci. Hence, we propose DNA methylation to have an impact on premature aging diseases.

  4. Prematurely aged children: molecular alterations leading to Hutchinson-Gilford progeria and Werner syndromes.

    Science.gov (United States)

    Domínguez-Gerpe, Lourdes; Araújo-Vilar, David

    2008-12-01

    Ageing is thought to be a polygenic and stochastic process in which multiple mechanisms operate at the same time. At the level of the individual organism ageing is associated with a progressive deterioration of health and quality of life, sharing common features such as: alopecia and grey hair, loss of audition, macular degeneration, neurodegeneration, cardiovascular diseases, osteoporosis, cataract formation, type-2 diabetes, lipodystrophies; a generally increased susceptibility to infection, autoimmune disorders and diseases such as cancer; and an impaired ability to cope with stress. Recent studies of mechanisms involved in the ageing process are contributing to the identification of genes involved in longevity. Monogenic heritable disorders causing premature ageing, and animal models have contributed to the understanding of some of the characteristic organism-level features associated with human ageing. Werner syndrome and Hutchinson-Gilford progeria syndrome are the best characterized human disorders. Werner syndrome patients have a median life expectancy of 47 years with clinical conditions from the second decade of life. Hutchinson-Gilford progeria syndrome patients die at a median age of 11-13 years with clinical conditions appearing soon after birth. In both syndromes, alterations in specific genes have been identified, with mutations in the WRN and LMNA genes respectively being the most closely associated with each syndrome. Results from molecular studies strongly suggest an increase in DNA damage and cell senescence as the underlying mechanism of pathological premature ageing in these two human syndromes. The same general mechanism has also been observed in human cells undergoing the normal ageing process. In the present article the molecular mechanisms currently proposed for explaining these two syndromes, which may also partly explain the normal ageing process, are reviewed.

  5. Mechanisms of premature vascular aging in children with Hutchinson-Gilford progeria syndrome.

    Science.gov (United States)

    Gerhard-Herman, Marie; Smoot, Leslie B; Wake, Nicole; Kieran, Mark W; Kleinman, Monica E; Miller, David T; Schwartzman, Armin; Giobbie-Hurder, Anita; Neuberg, Donna; Gordon, Leslie B

    2012-01-01

    Hutchinson-Gilford progeria syndrome is a rare, segmental premature aging syndrome of accelerated atherosclerosis and early death from myocardial infarction or stroke. This study sought to establish comprehensive characterization of the fatal vasculopathy in Hutchinson-Gilford progeria syndrome and its relevance to normal aging. We performed cardiovascular assessments at a single clinical site on the largest prospectively studied cohort to date. Carotid-femoral pulse wave velocity was dramatically elevated (mean: 13.00±3.83 m/s). Carotid duplex ultrasound echobrightness, assessed in predefined tissue sites as a measure of arterial wall density, was significantly greater than age- and sex-matched controls in the intima-media (Pnormalizing trends of these noninvasive cardiovascular measures. The data demonstrate that, along with peripheral vascular occlusive disease, accelerated vascular stiffening is an early and pervasive mechanism of vascular disease in Hutchinson-Gilford progeria syndrome. There is considerable overlap with cardiovascular changes of normal aging, which reinforces the view that defining mechanisms of cardiovascular disease in Hutchinson-Gilford progeria syndrome provides a unique opportunity to isolate a subset of factors influencing cardiovascular disease in the general aging population.

  6. LMNA-Associated Cardiocutaneous Progeria: a Novel Autosomal Dominant Premature Aging Syndrome with Late Onset

    Science.gov (United States)

    Kane, Megan S.; Lindsay, Mark E.; Judge, Daniel P.; Barrowman, Jemima; Rhys, Colette Ap; Simonson, Lisa; Dietz, Harry C.; Michaelis, Susan

    2013-01-01

    Hutchinson-Gilford Progeria Syndrome (HGPS) is a well-characterized premature aging disorder caused by mutations in LMNA, the gene encoding the nuclear scaffold proteins lamin A and C. In HGPS and related progerias, processing of prelamin A is blocked at a critical step mediated by the zinc metalloprotease ZMPSTE24. Emerging evidence indicates that LMNA-linked progerias can be grouped into two classes: 1) the processing-deficient, early onset “typical” progerias (e.g. HGPS), and 2) the processing-proficient “atypical” progeria syndromes (APS) that are later in onset. Here we describe a novel progeria syndrome with prominent cutaneous and cardiovascular manifestations belonging to the second class. We suggest the name LMNA-associated cardiocutaneous progeria syndrome (LCPS) for this disorder. Affected patients are normal at birth but undergo progressive cutaneous changes in childhood and die in middle age of cardiovascular complications, including accelerated atherosclerosis, calcific valve disease, and cardiomyopathy. In addition, the proband demonstrated cancer susceptibility, a phenotype rarely described for LMNA-based progeria disorders. The LMNA mutation that causes LCPS is a heterozygous missense mutation resulting in an amino acid substitution (D300G) in the coiled-coil domain of lamin A/C. In skin fibroblasts isolated from the proband, the processing and levels of lamin A and C are normal. However, nuclear morphology is aberrant and rescued by treatment with farnesyltransferase inhibitors (FTIs), as is also the case for HGPS and other laminopathies. Our findings advance knowledge of human LMNA progeria syndromes, and raise the possibility that typical and atypical progerias may converge upon a common mechanism to cause premature aging disease. PMID:23666920

  7. LMNA-associated cardiocutaneous progeria: an inherited autosomal dominant premature aging syndrome with late onset.

    Science.gov (United States)

    Kane, Megan S; Lindsay, Mark E; Judge, Daniel P; Barrowman, Jemima; Ap Rhys, Colette; Simonson, Lisa; Dietz, Harry C; Michaelis, Susan

    2013-07-01

    Hutchinson-Gilford Progeria Syndrome (HGPS) is a premature aging disorder caused by mutations in LMNA, which encodes the nuclear scaffold proteins lamin A and C. In HGPS and related progerias, processing of prelamin A is blocked at a critical step mediated by the zinc metalloprotease ZMPSTE24. LMNA-linked progerias can be grouped into two classes: (1) the processing-deficient, early onset "typical" progerias (e.g., HGPS), and (2) the processing-proficient "atypical" progeria syndromes (APS) that are later in onset. Here we describe a previously unrecognized progeria syndrome with prominent cutaneous and cardiovascular manifestations belonging to the second class. We suggest the name LMNA-associated cardiocutaneous progeria syndrome (LCPS) for this disorder. Affected patients are normal at birth but undergo progressive cutaneous changes in childhood and die in middle age of cardiovascular complications, including accelerated atherosclerosis, calcific valve disease, and cardiomyopathy. In addition, the proband demonstrated cancer susceptibility, a phenotype rarely described for LMNA-based progeria disorders. The LMNA mutation that caused LCPS in this family is a heterozygous c.899A>G (p.D300G) mutation predicted to alter the coiled-coil domain of lamin A/C. In skin fibroblasts isolated from the proband, the processing and levels of lamin A and C are normal. However, nuclear morphology is aberrant and rescued by treatment with farnesyltransferase inhibitors, as is also the case for HGPS and other laminopathies. Our findings advance knowledge of human LMNA progeria syndromes, and raise the possibility that typical and atypical progerias may converge upon a common mechanism to cause premature aging disease.

  8. Radiological Diagnosis of a Rare Premature Aging Genetic Disorder: Progeria (Hutchinson-Gilford Syndrome

    Directory of Open Access Journals (Sweden)

    Haji Mohammed Nazir

    2017-01-01

    Full Text Available Hutchinson-Gilford Progeria Syndrome (HGPS is a rare disease with a combination of short stature, bone abnormalities, premature ageing, and skin changes. Though the physical appearance of these patients is characteristic, there is little emphasis on the characteristic radiological features. In this paper, we report a 16-year-old boy with clinical and radiological features of this rare genetic disorder. He had a characteristic facial appearance with a large head, large eyes, thin nose with beaked tip, small chin, protruding ears, prominent scalp veins, and absence of hair.

  9. The relationship between premature ageing and immune responses in the oral cavity of Down syndrome

    Directory of Open Access Journals (Sweden)

    Yoko Tanaka

    2010-02-01

    Full Text Available Down syndrome (DS is the most common chromosomal disorder resulting in various abnormalities such as mental retardation, immunodeficiency and physical abnormities. Especially, abnormality of the immune function is important pathological features in this syndrome, and leads to increased susceptibility to viral or bacterial infections. Interestingly, several studies have showed that they have high susceptibility of severe periodontal disease, even though they have lower or equal prevalence of dental caries. Many studies have attempted to clarify this phenomenon but it remains unsolved. It is also well known that DS is a premature ageing syndrome. DS has been considered as a model of precocious, abnormal ageing of immune function in human. Age-related declines in immune function cause more susceptibility to infections in the elderly. In addition, it is well known that ageing is related with telomere shortening. Furthermore, DS has an accelerated telomere shortening. However, there are only a few reports that focus on the relations among ageing, telomere length and high susceptibility of oral infectious disease in individuals with DS. Therefore, we summarize our current knowledge on the relations between the oral disease and immunodeficiency in individuals with DS taking account of telomere shortening and ageing.

  10. Telomerase Protects Werner Syndrome Lineage-Specific Stem Cells from Premature Aging

    Directory of Open Access Journals (Sweden)

    Hoi-Hung Cheung

    2014-04-01

    Full Text Available Werner syndrome (WS patients exhibit premature aging predominantly in mesenchyme-derived tissues, but not in neural lineages, a consequence of telomere dysfunction and accelerated senescence. The cause of this lineage-specific aging remains unknown. Here, we document that reprogramming of WS fibroblasts to pluripotency elongated telomere length and prevented telomere dysfunction. To obtain mechanistic insight into the origin of tissue-specific aging, we differentiated iPSCs to mesenchymal stem cells (MSCs and neural stem/progenitor cells (NPCs. We observed recurrence of premature senescence associated with accelerated telomere attrition and defective synthesis of the lagging strand telomeres in MSCs, but not in NPCs. We postulate this “aging” discrepancy is regulated by telomerase. Expression of hTERT or p53 knockdown ameliorated the accelerated aging phenotypein MSC, whereas inhibition of telomerase sensitized NPCs to DNA damage. Our findings unveil a role for telomerase in the protection of accelerated aging in a specific lineage of stem cells.

  11. MECHANISMS OF PREMATURE VASCULAR AGING IN CHILDREN WITH HUTCHINSON-GILFORD PROGERIA SYNDROME

    Science.gov (United States)

    Gerhard-Herman, Marie; Smoot, Leslie B.; Wake, Nicole; Kieran, Mark W.; Kleinman, Monica E.; Miller, David T.; Schwartzman, Armin; Giobbie-Hurder, Anita; Neuberg, Donna; Gordon, Leslie B.

    2011-01-01

    Hutchinson-Gilford progeria syndrome (HGPS) is a rare, segmental premature aging syndrome of accelerated atherosclerosis and early death from myocardial infarction or stroke. This study sought to establish comprehensive characterization of the fatal vasculopathy in HGPS and its relevance to normal aging. We performed cardiovascular assessments at a single clinical site on the largest prospectively studied cohort to date. Carotid-femoral pulse wave velocity was dramatically elevated (mean 13.00±3.83 m/s). Carotid duplex ultrasound echobrightness, assessed in predefined tissue sites as a measure of arterial wall density, was significantly greater than age- and gender-matched controls in the intima-media (P<0.02), near adventitia (P<0.003) and deep adventitia (P<0.01), as was internal carotid artery mean flow velocity (p<0.0001). Ankle-brachial indices were abnormal in 78% of patients. Effective disease treatments may be heralded by normalizing trends of these noninvasive cardiovascular measures. The data demonstrates that, along with peripheral vascular occlusive disease, accelerated vascular stiffening is an early and pervasive mechanism of vascular disease in HGPS. There is considerable overlap with cardiovascular changes of normal aging, which reinforces the view that defining mechanisms of cardiovascular disease in HGPS provides a unique opportunity to isolate a subset of factors influencing cardiovascular disease in the general aging population. PMID:22083160

  12. Investigation into the human premature ageing disease, Hutchinson Gilford Progeria syndrome, using hTERT immortalised fibroblasts

    OpenAIRE

    Worthington, Gemma Louise

    2016-01-01

    This thesis was submitted for the award of Doctor of Philosophy and was awarded by Brunel University London Hutchinson Gilford Progeria syndrome (HGPS) is a rare premature ageing disease affecting children. 80% of “classic” HGPS patients share the same mutation in the LMNA gene that gives rise to characteristics similar to normal human ageing and they usually die in their teens from heart attacks or strokes. Cells taken from progeria patients have a short replicative lifespan in culture an...

  13. Nuclear matrix, nuclear envelope and premature aging syndromes in a translational research perspective.

    Science.gov (United States)

    Cau, Pierre; Navarro, Claire; Harhouri, Karim; Roll, Patrice; Sigaudy, Sabine; Kaspi, Elise; Perrin, Sophie; De Sandre-Giovannoli, Annachiara; Lévy, Nicolas

    2014-05-01

    Lamin A-related progeroid syndromes are genetically determined, extremely rare and severe. In the past ten years, our knowledge and perspectives for these diseases has widely progressed, through the progressive dissection of their pathophysiological mechanisms leading to precocious and accelerated aging, from the genes mutations discovery until therapeutic trials in affected children. A-type lamins are major actors in several structural and functional activities at the nuclear periphery, as they are major components of the nuclear lamina. However, while this is usually poorly considered, they also play a key role within the rest of the nucleoplasm, whose defects are related to cell senescence. Although nuclear shape and nuclear envelope deformities are obvious and visible events, nuclear matrix disorganization and abnormal composition certainly represent the most important causes of cell defects with dramatic pathological consequences. Therefore, lamin-associated diseases should be better referred as laminopathies instead of envelopathies, this later being too restrictive, considering neither the key structural and functional roles of soluble lamins in the entire nucleoplasm, nor the nuclear matrix contribution to the pathophysiology of lamin-associated disorders and in particular in defective lamin A processing-associated aging diseases. Based on both our understanding of pathophysiological mechanisms and the biological and clinical consequences of progeria and related diseases, therapeutic trials have been conducted in patients and were terminated less than 10 years after the gene discovery, a quite fast issue for a genetic disease. Pharmacological drugs have been repurposed and used to decrease the toxicity of the accumulated, unprocessed and truncated prelaminA in progeria. To date, none of them may be considered as a cure for progeria and these clinical strategies were essentially designed toward reducing a subset of the most dramatic and morbid features

  14. Progeria: A rare genetic premature ageing disorder

    OpenAIRE

    Jitendra Kumar Sinha; Shampa Ghosh; Manchala Raghunath

    2014-01-01

    Progeria is characterized by clinical features that mimic premature ageing. Although the mutation responsible for this syndrome has been deciphered, the mechanism of its action remains elusive. Progeria research has gained momentum particularly in the last two decades because of the possibility of revealing evidences about the ageing process in normal and other pathophysiological conditions. Various experimental models, both in vivo and in vitro, have been developed in an effort to understand...

  15. Néstor-Guillermo progeria syndrome: a novel premature aging condition with early onset and chronic development caused by BANF1 mutations.

    Science.gov (United States)

    Cabanillas, Rubén; Cadiñanos, Juan; Villameytide, José A F; Pérez, Mercedes; Longo, Jesús; Richard, José M; Alvarez, Rebeca; Durán, Noelia S; Illán, Rafael; González, Daniel J; López-Otín, Carlos

    2011-11-01

    Progeria syndromes are rare disorders that involve premature aging. Mutations in BANF1 have been recently reported to cause a new hereditary progeroid syndrome that we now propose to call the Néstor-Guillermo progeria syndrome (NGPS). We describe herein the clinical features of the first two NGPS patients, who phenocopy features of classic progerias (i.e., Hutchinson-Gilford progeria syndrome or mandibuloacral dysplasia), such as aged appearance, growth retardation, decreased subcutaneous fat, thin limbs, and stiff joints. However, these NGPS patients have a distinctive phenotype. In their early adulthood (32 and 24 years of age), they have no signs of cardiovascular impairment, diabetes mellitus, or hypertriglyceridemia. In contrast, they suffer profound skeletal abnormalities that affect their quality of life. The observed differences are of utmost importance to patients and their families and palliation of osseous manifestations is a priority, given their relatively long lifespan. We define NGPS as a chronic progeria because of its slow clinical course and relatively long survival, despite its early onset. Understanding the differences between progeria syndromes might contribute to the development of treatment strategies for common skeletal conditions, as well as aging itself.

  16. Progeria: a rare genetic premature ageing disorder.

    Science.gov (United States)

    Sinha, Jitendra Kumar; Ghosh, Shampa; Raghunath, Manchala

    2014-05-01

    Progeria is characterized by clinical features that mimic premature ageing. Although the mutation responsible for this syndrome has been deciphered, the mechanism of its action remains elusive. Progeria research has gained momentum particularly in the last two decades because of the possibility of revealing evidences about the ageing process in normal and other pathophysiological conditions. Various experimental models, both in vivo and in vitro, have been developed in an effort to understand the cellular and molecular basis of a number of clinically heterogeneous rare genetic disorders that come under the umbrella of progeroid syndromes (PSs). As per the latest clinical trial reports, Lonafarnib, a farnesyltranferase inhibitor, is a potent 'drug of hope' for Hutchinson-Gilford progeria syndrome (HGPS) and has been successful in facilitating weight gain and improving cardiovascular and skeletal pathologies in progeroid children. This can be considered as the dawn of a new era in progeria research and thus, an apt time to review the research developments in this area highlighting the molecular aspects, experimental models, promising drugs in trial and their implications to gain a better understanding of PSs.

  17. Progeria: A rare genetic premature ageing disorder

    Directory of Open Access Journals (Sweden)

    Jitendra Kumar Sinha

    2014-01-01

    Full Text Available Progeria is characterized by clinical features that mimic premature ageing. Although the mutation responsible for this syndrome has been deciphered, the mechanism of its action remains elusive. Progeria research has gained momentum particularly in the last two decades because of the possibility of revealing evidences about the ageing process in normal and other pathophysiological conditions. Various experimental models, both in vivo and in vitro, have been developed in an effort to understand the cellular and molecular basis of a number of clinically heterogeneous rare genetic disorders that come under the umbrella of progeroid syndromes (PSs. As per the latest clinical trial reports, Lonafarnib, a farnesyltranferase inhibitor, is a potent ′drug of hope′ for Hutchinson-Gilford progeria syndrome (HGPS and has been successful in facilitating weight gain and improving cardiovascular and skeletal pathologies in progeroid children. This can be considered as the dawn of a new era in progeria research and thus, an apt time to review the research developments in this area highlighting the molecular aspects, experimental models, promising drugs in trial and their implications to gain a better understanding of PSs.

  18. The epidemiology of premature aging and associated comorbidities

    Directory of Open Access Journals (Sweden)

    Coppedè F

    2013-08-01

    Full Text Available Fabio Coppedè Department of Translational Research and New Technologies in Medicine and Surgery, University of Pisa, Pisa, Italy Abstract: Hutchinson–Gilford Progeria Syndrome and Werner syndrome, also known as childhood- and adulthood-progeria, respectively, represent two of the best characterized human progeroid diseases with clinical features mimicking physiological aging at an early age. The discovery of their genetic basis has led to the identification of several gene mutations leading to a spectrum of progeroid phenotypes ranging from moderate and mild–severe to very aggressive forms. In parallel, the creation of disease registers and databases provided available data for the design of relatively large-scale epidemiological studies, thereby allowing a better understanding of the nature and frequency of the premature aging-associated signs and symptoms. The aim of this article is to review the most recent findings concerning the epidemiology of premature aging disorders, their genetic basis, and the most recent reports on the frequency of associated diseases. Keywords: Hutchinson–Gilford Progeria Syndrome, Werner syndrome, premature aging disorders, epidemiology, cardiovascular diseases, cancer, atherosclerosis, genetics, sign and symptoms

  19. Mutations in EXOSC2 are associated with a novel syndrome characterised by retinitis pigmentosa, progressive hearing loss, premature ageing, short stature, mild intellectual disability and distinctive gestalt.

    Science.gov (United States)

    Di Donato, Nataliya; Neuhann, Teresa; Kahlert, Anne-Karin; Klink, Barbara; Hackmann, Karl; Neuhann, Irmingard; Novotna, Barbora; Schallner, Jens; Krause, Claudia; Glass, Ian A; Parnell, Shawn E; Benet-Pages, Anna; Nissen, Anke M; Berger, Wolfgang; Altmüller, Janine; Thiele, Holger; Weber, Bernhard H F; Schrock, Evelin; Dobyns, William B; Bier, Andrea; Rump, Andreas

    2016-06-01

    Retinitis pigmentosa in combination with hearing loss can be a feature of different Mendelian disorders. We describe a novel syndrome caused by biallelic mutations in the 'exosome component 2' (EXOSC2) gene. Clinical ascertainment of three similar affected patients followed by whole exome sequencing. Three individuals from two unrelated German families presented with a novel Mendelian disorder encompassing childhood myopia, early onset retinitis pigmentosa, progressive sensorineural hearing loss, hypothyroidism, short stature, brachydactyly, recognisable facial gestalt, premature ageing and mild intellectual disability. Whole exome sequencing revealed homozygous or compound heterozygous missense variants in the EXOSC2 gene in all three patients. EXOSC2 encodes the 'ribosomal RNA-processing protein 4' (RRP4)-one of the core components of the RNA exosome. The RNA exosome is a multiprotein complex that plays key roles in RNA processing and degradation. Intriguingly, the EXOSC2-associated phenotype shows only minimal overlap with the previously reported diseases associated with mutations in the RNA exosome core component genes EXOSC3 and EXOSC8. We report a novel condition that is probably caused by altered RNA exosome function and expands the spectrum of clinical consequences of impaired RNA metabolism. Published by the BMJ Publishing Group Limited. For permission to use (where not already granted under a licence) please go to http://www.bmj.com/company/products-services/rights-and-licensing/

  20. Cloned Sheep May Age Prematurely

    Institute of Scientific and Technical Information of China (English)

    Joseph; B.Verrengia; 孙颖

    1999-01-01

    1996年的头条科技新闻之一是:多利羊被克隆成功。世人曾为消息雀跃,以为克隆技术马上可以造福人类了,而且科幻作家也开始忙碌起来。而今,当多利羊过3岁生日时,人们却伤感地发现: In Dolly’s case,she is 3,but her genetic material is aging at the rate of the6-year-old sheep from which she was cloned. 这就是所谓aging prematurely。这则消息给人们带来的忧虑有两条。一是:被克隆的动物的预期寿命比人们想象的要短;二是:人们是否能够有效利用克隆的人体细胞去治疗疾病。目前,科学家们的担心还是集中于后者。本书收入的另一篇有关克隆的文章(It’s A Boy!Scientists Clone First Male Mammal)和本篇构成了强烈的对照,可谓一喜一忧。然而,无论喜忧,人类在克隆技术方面正在以坚实的步伐向前迈进。

  1. Ichthyosis prematurity syndrome: a well-defined congenital ichthyosis subtype

    DEFF Research Database (Denmark)

    Bygum, Anette; Westermark, Per; Brandrup, Flemming

    2008-01-01

    . The parents recalled that his elder sister had similar but milder skin changes and respiratory distress syndrome at birth. Ichthyosis prematurity syndrome was suggested and the diagnosis supported by electron microscopy of a skin biopsy specimen showing pathognomonic trilamellar membrane aggregations...... birth he developed respiratory distress and needed intubation. Remarkable skin changes were noticed with universal red, edematous and desquamating, spongy skin giving an impression of excessive vernix caseosa. Marked regression of the edema and ichthyotic scaling was observed within a few weeks......Ichthyosis prematurity syndrome is a rare syndrome characterized by the clinical triad of premature birth, thick caseous desquamating epidermis, and neonatal asphyxia. We describe two siblings with ichthyosis prematurity syndrome. The index patient was born at gestational week 34. Immediately after...

  2. Premature and accelerated ageing: HIV or HAART?

    Directory of Open Access Journals (Sweden)

    Reuben Luke Smith

    2013-01-01

    Full Text Available Highly Active Anti-Retroviral Therapy (HAART has significantly increased life expectancy of the HIV-positive population. Nevertheless, the average lifespan of HIV patients remains shorter compared to uninfected individuals. Immunosenescence, a current explanation for this difference invokes heavily on viral stimulus despite HAART efficiency in viral suppression. We propose here that the premature and accelerated ageing of HIV patients can also be caused by adverse effects of antiretroviral drugs, specifically those that affect the mitochondria. The Nucleoside Reverse Transcriptase Inhibitor (NRTI antiretroviral drug class for instance, is known to cause depletion of mitochondrial DNA via inhibition of the mitochondrial specific DNA polymerase-ƴ. Besides NRTIs, other antiretroviral drug classes such as Protease Inhibitors also cause severe mitochondrial damage by increasing oxidative stress and diminishing mitochondrial function. We also discuss important areas for future research and argue in favour of the use of C. elegans as a novel model system for studying these effects.

  3. Molecular insights into the premature aging disease progeria.

    Science.gov (United States)

    Vidak, Sandra; Foisner, Roland

    2016-04-01

    Hutchinson-Gilford progeria syndrome (HGPS) is an extremely rare premature aging disease presenting many features resembling the normal aging process. HGPS patients die before the age of 20 years due to cardiovascular problems and heart failure. HGPS is linked to mutations in the LMNA gene encoding the intermediate filament protein lamin A. Lamin A is a major component of the nuclear lamina, a scaffold structure at the nuclear envelope that defines mechanochemical properties of the nucleus and is involved in chromatin organization and epigenetic regulation. Lamin A is also present in the nuclear interior where it fulfills lamina-independent functions in cell signaling and gene regulation. The most common LMNA mutation linked to HGPS leads to mis-splicing of the LMNA mRNA and produces a mutant lamin A protein called progerin that tightly associates with the inner nuclear membrane and affects the dynamic properties of lamins. Progerin expression impairs many important cellular processes providing insight into potential disease mechanisms. These include changes in mechanosignaling, altered chromatin organization and impaired genome stability, and changes in signaling pathways, leading to impaired regulation of adult stem cells, defective extracellular matrix production and premature cell senescence. In this review, we discuss these pathways and their potential contribution to the disease pathologies as well as therapeutic approaches used in preclinical and clinical tests.

  4. Premature aging in telomerase-deficient zebrafish

    Directory of Open Access Journals (Sweden)

    Monique Anchelin

    2013-09-01

    The study of telomere biology is crucial to the understanding of aging and cancer. In the pursuit of greater knowledge in the field of human telomere biology, the mouse has been used extensively as a model. However, there are fundamental differences between mouse and human cells. Therefore, additional models are required. In light of this, we have characterized telomerase-deficient zebrafish (Danio rerio as the second vertebrate model for human telomerase-driven diseases. We found that telomerase-deficient zebrafish show p53-dependent premature aging and reduced lifespan in the first generation, as occurs in humans but not in mice, probably reflecting the similar telomere length in fish and humans. Among these aging symptoms, spinal curvature, liver and retina degeneration, and infertility were the most remarkable. Although the second-generation embryos died in early developmental stages, restoration of telomerase activity rescued telomere length and survival, indicating that telomerase dosage is crucial. Importantly, this model also reproduces the disease anticipation observed in humans with dyskeratosis congenita (DC. Thus, telomerase haploinsufficiency leads to anticipation phenomenon in longevity, which is related to telomere shortening and, specifically, with the proportion of short telomeres. Furthermore, p53 was induced by telomere attrition, leading to growth arrest and apoptosis. Importantly, genetic inhibition of p53 rescued the adverse effects of telomere loss, indicating that the molecular mechanisms induced by telomere shortening are conserved from fish to mammals. The partial rescue of telomere length and longevity by restoration of telomerase activity, together with the feasibility of the zebrafish for high-throughput chemical screening, both point to the usefulness of this model for the discovery of new drugs able to reactivate telomerase in individuals with DC.

  5. Congenital staphylococcal scalded skin syndrome in a premature infant

    NARCIS (Netherlands)

    Haveman, LM; Fleer, A; de Vries, LS; Gerards, LJ

    2004-01-01

    A case of congenital staphylococcal scalded skin syndrome (SSSS) with fatal outcome in a premature infant is reported. An intrauterine infection with Staphylococcus aureus was probably the cause for the fulminant course of the disease. Despite adequate antibiotic treatment, the infant died within 24

  6. Premature birth and age at onset of puberty.

    Science.gov (United States)

    Hui, Lai Ling; Leung, Gabriel M; Lam, Tai Hing; Schooling, C Mary

    2012-05-01

    Premature birth is associated with poor metabolic health in both sexes, potentially via earlier pubertal timing. We examined the associations of gestational age and premature birth (Premature girls reached puberty about 4 months later than girls with ≥ 41 weeks' gestation (time ratio = 1.04 [95% confidence interval = 1.01-1.06]), adjusted for mother' age of menarche, mother's place of birth, and smoking during pregnancy. Gestational age was not associated with onset of puberty in boys (test for interaction by sex, P Premature birth was not related to earlier onset of puberty; instead, premature girls had later onset of puberty. Thus, the association between premature birth and subsequent cardiovascular risk is probably not mediated through the timing of pubertal onset. It is unclear whether onset, duration, or tempo of puberty is more relevant to the detrimental consequences of early puberty. Further studies investigating intrauterine, infant, and childhood influences on the duration and tempo of puberty may help unravel the early origins of cardiovascular diseases.

  7. Chediak-Higashi syndrome and premature exfoliation of primary teeth.

    Science.gov (United States)

    Rezende, Karla Mayra; Canela, Alfredo Hiram Carrillo; Ortega, Adriana Oliveira Lira; Tintel, Claudia; Bönecker, Marcelo

    2013-01-01

    The Chediak-Higashi syndrome (CHS) is a rare hereditary fatal disease, if not treated. These changes are associated with various diseases and syndromes that mainly cause periodontal disease and thus the premature loss of teeth. This paper describes the monitoring of premature loss of primary teeth that began when the child was 5 years old. On presentation his teeth were mobile and there was a history of gingival bleeding. Panoramic radiography revealed generalized and severe bone loss, and the teeth showed no bony support enough for their stability. Blood test was ordered to assess the overall health of the child and giant cells with cytoplasmic granules were found, confirming the diagnosis of CHS. The management of periodontal disease focused on the control of infection and bacterial plaque by mechanical and chemical methods.

  8. Median age at death as an indicator of premature mortality

    OpenAIRE

    Jannerfeldt, Eric; Hörte, Lars-Gunnar

    1988-01-01

    The median age at death from certain diseases was calculated for each year for 1969-85 and compared with that at death from all causes. The results indicated the impact of these diseases in terms of premature mortality and changes over time. Cancer was a more important cause of premature mortality among women than among men. For cancer of the cervix the median age at death increased appreciably whereas for cancer of the lung in women it slightly decreased. The median age at death is easy to c...

  9. Specific premature epigenetic aging of cartilage in osteoarthritis

    Science.gov (United States)

    Vidal-Bralo, Laura; Lopez-Golan, Yolanda; Mera-Varela, Antonio; Rego-Perez, Ignacio; Horvath, Steve; Zhang, Yuhua; del Real, Álvaro; Zhai, Guangju; Blanco, Francisco J; Riancho, Jose A.; Gomez-Reino, Juan J; Gonzalez, Antonio

    2016-01-01

    Osteoarthritis (OA) is a disease affecting multiple tissues of the joints in the elderly, but most notably articular cartilage. Premature biological aging has been described in this tissue and in blood cells, suggesting a systemic component of premature aging in the pathogenesis of OA. Here, we have explored epigenetic aging in OA at the local (cartilage and bone) and systemic (blood) levels. Two DNA methylation age-measures (DmAM) were used: the multi-tissue age estimator for cartilage and bone; and a blood-specific biomarker for blood. Differences in DmAM between OA patients and controls showed an accelerated aging of 3.7 years in articular cartilage (95 % CI = 1.1 to 6.3, P = 0.008) of OA patients. By contrast, no difference in epigenetic aging was observed in bone (0.04 years; 95 % CI = −1.8 to 1.9, P = 0.3) and in blood (−0.6 years; 95 % CI = −1.5 to 0.3, P = 0.2) between OA patients and controls. Therefore, premature epigenetic aging according to DNA methylation changes was specific of OA cartilage, adding further evidence and insight on premature aging of cartilage as a component of OA pathogenesis that reflects damage and vulnerability. PMID:27689435

  10. Premature Birth with Complicated Perinatal Course Delaying Diagnosis of Prader-Willi Syndrome

    Science.gov (United States)

    Ciana, G.; Fertz, M. C.; Pecile, V.; Demarini, S.

    2011-01-01

    Prader-Willi syndrome in the newborn is essentially characterized by marked hypotonia, feeding difficulties, hypogonadism, and possible characteristic facial features. However, diagnosis at this age may be particularly difficult, and dysmorphic features may be subtle or absent. Prematurity can furthermore delay clinical features recognition and typical complications due to preterm birth may contribute to divert the diagnosis. We describe a preterm baby with a complicated perinatal course later diagnosed as PWS. PMID:22606524

  11. Premature Birth with Complicated Perinatal Course Delaying Diagnosis of Prader-Willi Syndrome

    Directory of Open Access Journals (Sweden)

    G. Ciana

    2011-01-01

    Full Text Available Prader-Willi syndrome in the newborn is essentially characterized by marked hypotonia, feeding difficulties, hypogonadism, and possible characteristic facial features. However, diagnosis at this age may be particularly difficult, and dysmorphic features may be subtle or absent. Prematurity can furthermore delay clinical features recognition and typical complications due to preterm birth may contribute to divert the diagnosis. We describe a preterm baby with a complicated perinatal course later diagnosed as PWS.

  12. Premature aging and cancer in nucleotide excision repair-disorders

    NARCIS (Netherlands)

    K.E.M. Diderich (Karin); M. Alanazi; J.H.J. Hoeijmakers (Jan)

    2011-01-01

    textabstractDuring the past decades, the major impact of DNA damage on cancer as 'disease of the genes' has become abundantly apparent. In addition to cancer, recent years have also uncovered a very strong association of DNA damage with many features of (premature) aging. The notion that DNA repair

  13. Impact of prematurity on language skills at school age.

    Science.gov (United States)

    Smith, Jamie Mahurin; DeThorne, Laura Segebart; Logan, Jessica A R; Channell, Ron W; Petrill, Stephen A

    2014-06-01

    The existing literature on language outcomes in children born prematurely focuses almost exclusively on standardized test scores rather than discourse-level abilities. The authors of this study looked longitudinally at school-age language outcomes and potential moderating variables for a group of twins born prematurely versus a control group of twins born at full term, analyzing both standardized test results and language sample data from the population-based Western Reserve Reading Project (WRRP; Petrill, Deater-Deckard, Thompson, DeThorne, & Schatschneider, 2006). Fifty-seven children born prematurely, at ≤32 weeks or children born at full term and were matched for age, gender, race, and parental education. Data included discourse-level language samples and standardized test results, collected at average ages 7, 8, and 10 years. The language samples were analyzed to yield a number of semantic and syntactic measures that were consolidated via factor analysis. Regression models showed significant differences between the 2 groups for standardized test results, although the mean score for both groups fell in the normal range. For the discourse-level language measures, however, differences never reached statistical significance. Parental education was significantly associated with improved standardized test scores. These findings suggest that in the absence of frank neurological impairment, sophisticated semantic and syntactic skills may be relatively intact in the discourse-level language of children born prematurely. Implications for assessment, particularly the potential role of attention and executive function in standardized testing tasks, are reviewed.

  14. Mechanisms of cardiovascular disease in accelerated aging syndromes.

    Science.gov (United States)

    Capell, Brian C; Collins, Francis S; Nabel, Elizabeth G

    2007-07-06

    In the past several years, remarkable progress has been made in the understanding of the mechanisms of premature aging. These rare, genetic conditions offer valuable insights into the normal aging process and the complex biology of cardiovascular disease. Many of these advances have been made in the most dramatic of these disorders, Hutchinson-Gilford progeria syndrome. Although characterized by features of normal aging such as alopecia, skin wrinkling, and osteoporosis, patients with Hutchinson-Gilford progeria syndrome are affected by accelerated, premature arteriosclerotic disease that leads to heart attacks and strokes at a mean age of 13 years. In this review, we highlight recent advances in the biology of premature aging uncovered in Hutchinson-Gilford progeria syndrome and other accelerated aging syndromes, advances that provide insight into the mechanisms of cardiovascular diseases ranging from atherosclerosis to arrhythmias.

  15. Premature ovarian failure (POF): discordance between somatic and reproductive aging.

    Science.gov (United States)

    Pal, Lubna; Santoro, Nanette

    2002-06-01

    Premature ovarian failure (POF) is a unique example of isolated organ senescence, with a population prevalence of approximately 1%. Though the phenotypic expression of POF is similar to that of age-appropriate natural menopause, the underlying pathophysiological mechanisms are diverse and not entirely clear. The impact of POF on the patient is profound, with myriad ramifications, ranging from psychological devastation to multi-system implications of estrogen deprivation and its sequelae. The hastening of degenerative changes noted in these patients however, are not entirely ameliorated with estrogen replacement and POF may indeed represent an acceleration of the aging process.

  16. Risk factors for premature death in middle aged men

    OpenAIRE

    Petersson, Bo; Trell, Erik; Henningsen, Nels-Christian; Hood, Bertil

    1984-01-01

    The causes of premature death and the associated risk factors were analysed in a cohort of 7935 middle aged men participating in a preventive population programme in Malmö. They were screened when aged 46-48 and then followed up for 3½-8 years. Two hundred and eighteen died, of whom 181 (83%) underwent necropsy. Three major causes of death were established: cancer in 61 (28%), deaths related to consumption of alcohol in 55 (25%), and coronary heart disease in 50 (23%).

  17. Premature ageing prevention: limitations and perspectives of pharmacological interventions.

    Science.gov (United States)

    Anisimov, Vladimir N

    2006-11-01

    A significant increase of the elderly in populations of developed countries is followed by increase morbidity and mortality from main age-related diseases--cardiovascular and neuro-degenerative, cancer, diabetes mellitus, declining in a resistance to infections. Obviously, the development of means of the prevention of the premature ageing and these diseases in humans are crucial at present. However, data on such type means rather scarce, contradictory and often not reliable from the points of view of the adequacy of the experiments to current scientific requirements, as well as the interpretation of the results and safety. Available data on the life span extension and adverse effects of chemical compounds and drugs suggested as geroprotectors are critically analyzed: antidiabetic drugs, growth and thyroid hormones, glucocorticoids, DHEA, sex steroids and contraceptives, melatonin and peptide preparations modulating the pineal gland, antioxidants, chelate agents and lathyrogens, adaptogens and herbs, neurotropic drugs, inhibitors of monoamine oxidase, immunomodulators and some other. Most of the results could not convincingly evidence the life span extension and safety of the suggested geroprotectors. We believe that it is necessary to establish an international program for the expert evaluation of the life span extension potential of pharmacological interventions for humans. The scope of the program should be to evaluate chemical, immunological, dietary and behavioural interventions that may lead to life span extension or retard premature ageing and the objective--preparation of critical reviews and evaluations on evidence of the life span extending properties of a wide range of potential geroprotectors and strategies by international groups of working experts. The program may assist national and international authorities in devising programs of health promotion and premature ageing prevention.

  18. Cellular senescence in normal and premature lung aging.

    Science.gov (United States)

    Bartling, B

    2013-10-01

    The incidence of chronic respiratory diseases (e.g., chronic obstructive pulmonary disease, COPD) and interstitial lung diseases (e.g., pneumonia and lung fibrosis) increases with age. In addition to immune senescence, the accumulation of senescent cells directly in lung tissue might play a critical role in the increased prevalence of these pulmonary diseases. In the last couple of years, detailed studies have identified the presence of senescent cells in the aging lung and in diseased lungs of patients with COPD and lung fibrosis. Cellular senescence has been shown for epithelial cells of bronchi and alveoli as well as mesenchymal and vascular cells. Known risk factors for pulmonary diseases (cigarette smoke, air pollutions, bacterial infections, etc.) were identified in experimental studies as being possible mediators in the development of cellular senescence. The present findings indicate the importance of cellular senescence in normal lung aging and in premature aging of the lung in patients with COPD, lung fibrosis, and probably other respiratory diseases.

  19. Atypical aging in Down syndrome.

    Science.gov (United States)

    Zigman, Warren B

    2013-01-01

    At present, there may be over 210,000 people with Down syndrome (DS) over the age of 55 in the United States (US) who have significant needs for augmented services due to circumstances related to ordinary and/or pathological aging. From 1979 through 2003, the birth prevalence of DS rose from 9.0 to 11.8 (31.1%) per 10,000 live births in 10 representative US regions. This increase, largely due to women conceiving after age 35, portends an ever-growing population of people with DS who may be subject to pathogenic aging. Whereas Trisomy 21 is one of the most widespread genetic causes of intellectual disability (ID), it still is one of the least understood of all genetic ID syndromes. While longevity in people with DS has improved appreciably in as modest a period as 30 years, age-specific risk for mortality still is considerably increased compared both with other people with ID or with the typically developing population. The penetrance of the phenotype is widely distributed, even though a consistent genotype is assumed in 95% of the cases. Some, but not all body systems, exhibit signs of premature or accelerated aging. This may be due to both genetic and epigenetic inheritance. We now know that the long-term outcome for people with DS is not as ominous as once contemplated; a number of people with DS are living into their late 60s and 70s with few if any major signs of pathogenic aging. Alzheimer's disease (AD), a devastating disease that robs a person of their memory, abilities and personality, is particularly common in elder adults with DS, but is not a certainty as originally thought, some 20% to 30% of elder adults with DS might never show any, or at most mild signs of AD. DS has been called a mature well-understood syndrome, not in need of further research or science funding. We are only beginning to understand how epigenetics affects the phenotype and it may be feasible in the future to alter the phenotype through epigenetic interventions. This chapter is

  20. Surfactant treatment in premature infants with Respiratory Distress Syndrome in Curacao

    NARCIS (Netherlands)

    Verhagen, AAE; Keli, SO; van der Meulen, GN; Wiersma, H; Arias, M; Angelista, IR; Muskiet, FD

    2001-01-01

    Surfactant replacement therapy for Respiratory Distress Syndrome (RDS) in premature neonates has been established as an effective treatment, although significant mortality and morbidity remain. In Curacao, surfactant became available as a therapeutic option in 1994. A retrospective cohort study was

  1. Blood cell mitochondrial DNA content and premature ovarian aging.

    Directory of Open Access Journals (Sweden)

    Marco Bonomi

    Full Text Available Primary ovarian insufficiency (POI is a critical fertility defect characterized by an anticipated and silent impairment of the follicular reserve, but its pathogenesis is largely unexplained. The frequent maternal inheritance of POI together with a remarkable dependence of ovarian folliculogenesis upon mitochondrial biogenesis and bioenergetics suggested the possible involvement of a generalized mitochondrial defect. Here, we verified the existence of a significant correlation between blood and ovarian mitochondrial DNA (mtDNA content in a group of women undergoing ovarian hyperstimulation (OH, and then aimed to verify whether mtDNA content was significantly altered in the blood cells of POI women. We recruited 101 women with an impaired ovarian reserve: 59 women with premature ovarian failure (POF and 42 poor responders (PR to OH. A Taqman copy number assay revealed a significant mtDNA depletion (P<0.001 in both POF and PR women in comparison with 43 women of similar age and intact ovarian reserve, or 53 very old women with a previous physiological menopause. No pathogenic variations in the mitochondrial DNA polymerase γ (POLG gene were detected in 57 POF or PR women with low blood mtDNA content. In conclusion, blood cell mtDNA depletion is a frequent finding among women with premature ovarian aging, suggesting that a still undetermined but generalized mitochondrial defect may frequently predispose to POI which could then be considered a form of anticipated aging in which the ovarian defect may represent the first manifestation. The determination of mtDNA content in blood may become an useful tool for the POI risk prediction.

  2. Blood Cell Mitochondrial DNA Content and Premature Ovarian Aging

    Science.gov (United States)

    Cacciatore, Chiara; Busnelli, Marta; Rossetti, Raffaella; Bonetti, Silvia; Paffoni, Alessio; Mari, Daniela; Ragni, Guido; Persani, Luca; Arosio, M.; Beck-Peccoz, P.; Biondi, M.; Bione, S.; Bruni, V.; Brigante, C.; Cannavo`, S.; Cavallo, L.; Cisternino, M.; Colombo, I.; Corbetta, S.; Crosignani, P.G.; D'Avanzo, M.G.; Dalpra, L.; Danesino, C.; Di Battista, E.; Di Prospero, F.; Donti, E.; Einaudi, S.; Falorni, A.; Foresta, C.; Fusi, F.; Garofalo, N.; Giotti, I.; Lanzi, R.; Larizza, D.; Locatelli, N.; Loli, P.; Madaschi, S.; Maghnie, M.; Maiore, S.; Mantero, F.; Marozzi, A.; Marzotti, S.; Migone, N.; Nappi, R.; Palli, D.; Patricelli, M.G.; Pisani, C.; Prontera, P.; Petraglia, F.; Radetti, G.; Renieri, A.; Ricca, I.; Ripamonti, A.; Rossetti, R.; Russo, G.; Russo, S.; Tonacchera, M.; Toniolo, D.; Torricelli, F.; Vegetti, W.; Villa, N.; Vineis, P.; Wasniewsk, M.; Zuffardi, O.

    2012-01-01

    Primary ovarian insufficiency (POI) is a critical fertility defect characterized by an anticipated and silent impairment of the follicular reserve, but its pathogenesis is largely unexplained. The frequent maternal inheritance of POI together with a remarkable dependence of ovarian folliculogenesis upon mitochondrial biogenesis and bioenergetics suggested the possible involvement of a generalized mitochondrial defect. Here, we verified the existence of a significant correlation between blood and ovarian mitochondrial DNA (mtDNA) content in a group of women undergoing ovarian hyperstimulation (OH), and then aimed to verify whether mtDNA content was significantly altered in the blood cells of POI women. We recruited 101 women with an impaired ovarian reserve: 59 women with premature ovarian failure (POF) and 42 poor responders (PR) to OH. A Taqman copy number assay revealed a significant mtDNA depletion (P<0.001) in both POF and PR women in comparison with 43 women of similar age and intact ovarian reserve, or 53 very old women with a previous physiological menopause. No pathogenic variations in the mitochondrial DNA polymerase γ (POLG) gene were detected in 57 POF or PR women with low blood mtDNA content. In conclusion, blood cell mtDNA depletion is a frequent finding among women with premature ovarian aging, suggesting that a still undetermined but generalized mitochondrial defect may frequently predispose to POI which could then be considered a form of anticipated aging in which the ovarian defect may represent the first manifestation. The determination of mtDNA content in blood may become an useful tool for the POI risk prediction. PMID:22879975

  3. Progeria syndromes and ageing: what is the connection?

    Science.gov (United States)

    Burtner, Christopher R; Kennedy, Brian K

    2010-08-01

    One of the many debated topics in ageing research is whether progeroid syndromes are really accelerated forms of human ageing. The answer requires a better understanding of the normal ageing process and the molecular pathology underlying these rare diseases. Exciting recent findings regarding a severe human progeria, Hutchinson-Gilford progeria syndrome, have implicated molecular changes that are also linked to normal ageing, such as genome instability, telomere attrition, premature senescence and defective stem cell homeostasis in disease development. These observations, coupled with genetic studies of longevity, lead to a hypothesis whereby progeria syndromes accelerate a subset of the pathological changes that together drive the normal ageing process.

  4. [Gait characteristics of women with fibromyalgia: a premature aging pattern].

    Science.gov (United States)

    Góes, Suelen M; Leite, Neiva; de Souza, Ricardo M; Homann, Diogo; Osiecki, Ana C V; Stefanello, Joice M F; Rodacki, André L F

    2014-01-01

    Fibromyalgia is a condition which involves chronic pain. Middle-aged individuals with fibromyalgia seem to exhibit changes in gait pattern, which may prematurely expose them to a gait pattern which resembles that found in the elderly population. To determine the 3D spatial (linear and angular) gait parameters of middle-aged women with fibromyalgia and compare to elderly women without this condition. 25 women (10 in the fibromyalgia group and 15 in the elderly group) volunteered to participate in the study. Kinematics was performed using an optoelectronic system, and linear and angular kinematic variables were determined. There was no difference in walking speed, stride length, cadence, hip, knee and ankle joints range of motion between groups, except the pelvic rotation, in which the fibromyalgia group showed greater rotation (P<0.05) compared to the elderly group. Also, there was a negative correlation with pelvic rotation and gluteus pain (r = -0.69; P<0.05), and between pelvic obliquity and greater trochanter pain (r = -0.69; P<0.05) in the fibromyalgia group. Middle-aged women with fibromyalgia showed gait pattern resemblances to elderly, women, which is characterized by reduced lower limb ROM, stride length and walking speed. Copyright © 2014 Elsevier Editora Ltda. All rights reserved.

  5. Left thoracic sympathectomy in a premature infant with long QT syndrome and heart failure.

    Science.gov (United States)

    Surendran, Sushitha; Kumar, Thittamaranahalli K S; Knott-Craig, Christopher J

    2017-01-01

    Left thoracic sympathectomy has been shown to be an effective treatment for adults with long QT syndrome who are refractory to medical therapy. We report the successful use of left thoracic sympathectomy for the management of a 10-week-old premature baby with long QT syndrome and heart failure from a large ventricular septal defect and patent ductus arteriosus.

  6. Sonography-guided gastrografin enema for meconium plug syndrome in premature newborns: preliminary results

    Energy Technology Data Exchange (ETDEWEB)

    Goo, Hyun Woo; Kim, Ki Soo; Kim, Rhan Ellen Ai; Pi, Soo Young; Yoon, Chong Hyun [Asan Medical Center, Seoul (Korea, Republic of)

    2004-04-01

    To evaluate the usefulness of sonography-guided Gastrografin enema for the diagnosis and treatment of meconium plug syndrome in premature newborns in a neonatal intensive care unit (NICU). Fifteen premature newborns underwent 23 sonography-guided Gastrografin enemas on the 8th day of life on average (range: 3 days-21 days). The gestational age and birth weight (mean{+-}standard deviation) of the patients were 29{+-}2 weeks and 999{+-}148 g, respectively. The diagnosis of meconium plug syndrome was based on relevant clinical and radiological findings. Diluted Gastrografin (1:3, 17-45 ml) was administered through a rectal tube under the guidance of sonography until it reached to the cecum. Thereafter, immediate post-procedure and delayed portable abdominal radiographs were taken. All the procedures were done within the NICU. We reviewed the dates of meconium evacuation and the first feeding after the last enema from the clinical data. Radiologically, the timing of the radiographic improvement after the last enema was checked. In cases of distended distal ileum with meconium on preenema sonography, follow-up sonography was performed to determine the interval change after gastrografin enema. None of the sonography-guided Gastrografin enemas performed within the NICU caused procedure-related complications. Meconium was evacuated within one day in all patients. In 14 patients, on average, feeding was started on the 7th day and radiographic improvement was observed on the 3rd day. Four of the five patients showing a distended distal ileum with meconium revealed a decrease in ileal distension on follow-up sonography. On the other hand, the other patient, who did not show such a decrease on follow-up sonography, was found to have ileal stenosis during subsequent surgery. Sonography-guided Gastrografin enema is a safe and effective bedside procedure, when performed in the NICU for the diagnosis and treatment of meconium plug syndrome.

  7. Early-onset Evans syndrome, immunodeficiency, and premature immunosenescence associated with tripeptidyl-peptidase II deficiency.

    Science.gov (United States)

    Stepensky, Polina; Rensing-Ehl, Anne; Gather, Ruth; Revel-Vilk, Shoshana; Fischer, Ute; Nabhani, Schafiq; Beier, Fabian; Brümmendorf, Tim H; Fuchs, Sebastian; Zenke, Simon; Firat, Elke; Pessach, Vered Molho; Borkhardt, Arndt; Rakhmanov, Mirzokhid; Keller, Bärbel; Warnatz, Klaus; Eibel, Hermann; Niedermann, Gabriele; Elpeleg, Orly; Ehl, Stephan

    2015-01-29

    Autoimmune cytopenia is a frequent manifestation of primary immunodeficiencies. Two siblings presented with Evans syndrome, viral infections, and progressive leukopenia. DNA available from one patient showed a homozygous frameshift mutation in tripeptidyl peptidase II (TPP2) abolishing protein expression. TPP2 is a serine exopeptidase involved in extralysosomal peptide degradation. Its deficiency in mice activates cell death programs and premature senescence. Similar to cells from naïve, uninfected TPP2-deficient mice, patient cells showed increased major histocompatibility complex I expression and most CD8(+) T-cells had a senescent CCR7-CD127(-)CD28(-)CD57(+) phenotype with poor proliferative responses and enhanced staurosporine-induced apoptosis. T-cells showed increased expression of the effector molecules perforin and interferon-γ with high expression of the transcription factor T-bet. Age-associated B-cells with a CD21(-) CD11c(+) phenotype expressing T-bet were increased in humans and mice, combined with antinuclear antibodies. Moreover, markers of senescence were also present in human and murine TPP2-deficient fibroblasts. Telomere lengths were normal in patient fibroblasts and granulocytes, and low normal in lymphocytes, which were compatible with activation of stress-induced rather than replicative senescence programs. TPP2 deficiency is the first primary immunodeficiency linking premature immunosenescence to severe autoimmunity. Determination of senescent lymphocytes should be part of the diagnostic evaluation of children with refractory multilineage cytopenias.

  8. Premature ovarian failure/dysfunction following surgical treatment of polycystic ovarian syndrome: A case series

    Directory of Open Access Journals (Sweden)

    T.K. Al-Hussaini

    2017-09-01

    Full Text Available Polycystic ovarian syndrome (PCOS is one of the most common causes of infertility in women. Surgical treatment of PCOS, either by the antiquated wedge resection or ovarian drilling, is one of the commonly used lines in developing countries due to its low-cost. Premature ovarian failure and diminished ovarian reserve are serious complications of the surgical treatment but no published reports sufficiently highlighted these hazards. In this case series, we report on twenty one women aged between 19–39 years, presented to Infertility Clinic, Assiut Women Health Hospital with ovarian dysfunction, diagnosed within 6–36 months after surgical management of PCOS. Nineteen of them had laparoscopic bilateral ovarian drilling using electrocauterization, and the last two had bilateral wedge resection of the ovaries through minilaparotomy. Accurate and documented diagnosis of PCOS, appropriate surgical training, adjusted thermal injury and adjusted number of punctures are essential for the avoidance of excessive damage to the ovaries. Under treatment (failure of drilling is much better than premature ovarian failure or diminishing ovarian reserve.

  9. Ataxia-telangiectasia (A-T): An emerging dimension of premature ageing.

    Science.gov (United States)

    Shiloh, Yosef; Lederman, Howard M

    2017-01-01

    A-T is a prototype genome instability syndrome and a multifaceted disease. A-T leads to neurodegeneration - primarily cerebellar atrophy, immunodeficiency, oculocutaneous telangiectasia (dilated blood vessels), vestigial thymus and gonads, endocrine abnormalities, cancer predisposition and varying sensitivity to DNA damaging agents, particularly those that induce DNA double-strand breaks. With the recent increase in life expectancy of A-T patients, the premature ageing component of this disease is gaining greater awareness. The complex A-T phenotype reflects the ever growing number of functions assigned to the protein encoded by the responsible gene - the homeostatic protein kinase, ATM. The quest to thoroughly understand the complex A-T phenotype may reveal yet elusive ATM functions. Copyright © 2016 Elsevier B.V. All rights reserved.

  10. Premature atherosclerosis in patients with acquired immunodeficiency syndrome

    Institute of Scientific and Technical Information of China (English)

    ZENG Yong; YE Yi-cong; LUO Ling; QIU Zhi-feng; HAN Yang; LI Xiao-meng; FANG Quan; ZHANG Shu-yang; LI Tai-sheng

    2010-01-01

    Background Increased risk of atherosclerosis has been reported in patients with human immunodeficiency virus (HIV)infection since highly active antiretroviral therapy (HAART) has come into use. However, there is no clear evidence of premature atherosclerosis in Chinese HIV-infected patients. Our study was designed to determine the relationship between HIV infection and atherosclerosis in Chinese HIV-infected patients.Methods One hundred and forty-five patients were enrolled in this study. These included 82 HIV-infected patients (41HAART-treated and 41 antiretroviral therapy (ART) naive patients) and 43 HIV-negative control subjects. Data on traditional cardiovascular risk factors, HIV infection parameters, and treatment regimens were collected. Pulse wave velocity (PWV) was determined using a pulse pressure analyzer to evaluate the function of the arterial wall as an indicator of atherosclerotic vascular damage.Results A higher PWV ((1358.3±117.8) cm/s vs. (1270.2±189.2) cm/s, P=0.010) was found in ART na(i)ve HIV-infected patients compared with control subjects. However, HAART treated patients had lower PWV compared to ART na(i)ve patients ((1283.8±181.4) cm/s vs. (1358.0±117.8) cm/s, P=0.033). Multiple regression analysis revealed that age (B=5.218, 95% confidence interval (CI) 1.420-9.016, P=0.008), current smoking (B=-74.671, 95% CI -147.003 to -2.339, P=0.043) and HAART (92.7% patients on a protease inhibitor-free regimen) (B=-169.169, 95% CI-272.508 to -65.831, P=0.010) were associated with reduced PWV in HIV-infected patients.Conclusions Reduced PWV in HIV-infected Chinese patients indicates that they are more likely to develop arterial wall stiffness, possibly by atherosclerosis. A protease inhibitor-free regime may be protective for arterial wall of HIV infected patients.

  11. Prelamin A accumulation and stress conditions induce impaired Oct-1 activity and autophagy in prematurely aged human mesenchymal stem cell.

    Science.gov (United States)

    Infante, Arantza; Gago, Andrea; de Eguino, Garbiñe Ruiz; Calvo-Fernández, Teresa; Gómez-Vallejo, Vanessa; Llop, Jordi; Schlangen, Karin; Fullaondo, Ane; Aransay, Ana M; Martín, Abraham; Rodríguez, Clara I

    2014-04-01

    Aging, a time-dependent functional decline of biological processes, is the primary risk factor in developing diseases such as cancer, cardiovascular or degenerative diseases. There is a real need to understand the human aging process in order to increase the length of disease-free life, also known as "health span". Accumulation of progerin and prelamin A are the hallmark of a group of premature aging diseases but have also been found during normal cellular aging strongly suggesting similar mechanisms between healthy aging and LMNA-linked progeroid syndromes. How this toxic accumulation contributes to aging (physiological or pathological) remains unclear. Since affected tissues in age-associated disorders and in pathological aging are mainly of mesenchymal origin we propose a model of human aging based on mesenchymal stem cells (hMSCs) which accumulate prelamin A. We demonstrate that prelamin A-accumulating hMSCs have a premature aging phenotype which affects their functional competence in vivo. The combination of prelamin A accumulation and stress conditions enhance the aging phenotype by dysregulating the activity of the octamer binding protein Oct-1This experimental model has been fundamental to identify a new role for Oct-1 in hMSCs aging.

  12. Muscle wasting in myotonic dystrophies: a model of premature aging.

    Science.gov (United States)

    Mateos-Aierdi, Alba Judith; Goicoechea, Maria; Aiastui, Ana; Fernández-Torrón, Roberto; Garcia-Puga, Mikel; Matheu, Ander; López de Munain, Adolfo

    2015-01-01

    Myotonic dystrophy type 1 (DM1 or Steinert's disease) and type 2 (DM2) are multisystem disorders of genetic origin. Progressive muscular weakness, atrophy and myotonia are the most prominent neuromuscular features of these diseases, while other clinical manifestations such as cardiomyopathy, insulin resistance and cataracts are also common. From a clinical perspective, most DM symptoms are interpreted as a result of an accelerated aging (cataracts, muscular weakness and atrophy, cognitive decline, metabolic dysfunction, etc.), including an increased risk of developing tumors. From this point of view, DM1 could be described as a progeroid syndrome since a notable age-dependent dysfunction of all systems occurs. The underlying molecular disorder in DM1 consists of the existence of a pathological (CTG) triplet expansion in the 3' untranslated region (UTR) of the Dystrophia Myotonica Protein Kinase (DMPK) gene, whereas (CCTG)n repeats in the first intron of the Cellular Nucleic acid Binding Protein/Zinc Finger Protein 9 (CNBP/ZNF9) gene cause DM2. The expansions are transcribed into (CUG)n and (CCUG)n-containing RNA, respectively, which form secondary structures and sequester RNA-binding proteins, such as the splicing factor muscleblind-like protein (MBNL), forming nuclear aggregates known as foci. Other splicing factors, such as CUGBP, are also disrupted, leading to a spliceopathy of a large number of downstream genes linked to the clinical features of these diseases. Skeletal muscle regeneration relies on muscle progenitor cells, known as satellite cells, which are activated after muscle damage, and which proliferate and differentiate to muscle cells, thus regenerating the damaged tissue. Satellite cell dysfunction seems to be a common feature of both age-dependent muscle degeneration (sarcopenia) and muscle wasting in DM and other muscle degenerative diseases. This review aims to describe the cellular, molecular and macrostructural processes involved in the muscular

  13. Muscle wasting in myotonic dystrophies: a model of premature aging.

    Directory of Open Access Journals (Sweden)

    Alba Judith eMateos-Aierdi

    2015-07-01

    Full Text Available Myotonic dystrophy type I (DM1 or Steinert’s disease and type II (DM2 are multisystem disorders of genetic origin. Progressive muscular weakness, atrophy and myotonia are the most prominent neuromuscular features of these diseases, and other clinical manifestations such as cardiomyopathy, insulin-resistance and cataracts are also common. From a clinical perspective, most DM symptoms are interpreted as a result of an accelerated aging (cataracts, muscular weakness and atrophy, cognitive decline, metabolic dysfunction, etc., including an increased risk of developing tumors. From this point of view, DM1 could be described as a progeroid syndrome since a notable age-dependent dysfunction of all systems occurs. The underlying molecular disorder in DM1 consists of the existence of a pathological (CTGn triplet expansion in the 3’ untranslated region of the DMPK gene, whereas (CCTGn repeats in the first intron of the CNBP/ZNF9 gene cause DM2. The expansions are transcribed into (CUGn and (CCUGn-containing RNA, respectively, which form secondary structures and sequester RNA-binding proteins, such as the splicing factor muscleblind-like protein (MBNL, forming nuclear aggregates known as foci. Other splicing factors, such as CUGBP, are also disrupted, leading to a spliceopathy of a large number of downstream genes linked to the clinical features of these diseases. Skeletal muscle regeneration relies on muscle progenitor cells, known as satellite cells, which are activated after muscle damage, and which proliferate and differentiate to muscle cells, thus regenerating the damaged tissue. Satellite cell dysfunction seems to be a common feature of both age-dependent muscle degeneration (sarcopenia and muscle wasting in DM and other muscle degenerative diseases. This review aims to describe the cellular, molecular and macrostructural processes involved in the muscular degeneration seen in DM patients, highlighting the similarities found with muscle aging.

  14. Congenital Heart Disease in Premature Infants 25-32 Weeks' Gestational Age.

    Science.gov (United States)

    Chu, Patricia Y; Li, Jennifer S; Kosinski, Andrzej S; Hornik, Christoph P; Hill, Kevin D

    2017-02-01

    To determine the birth prevalence of congenital heart defects (CHDs) across the spectrum of common defects in very/extremely premature infants and to compare mortality rates between premature infants with and without CHDs. The Kids' Inpatient Databases (2003-2012) were used to estimate the birth prevalence of CHDs (excluding patent ductus arteriosus) in very/extremely premature infants born between 25 and 32 weeks' gestational age. Birth prevalence was compared with term infants for a subset of "severe" defects expected to be near universally diagnosed in the neonatal period. Weighted multivariable logistic regression was used to calculate aORs of mortality comparing very and extremely premature infants with vs without CHDs. We identified 249 011 very/extremely premature infants, including 28 806 with CHDs. The overall birth prevalence of CHDs was 116 per 1000 very/extremely premature births. Severe CHDs had significantly higher birth prevalence in very/extremely premature infants when compared with term infants (7.4 per 1000 very/premature births vs 1.5 per 1000 term births; P premature infants with severe CHDs had an overall 26.3% in-hospital mortality and a 7.5-fold increased adjusted odds of death compared with those without CHDs. Mortality varied widely by defect in very/extremely premature infants, ranging from 12% for interrupted aortic arch to 67% for truncus arteriosus. Given the increased birth prevalence of severe CHDs in very/extremely premature infants, and significantly higher mortality, there is justification for intensive interventions aimed at decreasing the likelihood of premature delivery for patients where CHD is diagnosed in utero. Copyright © 2016 Elsevier Inc. All rights reserved.

  15. Anti-Müllerian hormone: plasma levels in women with polycystic ovary syndrome and with premature ovarian failure

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    Piotr Skałba

    2011-06-01

    Full Text Available Background: Anti-Müllerian hormone (AMH is a member of the transforming growth factor β (TGF-β family of growth and differentiation factors. AMH is produced by granulosa cells of preantral and small antral follicles.Aim of the study: The aim of the study was to assess the AMH plasma levels of healthy women in reproductive age and in women with polycystic ovary syndrome (PCOS and premature ovarian failure (POF.Material and methods: The study included 187 women.Results: AMH concentration in serum of patients with PCOS (73.68 ±25.58 pmol/l was significantly higher than in healthy women (16.97 ±5.80 pmol/l (p < 0.05. In patients with POF AMH concentrations in blood serum were very low or undetectable, and averaged 0.65 ±1.81 pmol/l. Average concentrations of AMH in the blood serum of the healthy group of patients differed significantly (p < 0.001 between the age-dependent subgroups. AMH concentration in serum of healthy women decreased with age. The average concentration of AMH in the blood serum in PCOS decreased after 30 years of age. There were no statistically significant differences between age subgroups.In the premature ovarian failure patients with secondary amenorrhea persisting for at least three years AMH plasma levels were extremely low (0.16 ±0.10 pmol/l and showed a significant difference compared to patients whose menses returned.Conclusions:1. In PCOS women the determination of AMH plasma levels can be used to assess severity of the syndrome.2. The determination of AMH in blood serum can be used as a marker of diminished ovarian reserve in premature ovarian failure women.

  16. Transformation Resistance in a Premature Aging Disorder Identifies a Tumor-Protective Function of BRD4

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    Patricia Fernandez

    2014-10-01

    Full Text Available Advanced age and DNA damage accumulation are prominent risk factors for cancer. The premature aging disorder Hutchinson-Gilford progeria syndrome (HGPS provides a unique opportunity for studying the interplay between DNA damage and aging-associated tumor mechanisms, given that HGPS patients do not develop tumors despite elevated levels of DNA damage. Here, we have used HGPS patient cells to identify a protective mechanism to oncogenesis. We find that HGPS cells are resistant to neoplastic transformation. Resistance is mediated by the bromodomain protein BRD4, which exhibits altered genome-wide binding patterns in transformation-resistant cells, leading to inhibition of oncogenic dedifferentiation. BRD4 also inhibits, albeit to a lower extent, the tumorigenic potential of transformed cells from healthy individuals. BRD4-mediated tumor protection is clinically relevant given that a BRD4 gene signature predicts positive clinical outcome in breast and lung cancer. Our results demonstrate a protective function for BRD4 and suggest tissue-specific roles for BRD4 in tumorigenesis.

  17. The relationship between acquired premature ejaculation and metabolic syndrome: a prospective, comparative study.

    Science.gov (United States)

    Bolat, D; Kocabas, G U; Gunlusoy, B; Aydogdu, O; Aydin, M E

    2017-02-09

    The aim of this study was to investigate the relationship between metabolic syndrome (MetS) and acquired premature ejaculation (PE). A total of 100 patients with acquired PE and 100 control cases were enrolled in the study. After obtaining a detailed medical history, anthropometric (weight, height and waist circumference) and blood pressure measurements were performed. Ejaculation and erection functions were evaluated by Premature Ejaculation Diagnostic Tool (PEDT) and International Index of Erectile Function-5 (IIEF-5), respectively. Self-estimated intravaginal ejaculatory latency time (IELT) of the participants was recorded. Fasting blood samples were taken for biochemical and hormonal work-up. The median PEDT scores were 16 (9-22) and 4.5 (2-8) in acquired PE and control groups, respectively (P<0.001). The mean estimated IELT values in PE patients and controls were 36.1±46.5  versus 488.2±313.8 s (P<0.001). MetS was diagnosed in 51 patients (51%) in the PE group and 24 (24%) participants in the control group (P<0.001). A significant negative correlation was observed between the components of MetS and estimated IELT, except for diastolic blood pressure. Moreover, there was a significant positive correlation between the all components of MetS and total PEDT score, except for fasting blood glucose and high-density lipoprotein cholesterol (HDL) levels. Logistic regression analysis revealed that, except blood pressure and HDL levels, MetS components were significant risk factors for PE after adjusting for age and total testosterone. In conclusion, MetS is associated with acquired PE.International Journal of Impotence Research advance online publication, 9 February 2017; doi:10.1038/ijir.2017.3.

  18. Pleiotropy in Coffin-Lowry syndrome: sensorineural hearing deficit and premature tooth loss as early manifestations.

    Science.gov (United States)

    Hartsfield, J K; Hall, B D; Grix, A W; Kousseff, B G; Salazar, J F; Haufe, S M

    1993-03-01

    We report on 7 patients (6 M, 1 F) with Coffin-Lowry syndrome who have a sensorineural hearing deficit in addition to developmental delay and characteristic facial changes. One of the patients also had a history of premature exfoliation of primary teeth. These are previously unappreciated clinical signs that may aid in the early diagnosis of Coffin-Lowry syndrome. Early diagnosis and recognition of a hearing deficit in the patient can lead to the use of hearing aids to help the patient achieve his or her full potential. These "new" clinical manifestations expand the phenotype of Coffin-Lowry syndrome and constitute an additional indication of pleiotropy.

  19. Prematurity, smallness-for-gestational age and later hospital admissions

    DEFF Research Database (Denmark)

    Á Rogvi, Rasmus; Forman, Julie Lyng; Greisen, Gorm

    2015-01-01

    hospital admissions later in life. METHODS: Using Danish nation-wide registries we created a cohort of 1,348,106 persons born 1974-1996 and assessed all unique diagnoses registered in the Danish Patient Registry (DPR) for hospital admissions in the period 1994-2007 (n=27,910,558). We determined the odds...... in life. CONCLUSION: Being born premature or SGA was associated with significantly altered risks of being admitted to a hospital with a wide range of diseases later in life, affecting almost all organ systems throughout childhood and early adulthood. Our findings may motivate testing in other cohorts...

  20. Accelerated aging syndromes, are they relevant to normal human aging?

    Science.gov (United States)

    Dreesen, Oliver; Stewart, Colin L

    2011-09-01

    Hutchinson-Gilford Progeria (HGPS) and Werner syndromes are diseases that clinically resemble some aspects of accelerated aging. HGPS is caused by mutations in theLMNA gene resulting in post-translational processing defects that trigger Progeria in children. Werner syndrome, arising from mutations in the WRN helicase gene, causes premature aging in young adults. What are the molecular mechanism(s) underlying these disorders and what aspects of the diseases resemble physiological human aging? Much of what we know stems from the study of patient derived fibroblasts with both mutations resulting in increased DNA damage, primarily at telomeres. However, in vivo patients with Werner's develop arteriosclerosis, among other pathologies. In HGPS patients, including iPS derived cells from HGPS patients, as well as some mouse models for Progeria, vascular smooth muscle (VSM) appears to be among the most severely affected tissues. Defective Lamin processing, associated with DNA damage, is present in VSM from old individuals, indicating processing defects may be a factor in normal aging. Whether persistent DNA damage, particularly at telomeres, is the root cause for these pathologies remains to be established, since not all progeroid Lmna mutations result in DNA damage and genome instability.

  1. Reprogramming suppresses premature senescence phenotypes of Werner syndrome cells and maintains chromosomal stability over long-term culture.

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    Akira Shimamoto

    Full Text Available Werner syndrome (WS is a premature aging disorder characterized by chromosomal instability and cancer predisposition. Mutations in WRN are responsible for the disease and cause telomere dysfunction, resulting in accelerated aging. Recent studies have revealed that cells from WS patients can be successfully reprogrammed into induced pluripotent stem cells (iPSCs. In the present study, we describe the effects of long-term culture on WS iPSCs, which acquired and maintained infinite proliferative potential for self-renewal over 2 years. After long-term cultures, WS iPSCs exhibited stable undifferentiated states and differentiation capacity, and premature upregulation of senescence-associated genes in WS cells was completely suppressed in WS iPSCs despite WRN deficiency. WS iPSCs also showed recapitulation of the phenotypes during differentiation. Furthermore, karyotype analysis indicated that WS iPSCs were stable, and half of the descendant clones had chromosomal profiles that were similar to those of parental cells. These unexpected properties might be achieved by induced expression of endogenous telomerase gene during reprogramming, which trigger telomerase reactivation leading to suppression of both replicative senescence and telomere dysfunction in WS cells. These findings demonstrated that reprogramming suppressed premature senescence phenotypes in WS cells and WS iPSCs could lead to chromosomal stability over the long term. WS iPSCs will provide opportunities to identify affected lineages in WS and to develop a new strategy for the treatment of WS.

  2. Maternal age as risk factor of prematurity in Spain: Mediterranean area

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    E. Cortés Castell

    2013-10-01

    Full Text Available Background: Maternal age is a preponderant variable in the epidemiological analysis of the premature birth. Studies show that in the extreme ages of the maternal life there is a risk of premature birth that generates a high rate of neonatal morbidity. Objetives: Determine the effect on the extreme ages of women residents in the province of Alicante on the total of the premature births. Method: An explanatory, retrospective case-control study was conducted during the period from January 1st, 2008 to December 31st, 2011. The study was based on the revision of the newborn registers from the Neonatal Screening Center of the province of Alicante. All the preterm were included, this means between 22 & 36 complete weeks of pregnancy (5,295 out of 78,391 newborn which represents 6.75% of prematurity, and a random sample of the deliveries with 37 weeks or more of pregnancy (control group. The age of the mother was studied as independent variable and the prematurity as dependent variable. Results: Clearly shows an increased risk of prematurity among teenage mothers compared to the age group nearest to them, which is confirmed by a squared Chi test which gives a significantly different distribution (p < 0,0001 and an OD for very preterm of 2,41 (1,51-3,24 and of preterm of 1,71 (1,32-2,19. This probability is also higher among mothers over 40 years old with an OD of 1,86 (1,39-2,48 and 1,66 (1,44-1,91 for very preterm newborns and preterm newborns respectively. Discussion: The results clearly manifest that teenagers and older pregnant mothers are at higher prematurity and low birth weight risk, therefore imposes the need to trace educational interventions to minimize this problem from the results in this research.

  3. Cardiovascular Risk in Women With Premature Ovarian Insufficiency Compared to Premenopausal Women at Middle Age

    NARCIS (Netherlands)

    Daan, Nadine M P; Muka, Taulant; Koster, Maria P H; Roeters van Lennep, Jaenine E; Lambalk, Cornelis B; Laven, Joop S E; Fauser, Clemens G K M; Meun, Cindy; de Rijke, Yolanda B; Boersma, Eric; Franco, Oscar H; Kavousi, Maryam; Fauser, Bart C J M

    2016-01-01

    CONTEXT: A young age at menopause has been associated with increased cardiovascular disease (CVD) risk. OBJECTIVE: To compare the cardiovascular risk profile between women with premature ovarian insufficiency (POI) and premenopausal controls of comparable age. DESIGN: Cross-sectional case control st

  4. Correlação entre a idade materna, paridade, gemelaridade, síndrome hipertensiva e ruptura prematura de membranas e a indicação de parto cesáreo The influence of maternal age, parity, twin pregnancy, hypertensive syndrome and premature rupture of membranes on the indication for cesarean section

    Directory of Open Access Journals (Sweden)

    Simone Angélica Leite de Carvalho Silva Cabral

    2003-12-01

    Full Text Available OBJETIVO: verificar a contribuição da idade materna, paridade, gemelaridade, síndrome hipertensiva, ruptura prematura das membranas como fator de risco para cesárea. MÉTODOS: após aprovação do Comitê de Ética em Pesquisa da Maternidade Professor Monteiro de Morais, situada em Recife-PE, realizou-se estudo de caso-controle com 3919 gestantes, sem antecedente de duas ou mais cesáreas, que deram à luz concepto vivo, com idade gestacional igual ou superior a 28 semanas, peso mínimo de 1.000 g, em apresentação cefálica, no período de 1 de setembro de 1999 a 31 de agosto de 2000. No grupo caso foram incluídas mulheres submetidas a operação cesariana e no grupo controle, a parto vaginal. Com os dados constantes dos prontuários neonatais e obstétricos, realizou-se análise multivariada por regressão logística, buscando a equação matemática que relacione a probabilidade de ocorrência de cesárea decorrente de mais de uma variável independente atuando como fator de risco, utilizando odds ratio e intervalo de confiança de 95% (IC 95%, consideradas as variáveis: idade materna, paridade, gemelaridade, síndrome hipertensiva e ruptura prematura das membranas. RESULTADOS: as chances de cesárea foram aumentadas em 8,3 vezes (OR = 8,3; IC 95%: 3,7-19,1 na gemelaridade, 3,4 na síndrome hipertensiva (OR = 3,4; IC 95%: 2,9-4,0, 1,9 na primiparidade (OR = 1,9; IC 95% : 1,8-2,0, 1,5 na idade superior a 34 anos (OR = 1,5; IC 95%: 1,2-1,8 e 1,2 na presença de ruptura prematura das membranas (OR = 1,2; IC 95%: 1,0-1,4. CONCLUSÕES: ruptura prematura das membranas, idade superior a 34 anos, primiparidade, síndrome hipertensiva e gemelaridade constituíram fatores de risco para cesárea.PURPOSE: to verify the contribution of maternal age, parity, twin pregnancy, hypertensive syndrome, and premature rupture of membranes as risk factors for cesarean section. METHODS: after approval by the Ethics in Research Committee of the "Maternidade

  5. The Premature Aging Hypothesis: Old Before Its Time?

    Science.gov (United States)

    Kramer, Joel H.; And Others

    1989-01-01

    Administered California Verbal Learning Test to young and old alcoholics and controls. Alcoholism and aging produced similar levels of immediate and delayed free recall. However, poor recognition memory and more frequent intrusion and false positive errors were associated with alcoholism but not with aging. Results suggest that alcoholism and…

  6. Gene expression and DNA repair in progeroid syndromes and human aging.

    Science.gov (United States)

    Kyng, Kasper J; Bohr, Vilhelm A

    2005-11-01

    Human progeroid syndromes are caused by mutations in single genes accelerating some but not all features of normal aging. Most progeroid disorders are linked to defects in genome maintenance, and while it remains unknown if similar processes underlie normal and premature aging, they provide useful models for the study of aging. Altered transcription is speculated to play a causative role in aging, and is involved in the pathology of most if not all progeroid syndromes. Previous studies demonstrate that there is a similar pattern of gene expression changes in primary cells from old and Werner syndrome compared to young suggesting a presence of common cellular aging mechanisms in old and progeria. Here we review the role of transcription in progeroid syndromes and discuss the implications of similar transcription aberrations in normal and premature aging.

  7. Premature aging in skeletal muscle lacking serum response factor.

    Directory of Open Access Journals (Sweden)

    Charlotte Lahoute

    Full Text Available Aging is associated with a progressive loss of muscle mass, increased adiposity and fibrosis that leads to sarcopenia. At the molecular level, muscle aging is known to alter the expression of a variety of genes but very little is known about the molecular effectors involved. SRF (Serum Response Factor is a crucial transcription factor for muscle-specific gene expression and for post-natal skeletal muscle growth. To assess its role in adult skeletal muscle physiology, we developed a post-mitotic myofiber-specific and tamoxifen-inducible SRF knockout model. Five months after SRF loss, no obvious muscle phenotype was observed suggesting that SRF is not crucial for myofiber maintenance. However, mutant mice progressively developed IIB myofiber-specific atrophy accompanied by a metabolic switch towards a more oxidative phenotype, muscular lipid accumulation, sarcomere disorganization and fibrosis. After injury, mutant muscles exhibited an altered regeneration process, showing smaller regenerated fibers and persistent fibrosis. All of these features are strongly reminiscent of abnormalities encountered in aging skeletal muscle. Interestingly, we also observed an important age associated decrease in SRF expression in mice and human muscles. Altogether, these results suggest that a naturally occurring SRF down-regulation precedes and contributes to the muscle aging process. Indeed, triggering SRF loss in the muscles of mutant mice results in an accelerated aging process.

  8. Uremia causes premature ageing of the T cell compartment in end-stage renal disease patients

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    Meijers Ruud WJ

    2012-09-01

    Full Text Available Abstract Background End-stage renal disease (ESRD patients treated with renal replacement therapy (RRT have premature immunologically aged T cells which may underlie uremia-associated immune dysfunction. The aim of this study was to investigate whether uremia was able to induce premature ageing of the T cell compartment. For this purpose, we examined the degree of premature immunological T cell ageing by examining the T cell differentiation status, thymic output via T cell receptor excision circle (TREC content and proliferative history via relative telomere length in ESRD patients not on RRT. Results Compared to healthy controls, these patients already had a lower TREC content and an increased T cell differentiation accompanied by shorter telomeres. RRT was able to enhance CD8+ T cell differentiation and to reduce CD8+ T cell telomere length in young dialysis patients. An increased differentiation status of memory CD4+ T cells was also noted in young dialysis patients. Conclusion Based on these results we can conclude that uremia already causes premature immunological ageing of the T cell system and RRT further increases immunological ageing of the CD8+ T cell compartment in particular in young ESRD patients.

  9. Leaving College Prematurely: The Experiences of Nontraditional-Age College Students With Depression

    Science.gov (United States)

    Thompson-Ebanks, Valerie

    2017-01-01

    This qualitative study examines the experiences of former nontraditional-age students with depression and reasons that led them to leave college prematurely. Constant comparative methods were used to illuminate themes within and across participants' stories. The findings showcase eight complex interlocking factors that these former students…

  10. Leaving College Prematurely: The Experiences of Nontraditional-Age College Students With Depression

    Science.gov (United States)

    Thompson-Ebanks, Valerie

    2017-01-01

    This qualitative study examines the experiences of former nontraditional-age students with depression and reasons that led them to leave college prematurely. Constant comparative methods were used to illuminate themes within and across participants' stories. The findings showcase eight complex interlocking factors that these former students…

  11. Staphylococcal scalded skin syndrome in a premature newborn caused by methicillin-resistant Staphylococcus aureus: case report

    Directory of Open Access Journals (Sweden)

    Andreas Hörner

    Full Text Available CONTEXT: Staphylococcal scalded skin syndrome is an exfoliative skin disease. Reports of this syndrome in newborns caused by methicillin-resistant Staphylococcus aureus are rare but, when present, rapid diagnosis and treatment is required in order to decrease morbidity and mortality. CASE REPORT: A premature newly born girl weighing 1,520 g, born with a gestational age of 29 weeks and 4 days, developed staphylococcal scalded skin syndrome on the fifth day of life. Cultures on blood samples collected on the first and fourth days were negative, but Pseudomonas aeruginosa and Enterococcus sp. (vancomycin-sensitive developed in blood cultures performed on the day of death (seventh day, and Pseudomonas aeruginosa and Serratia marcescens were identified in cultures on nasopharyngeal, buttock and abdominal secretions. In addition to these two Gram-negative bacilli, methicillin-resistant Staphylococcus aureus was isolated in a culture on the umbilical stump (seventh day. The diagnosis of staphylococcal scalded skin syndrome was based on clinical criteria.

  12. Neonatology oxidative status in preterm infants with premature preterm rupture of membranes and fetal inflammatuar response syndrome.

    Science.gov (United States)

    Özalkaya, Elif; Karatekin, Güner; Topçuoğlu, Sevilay; Karatepe, Hande Özgün; Hafızoğlu, Taner; Baran, Pervin; Ovalı, Fahri

    2017-10-01

    The aim of this study, to determine an index of oxidative stress index in preterm infants less than 34 weeks gestational age with premature preterm rupture of membrane (PPROM) and fetal inflammatory response syndrome (FIRS). This study was designed as a prospective study. Fifty-one premature infants less than 35 weeks of gestational age were included in the study. The umbilical cord blood concentrations of IL-6, TAC (total antioxidant capacity) and PON-1 (paraoxonase-1) levels and TOS (total oxidative stress) were studied. The oxidative stress index (OSI = TAC/TOS) was calculated in all of prematüre infants. PPROM was defined as rupture of membranes at least 24 hours before the onset of labor. FIRS was defined by an umbilical cord IL-6 level greater than 11 pg/mL. Premature infants included in the study were divided into 4 groups. Group 1 included preterm infants without FIRS and with PPROM (n = 16), while Group 2 included preterm infants without PPROM and with FIRS (n = 9), Group 3 consisted of premature infants with PPROM and FIRS (n = 21) and Group 4 included premature infants without PPROM or FIRS (n = 5). Umbilical cord TOS level was found to be higher in the preterm infants without FIRS and with PPROM (36.1 μmol H2O2 Equiv./L) compared to the preterm infants without PPROM or FIRS (11.9 μmol H2O2 Equiv./L) (p = 0.03). Umbilical cord PON-1 level was found to be lower in the preterms without FIRS and with PPROM (32 U/L), preterms without PPROM and with FIRS (30. 3 U/L) and the preterm infants with both PPROM and FIRS (48.6 U/L) compared to the preterm infants having no PPROM or FIRS (85.6 U/L) (p = 0.001). High pro-oxidant capacity was found in PPROM and low antioxidant capacity in PPROM and FIRS. Copyright © 2017. Published by Elsevier B.V.

  13. 晚期早产儿及足月儿与胎龄 <35周早产儿呼吸窘迫综合征临床分析%Comparison of clinical characteristics of respiratory distress syndrome between gestational age <35w premature neonates and term and late-preterm neonates

    Institute of Scientific and Technical Information of China (English)

    王美卿; 宋旸

    2015-01-01

    Objective To compare the clinical characteristics of respiratory distress syndrome ( RDS ) between gestational age <35w premature neonates and term and late-preterm neonates and the differences among them.Methods Eighty-nine cases of RDS admitted in People's Hospital of Lanxi City during the period of December 2011 to December 2013 were divided into two groups:term and late-preterm neonate group (gestational age≥35w, n=32) and gestational age<35w premature neonate group (gestational age<35w, n=57).The risk factors, onset time, treatment and complications of them were analyzed.Results Premature was the main etiology of RDS in gestational age<35w premature neonates, while cesarean section was the major high risk factor in term and late-preterm neonates (59.4%), followed by asphyxia, meconium aspiration and gestational diabetes mellitus (χ2 value was 6.52, 6.47, 9.24 and 4.15, respectively, all P<0.05).The occurrence of RDS was later (t=3.92,P<0.01) and the start time to use CPAP or ventilator was also later (t=4.20, P<0.01) in term and late-preterm neonate group than in gestational age<35w premature neonate group.But the continuous application of ventilator was longer (t=2.27,P<0.05) in term and late-preterm neonates, and they were more likely to suffer pneumothorax (χ2 =5.82,P<0.05) and persistent pulmonary hypertension (PPHN) (χ2 =9.49,P <0.01).Conclusion Cesarean section, meconium aspiration, asphyxia and gestational diabetes mellitus are the risk factors of term and late-preterm neonates with RDS.The onset time for RDS is late and mechanical ventilation is long in term and late-preterm neonates, who are likely to suffer pneumothorax and PPHN. Therefore, active preventing neonates asphyxia and meconium aspiration, and reducing cesarean section rate can significantly reduce the occurrence of RDS among term and late-preterm neonates.Meanwhile, it is important to improve clinician' s awareness on RDS to achieve early diagnosis and early treatment as well as

  14. Werner综合征小鼠模型在早衰与肿瘤研究中的应用%Utilization of Werner syndrome mouse model in studying premature aging and tumor

    Institute of Scientific and Technical Information of China (English)

    贾舒婷; 杨世华; 罗瑛

    2009-01-01

    Werner综合征(Werner syndrome,ws)是一种罕见的人类常染色体隐性遗传疾病,一直以来该病作为研究人类早老综合征的典型病例而受到关注.Werner蛋白(WRN)是Werner综合征中突变的核蛋白,最近的生化及遗传学研究证明WRN在DNA复制,DNA损伤修复以及端粒的维持方面起着重要的作用.文章综述了Wemer综合征的分子遗传学机理及端粒和WRN在Werner综合征发病中的重要作用.通过双敲除Wrn与端粒酶基因建立的小鼠模型忠实地再现了人类Werner综合征,这种Werner综合征小鼠模型因其同时具有早衰与肿瘤表型而在研究人类肿瘤及衰老的相关性中起到的独特作用.

  15. Developmental profiles from the Battelle developmental inventory: a comparison of toddlers diagnosed with Down Syndrome, global developmental delay and premature birth.

    Science.gov (United States)

    Matson, Johnny L; Hess, Julie A; Sipes, Megan; Horovitz, Max

    2010-01-01

    Developmental profiles and milestone attainment have been examined for children suffering from various developmental disabilities. However, research comparing the same across numerous developmental disabilities is scant. Therefore, the purpose of the current study was to examine the developmental profiles of toddlers (i.e. aged 17-34 months) who were premature, diagnosed with Down Syndrome, or diagnosed with Global Developmental Delay. A total of 28 toddlers met inclusion criteria for the study. Those diagnosed with Global Developmental Delay or Down Syndrome scored significantly lower on the Battelle Developmental Inventory, Second Edition (BDI-2), compared to those who were born premature. More specifically, differences emerged on the BDI-2 domains of personal-social and motor. Implications of these findings and directions for future research are discussed.

  16. Genetics Home Reference: Werner syndrome

    Science.gov (United States)

    ... for This Condition Adult premature aging syndrome Adult Progeria Werner's Syndrome Werners Syndrome WS Related Information How ... BK, Monnat RJ Jr. Werner and Hutchinson-Gilford progeria syndromes: mechanistic basis of human progeroid diseases. Nat ...

  17. Health-related quality of life in premature acute coronary syndrome: does patient sex or gender really matter?

    Science.gov (United States)

    Leung Yinko, Sylvie S L; Pelletier, Roxanne; Behlouli, Hassan; Norris, Colleen M; Humphries, Karin H; Pilote, Louise

    2014-07-28

    Limited data exist as to the relative contribution of sex and gender on health-related quality of life (HRQL) among patients with acute coronary syndrome (ACS). This study aims to evaluate the effect of sex and gender-related variables on long-term HRQL among young adults with ACS. GENESIS-PRAXY (GENdEr and Sex determInantS of cardiovascular disease: from bench to beyond-Premature Acute Coronary SYndrome) is a multicenter, prospective cohort study (January 2009 to August 2013) of adults aged 18 to 55 years, hospitalized with ACS. HRQL was measured at baseline, 1, 6, and 12 months using the Short Form-12 and Seattle Angina Questionnaire (SAQ) among 1213 patients. Median age was 49 years. Women reported worse HRQL than men over time post-ACS, both in terms of physical and mental functioning. Gender-related factors were more likely to be predictors of HRQL than sex. Femininity score, social support, and housework responsibility were the most common gender-related predictors of HRQL at 12 months. We observed an interaction between female sex and social support (β=0.44 [95% confidence interval, 0.01, 0.88]; P=0.047) for the physical limitation subscale of the SAQ. Young women with ACS report significantly poorer HRQL than young men. Gender appears to be more important than sex in predicting long-term HRQL post-ACS. Specific gender-related factors, such as social support, may be amenable to interventions and could improve the HRQL of patients with premature ACS. © 2014 The Authors. Published on behalf of the American Heart Association, Inc., by Wiley Blackwell.

  18. Comparing effects of Beractant and Poractant alfa in decreasing mortality rate due to respiratory distress syndrome in premature infants

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    Saeidi R

    2011-02-01

    Full Text Available "nBackground: Exogenous natural and synthetic surfactants is a rescue treatment for respiratory distress syndrome (RDS. The goals of the study were to compare the clinical response and side-effects of two frequently used surfactants, poractant alfa (Curosurf and beractant (Survanta, for the treatment of respiratory distress syndrome in preterm infants."n "nMethods: This clinical trial study was performed during a two-year period in the Neonatal Intensive Care Unit of Ghaem Hospital in Mashhad, Iran. Sample size calculated by a 95% confidence and power of 80, included 104 premature neonates, 74 in survanta and 30 in curosurf groups. The level of statistical significance was considered to be < 0.05."n "nResults: There were no statistically significant differences between the infants treated by survanta or cursurf groups regarding their mean gestational age (30.58 Vs. 29.00 weeks and birth weight (1388 Vs. 1330 g, (p=0.3 There were also no significant differences between the two groups regarding incidences of broncho- pulmonary dysplasia (BPD (40.5% Vs. 40%, intraventricular hemorrhage (IVH grades III/IV (13.5% Vs. 13.3%, pneumothorax (both 20%, patent ductus arteriosus (PDA (28/3% Vs. 20% or death (28% Vs. 26.6% on the 28th day postpartum."n "nConclusion: This study showed that survanta and curosurf had similar therapeutic effects in the treatment of neonatal respiratory distress syndrome.

  19. GDF11 administration does not extend lifespan in a mouse model of premature aging

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    Freitas-Rodríguez, Sandra; Rodríguez, Francisco; Folgueras, Alicia R.

    2016-01-01

    GDF11 has recently emerged as a powerful anti-aging candidate, found in young blood, capable of rejuvenating a number of aged tissues, such as heart, skeletal muscle and brain. However, recent reports have shown contradictory data questioning its capacity to reverse age-related tissue dysfunction. The availability of a mouse model of accelerated aging, which shares most of the features occurring in physiological aging, gives us an excellent opportunity to test in vivo therapies aimed at extending lifespan both in pathological and normal aging. On this basis, we wondered whether the proposed anti-aging functions of GDF11 would have an overall effect on longevity. We first confirmed the existence of a reduction in GDF11/8 levels in our mouse model of accelerated aging compared with wild-type littermates. However, we show herein that GDF11 daily administration does not extend lifespan of premature-aged mice. PMID:27507054

  20. Premature ageing of the immune system underlies immunodeficiency in ataxia telangiectasia.

    Science.gov (United States)

    Exley, Andrew Robert; Buckenham, Samantha; Hodges, Elizabeth; Hallam, Robert; Byrd, Phil; Last, James; Trinder, Claire; Harris, Susan; Screaton, Nicholas; Williams, Anthony P; Taylor, A Malcolm R; Shneerson, John M

    2011-07-01

    ATM kinase modulates pathways implicated in premature ageing and ATM genotype predicts survival, yet immunodeficiency in ataxia telangiectasia is regarded as mild and unrelated to age. We address this paradox in a molecularly characterised sequential adult cohort with classical and mild variant ataxia telangiectasia. Immunodeficiency has the characteristics of premature ageing across multiple cellular and molecular immune parameters. This immune ageing occurs without previous CMV infection. Age predicts immunodeficiency in genetically homogeneous ataxia telangiectasia, and in comparison with controls, calendar age is exceeded by immunological age defined by thymic naïve CD4+ T cell levels. Applying ataxia telangiectasia as a model of immune ageing, pneumococcal vaccine responses, characteristically deficient in physiological ageing, are predicted by thymic naïve CD4+ T cell levels. These data suggest inherited defects of DNA repair may provide valuable insight into physiological ageing. Thymic naïve CD4+ T cells may provide a biomarker for vaccine responsiveness in elderly cohorts. Copyright © 2011 Elsevier Inc. All rights reserved.

  1. Molecular ageing in progeroid syndromes: Hutchinson-Gilford progeria syndrome as a model

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    da Nóbrega Raphael

    2009-04-01

    Full Text Available Abstract Hutchinson-Gilford progeria syndrome (HGPS is a rare premature aging disorder that belongs to a group of conditions called laminopathies which affect nuclear lamins. Mutations in two genes, LMNA and ZMPSTE24, have been found in patients with HGPS. The p.G608G LMNA mutation is the most commonly reported mutation. The aim of this work was to compile a comprehensive literature review of the clinical features and genetic mutations and mechanisms of this syndrome as a contribution to health care workers. This review shows the necessity of a more detailed clinical identification of Hutchinson-Gilford progeria syndrome and the need for more studies on the pharmacologic and pharmacogenomic approach to this syndrome.

  2. Current perspectives for management of acute respiratory insufficiency in premature infants with acute respiratory syndrome.

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    Chen, Peng; Zhang, Ying; Li, Long-Yun

    2014-09-01

    Current perspectives for management of acute respiratory insufficiency in premature infants with acute respiratory syndrome and the pathology of acute respiratory insufficiency in the preterm infant, including the current therapy modalities on disposition are presented. Since the therapeutical challenge and primary clinical goal are to normalize ventilation ratio and lung perfusion, when respiratory insufficiency occurs, it is very important to introduce the respiratory support as soon possible, in order to reduce development of pulmonary cyanosis and edema, and intrapulmonary or intracardial shunts. A characteristic respiratory instability that reflects through fluctuations in gas exchange and ventilation is often present in premature infants. Adapting the respiratory support on a continuous basis to the infant's needs is challenging and not always effective. Although a large number of ventilation strategies for the neonate are available, there is a need for additional consensus on management of acute respiratory distress syndrome in pediatric population lately redefined by Berlin definition criteria, in order to efficiently apply various modes of respiratory support in daily pediatrician clinical use.

  3. The Effect of Gestational Age on Axial Length of the Eyes of Premature Infants

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    Mehmet Ali Sekeroglu

    2016-01-01

    Full Text Available Aim: The aim of the present study is to evaluate the axial length of the eyes of premature infants without retinopathy of prematurity and to document the relationship with gestational age and changes as infants grew-up. Material and Method: The axial length of the eyes were measured by using a mobile A-scan ultrasonographic biometry device just before the first retinopathy of prematurity screening examination and 4-weeks thereafter. Results: One-hundred and thirty-six infants with a mean gestational age of 31,7±2,7 weeks and a birth-weight of 1561.0±379.3 g were included in the study. Axial length measurements were done at a mean postconceptional age of 35.8 ±2.6 (31-40 and 39.8±2.7 (35-44 weeks, consecutively. The mean axial length at first and second visits were 16.43±0.42 mm (15.28-17.13 and 16.69±0.41 mm (15.60-17.70, consecutively (p

  4. Different ventilation modes combined with ambroxol in the treatment of respiratory distress syndrome in premature infants

    Science.gov (United States)

    Zhou, Bin; Zhai, Jing-Fang; Wu, Jie-Bin; Jin, Bao; Zhang, Yan-Yan

    2017-01-01

    The aim of the present study was to compare the effectiveness of different modes of mechanical ventilation in combination with secretolytic therapy with ambroxol in premature infants with respiratory distress syndrome. Seventy-three premature infants with hyaline membrane disease (HMD) (stage III–IV), also known as respiratory distress syndrome, who were supported by mechanical ventilation in the neonatal intensive care unit (NICU) of Xuzhou Central Hospital, were involved in the present study, between January 2013 and February 2015. Forty cases were randomly selected and treated with high frequency oscillatory ventilation (HFOV), forming the HFOV group, whereas 33 cases were selected and treated with conventional mechanical ventilation (CMV), forming the CMV group. Patients in the two groups were administered ambroxol intravenously at a dosage rate of 30 mg/kg body weight at the beginning of the study. The present study involved monitoring the blood gas index as well as changes in the respiratory function index in the two groups. Additionally, the incidence of complications in the premature infants in the two groups was observed prior to and following the ventilation. Pulmonary arterial oxygen tension (PaO2), the PaO2/fraction of inspired oxygen (FiO2) ratio, the oxygenation index [OI = 100 × mean airway pressure (MAP) × FiO2/PaO2], as well as the arterial/alveolar oxygen partial pressure ratio (a/APO2) = PaO2/(713 × FiO2 partial pressure of carbon dioxide (PaCO2)/0.8) of the patients in the HFOV group after 1, 12 and 24 h of treatment were significantly improved as compared to the patients of the CMV group. However, there was no significant difference between patients in the two groups with regard to the number of mortalities, complications such as pneumothorax, bronchopulmonary dysplasia (BPD), retinopathy of prematurity (ROP), intraventricular hemorrhage (IVH), periventricular leukomalacia (PVL), and the time of ventilation. In conclusion, combining HFOV

  5. Association of Maternal Age to Development and Progression of Retinopathy of Prematurity in Infants of Gestational Age under 33 Weeks

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    Atsuro Uchida

    2014-01-01

    Full Text Available Aim. To find predictive and indicative markers of risk for development of retinopathy of prematurity (ROP and its progression to the stage requiring laser treatment, in premature infants whose gestational age (GA was under 33 weeks. Methods. We retrospectively reviewed medical records of 197 premature infants born in 2005–2010 whose GA<33 weeks and underwent eye screening at Keio University Hospital. The association between candidate risk factors and development or progression of ROP was assessed. Results. Among the 182 eligible infants (median GA, 29.1 weeks; median birth weight (BW, 1028 g, 84 (46% developed any stage of ROP, of which 45 (25% required laser treatment. Multivariate analysis using a stepwise method showed that GA (P=0.002; 95% confidence interval (CI, 0.508–0.858, BW (P<0.001; 95% CI, 0.994–0.998, and lower maternal age (P=0.032; 95% CI, 0.819–0.991 were the risk factors for ROP development and GA (P<0.001; 95% CI, 0.387–0.609 and lower maternal age (P=0.012; 95% CI, 0.795–0.973 were for laser treatment. The odds ratio of requiring laser treatment was 3.3 when the maternal age was <33 years. Conclusion. ROP was more likely to be developed and progressed in infants born from younger mother and low GA.

  6. Prognostic value of neonatal electroencephalography in premature newborns less than 33 weeks of gestational age.

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    Marret, S; Parain, D; Ménard, J F; Blanc, T; Devaux, A M; Ensel, P; Fessard, C; Samson-Dollfus, D

    1997-03-01

    In a prospective study of 417 premature neonates born before 33 weeks' gestational age, neonatal tracings were reviewed to evaluate the use of EEG in prognosis of neurological injuries. The population was divided into two groups: Group 1, infants who died before the age of 1, and Group 2, survivors in which two categories of motor development were considered. Category A, were abnormal, and Category B, were always normal. Positive rolandic sharp waves (PRSW), which reflect white matter injury, occurred equally in both groups, indicating a similar incidence of white matter damage in Groups 1 and 2. In Group 2, there was a significant correlation of PRSW with developmental motor sequelae (Category A). A frequency of PRSW above 2/min (suggesting more severe periventricular white matter injury) and seizures were significantly more prevalent in Group 1 than in Group 2 and in Category A of Group 2 than in Category B. Background abnormalities occurred equally in both subgroups of extremely premature infants ( 28 weeks' gestation) and extremely (< or = 28 weeks' gestation) premature newborns.

  7. Homeostatic imbalance between apoptosis and cell renewal in the liver of premature aging Xpd mice.

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    Park, Jung Yoon; Cho, Mi-Ook; Leonard, Shanique; Calder, Brent; Mian, I Saira; Kim, Woo Ho; Wijnhoven, Susan; van Steeg, Harry; Mitchell, James; van der Horst, Gijsbertus T J; Hoeijmakers, Jan; Cohen, Pinchas; Vijg, Jan; Suh, Yousin

    2008-06-11

    Unrepaired or misrepaired DNA damage has been implicated as a causal factor in cancer and aging. Xpd(TTD) mice, harboring defects in nucleotide excision repair and transcription due to a mutation in the Xpd gene (R722W), display severe symptoms of premature aging but have a reduced incidence of cancer. To gain further insight into the molecular basis of the mutant-specific manifestation of age-related phenotypes, we used comparative microarray analysis of young and old female livers to discover gene expression signatures distinguishing Xpd(TTD) mice from their age-matched wild type controls. We found a transcription signature of increased apoptosis in the Xpd(TTD) mice, which was confirmed by in situ immunohistochemical analysis and found to be accompanied by increased proliferation. However, apoptosis rate exceeded the rate of proliferation, resulting in homeostatic imbalance. Interestingly, a metabolic response signature was observed involving decreased energy metabolism and reduced IGF-1 signaling, a major modulator of life span. We conclude that while the increased apoptotic response to endogenous DNA damage contributes to the accelerated aging phenotypes and the reduced cancer incidence observed in the Xpd(TTD) mice, the signature of reduced energy metabolism is likely to reflect a compensatory adjustment to limit the increased genotoxic stress in these mutants. These results support a general model for premature aging in DNA repair deficient mice based on cellular responses to DNA damage that impair normal tissue homeostasis.

  8. Homeostatic imbalance between apoptosis and cell renewal in the liver of premature aging Xpd mice.

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    Jung Yoon Park

    Full Text Available Unrepaired or misrepaired DNA damage has been implicated as a causal factor in cancer and aging. Xpd(TTD mice, harboring defects in nucleotide excision repair and transcription due to a mutation in the Xpd gene (R722W, display severe symptoms of premature aging but have a reduced incidence of cancer. To gain further insight into the molecular basis of the mutant-specific manifestation of age-related phenotypes, we used comparative microarray analysis of young and old female livers to discover gene expression signatures distinguishing Xpd(TTD mice from their age-matched wild type controls. We found a transcription signature of increased apoptosis in the Xpd(TTD mice, which was confirmed by in situ immunohistochemical analysis and found to be accompanied by increased proliferation. However, apoptosis rate exceeded the rate of proliferation, resulting in homeostatic imbalance. Interestingly, a metabolic response signature was observed involving decreased energy metabolism and reduced IGF-1 signaling, a major modulator of life span. We conclude that while the increased apoptotic response to endogenous DNA damage contributes to the accelerated aging phenotypes and the reduced cancer incidence observed in the Xpd(TTD mice, the signature of reduced energy metabolism is likely to reflect a compensatory adjustment to limit the increased genotoxic stress in these mutants. These results support a general model for premature aging in DNA repair deficient mice based on cellular responses to DNA damage that impair normal tissue homeostasis.

  9. Factors influencing the motor development of prematurely born school-aged children in Brazil.

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    Moreira, Rafaela S; Magalhães, Lívia C; Dourado, Jordana S; Lemos, Stela M A; Alves, Claudia R L

    2014-09-01

    Despite technological advances in neonatology, premature children are still susceptible to disruptions in neurological development. The current study aimed to analyze the factors that influence motor development in prematurely born school-aged children in Brazil. This cross-sectional study involved 100 "apparently normal" children, aged 8-10 years, born at less than 35 weeks of gestation or with birth weightmotor development was assessed using the Movement Assessment Battery for Children (MABC-2). The children's neuropsychological and academic performance was assessed with the Token Test (TT) and Teste de Desempenho Escolar (TDE), respectively. Parents answered questions regarding the child's clinical history and behavior using the Strengths and Difficulties Questionnaire (SDQ) and family environment resources (RAF). Hierarchical multivariate analyses revealed that 39% of the children scored lower on the MABC-2, as compared to that expected for their age (manual dexterity: 49%; balance: 35%; throwing/catching a ball: 26%). Multivariate analysis indicated that the lower the birth weight, the maternal age at childbirth, and the RAF score, the greater was the chance of impairment on the MABC-2 scores. The probability of having an impairment MABC-2 scores was four times higher when the mother was not employed. We also found associations between MABC-2 scores and the tasks of tying shoes and opening/closing zippers and buttons. Factors related to children's home environments and birth weight are associated with deficient motor performance in prematurely born Brazilian school-aged children. Deficient motor skills were also associated with difficulty in performing functional tasks requiring greater manual dexterity.

  10. Clinical sonography in premature infant: Sonographic analysis of incidence and grade of germinal metrixhemorrhage according to gestational age,risk

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    Kim, Jae Hyoung; Kim, I. W.; Yeon, K. M. [Seoul National University College of Medicine, Seoul (Korea, Republic of)

    1989-12-15

    The authors reviewed 63 premature infants who was born from January 1986 to August 1988 at College of Medicine Seoul National University, to analyze grade of germinal metrixhemorrhage to gestational age, risk.

  11. Molecular analysis of genes on Xp controlling Turner syndrome and premature ovarian failure (POF).

    Science.gov (United States)

    Zinn, A R; Ross, J L

    2001-06-01

    Monosomy X has been known to be the chromosomal basis of Turner syndrome (TS) for more than four decades. A large body of cytogenetic data indicates that most TS features are due to reduced dosage of genes on the short arm of the X chromosome (Xp). Phenotype mapping studies using molecular cytogenetic and genetic techniques are beginning to localize the Xp genes that are important for various TS features, and a comprehensive catalog of candidate genes is becoming available through the Human Genome Project and related research. It is now possible to assess the contributions of individual genes to the TS phenotype by mutational analysis of karyotypically normal persons with specific TS features. This strategy has succeeded in identifying a gene involved in short stature and is being applied to premature ovarian failure and other TS phenotypes.

  12. Aging of Hutchinson-Gilford progeria syndrome fibroblasts is characterised by hyperproliferation and increased apoptosis.

    Science.gov (United States)

    Bridger, Joanna M; Kill, Ian R

    2004-05-01

    Hutchinson-Gilford progeria syndrome is a rare genetic disorder that mimics certain aspects of aging prematurely. Recent work has revealed that mutations in the lamin A gene are a cause of the disease. We show here that cellular aging of Hutchinson-Gilford progeria syndrome fibroblasts is characterised by a period of hyperproliferation and terminates with a large increase in the rate of apoptosis. The occurrence of cells with abnormal nuclear morphology reported by others is shown to be a result of cell division since the fraction of these abnormalities increases with cellular age. Similarly, the proportion of cells with an abnormal or absent A-type lamina increases with age. These data provide clues as to the cellular basis for premature aging in HGPS and support the view that cellular senescence and tissue homeostasis are important factors in the normal aging process.

  13. Characterization of monoaminergic systems in brain regions of prematurely ageing mice.

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    De la Fuente, Monica; Hernanz, Angel; Medina, Sonia; Guayerbas, Noelia; Fernández, Beatriz; Viveros, Maria Paz

    2003-07-01

    We have previously shown that differences in life span among members of Swiss mouse populations appear to be related to their exploration of a T-maze, with a slow exploration ("slow mice") being linked to increased levels of emotionality/anxiety, an impaired immune function and a shorter life span. Thus, we proposed the slow mice as prematurely ageing mice (PAM). We have now compared the monoaminergic systems of the PAM and of the non-prematurely ageing mice (NPAM), in discrete brain regions. PAM had decreased noradrenaline (NA) levels in all the brain regions analysed, whereas the 3-methoxy-4-hydroxyphenyl glycol (MHPG)/NA ratios were not significantly modified. PAM also showed decreased serotonine (5-HT) levels in hypothalamus, striatum and midbrain, as well as increased 5-hydroxyindol-3-acetic acid (5-HIAA)/5-HT ratios in hypothalamus and hippocampus. The dopamine (DA) content was lower in PAM in most regions, whereas the 3,4-dihydroxyphenylacetic acid (DOPAC)/DA and homovanillic acid (HVA)/DA ratios were either increased or unchanged depending on the region analysed. In most cases, the differences between PAM and NPAM involved both sexes. One exception was the hypothalamus where the differences only affected the male mice. The neurochemical alterations found in PAM resemble some changes reported for aged animals and are related with their behavioural features.

  14. Determinants of Indices of Cerebral Volume in Former Very Premature Infants at Term Equivalent Age

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    Wirth, Maelle

    2017-01-01

    Conventional magnetic resonance imaging (MRI) at term equivalent age (TEA) is suggested to be a reliable tool to predict the outcome of very premature infants. The objective of this study was to determine simple reproducible MRI indices, in premature infants and to analyze their neonatal determinants at TEA. A cohort of infants born before 32 weeks gestational age (GA) underwent a MRI at TEA in our center. Two axial images (T2 weighted), were chosen to realize nine measures. We defined 4 linear indices (MAfhlv: thickness of lateral ventricle; CSI: cortex-skull index; VCI: ventricular-cortex index; BOI: bi occipital index) and 1 surface index (VS.A: volume slice area). Perinatal data were recorded. Sixty-nine infants had a GA (median (interquartile range)) of 30.0 weeks GA (27.0; 30.0) and a birth weight of 1240 grams (986; 1477). MRI was done at 41.0 (40.0; 42.0) weeks post menstrual age (PMA). The inter-investigator reproducibility was good. Twenty one MRI (30.5%) were quoted abnormal. We observed an association with retinopathy of prematurity (OR [95CI] = 4.205 [1.231–14.368]; p = 0.017), surgery for patent ductus arteriosus (OR = 4.688 [1.01–21.89]; p = 0.036), early onset infection (OR = 4.688 [1.004–21.889]; p = 0.036) and neonatal treatment by cefotaxime (OR = 3.222 [1.093–9.497]; p = 0.03). There was a difference for VCI between normal and abnormal MRI (0.412 (0.388; 0.429) vs. 0.432 (0.418; 0.449); p = 0,019); BOI was higher when fossa posterior lesions were observed; VS.A seems to be the best surrogate for cerebral volume, 80% of VS.As’ variance being explained by a multiple linear regression model including 7 variables (head circumference at birth and at TEA, PMA, dopamine, ibuprofen treatment, blood and platelets transfusions). These indices, easily and rapidly achievable, seem to be useful but need to be validated in a large population to allow generalization for diagnosis and follow-up of former premature infants. PMID:28125676

  15. The relationship of birth weight, gestational age, and postmenstrual age with ocular biometry parameters in premature infants

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    Ozdemir Ozdemir

    2015-06-01

    Full Text Available ABSTRACT Purpose: To analyze ocular biometry parameters and evaluate their relationship with gestational age, birth weight, and postmenstrual age in prematurely born infants. Methods: The right eyes of 361 premature infants born before the 36th gestational week were evaluated. Birth weight, gestational week, and gender were recorded. An A-scan Biometer was used for obtaining axial measurements, including anterior chamber depth, lens thickness, vitreous length, and total axial length. Results: Gestational age and birth weight values ranged from 23 to 36 weeks and from 560 to 2,670 g, respectively. The mean gestational age and birth weight were 30.8 ± 2.8 weeks and 1,497.9 ± 483.6 g, respectively. During the first examination (4-5 weeks of postnatal age, birth weight and gestational age of the infants correlated significantly and positively with lens thickness, vitreous length, and axial length (r>0.5, p<0.001, but not with anterior chamber depth (r<0.5. Increased vitreous and axial lengths correlated significantly with increasing postmenstrual age of the infants (r=0.669, p<0.001; r=0.845, p<0.001, respectively. Conclusions: Lens thickness, vitreous length, and axial length, but not anterior chamber depth, were significantly correlated with birth weight and gestational age. All four parameters increased with increasing postmenstrual age, with higher correlations for vitreous and axial lengths than for anterior chamber depth and lens thickness. It was concluded that axial elongation resulted primarily from increasing posterior chamber length.

  16. Premature Birth and Large for Gestational Age Are Associated with Risk of Barrett's Esophagus in Adults.

    Science.gov (United States)

    Shiota, Seiji; El-Serag, Hashem B; Thrift, Aaron P

    2016-04-01

    Birth characteristics, including weight and gestational age, may be associated with risk of Barrett's esophagus (BE), the only known precursor for esophageal adenocarcinoma; however, data are limited. To examine associations between various birth characteristics and BE, and whether these associations are mediated by known risk factors for BE. Data were obtained from a cross-sectional study among eligible Veterans Affairs patients scheduled for an upper endoscopy, and a sample identified from primary care clinics. Participants underwent an esophagogastroduodenoscopy and completed a survey that captured information on sociodemographic and clinical factors, as well as birth information. We compared 263 patients with histologically confirmed BE to 1416 controls without BE on endoscopy. Odds ratios (ORs) and 95 % confidence intervals (CIs) were calculated using multivariate logistic regression. Premature birth was independently associated with risk of BE after adjusted by age, sex, race, and other birth characteristics (OR 3.28, 95 % CI 1.22-8.79). On the other hand, large for gestational age was inversely associated with risk of BE (OR 0.46, 95 % CI 0.21-0.98). These effects were stronger for patients with long-segment BE than with short-segment BE. The associations were not mediated by gastroesophageal reflux disease symptoms, use of proton pump inhibitors, Helicobacter Pylori infection, waist-hip-ratio, height or the presence of hiatus hernia. Premature birth and large for gestational age may be associated with risk of BE in adults. These associations do not appear to be mediated through known risk factors for BE; however, additional studies are required to confirm our findings.

  17. Atypical perceptual narrowing in prematurely born infants is associated with compromised language acquisition at 2 years of age.

    Science.gov (United States)

    Jansson-Verkasalo, Eira; Ruusuvirta, Timo; Huotilainen, Minna; Alku, Paavo; Kushnerenko, Elena; Suominen, Kalervo; Rytky, Seppo; Luotonen, Mirja; Kaukola, Tuula; Tolonen, Uolevi; Hallman, Mikko

    2010-07-30

    Early auditory experiences are a prerequisite for speech and language acquisition. In healthy children, phoneme discrimination abilities improve for native and degrade for unfamiliar, socially irrelevant phoneme contrasts between 6 and 12 months of age as the brain tunes itself to, and specializes in the native spoken language. This process is known as perceptual narrowing, and has been found to predict normal native language acquisition. Prematurely born infants are known to be at an elevated risk for later language problems, but it remains unclear whether these problems relate to early perceptual narrowing. To address this question, we investigated early neurophysiological phoneme discrimination abilities and later language skills in prematurely born infants and in healthy, full-term infants. Our follow-up study shows for the first time that perceptual narrowing for non-native phoneme contrasts found in the healthy controls at 12 months was not observed in very prematurely born infants. An electric mismatch response of the brain indicated that whereas full-term infants gradually lost their ability to discriminate non-native phonemes from 6 to 12 months of age, prematurely born infants kept on this ability. Language performance tested at the age of 2 years showed a significant delay in the prematurely born group. Moreover, those infants who did not become specialized in native phonemes at the age of one year, performed worse in the communicative language test (MacArthur Communicative Development Inventories) at the age of two years. Thus, decline in sensitivity to non-native phonemes served as a predictor for further language development. Our data suggest that detrimental effects of prematurity on language skills are based on the low degree of specialization to native language early in development. Moreover, delayed or atypical perceptual narrowing was associated with slower language acquisition. The results hence suggest that language problems related to

  18. Atypical perceptual narrowing in prematurely born infants is associated with compromised language acquisition at 2 years of age

    Directory of Open Access Journals (Sweden)

    Suominen Kalervo

    2010-07-01

    Full Text Available Abstract Background Early auditory experiences are a prerequisite for speech and language acquisition. In healthy children, phoneme discrimination abilities improve for native and degrade for unfamiliar, socially irrelevant phoneme contrasts between 6 and 12 months of age as the brain tunes itself to, and specializes in the native spoken language. This process is known as perceptual narrowing, and has been found to predict normal native language acquisition. Prematurely born infants are known to be at an elevated risk for later language problems, but it remains unclear whether these problems relate to early perceptual narrowing. To address this question, we investigated early neurophysiological phoneme discrimination abilities and later language skills in prematurely born infants and in healthy, full-term infants. Results Our follow-up study shows for the first time that perceptual narrowing for non-native phoneme contrasts found in the healthy controls at 12 months was not observed in very prematurely born infants. An electric mismatch response of the brain indicated that whereas full-term infants gradually lost their ability to discriminate non-native phonemes from 6 to 12 months of age, prematurely born infants kept on this ability. Language performance tested at the age of 2 years showed a significant delay in the prematurely born group. Moreover, those infants who did not become specialized in native phonemes at the age of one year, performed worse in the communicative language test (MacArthur Communicative Development Inventories at the age of two years. Thus, decline in sensitivity to non-native phonemes served as a predictor for further language development. Conclusion Our data suggest that detrimental effects of prematurity on language skills are based on the low degree of specialization to native language early in development. Moreover, delayed or atypical perceptual narrowing was associated with slower language acquisition. The

  19. Premature aging in mice activates a systemic metabolic response involving autophagy induction.

    Science.gov (United States)

    Mariño, Guillermo; Ugalde, Alejandro P; Salvador-Montoliu, Natalia; Varela, Ignacio; Quirós, Pedro M; Cadiñanos, Juan; van der Pluijm, Ingrid; Freije, José M P; López-Otín, Carlos

    2008-07-15

    Autophagy is a highly regulated intracellular process involved in the turnover of most cellular constituents and in the maintenance of cellular homeostasis. It is well-established that the basal autophagic activity of living cells decreases with age, thus contributing to the accumulation of damaged macromolecules during aging. Conversely, the activity of this catabolic pathway is required for lifespan extension in animal models such as Caenorhabditis elegans and Drosophila melanogaster. In this work, we describe the unexpected finding that Zmpste24-null mice, which show accelerated aging and are a reliable model of human Hutchinson-Gilford progeria, exhibit an extensive basal activation of autophagy instead of the characteristic decline in this process occurring during normal aging. We also show that this autophagic increase is associated with a series of changes in lipid and glucose metabolic pathways, which resemble those occurring in diverse situations reported to prolong lifespan. These Zmpste24(-/-) mice metabolic alterations are also linked to substantial changes in circulating blood parameters, such as leptin, glucose, insulin or adiponectin which in turn lead to peripheral LKB1-AMPK activation and mTOR inhibition. On the basis of these results, we propose that nuclear abnormalities causing premature aging in Zmpste24(-/-) mice trigger a metabolic response involving the activation of autophagy. However, the chronic activation of this catabolic pathway may turn an originally intended pro-survival strategy into a pro-aging mechanism and could contribute to the systemic degeneration and weakening observed in these progeroid mice.

  20. Agenesis of the corpus callosumina premature infant associated with Langdon-Down syndrome

    Directory of Open Access Journals (Sweden)

    Velisavljev-Filipović Gordana

    2005-01-01

    Full Text Available Introduction Agenesis of the corpus callosum is an abnormality of the part of the brain connecting the two cerebral hemispheres. It can be partial, complete or atypical. The fibers from the cerebral cortex project towards the homotypical region of the contra-lateral cortex passing through the corpus callosum, and crossing the middle line. The absence of corpus callosum causes failure of information transfer from one hemisphere to the other. Children with this anomaly present with learning disabilities and trouble with memorizing facts. Agenesis of corpus callosum may be of syndromic or non-syndromic type. The more common form is the one not associated with any syndrome. The agenesis of corpus callosum is more frequent in male children. Case report This paper presents a child from a twin pregnancy with partial absence of corpus callosum. The pregnancy was not controlled. It ended in premature birth. The afflicted twin is a boy, second in birth order. Apart from agenesis of corpus callosum, he also suffers from Down syndrome. The first twin is healthy, with corpus callosum and with normal karyotype. There was no consanguinity. In the 6th month of pregnancy the mother suffered from infection of the upper respiratory tract that might be the etiological factor of this anomaly. The child was born with hypotrophy, and all anthropometric parameters were below the third percentile. In the neonatal period, the agenesis of corpus callosum was diagnosed by ultrasonic examination and confirmed by CT and MR examinations. The child is now three and a half month old. Active monitoring of the psychical and motor development will show whether there will be any retardation in the psycho-motor development and later deficiency of the higher cortical functions and intelligence. Discussion and Conclusion The clinical characteristics of this anomaly are numerous. They range from asymptomatic cases, with normal intellectual capacity, to severe mental retardation

  1. Neurodevelopmental sequelae in premature newborns with extremely low weight and with very low weight at two years of age who left the Neonatal Intensive Care Unit of the Hospital Nacional Edgardo Rebagliati Martins 2009-2014

    Directory of Open Access Journals (Sweden)

    Carmen Fernández Sierra

    2017-02-01

    Full Text Available Objective: The purpose of this study is to describe the neurodevelopmental sequelae in premature newborns with extremely low weight and with very low weight at two years of age who left the Neonatal Intensive Care Unit of the Hospital Nacional Edgardo Rebagliati Martins. Materials and methods: A descriptive, retrospective, cross-sectional study in a population of 190 premature newborns with extremely low weight and with very low weight born from January 2009 to June 2014 who left the Neonatal Intensive Care Unit and took part in the follow-up program. The psychomotor development, sensorineural hearing loss, retinopathy of prematurity, presence of cerebral palsy and convulsive syndrome were assessed. Results: The average weight at birth was 1,180.53 ± 212.40 grams with a gestational age of 29.86 ± 2.33 weeks, and 51.58% of the newborns were male. Forty-two point six three percent (42.63% of the premature newborns with very low weight showed retardation of psychomotor development; 25.26%, retinopathy; 13.68%, sensorineural hearing loss; 3.68%, cerebral palsy; and 3.68%, convulsive syndrome. Fifty-two point two seven percent (52.27% of the premature newborns with extremely low weight showed retardation of psychomotor development; 50%, retinopathy; 15.91%, sensorineural hearing loss; and 2.27%, convulsive syndrome. Conclusions: Retardation of psychomotor development and retinopathy were the most important complications shown by premature newborns with extremely low weight and with very low weight at two years of age.

  2. Premature ovarian failure (POF) syndrome: towards the molecular clinical analysis of its genetic complexity.

    Science.gov (United States)

    Fassnacht, W; Mempel, A; Strowitzki, T; Vogt, P H

    2006-01-01

    The Premature Ovarian Failure (POF) syndrome is a very heterogeneous clinical disorder due probably to the complex genetic networks controlling human folliculogenesis. Clinical subgroups of POF patients whose aetiology of ovarian failure is based on the same genetic factors are therefore difficult to establish. Some experimental evidence suggests that these genes might be clustered on the female sex chromosome in the POF1 and POF2 loci. This review is aimed to present an overview of the actual structural changes of the X chromosome causing POF, and to present a number of X and autosomal female fertility genes which are probably key genes in human folliculogenesis and are therefore prominent POF candidate genes. Towards the molecular analysis of their functional contribution to the genetic aetiology of POF in the clinic, an interdisciplinary scheme for their diagnostic analysis is presented in a pilot study focussed on chromosome analyses and the expression analysis of some major POF candidate genes (DAZL, DBX, FOXL2, INHalpha, GDF9, USP9X) in the leukocytes of 101 POF patients. It starts with a comprehensive and significantly improved clinical diagnostic program for this large and heterogeneous patient group.

  3. Homeostatic imbalance between apoptosis and cell renewal in the liver of premature aging XpdTTD mice

    NARCIS (Netherlands)

    J.Y. Park; M.O. Cho; S. Leonard (Shanique); B. Calder (Brent); I.S. Mian (Saira); W.H. Kim (Woo); S.W.P. Wijnhoven (Susan); H. van Steeg (Harry); J.R. Mitchell (James); G.T.J. van der Horst (Gijsbertus); J.H.J. Hoeijmakers (Jan); P. Cohen (Pinchas); J. Vijg (Jan); Y. Suh (Yousin)

    2008-01-01

    textabstractUnrepaired or misrepaired DNA damage has been implicated as a causal factor in cancer and aging. XpdTTDmice, harboring defects in nucleotide excision repair and transcription due to a mutation in the Xpd gene (R722W), display severe symptoms of premature aging but have a rduced incidence

  4. Homeostatic imbalance between apoptosis and cell renewal in the liver of premature aging XpdTTD mice

    NARCIS (Netherlands)

    J.Y. Park; M.O. Cho; S. Leonard (Shanique); B. Calder (Brent); I.S. Mian (Saira); W.H. Kim (Woo); S.W.P. Wijnhoven (Susan); H. van Steeg (Harry); J.R. Mitchell (James); G.T.J. van der Horst (Gijsbertus); J.H.J. Hoeijmakers (Jan); P. Cohen (Pinchas); J. Vijg (Jan); Y. Suh (Yousin)

    2008-01-01

    textabstractUnrepaired or misrepaired DNA damage has been implicated as a causal factor in cancer and aging. XpdTTDmice, harboring defects in nucleotide excision repair and transcription due to a mutation in the Xpd gene (R722W), display severe symptoms of premature aging but have a rduced incidence

  5. Specific deletion of NaV1.1 sodium channels in inhibitory interneurons causes seizures and premature death in a mouse model of Dravet syndrome

    OpenAIRE

    Cheah, Christine S.; Yu, Frank H.; Westenbroek, Ruth E.; Kalume, Franck K.; Oakley, John C; Potter, Gregory B.; Rubenstein, John L.; Catterall, William A.

    2012-01-01

    Heterozygous loss-of-function mutations in the brain sodium channel NaV1.1 cause Dravet syndrome (DS), a pharmacoresistant infantile-onset epilepsy syndrome with comorbidities of cognitive impairment and premature death. Previous studies using a mouse model of DS revealed reduced sodium currents and impaired excitability in GABAergic interneurons in the hippocampus, leading to the hypothesis that impaired excitability of GABAergic inhibitory neurons is the cause of epilepsy and premature deat...

  6. Loss of HtrA2/Omi activity in non-neuronal tissues of adult mice causes premature aging.

    Science.gov (United States)

    Kang, S; Louboutin, J-P; Datta, P; Landel, C P; Martinez, D; Zervos, A S; Strayer, D S; Fernandes-Alnemri, T; Alnemri, E S

    2013-02-01

    mnd2 mice die prematurely as a result of neurodegeneration 30-40 days after birth due to loss of the enzymatic activity of the mitochondrial quality control protease HtrA2/Omi. Here, we show that transgenic expression of human HtrA2/Omi in the central nervous system of mnd2 mice rescues them from neurodegeneration and prevents their premature death. Interestingly, adult transgenic mnd2 mice develop accelerated aging phenotypes, such as premature weight loss, hair loss, reduced fertility, curvature of the spine, heart enlargement, increased autophagy, and death by 12-17 months of age. These mice also have elevated levels of clonally expanded mitochondrial DNA (mtDNA) deletions in their tissues. Our results provide direct genetic evidence linking mitochondrial protein quality control to mtDNA deletions and aging in mammals.

  7. Association of the rs1346044 Polymorphism of the Werner Syndrome Gene RECQL2 with Increased Risk and Premature Onset of Breast Cancer.

    Science.gov (United States)

    Zins, Karin; Frech, Barbara; Taubenschuss, Eva; Schneeberger, Christian; Abraham, Dietmar; Schreiber, Martin

    2015-12-10

    Like other RECQ helicases, WRN/RECQL2 plays a crucial role in DNA replication and the maintenance of genome stability. Inactivating mutations in RECQL2 lead to Werner syndrome, a rare autosomal disease associated with premature aging and an increased susceptibility to multiple cancer types. We analyzed the association of two coding single-nucleotide polymorphisms in WRN, Cys1367Arg (rs1346044), and Arg834Cys (rs3087425), with the risk, age at onset, and clinical subclasses of breast cancer in a hospital-based case-control study of an Austrian population of 272 breast cancer patients and 254 controls. Here we report that the rare homozygous CC genotype of rs1346044 was associated with an approximately two-fold elevated breast cancer risk. Moreover, patients with the CC genotype exhibited a significantly increased risk of developing breast cancer under the age of 55 in both recessive and log-additive genetic models. CC patients developed breast cancer at a mean age of 55.2 ± 13.3 years and TT patients at 60.2 ± 14.7 years. Consistently, the risk of breast cancer was increased in pre-menopausal patients in the recessive model. These findings suggest that the CC genotype of WRN rs1346044 may contribute to an increased risk and a premature onset of breast cancer.

  8. Accelerated epigenetic aging in Down syndrome

    OpenAIRE

    Horvath, Steve; Garagnani, Paolo; Bacalini, Maria Giulia; Pirazzini, Chiara; Salvioli, Stefano; Gentilini, Davide; Di Blasio, Anna Maria; Giuliani, Cristina; Tung, Spencer; Vinters, Harry V; Franceschi, Claudio

    2015-01-01

    Down Syndrome (DS) entails an increased risk of many chronic diseases that are typically associated with older age. The clinical manifestations of accelerated aging suggest that trisomy 21 increases the biological age of tissues, but molecular evidence for this hypothesis has been sparse. Here, we utilize a quantitative molecular marker of aging (known as the epigenetic clock) to demonstrate that trisomy 21 significantly increases the age of blood and brain tissue (on average by 6.6 years, P ...

  9. Vanishing honey bees: Is the dying of adult worker bees a consequence of short telomeres and premature aging?

    Science.gov (United States)

    Stindl, Reinhard; Stindl, Wolfgang

    2010-10-01

    Einstein is often quoted to have said that without the bee, mankind would have but 4years to live. It is highly unlikely that he made this comment, which was even mentioned in a Lancet article on honey bees. However, the current vanishing of the bees can have serious consequences for human health, because 35% of the human diet is thought to benefit from pollination. Colony collapse disorder (CCD) in honey bees is characterized by the rapid decline of the adult bee population, leaving the brood and the queen poorly or completely unattended, with no dead bodies in or around the hive. A large study found no evidence that the presence or amount of any individual pesticide or infectious agent occurred more frequently or abundantly in CCD-affected colonies. The growing consensus is that honey bees are suffering from comprised immune systems, which allow various infectious pathogens to invade. The question remains, what causes immunosuppression in many colonies of Apis mellifera in North America and Europe? Telomeres are protective DNA structures located at eukaryotic chromosome tips that shorten in the somatic tissues of animals with age. Lifelong tissue regeneration takes place in Apis mellifera, and worker bees have been shown to senesce. In humans, a vast amount of literature has accumulated on exhausted telomere reserves causing impaired tissue regeneration and age-associated diseases, specifically cancer and immunosuppression. Therefore, we propose a new causative mechanism for the vanishing of the bees: critically short telomeres in long-lived winter bees. We term this the telomere premature aging syndrome. Copyright 2010 Elsevier Ltd. All rights reserved.

  10. Ageing and Brugada syndrome: considerations and recommendations

    Institute of Scientific and Technical Information of China (English)

    Pieter G. Postema; Hanno L Tan; Arthur AM Wilde

    2013-01-01

    Brugada syndrome is an inherited disease associated with an increased risk of lethal ventricular arrhythmias. Such arrhythmias stem from innate disruptions in cardiac electrophysiology. Typically, such arrhythmias occur in the third or fourth decade of life. However, Brugada syndrome may also affect geriatric patients. In this paper, we focus on the ageing patient with Brugada syndrome, and specifically, on the interaction between Brugada syndrome and the more usually acquired clinical problems that may occur with increasing age, such as the use of cardiovascular and non-cardiovascular drugs, or the need for surgery. Such common conditions may also disrupt cardiac electrophysiology, thereby conferring added risk for Brugada syndrome patients. We present some considerations and recommendations that may serve as guidance to address these complexities.

  11. Aging stem cells. A Werner syndrome stem cell model unveils heterochromatin alterations as a driver of human aging.

    Science.gov (United States)

    Zhang, Weiqi; Li, Jingyi; Suzuki, Keiichiro; Qu, Jing; Wang, Ping; Zhou, Junzhi; Liu, Xiaomeng; Ren, Ruotong; Xu, Xiuling; Ocampo, Alejandro; Yuan, Tingting; Yang, Jiping; Li, Ying; Shi, Liang; Guan, Dee; Pan, Huize; Duan, Shunlei; Ding, Zhichao; Li, Mo; Yi, Fei; Bai, Ruijun; Wang, Yayu; Chen, Chang; Yang, Fuquan; Li, Xiaoyu; Wang, Zimei; Aizawa, Emi; Goebl, April; Soligalla, Rupa Devi; Reddy, Pradeep; Esteban, Concepcion Rodriguez; Tang, Fuchou; Liu, Guang-Hui; Belmonte, Juan Carlos Izpisua

    2015-06-05

    Werner syndrome (WS) is a premature aging disorder caused by WRN protein deficiency. Here, we report on the generation of a human WS model in human embryonic stem cells (ESCs). Differentiation of WRN-null ESCs to mesenchymal stem cells (MSCs) recapitulates features of premature cellular aging, a global loss of H3K9me3, and changes in heterochromatin architecture. We show that WRN associates with heterochromatin proteins SUV39H1 and HP1α and nuclear lamina-heterochromatin anchoring protein LAP2β. Targeted knock-in of catalytically inactive SUV39H1 in wild-type MSCs recapitulates accelerated cellular senescence, resembling WRN-deficient MSCs. Moreover, decrease in WRN and heterochromatin marks are detected in MSCs from older individuals. Our observations uncover a role for WRN in maintaining heterochromatin stability and highlight heterochromatin disorganization as a potential determinant of human aging.

  12. NRMT1 knockout mice exhibit phenotypes associated with impaired DNA repair and premature aging.

    Science.gov (United States)

    Bonsignore, Lindsay A; Tooley, John G; Van Hoose, Patrick M; Wang, Eugenia; Cheng, Alan; Cole, Marsha P; Schaner Tooley, Christine E

    2015-03-01

    Though defective genome maintenance and DNA repair have long been known to promote phenotypes of premature aging, the role protein methylation plays in these processes is only now emerging. We have recently identified the first N-terminal methyltransferase, NRMT1, which regulates protein-DNA interactions and is necessary for both accurate mitotic division and nucleotide excision repair. To demonstrate if complete loss of NRMT1 subsequently resulted in developmental or aging phenotypes, we constructed the first NRMT1 knockout (Nrmt1(-/-)) mouse. The majority of these mice die shortly after birth. However, the ones that survive, exhibit decreased body size, female-specific infertility, kyphosis, decreased mitochondrial function, and early-onset liver degeneration; phenotypes characteristic of other mouse models deficient in DNA repair. The livers from Nrmt1(-/-) mice produce less reactive oxygen species (ROS) than wild type controls, and Nrmt1(-/-) mouse embryonic fibroblasts show a decreased capacity for handling oxidative damage. This indicates that decreased mitochondrial function may benefit Nrmt1(-/-) mice and protect them from excess internal ROS and subsequent DNA damage. These studies position the NRMT1 knockout mouse as a useful new system for studying the effects of genomic instability and defective DNA damage repair on organismal and tissue-specific aging.

  13. Signaling pathway activation drift during aging: Hutchinson-Gilford Progeria Syndrome fibroblasts are comparable to normal middle-age and old-age cells.

    Science.gov (United States)

    Aliper, Alexander M; Csoka, Antonei Benjamin; Buzdin, Anton; Jetka, Tomasz; Roumiantsev, Sergey; Moskalev, Alexy; Zhavoronkov, Alex

    2015-01-01

    For the past several decades, research in understanding the molecular basis of human aging has progressed significantly with the analysis of premature aging syndromes. Progerin, an altered form of lamin A, has been identified as the cause of premature aging in Hutchinson-Gilford Progeria Syndrome (HGPS), and may be a contributing causative factor in normal aging. However, the question of whether HGPS actually recapitulates the normal aging process at the cellular and organismal level, or simply mimics the aging phenotype is widely debated. In the present study we analyzed publicly available microarray datasets for fibroblasts undergoing cellular aging in culture, as well as fibroblasts derived from young, middle-age, and old-age individuals, and patients with HGPS. Using GeroScope pathway analysis and drug discovery platform we analyzed the activation states of 65 major cellular signaling pathways. Our analysis reveals that signaling pathway activation states in cells derived from chronologically young patients with HGPS strongly resemble cells taken from normal middle-aged and old individuals. This clearly indicates that HGPS may truly represent accelerated aging, rather than being just a simulacrum. Our data also points to potential pathways that could be targeted to develop drugs and drug combinations for both HGPS and normal aging.

  14. Prevalence of prostatitis-like symptoms in outpatients with four premature ejaculation syndromes: a study in 438 men complaining of ejaculating prematurely

    Science.gov (United States)

    Tang, Dongdong; Zhang, Xiansheng; Hao, Zongyao; Zhou, Jun; Liang, Chaozhao

    2014-01-01

    Objective: To evaluate the incidence of prostatitis-like symptoms (PLS) in men with or without PE, and the differences among the 438 outpatients with the four PE syndromes. Subjects and methods: Between January 2012 and January 2013, 438 consecutive heterosexual men complaining of PE and another 493 male healthy subjects without the complaint were included in this study. Each of them completed a detailed face-to-face questionnaire for information of demographics, National Institutes of Health-Chronic Prostatitis Symptom Index (NIH-CPSI), and International Index of Erectile Function-5 (IIEF-5). Each patient was classified as one of the four PE subtypes: lifelong PE (LPE), acquired PE (APE), natural variable PE (NVPE), or premature-like ejaculatory dysfunction (PLED). Results: There were no significant difference between patients and control subjects regarding demographics. In the PE group, the prevalence of PLS were 32%, showing statistical significance compared with control subjects (15.8%, P<0.001). And the NIH-CPSI score was 10.0±7.9, showing significant difference compared with control subjects (6.0± 5.4, P<0.001). Among the four PE syndromes, patients with PLED had the highest prevalence of PLS (42.3%, P<0.001), but the difference of NIH-CPSI scores among the four PE syndromes was not significant (P=0.055). Conclusions: PLS were more common in patients with PE. Also, patients had worse NIH-CPSI scores than the control subjects. Therefore, patients with PLED had the highest incidence of PLS. PMID:25126187

  15. Premature ovarian failure and ovarian autoimmunity

    NARCIS (Netherlands)

    J.A. Schoemaker (Joop); H.A. Drexhage (Hemmo); A. Hoek (Annemieke)

    1997-01-01

    textabstractPremature ovarian failure (POF) is defined as a syndrome characterized by menopause before the age of 40 yr. The patients suffer from anovulation and hypoestrogenism. Approximately 1% of women will experience menopause before the age of 40 yr. POF is a

  16. Premature ovarian failure and ovarian autoimmunity

    NARCIS (Netherlands)

    J.A. Schoemaker (Joop); H.A. Drexhage (Hemmo); A. Hoek (Annemieke)

    1997-01-01

    textabstractPremature ovarian failure (POF) is defined as a syndrome characterized by menopause before the age of 40 yr. The patients suffer from anovulation and hypoestrogenism. Approximately 1% of women will experience menopause before the age of 40 yr. POF is a heter

  17. Premature ovarian failure and ovarian autoimmunity

    NARCIS (Netherlands)

    J.A. Schoemaker (Joop); H.A. Drexhage (Hemmo); A. Hoek (Annemieke)

    1997-01-01

    textabstractPremature ovarian failure (POF) is defined as a syndrome characterized by menopause before the age of 40 yr. The patients suffer from anovulation and hypoestrogenism. Approximately 1% of women will experience menopause before the age of 40 yr. POF is a heter

  18. Premature Aging of the Microcirculation in Patients with Advanced Chronic Kidney Disease

    Directory of Open Access Journals (Sweden)

    Oanh H.D. Thang

    2012-11-01

    Full Text Available Background: Increasing age and advanced chronic kidney disease (CKD are both associated with an attenuated vasodilator response of the skin microcirculation. In the present study, we investigated the effect of aging on microvascular reactivity in patients with advanced CKD. Methods: Acetylcholine (ACh-mediated endothelium-dependent vasodilation and sodium nitroprusside (SNP-mediated endothelium-independent vasodilation were assessed by iontophoresis combined with laser Doppler flowmetry. Microvascular function was compared between 52 patients with advanced CKD (stage 4–5: n = 16; end-stage renal disease: n = 36 and 33 healthy control subjects. As aging has an important effect on microvascular function, both control subjects and CKD patients were divided in subgroups younger and older than 45 years. Linear regression analysis was applied to assess potential associations between microvascular function and various demographic and clinical parameters. Results: There were three main findings. (1 In young patients with advanced CKD, both ACh- and SNP-mediated vasodilations were impaired if compared to young healthy controls (p = 0.04 and p = 0.056, respectively. (2 In young patients with advanced CKD, microvascular function was similar to old healthy controls and elderly patients with advanced CKD. (3 Whereas age was inversely associated with microvascular function in healthy controls (log ACh-mediated vasodilation R = –0.41; p = 0.02 and log SNP-mediated vasodilation R = –0.38; p = 0.03, no such relation was found in patients with advanced CKD. Conclusions: Our results are consistent with premature aging of the microvascular vasodilatory capacity in patients with advanced CKD.

  19. Modifiable causes of premature death in middle-age in Western Europe : Results from the EPIC cohort study

    NARCIS (Netherlands)

    Muller, David C.; Murphy, Neil; Johansson, Mattias; Ferrari, Pietro; Tsilidis, Konstantinos K.; Boutron-Ruault, Marie Christine; Clavel, Francoise; Dartois, Laureen; Li, Kuanrong; Kaaks, Rudolf; Weikert, Cornelia; Bergmann, Manuela; Boeing, Heiner; Tjønneland, Anne; Overvad, Kim; Redondo, M. Luisa; Agudo, Antonio; Molina-Portillo, Elena; Altzibar, Jone M.; Cirera, Lluís; Ardanaz, Eva; Khaw, Kay Tee; Wareham, Nicholas J.; Key, Timothy J.; Travis, Ruth C.; Bamia, Christina; Orfanos, Philippos; Trichopoulou, Antonia; Palli, Domenico; Pala, Valeria; Tumino, Rosario; Vineis, Paolo; Panico, Salvatore; Bueno-de-Mesquita, H. Bas; Verschuren, W. M Monique; Struijk, Ellen A.; Peeters, Petra H.; Engström, Gunnar; Melander, Olle; Sund, Malin; Weiderpass, Elisabete; Skeie, Guri; Lund, Eiliv; Norat, Teresa; Gunter, Marc; Riboli, Elio; Brennan, Paul

    2016-01-01

    Background: Life expectancy is increasing in Europe, yet a substantial proportion of adults still die prematurely before the age of 70 years. We sought to estimate the joint and relative contributions of tobacco smoking, hypertension, obesity, physical inactivity, alcohol and poor diet towards risk

  20. Modifiable causes of premature death in middle-age in Western Europe : results from the EPIC cohort study

    NARCIS (Netherlands)

    Muller, David C.; Murphy, Neil; Johansson, Mattias; Ferrari, Pietro; Tsilidis, Konstantinos K.; Boutron-Ruault, Marie-Christine; Clavel, Francoise; Dartois, Laureen; Li, Kuanrong; Kaaks, Rudolf; Weikert, Cornelia; Bergmann, Manuela; Boeing, Heiner; Tjonneland, Anne; Overvad, Kim; Luisa Redondo, M.; Agudo, Antonio; Molina-Portillo, Elena; Altzibar, Jone M.; Cirera, Lluis; Ardanaz, Eva; Khaw, Kay-Tee; Wareham, Nicholas J.; Key, Timothy J.; Travis, Ruth C.; Bamia, Christina; Orfanos, Philippos; Trichopoulou, Antonia; Palli, Domenico; Pala, Valeria; Tumino, Rosario; Vineis, Paolo; Panico, Salvatore; Bueno-de-Mesquita, H. Bas; Verschuren, W. M. Monique; Struijk, Ellen A.; Peeters, Petra H.; Engstrom, Gunnar; Melander, Olle; Sund, Malin; Weiderpass, Elisabete; Skeie, Guri; Lund, Eiliv; Norat, Teresa; Gunter, Marc; Riboli, Elio; Brennan, Paul

    2016-01-01

    Background: Life expectancy is increasing in Europe, yet a substantial proportion of adults still die prematurely before the age of 70 years. We sought to estimate the joint and relative contributions of tobacco smoking, hypertension, obesity, physical inactivity, alcohol and poor diet towards risk

  1. School performance at nine years of age in very premature and very low birth weight infants : Perinatal risk factors and predictors at five years of age

    NARCIS (Netherlands)

    Hille, E.T.M.; Ouden, A.L. den; Bauer, L.; Oudenrijn, C. van den; Brand, R.; Verloove-Vanhorick, S.P.

    1994-01-01

    To assess the impact of both perinatal disorders and developmental problems identified at preschool age on school performance, we followed a virtually complete birth cohort of very premature (<32 completed weeks of gestation) and very low birth weight infants until they were 9 years of age. In 84% o

  2. Phenotype-Dependent Coexpression Gene Clusters: Application to Normal and Premature Ageing.

    Science.gov (United States)

    Wang, Kun; Das, Avinash; Xiong, Zheng-Mei; Cao, Kan; Hannenhalli, Sridhar

    2015-01-01

    Hutchinson Gilford progeria syndrome (HGPS) is a rare genetic disease with symptoms of aging at a very early age. Its molecular basis is not entirely clear, although profound gene expression changes have been reported, and there are some known and other presumed overlaps with normal aging process. Identification of genes with agingor HGPS-associated expression changes is thus an important problem. However, standard regression approaches are currently unsuitable for this task due to limited sample sizes, thus motivating development of alternative approaches. Here, we report a novel iterative multiple regression approach that leverages co-expressed gene clusters to identify gene clusters whose expression co-varies with age and/or HGPS. We have applied our approach to novel RNA-seq profiles in fibroblast cell cultures at three different cellular ages, both from HGPS patients and normal samples. After establishing the robustness of our approach, we perform a comparative investigation of biological processes underlying normal aging and HGPS. Our results recapitulate previously known processes underlying aging as well as suggest numerous unique processes underlying aging and HGPS. The approach could also be useful in detecting phenotype-dependent co-expression gene clusters in other contexts with limited sample sizes.

  3. Attenuation of Replication Stress–Induced Premature Cellular Senescence to Assess Anti-Aging Modalities

    Science.gov (United States)

    Zhao, Hong; Darzynkiewicz, Zbigniew

    2014-01-01

    Described is an in vitro model of premature senescence in pulmonary adenocarcinoma A549 cells induced by persistent DNA replication stress in response to treatment with the DNA damaging drug mitoxantrone (Mxt). The degree of cellular senescence, based on characteristic changes in cell morphology, is measured by laser scanning cytometry. Specifically, the flattening of cells grown on slides (considered the hallmark of cellular senescence) is measured as the decline in local intensity of DNA-associated DAPI fluorescence (represented by maximal pixels). This change is paralleled by an increase in nuclear area. Thus, the ratio of mean intensity of maximal pixels to nuclear area provides a very sensitive morphometric biomarker for the degree of senescence. This analysis is combined with immunocytochemical detection of senescence markers, such as overexpression of cyclin kinase inhibitors (e.g., p21WAF1) and phosphorylation of ribosomal protein S6 (rpS6), a key marker associated with aging/senescence that is detected using a phospho-specific antibody. These biomarker indices are presented in quantitative terms defined as a senescence index (SI), which is the fraction of the marker in test cultures relative to the same marker in exponentially growing control cultures. This system can be used to evaluate the anti-aging potential of test agents by assessing attenuation of maximal senescence. As an example, the inclusion of berberine, a natural alkaloid with reported anti-aging properties and a long history of use in traditional Chinese medicine, is shown to markedly attenuate the Mxt-induced SI and phosphorylation of rpS6. The multivariate analysis of senescence markers by laser scanning cytometry offers a promising tool to explore the potential anti-aging properties of a variety agents. PMID:24984966

  4. Attenuation of replication stress-induced premature cellular senescence to assess anti-aging modalities.

    Science.gov (United States)

    Zhao, Hong; Darzynkiewicz, Zbigniew

    2014-01-01

    Described is an in vitro model of premature senescence in pulmonary adenocarcinoma A549 cells induced by persistent DNA replication stress in response to treatment with the DNA damaging drug mitoxantrone (Mxt). The degree of cellular senescence, based on characteristic changes in cell morphology, is measured by laser scanning cytometry. Specifically, the flattening of cells grown on slides (considered the hallmark of cellular senescence) is measured as the decline in local intensity of DNA-associated DAPI fluorescence (represented by maximal pixels). This change is paralleled by an increase in nuclear area. Thus, the ratio of mean intensity of maximal pixels to nuclear area provides a very sensitive morphometric biomarker for the degree of senescence. This analysis is combined with immunocytochemical detection of senescence markers, such as overexpression of cyclin kinase inhibitors (e.g., p21(WAF1) ) and phosphorylation of ribosomal protein S6 (rpS6), a key marker associated with aging/senescence that is detected using a phospho-specific antibody. These biomarker indices are presented in quantitative terms defined as a senescence index (SI), which is the fraction of the marker in test cultures relative to the same marker in exponentially growing control cultures. This system can be used to evaluate the anti-aging potential of test agents by assessing attenuation of maximal senescence. As an example, the inclusion of berberine, a natural alkaloid with reported anti-aging properties and a long history of use in traditional Chinese medicine, is shown to markedly attenuate the Mxt-induced SI and phosphorylation of rpS6. The multivariate analysis of senescence markers by laser scanning cytometry offers a promising tool to explore the potential anti-aging properties of a variety agents.

  5. [The relationship between metabolic disorders and small for gestational age with idiopathic premature adrenarche].

    Science.gov (United States)

    Mejorado Molano, Francisco Javier; Andrés Zallo, Laura; Fornos Rodríguez, Marta; Pérez Segura, Pilar; Gavela Pérez, Teresa; Sanz Calvo, María Luisa; Soriano Guillén, Leandro

    2016-11-09

    There is still controversy on the relationship between idiopathic premature adrenarche (IPA) and a history of small for gestational age, as well as the concomitant presence of obesity and other metabolic disturbances. An attempt is made to study these potential associations in a cohort of girls with IPA from our hospital. A descriptive cross-sectional study was conducted that included girls with a diagnosis of IPA from the Paediatric Department of the Fundación Jiménez Díaz (Madrid, Spain) between January 2007 and May 2015. A record was made of family and personal history with perinatal data, as well as anthropometric data and biochemical values at the time of diagnosis. Out of a total of 76 girls with IPA, 2.7% had a history of small for gestational age. When body mass index was analysed according to modified criteria of WHO 2007/Cole 2000, 11.8% were overweight, and 11.8% were obese at diagnosis. Using the criteria set by the Spanish Ministry of Health, 6.6% were overweight and 18.4% obese, with 21.2% of the girls being insulin resistance, and 13.95% having dyslipidaemia. None of them had hypertension. From a comparative analysis between normal and overweight and obesity IPA girls, the latter had significantly higher levels of triglycerides and insulin, a higher HOMA index, and lower levels of HDL cholesterol. IPA girls included in the study do not have a higher prevalence of small for gestational age compared to the general population. Prevalence of overweight and obesity in girls with IPA is not higher than the prevalence in the normal population. Copyright © 2016. Publicado por Elsevier España, S.L.U.

  6. Younger or older parental age and risk of suicidality, premature death, psychiatric illness, and criminality in offspring

    OpenAIRE

    Mok, Pearl; Antonsen, Sussie; Pedersen, Carsten Bøcker; Webb, Roger

    2017-01-01

    BackgroundYounger or older parental age has been linked with a range of adverse offspring endpoints. We investigated associations between parental age and nine adverse offspring outcomes in three correlated domains: (i) Premature death: suicide, unnatural death, natural death; (ii) Psychiatric morbidity: any mental illness, suicide attempt, substance misuse; (iii) Criminality: violent offending, imprisonment, driving whilst intoxicated.MethodsPersons born in Denmark 1966–1996 were followed fr...

  7. Sporadic premature aging in a Japanese monkey: a primate model for progeria.

    Directory of Open Access Journals (Sweden)

    Takao Oishi

    Full Text Available In our institute, we have recently found a child Japanese monkey who is characterized by deep wrinkles of the skin and cataract of bilateral eyes. Numbers of analyses were performed to identify symptoms representing different aspects of aging. In this monkey, the cell cycle of fibroblasts at early passage was significantly extended as compared to a normal control. Moreover, both the appearance of senescent cells and the deficiency in DNA repair were observed. Also, pathological examination showed that this monkey has poikiloderma with superficial telangiectasia, and biochemical assay confirmed that levels of HbA1c and urinary hyaluronan were higher than those of other (child, adult, and aged monkey groups. Of particular interest was that our MRI analysis revealed expansion of the cerebral sulci and lateral ventricles probably due to shrinkage of the cerebral cortex and the hippocampus. In addition, the conduction velocity of a peripheral sensory but not motor nerve was lower than in adult and child monkeys, and as low as in aged monkeys. However, we could not detect any individual-unique mutations of known genes responsible for major progeroid syndromes. The present results indicate that the monkey suffers from a kind of progeria that is not necessarily typical to human progeroid syndromes.

  8. Sporadic premature aging in a Japanese monkey: a primate model for progeria.

    Science.gov (United States)

    Oishi, Takao; Imai, Hiroo; Go, Yasuhiro; Imamura, Masanori; Hirai, Hirohisa; Takada, Masahiko

    2014-01-01

    In our institute, we have recently found a child Japanese monkey who is characterized by deep wrinkles of the skin and cataract of bilateral eyes. Numbers of analyses were performed to identify symptoms representing different aspects of aging. In this monkey, the cell cycle of fibroblasts at early passage was significantly extended as compared to a normal control. Moreover, both the appearance of senescent cells and the deficiency in DNA repair were observed. Also, pathological examination showed that this monkey has poikiloderma with superficial telangiectasia, and biochemical assay confirmed that levels of HbA1c and urinary hyaluronan were higher than those of other (child, adult, and aged) monkey groups. Of particular interest was that our MRI analysis revealed expansion of the cerebral sulci and lateral ventricles probably due to shrinkage of the cerebral cortex and the hippocampus. In addition, the conduction velocity of a peripheral sensory but not motor nerve was lower than in adult and child monkeys, and as low as in aged monkeys. However, we could not detect any individual-unique mutations of known genes responsible for major progeroid syndromes. The present results indicate that the monkey suffers from a kind of progeria that is not necessarily typical to human progeroid syndromes.

  9. Association Between Apnea of Prematurity and Respiratory Distress Syndrome in Late Preterm Infants: An Observational Study

    Directory of Open Access Journals (Sweden)

    François Olivier

    2016-09-01

    Full Text Available AbstractLate preterm infants (34 to 36 weeks’ gestation remain a population at risk for apnea of prematurity (AOP. As infants affected by respiratory distress syndrome (RDS have immature lungs, they might also have immature control of breathing. Our hypothesis is that an association exists between RDS and AOP in late preterm infants.ObjectiveThe primary objective of this study was to assess the association between RDS and AOP in late preterm infants. The secondary objective was to evaluate if an association exists between apparent RDS severity and AOP.MethodsThis retrospective observational study was realized in a tertiary care center between January 2009 and December 2011. Data from late preterm infants who presented an uncomplicated perinatal evolution, excepted for RDS, were reviewed. Information related to AOP and RDS were collected using the medical record. Odds ratios were calculated using a binary logistic regression adjusted for GA and sex.ResultsAmong the 982 included infants 85 (8,6% had an RDS diagnosis, 281 (28,6% had AOP diagnosis and 107 (10,9% were treated with caffeine for AOP. There was a significant association between AOP treated with caffeine and RDS for all infants (OR = 3.3, 95% CI : 2.0 – 5.7. There was no association between AOP and RDS in 34 weeks infants [AOR : 1.6 (95% CI: 0.7 – 3.8] but an association remains for 35 [AOR : 5.7 (95% CI: 2.5 – 13.4] and 36 [OR: 7.8 (95% CI: 3.2 – 19.4] weeks infants. No association was found between apparent RDS severity and AOP regarding mean oxygen administration duration or complications associated with RDS.ConclusionThe association between RDS and AOP in late preterm infants reflects that patients affected by RDS are not only presenting lung immaturity, but also respiratory control immaturity. Special consideration should be given before discontinuing monitoring after RDS resolution in those patients.

  10. Accelerated epigenetic aging in Down syndrome.

    Science.gov (United States)

    Horvath, Steve; Garagnani, Paolo; Bacalini, Maria Giulia; Pirazzini, Chiara; Salvioli, Stefano; Gentilini, Davide; Di Blasio, Anna Maria; Giuliani, Cristina; Tung, Spencer; Vinters, Harry V; Franceschi, Claudio

    2015-06-01

    Down Syndrome (DS) entails an increased risk of many chronic diseases that are typically associated with older age. The clinical manifestations of accelerated aging suggest that trisomy 21 increases the biological age of tissues, but molecular evidence for this hypothesis has been sparse. Here, we utilize a quantitative molecular marker of aging (known as the epigenetic clock) to demonstrate that trisomy 21 significantly increases the age of blood and brain tissue (on average by 6.6 years, P = 7.0 × 10(-14)).

  11. Long-chain saturated and monounsaturated fatty acids associate with development of premature infants up to 18 months of age.

    Science.gov (United States)

    Strandvik, Birgitta; Ntoumani, Eleni; Lundqvist-Persson, Cristina; Sabel, Karl-Göran

    2016-04-01

    Myelination is important perinatally and highly dependent on long-chain saturated and monounsaturated fatty acids. Long-chain polyunsaturated fatty acids, nowadays often supplemented, inhibit oleic acid synthesis. Using data from a premature cohort, we studied if nervonic, lignoceric and oleic acids correlated to growth and early development up to 18 months corrected age. Small for gestational age infants had lower concentrations than infants appropriate for gestational age. Only oleic acid was negatively correlated to long-chain polyunsaturated fatty acids. Oleic and lignoceric acids correlated to social interaction at one month, and nervonic acid to mental, psychomotor and behavioral development at 6, 10 and 18 months, also when adjusted for several confounders. Negative association between oleic acid and long-chain polyunsaturated fatty acids suggests inhibition of delta-9 desaturase, and nervonic acid´s divergent correlation to lignoceric and oleic acids suggests different metabolism in neonatal period. Our results may have implications for the supplementation of premature infants.

  12. Premature Aging-related Peripheral Neuropathy in a Mouse Model of Progeria

    Science.gov (United States)

    Goss, James R.; Stolz, Donna Beer; Robinson, Andria Rasile; Zhang, Mingdi; Arbujas, Norma; Robbins, Paul D.; Glorioso, Joseph C.; Niedernhofer, Laura J.

    2011-01-01

    Peripheral neuropathy is a common aging-related degenerative disorder that interferes with daily activities and leads to increased risk of falls and injury in the elderly. The etiology of most aging-related peripheral neuropathy is unknown. Inherited defects in several genome maintenance mechanisms cause tissue-specific accelerated aging, including neurodegeneration. We tested the hypothesis that a murine model of XFE progeroid syndrome, caused by reduced expression of ERCC1-XPF DNA repair endonuclease, develops peripheral neuropathy. Nerve conduction studies revealed normal nerve function in young adult (8 week) Ercc1−/Δ mice, but significant abnormalities in 20 week-old animals. Morphologic and ultrastructural analysis of the sciatic nerve from mutant mice revealed significant alterations at 20 but not 8 weeks of age. We conclude that Ercc1−/Δ mice have accelerated spontaneous peripheral neurodegeneration that mimics aging-related disease. This provides strong evidence that DNA damage can drive peripheral neuropathy and offers a rapid and novel model to test therapies. PMID:21596054

  13. Premature aging-related peripheral neuropathy in a mouse model of progeria.

    Science.gov (United States)

    Goss, James R; Stolz, Donna Beer; Robinson, Andria Rasile; Zhang, Mingdi; Arbujas, Norma; Robbins, Paul D; Glorioso, Joseph C; Niedernhofer, Laura J

    2011-08-01

    Peripheral neuropathy is a common aging-related degenerative disorder that interferes with daily activities and leads to increased risk of falls and injury in the elderly. The etiology of most aging-related peripheral neuropathy is unknown. Inherited defects in several genome maintenance mechanisms cause tissue-specific accelerated aging, including neurodegeneration. We tested the hypothesis that a murine model of XFE progeroid syndrome, caused by reduced expression of ERCC1-XPF DNA repair endonuclease, develops peripheral neuropathy. Nerve conduction studies revealed normal nerve function in young adult (8 week) Ercc1(-/Δ) mice, but significant abnormalities in 20 week-old animals. Morphologic and ultrastructural analysis of the sciatic nerve from mutant mice revealed significant alterations at 20 but not 8 weeks of age. We conclude that Ercc1(-/Δ) mice have accelerated spontaneous peripheral neurodegeneration that mimics aging-related disease. This provides strong evidence that DNA damage can drive peripheral neuropathy and offers a rapid and novel model to test therapies.

  14. Aging in Rare Intellectual Disability Syndromes

    Science.gov (United States)

    Dykens, Elisabeth M.

    2013-01-01

    This review highlights several methodological challenges involved in research on aging, health, and mortality in adults with rare intellectual disability syndromes. Few studies have been performed in this area, with research obstacles that include: the ascertainment of older adults with genetic versus clinical diagnoses; likelihood that adults…

  15. Aging in Rare Intellectual Disability Syndromes

    Science.gov (United States)

    Dykens, Elisabeth M.

    2013-01-01

    This review highlights several methodological challenges involved in research on aging, health, and mortality in adults with rare intellectual disability syndromes. Few studies have been performed in this area, with research obstacles that include: the ascertainment of older adults with genetic versus clinical diagnoses; likelihood that adults…

  16. Distribution of immunocompetent cells in the lungs of premature newborns on the background of some components of mother metabolic syndrome

    Directory of Open Access Journals (Sweden)

    Rudyak O.M.

    2011-01-01

    Full Text Available In immunohistochemical researching of the local immune system of the lungs (90 premature newborns, 29-33 weeks gestation, divided into 3 groups with respect to the components of mothers metabolic syndrome , the features and patterns of distribution, quantitative indicators of immune cells in the bronchial and respiratory departments are detected. It was determined that children who belong to group №1 (mothers hypertension and dyslipidemia have the total depression of T-lymphocytes (CD3, reduction of helper function (CD4, mixed reaction of suppressors (CD8, decreasing the number of B-lymphocytes - subpopulations (CD20, inhibition of macrophagic function (CD68. In group№2 (mothers diabetes type 2 and dyslipidemia we observed depression of helper-suppressor functions (CD4, CD8, increasing of macrophagic reaction (CD68. Reducing of the absolute number of suppressor and cytotoxic T-lymphocytes subpopulations, a decreasing of B-lymphocytes (CD20 and inhibition of macrophagic functions (CD68 is observed in group№3 of children at the background of mothers adiposity and dyslipidemia. Reducing of expression of CD3 lymphocytes and levels of CD4 cells shows intensive reaction of cellular immunity in premature newborns. Comparative analysis of the immune status of the lungs of children in three groups with different components of mothers metabolic syndrome shows an acute disbalance of immunoregulation index, and the negative impact of mothers disease on histogenetic processes of respiratory organization.

  17. Pneumothorax in premature infants with respiratory distress syndrome: focus on risk factors

    Directory of Open Access Journals (Sweden)

    Sabina Terzic

    2016-02-01

    Full Text Available Introduction: Pneumothorax is a life threatening condition, more often seen in immature infants receiving mechanical ventilation. It carries a significant risk of death and impaired outcome.Objective: To determine predictive factors for the occurrence of pneumothorax in preterm infants with respiratory distress syndrome (RDS.Patients and methods: The present study was conducted in a tertiary research and educational hospital, NICU, Pediatric Clinic UKC Sarajevo, from January 2010 to December 2013. All infants had chest X-ray at admission, and were treated due to RDS with nasal continuous positive airway pressure (CPAP, mechanical ventilation, or high frequency oscillatory ventilation. At admission we registered data regarding birth weight, gestational age, Apgar score, prenatally given steroids. Inclusion criteria were fulfilled by 417 infants. Data about timing, circumstances, side and treatment of pneumothorax were gathered from medical records.Results: Mean birth weight was 1,477 g, mean gestational age 29.6 weeks. We report 98 infants who did not survive. We also report incidence of pneumothorax in 5% of the infants with RDS. In this study pneumothorax and non-pneumothorax groups didn’t differ regarding sex, gestational age (median 29 and 30 nor birth weight (p = 0.818. Apgar score at the 1st and 5th minute of life had no influence in genesis of pulmonary air leak, neither prenatally given steroids (p = 0.639, nor surfactant administration. There was a low coverage of preterm infants with prenatal steroids (overall 28.29%. We found that FiO2 ≥ 0.4 in the first 12 hours of life, and need for mechanical ventilation are predicting factors for developing pneumothorax (p < 0.05.Conclusion: Together with mechanical ventilation, inspired fraction of oxygen higher than 40%, needed to provide adequate oxygenation in the first 12 hours of life in preterm infants, could be a predictive factor in selecting the highest risk babies for development of

  18. The Reasons and Prevention of Ovarian Premature Aging%卵巢早衰的原因与预防

    Institute of Scientific and Technical Information of China (English)

    李莉

    2014-01-01

    Objective To analyze the factors that cause ovarian premature aging so as to provide a basis for clinical prevention and treatment of ovarian premature aging. Methods A questionnaire was used to investigate the 100 cases in the observation group and the control group, and the data was treated by logistic regression analysis. Results 12 variables such as the number of induced abortion, drinking, smoking, marital status, family and social relationship, bean products, mood, taking corticosteroids and so on are related to the occurrence of ovarian premature aging. Multiple factors analysis showed that marital status (OR = 6.03), number of induced abortion (OR = 2.14), smoking (OR =3.26), hair coloring (OR =2.74), mood (OR= 0.16), vegetables (OR = 0.34), mumps (OR = 10.23), and other factors are closely associated with ovarian premature aging. Conclusion Many factors can cause ovarian premature aging, so effective measures should be taken clinically to strengthen the prevention and treatment, thereby reducing the incidence of the disease and promoting the recovery of the patients as early as possible.%目的:分析卵巢早衰发生因素,为临床卵巢早衰的防治提供一定的依据。方法采用问卷调查方式对观察组和健康对照组共100例进行logistic回归分析。结果卵巢早衰发生因素与人工流产次数、饮酒、吸烟、婚姻状况以及家人社会相处关系、豆制品、心情和服用糖皮质激素等12个变量相关。多因素分析表明,婚姻状况(OR=6.03)、人工流产次数(OR=2.14)、吸烟(OR=3.26)、染发(OR=2.74)、心情(OR=0.16)、蔬菜(OR=0.34)、腮腺炎(OR=10.23)等因素与卵巢早衰密切相关。结论卵巢早衰发生因素较多,临床应采取有效的措施加强预防,治疗,以降低发病率,促进患者早日康复。

  19. [Premature rupture of membranes and chorioamnionitis].

    Science.gov (United States)

    Lopez Garcia, R

    1988-01-01

    Despite advances in perinatal medicine in the past decade, the diagnosis and treatment of premature rupture of membranes remain controversial. Premature rupture occurs in 2.7-7.0% of pregnancies and most cases occur spontaneously without apparent cause. The disparity in reported rates of premature rupture is due to differences in the definition and diagnostic criteria for premature rupture and lack of comparability in the populations studied. Mexico's National Institute of Perinatology has adopted the definition of the American COllege of Gynecology and Obstetrics which views premature rupture as that occurring before regular uterine contractions that produce cervical dilation. 8.8% of its patients have premature rupture according to this definition. 20% of cases occur before the 36th week of pregnancy. Treatment of rupture occurring before 37 weeks must balance the threat of amniotic infection with the dangers of premature birth. Infections appear more common in low income patient populations. Chorioamnionitis is a serious complication of pregnancy and is the main argument against conservative treatment of premature rupture. The rate of maternal infection is directly related to the time elapsing between rupture of the membranes and birth. The rate increases after the 1st 24 hours and is at least 10 times higher after 72 hours. But recent studies suggest that there is no considerable increase in infection if vaginal explorations are avoided and careful techniques are used in treating the patient. Those who advise conservative treatment believe that prenatal outcomes are better because respiratory disease syndrome due to prematurity is avoided. Conservative management requires a white cell count at least every 24 hours and measurement of pulse, maternal temperature, and fetal heart rate ideally every 4 hours. Perinatal mortality rates due to premature rupture of membranes range from 2.5-50%. The principal causes are respiratory disease syndrome, infection, asphyxia

  20. Natural History of Aging in Cornelia de Lange Syndrome

    Science.gov (United States)

    KLINE, ANTONIE D.; GRADOS, MARCO; SPONSELLER, PAUL; LEVY, HOWARD P.; BLAGOWIDOW, NATALIE; SCHOEDEL, CHRISTIANNE; RAMPOLLA, JONI; CLEMENS, DOUGLAS K.; KRANTZ, IAN; KIMBALL, AMY; PICHARD, CARMEN; TUCHMAN, DAVID

    2016-01-01

    Observations about the natural history of aging in Cornelia de Lange syndrome (CdLS) are made, based on 49 patients from a multidisciplinary clinic for adolescents and adults. The mean age was 17 years. Although most patients remain small, obesity may develop. Gastroesophageal reflux persists or worsens, and there are early long-term sequelae, including Barrett esophagus in 10%; other gastrointestinal findings include risk for volvulus, rumination, and chronic constipation. Submucous cleft palate was found in 14%, most undetected before our evaluation. Chronic sinusitis was noted in 39%, often with nasal polyps. Blepharitis improves with age; cataracts and detached retina may occur. Decreased bone density is observed, with occasional fractures. One quarter have leg length discrepancy and 39% scoliosis. Most females have delayed or irregular menses but normal gynecologic exams and pap smears. Benign prostatic hypertrophy occurred in one male prior to 40 years. The phenotype is variable, but there is a distinct pattern of facial changes with aging. Premature gray hair is frequent; two patients had cutis verticis gyrata. Behavioral issues and specific psychiatric diagnoses, including self-injury, anxiety, attention-deficit disorder, autistic features, depression, and obsessive-compulsive behavior, often worsen with age. This work presents some evidence for accelerated aging in CdLS. Of 53% with mutation analysis, 55% demonstrate a detectable mutation in NIPBL or SMC1A. Although no specific genotype–phenotype correlations have been firmly established, individuals with missense mutations in NIPBL and SMC1A appear milder than those with other mutations. Based on these observations, recommendations for clinical management of adults with CdLS are made. PMID:17640042

  1. Homeostatic Imbalance between Apoptosis and Cell Renewal in the Liver of Premature Aging XpdTTD Mice

    Science.gov (United States)

    Park, Jung Yoon; Cho, Mi-Ook; Leonard, Shanique; Calder, Brent; Mian, I. Saira; Kim, Woo Ho; Wijnhoven, Susan; van Steeg, Harry; Mitchell, James; van der Horst, Gijsbertus T. J.; Hoeijmakers, Jan; Cohen, Pinchas; Vijg, Jan; Suh, Yousin

    2008-01-01

    Unrepaired or misrepaired DNA damage has been implicated as a causal factor in cancer and aging. XpdTTD mice, harboring defects in nucleotide excision repair and transcription due to a mutation in the Xpd gene (R722W), display severe symptoms of premature aging but have a reduced incidence of cancer. To gain further insight into the molecular basis of the mutant-specific manifestation of age-related phenotypes, we used comparative microarray analysis of young and old female livers to discover gene expression signatures distinguishing XpdTTD mice from their age-matched wild type controls. We found a transcription signature of increased apoptosis in the XpdTTD mice, which was confirmed by in situ immunohistochemical analysis and found to be accompanied by increased proliferation. However, apoptosis rate exceeded the rate of proliferation, resulting in homeostatic imbalance. Interestingly, a metabolic response signature was observed involving decreased energy metabolism and reduced IGF-1 signaling, a major modulator of life span. We conclude that while the increased apoptotic response to endogenous DNA damage contributes to the accelerated aging phenotypes and the reduced cancer incidence observed in the XpdTTD mice, the signature of reduced energy metabolism is likely to reflect a compensatory adjustment to limit the increased genotoxic stress in these mutants. These results support a general model for premature aging in DNA repair deficient mice based on cellular responses to DNA damage that impair normal tissue homeostasis. PMID:18545656

  2. Premature Contractions

    Science.gov (United States)

    ... Peripheral Artery Disease Venous Thromboembolism Aortic Aneurysm More Premature Contractions - PACs and PVCs Updated:Dec 15,2016 ... You felt this more-forceful beat. Types of premature contractions Premature atrial contractions (PACs) start in the ...

  3. The mutational spectrum in Treacher Collins syndrome reveals a predominance of mutations that create a premature-termination codon

    Energy Technology Data Exchange (ETDEWEB)

    Edwards, S.J.; Gladwin, A.J.; Dixon, M.J. [Univ. of Manchester (United Kingdom)

    1997-03-01

    Treacher Collins syndrome (TCS) is an autosomal dominant disorder of craniofacial development, the features of which include conductive hearing loss and cleft palate. The TCS locus has been mapped to human chromosome 5q31.3-32 and the mutated gene identified. In the current investigation, 25 previously undescribed mutations, which are spread throughout the gene, are presented. This brings the total reported to date to 35, which represents a detection rate of 60%. Of the mutations that have been reported to date, all but one result in the introduction of a premature-termination codon into the predicted protein, treacle. Moreover, the mutations are largely family specific, although a common 5-bp deletion in exon 24 (seven different families) and a recurrent splicing mutation in intron 3 (two different families) have been identified. This mutational spectrum supports the hypothesis that TCS results from haploin-sufficiency. 49 refs., 4 figs., 3 tabs.

  4. Attenuation of Replication Stress–Induced Premature Cellular Senescence to Assess Anti-Aging Modalities

    OpenAIRE

    Zhao, Hong; Darzynkiewicz, Zbigniew

    2014-01-01

    Described is an in vitro model of premature senescence in pulmonary adenocarcinoma A549 cells induced by persistent DNA replication stress in response to treatment with the DNA damaging drug mitoxantrone (Mxt). The degree of cellular senescence, based on characteristic changes in cell morphology, is measured by laser scanning cytometry. Specifically, the flattening of cells grown on slides (considered the hallmark of cellular senescence) is measured as the decline in local intensity of DNA-as...

  5. A model of premature aging in mice based on altered stress-related behavioral response and immunosenescence.

    Science.gov (United States)

    Viveros, María-Paz; Arranz, Lorena; Hernanz, Angel; Miquel, Jaime; De la Fuente, Mónica

    2007-01-01

    The intensity of behavioral and neuroendocrine responses to stressful stimuli in rodent strains seems to be inversely related to their life span. We have previously shown that interindividual differences in members of outbred Swiss and inbred BALB/c mouse populations, both male and female, may be related to their behavior in a simple T-maze test. The animals that explore the maze slowly show impaired neuromuscular vigor and coordination, decreased locomotor activity, increased level of emotionality/anxiety, decreased levels of brain biogenic amines as well as immunosenescence and decreased life span, when compared to their control counterparts, which quickly explore the maze. These traits are similar to some of the alterations previously observed in aging animals and therefore we proposed that those 'slow mice' are biologically older than the fast animals and may be a model of prematurely aging mice (PAM). Although most of our work on this model has been performed on chronologically adult-mature animals, we have also shown that certain characteristics of PAM, such as increased anxiety and deficient immune response, are already present in chronologically young animals. Thus, it is tempting to hypothesize that chronic hyperreactivity to stress (trait anxiety) leading to immune dysfunction may have a causal relationship with impaired health and premature aging. In view of the link between oxidative stress and the aging process, the redox state of peritoneal leukocytes from PAM has been studied, showing an oxidative stress situation. In the present work we have determined the levels of a key antioxidant, reduced glutathione (GSH), and the oxidant malondialdehyde (MDA), a marker of lipid peroxidation, both in the spleen and brain of male and female PAM and non-PAM (NPAM). We found that GSH and MDA are decreased and increased, respectively, in PAM with respect to NPAM. Moreover, diet supplementation with antioxidants showed to be an effective strategy for protection

  6. Treatment with exogenous surfactant stimulates endogenous surfactant synthesis in premature infants with respiratory distress syndrome

    NARCIS (Netherlands)

    Bunt, JEH; Carnielli, VP; Janssen, DJ; Wattimena, JLD; Hop, WC; Sauer, PJ; Zimmermann, LJI

    2000-01-01

    Objective: Treatment of preterm infants with respiratory distress syndrome (RDS) with exogenous surfactant has greatly improved clinical outcome. Some infants require multiple doses, and it has not been studied whether these large amounts of exogenous surfactant disturb endogenous surfactant metabol

  7. Premature lung aging and cellular senescence in the pathogenesis of idiopathic pulmonary fibrosis and COPD/emphysema.

    Science.gov (United States)

    Chilosi, Marco; Carloni, Angelo; Rossi, Andrea; Poletti, Venerino

    2013-09-01

    Different anatomic and physiological changes occur in the lung of aging people that can affect pulmonary functions, and different pulmonary diseases, including deadly diseases such as chronic obstructive pulmonary disease (COPD)/emphysema and idiopathic pulmonary fibrosis (IPF), can be related to an acceleration of the aging process. The individual genetic background, as well as exposure to a variety of toxic substances (cigarette smoke in primis) can contribute significantly to accelerating pulmonary senescence. Premature aging can impair lung function by different ways: by interfering specifically with tissue repair mechanisms after damage, thus perturbing the correct crosstalk between mesenchymal and epithelial components; by inducing systemic and/or local alteration of the immune system, thus impairing the complex mechanisms of lung defense against infections; and by stimulating a local and/or systemic inflammatory condition (inflammaging). According to recently proposed pathogenic models in COPD and IPF, premature cellular senescence likely affects distinct progenitors cells (mesenchymal stem cells in COPD, alveolar epithelial precursors in IPF), leading to stem cell exhaustion. In this review, the large amount of data supporting this pathogenic view are discussed, with emphasis on the possible molecular and cellular mechanisms leading to the severe parenchymal remodeling that characterizes, in different ways, these deadly diseases.

  8. Premature infant

    Science.gov (United States)

    There are many support groups for parents of premature babies. Ask the social worker in the neonatal intensive care unit. ... Prematurity used to be a major cause of infant deaths. Improved ... Prematurity can have long-term effects. Many premature infants ...

  9. Patch-based augmentation of Expectation-Maximization for brain MRI tissue segmentation at arbitrary age after premature birth.

    Science.gov (United States)

    Liu, Mengyuan; Kitsch, Averi; Miller, Steven; Chau, Vann; Poskitt, Kenneth; Rousseau, Francois; Shaw, Dennis; Studholme, Colin

    2016-02-15

    Accurate automated tissue segmentation of premature neonatal magnetic resonance images is a crucial task for quantification of brain injury and its impact on early postnatal growth and later cognitive development. In such studies it is common for scans to be acquired shortly after birth or later during the hospital stay and therefore occur at arbitrary gestational ages during a period of rapid developmental change. It is important to be able to segment any of these scans with comparable accuracy. Previous work on brain tissue segmentation in premature neonates has focused on segmentation at specific ages. Here we look at solving the more general problem using adaptations of age specific atlas based methods and evaluate this using a unique manually traced database of high resolution images spanning 20 gestational weeks of development. We examine the complimentary strengths of age specific atlas-based Expectation-Maximization approaches and patch-based methods for this problem and explore the development of two new hybrid techniques, patch-based augmentation of Expectation-Maximization with weighted fusion and a spatial variability constrained patch search. The former approach seeks to combine the advantages of both atlas- and patch-based methods by learning from the performance of the two techniques across the brain anatomy at different developmental ages, while the latter technique aims to use anatomical variability maps learnt from atlas training data to locally constrain the patch-based search range. The proposed approaches were evaluated using leave-one-out cross-validation. Compared with the conventional age specific atlas-based segmentation and direct patch based segmentation, both new approaches demonstrate improved accuracy in the automated labeling of cortical gray matter, white matter, ventricles and sulcal cortical-spinal fluid regions, while maintaining comparable results in deep gray matter.

  10. Premature Ovarian Failure Syndrome May Be Induced by Autoimmune Reactions to Zona Pellucida Proteins

    Directory of Open Access Journals (Sweden)

    Koyama K

    2006-01-01

    Full Text Available Autoimmunity is thought to be involved in pathogenesis of the premature ovarian failure (POF causing infertility. The zona pellucida (ZP, an extracellular matrix surrounding the oocyte, is considered to be pathogenic among autoantigens, because many contraceptive vaccine research has shown that anti-ZP antibodies impair ovarian function in animal experiments. In this article we describe the importance of ZP in oocyte growth and the possible effects of anti-ZP antibodies on ovarian failure. Clinical experiments were conducted to detect anti-ZP antibodies in POF patients by dot immunoassay and immunofluorescent staining method. Also, as an animal model experiment, we examined whether or not peptide ZP antigens of same-species amino acid sequences could produce autoantibodies reactive to ZP. The results showed that antibodies were produced by immunisation with the antigens and histological examination revealed that the number of growing follicles was considerably reduced. These results conclusively indicated that self-ZP protein is a possible pathogenic antigen for autoimmunity causing POF.

  11. Premature Birth and Large for Gestational Age Are Associated with Risk of Barrett’s Esophagus in Adults

    Science.gov (United States)

    Shiota, Seiji; El-Serag, Hashem B.; Thrift, Aaron P.

    2015-01-01

    Background Birth characteristics, including weight and gestational age, may be associated with risk of Barrett’s esophagus (BE), the only known precursor for esophageal adenocarcinoma; however, data are limited. Aims To examine associations between various birth characteristics and BE, and whether these associations are mediated by known risk factors for BE. Methods Data were obtained from a cross-sectional study among eligible Veterans Affairs patients scheduled for an upper endoscopy, and a sample identified from primary care clinics. Participants underwent an esophagogastroduodenoscopy and completed a survey that captured information on sociodemographic and clinical factors, as well as birth information. We compared 263 patients with histologically confirmed BE to 1,416 controls without BE on endoscopy. Odds ratios (ORs) and 95 % confidence intervals (CIs) were calculated using multivariate logistic regression. Results Premature birth was independently associated with risk of BE after adjusted by age, sex, race, and other birth characteristics (OR 3.28, 95% CI 1.22–8.79). On the other hand, large for gestational age was inversely associated with risk of BE (OR 0.46, 95% CI 0.21–0.98). These effects were stronger for patients with long-segment BE than short-segment BE. The associations were not mediated by gastroesophageal reflux disease symptoms, use of proton pump inhibitors, Helicobacter Pylori infection, waist-hip-ratio, height or presence of hiatus hernia. Conclusions Premature birth and large for gestational age may be associated with risk of BE in adults. These associations do not appear to be mediated through known risk factors for BE; however, additional studies are required to confirm our findings. PMID:26611860

  12. Antenatal betamethasone and fetal growth in prematurely born children: implications for temperament traits at the age of 2 years.

    Science.gov (United States)

    Pesonen, Anu-Katriina; Räikkönen, Katri; Lano, Aulikki; Peltoniemi, Outi; Hallman, Mikko; Kari, M Anneli

    2009-01-01

    We explored whether repeated dose of antenatal betamethasone and variation in intrauterine growth of prematurely born children predict temperament characteristics at the age of 2 years. The patients (n = 142) were prematurely born children (mean gestational age: 31.0 weeks; range: 24.6-35.0 weeks) who participated in a randomized and blinded trial testing the effects of a repeated dose of antenatal betamethasone in imminent preterm birth. Fetal growth was estimated as weight, length, and head circumference in SDs according to Finnish growth charts. Parents assessed their toddlers' temperament with 201 items of the Early Childhood Temperament Questionnaire (mean child corrected age: 2.1 years). No significant main effects of repeated betamethasone on toddler temperament existed. However, a significant interaction between study group and duration of exposure to betamethasone emerged; those exposed to a repeated dose for >24 hours before delivery were more impulsive. One-SD increases in weight, length, and head circumference at birth were associated with 0.14- to 0.19-SD lower levels of negative affectivity (fearfulness, anger proneness, and sadness); 1-SD increases in length, weight, and head circumference at birth were associated with 0.14- to 0.18-SD higher levels of effortful control (self-regulation). Repeated antenatal betamethasone did not induce alterations in toddler temperament. The results, however, suggest that a longer duration of exposure is associated with higher impulsivity scores. Regardless of betamethasone exposure, slower fetal growth exerted influences on temperament. Our findings indicate prenatal programming of psychological development and imply that more attention is needed to support the development of infants born at the lower end of the fetal growth distribution.

  13. Premature ejaculation

    Science.gov (United States)

    ... this page: //medlineplus.gov/ency/article/001524.htm Premature ejaculation To use the sharing features on this page, please enable JavaScript. Premature ejaculation is when a man has an orgasm ...

  14. Acute coronary syndromes: an old age problem

    Institute of Scientific and Technical Information of China (English)

    Alexander D Simms; Philip D Batin; John Kurian; Nigel Durham; Christopher P Gale

    2012-01-01

    The increasing population in older age will lead to greater numbers of them presenting with acute coronary syndromes (ACS). This has implications on global healthcare resources and necessitates better management and selection for evidenced-based therapies. The elderly are a high risk group with more significant treatment benefits than younger ACS. Nevertheless, age related inequalities in ACS care are recognised and persist. This discrepancy in care, to some extent, is explained by the higher frequency of atypical and delayed presentations in the elderly, and less diagnostic electrocardiograms at presentation, potentiating a delay in ACS diagnosis. Under estimation of mortality risk in the elderly due to limited consideration for physiological frailty, co-morbidity, cognitive/psychological impairment and physical disability, less input by cardiology specialists and lack of randomised, controlled trials data to guide management in the elderly may further confound the inequality of care. While these inequalities exist, there remains a substantial opportunity to improve age related ACS outcomes. The selection of elderly patients for specific therapies and medication regimens are unanswered. There is a growing need for randomised, controlled trial data to be more representative of the population and enroll those of advanced age with co-morbidity. A lack of reporting of adverse events, such as renal impairment post coronary angiography, in the elderly further limit risk benefit decisions. Substantial improvements in care of elderly ACS patients are required and should be advocated. Ultimately, these improvements are likely to lead to better outcomes post ACS. However, the improvement in outcome is not infinite and will be limited by non-modifiable factors of age-related risk.

  15. The role of surfactant and non-invasive mechanical ventilation in early management of respiratory distress syndrome in premature infants

    Institute of Scientific and Technical Information of China (English)

    Narayan Prabhu Iyer; Maroun Jean Mhanna

    2014-01-01

    Background: Surfactant replacement therapy has been used for few decades for the treatment of respiratory distress syndrome (RDS) and has significantly improved morbidity and mortality in premature infants. Non-invasive respiratory support has recently emerged as a strategy in the early management of RDS. In this review, we discuss the different strategies of early management of RDS. Data sources: A literature search of PubMed database was conducted to review the subject. The quality of evidence of key clinical studies was graded according to a modified grading system of the international GRADE group. Results: Continuous positive airway pressure (CPAP) with selective surfactant is a safe alternative to routine intubation, surfactant and mechanical ventilation in preterm infants with spontaneous breathing, and such an approach has been associated with decreased risk of death and bronchopulmonary dysplasia. There is a risk of pneumothorax when using a high pressure of CPAP (≥8 cm of H2O), a high partial pressure of carbon dioxide (PCO2 >75 mm of Hg), and a high fraction of inspired oxygen (FiO2 >0.6) as a threshold for intubation while on CPAP. Conclusion: Not all preterm infants need surfactant treatment, and non-invasive respiratory support is a safe and effective approach.

  16. Metformin Alleviates Aging Cellular Phenotypes in Hutchinson-Gilford Progeria Syndrome Dermal Fibroblasts.

    Science.gov (United States)

    Park, Seul-Ki; Shin, Ok Sarah

    2017-02-13

    Metformin is a popular antidiabetic biguanide, which has been considered as a candidate drug for cancer treatment and aging prevention. Hutchinson-Gilford progeria syndrome (HGPS) is a devastating disease characterized by premature aging and severe age-associated complications leading to death. The effects of metformin on HGPS dermal fibroblasts remain largely undefined. In this study, we investigated whether metformin could exert a beneficial effect on nuclear abnormalities and delay senescence in fibroblasts derived from HGPS patients. Metformin treatment partially restored normal nuclear phenotypes, delayed senescence, activated the phosphorylation of AMP-activated protein kinase, and decreased reactive oxygen species formation in HGPS dermal fibroblasts. Interestingly, metformin reduced the number of phosphorylated histone variant H2AX-positive DNA damage foci and suppressed progerin protein expression, compared to the control. Furthermore, metformin-supplemented aged mice showed higher splenocyte proliferation and mRNA expression of the antioxidant enzyme, superoxide dismutase 2 than the control mice. Collectively, our results show that metformin treatment alleviates the nuclear defects and premature aging phenotypes in HGPS fibroblasts. Thus, metformin can be considered a promising therapeutic approach for life extension in HGPS. This article is protected by copyright. All rights reserved.

  17. Analysis on effects of fetal age and birth weight on prognosis of premature infants%胎龄和出生体重对早产儿预后影响分析

    Institute of Scientific and Technical Information of China (English)

    卫雅蓉; 章恒; 许兵

    2011-01-01

    目的:探讨胎龄及出生体重对早产儿预后的影响.方法:回顾性分析无锡市妇幼保健院2008年1月~2009年12月间分娩的217例早产儿资料.结果:早产儿并发症的发生率和死亡率分别为43.8%和2.3%.早产儿并发症和死亡主要发生于胎龄<32周或出生体重<1 500 g的极低体重儿.缺氧缺血性脑病、窒息、呼吸窘迫综合症发生率和死亡率随胎龄或出生体重增加均呈下降趋势.结论:出生前加强孕期保健,尽可能延长胎龄,促进肺成熟;出生后防止早产儿窒息和加强低出生体重儿监护,将降低早产儿并发症发生率和死亡率.%Objective: To explore the effects of fetal age and birth weight on prognosis of premature infants. Methods: The clinical data of 217 premature infants born in the hospital from January 2008 to December 2009 were analyzed retrospectively. Results: The incidence of complication and mortality of premature infants were 43.8% and 2. 3%, respectively; the premature infants less than 32 gestational weeks or birth weight < 1 500 g had high incidence of complication and high mortality; the incidences of complications ( including hypoxic ischemic encephalopathy, asphyxia and respiratory distress syndrome) and mortality of premature infants showed a decreasing trend with fetal age and the increase of birth weight. Conclusion: Enhancing pregnant health care before delivery, prolonging fetal age as far as possible,promoting fetal lung maturity, preventing neonatal asphyxia and strengthening the monitoring on low birth weight infants may reduce the incidence of complication and mortality of premature infants.

  18. Correlation of serum KL-6 and CC16 levels with neurodevelopmental outcome in premature infants at 12 months corrected age

    Science.gov (United States)

    Zhang, Zhiqun; Lu, Hui; Zhu, Yunxia; Xiang, Junhua; Huang, Xianmei

    2015-01-01

    The aim of this study was to evaluate KL-6 and CC16 levels and their correlation with neurodevelopmental outcome among very low birth weight pre-term infants at 12 months corrected age. This prospective cohort study was performed from 2011 to 2013 by enrolling pre-term neonates of gestational age ≤ 32 weeks and birth weight ≤ 1500 g. Serum KL-6 and CC16 levels were determined 7 days after birth and their correlation with neurodevelopment was evaluated using Gesell Mental Developmental Scales. Of the 86 eligible pre-term infants, 63 completed follow-up, of which 15 had bronchopulmonary dysplasia. At 12 months corrected age, 49 infants had favorable outcomes and 14 infants had poor neurodevelopmental outcome. KL-6 levels were higher and CC16 levels were lower in infants with poor neurodevelopmental outcome compared with those infants who had favourable neurodevelopmental outcome. Serum KL-6 levels less than 90.0 ng/ml and CC16 levels greater than 320.0 pg/ml at 7 days of life were found to be predictive of a favourable outcome at 12 months corrected age. These biological markers could predict neurodevelopmental outcome at 12 months corrected age in very low birth weight premature infants, and help the clinician plan early therapeutic interventions to minimize or avoid poor neurodevelopmental outcome. PMID:25631862

  19. Low birthweight and premature birth are both associated with type 2 diabetes in a random sample of middle-aged Danes.

    Science.gov (United States)

    Pilgaard, K; Færch, K; Carstensen, B; Poulsen, P; Pisinger, C; Pedersen, O; Witte, D R; Hansen, T; Jørgensen, T; Vaag, A

    2010-12-01

    We studied the associations of size at birth and prematurity with type 2 diabetes, insulin sensitivity and beta cell function in the Danish population-based Inter99 study (ClinicalTrials.gov NCT00289237). Information about size at birth and prematurity was identified from original midwife records in 4,744 middle-aged Danes. Type 2 diabetes status, insulin sensitivity (Matsuda index) and beta cell function (disposition index) were assessed using a 75 g oral glucose tolerance test. Participants born prematurely were compared with a group of at-term participants born small for gestational age. An increase in birthweight of 1 kg was associated with a 51% (OR 0.49, 95% CI 0.35-0.69) reduced risk of type 2 diabetes. Ponderal index, reflecting thinness at birth, was associated with type 2 diabetes to the same extent as birthweight. The prevalence of type 2 diabetes was increased to a similar degree in participants born prematurely and participants born small for gestational age, although the former had a higher ponderal index at birth. In addition, birthweight z-scores, reflecting fetal growth rate, were unrelated to the risk of type 2 diabetes and to other measures of glucose regulation in participants born prematurely. While low birthweight was inversely associated with insulin sensitivity and beta cell function, prematurity was associated solely with decreased insulin sensitivity. While the association between birthweight and risk of type 2 diabetes is mediated via combined effects on beta cell function and insulin sensitivity, prematurity seems to influence risk of type 2 diabetes via attenuated insulin sensitivity only and independently of fetal growth rates.

  20. Molecular Clues to Physiological and Premature Ageing Revealed | Center for Cancer Research

    Science.gov (United States)

    There are many theories about the molecular basis of ageing. One of the most popular ones postulates that organisms age by accumulating damage to their tissues, cells, and molecules. On the cellular level, ageing is associated with progressive changes in chromatin (a combination of DNA and proteins that makes up chromosomes). These changes include loss of chromatin structure, loss and/or modification of essential proteins, and accumulation of DNA damage.

  1. Atherosclerosis in ancient humans, accelerated aging syndromes and normal aging: is lamin a protein a common link?

    Science.gov (United States)

    Miyamoto, Michael I; Djabali, Karima; Gordon, Leslie B

    2014-06-01

    Imaging studies of ancient human mummies have demonstrated the presence of vascular calcification that is consistent with the presence of atherosclerosis. These findings have stimulated interest in the underlying biological processes that might impart to humans an inherent predisposition to the development of atherosclerosis. Clues to these processes may possibly be found in accelerated aging syndromes, such as Hutchinson-Gilford progeria syndrome (HGPS), an ultra-rare disorder characterized by premature aging phenotypes, including very aggressive forms of atherosclerosis, occurring in childhood. The genetic defect in HGPS eventuates in the production of a mutant form of the nuclear structural protein lamin A, called progerin, which is thought to interfere with normal nuclear functioning. Progerin appears to be expressed in vascular cells, resulting in vessel wall cell loss and replacement by fibrous tissue, reducing vessel compliance and promoting calcification, leading to the vascular dysfunction and atherosclerosis seen in HGPS. Interestingly, vascular progerin is detectable in lower levels, in an age-related manner, in the general population, providing the basis for further study of the potential role of abnormal forms of lamin A in the atherosclerotic process of normal aging.

  2. Rapamycin activates autophagy in Hutchinson-Gilford progeria syndrome: implications for normal aging and age-dependent neurodegenerative disorders.

    Science.gov (United States)

    Graziotto, John J; Cao, Kan; Collins, Francis S; Krainc, Dimitri

    2012-01-01

    While rapamycin has been in use for years in transplant patients as an antirejection drug, more recently it has shown promise in treating diseases of aging, such as neurodegenerative disorders and atherosclerosis. We recently reported that rapamycin reverses the cellular phenotype of fibroblasts from children with the premature aging disease Hutchinson-Gilford progeria syndrome (HGPS). We found that the causative aberrant protein, progerin, was cleared through autophagic mechanisms when the cells were treated with rapamycin, suggesting a new potential treatment for HGPS. Recent evidence shows that progerin is also present in aged tissues of healthy individuals, suggesting that progerin may contribute to physiological aging. While it is intriguing to speculate that rapamycin may affect normal aging in humans, as it does in lower organisms, it will be important to identify safer analogues of rapamycin for chronic treatments in humans in order to minimize toxicity. In addition to its role in HGPS and normal aging, we discuss the potential of rapamycin for the treatment of age-dependent neurodegenerative diseases.

  3. SU5416 induces premature senescence in endothelial progenitor cells from patients with age-related macular degeneration

    Science.gov (United States)

    Berna, Marc J.; Kunst, Frank; Wege, Henning; Strunnikova, Natalya V.; Gordiyenko, Natalya; Grierson, Rebecca; Richard, Gisbert; Csaky, Karl G.

    2011-01-01

    Purpose We recently demonstrated increased frequency and growth potential of late outgrowth endothelial progenitor cells (OECs) in patients with neovascular age-related macular degeneration (nvAMD). This study investigated the effects of short- and long-term in vitro inhibition of vascular endothelial growth factor (VEGF) Receptor-2 (VEGFR-2) signaling by SU5416 and other inhibitors of the VEGF signaling pathway in OECs. Methods OECs, from the peripheral blood of patients with nvAMD, and human umbilical vein endothelial cells were grown in the presence of SU5416, other VEGFR-2 tyrosine kinase inhibitors (TKIs), and inhibitors of phosphatidylinositol 3′-Kinase (PI3K)/protein kinase B (Akt) and protein kinase C (PKC) in complete angiogenic medium. Apotosis was assessed after 48 h using the fluorescein isothiocyanate Annexin V method. Cell counts were performed for 10 days, and features of senescence were analyzed using senescence-associated β-galactosidase staining, the telomeric repeat amplification protocol for telomerase activity, Southern blot analysis for mean telomere length, flow cytometric analysis for cell-cycle arrest, and western blot for p53 and p21. Control OECs, cells treated for 7 days with inhibitors, as well as naturally senescent OECs were analyzed for expression of different endothelial antigens, including VEGFR-2 and the receptor for stromal cell-derived factor 1, chemokine receptor 4 (CXCR-4). Migration in vitro to VEGF and stromal cell-derived factor 1 of OECs was assessed. Results SU5416, other VEGFR-2 TKIs, and inhibitors of PI3K, Akt, and PKC induced apoptosis, inhibited long-term proliferation, reduced telomerase activity, and induced premature senescence and cell-cycle arrest in OECs as well as in human umbilical vein endothelial cells. Naturally senescent cells and cells rendered senescent by VEGFR-2 TKIs had reduced VEGFR-2 and CXCR-4 expression and demonstrated reduced migratory ability to VEGF. Conclusions This study demonstrates

  4. Development of the Corticospinal and Callosal Tracts from Extremely Premature Birth up to 2 Years of Age.

    Science.gov (United States)

    Braga, Rodrigo M; Roze, Elise; Ball, Gareth; Merchant, Nazakat; Tusor, Nora; Arichi, Tomoki; Edwards, David; Rueckert, Daniel; Counsell, Serena J

    2015-01-01

    White matter tracts mature asymmetrically during development, and this development can be studied using diffusion magnetic resonance imaging. The aims of this study were i. to generate dynamic population-averaged white matter registration templates covering in detail the period from 25 weeks gestational age to term, and extending to 2 years of age based on DTI and fractional anisotropy, ii. to produce tract-specific probability maps of the corticospinal tracts, forceps major and forceps minor using probabilistic tractography, and iii. to assess the development of these tracts throughout this critical period of neurodevelopment. We found evidence for asymmetric development across the fiber bundles studied, with the corticospinal tracts showing earlier maturation (as measured by fractional anisotropy) but slower volumetric growth compared to the callosal fibers. We also found evidence for an anterior to posterior gradient in white matter microstructure development (as measured by mean diffusivity) in the callosal fibers, with the posterior forceps major developing at a faster rate than the anterior forceps minor in this age range. Finally, we report a protocol for delineating callosal and corticospinal fibers in extremely premature cohorts, and make available population-averaged registration templates and a probabilistic tract atlas which we hope will be useful for future neonatal and infant white-matter imaging studies.

  5. Drosophila Clock Is Required in Brain Pacemaker Neurons to Prevent Premature Locomotor Aging Independently of Its Circadian Function.

    Directory of Open Access Journals (Sweden)

    Alexandra Vaccaro

    2017-01-01

    Full Text Available Circadian clocks control many self-sustained rhythms in physiology and behavior with approximately 24-hour periodicity. In many organisms, oxidative stress and aging negatively impact the circadian system and sleep. Conversely, loss of the clock decreases resistance to oxidative stress, and may reduce lifespan and speed up brain aging and neurodegeneration. Here we examined the effects of clock disruptions on locomotor aging and longevity in Drosophila. We found that lifespan was similarly reduced in three arrhythmic mutants (ClkAR, cyc0 and tim0 and in wild-type flies under constant light, which stops the clock. In contrast, ClkAR mutants showed significantly faster age-related locomotor deficits (as monitored by startle-induced climbing than cyc0 and tim0, or than control flies under constant light. Reactive oxygen species accumulated more with age in ClkAR mutant brains, but this did not appear to contribute to the accelerated locomotor decline of the mutant. Clk, but not Cyc, inactivation by RNA interference in the pigment-dispersing factor (PDF-expressing central pacemaker neurons led to similar loss of climbing performance as ClkAR. Conversely, restoring Clk function in these cells was sufficient to rescue the ClkAR locomotor phenotype, independently of behavioral rhythmicity. Accelerated locomotor decline of the ClkAR mutant required expression of the PDF receptor and correlated to an apparent loss of dopaminergic neurons in the posterior protocerebral lateral 1 (PPL1 clusters. This neuronal loss was rescued when the ClkAR mutation was placed in an apoptosis-deficient background. Impairing dopamine synthesis in a single pair of PPL1 neurons that innervate the mushroom bodies accelerated locomotor decline in otherwise wild-type flies. Our results therefore reveal a novel circadian-independent requirement for Clk in brain circadian neurons to maintain a subset of dopaminergic cells and avoid premature locomotor aging in Drosophila.

  6. Drosophila Clock Is Required in Brain Pacemaker Neurons to Prevent Premature Locomotor Aging Independently of Its Circadian Function

    Science.gov (United States)

    Issa, Abdul-Raouf; Seugnet, Laurent; Klarsfeld, André

    2017-01-01

    Circadian clocks control many self-sustained rhythms in physiology and behavior with approximately 24-hour periodicity. In many organisms, oxidative stress and aging negatively impact the circadian system and sleep. Conversely, loss of the clock decreases resistance to oxidative stress, and may reduce lifespan and speed up brain aging and neurodegeneration. Here we examined the effects of clock disruptions on locomotor aging and longevity in Drosophila. We found that lifespan was similarly reduced in three arrhythmic mutants (ClkAR, cyc0 and tim0) and in wild-type flies under constant light, which stops the clock. In contrast, ClkAR mutants showed significantly faster age-related locomotor deficits (as monitored by startle-induced climbing) than cyc0 and tim0, or than control flies under constant light. Reactive oxygen species accumulated more with age in ClkAR mutant brains, but this did not appear to contribute to the accelerated locomotor decline of the mutant. Clk, but not Cyc, inactivation by RNA interference in the pigment-dispersing factor (PDF)-expressing central pacemaker neurons led to similar loss of climbing performance as ClkAR. Conversely, restoring Clk function in these cells was sufficient to rescue the ClkAR locomotor phenotype, independently of behavioral rhythmicity. Accelerated locomotor decline of the ClkAR mutant required expression of the PDF receptor and correlated to an apparent loss of dopaminergic neurons in the posterior protocerebral lateral 1 (PPL1) clusters. This neuronal loss was rescued when the ClkAR mutation was placed in an apoptosis-deficient background. Impairing dopamine synthesis in a single pair of PPL1 neurons that innervate the mushroom bodies accelerated locomotor decline in otherwise wild-type flies. Our results therefore reveal a novel circadian-independent requirement for Clk in brain circadian neurons to maintain a subset of dopaminergic cells and avoid premature locomotor aging in Drosophila. PMID:28072817

  7. [Development deficit risks in the late premature newborn: Evaluation at 48 months using the Ages & Stages Questionnaires®].

    Science.gov (United States)

    Demestre, X; Schonhaut, L; Morillas, J; Martínez-Nadal, S; Vila, C; Raspall, F; Sala, P

    2016-01-01

    Lack of specific monitoring protocols hinders the knowledge of the impact of late prematurity on delayed psychomotor development. The objective of this study is to evaluate this at 48 months and compare it with those born at term. A retrospective cohort study was conducted on 90 late preterm (PT) and 89 term (AT) healthy children at 48 months, assessed by the Ages & Stages Questionnaires® (ASQ-3). Continuous variables described using mean and standard deviation compared with the t Student t test for independent samples. The categorical variables were described as frequencies and proportions, compared with the Chi-square test of independence. A cut-off was determined for the total score of ASQ-3 able to discriminate the risk of developmental deficit by a ROC analysis. A step-wise logistic regression model identified the associated risk factors. The mean scores for each domain and overall ASQ-3 score showed no differences between groups. However, when analyzing the probability density for the ASQ-3 total score of ≤251 points, 15 PT (16.6%) and 4 AT (4.5%) showed risk of psychomotor deficits, and late prematurity and lack of breastfeeding were significantly associated factors. There is an increased prevalence of risk of development deficit in the PT, which justifies considering this population at risk and establishing effective monitoring programs. It should be further investigated whether this risk corresponds to the entire population, or if there are biological factors or perinatal history that makes them more vulnerable. Copyright © 2015 Asociación Española de Pediatría. Published by Elsevier España, S.L.U. All rights reserved.

  8. Apnea of Prematurity (For Parents)

    Science.gov (United States)

    ... other babies. The apnea of prematurity does not cause brain damage. A healthy baby who is apnea free for a week will probably never have AOP again. Although sudden infant death syndrome (SIDS) does happen more often in premature infants, no relationship between AOP and SIDS has ...

  9. No support for premature central nervous system aging in HIV-1 when measured by cerebrospinal fluid phosphorylated tau (p-tau)

    OpenAIRE

    Krut, J. J.; Price, R W; Zetterberg, H; Fuchs, D.; Hagberg, L.; YILMAZ, A.; Cinque, P.; Nilsson, S; Gisslén, M.

    2016-01-01

    BACKGROUND: The prevalence of neurocognitive deficits are reported to be high in HIV-1 positive patients, even with suppressive antiretroviral treatment, and it has been suggested that HIV can cause accelerated aging of the brain. In this study we measured phosphorylated tau (p-tau) in cerebrospinal fluid (CSF) as a potential marker for premature central nervous system (CNS) aging. P-tau increases with normal aging but is not affected by HIV-associated neurocognitive disorders. METHODS: With ...

  10. Premature age-related comorbidities among HIV-infected persons compared with the general population.

    Science.gov (United States)

    Guaraldi, Giovanni; Orlando, Gabriella; Zona, Stefano; Menozzi, Marianna; Carli, Federica; Garlassi, Elisa; Berti, Alessandra; Rossi, Elisa; Roverato, Alberto; Palella, Frank

    2011-12-01

    Human immunodeficiency virus (HIV)-infected patients may have a greater risk of noninfectious comorbidities (NICMs) compared with the general population. We assessed the prevalence and risk factors for NICMs in a large cohort of HIV-infected adults and compared these findings with data from matched control subjects. We performed a case-control study involving antiretroviral therapy (ART)-experienced HIV-infected patients treated at Modena University, Italy, from 2002 through 2009. These patients were compared with age-, sex-, and race-matched adults (control subjects) from the general population included in the CINECA ARNO database. NICMs included cardiovascular disease, hypertension, diabetes mellitus, bone fractures, and renal failure. Polypathology (Pp) was defined as the concurrent presence of ≥2 NICMs. Logistic regression models were constructed to evaluate associated predictors of NICMs and Pp. There were 2854 patients and 8562 control subjects. The mean age was 46 years, and 37% were women. Individual NICM and Pp prevalences in each age stratum were higher among patients than among controls (all P <.001). Pp prevalence among patients aged 41-50 years was similar to that among controls aged 51-60 years (P value was not statistically significant); diabetes mellitus, cardiovascular disease, bone fractures, and renal failure were statistically independent after adjustment for sex, age, and hypertension. Logistic regression models showed that independent predictors of Pp in the overall cohort were (all P < .001) age (odds ratio [OR], 1.11), male sex (OR, 1.77), nadir CD4 cell count <200 cells/μL (OR, 4.46), and ART exposure (OR, 1.01). Specific age-related NICMs and Pp were more common among HIV-infected patients than in the general population. The prevalence of Pp in HIV-infected persons anticipated Pp prevalence observed in the general population among persons who were 10 years older, and HIV-specific cofactors (lower nadir CD4 cell count and more prolonged

  11. Inflammation and Oxidative Stress as Biomarkers of Premature Aging in Persons with Intellectual Disability

    Science.gov (United States)

    Carmeli, Eli; Imam, Bita; Bachar, Asad; Merrick, Joav

    2012-01-01

    The decline in cognitive ability and physical performance in older adults with intellectual disabilities (ID) is accompanied by less participation in social activities and a sedentary lifestyle; however the pathogenesis is not clear yet. It was recently suggested that chronic disease, adverse drug reactions, and aging create a cascade of events…

  12. Premature aging in mice activates a systemic metabolic response involving autophagy induction

    NARCIS (Netherlands)

    G. Mariño (Guillermo); A.P. Ugalde (Alejandro); N. Salvador-Montoliu (Natalia); I. Varela (Ignacio); P.M. Quirós (Pedro); J. Cadiñanos (Juan); I. van der Pluijm (Ingrid); J.M.P. Freije (José); C. López-Otín (Carlos)

    2008-01-01

    textabstractAutophagy is a highly regulated intracellular process involved in the turnover of most cellular constituents and in the maintenance of cellular homeostasis. It is well-established that the basal autophagic activity of living cells decreases with age, thus contributing to the accumulation

  13. Inflammation and Oxidative Stress as Biomarkers of Premature Aging in Persons with Intellectual Disability

    Science.gov (United States)

    Carmeli, Eli; Imam, Bita; Bachar, Asad; Merrick, Joav

    2012-01-01

    The decline in cognitive ability and physical performance in older adults with intellectual disabilities (ID) is accompanied by less participation in social activities and a sedentary lifestyle; however the pathogenesis is not clear yet. It was recently suggested that chronic disease, adverse drug reactions, and aging create a cascade of events…

  14. The transverse diameter of the chest on routine radiographs reliably estimates gestational age and weight in premature infants

    Energy Technology Data Exchange (ETDEWEB)

    Dietz, Kelly R. [University of Minnesota, Department of Radiology, Minneapolis, MN (United States); Zhang, Lei [University of Minnesota, Biostatistical Design and Analysis Center, Minneapolis, MN (United States); Seidel, Frank G. [Lucile Packard Children' s Hospital, Department of Radiology, Stanford, CA (United States)

    2015-08-15

    Prior to digital radiography it was possible for a radiologist to easily estimate the size of a patient on an analog film. Because variable magnification may be applied at the time of processing an image, it is now more difficult to visually estimate an infant's size on the monitor. Since gestational age and weight significantly impact the differential diagnosis of neonatal diseases and determine the expected size of kidneys or appearance of the brain by MRI or US, this information is useful to a pediatric radiologist. Although this information may be present in the electronic medical record, it is frequently not readily available to the pediatric radiologist at the time of image interpretation. To determine if there was a correlation between gestational age and weight of a premature infant with their transverse chest diameter (rib to rib) on admission chest radiographs. This retrospective study was approved by the institutional review board, which waived informed consent. The maximum transverse chest diameter outer rib to outer rib was measured on admission portable chest radiographs of 464 patients admitted to the neonatal intensive care unit (NICU) during the 2010 calendar year. Regression analysis was used to investigate the association between chest diameter and gestational age/birth weight. Quadratic term of chest diameter was used in the regression model. Chest diameter was statistically significantly associated with both gestational age (P < 0.0001) and birth weight (P < 0.0001). An infant's gestational age and birth weight can be reliably estimated by comparing a simple measurement of the transverse chest diameter on digital chest radiograph with the tables and graphs in our study. (orig.)

  15. Metabolic Damage and Premature Thymus Aging Caused by Stromal Catalase Deficiency.

    Science.gov (United States)

    Griffith, Ann V; Venables, Thomas; Shi, Jianjun; Farr, Andrew; van Remmen, Holly; Szweda, Luke; Fallahi, Mohammad; Rabinovitch, Peter; Petrie, Howard T

    2015-08-18

    T lymphocytes are essential mediators of immunity that are produced by the thymus in proportion to its size. The thymus atrophies rapidly with age, resulting in progressive diminution of new T cell production. This decreased output is compensated by duplication of existing T cells, but it results in gradual dominance by memory T cells and decreased ability to respond to new pathogens or vaccines. Here, we show that accelerated and irreversible thymic atrophy results from stromal deficiency in the reducing enzyme catalase, leading to increased damage by hydrogen peroxide generated by aerobic metabolism. Genetic complementation of catalase in stromal cells diminished atrophy, as did chemical antioxidants, thus providing a mechanistic link between antioxidants, metabolism, and normal immune function. We propose that irreversible thymic atrophy represents a conventional aging process that is accelerated by stromal catalase deficiency in the context of an intensely anabolic (lymphoid) environment.

  16. Effect of Infant Prematurity on Auditory Brainstem Response at Preschool Age

    Directory of Open Access Journals (Sweden)

    Sara Hasani

    2013-03-01

    Full Text Available Introduction: Preterm birth is a risk factor for a number of conditions that requires comprehensive examination. Our study was designed to investigate the impact of preterm birth on the processing of auditory stimuli and brain structures at the brainstem level at a preschool age.   Materials and Methods: An auditory brainstem response (ABR test was performed with low rates of stimuli in 60 children aged 4 to 6 years. Thirty subjects had been born following a very preterm labor or late-preterm labor and 30 control subjects had been born following a full-term labor.   Results: Significant differences in the ABR test result were observed in terms of the inter-peak intervals of the I–III and III–V waves, and the absolute latency of the III wave (P

  17. Reading, Mathematics and Fine Motor Skills at 5 Years of Age in US Children who were Extremely Premature at Birth.

    Science.gov (United States)

    Lee, Miryoung; Pascoe, John M; McNicholas, Caroline I

    2017-01-01

    Objectives The prevalence of extreme prematurity at birth has increased, but little research has examined its impact on developmental outcomes in large representative samples within the United States. This study examined the association of extreme prematurity with kindergarteners' reading skills, mathematics skills and fine motor skills. Methods The early childhood longitudinal study-birth cohort, a representative sample of the US children born in 2001 was analyzed for this study. Early reading and mathematics skills and fine motor skills were compared among 200 extremely premature children (EPC) (gestational age sampling weights, children's age, race, sex, and general health status, and parental marital status and education among singleton children. Results At age 5 years, EPC were 2.6(95 % CI 1.7-3.8) times more likely to fail build a gate and were 3.1(95 % CI 1.6-5.8) times more likely to fail all four drawing tasks compared to TC (p values gate, 1.3[95 % CI 1.0-1.7]; failed to draw all four shapes, 1.1[95 % CI 0.8-1.6]) was not significantly different from TC. Mean early reading scale score (36.8[SE:1.3]) of EPC was 4.0 points lower than TC (p value sample of infants, the biological risk of extreme prematurity persists after adjusting for other factors related to development.

  18. Venous lactate, pH and partial pressure of carbon dioxide levels as prognostic indicators in 110 premature calves with respiratory distress syndrome.

    Science.gov (United States)

    Yildiz, R; Aydogdu, U; Guzelbektes, H; Coskun, A; Sen, I

    2017-06-24

    Hyperlactatemia, hypercapnia, low pH and low oxygen saturation (SatO2) are commonly observed in premature calves. These clinical indicators are associated with increased mortality in preterm human newborns with respiratory distress syndrome (RDS). The aim of this study was to investigate the prognostic importance of venous pH, partial pressure of carbon dioxide (pCO2) and lactate level and which parameters are related with mortality in premature calves with RDS. All premature calves (52 male/58 female) were admitted to clinic within 12-24 hours after birth and blood samples were also taken into heparinised plastic syringes from the jugular vein within 30 minutes following admission. Diagnosis of RDS was made by both clinical signs and blood gas results. For the evaluation of independent samples, t test was used to compare the venous blood gas indicators of surviving and non-surviving premature calves. Receiver operating characteristics curves were used to determine a cut-off value in terms of lactate and pCO2 measurements among non-surviving and surviving calves. Venous pH, pCO2, SatO2, base deficit, bicarbonate (HCO3) and lactate levels showed a significant variance between surviving and non-surviving calves. Mean venous pH, pCO2, SatO2, lactate levels in non-surviving premature calves was 7.05, 78.9 mm Hg, 16.1 per cent and 9.50 mmol/l, respectively. Mean pH, pCO2, SatO2 and lactate levels in surviving premature calves were 7.29, 56.3 mm Hg, 25.5 per cent and 5.1 mmol/l, respectively. The cut-off values for lactate and pCO2 were 7.5 mmol/l and 63.5 mm Hg, respectively. In conclusion, the results of the study show that venous blood lactate and pCO2 have prognostic importance in premature calves with RDS. British Veterinary Association.

  19. Could Metabolic Syndrome, Lipodystrophy, and Aging Be Mesenchymal Stem Cell Exhaustion Syndromes?

    Directory of Open Access Journals (Sweden)

    Eduardo Mansilla

    2011-01-01

    Full Text Available One of the most important and complex diseases of modern society is metabolic syndrome. This syndrome has not been completely understood, and therefore an effective treatment is not available yet. We propose a possible stem cell mechanism involved in the development of metabolic syndrome. This way of thinking lets us consider also other significant pathologies that could have similar etiopathogenic pathways, like lipodystrophic syndromes, progeria, and aging. All these clinical situations could be the consequence of a progressive and persistent stem cell exhaustion syndrome (SCES. The main outcome of this SCES would be an irreversible loss of the effective regenerative mesenchymal stem cells (MSCs pools. In this way, the normal repairing capacities of the organism could become inefficient. Our point of view could open the possibility for a new strategy of treatment in metabolic syndrome, lipodystrophic syndromes, progeria, and even aging: stem cell therapies.

  20. Age-Dependent Loss of MMP-3 in Hutchinson–Gilford Progeria Syndrome

    Science.gov (United States)

    Harten, Ingrid A.; Zahr, Rima S.; Lemire, Joan M.; Machan, Jason T.; Moses, Marsha A.; Doiron, Robert J.; Curatolo, Adam S.; Rothman, Frank G.; Wight, Thomas N.; Toole, Bryan P.

    2011-01-01

    Hutchinson–Gilford progeria syndrome (HGPS) is a rare, progressive segmental premature aging disease that includes scleroderma-like skin, progressive joint contracture, and atherosclerosis. Affected individuals die prematurely of heart attacks or strokes. Extracellular matrix dysregulation is implicated as a factor in disease progression. We analyzed messenger RNA and protein levels for matrix metalloproteinases (MMPs)-2,-3, and -9 in HGPS primary human dermal fibroblasts using real-time polymerase chain reaction, enzyme-linked immunosorbent assay, and gelatin zymography. MMP-3 messenger RNA and protein levels decreased significantly with increasing donor age in HGPS fibroblasts but not in controls. MMP-2 messenger RNA also showed a donor age–dependent decrease in HGPS fibroblasts, but levels of secreted protein were unchanged. MMP-9 was similar in HGPS and control cultures. The decreased MMP-3 may represent a shift in the inherent extracellular matrix–degrading proteolytic balance in favor of matrix deposition in HGPS. This metalloproteinase has the potential to serve as a biomarker of therapeutic efficacy when assessing treatments for HGPS. PMID:21852285

  1. Impact of Oxidative Stress in Premature Aging and Iron Overload in Hemodialysis Patients

    Science.gov (United States)

    Hernández Vázquez, Wendy Ivett; Solorio-Meza, Sergio; Albarrán-Tamayo, Froylán; Ramos-Rodríguez, Edna; Benítez- Bribiesca, Luis

    2016-01-01

    Background. Increased oxidative stress is a well described feature of patients in hemodialysis. Their need for multiple blood transfusions and supplemental iron causes a significant iron overload that has recently been associated with increased oxidation of polyunsaturated lipids and accelerated aging due to DNA damage caused by telomere shortening. Methods. A total of 70 patients were evaluated concomitantly, 35 volunteers with ferritin levels below 500 ng/mL (Group A) and 35 volunteers with ferritin levels higher than 500 ng/mL (Group B). A sample of venous blood was taken to extract DNA from leukocytes and to measure relative telomere length by real-time PCR. Results. Patients in Group B had significantly higher plasma TBARS (p = 0.008), carbonyls (p = 0.0004), and urea (p = 0.02) compared with those in Group A. Telomeres were significantly shorter in Group B, 0.66 (SD, 0.051), compared with 0.75 (SD, 0.155) in Group A (p = 0.0017). We observed a statistically significant association between relative telomere length and ferritin levels (r = −0.37, p = 0.001). Relative telomere length was inversely related to time on hemodialysis (r = −0.27, p = 0.02). Conclusions. Our findings demonstrate that iron overload was associated with increased levels of oxidative stress and shorter relative telomere length. PMID:27800120

  2. Hutchinson-Gilford progeria syndrome as a model for vascular aging.

    Science.gov (United States)

    Brassard, Jonathan A; Fekete, Natalie; Garnier, Alain; Hoesli, Corinne A

    2016-02-01

    Hutchinson-Gilford progeria syndrome (HGPS) is a premature aging disorder caused by a de novo genetic mutation that leads to the accumulation of a splicing isoform of lamin A termed progerin. Progerin expression alters the organization of the nuclear lamina and chromatin. The life expectancy of HGPS patients is severely reduced due to critical cardiovascular defects. Progerin also accumulates in an age-dependent manner in the vascular cells of adults that do not carry genetic mutations associated with HGPS. The molecular mechanisms that lead to vascular dysfunction in HGPS may therefore also play a role in vascular aging. The vascular phenotypic and molecular changes observed in HGPS are strikingly similar to those seen with age, including increased senescence, altered mechanotransduction and stem cell exhaustion. This article discusses the similarities and differences between age-dependent and HGPS-related vascular aging to highlight the relevance of HGPS as a model for vascular aging. Induced pluripotent stem cells derived from HGPS patients are suggested as an attractive model to study vascular aging in order to develop novel approaches to treat cardiovascular disease.

  3. Prematurely delivered rats show improved motor coordination during sensory-evoked motor responses compared to age-matched controls.

    Science.gov (United States)

    Roberto, Megan E; Brumley, Michele R

    2014-05-10

    The amount of postnatal experience for perinatal rats was manipulated by delivering pups one day early (postconception day 21; PC21) by cesarean delivery and comparing their motor behavior to age-matched controls on PC22 (the typical day of birth). On PC22, pups were tested on multiple measures of motor coordination: leg extension response (LER), facial wiping, contact righting, and fore- and hindlimb stepping. The LER and facial wiping provided measures of synchronous hind- and forelimb coordination, respectively, and were sensory-evoked. Contact righting also was sensory-evoked and provided a measure of axial coordination. Stepping provided a measure of alternated forelimb and hindlimb coordination and was induced with the serotonin receptor agonist quipazine. Pups that were delivered prematurely and spent an additional day in the postnatal environment showed more bilateral limb coordination during expression of the LER and facial wiping, as well as a more mature righting strategy, compared to controls. These findings suggest that experience around the time of birth shapes motor coordination and the expression of species-typical behavior in the developing rat.

  4. Intrauterine infection and prematurity.

    Science.gov (United States)

    Gonçalves, Luís F; Chaiworapongsa, Tinnakorn; Romero, Roberto

    2002-01-01

    Intrauterine infection is a major cause of premature labor with and without intact membranes. Intrauterine infection is present in approximately 25% of all preterm births and the earlier the gestational age at delivery, the higher the frequency of intra-amniotic infection. Microorganisms may also gain access to the fetus before delivery. A fetal inflammatory response syndrome elicited in response to microbial products is associated with the impending onset of preterm labor and also with multi-systemic organ involvement in the human fetus and a higher rate of perinatal morbidity. The most common microorganisms involved in intrauterine infections are Ureaplasma urealyticum, Fusobacterium species and Mycoplasma hominis. The role of Chlamydia trachomatis and viruses in preterm labor remain to be determined. Use of molecular microbiology techniques to diagnose intrauterine infection may uncover the role of fastidious microorganisms that have not yet been discovered. Antibiotic administration to patients with asymptomatic bacteriuria is associated with a significant reduction in the rate of preterm birth. However, such benefit has not been demonstrated for patients with bacterial vaginosis, or women who carry Streptococcus agalactia, Ureaplasma urealyticum or Trichomonas vaginalis. Antibiotic administration to patients with preterm premature rupture of membranes is associated with prolongation of pregnancy and a reduction in the rate of clinical chorioamnionitis and neonatal sepsis. The benefit has not been demonstrated in patients with preterm labor and intact membranes. Major efforts are required to determine why some women develop an ascending intrauterine infection and others do not and also what interventions may reduce the deleterious effect of systemic fetal inflammation. Copyright 2002 Wiley-Liss, Inc.

  5. Helicobacter pylori colonization and pregnancies complicated by preeclampsia, spontaneous prematurity, and small for gestational age birth.

    Science.gov (United States)

    den Hollander, Wouter J; Schalekamp-Timmermans, Sarah; Holster, I Lisanne; Jaddoe, Vincent W; Hofman, Albert; Moll, Henriëtte A; Perez-Perez, Guillermo I; Blaser, Martin J; Steegers, Eric A P; Kuipers, Ernst J

    2017-04-01

    Preeclampsia (PE), small for gestational age (SGA), and spontaneous preterm birth (PTB) each may be complications of impaired placental function in pregnancy. Although their exact pathogenesis is still unknown, certain infectious agents seem to play a role. Helicobacter pylori (H. pylori) colonization has been associated with increased risk for PE. Our aim was to assess the association between H. pylori colonization and PE, SGA, and PTB. We measured IgG anti-H. pylori and CagA antibodies in serum of pregnant women (median 20.5 weeks, range 16.5-29.4) who participated in a population-based prospective cohort study. Delivery and medical records were assessed. Information on demographics, education, and maternal risk factors was collected by questionnaire. We used multivariate logistic regression analyses to assess associations between H. pylori colonization and PE, SGA, and PTB. In total, 6348 pregnant women were assessed. H. pylori positivity was found in 2915 (46%) women, of whom 1023 (35%) also were CagA-positive. Pregnancy was complicated by PE, SGA, or PTB in 927 (15%) women. H. pylori colonization was associated with PE (aOR 1.51; 95%CI 1.03-2.25). Differentiation according to CagA status revealed the same risk. H. pylori was positively related with SGA, mainly explained by CagA-positive strains (aOR 1.34; 1.04-1.71). No association was observed between H. pylori and PTB. Our data suggest that H. pylori colonization may be a risk factor for PE and SGA. If these associations are confirmed by future studies and shown to be causal, H. pylori eradication may reduce related perinatal morbidity and mortality. © 2016 John Wiley & Sons Ltd.

  6. Ultrastructural features of skeletal muscle in adult and aging Ts65Dn mice, a murine model of Down syndrome.

    Science.gov (United States)

    Cisterna, Barbara; Costanzo, Manuela; Scherini, Elda; Zancanaro, Carlo; Malatesta, Manuela

    2013-10-01

    Patients with Down syndrome (DS) suffer from muscle hypotonia and an altered motor coordination whose basic mechanisms are still largely unknown. Interestingly, they show muscle weakness like healthy aged subjects, suggesting possible similarity with sarcopenia: to test this hypothesis, the Ts65Dn mouse, a suitable animal model of DS, was employed. The fine structure of skeletal fibres of the quadriceps femoris muscle was analysed in adult (12 months) and aging (19 months) animals and their age-matched euploid controls by combining morphometry and immunocytochemistry at transmission electron microscopy. Results demonstrated structural alterations of mitochondria and myonuclei reminiscent of those observed in age-related sarcopenia, supporting the hypothesis that trisomy leads to an early aging of skeletal muscle consistent with the multi-systemic premature aging typical of DS.

  7. Down syndrome and aging: a leadership and social justice landscape.

    Science.gov (United States)

    Nevel, Kathleen M

    2010-01-01

    The growing phenomenon of aging adults with Down syndrome and other intellectual and developmental disabilities and dementia can be traumatic and overwhelming for families and caregivers. The realization is beset with angst and necessitates restructuring policies and programs while exploring the leadership landscape to facilitate a values framework for persons with Down syndrome. This article considers the changing role of the caregiver and the influences of community support networks, social policy, social justice, and quality of life adaptations for aging persons with Down syndrome and dementia. Note: To maintain confidentiality, personal communications noted throughout this article identify the individual using initials rather than surname.

  8. Clinical trial of a farnesyltransferase inhibitor in children with Hutchinson–Gilford progeria syndrome

    National Research Council Canada - National Science Library

    Leslie B. Gordon; Monica E. Kleinman; David T. Miller; Donna S. Neuberg; Anita Giobbie-Hurder; Marie Gerhard-Herman; Leslie B. Smoot; Catherine M. Gordon; Robert Cleveland; Brian D. Snyder; Brian Fligor; W. Robert Bishop; Paul Statkevich; Amy Regen; Andrew Sonis; Susan Riley; Christine Ploski; Annette Correia; Nicolle Quinn; Nicole J. Ullrich; Ara Nazarian; Marilyn G. Liang; Susanna Y. Huh; Armin Schwartzman; Mark W. Kieran

    2012-01-01

    Hutchinson–Gilford progeria syndrome (HGPS) is an extremely rare, fatal, segmental premature aging syndrome caused by a mutation in LMNA that produces the farnesylated aberrant lamin A protein, progerin...

  9. Down-regulation of progesterone receptor membrane component 1 (PGRMC1 in peripheral nucleated blood cells associated with premature ovarian failure (POF and polycystic ovary syndrome (PCOS

    Directory of Open Access Journals (Sweden)

    Karlström Per-Olof

    2010-06-01

    Full Text Available Abstract Background Progesterone receptor membrane component 1 (PGRMC1 is a member of a progesterone-binding complex implicated in female reproduction. We aimed i to determine the natural expression of PGRMC1 in peripheral nucleated blood cells throughout the menstrual cycle and ii to investigate any association between PGRMC1 levels in leukocytes and conditions characterized by reduced fertility. Methods We analyzed PGRMC1 expression in peripheral leukocytes from 15 healthy cycling women over four weeks. Additionally, we determined PGRMC1 levels in samples from patients with premature ovarian failure (POF and polycystic ovary syndrome (PCOS as well as in healthy postmenopausal women and male controls. The levels of PGRMC1 protein in nucleated peripheral blood cells were quantified by Western blot analysis. Results PGRMC1 levels did not vary significantly throughout the menstrual cycle. We observed a significant down-regulation of PGRMC1 in postmenopausal women and in patients with premature ovarian failure (POF and polycystic ovary syndrome (PCOS when compared to early follicular phase of healthy women. Conclusion This study suggests that reduced levels of PGRMC1 in peripheral leukocytes are associated with perturbed ovulatory function.

  10. An Influence of Birth Weight, Gestational Age, and Apgar Score on Pattern Visual Evoked Potentials in Children with History of Prematurity

    Directory of Open Access Journals (Sweden)

    Marta Michalczuk

    2015-01-01

    Full Text Available Purpose. The objective of our study was to examine a possible influence of gestational age, birth weight, and Apgar score on amplitudes and latencies of P100 wave in preterm born school-age children. Materials and Methods. We examined the following group of school-age children: 28 with history of prematurity (mean age 10.56 ± 1.66 years and 25 born at term (mean age 11.2 ± 1.94 years. The monocular PVEP was performed in all children. Results. The P100 wave amplitudes and latencies significantly differ between preterm born school-age children and those born at term. There was an essential positive linear correlation of the P100 wave amplitudes with birth weight, gestational age, and Apgar score. There were the negative linear correlations of P100 latencies in 15-minute stimulation from O1 and Oz electrode with Apgar score and O1 and O2 electrode with gestational age. Conclusions. PVEP responses vary in preterm born children in comparison to term. Low birth weight, early gestational age, and poor baseline output seem to be the predicting factors for the developmental rate of a brain function in children with history of prematurity. Further investigations are necessary to determine perinatal factors that can affect the modified visual system function in preterm born children.

  11. [Acute coronary syndrome in women below 60 years of age

    NARCIS (Netherlands)

    Maas, A.H.E.M.; Lagro-Janssen, T.; Boer, M.J. de

    2011-01-01

    Women below 60 years of age with acute coronary syndrome (ACS) have higher in-hospital and 1-year mortality rates than similarly aged men, despite the lower prevalence of obstructive coronary artery disease. When ACS occurs, gender differences in symptom presentation result in later recognition by

  12. Agreement between grating acuity at age 1 year and Snellen acuity at age 5.5 years in the preterm child. Cryotherapy for Retinopathy of Prematurity Cooperative Group.

    Science.gov (United States)

    Dobson, V; Quinn, G E; Siatkowski, R M; Baker, J D; Hardy, R J; Reynolds, J D; Trese, M T; Tung, B

    1999-02-01

    To examine the relation between grating acuity at age 1 year and Snellen acuity and grating acuity at 5.5 years, in preterm children with birth weights less than 1251 g. Subjects were participants in the multicenter study of Cryotherapy for Retinopathy of Prematurity. The Teller acuity card (TAC; Vistech Consultants, Dayton, OH) procedure was used to measure monocular grating acuity in children at ages 1 and 5.5 years. Early-treatment diabetic retinopathy study (ETDRS) charts were used to measure the childrens' monocular recognition (Snellen) acuity at age 5.5 years. Data are presented for 575 eyes with measurable TAC grating acuity at 1 year and 111 eyes that had no measurable acuity at 1 year. Among eyes with normal acuity at 1 year, 86.8% showed normal Snellen acuity, and 94.3% showed normal grating acuity at 5.5 years. Among eyes that were blind (i.e., had no measurable TAC grating acuity) at 1 year, 96.8% showed no quantifiable Snellen acuity, and 89.2% showed no quantifiable grating acuity at 5.5 years. Only 2.4% of eyes had acuity in the range between normal and blind at 1 year (i.e., measurable grating acuity Snellen and grating acuity at age 5.5 years, and eyes that had no quantifiable acuity at 1 year remained blind at 5.5 years. Relative position of an eye's acuity score within the normal range was not predictive of the relative position of that eye's later acuity score.

  13. Your Premature Baby

    Science.gov (United States)

    ... birth defects, premature birth and infant mortality. Solving premature birth Featured articles Accomplishments and lessons learned since ... Complications & Loss > Preterm labor & premature birth > Premature babies Premature babies E-mail to a friend Please fill ...

  14. Down Syndrome and the aging process: a systematic review

    OpenAIRE

    Bruno de Sousa Lopes; Lucy Gomes Vianna; Clayton Franco Moraes; Gustavo de Azevedo Carvalho; Vicente Paulo Alves

    2015-01-01

    The study aimed to identify and update the knowledge about older people with Down Syndrome (DS), and to understand the peculiarities of the aging process in this population. Bibliographical research conducted by Portal de Periódicos da Coordenação de Aperfeiçoamento de Pessoal de Nível Superior and High Wire portal. Inclusion criteria were articles published in the last ten years with the words “Down Syndrome" and “Elderly”.  

  15. [ASSOCIATION OF AGE OBESITY AND METABOLIC SYNDROME IN MEN].

    Science.gov (United States)

    Pinkhasov, B B; Selyatitskaya, V G; Karapetyan, A R; Lutov, Yu V

    2016-01-01

    The study included 253 men aged 22 to 74 years. Was shown that at the end of the first period of middle age the accumulation of adipose tissue was enhanced that was associated with the change of dominance from the gynoid to the android type of obesity. The most pronounced increase in the frequency of occurrence of individual components and the overall metabolic syndrome was diagnosed in men in the second period of middle age with a following decrease in the frequency such components as hypertriglyceridemia, low HDL cholesterol and hyperglycemia in elderly age. In the all three age groups the value of the index of visceral obesity was significantly higher in men with android type of obesity compared with gynoid. Thus, the men with gynoid compared with android type of obesity have a lower risk of development metabolic syndrome in all age groups.

  16. Comparison of the Clinical Characteristics of Newborn Respiratory Distress Syndrome between Full-term and Premature Infants%足月儿与早产儿呼吸窘迫综合征发病临床比较分析

    Institute of Scientific and Technical Information of China (English)

    张怡

    2011-01-01

    Objective To compare the clinical characteristics of newborn respiratory distress syndrome between full-term and premature infants, and to further explore the similarities and differences between them.Methods Eighty-six eases of confirmed respiratory distress syndrome with different gestational age in ICU of the department of Newborn in our hospital from January, 2007 to August, 2010, were enrolled in this study. They were divided into two groups: the premature infant group (50 cases, < 37 weeks) and the full-term group (36cases, > 37 weeks). The cause of disease, the onset time, X-ray performance, the treatment and complications of them were analyzed retrospectively. Results The causes of disease in full-term infants were the meeonium aspiration pneumonia, asphyxia, cesarean section and so on. The causes of disease in premature infants were premature delivery, premature rupture of memberane, asphyxia, cesarean section and aspiration pneumonia. Progressive dyspnea and cyanosis appeared in full-term infants ( 10.5 ± 4.1 ) h after birth, the mechanical ventilation time was (97.7 ± 17.2) h. While Progressive dyspnea, groaning and eyanosis appeared in premature infants (3.9 ± 2.7) h after birth, the mechanical ventilation time was (79.7 ± 7.6) h. The chest X-ray of infants in the two groups showed obvious diffused infiltrating shade in double lungs and air bronchogram.Most full-term infants with respiratory distress syndrome were complicated with the protopathy signs.Conclusions The incidence of respiratory distress syndrome is later, and the mechanical ventilation time was longer in full-term infants than in premature infants. Meconium aspiration pneumonia, asphyxia, and cesarean section are high risk factors of respiratory distress syndrome in full-term infants, while insufficient generative capacity of pulmonary surfactant is the high risk factor in premature infants.%目的 比较足月新生儿与早产儿呼吸窘迫综合征发病的临床特点,以进

  17. Evidence of a normal mean telomere fragment length in patients with Ullrich-Turner syndrome

    DEFF Research Database (Denmark)

    Kveiborg, Marie; Gravholt, Claus Højbjerg; Kassem, M

    2001-01-01

    Clinical and epidemiological studies suggest that premature ageing and increased morbidity and mortality is present in Ullrich-Turner syndrome. We studied telomere restriction fragment length (TRFL) in 30 women with Ullrich-Turner syndrome and 30 age-matched control women. All Turner women had...... with excessive telomere loss, at least when studied in peripheral blood leucocytes, and thus quite different from other premature ageing syndromes....

  18. Premature birth and diseases in premature infants: common genetic background?

    Science.gov (United States)

    Hallman, Mikko

    2012-04-01

    It has been proposed that during human evolution, development of obligate bipedalism, narrow birth canal cross-sectional area and the large brain have forced an adjustment in duration of pregnancy (scaling of gestational age; Plunkett 2011). Children compared to other mammals are born with proportionally small brains (compared to adult brains), suggesting shortening of pregnancy duration during recent evolution. Prevalence of both obstructed delivery and premature birth is still exceptionally high. In near term infants, functional maturity and viability is high, and gene variants predisposing to respiratory distress syndrome (RDS) are rare. Advanced antenatal and neonatal treatment practices during the new era of medicine allowed survival of also very preterm infants (gestation premature birth. Specific genes associating with diseases in preterm infants may also contribute to the susceptibility to preterm birth. Understanding and applying the knowledge of genetic interactions in normal and abnormal perinatal-neonatal development requires large, well-structured population cohorts, studies involving the whole genome and international interdisciplinary collaboration.

  19. Prevalence, incidence, and age at diagnosis in Marfan Syndrome

    DEFF Research Database (Denmark)

    Groth, Kristian A; Hove, Hanne; Kyhl, Kasper

    2015-01-01

    Background: Marfan syndrome is a genetic disorder with considerable morbidity and mortality. Presently, clinicians use the 2010 revised Ghent nosology, which includes optional genetic sequencing of the FBN1 gene, to diagnose patients. So far, only a few studies based on older diagnostic criteria...... have reported a wide range of prevalence and incidence. Our aim was to study prevalence, incidence, and age at diagnosis in patients with Marfan syndrome. Method: Using unique Danish patient-registries, we identified all possible Marfan syndrome patients recorded by the Danish healthcare system (1977......-2014). Following, we confirmed or rejected the diagnosis according to the 2010 revised Ghent nosology. Results: We identified a total of 1628 persons with possible Marfan syndrome. We confirmed the diagnosis in 412, whereof 46 were deceased, yielding a maximum prevalence of 6.5/100,000 at the end of 2014...

  20. Age-related changes of adaptive and neuropsychological features in persons with Down Syndrome.

    Directory of Open Access Journals (Sweden)

    Alessandro Ghezzo

    Full Text Available Down Syndrome (DS is characterised by premature aging and an accelerated decline of cognitive functions in the vast majority of cases. As the life expectancy of DS persons is rapidly increasing, this decline is becoming a dramatic health problem. The aim of this study was to thoroughly evaluate a group of 67 non-demented persons with DS of different ages (11 to 66 years, from a neuropsychological, neuropsychiatric and psychomotor point of view in order to evaluate in a cross-sectional study the age-related adaptive and neuropsychological features, and to possibly identify early signs predictive of cognitive decline. The main finding of this study is that both neuropsychological functions and adaptive skills are lower in adult DS persons over 40 years old, compared to younger ones. In particular, language and short memory skills, frontal lobe functions, visuo-spatial abilities and adaptive behaviour appear to be the more affected domains. A growing deficit in verbal comprehension, along with social isolation, loss of interest and greater fatigue in daily tasks, are the main features found in older, non demented DS persons evaluated in our study. It is proposed that these signs can be alarm bells for incipient dementia, and that neuro-cognitive rehabilitation and psycho-pharmacological interventions must start as soon as the fourth decade (or even earlier in DS persons, i.e. at an age where interventions can have the greatest efficacy.

  1. Health conditions associated with aging and end of life of adults with Down syndrome.

    Science.gov (United States)

    Esbensen, Anna J

    2010-01-01

    Expectations for the life course of individuals with Down syndrome (DS) have changed, with life expectancy estimates increasing from 12 in 1949 to nearly 60 years of age today (Bittles & Glasson, 2004; Penrose, 1949). Along with this longer life expectancy comes a larger population of adults with DS who display premature age-related changes in their health. There is thus a need to provide specialized health care to this aging population of adults with DS who are at high risk for some conditions and at lower risk for others. This review focuses on the rates and contributing factors to medical conditions that are common in adults with DS or that show changes with age. The review of medical conditions includes the increased risk for skin and hair changes, early onset menopause, visual and hearing impairments, adult onset seizure disorder, thyroid dysfunction, diabetes, obesity, sleep apnea and musculoskeletal problems. The different pattern of conditions associated with the mortality of adults with DS is also reviewed.

  2. Association of Microalbuminuria with Metabolic Syndrome among Aged Population.

    Science.gov (United States)

    Li, Xiao-Hong; Lin, Hai-Yan; Wang, Shu-Hua; Guan, Li-Ying; Wang, Yi-Bing

    2016-01-01

    Background. The impact of the various components of metabolic syndrome (MetS) on chronic kidney disease has been conflicting. We aim to investigate the association between MetS and microalbuminuria and identify the major contributing components of MetS that result in microalbuminuria in the Chinese aged population. Methods. A total of 674 adults aged 55-98 years (males: 266; mean age: 66.5 ± 7.5 years) were studied. MetS was defined by the 2004 Chinese Diabetes Society criteria and microalbuminuria by urine albumin-creatinine ratio (UACR) ≥3 mg/mmoL. Results. The prevalence of microalbuminuria was gradually increased with increasing number of MetS components (P microalbuminuria (OR = 1.781, 95% CI = 1.226-2.587; P microalbuminuria in the Chinese aged population. Elevated FPG is the most predominant component of metabolic syndrome associated with microalbuminuria followed by elevated SBP and reduced HDL-C.

  3. Chronic Glucocorticoid Hypersecretion in Cushing's Syndrome Exacerbates Cognitive Aging

    Science.gov (United States)

    Michaud, Kathy; Forget, Helene; Cohen, Henri

    2009-01-01

    Cumulative exposure to glucocorticoid hormones (GC) over the lifespan has been associated with cognitive impairment and may contribute to physical and cognitive degeneration in aging. The objective of the present study was to examine whether the pattern of cognitive deficits in patients with Cushing's syndrome (CS), a disorder characterized by…

  4. Chronic Glucocorticoid Hypersecretion in Cushing's Syndrome Exacerbates Cognitive Aging

    Science.gov (United States)

    Michaud, Kathy; Forget, Helene; Cohen, Henri

    2009-01-01

    Cumulative exposure to glucocorticoid hormones (GC) over the lifespan has been associated with cognitive impairment and may contribute to physical and cognitive degeneration in aging. The objective of the present study was to examine whether the pattern of cognitive deficits in patients with Cushing's syndrome (CS), a disorder characterized by…

  5. The phenotype of polycystic ovary syndrome ameliorates with aging

    NARCIS (Netherlands)

    Brown, Zoe A.; Louwers, Yvonne V.; Fong, Sharon Lie; Valkenburg, Olivier; Birnie, Erwin; de Jong, Frank H.; Fauser, Bart C. J. M.; Laven, Joop S. E.

    2011-01-01

    Objective: To assess the effects of aging on the features of polycystic ovary syndrome (PCOS). Design: Retrospective longitudinal follow-up study. Setting: Tertiary care center. Patient(s): Patients with PCOS, diagnosed according to the 2003 Rotterdam criteria, who visited the outpatient clinic on c

  6. The phenotype of polycystic ovary syndrome ameliorates with aging

    NARCIS (Netherlands)

    Brown, Zoe A.; Louwers, Yvonne V.; Fong, Sharon Lie; Valkenburg, Olivier; Birnie, Erwin; de Jong, Frank H.; Fauser, Bart C. J. M.; Laven, Joop S. E.

    2011-01-01

    Objective: To assess the effects of aging on the features of polycystic ovary syndrome (PCOS). Design: Retrospective longitudinal follow-up study. Setting: Tertiary care center. Patient(s): Patients with PCOS, diagnosed according to the 2003 Rotterdam criteria, who visited the outpatient clinic on

  7. Osteopenia - premature infants

    Science.gov (United States)

    Neonatal rickets; Brittle bones - premature infants; Weak bones - premature infants; Osteopenia of prematurity ... the baby. This helps the baby grow. A premature infant may not receive the proper amount of ...

  8. Influence of advanced age of maternal grandmothers on Down syndrome

    Directory of Open Access Journals (Sweden)

    Ramachandra Nallur B

    2006-01-01

    Full Text Available Abstract Background Down syndrome (DS is the most common chromosomal anomaly associated with mental retardation. This is due to the occurrence of free trisomy 21 (92–95%, mosaic trisomy 21 (2–4% and translocation (3–4%. Advanced maternal age is a well documented risk factor for maternal meiotic nondisjunction. In India three children with DS are born every hour and more DS children are given birth to by young age mothers than by advanced age mothers. Therefore, detailed analysis of the families with DS is needed to find out other possible causative factors for nondisjunction. Methods We investigated 69 families of cytogenetically confirmed DS children and constructed pedigrees of these families. We also studied 200 randomly selected families belonging to different religions as controls. Statistical analysis was carried out using logistic regression. Results Out of the 69 DS cases studied, 67 were free trisomy 21, two cases were mosaic trisomy 21 and there were none with translocation. The number of DS births was greater for the young age mothers compared with the advanced age mothers. It has also been recorded that young age mothers (18 to 29 years born to their mothers at the age 30 years and above produced as high as 91.3% of children with DS. The logistic regression of case- control study of DS children revealed that the odds ratio of age of grandmother was significant when all the four variables were used once at a time. However, the effect of age of mother and father was smaller than the effect of age of maternal grandmother. Therefore, for every year of advancement of age of the maternal grandmother, the risk (odds of birth of DS baby increases by 30%. Conclusion Besides the known risk factors, mother's age, father's age, the age of the maternal grandmother at the time of birth of the mother is a risk factor for the occurrence of Down syndrome.

  9. 早产儿发生呼吸窘迫综合征及患儿宫外发育迟缓的相关因素分析%Analysis on the relevant factors of respiratory distress syndrome and ex-trauterine growth restriction for premature infants

    Institute of Scientific and Technical Information of China (English)

    项俊华; 夏红卫

    2015-01-01

    Objective To analyze the relevant factors of respiratory distress syndrome for premature infants and the risk factors of extrauterine growth restriction(EUGR)for the premature infants with respiratory distress syndrome. Methods All 153 premature infants with respiratory distress syndrome were selected as case group, and they were assigned to EUGR group and non-EUGR group on the basis of whether they had EUGR. 200 premature infants without respiratory distress syndrome were selected as control group during the same period. Clinical data of each group were observed and relevant factors were analyzed. Results Differences of incidence rates of EUGR and severe EUGR between the pre-mature infants with respiratory distress syndrome and those without respiratory distress syndrome were statistically sig-nificant (P<0.05). Incidence rates of gestational age, birth weight, multiple pregnancy rate, preventive application rate of PS,antenatal application rate of hormone,fetal distress or asphyxia,amniotic fluid aspiration,intrauterine in-fection, placenta previa/placental abruption, cesarean section, pregnancy-induced hypertension and ges tational dia-betes mellitus were relevant factors of respiratory distress syndrome for premature infants (P<0.05). Gestational age of less than 31 weeks, multiple pregnancy, time reaching total enteral nutrition, feeding intolerance, and time resuming birth weight were independent risk factors of EUGR for premature patients with respiratory distress syndrome (P<0.05). Antenatal application of hormone was the protective factor of EUGR for premature infants with respiratory dis-tress syndrome (P<0.05). Conclusion Young gestational age and multiple pregnancy are common risk factors of respi-ratory distress syndrome and EUGR for premature infants, and antenatal application of hormone has protective effect on the two diseases. Respiratory distress syndrome has obvious adverse effect on infants' extrauterine growth, and EU-GR for premature infants

  10. Down Syndrome and the aging process: a systematic review

    Directory of Open Access Journals (Sweden)

    Bruno Sousa Lopes

    2015-05-01

    Full Text Available The study aimed to identify and update the knowledge about older people with Down Syndrome (DS, and to understand the peculiarities of the aging process in this population. Bibliographical research conducted by Portal de Periódicos da Coordenação de Aperfeiçoamento de Pessoal de Nível Superior and High Wire portal. Inclusion criteria were articles published in the last ten years with the words “Down Syndrome" and “Elderly”.  

  11. Down Syndrome and the aging process: a systematic review

    OpenAIRE

    Lopes, Bruno Sousa; Universidade Católica de Brasília (UCB). Brasília (DF).; Vianna, Lucy Gomes; Universidade Católica de Brasília (UCB); Moraes, Clayton Franco; Universidade Católica de Brasília (UCB).; Carvalho, Gustavo de Azevedo; Universidade Católica de Brasília (UCB). Brasília (DF).; Alves, Vicente Paulo; Universidade Católica de Brasília (UCB). Brasília (DF).

    2015-01-01

    The study aimed to identify and update the knowledge about older people with Down Syndrome (DS), and to understand the peculiarities of the aging process in this population. Bibliographical research conducted by Portal de Periódicos da Coordenação de Aperfeiçoamento de Pessoal de Nível Superior and High Wire portal. Inclusion criteria were articles published in the last ten years with the words “Down Syndrome" and “Elderly”.   O estudo teve como objetivo identificar e atualizar os conheci...

  12. Aging in Persons with Rett Syndrome: An Updated Review

    Directory of Open Access Journals (Sweden)

    Meir Lotan

    2010-01-01

    Full Text Available Rett syndrome (RS is a neurological disease affecting mainly females, characterized by an arrest of brain development caused by an X-linked mutation. Rett syndrome is the first human disease found to be caused by defects in a protein involved in regulating gene expression through its interaction with methylated DNA. The disease has been traced to a defective gene called MECP2. The case stories presented here and recent findings show that females with RS are able to live into old age. Due to the observed longevity of individuals with RS, and the fact that individuals with RS present the therapist/physician with specific clinical challenges, it is suggested that proper, long-term, and individually tailored, intensive care should be provided at all ages in the hope to prevent or at least reduce the age-related deterioration that is typical of this population.

  13. Synaptogenesis and Myelination in the Nucleus/Tractus Solitarius: Potential Role in Apnea of Prematurity, Congenital Central Hypoventilation, and Sudden Infant Death Syndrome.

    Science.gov (United States)

    Sarnat, Harvey B; Flores-Sarnat, Laura

    2016-05-01

    Fetuses as early as 15 weeks' gestation exhibit rhythmical respiratory movements shown by real-time ultrasonography. The nucleus/tractus solitarius is the principal brainstem respiratory center; other medullary nuclei also participate. The purpose was to determine temporal maturation of synaptogenesis. Delayed synaptic maturation may explain neurogenic apnea or hypoventilation of prematurity and some cases of sudden infant death syndrome. Sections of medulla oblongata were studied from 30 human fetal and neonatal brains 9 to 41 weeks' gestation. Synaptophysin demonstrated the immunocytochemical sequence of synaptogenesis. Other neuronal markers and myelin stain also were applied. The nucleus/tractus solitarius was similarly studied in fetuses with chromosomopathies, metabolic encephalopathies, and brain malformations. Synapse formation in the nucleus solitarius begins at about 12 weeks' gestation and matures by 15 weeks; myelination initiated at 33 weeks. Synaptogenesis was delayed in 3 fetuses with different conditions, but was not specific for only nucleus solitarius. Delayed synaptogenesis or myelination in the nucleus solitarius may play a role in neonatal hypoventilation, especially in preterm infants and in some sudden infant death syndrome cases.

  14. Cardiovascular follow-up at school age after perinatal glucocorticoid exposure in prematurely born children: perinatal glucocorticoid therapy and cardiovascular follow-up.

    Science.gov (United States)

    de Vries, Willem B; Karemaker, Rosa; Mooy, Nicole F; Strengers, Jan L M; Kemperman, Hans; Baerts, Wim; Veen, Sylvia; Visser, Gerard H A; Heijnen, Cobi J; van Bel, Frank

    2008-08-01

    To study whether antenatal or neonatal glucocorticoid therapy to reduce the incidence and severity of chronic lung disease in preterm infants is associated with long-term adverse cardiac effects and hypertension. Retrospective matched-cohort study. Outpatient clinic of a tertiary care hospital. One hundred ninety-three children aged 7 to 10 years who had been born prematurely between December 2, 1993, and September 15, 1997. Main Exposure Neonatal treatment with dexamethasone disodium phosphate(n = 48) or the clinically equally effective glucocorticoid hydrocortisone (n = 51), or only antenatal treatment with betamethasone disodium phosphate and betamethasone acetate (n = 51). These 3 groups were compared with a reference group of prematurely born children who had not been exposed to perinatal glucocorticoid therapy (n = 43). General hemodynamic data (heart rate and blood pressure), cardiovascular function as assessed at echocardiography, intima-media thickness of the carotid arteries, and cardiac biochemical features as early markers of expansion and volume overload of the cardiac left ventricle (B-type natriuretic peptide and N-terminal pro-B-type natriuretic peptide). No significant group differences were found for heart rate, blood pressure, biochemical features, intima-media thickness, or systolic or diastolic left ventricular function. Although no differences were found in blood pressure and cardiovascular function at school age in children antenatally or neonatally treated with glucocorticoids, further cardiovascular follow-up may be advisable because cardiovascular dysfunction may become apparent only later in life.

  15. The Effects of Massage with Coconut and Sunflower Oils on Oxygen Saturation of Premature Infants with Respiratory Distress Syndrome Treated With Nasal Continuous Positive Airway Pressure

    Directory of Open Access Journals (Sweden)

    Sousan Valizadeh

    2012-11-01

    Full Text Available Introduction: Nowadays particular emphasis is placed on the developmental aspects of premature infants care. Massage therapy is one of the best-known methods of caring. Due to the minimal touch policy in neonatal intensive care units (NICUs, massaging is not usually performed on premature infants. However, there is not sufficient evidence to support the claim that newborn infants with complex medical conditions should not be massaged. This study aimed to determine the effects of massage with coconut and sunflower oils on oxygen saturation of infants with respiratory distress syndrome (RDS treated with nasal continuous positive airway pressure (NCPAP. Methods: This was a randomized controlled trial on 90 newborns who were admitted to Alzahra Hospital (Tabriz, Iran. The infants were divided into control and massage therapy groups (massage with coconut and sunflower oils. Data was collected using a hospital documentation form. A 15-minute daily massage was performed for 3 days. Respiratory rate (RR, fraction of inspired oxygen (FiO2 and oxygen saturation were measured 5 minutes before the massage, 3 times during the massage, and 5 minutes after the massage. The collected data was analyzed using a mixed model. Results: In comparison to coconut oil and control groups, mean oxygen saturation of sunflower oil group was improved. In addition, the coconut massage group showed lower oxygen saturation than the control group but was all values were within the normal range. Although massage decreased oxygen saturation, there was no need to increase FiO2. Conclusion: Massage therapy can provide developmental care for infants treated with NCPAP.

  16. Premature delivery

    Directory of Open Access Journals (Sweden)

    Bernardita Donoso Bernales

    2012-09-01

    Full Text Available Preterm delivery is the single most important cause of perinatal morbidity and mortality. In Chile, preterm births have increased in the past decade, although neonatal morbidity and mortality attributable to it shows a downward trend, thanks to improvements in neonatal care of premature babies, rather than the success of obstetric preventive and therapeutic strategies. This article describes clinical entities, disease processes and conditions that constitute predisposing factors of preterm birth, as well as an outline for the prevention and clinical management of women at risk of preterm birth.

  17. Monitoring antioxidant defenses and free radical production in space-flight, aviation and railway engine operators, for the prevention and treatment of oxidative stress, immunological impairment, and pre-mature cell aging.

    Science.gov (United States)

    De Luca, C; Deeva, I; Mariani, S; Maiani, G; Stancato, A; Korkina, L

    2009-01-01

    Degenerative diseases, immune impairment, and premature ageing commonly affect professional categories exposed to severe environmental and psychological stress. Among these, cosmonauts routinely experience extreme conditions due to microgravity, space radiation, altered oxygen supply, physical and mental fatigue during training, spaceflight, and post-flight. Long route aviation pilots display elevated oncogenic risk, connected with cosmic radiation overexposure, and high mortality rates for cardiovascular causes. Engine drivers, like pilots, are affected by health consequences of psycho-emotional stress, and burnout syndrome. The free radical (FR)/antioxidant (AO) imbalance is a common feature in all these pathological conditions. To assess the effective relevance of oxidative stress, we analyzed blood and urine reliable markers of FR production and AO defenses in 12 Russian cosmonauts, 55 airline pilots, 63 train engine drivers, and 50 age-matched controls by measuring the following: (a) lipophilic/hydrophilic low-molecular weight AO and AO enzyme activities, (b) nitric oxide, superoxide anion, hydroperoxide production, and (c) urinary catecholamine/serotonine metabolites and lipoperoxidation markers. Cosmonauts showed elevated granulocyte superoxide and nitric oxide production, increased erythrocyte superoxide dismutase activity and glutathione oxidation, and drastically decreased plasma/leucocyte lipophilic AO levels (P monitoring of clinical biochemistry laboratory markers of AO/FR status, to tailor individually specific AO supplementation and diet regimen, and monitor treatment outcomes.

  18. Genetics and aging; the Werner syndrome as a segmental progeroid syndrome.

    Science.gov (United States)

    Martin, G M

    1985-01-01

    The maximum lifespan potential is a constitutional feature of speciation and must be subject to polygenic controls acting both in the domain of development and in the domain of the maintenance of macromolecular integrity. The enormous genetic heterogeneity that characterizes our own species, the complexities of numerous nature-nurture interactions, and the quantitative and qualitative variations of the senescent phenotype that are observed suggest that precise patterns of aging in each of us may be unique. Patterns of aging may also differ sharply among species (for example, semelparous vs. multiparous mammals). Some potential common denominators, however, allow one to identify progeroid syndromes in man that could lead to the elucidation of important pathways of gene action. (The suffix "-oid" means "like"; it does not mean identity.) Unimodal progeroid syndromes (eg., familial dementia of the Alzheimer type, an autosomal dominant) can help us understand the pathogenesis of a particular aspect of the senescent phenotype of man. Segmental progeroid syndromes (eg. the Werner syndrome, an autosomal recessive) may be relevant to multiple aspects of the senescent phenotype. Some results of research on the Werner syndrome may be interpreted as support for "peripheral" as opposed to "central" theories of aging; they are consistent with the view that gene action in the domain of development (adolescence, in this instance) can set the stage for patterns of aging in the adult; they point to the importance of mesenchymal cell populations in the pathogenesis of age-related disorders; finally, they underscore the role of chromosomal instability, especially in the pathogenesis of neoplasia.

  19. Age-Related Neurodegeneration and Memory Loss in Down Syndrome

    Directory of Open Access Journals (Sweden)

    Jason P. Lockrow

    2012-01-01

    Full Text Available Down syndrome (DS is a condition where a complete or segmental chromosome 21 trisomy causes variable intellectual disability, and progressive memory loss and neurodegeneration with age. Many research groups have examined development of the brain in DS individuals, but studies on age-related changes should also be considered, with the increased lifespan observed in DS. DS leads to pathological hallmarks of Alzheimer's disease (AD by 40 or 50 years of age. Progressive age-related memory deficits occurring in both AD and in DS have been connected to degeneration of several neuronal populations, but mechanisms are not fully elucidated. Inflammation and oxidative stress are early events in DS pathology, and focusing on these pathways may lead to development of successful intervention strategies for AD associated with DS. Here we discuss recent findings and potential treatment avenues regarding development of AD neuropathology and memory loss in DS.

  20. [The age and sex indicators of mortality of population and years of life lost as a result of premature mortality in the Russian Federation in 2012].

    Science.gov (United States)

    Boiytsov, S A; Samorodskaya, I V

    2014-01-01

    The age-specific mortality coefficients and years of life lost as a result of premature mortality are among important medical demographic characteristics of population health. The study analyzed age and sex indicators of mortality of population in the Russian Federation. The number of years of life lost as a result of premature mortality is calculated. The comparison of values of years of life lost in various subjects of the Russian Federation was carried out. The data of Rosstat concerning population size and number of the deceased in year age groups in the Russian Federation and subjects of the Russian Federation in 2012 was used. The indicator was calculated on the basis of technique included into "The global burden of diseases report" (2010). The minimal indicators of mortality of males are noted at the age of 11 years (25.4 per 100 000 of population) and females at the age of 10 years (18.2 per 100 000 of population). The maximal differences in indicators of mortality of males and females are marked in the age group 20-29 years (314.5 of males and 92.3 of females per 100 000 of population). The percentage of deceased prior 70 years consists 63.2% among males and 29.9% among females. The total number of years of life lost in the Russian Federation consisted 36 864 309 and out of them 24 321 992 (65.9%) as a result of death of males and 12 542 317 (34.1%) as a result of death of females. The maximum percentage of years of life lost among males is marked in the age group of 51-60 years (24.61%) and among females in the age group of 71-80 years (22.38%). The indicator of years of life lost per 100 000 of population consisted 25769 for total population, 36 753 for male population and 16 314 for female population. The highest rate of indicator of years of life lost is marked in the Chukchi Autonomous Okrug and the lowest rate in the Republics of the Northern Caucasus and Moscow. However, in all subjects of the Russian Federation indicator of years of life lost is

  1. Hutchinson-Gilford progeria syndrome

    OpenAIRE

    Amar Singh Bhukya; Bellum Siva Nagi Reddy

    2015-01-01

    Hutchinson-Gilford Progeria syndrome (HGPS) is a rare pediatric genetic syndrome associated with a characteristic aged appearance very early in life, generally leading to death in the second decade of life. Apart from premature aging, the other notable characteristics of children with HGPS include extreme short stature, prominent superficial veins, poor weight gain, alopecia, as well as various skeletal and cardiovascular pathologies associated with advanced age. The pattern of inheritance of...

  2. Influence of Age and Gender in Takotsubo Syndrome.

    Science.gov (United States)

    Schneider, Birke; Sechtem, Udo

    2016-10-01

    Takotsubo syndrome (TTS) occurs predominantly in elderly females but young individuals and children may also be affected. There are no consistent differences between men and women regarding age, symptoms, prehospital delay, or clinical course. Mortality has been reported to be higher in males. The QTc interval may be disproportionately prolonged in male patients in the days after admission predisposing them to ventricular arrhythmias. The higher level of cardiac markers in males with TTS may be related to the greater frequency of physical stress before the onset of TTS. Understanding the pathogenetic background may lead to preventive/therapeutic means against this life-threatening disease. Copyright © 2016 Elsevier Inc. All rights reserved.

  3. A hyperoxic lung injury model in premature rabbits: the influence of different gestational ages and oxygen concentrations.

    Directory of Open Access Journals (Sweden)

    Roberta Munhoz Manzano

    Full Text Available BACKGROUND: Many animal models have been developed to study bronchopulmonary dysplasia (BPD. The preterm rabbit is a low-cost, easy-to-handle model, but it has a high mortality rate in response to the high oxygen concentrations used to induce lung injury. The aim of this study was to compare the mortality rates of two models of hyperoxia-induced lung injury in preterm rabbits. METHODS: Pregnant New Zealand white rabbits were subjected to caesarean section on gestational day 28 or 29 (full term  = 31 days. The premature rabbits in the 28-day gestation group were exposed to room air or FiO₂ ≥95%, and the rabbits in the 29-day gestation group were exposed to room air or FiO₂  = 80% for 11 days. The mean linear intercept (Lm, internal surface area (ISA, number of alveoli, septal thickness and proportion of elastic and collagen fibers were quantified. RESULTS: The survival rates in the 29-day groups were improved compared with the 28-day groups. Hyperoxia impaired the normal development of the lung, as demonstrated by an increase in the Lm, the septal thickness and the proportion of elastic fibers. Hyperoxia also decreased the ISA, the number of alveoli and the proportion of collagen fibers in the 28-day oxygen-exposed group compared with the control 28-day group. A reduced number of alveoli was found in the 29-day oxygen exposed animals compared with the control 29-day group. CONCLUSIONS: The 29-day preterm rabbits had a reduced mortality rate compared with the 28-day preterm rabbits and maintained a reduction in the alveoli number, which is comparable to BPD in humans.

  4. Premature Ventricular Contractions (PVCs)

    Science.gov (United States)

    Diseases and Conditions Premature ventricular contractions (PVCs) By Mayo Clinic Staff Premature ventricular contractions (PVCs) are extra, abnormal heartbeats that begin in one of your heart's two ...

  5. Muscle and Bone Impairment in Children With Marfan Syndrome: Correlation With Age and FBN1 Genotype.

    Science.gov (United States)

    Haine, Elsa; Salles, Jean-Pierre; Khau Van Kien, Philippe; Conte-Auriol, Françoise; Gennero, Isabelle; Plancke, Aurélie; Julia, Sophie; Dulac, Yves; Tauber, Maithé; Edouard, Thomas

    2015-08-01

    Marfan syndrome (MFS) is a rare connective tissue disorder caused by mutation in the gene encoding the extracellular matrix protein fibrillin-1 (FBN1), leading to transforming growth factor-beta (TGF-β) signaling dysregulation. Although decreased axial and peripheral bone mineral density (BMD) has been reported in adults with MFS, data about the evolution of bone mass during childhood and adolescence are limited. The aim of the present study was to evaluate bone and muscle characteristics in children, adolescents, and young adults with MFS. The study population included 48 children and young adults (22 girls) with MFS with a median age of 11.9 years (range 5.3 to 25.2 years). The axial skeleton was analyzed at the lumbar spine using dual-energy X-ray absorptiometry (DXA), whereas the appendicular skeleton (hand) was evaluated using the BoneXpert system (with the calculation of the Bone Health Index). Muscle mass was measured by DXA. Compared with healthy age-matched controls, bone mass at the axial and appendicular levels and muscle mass were decreased in children with MFS and worsened from childhood to adulthood. Vitamin D deficiency (<50 nmol/L) was found in about a quarter of patients. Serum vitamin D levels were negatively correlated with age and positively correlated with lumbar spine areal and volumetric BMD. Lean body mass (LBM) Z-scores were positively associated with total body bone mineral content (TB-BMC) Z-scores, and LBM was an independent predictor of TB-BMC values, suggesting that muscle hypoplasia could explain at least in part the bone loss in MFS. Patients with a FBN1 premature termination codon mutation had a more severe musculoskeletal phenotype than patients with an inframe mutation, suggesting the involvement of TGF-β signaling dysregulation in the pathophysiologic mechanisms. In light of these results, we recommend that measurement of bone mineral status should be part of the longitudinal clinical investigation of MFS children.

  6. Inactivation of RAD52 and HDF1 DNA repair genes leads to premature chronological aging and cellular instability

    Indian Academy of Sciences (India)

    SILVIA MERCADO-SÁENZ; BEATRIZ LÓPEZ-DÍAZ; FRANCISCO SENDRA-PORTERO; MANUEL MARTÍNEZ-MORILLO; MIGUEL J RUIZ-GÓMEZ

    2017-06-01

    The present study aims to investigate the role of radiation sensitive 52 (RAD52) and high-affinity DNA binding factor1 (HDF1) DNA repair genes on the life span of budding yeasts during chronological aging. Wild type (wt) and rad52,hdf1, and rad52 hdf1 mutant Saccharomyces cerevisiae strains were used. Chronological aging and survival assayswere studied by clonogenic assay and drop test. DNA damage was analyzed by electrophoresis after phenol extraction.Mutant analysis, colony forming units and the index of respiratory competence were studied by growing on dextroseand glycerol plates as a carbon source. Rad52 and rad52 hdf1 mutants showed a gradual decrease in surviving fractionin relation to wt and hdf1 mutant during aging. Genomic DNA was spontaneously more degraded during aging,mainly in rad52 mutants. This strain showed an increased percentage of revertant colonies. Moreover, all mutantsshowed a decrease in the index of respiratory competence during aging. The inactivation of RAD52 leads to prematurechronological aging with an increase in DNA degradation and mutation frequency. In addition, RAD52 and HDF1contribute to maintain the metabolic state, in a different way, during chronological aging. The results obtained couldhave important implications in the chronobiology of aging.

  7. Premature ejaculation

    Directory of Open Access Journals (Sweden)

    Chris G McMahon

    2007-01-01

    Full Text Available Premature ejaculation (PE is a common male sexual disorder. Recent normative data suggests that men with an intravaginal ejaculatory latency time (IELT of less than 1 minute have "definite" PE, while men with IELTs between 1 and 1.5 minutes have "probable" PE. Although there is insufficient empirical evidence to identify the etiology of PE, there is limited correlational evidence to suggest that men with PE have high levels of sexual anxiety and inherited altered sensitivity of central 5-HT (5-hydroxytryptamine, serotonin receptors. Pharmacological modulation of the ejaculatory threshold using off-label daily or on-demand selective serotonin re-uptake inhibitors is well tolerated and offers patients a high likelihood of achieving improved ejaculatory control within a few days of initiating treatment, consequential improvements in sexual desire and other sexual domains. Investigational drugs such as the ejaculo-selective serotonin transport inhibitor, dapoxetine represent a major development in sexual medicine. These drugs offer patients the convenience of on-demand dosing, significant improvements in IELT, ejaculatory control and sexual satisfaction with minimal adverse effects.

  8. Premature ejaculation.

    Science.gov (United States)

    McMahon, Chris G

    2007-04-01

    Premature ejaculation (PE) is a common male sexual disorder. Recent normative data suggests that men with an intravaginal ejaculatory latency time (IELT) of less than 1 minute have "definite" PE, while men with IELTs between 1 and 1.5 minutes have "probable" PE. Although there is insufficient empirical evidence to identify the etiology of PE, there is limited correlational evidence to suggest that men with PE have high levels of sexual anxiety and inherited altered sensitivity of central 5-HT (5-hydroxytryptamine, serotonin) receptors. Pharmacological modulation of the ejaculatory threshold using off-label daily or on-demand selective serotonin re-uptake inhibitors is well tolerated and offers patients a high likelihood of achieving improved ejaculatory control within a few days of initiating treatment, consequential improvements in sexual desire and other sexual domains. Investigational drugs such as the ejaculo-selective serotonin transport inhibitor, dapoxetine represent a major development in sexual medicine. These drugs offer patients the convenience of on-demand dosing, significant improvements in IELT, ejaculatory control and sexual satisfaction with minimal adverse effects.

  9. Papillon-Lefevre syndrome: A case report

    Directory of Open Access Journals (Sweden)

    Subramaniam P

    2008-01-01

    Full Text Available Papillon-Lefevre syndrome is a rare autosomal recessive genetic disorder. The clinical manifestations include palmer planter hyperkeratosis with precocious progressive periodontal disease that results in premature exfoliation of primary and permanent dentitions. Patients are often edentulous at an early age. This is a case report of prosthodontic rehabilitation of a 15-year-old girl with Papillon-Lefevre syndrome.

  10. Premature menopause linked to CVD and osteoporosis.

    Science.gov (United States)

    Park, Claire; Overton, Caroline

    2010-03-01

    Premature menopause affects 1% of women under the age of 40, the usual age of the menopause is 51. Most women will present with irregular periods or no periods at all with or without climacteric symptoms. Around 10% of women present with primary amenorrhoea. A careful history and examination are required. It is important to ask specifically about previous chemotherapy or radiotherapy and to look for signs of androgen excess e.g. polycystic ovarian syndrome, adrenal problems e.g. galactorrhoea and thyroid goitres. Once pregnancy has been excluded, a progestagen challenge test can be performed in primary care. Norethisterone 5 mg tds po for ten days or alternatively medroxyprogesterone acetate 10 mg daily for ten days is prescribed. A withdrawal bleed within a few days of stopping the norethisterone indicates the presence of oestrogen and bleeding more than a few drops is considered a positive withdrawal bleed. The absence of a bleed indicates low levels of oestrogen, putting the woman at risk of CVD and osteoporosis. FSH levels above 30 IU/l are an indicator that the ovaries are failing and the menopause is approaching or has occurred. It should be remembered that FSH levels fluctuate during the month and from one month to the next, so a minimum of two measurements should be made at least four to six weeks apart. The presence of a bleed should not exclude premature menopause as part of the differential diagnosis as there can be varying and unpredictable ovarian function remaining. The progestagen challenge test should not be used alone, but in conjunction with FSH, LH and oestradiol. There is no treatment for premature menopause. Women desiring pregnancy should be referred to a fertility clinic and discussion of egg donation. Women not wishing to become pregnant should be prescribed HRT until the age of 50 to control symptoms of oestrogen deficiency and reduce the risks of osteoporosis and CVD.

  11. Relative research between premature coronary syndromes and C-reactive protein, serum uric acid%早发冠心病中医证型与C反应蛋白、血尿酸相关性研究

    Institute of Scientific and Technical Information of China (English)

    于素甫江·苏来曼; 王娟; 张丽丽

    2014-01-01

    目的:探讨早发冠心病(premature coronary heart disease,PCHD)中医证型与C反应蛋白(CRP)及血尿酸(UA)的相关性。方法:196例经冠状动脉造影确诊为冠心病的患者(男0.05)。②血尿酸含量比较:与健康对照组相比,PCHD组血浆UA含量明显增高,差异有统计学意义(P0.05)。结论:CRP水平与PCHD中医证型存在相关性,可作为PCHD中医辨证分型辅助诊断的客观指标。%Objective:To observe the relationship between premature coronary syndromes and C-reactive protein, serum uric acid. Methods:196 patients were divided into 58 cases of Xinxue Yuzhu syndrome, 55 cases of Tanzhuo Bizu syndrome, 83 cases of Feitan yu syndrome. 57 patients were selected as control group. Results: ①CRP content was higher with stastical difference in PCHD group (P0.05); ②Blood UA content was obviously higher in PCHD group with stastical difference (P0.05). Conclusion:There is a relationship between premature coronary syndromes and C-reactive protein, serum uric acid and can be used as a index for TCM differentiation.

  12. Reversible cell cycle inhibition and premature aging features imposed by conditional expression of p16Ink4a

    Science.gov (United States)

    Boquoi, Amelie; Arora, Sanjeevani; Chen, Tina; Litwin, Sam; Koh, James; Enders, Greg H

    2015-01-01

    The cyclin-dependent kinase (Cdk) inhibitor p16Ink4a (p16) is a canonical mediator of cellular senescence and accumulates in aging tissues, where it constrains proliferation of some progenitor cells. However, whether p16 induction in tissues is sufficient to inhibit cell proliferation, mediate senescence, and/or impose aging features has remained unclear. To address these issues, we generated transgenic mice that permit conditional p16 expression. Broad induction at weaning inhibited proliferation of intestinal transit-amplifying and Lgr5+ stem cells and rapidly imposed features of aging, including hair loss, skin wrinkling, reduced body weight and subcutaneous fat, an increased myeloid fraction in peripheral blood, poor dentition, and cataracts. Aging features were observed with multiple combinations of p16 transgenes and transactivators and were largely abrogated by a germline Cdk4 R24C mutation, confirming that they reflect Cdk inhibition. Senescence markers were not found, and de-induction of p16, even after weeks of sustained expression, allowed rapid recovery of intestinal cell proliferation and reversal of aging features in most mice. These results suggest that p16-mediated inhibition of Cdk activity is sufficient to inhibit cell proliferation and impose aging features in somatic tissues of mammals and that at least some of these aging features are reversible. PMID:25481981

  13. Normal ageing in adults with Down's syndrome: a longitudinal study.

    Science.gov (United States)

    Devenny, D A; Silverman, W P; Hill, A L; Jenkins, E; Sersen, E A; Wisniewski, K E

    1996-06-01

    The ubiquitous presence of the neuropathology of Alzheimer disease (AD) in individuals with Down's syndrome (DS) over 40 years of age suggests that this group of people will exhibit a high prevalence of dementia of the Alzheimer type (DAT) as they age. The present study indicates that there is a clear discrepancy between the presumed presence of AD neuropathology and the clinical expression of DAT among older people with DS. In the first 6 years of a longitudinal study, the present authors compared 91 adults (31-63 years of age) with DS and mild or moderate mental retardation to 64 adults (31-76 years of age) with other forms of mental retardation (MR) on yearly measures of mental status, short- and long-term memory, speeded psychomotor function, and visuospatial organization. The results indicated that, over repeated testing on the verbal long-term memory test, younger participants with DS showed small increases in their scores, while older participants with DS showed very slight decreases. Overall performance scores on this test and a speeded psychomotor task were poorer for both diagnostic groups in individuals aged 50 years and older. The magnitude and type of these selective changes in performance were consistent with performance profiles observed in older healthy adults without mental retardation on tests measuring similar cognitive functions. Only four out of the 91 people with DS in the present sample showed changes in functioning that have led to a diagnosis of possible DAT, and in these individuals, alternative causes of performance declines were concurrently present (e.g. thyroid dysfunction). These findings indicate that some age-associated changes in functioning are related to "normal' but probably precocious ageing among adults with DS. Furthermore, these findings suggest that adults with DS and mild or moderate mental retardation may be at lower risk for dementia during their fourth and fifth decades of life than previous studies have suggested.

  14. Down syndrome as a model of DNA polymerase beta haploinsufficiency and accelerated aging.

    Science.gov (United States)

    Patterson, David; Cabelof, Diane C

    2012-04-01

    Down syndrome is a condition of intellectual disability characterized by accelerated aging. As with other aging syndromes, evidence accumulated over the past several decades points to a DNA repair defect inherent in Down syndrome. This evidence has led us to suggest that Down syndrome results in reduced DNA base excision repair (BER) capacity, and that this contributes to the genomic instability and the aging phenotype of Down syndrome. We propose important roles for microRNA and/or folate metabolism and oxidative stress in the dysregulation of BER in Down syndrome. Further, we suggest these pathways are involved in the leukemogenesis of Down syndrome. We have reviewed the role of BER in the processing of oxidative stress, and the impact of folate depletion on BER capacity. Further, we have reviewed the role that loss of BER, specifically DNA polymerase beta, plays in accelerating the rate of aging. Like that seen in the DNA polymerase beta heterozygous mouse, the aging phenotype of Down syndrome is subtle, unlike the aging phenotypes seen in the classical progeroid syndromes and mouse models of aging. As such, Down syndrome may provide a model for elucidating some of the basic mechanisms of aging.

  15. Leisure Activity and Caregiver Involvement in Middle-Aged and Older Adults with Down Syndrome

    Science.gov (United States)

    Mihaila, Iulia; Hartley, Sigan L.; Handen, Benjamin L.; Bulova, Peter D.; Tumuluru, Rameshwari V.; Devenny, Darlynne A.; Johnson, Sterling C.; Lao, Patrick J.; Christian, Bradley, T.

    2017-01-01

    The present study examined leisure activity and its association with caregiver involvement (i.e., residence and time spent with primary caregiver) in 62 middle-aged and older adults with Down syndrome (aged 30-53 years). Findings indicated that middle-aged and older adults with Down syndrome frequently participated in social and passive leisure…

  16. Acute coronary syndrome in women of reproductive age

    Directory of Open Access Journals (Sweden)

    Idris N

    2011-11-01

    Full Text Available Nazimah Idris1, Sharifah Sulaiha Aznal1, Sze-Piaw Chin1, Wan Azman Wan Ahmad2, Azhari Rosman3, Sinnadurai Jeyaindran4, Omar Ismail5, Robaayah Zambahari3, Kui Huan Sim6 1International Medical University, Seremban; 2University Malaya Medical Centre, PJ; 3Institut Jantung Negara, KL; 4Hospital Kuala Lumpur, KL; 5Hospital Pulau Pinang; 6Hospital Umum Sarawak, Malaysia Background: There is scarce or no data on prevalence and presentation of acute coronary syndrome (ACS among women of reproductive age. Furthermore, whether women of reproductive age presenting with ACS have the same risk factors as men and older women is not known. Objective: To analyze factors associated with ACS in women of reproductive age in comparison with older women and men of a similar age group. Methodology: A total of 9702 cases of acute coronary syndrome over a 3-year period (2006–2008 from the National Cardiovascular Disease database were analyzed, with focus on women of reproductive age (20–<40 years, looking into association with ethnicity, comorbid illness, and the ACS stratum. Comparison with older women (40–<60 years; Control 1 and men of similar age group (Control 2 was made and analyzed using Fisher's exact test and chi-square test when necessary. Results: From a total of 9702 cases, 2344 (24.2% were women. Of these, 45 (1.9% were women between 20 and <40 years, which is significantly lower than the two controls (older women 30.8%, and men of same age 6.2%, respectively; P < 0.0001. The distribution of ethnicity shows a similar pattern between the study group and the controls, but patients of Indian ethnicity were over-represented when compared with the Malaysian demographics of general population (31.3% versus 7.1%; P < 0.0001. ACS in women of reproductive age was associated with diabetes mellitus in 37.8%, hypertension in 40.0%, and dyslipidemia in 24.4% of cases, similar to men of the same age but significantly lower than the older women (P < 0.0001. Smoking

  17. Loss of the bloom syndrome helicase increases DNA ligase 4-independent genome rearrangements and tumorigenesis in aging Drosophila.

    Science.gov (United States)

    Garcia, Ana Maria; Salomon, Robert N; Witsell, Alice; Liepkalns, Justine; Calder, R Brent; Lee, Moonsook; Lundell, Martha; Vijg, Jan; McVey, Mitch

    2011-12-19

    The BLM DNA helicase plays a vital role in maintaining genome stability. Mutations in BLM cause Bloom syndrome, a rare disorder associated with cancer predisposition and premature aging. Humans and mice with blm mutations have increased frequencies of spontaneous mutagenesis, but the molecular basis of this increase is not well understood. In addition, the effect of aging on spontaneous mutagenesis in blm mutants has not been characterized. To address this, we used a lacZ reporter system in wild-type and several mutant strains of Drosophila melanogaster to analyze mechanisms of mutagenesis throughout their lifespan. Our data show that Drosophila lacking BLM have an elevated frequency of spontaneous genome rearrangements that increases with age. Although in normal flies most genome rearrangements occur through DNA ligase 4-dependent classical end joining, most rearrangements that accumulate during aging in blm mutants do not require DNA ligase 4, suggesting the influence of an alternative end-joining mechanism. Adult blm mutants also display reduced lifespan and ligase 4-independent enhanced tumorigenesis in mitotically active tissues. These results suggest that Drosophila BLM suppresses error-prone alternative end-joining repair of DNA double-strand breaks that can result in genome instability and tumor formation during aging. In addition, since loss of BLM significantly affects lifespan and tumorigenesis, the data provide a link between error-prone end joining, genome rearrangements, and tumor formation in a model metazoan.

  18. CEREBROCARDIAC SYNDROME ON PATIENTS OF OVER SEVENTY AGE AND EEG STUDY

    Institute of Scientific and Technical Information of China (English)

    LIU Mingshun; MEI Fengjun; LI Fengluan; LIU Qingrui; GU Lanjie

    2005-01-01

    Objectives: To observe cerebrocardiac syndrome on patients of the over seventy age and it's change of EEG. Methods: Brain CT and ECG were examined in 50 patients of the over seventy age with cerebrocardiac syndrome. Results: There were obvious changes in the brain CT and ECG. Conclusion:There were obvious changes of brain CT and ECG in cerebrocardiac syndrome of over seventy age patients.

  19. Clinical Presentation of Klinefelter's Syndrome: Differences According to Age

    Directory of Open Access Journals (Sweden)

    Néstor Pacenza

    2012-01-01

    Full Text Available The aim of the study was to establish the characteristics of presentation of 94 patients with Kinelfelter's syndrome (KS referred to the endocrinologist at different ages. The diagnosis of KS was more frequent in the age group between 11 and 20 years (46.8%. Most of the patients (83.7% showed the classic 47,XXY karyotype and 7.1% showed a 47,XXY/46,XY mosaicism. Half of the patients younger than 18 years presented mild neurodevelopmental disorders. The most frequent clinical findings were cryptorchidism in prepubertal patients, and small testes, cryptorchidism, and gynecomastia in pubertal patients. FSH, LH, AMH, and inhibin B levels were normal in prepubertal patients and became abnormal from midpuberty. Most adults were referred for small testes, infertility, and gynecomastia; 43.6% had sexual dysfunction. Testosterone levels were low in 45%. Mean stature was above the 50th percentile, and 62.5% had BMI ≥25.0 kg/m2. In conclusion, the diagnosis of Klinefelter syndrome seems to be made earlier nowadays probably because pediatricians are more aware that boys and adolescents with neuro-developmental disorders and cryptorchidism are at increased risk. The increasing use of prenatal diagnosis has also decreased the mean age at diagnosis and allowed to get insight into the evolution of previously undiagnosed cases, which probably represent the mildest forms. In adults average height and weight are slightly higher than those in the normal population. Bone mineral density is mildly affected, more at the spine than at the femoral neck level, in less than half of cases.

  20. Clinical Presentation of Klinefelter's Syndrome: Differences According to Age

    Science.gov (United States)

    Pacenza, Néstor; Pasqualini, Titania; Gottlieb, Silvia; Knoblovits, Pablo; Costanzo, Pablo R.; Stewart Usher, Jorge; Rey, Rodolfo A.; Martínez, María P.; Aszpis, Sergio

    2012-01-01

    The aim of the study was to establish the characteristics of presentation of 94 patients with Kinelfelter's syndrome (KS) referred to the endocrinologist at different ages. The diagnosis of KS was more frequent in the age group between 11 and 20 years (46.8%). Most of the patients (83.7%) showed the classic 47,XXY karyotype and 7.1% showed a 47,XXY/46,XY mosaicism. Half of the patients younger than 18 years presented mild neurodevelopmental disorders. The most frequent clinical findings were cryptorchidism in prepubertal patients, and small testes, cryptorchidism, and gynecomastia in pubertal patients. FSH, LH, AMH, and inhibin B levels were normal in prepubertal patients and became abnormal from midpuberty. Most adults were referred for small testes, infertility, and gynecomastia; 43.6% had sexual dysfunction. Testosterone levels were low in 45%. Mean stature was above the 50th percentile, and 62.5% had BMI ≥25.0 kg/m2. In conclusion, the diagnosis of Klinefelter syndrome seems to be made earlier nowadays probably because pediatricians are more aware that boys and adolescents with neuro-developmental disorders and cryptorchidism are at increased risk. The increasing use of prenatal diagnosis has also decreased the mean age at diagnosis and allowed to get insight into the evolution of previously undiagnosed cases, which probably represent the mildest forms. In adults average height and weight are slightly higher than those in the normal population. Bone mineral density is mildly affected, more at the spine than at the femoral neck level, in less than half of cases. PMID:22291701

  1. Bloom syndrome in short children born small for gestational age: A challenging diagnosis

    NARCIS (Netherlands)

    J.S. Renes (Judith); R.H. Willemsen (Ruben); A. Wagner (Anja); M.J. Finken (Martijn); A.C.S. Hokken-Koelega (Anita)

    2013-01-01

    textabstractBackground: GH treatment has become a frequently applied growth-promoting therapy in short children born small for gestational age (SGA). In some disorders GH treatment is contraindicated, eg, chromosomal breakage syndromes. Bloom syndrome is a rare chromosomal breakage syndrome characte

  2. Bloom syndrome in short children born small for gestational age: A challenging diagnosis

    NARCIS (Netherlands)

    J.S. Renes (Judith); R.H. Willemsen (Ruben); A. Wagner (Anja); M.J. Finken (Martijn); A.C.S. Hokken-Koelega (Anita)

    2013-01-01

    textabstractBackground: GH treatment has become a frequently applied growth-promoting therapy in short children born small for gestational age (SGA). In some disorders GH treatment is contraindicated, eg, chromosomal breakage syndromes. Bloom syndrome is a rare chromosomal breakage syndrome characte

  3. [Forensic importance of premature craniosynostosis].

    Science.gov (United States)

    Fehlow, P

    1991-01-01

    In agreement with Canabis craniosynostosis as a little known organic partial factor of sociopathy is demonstrated. A psychic syndrome of the frontal lobe with increased susceptibility in environmental damages is assumed to be basic disorder. In the criminals of the material sexual offenders were preponderating. Associated craniofacial dysplasias are a risk for psychic maldevelopment. The importance of premature craniosynostocis as a biological risk factor, incidence, diagnostic, indication for an operation, also in the meaning of a neurosurgical "Konflikttherapie" (cosmetical indication) are discussed.

  4. Respiratory Failure in Premature Babies Born from Multiple Pregnancy

    Directory of Open Access Journals (Sweden)

    S. A. Perepelitsa

    2010-01-01

    Full Text Available Objective: to reveal the factors that are responsible for the development of respiratory distress syndrome (RDS and the specific features of its course in preterm twin neonates. Subjects and methods. Twenty-three patients who had had twin pregnancy, including 9 (39.1% and 14 (60% with monochorial and bichorial biamniotic twin pregnancies, respectively, were examined. Their mean age was 28.5±5.4 years. Obstetric and gynecologic histories, conditions at conception, the course of pregnancy, the type of pla-centation, and fetal presentation were considered. The placentas were morphologically examined. In all the patients, pregnancy ended in birth of 46 premature neonates, of them there were 19 (41.3% boys and 27 (58.7% girls. The gestational age of the neonates averaged 31.7±2.3 weeks. The evaluation of the efficiency of performed therapy used clinical assessment of the status of the premature neonates; measurement of partial oxygen tension (pO2 and calculation of alveolar-arterial oxygen gradient (A-a DO2, respiratory index (RI, and oxygenation index (OI; death rates were analyzed. Results. The main cause of respiratory failure (RF was RDS in premature twins. Neonatal blood aspiration-caused pneumonia occurred in one case. The course of RDS was variable. Most neonatal infants needed exogenous surfactant replacement therapy and mechanical ventilation (MV. No signs of RF were present in 7 (15.2% premature neonates. Conclusion. Premature twins are a high RDS risk group. The unfavorable factors that contribute to the development of the disease are multiple pregnancy, a past maternal obstetric history, in-vitro fertilization-induced pregnancy, severe gestosis in the second half of pregnancy, and preterm delivery. The type of placentation affects the fetal status after birth. Fatal outcome occurred in infants from the monochorial bioamniotic twins. In multiple pregnancies, there are pathological changes in the placenta, its membranes, and umbilical

  5. News of cognitive cure for age-related brain shrinkage is premature: a comment on Burgmans et al. (2009).

    Science.gov (United States)

    Raz, Naftali; Lindenberger, Ulman

    2010-03-01

    The extant longitudinal literature consistently supports the notion of age-related declines in human brain volume. In a report on a longitudinal cognitive follow-up with cross-sectional brain measurements, Burgmans and colleagues (2009) claim that the extant studies overestimate brain volume declines, presumably due to inclusion of participants with preclinical cognitive pathology. Moreover, the authors of the article assert that such declines are absent among optimally healthy adults who maintain cognitive stability for several years. In this comment accompanied by reanalysis of previously published data, we argue that these claims are incorrect on logical, methodological, and empirical grounds.

  6. Genome-wide linkage in a highly consanguineous pedigree reveals two novel loci on chromosome 7 for non-syndromic familial Premature Ovarian Failure.

    Directory of Open Access Journals (Sweden)

    Sandrine Caburet

    Full Text Available BACKGROUND: The human condition known as Premature Ovarian Failure (POF is characterized by loss of ovarian function before the age of 40. A majority of POF cases are sporadic, but 10-15% are familial, suggesting a genetic origin of the disease. Although several causal mutations have been identified, the etiology of POF is still unknown for about 90% of the patients. METHODOLOGY/PRINCIPAL FINDINGS: We report a genome-wide linkage and homozygosity analysis in one large consanguineous Middle-Eastern POF-affected family presenting an autosomal recessive pattern of inheritance. We identified two regions with a LOD(max of 3.26 on chromosome 7p21.1-15.3 and 7q21.3-22.2, which are supported as candidate regions by homozygosity mapping. Sequencing of the coding exons and known regulatory sequences of three candidate genes (DLX5, DLX6 and DSS1 included within the largest region did not reveal any causal mutations. CONCLUSIONS/SIGNIFICANCE: We detect two novel POF-associated loci on human chromosome 7, opening the way to the identification of new genes involved in the control of ovarian development and function.

  7. The Use of Mouse Models for Understanding the Biology of Down Syndrome and Aging

    OpenAIRE

    Vacano, Guido N.; Nathan Duval; David Patterson

    2012-01-01

    Down syndrome is a complex condition caused by trisomy of human chromosome 21. The biology of aging may be different in individuals with Down syndrome; this is not well understood in any organism. Because of its complexity, many aspects of Down syndrome must be studied either in humans or in animal models. Studies in humans are essential but are limited for ethical and practical reasons. Fortunately, genetically altered mice can serve as extremely useful models of Down syndrome, and progress ...

  8. Accumulation of Mutant Lamin A Causes Progressive Changes in Nuclear Architecture in Hutchinson-Gilford Progeria Syndrome

    National Research Council Canada - National Science Library

    Robert D. Goldman; Dale K. Shumaker; Michael R. Erdos; Maria Eriksson; Anne E. Goldman; Leslie B. Gordon; Yosef Gruenbaum; Satya Khuon; Melissa Mendez; Renée Varga; Francis S. Collins

    2004-01-01

    Hutchinson-Gilford progeria syndrome (HGPS) is a premature aging disorder, commonly caused by a point mutation in the lamin A gene that results in a protein lacking 50 aa near the C terminus, denoted LAΔ50...

  9. Altered Nuclear Functions in Progeroid Syndromes: a Paradigm for Aging Research

    Directory of Open Access Journals (Sweden)

    Baomin Li

    2009-01-01

    Full Text Available Syndromes of accelerated aging could provide an entry point for identifying and dissecting the cellular pathways that are involved in the development of age-related pathologies in the general population. However, their usefulness for aging research has been controversial, as it has been argued that these diseases do not faithfully reflect the process of natural aging. Here we review recent findings on the molecular basis of two progeroid diseases, Werner syndrome (WS and Hutchinson-Gilford progeria syndrome (HGPS, and highlight functional connections to cellular processes that may contribute to normal aging.

  10. Altered nuclear functions in progeroid syndromes: a paradigm for aging research.

    Science.gov (United States)

    Li, Baomin; Jog, Sonali; Candelario, Jose; Reddy, Sita; Comai, Lucio

    2009-12-16

    Syndromes of accelerated aging could provide an entry point for identifying and dissecting the cellular pathways that are involved in the development of age-related pathologies in the general population. However, their usefulness for aging research has been controversial, as it has been argued that these diseases do not faithfully reflect the process of natural aging. Here we review recent findings on the molecular basis of two progeroid diseases, Werner syndrome (WS) and Hutchinson-Gilford progeria syndrome (HGPS), and highlight functional connections to cellular processes that may contribute to normal aging.

  11. Cerebrovascular contributions to aging and Alzheimer's disease in Down syndrome.

    Science.gov (United States)

    Wilcock, Donna M; Schmitt, Frederick A; Head, Elizabeth

    2016-05-01

    Down syndrome (DS) is a common cause of intellectual disability and is also associated with early age of onset of Alzheimer's disease (AD). Due to an extra copy of chromosome 21, most adults over 40years old with DS have beta-amyloid plaques as a result of overexpression of the amyloid precursor protein. Cerebrovascular pathology may also be a significant contributor to neuropathology observed in the brains of adults with DS. This review describes the features of cardiovascular dysfunction and cerebrovascular pathology in DS that may be modifiable risk factors and thus targets for interventions. We will describe cerebrovascular pathology, the role of co-morbidities, imaging studies indicating vascular pathology and the possible consequences. It is clear that our understanding of aging and AD in people with DS will benefit from further studies to determine the role that cerebrovascular dysfunction contributes to cognitive health. This article is part of a Special Issue entitled: Vascular Contributions to Cognitive Impairment and Dementia edited by M. Paul Murphy, Roderick A. Corriveau and Donna M. Wilcock.

  12. Inhibition of Mitochondrial Cytochrome c Release and Suppression of Caspases by Gamma-Tocotrienol Prevent Apoptosis and Delay Aging in Stress-Induced Premature Senescence of Skin Fibroblasts

    Directory of Open Access Journals (Sweden)

    Suzana Makpol

    2012-01-01

    Full Text Available In this study, we determined the molecular mechanism of γ-tocotrienol (GTT in preventing cellular aging by focusing on its anti-apoptotic effect in stress-induced premature senescence (SIPS model of human diploid fibroblasts (HDFs. Results obtained showed that SIPS exhibited senescent-phenotypic characteristic, increased expression of senescence-associated β-galactosidase (SA β-gal and promoted G0/G1 cell cycle arrest accompanied by shortening of telomere length with decreased telomerase activity. Both SIPS and senescent HDFs shared similar apoptotic changes such as increased Annexin V-FITC positive cells, increased cytochrome c release and increased activation of caspase-9 and caspase-3 (P<0.05. GTT treatment resulted in a significant reduction of Annexin V-FITC positive cells, inhibited cytochrome c release and decreased activation of caspase-9 and caspase-3 (P<0.05. Gene expression analysis showed that GTT treatment down regulated BAX mRNA, up-regulated BCL2A1 mRNA and decreased the ratio of Bax/Bcl-2 protein expression (P<0.05 in SIPS. These findings suggested that GTT inhibits apoptosis by modulating the upstream apoptosis cascade, causing the inhibition of cytochrome c release from the mitochondria with concomitant suppression of caspase-9 and caspase-3 activation. In conclusion, GTT delays cellular senescence of human diploid fibroblasts through the inhibition of intrinsic mitochondria-mediated pathway which involved the regulation of pro- and anti-apoptotic genes and proteins.

  13. Clinical presentation of Attenuated Psychosis Syndrome in children and adolescents : Is there an age effect?

    NARCIS (Netherlands)

    Ribolsi, Michele; Lin, Ashleigh; Wardenaar, Klaas J; Pontillo, Maria; Mazzone, Luigi; Vicari, Stefano; Armando, Marco

    2017-01-01

    There is limited research on clinical features related to age of presentation of the Attenuated Psychosis Syndrome in children and adolescents (CAD). Based on findings in CAD with psychosis, we hypothesized that an older age at presentation of Attenuated Psychosis Syndrome would be associated with l

  14. Variability of the Aging Process in Dementia-Free Adults with Down Syndrome

    Science.gov (United States)

    Tsao, Raphaele; Kindelberger, Cecile; Freminville, Benedicte; Touraine, Renaud; Bussey, Gerald

    2015-01-01

    The aim of this cross-sectional study was to analyze the typical aging process in adults with Down syndrome, focusing on its variability. The sample comprised 120 adults with Down syndrome who were free of dementia. Ages ranged from 20 to 69 years. Each participant was assessed on cognitive functioning and social adaptation, and was checked for…

  15. Clinical presentation of Attenuated Psychosis Syndrome in children and adolescents: Is there an age effect?

    Science.gov (United States)

    Ribolsi, Michele; Lin, Ashleigh; Wardenaar, Klaas J; Pontillo, Maria; Mazzone, Luigi; Vicari, Stefano; Armando, Marco

    2017-03-01

    There is limited research on clinical features related to age of presentation of the Attenuated Psychosis Syndrome in children and adolescents (CAD). Based on findings in CAD with psychosis, we hypothesized that an older age at presentation of Attenuated Psychosis Syndrome would be associated with less severe symptoms and better psychosocial functioning than presentation in childhood or younger adolescence. Ninety-four CAD (age 9-18) meeting Attenuated Psychosis Syndrome criteria participated in the study. The sample was divided and compared according to the age of presentation of Attenuated Psychosis Syndrome (9-14 vs 15-18 years). The predictive value of age of Attenuated Psychosis Syndrome presentation was investigated using receiver operating characteristic (ROC)-curve calculations. The two Attenuated Psychosis Syndrome groups were homogeneous in terms of gender distribution, IQ scores and comorbid diagnoses. Older Attenuated Psychosis Syndrome patients showed better functioning and lower depressive scores. ROC curves revealed that severity of functional impairment was best predicted using an age of presentation cut-off of 14.9 years for social functioning and 15.9 years for role functioning. This study partially confirmed our hypothesis; older age at presentation of Attenuated Psychosis Syndrome was associated with less functional impairment, but age was not associated with psychotic symptoms.

  16. Variability of the Aging Process in Dementia-Free Adults with Down Syndrome

    Science.gov (United States)

    Tsao, Raphaele; Kindelberger, Cecile; Freminville, Benedicte; Touraine, Renaud; Bussey, Gerald

    2015-01-01

    The aim of this cross-sectional study was to analyze the typical aging process in adults with Down syndrome, focusing on its variability. The sample comprised 120 adults with Down syndrome who were free of dementia. Ages ranged from 20 to 69 years. Each participant was assessed on cognitive functioning and social adaptation, and was checked for…

  17. Room temperature housing results in premature cancellous bone loss in growing female mice: implications for the mouse as a preclinical model for age-related bone loss.

    Science.gov (United States)

    Iwaniec, U T; Philbrick, K A; Wong, C P; Gordon, J L; Kahler-Quesada, A M; Olson, D A; Branscum, A J; Sargent, J L; DeMambro, V E; Rosen, C J; Turner, R T

    2016-10-01

    Room temperature housing (22 °C) results in premature cancellous bone loss in female mice. The bone loss was prevented by housing mice at thermoneutral temperature (32 °C). Thermogenesis differs markedly between mice and humans and mild cold stress induced by standard room temperature housing may introduce an unrecognized confounding variable into preclinical studies. Female mice are often used as preclinical models for osteoporosis but, in contrast to humans, mice exhibit cancellous bone loss during growth. Mice are routinely housed at room temperature (18-23 °C), a strategy that exaggerates physiological differences in thermoregulation between mice (obligatory daily heterotherms) and humans (homeotherms). The purpose of this investigation was to assess whether housing female mice at thermoneutral (temperature range where the basal rate of energy production is at equilibrium with heat loss) alters bone growth, turnover and microarchitecture. Growing (4-week-old) female C57BL/6J and C3H/HeJ mice were housed at either 22 or 32 °C for up to 18 weeks. C57BL/6J mice housed at 22 °C experienced a 62 % cancellous bone loss from the distal femur metaphysis during the interval from 8 to 18 weeks of age and lesser bone loss from the distal femur epiphysis, whereas cancellous and cortical bone mass in 32 °C-housed mice were unchanged or increased. The impact of thermoneutral housing on cancellous bone was not limited to C57BL/6J mice as C3H/HeJ mice exhibited a similar skeletal response. The beneficial effects of thermoneutral housing on cancellous bone were associated with decreased Ucp1 gene expression in brown adipose tissue, increased bone marrow adiposity, higher rates of bone formation, higher expression levels of osteogenic genes and locally decreased bone resorption. Housing female mice at 22 °C resulted in premature cancellous bone loss. Failure to account for species differences in thermoregulation may seriously confound interpretation of studies

  18. Stochastic simulations of normal aging and Werner's syndrome.

    KAUST Repository

    Qi, Qi

    2014-04-26

    Human cells typically consist of 23 pairs of chromosomes. Telomeres are repetitive sequences of DNA located at the ends of chromosomes. During cell replication, a number of basepairs are lost from the end of the chromosome and this shortening restricts the number of divisions that a cell can complete before it becomes senescent, or non-replicative. In this paper, we use Monte Carlo simulations to form a stochastic model of telomere shortening to investigate how telomere shortening affects normal aging. Using this model, we study various hypotheses for the way in which shortening occurs by comparing their impact on aging at the chromosome and cell levels. We consider different types of length-dependent loss and replication probabilities to describe these processes. After analyzing a simple model for a population of independent chromosomes, we simulate a population of cells in which each cell has 46 chromosomes and the shortest telomere governs the replicative potential of the cell. We generalize these simulations to Werner\\'s syndrome, a condition in which large sections of DNA are removed during cell division and, amongst other conditions, results in rapid aging. Since the mechanisms governing the loss of additional basepairs are not known, we use our model to simulate a variety of possible forms for the rate at which additional telomeres are lost per replication and several expressions for how the probability of cell division depends on telomere length. As well as the evolution of the mean telomere length, we consider the standard deviation and the shape of the distribution. We compare our results with a variety of data from the literature, covering both experimental data and previous models. We find good agreement for the evolution of telomere length when plotted against population doubling.

  19. Low birthweight and premature birth are both associated with type 2 diabetes in a random sample of middle-aged Danes

    DEFF Research Database (Denmark)

    Pilgaard, K; Færch, K; Carstensen, B

    2010-01-01

    We studied the associations of size at birth and prematurity with type 2 diabetes, insulin sensitivity and beta cell function in the Danish population-based Inter99 study (ClinicalTrials.gov NCT00289237)....

  20. Low birthweight and premature birth are both associated with type 2 diabetes in a random sample of middle-aged Danes

    DEFF Research Database (Denmark)

    Pilgaard, K; Færch, K; Carstensen, B;

    2010-01-01

    We studied the associations of size at birth and prematurity with type 2 diabetes, insulin sensitivity and beta cell function in the Danish population-based Inter99 study (ClinicalTrials.gov NCT00289237).......We studied the associations of size at birth and prematurity with type 2 diabetes, insulin sensitivity and beta cell function in the Danish population-based Inter99 study (ClinicalTrials.gov NCT00289237)....

  1. Retinopathy of Prematurity (ROP)

    Science.gov (United States)

    ... of Prematurity (ROP) Facts About Retinopathy of Prematurity (ROP) This information was developed by the National Eye ... blind from ROP. Are there different stages of ROP? Yes. ROP is classified in five stages, ranging ...

  2. Pharmacotherapy for premature ejaculation

    NARCIS (Netherlands)

    Waldinger, Marcel D

    PURPOSE OF REVIEW: As there are various drugs and different treatment strategies to delay ejaculation, a review of the current drug treatments for premature ejaculation is relevant for daily clinical practice. RECENT FINDINGS: There are four premature ejaculation subtypes: lifelong premature

  3. Pharmacotherapy for premature ejaculation

    NARCIS (Netherlands)

    Waldinger, Marcel D

    2014-01-01

    PURPOSE OF REVIEW: As there are various drugs and different treatment strategies to delay ejaculation, a review of the current drug treatments for premature ejaculation is relevant for daily clinical practice. RECENT FINDINGS: There are four premature ejaculation subtypes: lifelong premature ejacula

  4. Health Issues of Premature Babies

    Science.gov (United States)

    ... Text Size Email Print Share Health Issues of Premature Babies Page Content Because premature babies are born before they are physically ready ... associated with prematurity. Because of these health concerns, premature babies are given extra medical attention and assistance ...

  5. Difference in age at regression in children with autism with and without Down syndrome.

    Science.gov (United States)

    Castillo, Heidi; Patterson, Bonnie; Hickey, Francis; Kinsman, Anne; Howard, Jennifer M; Mitchell, Terry; Molloy, Cynthia A

    2008-04-01

    Autism occurs more frequently in individuals with Down syndrome than it does in the general population. Among children with autism and Down syndrome, regression is reported to occur in up to 50%. The aim of this study was to characterize and compare regression in children with autism with and without Down syndrome. In this case-control study, children with Down syndrome and autism characterized by a history of developmental regression (n = 12) were compared to children with autism with regression who did not have Down syndrome, matched for chronologic age and gender. Comparisons were made on age at acquisition of language and age at loss of language and other skills as measured by the Autism Diagnostic Interview-Revised (ADI-R). The mean age at acquisition of meaningful use of single words was 40.6 months (SD = 38.0) in children with Down syndrome and autism compared to 14.9 months (SD = 8.5) in children with autism without Down syndrome (p = .005). The mean age at language loss in children with autism with Down syndrome was 61.8 months (SD = 22.9) compared to 19.7 months (SD = 5.8) for those with autism without Down syndrome (p = .01). The mean age at other skill loss was 46.2 months (SD = 19.1) and 19.5 months (SD = 5.6), respectively (p = .006). When regression occurs in children with autism and Down syndrome it is, on average, much later than is typically seen in children with autism without Down syndrome.

  6. Frequency of neonatal complications after premature delivery

    Directory of Open Access Journals (Sweden)

    Gordana Grgić

    2013-04-01

    Full Text Available Introduction: Preterm delivery is the delivery before 37 weeks of gestation are completed. The incidence of preterm birth ranges from 5 to 15%. Aims of the study were to determine the average body weight, Apgar score after one and five minutes, and the frequency of the most common complications in preterminfants.Methods: The study involved a total of 631 newborns, of whom 331 were born prematurely Aims of this study were to (24th-37th gestational weeks-experimental group, while 300 infants were born in time (37-42 weeks of gestation-control group.Results: Average body weight of prematurely born infants was 2382 grams, while the average Apgar score in this group after the fi rst minute was 7.32 and 7.79 after the fifth minute. The incidence of respiratory distress syndrome was 50%, intracranial hemorrhage, 28.1% and 4.8% of sepsis. Respiratory distresssyndrome was more common in infants born before 32 weeks of gestation. Mortality of premature infants is present in 9.1% and is higher than that of infants born at term.Conclusions: Birth body weight and Apgar scores was lower in preterm infants. Respiratory distress syndrome is the most common fetal complication of prematurity. Intracranial hemorrhage is the second most common complication of prematurity. Mortality of premature infants is higher than the mortality of infants born at term birth.

  7. Model of human aging: Recent findings on Werner’s and Hutchinson-Gilford progeria syndromes

    Directory of Open Access Journals (Sweden)

    Shian-ling Ding

    2008-09-01

    Full Text Available Shian-ling Ding1, Chen-Yang Shen2,3,41Department of Nursing, Kang-Ning Junior College of Medical Care and Management, Taipei, Taiwan; 2Institute of Biomedical Sciences, and 3Life Science Library, Academia Sinica, Taipei, Taiwan; 4Graduate Institute of Environmental Science, China Medical University, Taichong, TaiwanAbstract: The molecular mechanisms involved in human aging are complicated. Two progeria syndromes, Werner’s syndrome (WS and Hutchinson-Gilford progeria syndrome (HGPS, characterized by clinical features mimicking physiological aging at an early age, provide insights into the mechanisms of natural aging. Based on recent findings on WS and HGPS, we suggest a model of human aging. Human aging can be triggered by two main mechanisms, telomere shortening and DNA damage. In telomere-dependent aging, telomere shortening and dysfunction may lead to DNA damage responses which induce cellular senescence. In DNA damage-initiated aging, DNA damage accumulates, along with DNA repair deficiencies, resulting in genomic instability and accelerated cellular senescence. In addition, aging due to both mechanisms (DNA damage and telomere shortening is strongly dependent on p53 status. These two mechanisms can also act cooperatively to increase the overall level of genomic instability, triggering the onset of human aging phenotypes.Keywords: human aging, Hutchinson-Gilford Progeria syndrome, Werner syndrome

  8. Premature ovarian failure.

    Science.gov (United States)

    Shelling, Andrew N

    2010-11-01

    Premature ovarian failure (POF) is a common cause of infertility in women, and is characterised by amenorrhoea, hypo-oestrogenism and elevated gonadotrophin levels in women under the age of 40. Known causes include iatrogenic agents that cause permanent damage to the ovaries, such as chemotherapy, radiation therapy and surgery, autoimmune conditions, X-chromosome abnormalities and autosomal genetic conditions. However, few genes have been identified that can explain a substantial proportion of cases of POF. Most women with POF are deeply upset by the diagnosis, partly due to the unexpected menopausal symptoms, but also due to infertility. Therefore, early detection would provide better opportunity for early intervention, and furthermore, the identification of specific gene defects will help to direct potential targets for future treatment.

  9. Apnea of prematurity

    Directory of Open Access Journals (Sweden)

    Piermichele Paolillo

    2013-06-01

    Full Text Available Apnea of prematurity (AOP is one of the most frequent pathologies in the Neonatal Intensive Care Unit, with an incidence inversely related to gestational age. Its etiology is often multi factorial and diagnosis of idiopathic forms requires exclusion of other underlying diseases. Despite being a self-limiting condition which regresses with the maturation of the newborn, possible long-term effects of recurring apneas and the degree of desaturation and bradycardia who may lead to abnormal neurological outcome are not yet clarified. Therefore AOP needs careful evaluation of its etiology and adequate therapy that can be both pharmacological and non-pharmacological. Proceedings of the 9th International Workshop on Neonatology · Cagliari (Italy · October 23rd-26th, 2013 · Learned lessons, changing practice and cutting-edge research

  10. A high-fat diet and NAD+ activate sirt1 to rescue premature aging in cockayne syndrome

    DEFF Research Database (Denmark)

    Scheibye-Knudsen, Morten; Mitchell, Sarah J.; Fang, Evandro F.;

    2014-01-01

    SIRT1 activity and mitochondrial dysfunction. Notably, β-hydroxybutyrate levels are increased by the high-fat diet, and β-hydroxybutyrate, PARP inhibition, or NAD+ supplementation can activate SIRT1 and rescue CS-associated phenotypes. Mechanistically, CSB can displace activated PARP1 from damaged DNA...... to limit its activity. This study connects two emerging longevity metabolites, β-hydroxybutyrate and NAD+, through the deacetylase SIRT1 and suggests possible interventions for CS....

  11. Increased release and activity of matrix metalloproteinase-9 in patients with mandibuloacral dysplasia type A, a rare premature ageing syndrome.

    Science.gov (United States)

    Lombardi, F; Fasciglione, G F; D'Apice, M R; Vielle, A; D'Adamo, M; Sbraccia, P; Marini, S; Borgiani, P; Coletta, M; Novelli, G

    2008-10-01

    Mandibuloacral dysplasia type A (MADA; OMIM 248370), a rare disorder caused by mutation in the LMNA gene, is characterized by post-natal growth retardation, craniofacial and skeletal anomalies (mandibular and clavicular hypoplasia, acroosteolysis, delayed closure of cranial sutures, low bone mass and joint contractures), cutaneous changes and partial lipodystrophy. Little is known about the molecular mechanisms by which LMNA mutations produce bone alterations. An altered bone extracellular matrix (ECM) remodelling could play a pivotal role in this disorder and influence part of the typical bone phenotype observed in patients. Therefore, we have focused our investigation on matrix metalloproteinases (MMPs), which are degradative enzymes involved in ECM degradation and ECM remodelling, thus likely contributing to the altered bone mineral density and bone metabolism values seen in five MADA patients. We evaluated the serum levels of several MMPs involved in bone development, remodelling and homeostasis, such as MMP-9, -2, -3, -8 and -13, and found that only the 82 kDa active enzyme forms of MMP-9 are significantly higher in MADA sera compared with healthy controls (n = 16). The serum level of MMP-3 was instead lower in all patients. No significant differences were observed between controls and MADA patients for the serum levels of MMP-2, -8 and -13 and of tissue inhibitor of metalloproteinase 2, a natural inhibitor of MMP-9. Similarly, normal serum levels of tumour necrosis factor alpha (TNF-alpha), interleukin (IL)-6 and IL-1beta were detected. These data suggest a possible involvement of MMP-9 in MADA disease, underlying the potential use in diagnosis and therapy.

  12. Association of age at menarche with metabolic syndrome and its components in rural Bangladeshi women

    Directory of Open Access Journals (Sweden)

    Akter Shamima

    2012-11-01

    Full Text Available Abstract Background Early age at menarche is associated with increased risk of metabolic syndrome in both China and the West. However, little is known about the impact of age at menarche and metabolic syndrome in South Asian women, including those from low-income country, where age at menarche is also falling. The aim of the present study was to investigate whether age at menarche is inversely associated with metabolic syndrome in Bangladeshi women, who are mostly poor and have limited access to and or poor health care facilities. Methods This community-based cross-sectional study was performed using 1423 women aged between 15–75 years from rural Bangladesh in 2009 and 2010. Metabolic syndrome was defined according to standard NCEP-ATP III criteria. Logistic regression was used to estimate the association between age at menarche and metabolic syndrome, with adjustment of potential confounding variables, including age, education, marital status, tobacco users, use of contraceptives and number of pregnancies. Results Early onset of menarche (13 years was found to be associated with a higher prevalence of metabolic syndrome (odds ratio=1.55; 95 % confidence interval =1.05-2.30. Age at onset of menarche was also inversely associated with prevalence of high triglycerides (P for trend P for trend = 0.01, but positively associated with prevalence of high fasting blood glucose (P for trend =0.02. However, no significant association was found between age at menarche, high blood pressure and elevated waist circumference. Conclusion Early onset of menarche might promote or trigger development of metabolic syndrome. Thus, knowledge of the history of age at onset of menarche may be critical in identifying women at risk of developing metabolic syndrome and those likely to benefit the most from early interventions.

  13. Prevalence of metabolic syndrome in adolescents aged 10-18 years in Jammu, J and K

    Directory of Open Access Journals (Sweden)

    Narinder Singh

    2013-01-01

    Full Text Available Objective: To estimate the prevalence of metabolic syndrome among adolescents attending school in the Jammu region, India. Materials and Methods: This is a cross-sectional study conducted between November 2009 and December 2010, among a total of 1160 school-going adolescents of both sexes aged 10-18 years. Relevant metabolic and anthropometric variables were analyzed and criteria suggested by National Cholesterol Education Program Adult Treatment Panel Third (NCEP-ATP III modified for age was used to define metabolic syndrome. Results: The overall prevalence of metabolic syndrome was 2.6%. Prevalence of metabolic syndrome was higher in males (3.84% than in females (1.6% and slightly higher in urban area (2.80% than in rural area (2.52%, whereas prevalence of metabolic syndrome among centrally obese subjects was as high as 33.33%. High density lipoprotein cholesterol was the most common and high blood pressure was the least common constituent of metabolic syndrome. Metabolic syndrome was most prevalent in 16-18 years age group (4.79%. Conclusion : This study demonstrates that metabolic syndrome phenotype exists in substantial number (up to 3% of adolescent population in the Jammu region, India, and particularly 33% of obese adolescents are at risk to develop metabolic syndrome. These findings pose a serious threat to the current and future health of these young people.

  14. Proteomic profiling of adipose tissue from Zmpste24-/- mice, a model of lipodystrophy and premature aging, reveals major changes in mitochondrial function and vimentin processing.

    Science.gov (United States)

    Peinado, Juan R; Quirós, Pedro M; Pulido, Marina R; Mariño, Guillermo; Martínez-Chantar, Maria L; Vázquez-Martínez, Rafael; Freije, José M P; López-Otín, Carlos; Malagón, María M

    2011-11-01

    Lipodystrophy is a major disease involving severe alterations of adipose tissue distribution and metabolism. Mutations in genes encoding the nuclear envelope protein lamin A or its processing enzyme, the metalloproteinase Zmpste24, cause diverse human progeroid syndromes that are commonly characterized by a selective loss of adipose tissue. Similarly to humans, mice deficient in Zmpste24 accumulate prelamin A and display phenotypic features of accelerated aging, including lipodystrophy. Herein, we report the proteome and phosphoproteome of adipose tissue as well as serum metabolome in lipodystrophy by using Zmpste24(-/-) mice as experimental model. We show that Zmpste24 deficiency enhanced lipolysis, fatty acid biogenesis and β-oxidation as well as decreased fatty acid re-esterification, thus pointing to an increased partitioning of fatty acid toward β-oxidation and away from storage that likely underlies the observed size reduction of Zmpste24-null adipocytes. Besides the mitochondrial proteins related to lipid metabolism, other protein networks related to mitochondrial function, including those involved in tricarboxylic acid cycle and oxidative phosphorylation, were up-regulated in Zmpste24(-/-) mice. These results, together with the observation of an increased mitochondrial response to oxidative stress, support the relationship between defective prelamin A processing and mitochondrial dysfunction and highlight the relevance of oxidative damage in lipoatrophy and aging. We also show that absence of Zmpste24 profoundly alters the processing of the cytoskeletal protein vimentin and identify a novel protein dysregulated in lipodystrophy, High-Mobility Group Box-1 Protein. Finally, we found several lipid derivates with important roles in energy balance, such as Lysophosphatidylcholine or 2-arachidonoylglycerol, to be dysregulated in Zmpste24(-/-) serum. Together, our findings in Zmpste24(-/-) mice may be useful to unveil the mechanisms underlying adipose tissue

  15. Developmental Trajectories of Structural and Pragmatic Language Skills in School-Aged Children with Williams Syndrome

    Science.gov (United States)

    Van Den Heuvel, E.; Manders, E.; Swillen, A.; Zink, I.

    2016-01-01

    Background: This study aimed to compare developmental courses of structural and pragmatic language skills in school-aged children with Williams syndrome (WS) and children with idiopathic intellectual disability (IID). Comparison of these language trajectories could highlight syndrome-specific developmental features. Method: Twelve monolingual…

  16. Developmental Trajectories of Structural and Pragmatic Language Skills in School-Aged Children with Williams Syndrome

    Science.gov (United States)

    Van Den Heuvel, E.; Manders, E.; Swillen, A.; Zink, I.

    2016-01-01

    Background: This study aimed to compare developmental courses of structural and pragmatic language skills in school-aged children with Williams syndrome (WS) and children with idiopathic intellectual disability (IID). Comparison of these language trajectories could highlight syndrome-specific developmental features. Method: Twelve monolingual…

  17. The diagnostic value of the EEG in Angelman and Rett syndrome at a young age

    NARCIS (Netherlands)

    Laan, LAEM; Brouwer, OF; Begeer, CH; Zwinderman, AH; van Dijk, JG

    1998-01-01

    We determined the diagnostic value of the EEG in young children with Angelman syndrome (AS) and Rett syndrome (RS). EEGs, recorded before 5 years of age, of 10 patients with AS, 10 with RS and 10 with mental retardation of other origin were studied blindly by two examiners for the presence of the fo

  18. Metabolic syndrome in women of childbearing age and pregnancy: recognition and management of dyslipidemia.

    Science.gov (United States)

    Paramsothy, Pathmaja; Knopp, Robert H

    2005-01-01

    The obesity pandemic engenders the global threat of metabolic syndrome and its related disorders, including diabetes and coronary artery disease (CAD). The purpose of this review is to discuss the deleterious effects of metabolic syndrome on women of childbearing age, including pregnancy, with a discussion of lipid management. Treatment options will also be presented.

  19. Human milk for the premature infant

    Science.gov (United States)

    Underwood, Mark A.

    2012-01-01

    Synopsis Premature infants are a heterogeneous group with widely differing needs for nutrition and immune protection with risk of growth failure, developmental delays, necrotizing enterocolitis, and late-onset sepsis increasing with decreasing gestational age and birth weight. Human milk from women delivering prematurely has more protein and higher levels of many bioactive molecules compared to milk from women delivering at term. Human milk must be fortified for small premature infants to achieve adequate growth. Mother’s own milk improves growth and neurodevelopment and decreases the risk of necrotizing enterocolitis and late-onset sepsis and should therefore be the primary enteral diet of premature infants. Donor milk is a valuable resource for premature infants whose mothers are unable to provide an adequate supply of milk, but presents significant challenges including the need for pasteurization, nutritional and biochemical deficiencies and a limited supply. PMID:23178065

  20. Positional moulding in premature hydrocephalics.

    Directory of Open Access Journals (Sweden)

    Kumar R

    2002-04-01

    Full Text Available Seven premature hydrocephalics presenting with lambdoid positional moulding (LPM were reviewed. All were treated for hydrocephalus secondary to aqueductal stenosis, Dandy Walker Syndrome and infection. Parenchymal hemorrhage, intraventricular bleed, cortical atrophy, septal agenesis, cortical anomalies and subdural hygroma were the other common associations. These children did not show expected improvement in their higher mental functions at 6 months to 5.4 years of follow-up, following the management of hydrocephalus. It was not the LPM but associated intracranial anomalies, which were most probably responsible for their poor outcome. The differentiation from posterior plagiocephaly is also highlighted.

  1. EEG features of absence seizures in idiopathic generalized epilepsy: Impact of syndrome, age, and state

    DEFF Research Database (Denmark)

    Sadleir, L.G.; Scheffer, I.E.; Smith, S.

    2009-01-01

    Purpose: Factors influencing the electroencephalography (EEG) features of absence seizures in newly presenting children with idiopathic generalized epilepsy (IGE) have not been rigorously studied. We examined how specific factors such as state, provocation, age, and epilepsy syndrome affect the E...

  2. Infants with Down Syndrome: Percentage and Age for Acquisition of Gross Motor Skills

    Science.gov (United States)

    Pereira, Karina; Basso, Renata Pedrolongo; Lindquist, Ana Raquel Rodrigues; da Silva, Louise Gracelli Pereira; Tudella, Eloisa

    2013-01-01

    The literature is bereft of information about the age at which infants with Down syndrome (DS) acquire motor skills and the percentage of infants that do so by the age of 12 months. Therefore, it is necessary to identify the difference in age, in relation to typical infants, at which motor skills were acquired and the percentage of infants with DS…

  3. Size and Composition of the Lexicon in Prematurely Born Very-Low-Birth-Weight and Full-Term Finnish Children at Two Years of Age

    Science.gov (United States)

    Stolt, Suvi; Klippi, Anu; Launonen, Kaisa; Munck, Petriina; Lehtonen, Liisa; Lapinleimu, Helena; Haataja, Leena

    2007-01-01

    This paper focuses on the aspects of the lexicon in 66 prematurely born very-low-birth-weight and 87 full-term Finnish children at 2;0, studied using the Finnish version of the "MacArthur Communicative Developmental Inventory". The groups did not differ in vocabulary size. Furthermore, the female advantage in vocabulary size was not seen…

  4. AMH as Predictor of Premature Ovarian Insufficiency

    DEFF Research Database (Denmark)

    Lunding, Stine Aa; Aksglæde, Lise; Anderson, Richard A

    2015-01-01

    CONTEXT: The majority of Turner syndrome (TS) patients suffer from accelerated loss of primordial follicles. Low circulating levels of anti-Müllerian hormone (AMH) may predict the lack of spontaneous puberty in prepubertal girls and imminent premature ovarian insufficiency (POI) in TS women...

  5. [Behaviour problems of children with Down syndrome in preschool-age – Results from the Heidelberg Down syndrome study].

    Science.gov (United States)

    Sarimski, Klaus

    2017-04-21

    We report on the frequency and the correlations of behaviour problems among children with Down syndrome in preschool-age. Method: As part of a longitudinal study 48 mothers of children with Down syndrome completed the German version of the “Strengths and Difficulties Questionnaire” (SDQ-D) and the Parenting Stress Inventory (PSI). The mothers were asked to fill out the questionnaires when the children had a mean age of five years. The results were compared to norms from children with typical development. Thirty per cent of the children with Down syndrome were rated as abnormal. Specifically, mean scores indicating problems with children of the same age and hyperactivity were elevated. A regression analysis predicting the total problem score of the SDQ-D revealed maternal educational level, optimistic attitude, and subjective parental stress at the age of one year and the degree of behavioural abnormalities at the age of three years as significant influential factors. Early intervention for Down syndrome children should include supporting parenting competence and coping skills in order to prevent behaviour problems.

  6. Premature infants' health at multiple induced pregnancy.

    Directory of Open Access Journals (Sweden)

    Chernenkov Yu.V.

    2015-09-01

    Full Text Available Objective: to define the risk factors adversely influencing prenatal development at premature birth at use of methods of assisted reproductive technology (ART; to estimate premature' infants health from multiple induced pregnancy according to Perinatal Center of Saratov for last 3 years. Material and Methods. Under supervision there were 139 pregnant women with application ART. 202 children (51 twins were born and 5 triplet babies, from them 83 premature infants born from multiple induced pregnancy have been analyzed. Results. The newborns examined by method ART, were distributed as follows: 22-28 weeks — 19 children; 29-32 weeks — 23; 33-36 weeks — 41. Asphyxia at birth was marked at all premature infants. Respiratory insufficiency at birth is revealed in 87,3% of cases. The most frequent pathologies in premature infants are revealed: neurologic infringements and bronchopulmonary pathology occured at all children, developmental anomaly — 33, 8%, retinopathies in premature infants — 26,5%. The mortality causes include: extreme immaturity, cerebral leukomalacia, IVN 3 degrees. Conclusion. The risk factors, premature birth at application of methods ART are revealed: aged primiparas, pharmacological influence, absence of physiological conditions of prenatal development; multifetation. The high percent of birth of children with ELBW and ULBW is revealed. RDCN with further BPD development, retinopathies in premature infants and CNS defeat is more often occured.

  7. Bloom syndrome in short children born small for gestational age: a challenging diagnosis.

    Science.gov (United States)

    Renes, Judith S; Willemsen, Ruben H; Wagner, Anja; Finken, Martijn J J; Hokken-Koelega, Anita C S

    2013-10-01

    GH treatment has become a frequently applied growth-promoting therapy in short children born small for gestational age (SGA). In some disorders GH treatment is contraindicated, eg, chromosomal breakage syndromes. Bloom syndrome is a rare chromosomal breakage syndrome characterized by severe pre- and postnatal growth deficiency, a photosensitive facial erythema, immunodeficiency, mental retardation or learning disabilities, endocrinopathies, and a predisposition to develop a wide variety of cancers. We report 2 patients with Bloom syndrome illustrating the variety in clinical manifestations. They were initially diagnosed with short stature after SGA birth and Silver Russell syndrome and treated with GH. Both patients presented with pre- and postnatal growth failure but no clear other characteristic features associated with Bloom syndrome. Photosensitive skin lesions developed only at a pubertal age and were minimal. Also, both children showed normal immunoglobulin levels, normal development, and no signs of endocrinopathies at start of GH. Dysmorphic features resembling Silver Russell syndrome were observed in both patients. Remarkably, during GH treatment IGF-1 levels increased to values greater than 3.5 SD score, with normal IGF binding protein-3 levels. Short children born SGA comprise a heterogeneous group. Bloom syndrome should be tested for in children with consanguineous parents, dysmorphic features (particularly resembling Silver Russell syndrome), skin abnormalities, and/or IGF-1 levels greater than 2.5 SD score during standard GH treatment with normal IGF binding protein-3 levels.

  8. Effect of pulmonary surfactant joint n-CPAP on respiratory distress syndrome in premature infants%珂立苏联合CPAP治疗早产儿呼吸窘迫综合征

    Institute of Scientific and Technical Information of China (English)

    刘健华

    2012-01-01

    目的 观察外源性肺表面活性物质联合n-CPAP治疗早产儿呼吸窘迫综合征的疗效.方法 32例患儿应用珂立苏及n-CPAP治疗,观察治疗后临床反应、血气变化、CPAP参数变化及疗效.结果 应用珂立苏及n-CPAP后患儿呼吸困难、呻吟、发绀、吸凹征明显减轻或消失,CPAP参数均下调,用药前后pH、PaO2、PaCO2差异有统计学意义(P<0.05);无气胸、肺出血等并发症,32例均治愈出院.结论 外源性肺表面活性物质珂立苏联合n-CPAP治疗早产儿呼吸窘迫综合征的疗效确切,可明显改善临床症状、血气指标及氧合状况.%Objective To observe the effects of pulmonary surfactant - Calf joint n - CPAP on respiratory distress syndrome of premature infants. Methods Thirty - two cases of premature infants with respiratory distress syndrome undergone the treatment with pulmonary surfactant - Calf joint n - CPAP. Then the clinical response, changes of blood gas index and CPAP parameter, and therapeutic effects were observed. Results After the treatment of pulmonary surfactant - Calf joint n - CPAP, the symptoms like dyspnea, retarded expiration, breath depressions sign and cyanosis were lessened and disappeared. The parameters of the CPAP were slowed down. The difference was significant when pH, PaO2 , PaCO2 were compared with those of pre - medication ( P <0. 05 ). There were no complications like pneumothorax and pulmonary hemorrhage, and all 32 cases were cured. Conclusion It is effective to use pulmonary surfactant - Calf joint n - CPAP in the treatment of respiratory distress syndrome of premature infants, which can effectively improve the clinical symptom, blood gas index and status of oxygen.

  9. Effect of the Aged Garlic Extract on Cardiovascular Function in Metabolic Syndrome Rats.

    Science.gov (United States)

    Pérez-Torres, Israel; Torres-Narváez, Juan Carlos; Pedraza-Chaverri, José; Rubio-Ruiz, María Esther; Díaz-Díaz, Eulises; Del Valle-Mondragón, Leonardo; Martínez-Memije, Raúl; Varela López, Elvira; Guarner-Lans, Verónica

    2016-10-26

    The antioxidant properties of aged garlic extract (AGE) on cardiovascular functioning (CF) in metabolic syndrome (MS) remains poorly studied. Here we study the AGE effects on CF in a rat model of MS. Control rats plus saline solution (C + SS), MS rats (30% sucrose in drinking water from weaning) plus saline solution (MS + SS), control rats receiving AGE (C + AGE 125 mg/Kg/12 h) and MS rats with AGE (MS + AGE) were studied. MS + SS had increased triglycerides, systolic blood pressure, insulin, leptin, HOMA index, and advanced glycation end products. AGE returned their levels to control values (p properties.

  10. Strain- and age-dependent hippocampal neuron sodium currents correlate with epilepsy severity in Dravet syndrome mice.

    Science.gov (United States)

    Mistry, Akshitkumar M; Thompson, Christopher H; Miller, Alison R; Vanoye, Carlos G; George, Alfred L; Kearney, Jennifer A

    2014-05-01

    Heterozygous loss-of-function SCN1A mutations cause Dravet syndrome, an epileptic encephalopathy of infancy that exhibits variable clinical severity. We utilized a heterozygous Scn1a knockout (Scn1a(+/-)) mouse model of Dravet syndrome to investigate the basis for phenotype variability. These animals exhibit strain-dependent seizure severity and survival. Scn1a(+/-) mice on strain 129S6/SvEvTac (129.Scn1a(+/-)) have no overt phenotype and normal survival compared with Scn1a(+/-) mice bred to C57BL/6J (F1.Scn1a(+/-)) that have severe epilepsy and premature lethality. We tested the hypothesis that strain differences in sodium current (INa) density in hippocampal neurons contribute to these divergent phenotypes. Whole-cell voltage-clamp recording was performed on acutely-dissociated hippocampal neurons from postnatal days 21-24 (P21-24) 129.Scn1a(+/-) or F1.Scn1a(+/-) mice and wild-type littermates. INa density was lower in GABAergic interneurons from F1.Scn1a(+/-) mice compared to wild-type littermates, while on the 129 strain there was no difference in GABAergic interneuron INa density between 129.Scn1a(+/-) mice and wild-type littermate controls. By contrast, INa density was elevated in pyramidal neurons from both 129.Scn1a(+/-) and F1.Scn1a(+/-) mice, and was correlated with more frequent spontaneous action potential firing in these neurons, as well as more sustained firing in F1.Scn1a(+/-) neurons. We also observed age-dependent differences in pyramidal neuron INa density between wild-type and Scn1a(+/-) animals. We conclude that preserved INa density in GABAergic interneurons contributes to the milder phenotype of 129.Scn1a(+/-) mice. Furthermore, elevated INa density in excitatory pyramidal neurons at P21-24 correlates with age-dependent onset of lethality in F1.Scn1a(+/-) mice. Our findings illustrate differences in hippocampal neurons that may underlie strain- and age-dependent phenotype severity in a Dravet syndrome mouse model, and emphasize a contribution

  11. Elevated estimated arterial age is associated with metabolic syndrome and low-grade inflammation

    DEFF Research Database (Denmark)

    Greve, Sara V; Blicher, Marie K; Kruger, Ruan

    2016-01-01

    BACKGROUND: Arterial age can be estimated from equations relating arterial stiffness to age and blood pressure in large cohorts. We investigated whether estimated arterial age (eAA) was elevated in patients with the metabolic syndrome and/or known cardiovascular disease (CVD), which factors were...... of metabolic syndrome, Systematic COronary Risk Evaluation, or Framingham risk score. From age, mean blood pressure, and cfPWV, eAA and estimated cfPWV (ePWV) were calculated. In 2006, the combined cardiovascular endpoint (CEP) of cardiovascular death, nonfatal myocardial infarction, nonfatal stroke...

  12. NEONATAL COMPLICATIONS OF PREMATURE RUPTURE OF MEMBRANES

    Directory of Open Access Journals (Sweden)

    F. Nili AA. Shams Ansari

    2003-07-01

    Full Text Available Premature rupture of membranes (PROM is one of the most common complications of pregnancy that has a major impact on neonatal outcomes. With respect to racial, nutritional and cultural differences between developed and developing countries, this study was conducted to detect the prevalence of neonatal complications following PROM and the role of the duration of rupture of membranes in producing morbidities and mortalities in these neonates in our hospital. Among 2357 pregnant women, we found 163 (6.91% cases of premature rupture of the fetal membranes in Tehran Vali-e-Asr Hospital during April 2001 to April 2002. Route of delivery was cesarean section in 65.6% of women. Urinary tract infection occured in 1.8%, maternal leukocytosis and fever in 20.2% and 5.5%, chorioamnionitis in 6.1%, fetal tachycardia in 1.2% and olygohydramnios in 4.9%. Gestational age in 138 (86% of neonates was less than 37 completed weeks. Thirty five infants (21.47% had respiratory distress syndrome and 33 (20.245% had clinical sepsis. Pneumonia in 6 (3.7% and skeletal deformity in 7 (4.294% were seen. Rupture of membrane of more than 24 hours duration occurred in 71 (43.6% of the patients. Comparison of morbidities between two groups of neonates and their mothers according to the duration of PROM (less and more than 24 hours showed significant differences in NICU admission, olygohydramnios, maternal fever, leukocytosis and chorioamnionitis rates (p24 hr of PROM with an odds ratio of 2.68 and 2.73, respectively. Positive blood and eye cultures were detected in 16 cases during 72 hours of age. Staphylococcus species, klebsiella, E.coli and streptococcus were the predominant organisms among positive blood cultures. Mortality was seen in 18 (11% of neonates because of respiratory failure, disseminated intravascular coagulation, septic shock, and a single case of congenital toxoplasmosis. In this study, the prevalence of prematurity, sepsis and prolonged rupture of membrane

  13. Increasing incidence of premature thelarche in the Central Region of Denmark - Challenges in differentiating girls less than 7 years of age with premature thelarche from girls with precocious puberty in real-life practice

    DEFF Research Database (Denmark)

    Sømod, Mia Elbek; Vestergaard, Esben Thyssen; Kristensen, Kurt

    2016-01-01

    was the variable which best discriminated PT from PP. Third, stimulated LH in 1-3 years old girls with PT is similar to stimulated LH in 5-7 years old girls with PP. Age, BMISDS, ethnicity, bone age, stimulated gonadotropins and LH/FSH and SHBG are all useful variables for differentiating PP from PT. However...

  14. Acute appendicitis in a premature baby

    Energy Technology Data Exchange (ETDEWEB)

    Beluffi, Giampiero; Alberici, Elisa [Department of Radiodiagnosis, Section of Paediatric Radiology, IRCCS Policlinico S. Matteo, Piazzale Golgi 2, 27100 Pavia PV (Italy)

    2002-07-01

    A case of acute appendicitis in a premature baby in whom diagnosis was suggested on plain films of the abdomen is presented. In this baby air in a hollow viscus suspected of being an enlarged appendix was the clue to diagnosis. The diagnostic dilemma of this rare and life-threatening condition in premature babies and newborns is underlined. The relevance of different imaging modalities and of different findings in this age group is discussed. Awareness of this rare condition and possible differential diagnosis in newborns and premature babies is stressed. (orig.)

  15. Evaluation of Radiation Dose Received by Premature Neonates Admitted to Neonatal Intensive Care Unit

    Science.gov (United States)

    Aramesh, Mohmmadreza; Zanganeh, Kobra Aria; Dehdashtian, Masoud; Malekian, Arash; Fatahiasl, Jafar

    2017-01-01

    Background This study aimed to evaluate the radiation dose received by premature neonates using diagnostic radiographies. Methods This cross-sectional study was conducted on 116 premature neonates with gestational age from 25 to 37 weeks; with the diagnosis of neonatal respiratory distress syndrome (NRDS) and tachypnea, they were admitted to a neonatal intensive care unit (NICU) at Ahvaz Imam Khomeini Hospital in 2015. For assessing the dose received, the model GR-200 thermoluminescent dosimeter (TLD) was used. For each premature neonate under radiation, three TLDs separately (one for each) were placed on surfaces of Ch1, T1, and G1 (chest, thyroid, and gonad of first newborn, respectively). Moreover, for the adjacent neonate at a distance of 60 - 100 cm, two TLDs were laid in the surfaces of T2 and G2 (thyroid and gonad of second newborn, respectively). The dose received by TLDs for any baby and the adjacent neonate under the entrance surface dose (ESD) was estimated. Results The mean of neonates’ weight under study was 1,950.78 ± 484.9 g. During the hospitalization period, minimum one and maximum three radiographies were done for any premature neonate. The doses received in the premature neonates to Ch1, T1 and G1 were 0.08 ± 0.01, 0.06 ± 0.01, and 0.05 ± 0.01 mSv, respectively and for adjacent infants for T2 and G2 were 0.003 ± 0.001 and 0.002 ± 0.0009 mSv, respectively. Conclusions In the study, radiation dose received by organs at risk of premature neonates was lower than the international criteria and standards, therefore, also due to the lack of radiation damage threshold, to limit collimator, and the use of the proper filtration, kilovoltage and time during radiography of premature neonates are recommended. PMID:28090228

  16. Evidence that PICALM affects age at onset of Alzheimer's dementia in Down syndrome.

    Science.gov (United States)

    Jones, Emma L; Mok, Kin; Hanney, Marisa; Harold, Denise; Sims, Rebecca; Williams, Julie; Ballard, Clive

    2013-10-01

    It is known that individuals with Down syndrome develop Alzheimer's disease with an early age at onset, although associated genetic risk factors have not been widely studied. We tested whether genes that increase the risk of late-onset Alzheimer's disease influence the age at onset in Down syndrome using genome-wide association data for age at onset of dementia in a small sample of individuals (N = 67) with Down syndrome. We tested for association with loci previously associated with Alzheimer's disease risk and, despite the small size of the study, we detected associations with age at onset of Alzheimer's disease in Down syndrome with PICALM (β = 3.31, p = 0.011) and the APOE loci (β = 3.58, p = 0.014). As dementia in people with Down syndrome is relatively understudied, we make all of these data publicly available to encourage further analyses of the problem of Alzheimer's disease in Down syndrome.

  17. 3. Chromosomal instability in B-lymphoblasotoid cell lines from Werner's and Bloom's syndrome patients

    Institute of Scientific and Technical Information of China (English)

    2001-01-01

    @@Werner's syndrome (WS) and Bloom's syndrome (BS) are rare autosomal recessive diseases in which the feature of premature aging and the elevated risk of neoplasia may be associated with genomic instability. To cha-racterize the genomic instability of WS and BS, B-lymphoblastoid cell lines (LCLs) from WS and BS patients were cytogenetically analyzed, comparing to those from healthy donors. Although all

  18. Working Memory in Early-School-Age Children with Asperger's Syndrome

    Science.gov (United States)

    Cui, Jifang; Gao, Dingguo; Chen, Yinghe; Zou, Xiaobing; Wang, Ya

    2010-01-01

    Using a battery of working memory span tasks and n-back tasks, this study aimed to explore working memory functions in early-school-age children with Asperger's syndrome (AS). Twelve children with AS and 29 healthy children matched on age and IQ were recruited. Results showed: (a) children with AS performed better in digit and word recall tasks,…

  19. Sleep Patterns of School-Age Children with Asperger Syndrome or High-Functioning Autism

    Science.gov (United States)

    Allik, Hiie; Larsson, Jan-Olov; Smedje, Hans

    2006-01-01

    Sleep patterns of 32 school-age children with Asperger syndrome (AS) and high-functioning autism (HFA) were compared to those of 32 typically developing age- and gender-matched children, using parent survey and one week of diary and actigraphic monitoring. Parents of children with AS/HFA more commonly reported that their children had difficulty…

  20. Topical-steroid-induced iatrogenic Cushing syndrome in the pediatric age group: A rare case report

    Directory of Open Access Journals (Sweden)

    Ashish Tiwari

    2013-01-01

    Full Text Available Cushing syndrome, a systemic disorder, is the result of abnormally high blood level of cortisol or other glucocorticoids. The most common cause of Cushing syndrome is prolonged exogenous administration of glucocorticoid hormones. Prolonged use of topical corticosteroids, particularly in children, may cause Cushing syndrome and suppression of the hypothalamopituitory-adrenal axis, which is less common than that of oral or parenteral route. However, iatrogenic Cushing syndrome in the infantile age group due to topical steroid is very rare and only a few patients have been reported to date in the literature. Here we report a case of iatrogenic Cushing syndrome due to topical steroid application in a 5-month-old female child admitted to the hospital for repeated episodes of fever and cough.

  1. Topical-steroid-induced iatrogenic Cushing syndrome in the pediatric age group: A rare case report.

    Science.gov (United States)

    Tiwari, Ashish; Goel, Manjusha; Pal, Pankaj; Gohiya, Poorva

    2013-10-01

    Cushing syndrome, a systemic disorder, is the result of abnormally high blood level of cortisol or other glucocorticoids. The most common cause of Cushing syndrome is prolonged exogenous administration of glucocorticoid hormones. Prolonged use of topical corticosteroids, particularly in children, may cause Cushing syndrome and suppression of the hypothalamopituitory-adrenal axis, which is less common than that of oral or parenteral route. However, iatrogenic Cushing syndrome in the infantile age group due to topical steroid is very rare and only a few patients have been reported to date in the literature. Here we report a case of iatrogenic Cushing syndrome due to topical steroid application in a 5-month-old female child admitted to the hospital for repeated episodes of fever and cough.

  2. Outcomes for Extremely Premature Infants

    Science.gov (United States)

    Glass, Hannah C.; Costarino, Andrew T.; Stayer, Stephen A.; Brett, Claire; Cladis, Franklyn; Davis, Peter J.

    2015-01-01

    Premature birth is a significant cause of infant and child morbidity and mortality. In the United States, the premature birth rate, which had steadily increased during the 1990s and early 2000s, has decreased annually for four years and is now approximately 11.5%. Human viability, defined as gestational age at which the chance of survival is 50%, is currently approximately 23–24 weeks in developed countries. Infant girls, on average, have better outcomes than infant boys. A relatively uncomplicated course in the intensive care nursery for an extremely premature infant results in a discharge date close to the prenatal EDC. Despite technological advances and efforts of child health experts during the last generation, the extremely premature infant (less than 28 weeks gestation) and extremely low birth weight infant (ELBW) (premature labor improved neonatal mortality and morbidity in the late 1990s. The recognition that chronic postnatal administration of steroids to infants should be avoided may have improved outcomes in the early 2000s. Evidence from recent trials attempting to define the appropriate target for oxygen saturation in preterm infants suggests arterial oxygen saturation between 91–95% (compared to 85–89%) avoids excess mortality. However, final analyses of data from these trials have not been published, so definitive recommendations are still pending The development of neonatal neurocognitive care visits may improve neurocognitive outcomes in this high-risk group. Long-term follow up to detect and address developmental, learning, behavioral, and social problems is critical for children born at these early gestational ages. The striking similarities in response to extreme prematurity in the lung and brain imply that agents and techniques that benefit one organ are likely to also benefit the other. Finally, since therapy and supportive care continue to change, the outcomes of ELBW infants are ever evolving. Efforts to minimize injury, preserve

  3. Outcomes for extremely premature infants.

    Science.gov (United States)

    Glass, Hannah C; Costarino, Andrew T; Stayer, Stephen A; Brett, Claire M; Cladis, Franklyn; Davis, Peter J

    2015-06-01

    Premature birth is a significant cause of infant and child morbidity and mortality. In the United States, the premature birth rate, which had steadily increased during the 1990s and early 2000s, has decreased annually for 7 years and is now approximately 11.39%. Human viability, defined as gestational age at which the chance of survival is 50%, is currently approximately 23 to 24 weeks in developed countries. Infant girls, on average, have better outcomes than infant boys. A relatively uncomplicated course in the intensive care nursery for an extremely premature infant results in a discharge date close to the prenatal estimated date of confinement. Despite technological advances and efforts of child health experts during the last generation, the extremely premature infant (less than 28 weeks gestation) and extremely low birth weight infant (death and disability with 30% to 50% mortality and, in survivors, at least 20% to 50% risk of morbidity. The introduction of continuous positive airway pressure, mechanical ventilation, and exogenous surfactant increased survival and spurred the development of neonatal intensive care in the 1970s through the early 1990s. Routine administration of antenatal steroids during premature labor improved neonatal mortality and morbidity in the late 1990s. The recognition that chronic postnatal administration of steroids to infants should be avoided may have improved outcomes in the early 2000s. Evidence from recent trials attempting to define the appropriate target for oxygen saturation in preterm infants suggests arterial oxygen saturation between 91% and 95% (compared with 85%-89%) avoids excess mortality; however, final analyses of data from these trials have not been published, so definitive recommendations are still pending. The development of neonatal neurocritical intensive care units may improve neurocognitive outcomes in this high-risk group. Long-term follow-up to detect and address developmental, learning, behavioral, and

  4. Genetics of aging, progeria and lamin disorders.

    Science.gov (United States)

    Ghosh, Shrestha; Zhou, Zhongjun

    2014-06-01

    Premature aging disorders, like Werner syndrome, Bloom's syndrome, and Hutchinson-Gilford Progeria Syndrome (HGPS), have been the subjects of immense interest as they recapitulate many of the phenotypes observed in physiological aging. They, therefore, not only provide model systems to study normal aging processes but also give valuable insights into the intricate mechanisms underlying senescence. Recent works on HGPS have revealed alterations in a spectrum of cellular and molecular pathways involved in the maintenance of genomic integrity, thus suggesting a profound impact of the nuclear lamina in nuclear organization, chromatin dynamics, regulation of gene expression and epigenetics.

  5. Early versus delayed initiation of nasal continuous positive airway pressure for treatment of respiratory distress syndrome in premature newborns: A randomized clinical trial

    Directory of Open Access Journals (Sweden)

    Zohreh Badiee

    2013-01-01

    Conclusions: Early n CPAP is more effective than late n CPAP for the treatment of respiratory distress syndrome. In addition, the early use of n CPAP would reduce the need for some invasive procedures such as intubation and mechanical ventilation.

  6. Retinopathy of Prematurity in Infants with Late Retinal Examination

    Directory of Open Access Journals (Sweden)

    S. Zeinab Mousavi

    2009-01-01

    Full Text Available

    PURPOSE: To report the incidence, severity and risk factors of retinopathy of prematurity (ROP in premature infants with late ROP examination in Farabi Eye Hospital. METHODS: In a retrospective study from January 2001 to July 2007, hospital records of premature infants who were examined later than 9 weeks after birth were reviewed to determine the incidence, severity and possible risk factors of ROP including gender, singleton or multiple gestations, gestational age (GA, birth weight (BW, oxygen therapy, blood transfusion, phototherapy, respiratory distress syndrome (RDS, mechanical ventilation, intraventricular hemorrhage and sepsis as well as age at initial examination. RESULTS: Out of a total of 797 infants referred for ROP screening during the study period, 216 (27.1% had late examinations at a mean age of 141.7±150.4 (range 64-1,460 days. Of these, 87 (40.3% had different stages of ROP, 65 (30.1% had stage 4 or 5 disease including 34 (16.2% infants with stage 5 ROP in both eyes which was untreatable. Lower GA (P < 0.001, RDS (P=0.041 and blood transfusion (P=0.009 were associated with the development of ROP. CONCLUSION: The overall prevalence of ROP and the incidence

  7. Delayed and accelerated aging share common longevity assurance mechanisms

    NARCIS (Netherlands)

    Schumacher, B.; van der Pluijm, I.; Moorhouse, M.J.; Kosteas, T.; Robinson, A.R.; Suh, Y.; Breit, T.M.; van Steeg, H.; Niedernhofer, L.J.; van IJcken, W.; Bartke, A.; Spindler, S.R.; Hoeijmakers, J.H.J.; van der Horst, G.T.J.; Garinis, G.A.

    2008-01-01

    Mutant dwarf and calorie-restricted mice benefit from healthy aging and unusually long lifespan. In contrast, mouse models for DNA repair-deficient progeroid syndromes age and die prematurely. To identify mechanisms that regulate mammalian longevity, we quantified the parallels between the genome-wi

  8. Delayed and accelerated aging share common longevity assurance mechanisms

    NARCIS (Netherlands)

    Schumacher, B.; van der Pluijm, I.; Moorhouse, M.J.; Kosteas, T.; Robinson, A.R.; Suh, Y.; Breit, T.M.; van Steeg, H.; Niedernhofer, L.J.; van IJcken, W.; Bartke, A.; Spindler, S.R.; Hoeijmakers, J.H.J.; van der Horst, G.T.J.; Garinis, G.A.

    2008-01-01

    Mutant dwarf and calorie-restricted mice benefit from healthy aging and unusually long lifespan. In contrast, mouse models for DNA repair-deficient progeroid syndromes age and die prematurely. To identify mechanisms that regulate mammalian longevity, we quantified the parallels between the

  9. Premature ovarian failure

    Directory of Open Access Journals (Sweden)

    Vujović Svetlana

    2012-01-01

    Full Text Available Premature ovarian failure (POF is the occurrence of hypergonadotropic hypoestrogenic amenorrhea in women under the age of forty years. It is idiopathic in 74-90% patients. Known cases can be divided into primary and secondary POF. In primary POF genetic aberrations can involve the X chromosome (monosomy, trisomy, translocations, deletions or autosomes. Genetic mechanisms include reduced gene dosage and non-specific chromosome effects impairing meiosis, decreasing the pool of primordial follicles and increasing atresia due to apoptosis or failure of follicle maturation. Autoimmune ovarian damage is caused by alteration of T-cell subsets and T-cell mediated injury, increase of autoantibody producing B-cells, a low number of effector/cytotoxic lymphocyte, which decreases the number and activity of natural killer cells. Bilateral oophorectomy, chemotherapy, radiotherapy and infections cause the secondary POF. Symptoms of POF include irritability, nervousness, loss of libido, depression, lack of concentration, hot flushes, weight gaining, dry skin, vaginal dryness, frequent infections etc. The diagnosis is confirmed by the level of FSH of over 40 IU/L and estradiol below 50 pmol/L in women aged below 40 years. Biochemical and other hormonal analysis (free thyroxin, TSH, prolactin, testosterone, karyotype (<30 years of age, ultrasound of the breasts and pelvis are advisable. Optimal therapy is combined estrogen progestagen therapy given in a sequential rhythm, after excluding absolute contraindications. Testosterone can be added to adnexectomized women and those with a low libido. Sequential estrogen progestagen replacement therapy is the first line therapy for ovulation induction in those looking for pregnancy and after that oocyte donation will be advised. Appropriate estro-progestagen therapy improves the quality of life and prevents complications such as cardiovascular diseases, osteoporosis, stroke etc.

  10. 过氧化氢诱导的人正常和早老细胞中DNA损伤及其修复研究%The Study of Hydrogen Peroxide Induced DNA Damage and Recovery in Normal Aging and Premature Aging Human Cells

    Institute of Scientific and Technical Information of China (English)

    所起凤; 杜文婷; 杨鸣鸣; 范雪娇; 刘戟

    2011-01-01

    目的 研究人早老细胞和正常衰老细胞在氧化应激条件下的DNA损伤和修复.方法 采用免疫荧光技术和彗星电泳技术,分别检测3组不同群体倍增数(PD)的人正常二倍体成纤维细胞BJ(青年组第14代,成年组第30代,衰老组第45代)和2组不同PD的人赫-吉二氏综合征(HGPS)细胞(青年组第8代,衰老组第17代)的DNA基础损伤程度.研究过氧化氢诱导造成以上细胞组DNA损伤及去除致损因素正常培养后的修复水平,采用免疫荧光和彗星电泳技术检测细胞在沉默DNA损伤修复蛋白着色性干皮病蛋白A(XPA)表达前后的修复能力.结果 BJ细胞衰老组DNA损伤程度较高,与成年组相比,对DNA损伤诱导因子更加敏感(P<0.05);成年组与青年组相比,对损伤诱导因子也更敏感(P<0.05).HGPS细胞青年组的DNA基础损伤程度即已达到衰老BJ细胞类似或更高水平,且与BJ细胞具有一致的DNA损伤年龄变化趋势.经siRNA沉默XPA表达后可部分恢复HGPS细胞的修复能力,对BJ细胞则没有影响.随年龄增长无论正常还是早老细胞,DNA损伤程度增加,修复效率降低.结论 XPA功能异常抑制了HGPS细胞的损伤修复.%Objective To study the DNA damage and recovery induced by hydrogen peroxide in normal aging and premature aging human cells. Methods The immunofluorescent assay and comet assay were used to estimate basal DNA damage in normal aging BJ cells and premature aging Hutchinson-Gilford progeria syndrome (HGPS) cells, which were divided into three and two distinct population doubling (PD) number groups (BJ 14· 30, 45 and HGPS 8, 17) respectively. The DNA damage induced by hydrogen peroxide of these cell populations, as well as their repair activity, was also studied. Finally, the recovery capability before and after the xeroderma pigmentosum group A (XPA ) knocked down in these groups was measured. Results Our results indicated that the normal BJ cells of older PD number

  11. Apnea of prematurity: challenges and solutions

    Directory of Open Access Journals (Sweden)

    Picone S

    2014-06-01

    Full Text Available Simonetta Picone, Roberto Aufieri, Piermichele PaolilloDivision of Neonatology and Neonatal Intensive Care, Department of Maternal and Child Health, Casilino General Hospital, Rome, ItalyAbstract: Apnea of prematurity is a developmental disorder that frequently affects preterm infants, especially those with lower gestational age. Even if apnea of prematurity is by definition a self-limiting condition, it can cause serious problems during the hospital stay and can potentially have long-term neurological and cognitive consequences depending on the severity and intensity of the episodes. The diagnosis of apnea of prematurity can be made only after excluding a number of diseases of the preterm infant in which apnea may be an epiphenomenon. Etiological diagnosis is essential for selection of appropriate treatment, which may be nonpharmacological or involve use of drugs.Keywords: apnea of prematurity, idiopathic and secondary apnea, caffeine

  12. Influence of age and length of service on the level of stress and burnout syndrome.

    Science.gov (United States)

    Stanetić, Kosana; Tesanović, Gordana

    2013-01-01

    The burnout syndrome is a response to chronic emotional and interpersonal stressors which are related to workplace. Medicine is one of the professions at the greatest risk of suffering from burnout syndrome. The aim of this study was to assess the presence of stress and burnout syndrome in relation with age and length of service in the family medicine physicians in the Republic of Srpska. The study was carried out on the basis of a questionnaire survey among family medicine physicians in seven Primary Health Care Centres in the Republic of Srpska from February 1st to April 30th 2010. The participants fulfilled the questionnaire for self-assessment of stress level and the Maslach Burnout Inventory, which were amended with data regarding age, sex, length of service and educational and vocational level. The study included 199 (83.3%) female and 40 (16.7%) male participants. The physicians aged over 46 years and with the length of service over 21 years had statistically significant higher level of stress and emotional exhaustion than younger participants and participants with shorter length of service. Age and length of service have important influence on the level of stress and burnout syndrome: the older the physicians and the higher the length of service the higher the level of stress and the higher the risk of burnout syndrome.

  13. Acetaminophen developmental pharmacokinetics in premature neonates and infants

    DEFF Research Database (Denmark)

    Anderson, Brian J; van Lingen, Richard A; Hansen, Tom G

    2002-01-01

    The aim of this study was to describe acetaminophen developmental pharmacokinetics in premature neonates through infancy to suggest age-appropriate dosing regimens.......The aim of this study was to describe acetaminophen developmental pharmacokinetics in premature neonates through infancy to suggest age-appropriate dosing regimens....

  14. Models for estimating the metabolic syndrome biological age as the new index for evaluation and management of metabolic syndrome

    Science.gov (United States)

    Kang, Young Gon; Suh, Eunkyung; Chun, Hyejin; Kim, Sun-Hyun; Kim, Deog Ki; Bae, Chul-Young

    2017-01-01

    Purpose This study aims to propose a metabolic syndrome (MS) biological age model, through which overall evaluation and management of the health status and aging state in MS can be done easily. Through this model, we hope to provide a novel evaluation and management health index that can be utilized in various health care fields. Patient and methods MS parameters from American Heart Association/National Heart, Lung, and Blood Institute guidelines in 2005 were used as biomarkers for the estimation of MS biological age. MS biological age model development was done by analyzing data of 263,828 participants and clinical application of the developed MS biological age was assessed by analyzing the data of 188,886 subjects. Results The principal component accounted for 36.1% in male and 38.9% in female of the total variance in the battery of five variables. The correlation coefficient between corrected biological age and chronological age in males and females were 0.711 and 0.737, respectively. Significant difference for mean MS biological age and chronological age between the three groups, normal, at risk and MS, was seen (P<0.001). Conclusion For the comprehensive approach in MS management, MS biological age is expected to be additionally utilized as a novel evaluation and management index along with the traditional MS diagnosis. PMID:28203066

  15. "Assessment of retinopathy of prematurity among 150 premature neonates in Farabi eye hospital "

    Directory of Open Access Journals (Sweden)

    "Riazi Esfahani M

    2001-05-01

    Full Text Available The aim of this study was to estimate the incidence of retinopathy of permaturity (ROP and to evaluate possible neonatal risk factors for ROP. The main study was a cross-sectional study including 150 high-risk neonates born at teaching hospitals of Tehran universities referring to to Farabi Eye Hospital. The chossing critertia were birth weight less than 2500 g or gestational age younger than 37 weeks. ROP was present in 9(6% newborns, all of whom aged less than 32 weeks a birth. There was also strong association between ROP and birth weight, oxygen administration, respiratory distress syndrome and intraventricular hemorrhage. There also seems to be a higher risk for developing ROP in female neoates, those who were born by multiple gestaional pregnancies or were treated by phototherapy or transfusion and those who had suffered from bronchopulmonary dysplasia or seiss.Prematurity per se remains the strongest risk factof for ROP. Suitable criteria for screening of ROP seems to be gestational age younger than 32 weeks or birth weight less than 1500 g

  16. 47,XXY Klinefelter syndrome: clinical characteristics and age-specific recommendations for medical management.

    Science.gov (United States)

    Aksglaede, Lise; Link, Katarina; Giwercman, Aleksander; Jørgensen, Niels; Skakkebaek, Niels E; Juul, Anders

    2013-02-15

    47,XXY (Klinefelter syndrome) is the most frequent sex chromosomal disorder and affects approximately one in 660 newborn boys. The syndrome is characterized by varying degrees of cognitive, social, behavioral, and learning difficulties and in adulthood additionally primary testicular failure with small testes, hypergonadotropic hypogonadism, tall stature, and eunuchoid body proportions. The phenotype is variable ranging from "near-normal" to a significantly affected individual. In addition, newborns with Klinefelter syndrome generally present with a normal male phenotype and the only consistent clinical finding in KS is small testes, that are most often not identified until after puberty. Decreased awareness of this syndrome among health professionals and a general perception that all patients with 47,XXY exhibit the classic textbook phenotype results in a highly under-diagnosed condition with up to 75% of the patients left undetected. Typically, diagnosis is delayed with the majority of patients identified during fertility workup in adulthood, and only 10% of patients diagnosed prior to puberty. Early detection of this syndrome is recommended in order to offer treatment and intervention at the appropriate ages and stages of development for the purpose of preventing osteopenia/osteoporosis, metabolic syndrome, and other medical conditions related to hypogonadism and to the XXY as well as minimizing potential learning and psychosocial problems. The aim of this review is to present the clinical aspects of XXY and the age-specific recommendations for medical management. © 2013 Wiley Periodicals, Inc.

  17. The Use of Mouse Models for Understanding the Biology of Down Syndrome and Aging

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    Guido N. Vacano

    2012-01-01

    Full Text Available Down syndrome is a complex condition caused by trisomy of human chromosome 21. The biology of aging may be different in individuals with Down syndrome; this is not well understood in any organism. Because of its complexity, many aspects of Down syndrome must be studied either in humans or in animal models. Studies in humans are essential but are limited for ethical and practical reasons. Fortunately, genetically altered mice can serve as extremely useful models of Down syndrome, and progress in their production and analysis has been remarkable. Here, we describe various mouse models that have been used to study Down syndrome. We focus on segmental trisomies of mouse chromosome regions syntenic to human chromosome 21, mice in which individual genes have been introduced, or mice in which genes have been silenced by targeted mutagenesis. We selected a limited number of genes for which considerable evidence links them to aspects of Down syndrome, and about which much is known regarding their function. We focused on genes important for brain and cognitive function, and for the altered cancer spectrum seen in individuals with Down syndrome. We conclude with observations on the usefulness of mouse models and speculation on future directions.

  18. The use of mouse models for understanding the biology of down syndrome and aging.

    Science.gov (United States)

    Vacano, Guido N; Duval, Nathan; Patterson, David

    2012-01-01

    Down syndrome is a complex condition caused by trisomy of human chromosome 21. The biology of aging may be different in individuals with Down syndrome; this is not well understood in any organism. Because of its complexity, many aspects of Down syndrome must be studied either in humans or in animal models. Studies in humans are essential but are limited for ethical and practical reasons. Fortunately, genetically altered mice can serve as extremely useful models of Down syndrome, and progress in their production and analysis has been remarkable. Here, we describe various mouse models that have been used to study Down syndrome. We focus on segmental trisomies of mouse chromosome regions syntenic to human chromosome 21, mice in which individual genes have been introduced, or mice in which genes have been silenced by targeted mutagenesis. We selected a limited number of genes for which considerable evidence links them to aspects of Down syndrome, and about which much is known regarding their function. We focused on genes important for brain and cognitive function, and for the altered cancer spectrum seen in individuals with Down syndrome. We conclude with observations on the usefulness of mouse models and speculation on future directions.

  19. Necrotizing Enterocolitis: A dreadful condition of premature babies

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    Deepak sharma

    2014-12-01

    Full Text Available NEC is inflammatory necrosis of intestine with most common site being terminal ileum and ascending colon in preterm babies (1. The condition is typically seen in premature infants, and the timing of its onset is generally inversely proportional to the gestational age of the baby at birth, i.e. The earlier a baby is born, longer is the time of risk for NEC in premature babies. The incidence of NEC is inversely proportional to the gestational age and birth weight (2. Baby have initial symptoms which include feeding intolerance, increased gastric residuals, abdominal distension and bloody stools (3. The laboratory triad includes metabolic acidosis, hyponatremia and thrombocytopenia. Pneumatosis intestinalis is the pathognomonic radiological finding in the NEC. Modified Bell’s staging is used to stage the NEC. Treatment involves Nil per Oral, supportive care, antibiotics, surgery in advanced stages and parenteral nutrition (4,5. Complication of NEC includes mortality, prolonged NICU stay, intestinal strictures, enterocutaneous fistula, intra-abdominal abscess, cholestasis, and short-bowel syndrome (6,7, neurodevelopmental, motor, sensory, and cognitive problems (8,9.

  20. 早产儿胎龄和体重对儿童糖尿病的预测作用%Study on the Prediction Function of Gestational Age and Body Weight of Premature Infants on Diabetes in C hildren

    Institute of Scientific and Technical Information of China (English)

    陈召金; 黎见乐; 姚慧梅; 兰红霞

    2014-01-01

    目的:探究并分析早产儿胎龄和体重对儿童糖尿病的预测作用。方法回顾性分析200例早产儿的临床资料。按照早产儿的胎龄分为A1、A2、A3、A4组,根据出生体重分为B1、B2、B3、B4组,根据喂养方式分为C1、C2、C3组。跟踪随访15年后,记录早产儿儿童糖尿病的发病率。结果28~30周胎龄组早产儿儿童糖尿病发病率为80.0%,明显高于其他胎龄组;出生体重≤999 g早产儿发病率为80.0%,较其他组早产儿高;人工喂养组早产儿发病率为60.8%,明显高于其余两组(P均<0.05),具有统计学意义。结论儿童糖尿病的发病率与早产儿胎龄和出生体重密切相关。%Objective To explore and analyze the prediction function of gestational age and body weight of premature infants on diabetes in children .Methods The retrospective analysis of clinical data was taken ,in-cluding 200 cases of premature infants .According to their gestational age ,they were divided into A1,A2,A3, A4 four groups,with B1 ,B2,B3,B4 four groups according to their birth weight ,C1,C2,C3 three groups accord-ing to the feeding patterns .After a follow-up visit for 15 years,records were written down on the incidences of diabetes in these children .Re sults The incidence of diabetes was 80%in group of premature infants with 28~30 weeks'gestational age ,significantly higher than other age groups .So was the morbidity rate of those with birth weight ≤999g,which accounted for 80.0%.The morbidity rate of premature infants ,who were treated with arti-ficial feeding was 60.8%,significantly higher than the other two groups (P<0.05).Besides,the morbidity rate in group of infants with non-nutritive sucking accounted for 50 .9%.Conclusion The incidence of diabetes in children is closely related to the gestational age and birth weight of these premature infants .

  1. Hydrogen sulfide restores a normal morphological phenotype in Werner syndrome fibroblasts, attenuates oxidative damage and modulates mTOR pathway

    NARCIS (Netherlands)

    Talaei, F.; van Praag, V. M.; Henning, R. H.

    2013-01-01

    Werner syndrome (WS) protein is involved in DNA repair and its truncation causes Werner syndrome, an autosomal recessive genetic disorder with a premature aging phenotype. WRN protein mutation is currently known as the primary cause of WS. In cultured WS fibroblasts, we found an increase in cytosoli

  2. Hydrogen sulfide restores a normal morphological phenotype in Werner syndrome fibroblasts, attenuates oxidative damage and modulates mTOR pathway

    NARCIS (Netherlands)

    Talaei, F.; van Praag, V. M.; Henning, R. H.

    2013-01-01

    Werner syndrome (WS) protein is involved in DNA repair and its truncation causes Werner syndrome, an autosomal recessive genetic disorder with a premature aging phenotype. WRN protein mutation is currently known as the primary cause of WS. In cultured WS fibroblasts, we found an increase in cytosoli

  3. Aortic valve replacement for aortic stenosis with a small aortic annulus in a patient having Werner's syndrome and liver cirrhosis.

    Science.gov (United States)

    Sogawa, M; Kasuya, S; Yamamoto, K; Koshika, M; Oguma, F; Hayashi, J

    2001-12-01

    Werner's syndrome is a rare genetic disease characterized by premature aging and scleroderma-like involvement of the skin. We report a case of aortic valve replacement for severely calcified aortic valve stenosis with a small annulus in a patient suffering from Werner's syndrome and liver cirrhosis

  4. The ups and downs of mutation frequencies during aging can account for the Apert syndrome paternal age effect.

    Science.gov (United States)

    Yoon, Song-Ro; Qin, Jian; Glaser, Rivka L; Jabs, Ethylin Wang; Wexler, Nancy S; Sokol, Rebecca; Arnheim, Norman; Calabrese, Peter

    2009-07-01

    Apert syndrome is almost always caused by a spontaneous mutation of paternal origin in one of two nucleotides in the fibroblast growth factor receptor 2 gene (FGFR2). The incidence of this disease increases with the age of the father (paternal age effect), and this increase is greater than what would be expected based on the greater number of germ-line divisions in older men. We use a highly sensitive PCR assay to measure the frequencies of the two causal mutations in the sperm of over 300 normal donors with a wide range of ages. The mutation frequencies increase with the age of the sperm donors, and this increase is consistent with the increase in the incidence rate. In both the sperm data and the birth data, the increase is non-monotonic. Further, after normalizing for age, the two Apert syndrome mutation frequencies are correlated within individual sperm donors. We consider a mathematical model for germ-line mutation which reproduces many of the attributes of the data. This model, with other evidence, suggests that part of the increase in both the sperm data and the birth data is due to selection for mutated premeiotic cells. It is likely that a number of other genetic diseases have similar features.

  5. The ups and downs of mutation frequencies during aging can account for the Apert syndrome paternal age effect.

    Directory of Open Access Journals (Sweden)

    Song-Ro Yoon

    2009-07-01

    Full Text Available Apert syndrome is almost always caused by a spontaneous mutation of paternal origin in one of two nucleotides in the fibroblast growth factor receptor 2 gene (FGFR2. The incidence of this disease increases with the age of the father (paternal age effect, and this increase is greater than what would be expected based on the greater number of germ-line divisions in older men. We use a highly sensitive PCR assay to measure the frequencies of the two causal mutations in the sperm of over 300 normal donors with a wide range of ages. The mutation frequencies increase with the age of the sperm donors, and this increase is consistent with the increase in the incidence rate. In both the sperm data and the birth data, the increase is non-monotonic. Further, after normalizing for age, the two Apert syndrome mutation frequencies are correlated within individual sperm donors. We consider a mathematical model for germ-line mutation which reproduces many of the attributes of the data. This model, with other evidence, suggests that part of the increase in both the sperm data and the birth data is due to selection for mutated premeiotic cells. It is likely that a number of other genetic diseases have similar features.

  6. The Effects of Fetal Surgery on Retinopathy of Prematurity Development

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    Sudha Nallasamy

    2009-10-01

    Full Text Available Background: Fetal surgery is selectively offered for severe or life-threatening fetal malformations. These infants are often born prematurely and are thus at risk for retinopathy of prematurity (ROP. It is not known whether fetal surgery confers an increased risk of developing severe ROP relative to published rates in standard premature populations ≤37 weeks of age grouped by birth weight (

  7. Micafungin in Premature and Non-premature Infants

    Science.gov (United States)

    Wu, Chunzhang; Tweddle, Lorraine; Roilides, Emmanuel

    2014-01-01

    Background: Invasive fungal infections cause excessive morbidity and mortality in premature neonates and severely ill infants. Methods: Safety and efficacy outcomes of micafungin were compared between prematurely and non-prematurely born infants premature [birth weight (BW) premature, received ≥1 dose of micafungin. Among premature patients, 14.5% were low BW (1500–2499 g), 36.4% very low BW (1000–1499 g) and 49.1% extremely low BW (premature)] died. Significantly more non-premature than premature patients discontinued treatment (P = 0.003). Treatment-related adverse events were recorded in 23% of patients with no difference between groups. More extremely low BW (n = 4, 15%) and very low BW (n = 8, 40%) infants experienced treatment-related adverse events than low BW (n = 0) and there was no relation to micafungin dose or duration. For a subgroup of 30 patients with invasive candidiasis, treatment success was achieved in 73% in both premature and non-premature groups. Prophylaxis was successful in 4/5 non-premature hematopoietic stem cell transplant patients. Conclusion: Micafungin has a safe profile in premature and non-premature infants with substantial efficacy. PMID:24892849

  8. Effect of the Aged Garlic Extract on Cardiovascular Function in Metabolic Syndrome Rats

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    Israel Pérez-Torres

    2016-10-01

    Full Text Available The antioxidant properties of aged garlic extract (AGE on cardiovascular functioning (CF in metabolic syndrome (MS remains poorly studied. Here we study the AGE effects on CF in a rat model of MS. Control rats plus saline solution (C + SS, MS rats (30% sucrose in drinking water from weaning plus saline solution (MS + SS, control rats receiving AGE (C + AGE 125 mg/Kg/12 h and MS rats with AGE (MS + AGE were studied. MS + SS had increased triglycerides, systolic blood pressure, insulin, leptin, HOMA index, and advanced glycation end products. AGE returned their levels to control values (p < 0.01. Cholesterol was decreased by AGE (p = 0.05. Glutathion and GPx activity were reduced in MS + SS rats and increased with AGE (p = 0.05. Lipid peroxidation was increased in MS + SS and AGE reduced it (p = 0.001. Vascular functioning was deteriorated by MS (increased vasocontraction and reduced vasodilation and AGE improved it (p = 0.001. Coronary vascular resistance was increased in MS rats and AGE decreased it (p = 0.001. Cardiac performance was not modified by MS but AGE increased it. NO measured in the perfusate liquid from the heart and serum citrulline, nitrites/nitrates were decreased in MS and AGE increased them (p < 0.01. In conclusion, AGE reduces MS-induced cardiovascular risk, through its anti-oxidant properties.

  9. Recall Memory in Children with Down Syndrome and Typically Developing Peers Matched on Developmental Age

    Science.gov (United States)

    Milojevich, H.; Lukowski, A.

    2016-01-01

    Background: Whereas research has indicated that children with Down syndrome (DS) imitate demonstrated actions over short delays, it is presently unknown whether children with DS recall information over lengthy delays at levels comparable with typically developing (TD) children matched on developmental age. Method: In the present research, 10…

  10. Ageing and Dementia in a Longitudinal Study of a Cohort with Down Syndrome

    Science.gov (United States)

    Carr, Janet; Collins, Suzanne

    2014-01-01

    Background: A population sample of people with Down syndrome has been studied from infancy and has now been followed up again at age 47 years. Methods: Intelligence and language skills were tested and daily living skills assessed. Memory/cognitive deterioration was examined using two test instruments. Results: Scores on verbal tests of…

  11. Lifetime Prevalence, Age of Risk, and Genetic Relationships of Comorbid Psychiatric Disorders in Tourette Syndrome

    NARCIS (Netherlands)

    Hirschtritt, Matthew E; Lee, Paul C; Pauls, David L; Dion, Yves; Grados, Marco A; Illmann, Cornelia; King, Robert A; Sandor, Paul; McMahon, William M; Lyon, Gholson J; Cath, Danielle C; Kurlan, Roger; Robertson, Mary M; Osiecki, Lisa; Scharf, Jeremiah M; Mathews, Carol A

    2015-01-01

    IMPORTANCE: Tourette syndrome (TS) is characterized by high rates of psychiatric comorbidity; however, few studies have fully characterized these comorbidities. Furthermore, most studies have included relatively few participants (<200), and none has examined the ages of highest risk for each TS-asso

  12. Onset of Dyspraxia in Aging Persons with Down Syndrome: Longitudinal Studies.

    Science.gov (United States)

    Dalton, Arthur J.; Fedor, Bettye L.

    1998-01-01

    Because dyspraxia (partial loss of the ability to perform purposeful motor acts) is an early symptom of Alzheimer disease, a 62-item dyspraxia scale adapted for adults with Down syndrome (DS) was developed. Use of the measure over 3.5 years with 72 DS individuals (age 40 or older) found statistically significant deterioration that suggested…

  13. Ageing and Dementia in a Longitudinal Study of a Cohort with Down Syndrome

    Science.gov (United States)

    Carr, Janet; Collins, Suzanne

    2014-01-01

    Background: A population sample of people with Down syndrome has been studied from infancy and has now been followed up again at age 47 years. Methods: Intelligence and language skills were tested and daily living skills assessed. Memory/cognitive deterioration was examined using two test instruments. Results: Scores on verbal tests of…

  14. Premature temporal theta (PT theta).

    Science.gov (United States)

    Hughes, J R; Fino, J J; Hart, L A

    1987-07-01

    A distinctive pattern called premature temporal theta (PT theta) was studied in 436 infants, ranging in age from 24 to 46 weeks. The pattern is seen in early prematurity, maximizes at 29-31 weeks and then diminishes and disappears near term. Usually the pattern is found independently on both temporal areas, but with a right-sided preference. Patients without PT theta or with a significantly low amount had either neurological or non-neurological (medical) conditions. With age there is a tendency for an increase in frequency and a decrease in amplitude. Five different peaks in the amount of this pattern are seen at approximately every month. Unilateral PT theta tends to be seen in older babies, more often on the right side and with an abnormal EEG. An abnormal EEG is usually associated with a delay in both the appearance and disappearance of this wave form. PT theta is also associated mainly with REM or active sleep. A polynomial rather than an exponential or power function best describes these data with changes of age. PT theta may arise from the inferior temporal gyrus and/or especially the transverse gyrus.

  15. Sick building syndrome: A disease of modern age

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    Nikić Dragana

    2004-01-01

    Full Text Available Sick building syndrome (SBS is a term used to describe situation in building when more than 30% of occupants suffer from various symptoms which tend to increase by severity during the time people spend in "sick" building and disappear when they leave the building. Typical cases of SBS report vague symptoms, which cannot be objectively measured, and sufferers usually show no clinical signs of illness. Symptom heterogeneity suggests that they do not represent a single disorder. The objective of our study was to establish if SBS is present in our town because new buildings have been built lately producing the artificial environment - exclusively artificial lightning and mechanical ventilation. A total of 812 subjects were included in our study. The investigation of SBS was performed by standardized questionnaires to determine the prevalence of symptoms and complaints. Questionnaires were used to collect data on perception of environment conditions and health during the period they work in this building. The subjects were divided in three groups according to sex, level of education and ownership. Our data suggested that the incidence of symptoms was higher in employers than in owners of the offices. Moreover, the prevalence of SBS was very high - up to 74.76%. It is obvious that certain physical, psychological and organizational factors are involved in the incidence of symptoms, but our investigation suggests that physical factor has a dominant role in development of symptoms, particularly low humidity and low air flow. In addition, our judgment is that SBS exists in our city, probably in the whole country and, therefore, it must be investigated properly.

  16. Executive functioning in Cornelia de Lange syndrome: domain asynchrony and age-related performance.

    Science.gov (United States)

    Reid, Donna; Moss, Jo; Nelson, Lisa; Groves, Laura; Oliver, Chris

    2017-01-01

    The aim of this study was to examine executive functioning in adolescents and adults with Cornelia de Lange syndrome (CdLS) to identify a syndrome and age-related profile of cognitive impairment. Participants were 24 individuals with CdLS aged 13-42 years (M = 22; SD = 8.98), and a comparable contrast group of 21 individuals with Down syndrome (DS) aged 15-33 years (M = 24; SD = 5.82). Measures were selected to test verbal and visual fluency, inhibition, perseverance/flexibility, and working memory and comprised both questionnaire and performance tests. Individuals with CdLS showed significantly greater impairment on tasks requiring flexibility and inhibition (rule switch) and on forwards span capacity. These impairments were also reported in the parent/carer-rated questionnaire measures. Backwards Digit Span was significantly negatively correlated with chronological age in CdLS, indicating increased deficits with age. This was not identified in individuals with DS. The relative deficits in executive functioning task performance are important in understanding the behavioural phenotype of CdLS. Prospective longitudinal follow-up is required to examine further the changes in executive functioning with age and if these map onto observed changes in behaviour in CdLS. Links with recent research indicating heightened responses to oxidative stress in CdLS may also be important.

  17. Parental age and unbalanced Robertsonian translocations associated with Down syndrome and Patau syndrome: comparison with maternal and paternal age effects for 47, +21 and 47, +13.

    Science.gov (United States)

    Hook, E B

    1984-10-01

    Data are analysed on livebirths with trisomic syndromes associated with unbalanced Robertsonian translocations born from 1968 to 1981 and reported to the New York State Chromosome Registry. The maternal ages of reported cases were compared with those of the livebirths in the general population who were born in the same year. The number of translocations studied, the mean case-control differences in years in maternal age (and the standard errors of the mean) were respectively, as follows: D/21 mutants, n = 36, -0.1 (+/- 0.9); G/21 mutants, n = 46, +1.5 (+/-0.8); D/13 mutants, n = 16, +0.6 (+/-1.5); D/21 inherited, n = 12, -1.0 (+/-1.4); G/21 inherited, n = 3, -0.3 (+/-4.4); and D/13 inherited, n = 6, +2.1 (+/-2.4). There was little change in any category if the few cases diagnosed prenatally were included. Only the value for the G/21 mutants is significantly different from zero at the 0.05 level. (The results on G/21 mutants in maternal age are consistent with an earlier Japanese report of an increase of about 2 years over the control values.) The distribution of maternal ages suggests that G/21 mutants may be produced both by maternal age-independent and maternal age-dependent components. The data on D/21 mutants, however, do not indicate the negative association with maternal age reported in Japan. Differences between this study and the Japanese study in analyses of controls may explain this slight variation. But in any event both studies reveal no evidence for an increase in maternal age for unbalanced D/21 mutant or D/21 inherited translocations associated with Down syndrome. This is evidence against the hypothesis that relaxed selection during gestation, after recognition of pregnancy, accounts for the maternal age effects of 47, +21. In comparison with the results on Robertsonian translocations, the case-control differences in maternal age in years (and the standard errors of the mean) for 47, +21 for 2148 livebirths was +4.6 (+/-0.2), and for 2354 cases

  18. Progeria syndrome: A case report

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    Rastogi Rajul

    2008-01-01

    Full Text Available Progeria is a rare and peculiar combination of dwarfism and premature aging. The incidence is one in several million births. It occurs sporadically and is probably an autosomal recessive syndrome. Though the clinical presentation is usually typical, conventional radiological and biochemical investigations help in confirming the diagnosis. We present a rare case of progeria with most of the radiological features as a pictorial essay.

  19. COMPUTER EYE SYNDROME IN CHILDREN AGED 3 TO 6 YEARS

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    Krasina P. Valcheva

    2016-03-01

    Full Text Available Purpose: To detect visual disturbances, major symptoms and relationship between them in children between the ages of 3 and 6 years, who spend some time in front of a computer. Material/Methods: In the present study 2823 children attending 23 kindergartens in the city of Pleven, were given inquiry cards. Those with completed questionnaires were examined for visual acuity and convergence. In cases with low vision the children were invited for a detailed eye examination in the Eye Clinic at the University Hospital "Dr George Stranski" - Pleven. Results: A total of 2332 children responded and were examined (1174 girls and 1158 boys. The age of children is from 3 to 6 years. We found 303 children with subjective complaints in a close work, 163 with low vision and 18 with impaired convergence. Regarding the duration of stay in front of a computer – 159 children stay over 3 hours a day in front of video display, 1228 children spend about 1 hour a day in front of a computer and 945 children do not play on a computer. Conclusion: Nowadays more and more children use computers for recreational purposes at home. From our study it became clear that preschool children overuse their stay in front of computer.

  20. Predictive factors for neuromotor abnormalities at the corrected age of 12 months in very low birth weight premature infants Fatores preditivos para anormalidades neuromotoras aos 12 meses de idade corrigida em prematuros de muito baixo peso

    Directory of Open Access Journals (Sweden)

    Rosane Reis de Mello

    2009-06-01

    Full Text Available BACKGROUND: The increase in survival of premature newborns has sparked growing interest in the prediction of their long-term neurodevelopment. OBJECTIVE: To estimate the incidence of neuromotor abnormalities at the corrected age of 12 months and to identify the predictive factors associated with altered neuromotor development in very low birth weight premature infants. METHOD: Cohort study. The sample included 100 premature infants. The outcome was neuromotor development at 12 months classified by Bayley Scale (PDI and neurological assessment (tonus, reflexes, posture. A multivariate logistic regression model was constructed. Neonatal variables and neuromotor abnormalities up to 6 months of corrected age were selected by bivariate analysis. RESULTS: Mean birth weight was 1126g (SD: 240. Abnormal neuromotor development was presented in 60 children at 12 months corrected age. CONCLUSION: According to the model, patients with a diagnosis including bronchopulmonary dysplasia, hypertonia of lower extremities, truncal hypotonia showed a 94.0% probability of neuromotor involvement at 12 months.INTRODUÇÃO: O aumento na sobrevida de recém-nascidos prematuros tem suscitado interesse crescente na predição do seu neurodesenvolvimento a longo prazo. OBJETIVO: Estimar a incidência de anormalidades neuromotoras aos 12 meses de idade corrigida e identificar os fatores associados ao desenvolvimento neuromotor alterado em prematuros de muito baixo peso. MÉTODO: Estudo de coorte. A amostra incluiu 100 crianças prematuras.O desfecho foi o desenvolvimento neuromotor aos 12 meses. Modelo de regressão logística multivariado foi construído. Variáveis neonatais e anormalidades neuromotoras até os 6 meses de idade corrigida foram selecionadas por análise bivariada. RESULTADOS: O peso de nascimento médio foi 1126g (DP:240. Aos 12 meses 60% das crianças apresentaram desenvolvimento neuromotor alterado. CONCLUSÃO: De acordo com o modelo, pacientes com diagn

  1. Metabolic syndrome and dementia associated with Parkinson's disease: impact of age and hypertension

    Directory of Open Access Journals (Sweden)

    Arthur Oscar Schelp

    2012-02-01

    Full Text Available OBJECTIVE: To determine correlations between age and metabolic disorders in Parkinson's disease (PD patients. METHODS: This observational cross-sectional study included brief tests for dementia and the Mattis test. Signals of metabolic syndrome were evaluated. RESULTS: There was no significant effect from the presence of hypertension (OR=2.36 for patients under 65 years old and OR=0.64 for patients over 65, diabetes or hypercholesterolemia regarding occurrences of dementia associated with PD (24% of the patients. The study demonstrated that each year of age increased the estimated risk of dementia in PD patients by 9% (OR=1.09; 95%CI: 1.01-1.17. CONCLUSION: There was no evidence to correlate the presence of metabolic syndrome with the risk of dementia that was associated with PD. The study confirmed that dementia in PD is age dependent and not related to disease duration.

  2. [Application of massage therapy in premature infant nursing care].

    Science.gov (United States)

    Chang, Shu-Min; Sung, Huei-Chuan

    2007-02-01

    Massage therapy has been used in the care of premature infants for many years in western countries, and a significant body of research has already shown the effectiveness of massage therapy in significantly increasing body weight, decreasing infant hospital durations, enhancing bone formation, and improving behavior. Key considerations when applying massage therapy on premature infants include gestational age, bodyweight, and physical condition. Nurses can teach parents to administer massage therapy on their premature infants to enhance parent-child attachment and interaction. This article introduces massage therapy principles and methods, the effectiveness of massage therapy in premature infant care, and an approach to teaching parents how to apply massage therapy on their premature infants. Massage therapy can be included in premature infant care programs in the future.

  3. [Developmental change in facial recognition by premature infants during infancy].

    Science.gov (United States)

    Konishi, Yukihiko; Kusaka, Takashi; Nishida, Tomoko; Isobe, Kenichi; Itoh, Susumu

    2014-09-01

    Premature infants are thought to be at increased risk for developmental disorders. We evaluated facial recognition by premature infants during early infancy, as this ability has been reported to be impaired commonly in developmentally disabled children. In premature infants and full-term infants at the age of 4 months (4 corrected months for premature infants), visual behaviors while performing facial recognition tasks were determined and analyzed using an eye-tracking system (Tobii T60 manufactured by Tobii Technologics, Sweden). Both types of infants had a preference towards normal facial expressions; however, no preference towards the upper face was observed in premature infants. Our study suggests that facial recognition ability in premature infants may develop differently from that in full-term infants.

  4. Premature Coronary Heart Disease and Traditional Risk Factors-Can We Do Better?

    Directory of Open Access Journals (Sweden)

    Roxana Sadeghi

    2013-06-01

    Full Text Available Background: Traditional cardiovascular risk factors are strong predictors of an increased likelihood for premature CHD. Considering the benefits of risk factors᾿ management, it is imperative to find and treat them before looking for more unknown and weak risk factors. Objectives: Limited information is available about the demographic and historical characteristics of the patients with premature Coronary Heart Disease (CHD in IR Iran. The main objective of this study was to determine the prevalence of the traditional risk factors in these patients. Also, the researchers hypothesized that there are insufficient risk assessment and preventive intervention methods for the asymptomatic adult population. Methods: This study was conducted on 125 patients with premature CHD (age<50 years who were admitted in two academic hospitals with acute coronary syndromes. The patients were accepted since they had a definite CHD on the basis of acute myocardial infarction (elevated cardiac enzymes or documented CAD in coronary angiography. Results: The mean age of the study population was 42.50±5.65 (26 to 49 years. Among the patients,92 (73.6% were male, 113 (90.4% were married, 58 (46.4% were smokers,19 (15.2% were opium users, 97 (77.6% had dyslipidemia, 44 (35.2% had hypertension, and 33 (26.4% had diabetes mellitus. In addition, family history was presented in 54 patients (43.2%. Conclusions: Premature Coronary Heart Disease is a public health problem. However, there is lack of effective and intensive treatments of well-defined traditional risk factors and prevention methods for the majority of the patients experiencing premature CHD. In sum, there is still plenty of room for improvement of risk management in IR Iran.

  5. Lipid profile of women with premature ovarian failure

    NARCIS (Netherlands)

    Knauff, Erik A. H.; Westerveld, Hendrika E.; Goverde, Angelique J.; Eijkemans, Marinus J.; Valkenburg, Olivier; van Santbrink, Evert J. P.; Fauser, Bart C. J. M.; van der Schouw, Yvonne T.

    2008-01-01

    Objective: Earlier menopause is associated with a higher incidence of cardiovascular events later in life. Concurrent with the ages of menopausal transition, a shift in lipid profile takes place. Premature ovarian failure (POF) or premature menopause allows LIS to Study the effect of cessation of

  6. INHA promoter polymorphisms are associated with premature ovarian failure.

    Science.gov (United States)

    Harris, Sarah E; Chand, Ashwini L; Winship, Ingrid M; Gersak, Ksenija; Nishi, Yoshihiro; Yanase, Toshihiko; Nawata, Hajime; Shelling, Andrew N

    2005-11-01

    Inhibin is an important glycoprotein that is involved in folliculogenesis. INHA, the gene encoding the inhibin alpha subunit, was recently proposed as a candidate for premature ovarian failure (POF), a syndrome that leads to the cessation of ovarian function under the age of 40 years. 70 POF patients and 70 controls were screened for the previously identified INHA -16C>T transition mutation. The T allele was found in 31/70 (44.3%) of controls, but only 18/70 (25.7%) of POF patients. This result indicates that the T allele is significantly underrepresented in the POF patient population (Fisher's exact test, two-tail: P = 0.033). Sequence analysis of the INHA promoter in 50 POF patients and 50 controls identified a highly polymorphic imperfect TG repeat at approximately -300 bp, that consisted of four common haplotypes (A, B, C and D). The -16T allele is linked to the shortest repeat haplotype (haplotype C). Despite the association between haplotype C and POF, no significant difference was found between the promoter activity of a luciferase reporter construct containing haplotype C, and most of the other haplotypes tested. Interestingly, haplotype B failed to show any promoter activity. We conclude that the inheritance of specific INHA promoter haplotypes predispose to the development of premature ovarian failure.

  7. VACCINATION OF PREMATURE INFANTS AND CHILDREN WITH CONGENITAL HEART DISEASE IN IRKUTSK USING CONJUGATED PNEUMOCOCCAL VACCINES

    Directory of Open Access Journals (Sweden)

    S. V. Il'ina

    2013-01-01

    Full Text Available Study aim: analyzing the results of pneumococcal infection vaccination conducted to reduce infantile morbidity and mortality in 2011-2012 at the expenses of the Irkutsk municipal budget. Patients and methods. Vaccination using the 7- and 13-valent pneumococcal conjugated vaccine was conducted for more than 700 risk group children: premature infants, children with congenital heart diseases or bronchopulmonary dysplasia from 2 months to 2 years of age. 193 vaccinated children had been observed for 1.5 years. 30% of premature infants and 46% of children with congenital heart diseases were vaccinated using the PCV7/PCV13 vaccine at the age of 2-6 months, 52 and 40% - at the age of 7-11 months, accordingly. The PCV7/PCV13 vaccine was administered together with other vaccines of the national preventive vaccination calendar in 65% of cases. Results. Rate of general post-vaccinal reactions (body temperature increase from 37.6 to 38.0oC – 4%; no local reactions were registered. No other unfavorable phenomena were noted in the post-vaccinal period. No cases of pneumonia, meningitis, acute otitis media and bronchoobstructive syndrome were registered within the observation period. Conclusions: pneumococcal infection vaccination of premature infants with congenital heart diseases and bronchopulmonary dysplasia conducted in Irkutsk proved high efficacy and safety of the used vaccine – PCV7/PCV13. 

  8. Is "Delayed Umbilical Cord Clamping" Beneficial for Premature Newborns?

    Directory of Open Access Journals (Sweden)

    Amir-Mohammad Armanian

    2017-05-01

    Full Text Available Background: The appropriate moment for clamping the umbilical cord is controversial. Immediate cord clamping (ICC is an item of active management of the third stage of labor (AMTSL. Unclamped umbilical cord may cause inconvenience in preterm neonates because they commonly need some levels of emergent services. Some studies revealed delayed cord clamping (DCC of preterm neonates results in better health conditions like lower rates of respiratory distress syndrome (RDS, less morbidities in labor room and lower risk of postpartum hemorrhage. The aim of the present study was to determine the effect of delayed umbilical cord clamping on premature neonatal outcomes. Materials and Methods: In this single‑center randomized control trial study, sixty premature neonates (gestational age ≤ 34 weeks were randomly assigned to ICC (cord clamped at 5–10 seconds or DCC (30–45 seconds groups and followed up in neonatal intensive care unit (NICU. Primary outcomes were 1st and 5th minute Apgar score, average of level of hematocrit after birth, intra ventricle hemorrhage and need some levels of resuscitation. Results: Differences in demographic characteristics were not statistically significant. After birth, neonates who had delayed clamping had significantly higher mean hematocrit after at 4-hour of birth (49.58+5.15gr/dl vs. 46.58+5.40gr/dlin DCC vs. ICC groups, respectively (P=0.031. Delayed cord clamping reduced the duration of need to nasal continues positive airway pressure (NCPAP (86.7% and 60.0% in ICC and DCC groups, respectively, P= 0.039. Attractively, the results showed lower incidence of clinical sepsis in delayed cord clamping neonates (53.3% vs. 23.3% in ICC and DCC groups, respectively, P=0.033. Conclusion: Prematurity complications might decrease by delay umbilical cord clamping which improve the hematocrit, duration of need to NCPAP and incidence of clinical sepsis. Furthermore, DCC may have no negative impact on neonatal resuscitation.

  9. Calcium deficit in diet as risk factor for osteopenic syndrome in pregnant women of young age

    Directory of Open Access Journals (Sweden)

    Saule Kabylova

    2010-07-01

    Full Text Available The study features of bone tissue mineral density and their correlation with bloodlevels of calcium, magnesium and non-organic phosphorus in young pregnantwomen. Clinical and ambulatory examination of 120 pregnant women of ages 16-25 was made. Estimation of bone tissue mineral density and blood levels ofcalcium, phosphorus and magnesium was performed during the pregnancy stageof 12 to 28 weeks. Among young pregnant women during II trimester, rate ofosteopenic syndrome amounts to 17.5%, including osteoporosis of 1.7%.Development of osteopenic syndrome is attributed to general blood calciumdeficiency. Development of osteopenic syndrome in young pregnant women isassociated with decreased dietary consumption of calcium (owing to exclusion ofmilk products. Bone tissue mineral density is directly correlated with bloodplasma levels of calcium.

  10. A predictive model for respiratory syncytial virus (RSV hospitalisation of premature infants born at 33–35 weeks of gestational age, based on data from the Spanish FLIP study

    Directory of Open Access Journals (Sweden)

    Figueras-Aloy Jose

    2008-12-01

    Full Text Available Abstract Background The aim of this study, conducted in Europe, was to develop a validated risk factor based model to predict RSV-related hospitalisation in premature infants born 33–35 weeks' gestational age (GA. Methods The predictive model was developed using risk factors captured in the Spanish FLIP dataset, a case-control study of 183 premature infants born between 33–35 weeks' GA who were hospitalised with RSV, and 371 age-matched controls. The model was validated internally by 100-fold bootstrapping. Discriminant function analysis was used to analyse combinations of risk factors to predict RSV hospitalisation. Successive models were chosen that had the highest probability for discriminating between hospitalised and non-hospitalised infants. Receiver operating characteristic (ROC curves were plotted. Results An initial 15 variable model was produced with a discriminant function of 72% and an area under the ROC curve of 0.795. A step-wise reduction exercise, alongside recalculations of some variables, produced a final model consisting of 7 variables: birth ± 10 weeks of start of season, birth weight, breast feeding for ≤ 2 months, siblings ≥ 2 years, family members with atopy, family members with wheeze, and gender. The discrimination of this model was 71% and the area under the ROC curve was 0.791. At the 0.75 sensitivity intercept, the false positive fraction was 0.33. The 100-fold bootstrapping resulted in a mean discriminant function of 72% (standard deviation: 2.18 and a median area under the ROC curve of 0.785 (range: 0.768–0.790, indicating a good internal validation. The calculated NNT for intervention to treat all at risk patients with a 75% level of protection was 11.7 (95% confidence interval: 9.5–13.6. Conclusion A robust model based on seven risk factors was developed, which is able to predict which premature infants born between 33–35 weeks' GA are at highest risk of hospitalisation from RSV. The model could be

  11. Laterality in Prematurely-Born Children.

    Science.gov (United States)

    Segalwitz, Sidney J.; Chapman, Jacqueline S.

    The study examined the relationship between perinatal stress and decreased right handedness and decreased left cerebral dominance for speech with 215 children born prematurely, followed from birth, and tested at age 5. Results indicated that neither hand preference nor hand performance correlated with degree of perinatal stress and that eye…

  12. INCIDENCE OF STUTTERING IN SCHOOL-AGE CHILDREN WITH DOWN SYNDROME

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    Nevzeta SALIHOVIĆ

    2012-03-01

    Full Text Available The main purpose of this study was to examine the incidence (frequency and stuttering severity in the school-age children with Down syndrome. The sample was consisted of 37 school-age children with Down syndrome, both male and female. The study was conducted in the following institutions: Institute of Special Education and Rehabilitation for Children with Intellectual Disabilities "Mjedenica"; Centre for Education, Training and Employment of Mentally Retarded Children, Children with Autism and Cerebral palsy "Vladimir Nazor" in Sarajevo; Primary School of Special Education „Zenica“; Primary school "Kovačići" Sarajevo; "Association of United Civic Actions – DUGA" in Sarajevo; and The Association "Be my friend" in Ilijaš. All of the subjects were individually examined. The results showed that 13,51 % of the children with Down syndrome stuttered, and the total result of stuttering severity indicates a moderate stuttering. These results show that children with Down syndrome should be enrolled intensively in speech therapy in order to help them overcome their stuttering, to facilitate their everyday communication and to teach them how to cope with stuttering.

  13. [Prematurity risk according to prematurity risk score and postpartal morbidity of the newborn infants (author's transl)].

    Science.gov (United States)

    Coradello, H; Lubec, G; Simbruner, G

    1981-02-01

    Risk of premature birth was evaluated retrospectively in 610 women in the first days after delivery using the prematurity risk score published by Thalhammer 1973. The calculated risk of premature birth was compared than prospectively to postpartal morbidity of the newborn infants as determined by duration of hospital stay, incidence of respiratory distress syndrome, need of artificial ventilation and mortality. A positive correlation could be found between risk of premature birth and postpartal morbidity of the newborn infants especially in small premature infants with birthweights of 2000 grams and less. The same correlation existed also in two groups of infants out of two different obstetric clinics which showed the same distribution of prenatal risks and the same prenatal care frequencies. It clearly becomes evident that infants with the same prenatal risks but good prenatal care during pregnancy had much lower hospital stays, lower respiratory distress frequencies and lower mortality rates than babies delivered from pregnancies badly cared for. These prenatal care related differences in postpartum morbidity again were much more evident in infants out of lower birth weight classes.

  14. Moderate physical activity level as a protective factor against metabolic syndrome in middle-aged and older women.

    Science.gov (United States)

    Lin, Chia-Huei; Chiang, Shang-Lin; Yates, Patsy; Lee, Meei-Shyuan; Hung, Yi-Jen; Tzeng, Wen-Chii; Chiang, Li-Chi

    2015-05-01

    To investigate whether physical activity is a protective factor against metabolic syndrome in middle-aged and older women. Socio-demographic and lifestyle behaviour factors contribute to metabolic syndrome. To minimise the risk of metabolic syndrome, several global guidelines recommend increasing physical activity level. However, only limited research has investigated the relationship between physical activity levels and metabolic syndrome in middle-aged and older women after adjusting for socio-demographic and lifestyle behaviour factors. Cross-sectional design. A convenience sample of 326 middle-aged and older women was recruited. Metabolic syndrome was confirmed according to the National Cholesterol Education Program, Adult Treatment Panel III guidelines, and physical activity levels were measured by the International Physical Activity Questionnaire. The sample had a mean age of 60·9 years, and the prevalence of metabolic syndrome was 43·3%. Postmenopausal women and women with low socioeconomic status (low-education background, without personal income and currently unemployed) had a significantly higher risk of developing metabolic syndrome. After adjusting for significant socio-demographic and lifestyle behaviour factors, the women with moderate or high physical activity levels had a significantly lower (OR = 0·10; OR = 0·11, p socio-demographic and lifestyle behaviour factors, physical activity level was a significant protective factor against metabolic syndrome in middle-aged and older women. Higher physical activity levels (moderate or high physical activity level) reduced the risk of metabolic syndrome in middle-aged and older women. Appropriate strategies should be developed to encourage middle-aged and older women across different socio-demographic backgrounds to engage in moderate or high levels of physical activity to reduce the risk of metabolic syndrome. © 2014 John Wiley & Sons Ltd.

  15. Retinopathy of prematurity: A study of prevalence and risk factors

    Directory of Open Access Journals (Sweden)

    Abdel H. A. A. Hakeem

    2012-01-01

    Full Text Available Background: Retinopathy of prematurity (ROP is a serious complication of prematurity treatment and can lead to blindness unless recognized and treated early. Objective: The objective was to estimate the prevalence of ROP in preterm infants in the Neonatal Intensive Care Unit (NICU, to identify the risk factors which predispose to ROP, and to assess the outcome of these cases. Materials and Methods: A ROP prospective screening survey was performed enrolling all prematures admitted to the NICU from January 2009 to December 2010, with a gestational age of 32 weeks or less at birth and a birth weight of 1500 g or less. Infants whose gestational age was >32 weeks or birth weight was >1500 g were included if they were exposed to oxygen therapy for more than 7 days. A total of 172 infants (84 males and 88 females had retinal evaluation by indirect ophthalmoscopy from the fourth postnatal week and followed up periodically. Perinatal risk factors for ROP were assessed using univariate and multivariate analysis. Infants who progressed to stage 3 ROP were given laser therapy. Results: Out of the studied 172 infants, 33 infants (19.2% developed ROP in one or both eyes; 18 (54.5% cases stage 1, 9 (27.3% cases stage 2, and 6 (18.2% cases stage 3. None of the studied neonates presented ROP at stages 4 or 5. The six cases diagnosed as ROP stage 3 underwent laser ablative therapy. Univariate analysis showed that there was a significant relationship between the occurrence of ROP and gestational age (P = 0.000, sepsis (P = 0.004, oxygen therapy (P = 0.018, and frequency of blood transfusions (P = 0.030. However, an insignificant relationship was found between the occurrence of ROP and sex, mode of delivery, birth weight, respiratory distress syndrome, patent ductus arteriosus, intraventricular hemorrhage, hypotension, phototherapy, duration of oxygen therapy, mechanical ventilation, and CPAP (all P > 0.05. Gestational age, sepsis, oxygen therapy, and frequency of

  16. Psychosis as a late manifestation of Sheehan's syndrome.

    Science.gov (United States)

    Reddy, Mukku Shiva Shanker; Nahar, Abhinav; Thippeswamy, Harish; Kumar, Chaturvedi Santosh

    2017-02-01

    Sheehan's syndrome occurs as a result of ischemic pituitary necrosis due to severe postpartum haemorrhage. It is one of the most common causes of hypopituitarism in underdeveloped or developing countries. Characteristic manifestations include failure to lactate or to resume menses, genital and axillary hair loss, asthenia and weakness, fine wrinkles around the eyes and lips, signs of premature aging, dry skin, hypopigmentation and other evidence of hypopituitarism. Uncommonly it can present with psychosis. There are only few case reports of psychoses in patients with Sheehan's syndrome. Our case report illustrates the relationship between psychosis and Sheehan's syndrome. The treatment challenges in managing Sheehan's syndrome and psychosis are discussed.

  17. Serum fructosamine and retinopathy of prematurity.

    Science.gov (United States)

    Bozdag, Senol; Oguz, Serife Suna; Gokmen, Tulin; Tunay, Zuhal; Tok, Levent; Uras, Nurdan; Erdeve, Omer; Dilmen, Ugur

    2011-12-01

    To determine whether serum fructosamine which is a good marker for detecting hyperglycemia during the previous 2 to 3 wk in infants could predict the development of retinopathy of prematurity in very low birth weight infants. One hundred sixty seven premature infants who had a birth weight of < 1500 g and a gestational age of less than 32 wk were investigated in the present study. Blood glucose was measured at the bedside and infants were recorded as hyperglycemic if their mean blood glucose levels were higher than 150 mg/dL. Serum corrected fructosamine level was obtained from the cord blood at birth and after the first month of life. The infants' eyes were examined by ophthalmologists to detect retinopathy of prematurity at the gestational age of 32 wk or at four wk after birth, whichever came first. Corrected fructosamine was 319.6 ± 59.6 and 272.8 ± 50.6 mmol/l for group 1 on 1(st) and 30(th) day respectively; 320 ± 61.7 and 268.2 ± 47.3 mmol/l for groups 2 + 3 on 1(st) and 30(th) day respectively which did not differ between groups (p = 0.766 and p = 0.665), whereas duration of hyperglycemia was 1.69 ± 1.1 day in group 1 compared with 3.05 ± 2.4 day in groups 2 + 3 which was significantly different (p = 0.019). The multivariate regression analysis indicated that the duration of hyperglycemia in days was significantly correlated with the development of retinopathy of prematurity (OR 3.26; 95% CI 1.09-9.80; p = 0.035). Although the duration of hyperglycemia may contribute to the development of retinopathy of prematurity, serum corrected fructosamine does not have a good predictive value in developing retinopathy of prematurity in very-low-birth-weight (VLBW) infants.

  18. Brain aging and metabolic syndrome: a study in Cenischia Valley (Piedmont).

    OpenAIRE

    Marianna Rinaldi; Giuseppe Graffi; Salvatore Gallone; Emma Rabino Massa

    2011-01-01

    The Metabolic Syndrome (MetS) is a set of conditions, each of which represents a risk factor for cardiovascular disease (central obesity, hyperglycemia, dyslipidemia and hypertension). Recent studies have identified an association between MetS and increased risk of dementia (Vascular Dementia and Late Onset Alzheimer's Disease ). The purpose of our research is the study of brain aging and cognitive decline in a sample of elderly people (n=200) belonging to a rural alpine community, in r...

  19. Oxidative Stress and Mitochondrial Dysfunction in Down’s Syndrome: Relevance to Aging and Dementia

    OpenAIRE

    Coskun, Pinar E; Jorge Busciglio

    2012-01-01

    Genome-wide gene deregulation and oxidative stress appear to be critical factors determining the high variability of phenotypes in Down’s syndrome (DS). Even though individuals with trisomy 21 exhibit a higher survival rate compared to other aneuploidies, most of them die in utero or early during postnatal life. While the survivors are currently predicted to live past 60 years, they suffer higher incidence of age-related conditions including Alzheimer’s disease (AD). This paper is centered on...

  20. Association between 25-hydroxyvitamin D and metabolic syndrome in middle-aged and elderly population

    Institute of Scientific and Technical Information of China (English)

    林寰东

    2013-01-01

    Objective To explore the relationship between vitamin D and metabolic syndrome.Methods A total of 536subjects aged over 45 years old from Shanghai Changfeng community were included.A standard questionnaire,anthropometric parameters,and blood analysis,including lipid,fasting plasma glucose,2 h plasma glucose after oral glucose tolerance test,25-hydroxyvitamin D[25 (OH) D],and parathyroid hormone (PTH) were conducted.Bone mineral content was examined using dual energy

  1. Common variants modify the age of onset for basal cell carcinomas in Gorlin syndrome.

    Science.gov (United States)

    Yasar, Binnaz; Byers, Helen J; Smith, Miriam J; Lear, John; Oudit, Deemesh; Bholah, Zaynab; Roberts, Stephen A; Newman, William G; Evans, D Gareth

    2015-05-01

    Gorlin syndrome is an autosomal dominant disorder, characterized by multiple early-onset basal cell carcinomas (BCCs) and jaw keratocysts. Through association studies in cohorts of sporadic BCC, nine genetic variants have previously been identified to increase the risk of BCC. The nine SNPs were genotyped by Taqman allelic discrimination in 125 individuals with Gorlin syndrome. Kaplan-Meier survival curves and Cox proportional-Hazard regression analysis were applied to determine the association between genotypes and age of first BCC in individuals with Gorlin syndrome. The p.(Arg151Cys) variant in MC1R (rs1805007) was associated with an earlier median age of onset of BCC of 27 years (95% CI: 20-34) compared with 34 years (95% CI: 30-40) for wild-type individuals (hazard ratio (HR)=1.64, 95% CI: 1.04-2.58, P=0.034). The risk allele of the variant at the chromosome 5p15 locus encompassing TERT-CLPTM1L (rs401681) was also associated with an earlier median onset of BCC, 31 years (95% CI: 28-37) compared with 41 years (95% CI: 32-48, HR=1.44, 95% CI: 1.08-1.93, P=0.014). In individuals with a risk allele at either rs1805007 or rs401681 the median time to BCC was 31 years of age (95% CI: 28-34) compared with 44 years of age (95% CI: 38-53) in wild-type individuals (HR=2.48, 95% CI: 1.47-4.17, P=0.0002). Our findings may have implications for future personalized risk estimates and BCC screening strategies in individuals with Gorlin syndrome.

  2. Complete androgen insensitivity syndrome is frequently due to premature stop codons in exon 1 of the androgen receptor gene: an international collaborative report of 13 new mutations.

    Science.gov (United States)

    Philibert, Pascal; Audran, Françoise; Pienkowski, Catherine; Morange, Isabelle; Kohler, Birgit; Flori, Elisabeth; Heinrich, Claudine; Dacou-Voutetakis, Catherine; Joseph, Marie-Geneviève; Guedj, Anne-Marie; Journel, Hubert; Hecart-Bruna, Annie-Claude; Khotchali, Ines; Ten, Svetlana; Bouchard, Philippe; Paris, Françoise; Sultan, Charles

    2010-07-01

    To confirm the clinical diagnosis of complete androgen insensitivity syndrome (CAIS) by molecular genetic analysis and to determine the prevalence of exon 1 mutations in the androgen receptor (AR) transactivation defects of a large series of CAIS patients. International retrospective study. University Hospital of Montpellier, Department of Hormonology. 105 patients with normal female external genitalia, bilateral intra-abdominal or inguinal testis, normal breast development, absent or sparse pubic hair, normal or high endogenous testosterone production, hypoplastic or absent wolffian structures, and 46,XY karyotype. Sequencing of the AR gene. Prevalence of AR exon 1 mutations. Over a 10-year period (1997 to 2007), we identified 78 AR gene mutations in 105 patients with CAIS; 21 of them were located in exon 1, and 13 of these were new mutations. We report 13 new mutations in the AR gene. All but one were stop codons, and the last was a splicing abnormality. The finding that 27% of the mutations in our cohort were localized in exon 1 versus 15% in previous works justifies the sequencing of this exon in patients with CAIS. Copyright 2010. Published by Elsevier Inc.

  3. Partial lipodystrophy with severe insulin resistance and adult progeria Werner syndrome.

    OpenAIRE

    Donadille, Bruno; D'Anella, Pascal; Auclair, Martine; Uhrhammer, Nancy; Sorel, Marc; Grigorescu, Romulus; Ouzounian, Sophie; Cambonie, Gilles; Boulot, Pierre; Laforêt, Pascal; Carbonne, Bruno; Christin-Maitre, Sophie; Bignon, Yves-Jean; Vigouroux, Corinne

    2013-01-01

    International audience; BACKGROUND: Laminopathies, due to mutations in LMNA, encoding A type-lamins, can lead to premature ageing and/or lipodystrophic syndromes, showing that these diseases could have close physiopathological relationships. We show here that lipodystrophy and extreme insulin resistance can also reveal the adult progeria Werner syndrome linked to mutations in WRN, encoding a RecQ DNA helicase. METHODS: We analysed the clinical and biological features of two women, aged 32 and...

  4. 肺复张联合DuoPAP治疗早产儿呼吸窘迫综合征%A combined DuoPAP in the treatment of premature infants with respiratory distress syndrome complex lung

    Institute of Scientific and Technical Information of China (English)

    张洁

    2014-01-01

    Objective To investigate the clinical effect of lung recruitment and Duo syndrome PAP in treatment of premature res-piratory distress.Methods From June 1, 2013 to June 30, 2014 in our hospital NICU room income of premature infants with respi-ratory distress syndrome in patients with 68 cases, were randomly divided into 2 groups, the experimental group were given DuoPAP respiratory support immediately after admission, respiratory support within 24 hours to lung recruitment maneuver (LRM), interval of 8 h to 1 RM, 3 d. The control group was given tube intubation and mechanical ventilation in the treatment. Results The experimental group of lung recruitment and DuoPAP treatment, the total effective rate was 91.1% higher than that of the control group was 70.5%, there was statistical significance (P<0.05); control group after the treatment of 12h combined arterial partial pressure of oxygen were (149.2±19.7)mmHg and (162.3±18.1)mmHg; tidal volume ventilation after 72 h of ventilator parameters in control group and observation group is(427.2±78.5)mL and(503.6±93.2) mL respectively; compared with control effect of hos-pitalization and treatment group and observation group, including hospitalization days were the control group (32.2±6.8) days and the lung recruitment and DuoPAP treatment group,(25.9±5.1) and the number of deaths were 2 cases and 0 cases of. The above data was statistically significant (P<0.05).Conclusion Lung recruitment and Duo PAP in the treatment of premature infants with respiratory distress syndrome can effectively improve oxygenation function of patients, significantly improve patient compliance of the lung, greatly reduce the use of respirator, significantly improve the neonatal respiratory distress syndrome in the successful res-cue rate, decrease the incidence rate of intubation, weaning failure rate, BPD, gas leakage and ventilator pneumonia rate, shorten the exposure time, reduce ventilator time and hospitalization expenses. Clinicians

  5. Lifestyle influences on prematurity.

    Science.gov (United States)

    Creasy, R K

    1991-01-01

    It is apparent from this review that the lifestyle of an individual gravida can potentially lead to a premature delivery. Some of these adverse behavioral characteristics may be dealt with by education and motivation, and some with actual medical treatment. However, there also appears to be significant need for public policy reorientation if we are to make a significant impact on the problem of preterm delivery.

  6. Functional abilities in aging women with Rett syndrome - the Danish cohort

    DEFF Research Database (Denmark)

    Schönewolf-Greulich, Bitten; Stahlhut, Michelle; Larsen, Jane Lunding

    2017-01-01

    Rett syndrome (RTT) is a neurodevelopmental disorder, which mainly affects females and results in multiple disabilities. Many clinical descriptions of the symptoms and functional abilities have been made medically, though mainly in children with RTT. Previous reports have established that even...... of aging women with RTT can grab on to things - persons with hand function should be motivated to use this ability in the context of eating Communication is a difficult task especially for the aging RTT women - Communicative signs, their meaning and how to react to them should be written down for every...

  7. Neurodevelopment of children under 3 years of age with Smith-Magenis syndrome.

    Science.gov (United States)

    Wolters, Pamela L; Gropman, Andrea L; Martin, Staci C; Smith, Michaele R; Hildenbrand, Hanna L; Brewer, Carmen C; Smith, Ann C M

    2009-10-01

    Systematic data regarding early neurodevelopmental functioning in Smith-Magenis syndrome are limited. Eleven children with Smith-Magenis syndrome less than 3 years of age (mean, 19 months; range, 5-34 months) received prospective multidisciplinary assessments using standardized measures. The total sample scored in the moderately to severely delayed range in cognitive functioning, expressive language, and motor skills and exhibited generalized hypotonia, oral-motor abnormalities, and middle ear dysfunction. Socialization skills were average, and significantly higher than daily living, communication, and motor abilities, which were below average. Mean behavior ratings were in the nonautistic range. According to exploratory analyses, the toddler subgroup scored significantly lower than the infant subgroup in cognition, expressive language, and adaptive behavior, suggesting that the toddlers were more delayed than the infants relative to their respective peers. Infants aged approximately 1 year or younger exhibited cognitive, language, and motor skills that ranged from average to delayed, but with age-appropriate social skills and minimal maladaptive behaviors. At ages 2 to 3 years, the toddlers consistently exhibited cognitive, expressive language, adaptive behavior, and motor delays and mildly to moderately autistic behaviors. Combining age groups in studies may mask developmental and behavioral differences. Increased knowledge of these early neurodevelopmental characteristics should facilitate diagnosis and appropriate intervention.

  8. Age as a Risk Factor for Burnout Syndrome in Nursing Professionals: A Meta-Analytic Study.

    Science.gov (United States)

    Gómez-Urquiza, José L; Vargas, Cristina; De la Fuente, Emilia I; Fernández-Castillo, Rafael; Cañadas-De la Fuente, Guillermo A

    2017-04-01

    Although past research has highlighted the possibility of a direct relationship between the age of nursing professionals and burnout syndrome, results have been far from conclusive. The aim of this study was to conduct a wider analysis of the influence of age on the three dimensions of burnout syndrome (emotional exhaustion, depersonalization, and personal accomplishment) in nurses. We performed a meta-analysis of 51 publications extracted from health sciences and psychology databases that fulfilled the inclusion criteria. There were 47 reports of information on emotional exhaustion in 50 samples, 39 reports on depersonalization for 42 samples, and 31 reports on personal accomplishment in 34 samples. The mean effect sizes indicated that younger age was a significant factor in the emotional exhaustion and depersonalization of nurses, although it was somewhat less influential in the dimension of personal accomplishment. Because of heterogeneity in the effect sizes, moderating variables that might explain the association between age and burnout were also analyzed. Gender, marital status, and study characteristics moderated the relationship between age and burnout and may be crucial for the identification of high-risk groups. More research is needed on other variables for which there were only a small number of studies. Identification of burnout risk factors will facilitate establishment of burnout prevention programs for nurses. © 2016 Wiley Periodicals, Inc. © 2016 Wiley Periodicals, Inc.

  9. Partial impairment of immune functions in peripheral blood leukocytes from aged men with Down's syndrome.

    Science.gov (United States)

    Park, E; Alberti, J; Mehta, P; Dalton, A; Sersen, E; Schuller-Levis, G

    2000-04-01

    Down's syndrome (DS) has been considered a model of accelerated aging and of Alzheimer's disease. We investigated immunologic functions using peripheral blood leukocytes in order to correlate the production of cytokines and development of neuropathological changes of Alzheimer type in aged persons with DS. Cytokine production (IL-1beta, IL-2, IL-6, IL-8, and TNF-alpha), phytohemagglutinin (PHA)-stimulated proliferation of nonadherent monocytes, and superoxide anion production from polymorphonuclear leukocytes were measured. PHA-stimulated proliferation in aged individuals (>30 years old) with DS was significantly lower than that of age- and sex-matched controls (DS vs control, 55,707+/-5810 vs 88,310+/-6994 cpm, P < 0.001). PHA-stimulated IL-2 production was also significantly decreased in aged individuals with DS (DS vs control, 7.1+/-2.1 vs 10.7+/-1.3 ng/ml). Interestingly, the decrease of proliferation and IL-2 production in aged males with DS is significantly greater than in aged women with DS. PHA-stimulated proliferation and IL-2 production of nonadherent monocytes in females was not significantly reduced. IL-1beta production by LPS-activated adherent monocytes was significantly decreased in older adults with DS compared with non-DS controls. Other immune parameters measured in DS were not significantly different from that of age-matched controls. We conclude that there is partial impairment of T lymphocytes in aged persons with DS that is significantly greater in males than in females.

  10. Hypertension Is a Key Feature of the Metabolic Syndrome in Subjects Aging with HIV

    DEFF Research Database (Denmark)

    Martin-Iguacel, Raquel; Negredo, Eugènia; Peck, Robert

    2016-01-01

    to predispose to these metabolic complications and to the excess risk of CVD observed in the HIV population. The metabolic syndrome (MS) represents a clustering of RF for CVD that includes abdominal obesity, hypertension, dyslipidemia and insulin resistance. Hypertension is a prevalent feature of the MS in HIV......With widespread and effective antiretroviral therapy, the life expectancy in the HIV population has dramatically improved over the last two decades. Consequently, as patients are aging with HIV, other age-related comorbidities, such as metabolic disturbances and cardiovascular disease (CVD), have......, in particular in the aging population, and constitutes an important RF for CVD. Physicians should screen their patients for metabolic and cardiovascular risk at the regular visits to reduce MS and the associated CVD risk among people aging with HIV, since many of RF are under-diagnosed and under...

  11. Neu-Laxova syndrome in an appropriate for gestational age newborn

    Directory of Open Access Journals (Sweden)

    Dilli Dilek

    2008-01-01

    Full Text Available Neu-Laxova syndrome is a rare lethal congenital disorder involving multiple systems. Intrauterine growth retardation, ichthyosis, microcephaly, abnormal facial findings, and limb contractures are its key features. We present a case of Neu-Laxova syndrome in a male appropriate for gestational age (AGA newborn with characteristic features including ichthyosis, microcephaly, severe ectropion, rudimentary ears, eclabion, limb contractures, and hypoplastic genitalia. The patient was born at 38 weeks of gestation to consanguinous Turkish parents. The mother was a 20-year-old primi gravida with lack of prenatal follow-up. Therefore, the case was diagnosed postnatally, and he died 5 days later. Because of the autosomal recessive inheritance of Neu-Laxova syndrome, in countries with high rates of consanguineous marriage, such as Turkey, physicians have to know this syndrome, and serial prenatal ultrasound examinations with genetic counseling should be performed on pregnant women at high risk. To the best of our knowledge, this is the first case described in an AGA newborn.

  12. Growth in Small-for-Gestational-Age Preterm-Born Children from 0 to 4 Years : The Role of both Prematurity and SGA Status

    NARCIS (Netherlands)

    Bocca-Tjeertes, Inger F. A.; Reijneveld, Sijmen A.; Kerstjens, Jorien M.; de Winter, Andrea F.; Bos, Arend F.

    2013-01-01

    Background: Fullterm small-for-gestational-age children (SGAs) are known for their ability to catch up on growth. Nevertheless, increased risk of growth restriction remains. Evidence on preterm SGA children's growth is lacking. Objective: To determine absolute gains in height and weight, relative gr

  13. The I4895T mutation in the type 1 ryanodine receptor induces fiber-type specific alterations in skeletal muscle that mimic premature aging.

    Science.gov (United States)

    Boncompagni, Simona; Loy, Ryan E; Dirksen, Robert T; Franzini-Armstrong, Clara

    2010-12-01

    The I4898T (IT) mutation in type 1 ryanodine receptor (RyR1), the Ca(2+) release channel of the sarcoplasmic reticulum (SR) is linked to a form of central core disease (CCD) in humans and results in a nonleaky channel and excitation-contraction uncoupling. We characterized age-dependent and fiber-type-dependent alterations in muscle ultrastructure, as well as the magnitude and spatiotemporal properties of evoked Ca(2+) release in heterozygous Ryr1(I4895T/WT) (IT/+) knock-in mice on a mixed genetic background. The results indicate a classical but mild CCD phenotype that includes muscle weakness and the presence of mitochondrial-deficient areas in type I fibers. Electrically evoked Ca(2+) release is significantly reduced in single flexor digitorum brevis (FDB) fibers from young and old IT/+ mice. Structural changes are strongly fiber-type specific, affecting type I and IIB/IIX fibers in very distinct ways, and sparing type IIA fibers. Ultrastructural alterations in our IT/+ mice are also present in wild type, but at a lower frequency and older ages, suggesting that the disease mutation on the mixed background promotes an acceleration of normal age-dependent changes. The observed functional and structural alterations and their similarity to age-associated changes are entirely consistent with the known properties of the mutated channel, which result in reduced calcium release as is also observed in normal aging muscle. In strong contrast to these observations, a subset of patients with the analogous human heterozygous mutation and IT/+ mice on an inbred 129S2/SvPasCrl background exhibit a more severe disease phenotype, which is not directly consistent with the mutated channel properties.

  14. Placement, Relocation and End of Life Issues in Aging Adults with and without Down's Syndrome: A Retrospective Study

    Science.gov (United States)

    Patti, P.; Amble, K.; Flory, M.

    2010-01-01

    Background: Aging adults with Down's syndrome (DS) experience more relocations and other life events than adults with intellectual disabilities aged 50 and older without DS. Age-related functional decline and the higher incidence of dementia were implicated as the contributing factors that led to relocation and nursing home placement. Method: A…

  15. RESEARCH ON REDUCING PREMATURITY RUPTURE OF MEMBRANE

    Directory of Open Access Journals (Sweden)

    Maria URSACHI (BOLOTA

    2016-12-01

    Full Text Available The membranes surrounding the amniotic cavity are composed from amnion and chorion, tightly adherent layers which are composed of several cell types, including epithelial cells, trophoblasts cells and mesenchyme cells, embedded in a collagenous matrix. They retain amniotic fluid, secret substances into the amniotic fluid, as well as to the uterus and protect the fetus against upward infections from urogenital tract. Normally, the membranes it breaks during labor. Premature rupture of the amniotic sac (PRAS is defined as rupture of membranes before the onset of labor. Premature rupture of the fetal membrane, which occurs before 37 weeks of gestation, usually, refers to preterm premature rupture of membranes. Despite advances in the care period, premature rupture of membranes and premature rupture of membranes preterm continue to be regarded as serious obstetric complications. On the term 8% - 10% of pregnant women have premature rupture of membranes; these women are at increased risk of intrauterine infections, where the interval between membrane rupture and expulsion is rolled-over. Premature rupture of membranes preterm occurs in approximately 1% of all pregnancies and is associated with 30% -40% of preterm births. Thus, it is important to identify the cause of pre-term birth (after less than 37 completed weeks of "gestation" and its complications, including respiratory distress syndrome, neonatal infection and intraventricular hemorrhage. Objectives: the development of the protocol of the clinical trial on patients with impending preterm birth, study clinical and statistical on the socio-demographic characteristics of patients with imminent preterm birth; clinical condition of patients and selection of cases that could benefit from the application of interventional therapy; preclinical investigation (biological and imaging of patients with imminent preterm birth; the modality therapy; clinical investigation of the effectiveness of short

  16. Aging and Intellectual Disability: Insights from Mouse Models of Down Syndrome

    Science.gov (United States)

    Ruparelia, Aarti; Pearn, Matthew L.; Mobley, William C.

    2013-01-01

    Down syndrome (DS) is one of many causes of intellectual disability (ID), others including but not limited to, fetal alcohol syndrome, Fragile X syndrome, Rett syndrome, Williams syndrome, hypoxia, and infection. Down syndrome is characterized by a number of neurobiological problems resulting in learning and memory deficits and early onset…

  17. Aging and Intellectual Disability: Insights from Mouse Models of Down Syndrome

    Science.gov (United States)

    Ruparelia, Aarti; Pearn, Matthew L.; Mobley, William C.

    2013-01-01

    Down syndrome (DS) is one of many causes of intellectual disability (ID), others including but not limited to, fetal alcohol syndrome, Fragile X syndrome, Rett syndrome, Williams syndrome, hypoxia, and infection. Down syndrome is characterized by a number of neurobiological problems resulting in learning and memory deficits and early onset…

  18. Age associated differences in prevalence of individual rotterdam criteria and metabolic risk factors during reproductive age in 446 caucasian women with polycystic ovary syndrome

    DEFF Research Database (Denmark)

    Glintborg, D; Mumm, H; Ravn, P

    2012-01-01

    Clinical manifestations and metabolic risk factors may differ according to age in patients with polycystic ovary syndrome (PCOS). Therefore, a retrospective trans-sectional study in academic tertiary-care medical center was designed. A cohort of 446 premenopausal, Caucasian women (age range 15...... and biochemical hyperandrogenism, whereas older patients are more obese with more severe hirsutism and more cardiovascular and metabolic risk factors....

  19. Developmental trajectories of structural and pragmatic language skills in school-aged children with Williams syndrome.

    Science.gov (United States)

    Van Den Heuvel, E; Manders, E; Swillen, A; Zink, I

    2016-10-01

    This study aimed to compare developmental courses of structural and pragmatic language skills in school-aged children with Williams syndrome (WS) and children with idiopathic intellectual disability (IID). Comparison of these language trajectories could highlight syndrome-specific developmental features. Twelve monolingual Dutch-speaking children with WS aged 5.10 to 13.3 years were assessed by means of standardised structural language tests measuring receptive and expressive vocabulary and sentence comprehension and production. Pragmatic language was evaluated by means of an expressive referential communication task and a retelling test. All of these language abilities were re-evaluated with the same measures after a period of 18 to 24 months. Performance was compared to 12 children with IID pairwise matched for chronological age (CA) and non-verbal fluid reasoning (Gf) at Time 1. Non-verbal mental age (NVMA) was taken into account when delineating developmental trajectories. Children with WS outperformed children with IID on expressive vocabulary development. In contrast, sentence comprehension was significantly poorer than in children with IID at the second time point. Increased variability and rather poor performance on pragmatic language tasks were demonstrated in the WS group. Irrelevant and off-topic extraneous information transfer continued to be a syndrome-specific characteristic of children with WS. The data provide new insights into diverging developmental trajectories across language domains. Expressive structural language skills tend to progress more rapidly than receptive language skills in children with WS causing more distinctive language profiles over time. Some children with WS seem to benefit from the growth in expressive structural language abilities to enhance their expressive pragmatic language skills, while in some others these abilities remain challenging. This study highlights the need for continued follow-up of language challenges in

  20. Differentiating Aging Among Adults With Down Syndrome and Comorbid Dementia or Psychopathology.

    Science.gov (United States)

    Esbensen, Anna J; Johnson, Emily Boshkoff; Amaral, Joseph L; Tan, Christine M; Macks, Ryan

    2016-01-01

    Differences were examined between three groups of adults with Down syndrome in their behavioral presentation, social life/activities, health, and support needs. We compared those with comorbid dementia, with comorbid psychopathology, and with no comorbid conditions. Adults with comorbid dementia were more likely to be older, have lower functional abilities, have worse health and more health conditions, and need more support in self-care. Adults with comorbid psychopathology were more likely to exhibit more behavior problems and to be living at home with their families. Adults with no comorbidities were most likely to be involved in community employment. Differences in behavioral presentation can help facilitate clinical diagnoses in aging in Down syndrome, and implications for differential diagnosis and service supports are discussed.

  1. The utility of metformin therapy in reproductive-aged women with polycystic ovary syndrome (PCOS).

    Science.gov (United States)

    Nathan, Nisha; Sullivan, Shannon D

    2014-01-01

    Metformin, an insulin-sensitizing drug commonly used to treat Type 2 Diabetes Mellitus (T2DM), has been increasingly used off-label for the treatment of polycystic ovary syndrome (PCOS), which affects at least 5-10% of reproductive- age women. With very little risk associated with its use, metformin provides many important benefits to women with PCOS, including regulating menstrual cycles, improving clinical signs of hyperandrogenism, ameliorating metabolic syndrome, inducing ovulation, improving pregnancy rates and pregnancy outcomes, preventing gestational diabetes, and preventing progression to T2DM. Here, we review the indications for metformin in women with PCOS, with a focus on the use of metformin during pre-conception and pregnancy.

  2. The I4895T Mutation in the Type 1 Ryanodine Receptor Induces Fiber-Type Specific Alterations in Skeletal Muscle that Mimic Premature Aging

    OpenAIRE

    2010-01-01

    The I4898T (IT) mutation in type 1 ryanodine receptor (RyR1), the Ca2+ release channel of the sarcoplasmic reticulum (SR) is linked to a form of central core disease (CCD) in humans and results in a non leaky channel and excitation-contraction uncoupling. We characterized age- and fiber type-dependent alterations in muscle ultrastructure, as well as the magnitude and spatiotemporal properties of evoked Ca2+ release in heterozygous Ryr1I4895T/WT (IT/+) knock-in mice on a mixed genetic backgrou...

  3. DYNAMICS OF DISABILITY ADJUSTED LIFE YEARS (DALY AS A RESULT OF PREMATURE MORTALITY OF CHILDREN AT THE AGE OF 0–17 YEARS IN TOMSK REGION IN 2008–2012

    Directory of Open Access Journals (Sweden)

    О. S. Kobyakova

    2014-01-01

    Full Text Available The DALY indicator (Disability Adjusted Life Years is widely used for the assessment of a contribution of various diseases to losses of the population health and of the analysis of activity efficiency of health care systems. Background: Research objective was to evaluate dynamics of the DALY indicator as a result of premature mortality of the child population of Tomsk region during 2008-2012. Patients and methods: DALY calculation as a result of premature mortality of the child population of the region during the period from 2008 to 2012 is made. While calculating the data of Territorial body of Federal service of state statistics for the Tomsk Region (Rosstat which included a sex of the dead, day, month and year of death, place of residence, cause of death, day, month and year of birth of the dead was used. The number and gender and age structure of the population of the Tomsk Region according to Rosstat data were also considered. Results: The DALY decrease by 16,5% in child population at the age of 0–17 years is observed in the Tomsk region during the period from 2008 to 2012. Following the results of 2012, DALY in studied population made 833.1 (82.3 ± 5.4 years for 10 thousand of corresponding population that is 1,1 times lower than totally in the Russian Federation, and 3.4 times lower than the universal indicator of 2010. Conclusion: The received result reflects the activity of health care system of the region, directed on integration of synthesis of theoretical and practical knowledge. Decrease in DALY among the child population in the territory of the region is promoted by a number of factors: continuous quality improvement of the medical care rendered to children, target programs on motherhood and childhood health protection realized in the territory of the region, and also functioning of the federal scientific and educational institutions promoting introduction of modern techniques of medical care delivery in practical health care

  4. Aging-like skin changes induced by ultraviolet irradiation in an animal model of metabolic syndrome.

    Science.gov (United States)

    Akase, Tomoko; Nagase, Takashi; Huang, Lijuan; Ibuki, Ai; Minematsu, Takeo; Nakagami, Gojiro; Ohta, Yasunori; Shimada, Tsutomu; Aburada, Masaki; Sugama, Junko; Sanada, Hiromi

    2012-04-01

    Both physiological skin aging and pathologic photo-aging caused by ultraviolet (UV) irradiation are mediated by latent inflammation and oxidative stress. Although numerous animal skin-aging models have used UV irradiation, most require massive doses or long-term irradiation. To establish a more refined skin-aging model, we focused on an animal model of metabolic syndrome (MS) because MS involves damage to various organs via oxidative stress or inflammation, similar to the changes associated with aging. We hypothesized that MS skin might exhibit more aging-like changes after milder, shorter-term UV irradiation than would normal animal skin under similar conditions, thus providing a useful model for skin aging. The authors therefore examined the skin from Tsumura Suzuki obese diabetic (TSOD) mice (MS model) and control Tsumura Suzuki non-obese (TSNO) mice before and after UV irradiation. Skin from TSOD mice had a thinner epidermis and dermis, a thicker fatty layer, reduced density and convolution of the fragmented collagen fibers, and upregulated expression of tumor necrosis factor (TNF)-α, a dual marker for inflammation and aging, compared to the skin from TSNO mice. UV irradiation affected TSOD skin more severely than TSNO skin, resulting in various changes resembling those in aged human skin, including damage to the dermis and subcutaneous fatty tissue, infiltration of inflammatory cells, and further upregulation of TNF-α expression. These results suggest that UV-irradiated TSOD mice may provide a new model of skin aging and imply that skin from humans with MS is more susceptible to UV- or aging-related damage than normal human skin.

  5. Premature adrenarche: novel lessons from early onset androgen excess.

    Science.gov (United States)

    Idkowiak, Jan; Lavery, Gareth G; Dhir, Vivek; Barrett, Timothy G; Stewart, Paul M; Krone, Nils; Arlt, Wiebke

    2011-08-01

    Adrenarche reflects the maturation of the adrenal zona reticularis resulting in increased secretion of the adrenal androgen precursor DHEA and its sulphate ester DHEAS. Premature adrenarche (PA) is defined by increased levels of DHEA and DHEAS before the age of 8 years in girls and 9 years in boys and the concurrent presence of signs of androgen action including adult-type body odour, oily skin and hair and pubic hair growth. PA is distinct from precocious puberty, which manifests with the development of secondary sexual characteristics including testicular growth and breast development. Idiopathic PA (IPA) has long been considered an extreme of normal variation, but emerging evidence links IPA to an increased risk of developing the metabolic syndrome (MS) and thus ultimately cardiovascular morbidity. Areas of controversy include the question whether IPA in girls is associated with a higher rate of progression to the polycystic ovary syndrome (PCOS) and whether low birth weight increases the risk of developing IPA. The recent discoveries of two novel monogenic causes of early onset androgen excess, apparent cortisone reductase deficiency and apparent DHEA sulphotransferase deficiency, support the notion that PA may represent a forerunner condition for PCOS. Future research including carefully designed longitudinal studies is required to address the apparent link between early onset androgen excess and the development of insulin resistance and the MS.

  6. Premature osteoarthritis of the knee associated with cartilage hypertrophy and phalangeal dysgenesis

    Energy Technology Data Exchange (ETDEWEB)

    Vital, E.M.J.; Hutton, C.W. [Derriford Hospital, Medical Directorate, Plymouth (United Kingdom); Hughes, P.M. [Derriford Hospital, Radiology Department, Plymouth (United Kingdom)

    2005-08-01

    A woman presented with premature knee osteoarthritis associated with marked femoral cartilage hypertrophy. She also exhibited phalangeal dysgenesis, suggesting this may be an unrecognised syndrome that may predispose to knee osteoarthritis. (orig.)

  7. Prevalence of polycystic ovary syndrome in Chinese obese women of reproductive age with or without metabolic syndrome.

    Science.gov (United States)

    Liang, Peiwen; Xi, Liuqing; Shi, Juan; Li, Wanyu; Zhao, Shaoqian; Deng, Yuying; Wang, Rui; Sun, Yingkai; Gu, Bin; Yuan, Lihui; Zhang, Yifei; Gu, Weiqiong; Wang, Weiqing; Hong, Jie

    2017-04-01

    To compare the prevalence of polycystic ovary syndrome (PCOS) and related clinical characteristics between metabolically unhealthy obese (MUO) and metabolically healthy obese (MHO) women of reproductive age. Cross-sectional clinical study. Tertiary hospital. We studied 299 MUO and 122 MHO Chinese women matched on body mass index. Metabolically healthy obese was defined as obesity with no more than one metabolic abnormality. Diagnosis of PCOS was based on the revised Rotterdam criteria. Each subject underwent physical examination, laboratory evaluation, and gynecologic ultrasound for a diagnosis of PCOS or metabolic syndrome (MetS). Prevalence of PCOS was calculated in both groups. Insulin resistance was determined by homeostasis model assessment of insulin resistance or by the insulin sensitivity index derived from Bergman's minimal model. Fat distribution was measured with computerized tomography scan. Prevalence of PCOS and its components did not differ between MUO and BMI-matched MHO groups (67.89% and 66.96%, respectively). In logistic regression analysis, MetS did not predict the presence of PCOS after adjusting for confounding factors. The MHO group had lower visceral adipose tissue, relatively higher insulin sensitivity, and better β-cell function, compared with those in the MUO group; but there were no significant differences in sex hormones (except for free T and sex hormone-binding globulin) and ultrasound manifestations between MHO and MUO women. For the first time, our findings suggest that MetS does not add additional risk for PCOS. In addition, we found that both MUO and MHO are associated with insulin resistance to some extent. Copyright © 2017 American Society for Reproductive Medicine. Published by Elsevier Inc. All rights reserved.

  8. Neuroinflammation in the Aging Down Syndrome Brain; Lessons from Alzheimer's Disease

    OpenAIRE

    Wilcock, Donna M.

    2012-01-01

    Down syndrome (DS) is the most genetic cause of mental retardation and is caused by the triplication of chromosome 21. In addition to the disabilities caused early in life, DS is also noted as causing Alzheimer's-disease-like pathological changes in the brain, leading to 50–70% of DS patients showing dementia by 60–70 years of age. Inflammation is a complex process that has a key role to play in the pathogenesis of Alzheimer's disease. There is relatively little understood about inflammation ...

  9. Prevalence of premenstrual syndrome among women of child-bearing age with regular menstrual cycle

    Directory of Open Access Journals (Sweden)

    Nodira Khodjaeva

    2013-11-01

    Full Text Available The study on prevalence of premenstrual syndrome (PMS with various severities was conducted in a cohort of fertile female residents of Tashkent aged from 18 to 30. Clinical and medical history data on psycho-emotional and physical PMS symptoms was put into a specially developed card-questionnaire. Severity of symptoms was determined by total score to fill in a PMS symptom scale on the basis of the examinees’ self-observation. The associations of PMS with social-demographic factors, such as, level of education, employment status, sexual satisfaction and stress index were analyzed.

  10. The relationship between eosinophilia and bronchopulmonary dysplasia in premature infants at less than 34 weeks' gestation

    Science.gov (United States)

    Yang, Joo Yun; Cha, Jihei; Shim, So-Yeon; Cho, Su Jin

    2014-01-01

    Purpose Eosinophilia is common in premature infants, and its incidence increases with a shorter gestation period. We investigated the clinical significance of eosinophilia in premature infants born at Eosinophilia was defined as an eosinophil percentage of >3% of the total leukocytes. Perinatal parameters and clinical parameters were also analyzed. Results Of the 261 infants born at eosinophilia at birth. The eosinophil percentage peaked in the fourth postnatal week at 7.5%. The incidence of severe eosinophilia increased after birth up to the fourth postnatal week when 8.8% of all patients had severe eosinophilia. Severity of eosinophilia was positively correlated with a lower gestational age, birth weight, and Apgar score. Respiratory distress syndrome, bronchopulmonary dysplasia, nephrocalcinosis, intraventricular hemorrhage, and sepsis were associated with a higher eosinophil percentage. The eosinophil percentage was significantly higher in infants with bronchopulmonary dysplasia from the first postnatal week and the percentage was the highest in the fourth postnatal week, with the maximal difference being 4.1% (PEosinophilia is common in premature infants and reaches peak incidence and severity in the fourth postnatal week. The eosinophil percentage was significantly higher in bronchopulmonary dysplasia patients from the first postnatal week. Severe eosinophilia was significantly associated with the incidence of bronchopulmonary dysplasia even after adjusting for other variables. PMID:24868214

  11. Advances in the treatment of premature child syndrome CPAP respiratory distress%CPAP 对早产儿呼吸窘迫综合征的治疗进展

    Institute of Scientific and Technical Information of China (English)

    蒋道菊; 池永学

    2014-01-01

    in the era of gentle ventilation ,continuous positive airway pressure (cPaP) has been proven over the years to be an effective mode of noninvasive ventilatory support and as such has gained widespread use around the world in the management of a variety of neonatal respiratory diseases, particulary respiratory distress syndrome (rds).it is relatively cheap and easy to apply and certainly feasible for routine use in underdeveloped world.there is good to fair quality supportive evidence from several studies that the use of primary cPaP can reduce the need for intubation and mechanical ventilation in premature infants and could avoid ventilator induced lung injury and decrease bronchopulmonary dysplasia(BPd).cPaP has also been shown to be effective in the treatment of respiratory distress syndrome (rds) even in very low birth weight infants. in this review, we will attempt to describe different ways in which cPaP can be applied,other advantages of clinical indications for cPaP will also be explored. although it is unclear that primary use of cPaP can reduce overall neonatal mortality and morbidity ,it is becoming increasingly clear that early cPaP use is less invasive baby friendly and decreases the need and frequency of the use of surfactants.%在提倡减少肺损伤的时代,持续气道正压通气(continuous positive airway pressure ,cPaP)作为无创通气技术近年来已经被证实有效,因此,其对新生儿呼吸系统疾病,尤其是新生儿呼吸窘迫综合征(respiratory distress syndrome ,rds)的治疗在全世界范围得到推广。此外,cPaP 便宜、操作简便、易于在发展中国家实施。有研究证实 cPaP可以减少早产儿的气管插管及机械通气,故可避免呼吸机相关性肺损伤及降低支气管肺发育不良(bronchopulmonary dysplasia,BPd),且证实其甚至对极低体重出生儿 rds 有效。本文就 cPaP 对早产儿 rds 的不同应用方式做一简单综述, cPaP 的其它优点

  12. 地塞米松预防早产儿呼吸窘迫症的临床研究%Clinical efficacy of dexamethasone on preventing neonatal respiratory distress syndrome in premature infants

    Institute of Scientific and Technical Information of China (English)

    宋英; 柯英

    2015-01-01

    目的:评价产前用地塞米松预防早产儿发生呼吸窘迫综合征( RDS)的临床疗效。方法120例早产RDS患儿分为未给予地塞米松组60例(对照组)和地塞米松组60例(试验组),2组均接受基础治疗,试验组即产前肌内注射地塞米松6 mg,q12 h,共4次,比较2组临床总体疗效,早产儿RDS发生情况,持续呼吸道正压通气(NCPAP)使用率及使用时间和死亡情况。结果试验组和对照组RDS发生率分别为1.67%,6.67%;新生儿缺氧缺血性脑病/新生儿脑室出血( HIE/IVH)发生率分别为18.33%与43.33%,死亡率分别为8.33%与20.00%,试验组均显著低于对照组(P<0.05)。2组早产儿1,5 min Apgar评分差异无统计学意义( P>0.05)。结论产前用地塞米松并结合综合护理措施是预防早产儿发生RDS的有效方法,且能降低NCPAP的临床应用及早产儿病死率。%Objective To evaluate the preventive effect of dexametha-sone on premature infants with respiratory distress syndrome ( RDS ) . Methods All of the 120 cases were divided into trial group and control group, 60 cases in each group.Infants in control group were treated with conventional method and those in trial group were given dexamethasone injection 6 mg before delivery, q12 h, for 4 times.The data of clinical efficacy , incidence rate of RDS , application of nasal continuous positive airway pressure and death rate were compared between groups . Results The incidence rate of RDS and death rate were 6.67% and 20.00%in the control group , and 1.67%and 8.33%in the trial group ( P<0.05 ) .The incidence rate of hypoxic -ischemic encephalopathy/intraventricular hemorrhage ( HIE/IVH ) in trial group and control group was 18.33%and 43.33%, respectively.There was no statistical differ-ence in Apgar score of infants at 1 and 5 minutes.Conclusion The treatment of dexamethasone injection before delivery combined compre-hended healthcare

  13. Parent behaviors moderate the relationship between neonatal pain and internalizing behaviors at 18 months corrected age in children born very prematurely.

    Science.gov (United States)

    Vinall, Jillian; Miller, Steven P; Synnes, Anne R; Grunau, Ruth E

    2013-09-01

    Children born very preterm (≤ 32 weeks gestation) exhibit greater internalizing (anxious/depressed) behaviors compared to term-born peers as early as 2 years corrected age (CA); however, the role of early stress in the etiology of internalizing problems in preterm children remains unknown. Therefore, we examined the relationship between neonatal pain and internalizing behavior at 18 months CA in children born very preterm and examined whether parent behavior and stress moderated this relationship. Participants were 145 children (96 very preterm, 49 full term) assessed at 18 months CA. Neonatal data were obtained from medical and nursing chart review. Neonatal pain was defined as the number of skin-breaking procedures. Cognitive ability was measured with the Bayley Scales of Infant Development II. Parents completed the Parenting Stress Index III, Child Behavior Checklist 1.5-5, and participated in a videotaped play session with their child, which was coded using the Emotional Availability Scale IV. Very preterm children displayed greater Internalizing behaviors compared to full-term control children (P=.02). Parent Sensitivity and Nonhostility moderated the relationship between neonatal pain and Internalizing behavior (all Pneonatal medical confounders, gender, and child cognitive ability (all P>.05). Parent Emotional Availability and stress were not associated with Internalizing behaviors in full-term control children. Positive parent interaction and lower stress appears to ameliorate negative effects of neonatal pain on stress-sensitive behaviors in this vulnerable population.

  14. Inverse Correlation between Adiponectin and the Risk of Metabolic Syndrome in Middle-aged Japanese Male Workers

    Directory of Open Access Journals (Sweden)

    Miyazaki,Motonobu

    2009-12-01

    Full Text Available Despite a close association between adiponectin and both hypertension and type 2 diabetes, the relationship between adiponectin and metabolic syndrome has not yet been well-investigated. To examine and evaluate the association between serum adiponectin levels and metabolic syndrome based on Japanese diagnostic criteria, we analyzed adiponectin and anthropometric parameters in 869 male employees aged 40-59 who belonged to a health insurance society in Fukuoka Prefecture and who underwent annual health check-ups from August 2006 to July 2007. Two hundred and thirty-two of the 869 subjects (26.7% were diagnosed with metabolic syndrome. The serum adiponectin levels were significantly higher in the non-metabolic syndrome group. In a multiple logistic regression analysis, the subjects in the top quartile of serum adiponectin (adjusted odds ratio:0.36;95% confidence interval:0.21-0.63 and the second (adjusted odds ratio:0.51;95% confidence interval:0.31-0.84 quartile had a significantly decreased risk for metabolic syndrome in comparison to the bottom quartile. The dose-response relationship between serum adiponectin levels and metabolic syndrome was significant (p for trend 0.0001 after adjusting for age, body mass index, smoking status, and drinking status. The current findings suggest that hypoadiponectinemia is inversely correlated with the risk of metabolic syndrome in middle-aged Japanese male workers.

  15. Age and body mass related changes of cardiovascular risk factors in women with polycystic ovary syndrome

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    Macut Đuro P.

    2002-01-01

    Full Text Available Polycystic ovary syndrome (PCOS is considered a metabolic disorder closely related to obesity, insulin resistance (IR, hyperinsulinemia and unfavorable lipid profile, all increasing the risk for the occurrence of cardiovascular diseases. The aim of this study was to assess age and body mass index (BMI related changes of cardiovascular risk factors in 90 women with PCOS. The cut-off age point was 30 years and for BMI 27.8 kg/m2. In all patients systolic and diastolic blood pressure (BP, metabolic parameters comprising values of glucose and insulin during oral glucose tolerance test (OGTT, and basal lipid values were determined. Significant increase in blood pressure (BP indices, basal insulin values and insulin resistance (IR assessed by HOMA model were observed with aging and the increase of BMI, while the parameters of glucose metabolism, total cholesterol and triglycerides were significantly elevated only with aging. However, the correlation between the indices of arterial blood pressure, and lipid and glucose metabolism parameters occurred only in patients over 30 years of age, pointing to the causative relation and the consequent deterioration of IR and lipid profile with aging, influencing cardiovascular function in women with PCOS.

  16. The genetic basis of premature ovarian failure.

    Science.gov (United States)

    Woad, Kathryn J; Watkins, Wendy J; Prendergast, Deborah; Shelling, Andrew N

    2006-06-01

    Premature ovarian failure (POF) is a common condition, affecting approximately 1:100 women. It is characterised by amenorrhea, hypoestrogenism, and elevated gonadotrophin levels in women under the age of 40. It is often an unexpected and distressing diagnosis, which coincides with infertility and menopausal symptoms. There is a well recognised genetic basis to the development of POF. Our laboratory has identified several candidate genes associated with POF.

  17. Progeria (Hutchison - Gilford syndrome in siblings: In an autosomal recessive pattern of inheritance

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    Raghu Tanjore

    2001-09-01

    Full Text Available Progeria is an autosomal dominant, premature aging syndrome. Six and three year old female siblings had sclcrodermatous changes over the extremities, alopecia, beaked nose, prominent veins and bird-like facies. Radiological features were consistent with features of progeria. The present case highlights rarity of progeria in siblings with a possible autosomal recessive pattern.

  18. Physical and functional interactions between Werner syndrome helicase and mismatch-repair initiation factors

    DEFF Research Database (Denmark)

    Saydam, Nurten; Kanagaraj, Radhakrishnan; Dietschy, Tobias;

    2007-01-01

    Werner syndrome (WS) is a severe recessive disorder characterized by premature aging, cancer predisposition and genomic instability. The gene mutated in WS encodes a bi-functional enzyme called WRN that acts as a RecQ-type DNA helicase and a 3'-5' exonuclease, but its exact role in DNA metabolism...

  19. Progeria (Hutchison-Gilford syndrome) in siblings: in an autosomal recessive pattern of inheritance.

    Science.gov (United States)

    Raghu, T Y; Venkatesulu, G A; Kantharaj, G R; Suresh, T; Veeresh, V; Hanumanthappa, Y

    2001-01-01

    Progeria is an autosomal dominant, premature aging syndrome. Six and three year old female siblings had sclerodermatous changes over the extremities, alopecia, beaked nose, prominent veins and bird-like facies. Radiological features were consistent with features of progeria. The present case highlights rarity of progeria in siblings with a possible autosomal recessive pattern.

  20. p38 (MAPK) stress signalling in replicative senescence in fibroblasts from progeroid and genomic instability syndromes.

    Science.gov (United States)

    Tivey, Hannah S E; Brook, Amy J C; Rokicki, Michal J; Kipling, David; Davis, Terence

    2013-02-01

    Werner Syndrome (WS) is a human segmental progeria resulting from mutations in a DNA helicase. WS fibroblasts have a shortened replicative capacity, an aged appearance, and activated p38 MAPK, features that can be modulated by inhibition of the p38 pathway. Loss of the WRNp RecQ helicase has been shown to result in replicative stress, suggesting that a link between faulty DNA repair and stress-induced premature cellular senescence may lead to premature ageing in WS. Other progeroid syndromes that share overlapping pathophysiological features with WS also show defects in DNA processing, raising the possibility that faulty DNA repair, leading to replicative stress and premature cellular senescence, might be a more widespread feature of premature ageing syndromes. We therefore analysed replicative capacity, cellular morphology and p38 activation, and the effects of p38 inhibition, in fibroblasts from a range of progeroid syndromes. In general, populations of young fibroblasts from non-WS progeroid syndromes do not have a high level of cells with an enlarged morphology and F-actin stress fibres, unlike young WS cells, although this varies between strains. p38 activation and phosphorylated HSP27 levels generally correlate well with cellular morphology, and treatment with the p38 inhibitor SB203580 effects cellular morphology only in strains with enlarged cells and phosphorylated HSP27. For some syndromes fibroblast replicative capacity was within the normal range, whereas for others it was significantly shorter (e.g. HGPS and DKC). However, although in most cases SB203580 extended replicative capacity, with the exception of WS and DKC the magnitude of the effect was not significantly different from normal dermal fibroblasts. This suggests that stress-induced premature cellular senescence via p38 activation is restricted to a small subset of progeroid syndromes.

  1. 小胎龄早产儿支气管肺发育不良发生率和危险因素分析%The incidence and risk factors of bronchopulmonary dysplasia in small gestational age premature infants

    Institute of Scientific and Technical Information of China (English)

    郑国方; 武荣; 刘石; 郝小清

    2012-01-01

    Objective To analyse bronchopulmonary dysplasia (BPD) incidence and high risk factor in the small gestational age premature infants. Methods Retrospective analyse the materials of inpatient infants whose gestational age (GA) were =?2 weeks and survived over 28 days in our neonatal intensive care unite ( NICU). The 28 cases as BPD group met the new diagnostic criteria of BPD. The 56 cases as the control group were randomly selected from all the premature infant with no BPD. Results Total of 197 cases of premature infant were included in this study. The incidence of BPD is about 14.2%. There were statistical significance in each GA period group (x2 =32.269,/* =0.000). The incidence increased when the GA decreased; There were statistical significance in each birth weight group (x2 =30. 244, P =0. 000), the incidence increased when birth weight decreased. From the comparison of the 23 risk factors for BPD, we find thai 12 factors have statistical significance (P < 0. 05), those are GA, body weight, oxygen time, maximum oxygen treatment concentration, hospital days, tracheal intubation mechanical ventilation, replacement therapy with pulmonary surfactant, anemia, application of Meropenem, the ratio of tenth day body weight to birth weight, the first blood gas analysis scores after birth and oxygen index < 300. On the basis of Logistic regression analysis of GA, birth weight, the highest inhaled oxygen volume concentration, tracheal intubation mechanical ventilation, anemia, the ratio of tenth day body weight to birth weight, we find that body weight, the highest inhaled oxygen volume concentration, the ratio of tenth body weight to birth weight are high risk factors for BPD. By compared the 18 factors between mild BPD and moderate or severe BPD, we find that asphyxia, application of diuretic, oxygen time and first blood gas analysis scores after birth have statistical significance ( P < 0.05 ) . Conclusions The birth weight, the highest inhaled oxygen volume

  2. Working memory in early-school-age children with Asperger's syndrome.

    Science.gov (United States)

    Cui, Jifang; Gao, Dingguo; Chen, Yinghe; Zou, Xiaobing; Wang, Ya

    2010-08-01

    Using a battery of working memory span tasks and n-back tasks, this study aimed to explore working memory functions in early-school-age children with Asperger's syndrome (AS). Twelve children with AS and 29 healthy children matched on age and IQ were recruited. Results showed: (a) children with AS performed better in digit and word recall tasks, but worse in block recall task and variant-visual-patterns test; (b) children with AS took longer time in most conditions of n-back tasks, and showed larger effects of task load. These findings indicated imbalance of working memory development in AS children: they had advantage in the phonological loop storing, but disadvantage in the visuospatial sketchpad storing, and partial deficit in central executive.

  3. Patients age and results of treatment in discogenic cauda equina syndrome.

    Science.gov (United States)

    Sulla, I

    1994-03-01

    Cauda equina syndrome is a feared complication of lumbar disc disease. Despite of early surgery it frequently leaves persistent effects. Localisation, type, and duration of spinal nerve roots compression are quoted as the most important factors influencing the results of treatment. Statistical evaluation of data acquired by examinations of 58 persons operated on for this disease et the Department of Neurosurgery in Kosice within the period from January 1st, 1982 to December 31st, 1991 has shown that the further important facts are ageing of tissues and impairment of microcirculation. In patients over the age of 45 the recovery of motor and sexual functions, as well as the voluntary control of rectal sphincters, and the working ability were significantly worse. It is suggested thereby that in elderly persons with a proven intervertebral disc disease an early surgical intervention is indicated. (Tab. 7, Ref. 23.)

  4. [Neuropsychological syndromes of non-psychotic mental disorders of youthful age].

    Science.gov (United States)

    Pluzhnikov, I V; Omelchenko, M A; Krylova, E S; Kaleda, V G

    2013-01-01

    Seventy male patients with non-psychotic mental disorders of youthful age (mean age 19.2±3.7), were studied using A.R. Luria neuropsychological syndrome analysis. Patients were stratified into 3 groups by diagnosis: cyclothymia (20 patients), pubertal decompensation of schizoid personality disorder (30 patients) and schizotypal personality disorder (20 patients). It has been shown that the neuropsychological changes indicate the dysfunction of the amygdale/temporal region in patients of the first group and frontal/thalamic/parietal connections in the patients of two other groups. There were interhemispheric differences between patients with personality disorder and schizotypal personality disorder: left hemisphere dysfunction was characteristic of schizotypal disorder and right hemisphere deficit (neurocognitive deficit) was found in patients with personality disorder.

  5. Premature ejaculation: A review

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    Sukumar Reddy Gajjala

    2014-01-01

    Full Text Available Premature ejaculation (PE is a common male sexual disorder. It is defined by the Diagnostic and statistical manual of mental disorders as "ejaculation occurring, without control, on or shortly after penetration and before the person wishes it, causing marked distress or interpersonal difficulty. [1] Although the timing of intravaginal ejaculatory latency time (IELT (i.e., time from penetration to ejaculation is not included in this definition, an IELT of <2 min, or ejaculation occurring before penetration, has been considered consistent with PE. [2] Management involves both the patient and his partner. Therapeutic options should suit both partners and be appropriate to their habit in planning and frequency of intercourse. Follow-up at appropriate intervals to judge efficacy, titrate dosage of pharmacological treatments and ascertain side effects is mandatory.

  6. Effects of age on systemic inflamatory response syndrome and results of coronary bypass surgery.

    Science.gov (United States)

    Gokalp, Orhan; Yesilkaya, Nihan Karakas; Bozok, Sahin; Besir, Yuksel; Iner, Hasan; Durmaz, Huseyin; Gokkurt, Yasar; Lafci, Banu; Gokalp, Gamze; Yilik, Levent; Gurbuz, Ali

    2017-05-23

    Coronary artery bypass (CAB) surgery triggers systemic inflammatory response syndrome (SIRS) via several mechanisms. Moreover, age is directly correlated with SIRS. We evaluated the effect of age on SIRS and postoperative outcome after CAB surgery. We retrospectively reviewed the records of 229 patients who had undergone CAB surgery. The patients were divided into three groups according to age: group 1, 75 years old (n = 85). Pre- and peri-operative data were assessed in all patients. SIRS was diagnosed according to the criteria established by the 2001 SCCM/ESICM/ACCP/ATS/SIS International Sepsis Definitions Conference. The average pre-operative EuroSCORE value in group 3 was higher than in the other groups and body surface areas were significantly lower in group 3 than in the other groups (p SIRS rates were 68.9% in group 1, 84.3% in group 2 and 91.8% in group 3 (group 1 vs group 3; p 0.05). The predictive factors for SIRS were age, EuroSCORE rate, on-pump CAB surgery and intra-aortic balloon pump use. Age was an important risk factor for SIRS during the postoperative period after CAB.

  7. Increased expression of the Hutchinson-Gilford progeria syndrome truncated lamin A transcript during cell aging.

    Science.gov (United States)

    Rodriguez, Sofia; Coppedè, Fabio; Sagelius, Hanna; Eriksson, Maria

    2009-07-01

    Most cases of the segmental progeroid syndrome, Hutchinson-Gilford progeria syndrome (HGPS), are caused by a de novo dominant mutation within a single codon of the LMNA gene. This mutation leads to the increased usage of an internal splice site that generates an alternative lamin A transcript with an internal deletion of 150 nucleotides, called lamin A Delta 150. The LMNA gene encodes two major proteins of the inner nuclear lamina, lamins A and C, but not much is known about their expression levels. Determination of the overall expression levels of the LMNA gene transcripts is an important step to further the understanding of the HGPS. In this study, we have performed absolute quantification of the lamins A, C and A Delta 150 transcripts in primary dermal fibroblasts from HGPS patients and unaffected age-matched and parent controls. We show that the lamin A Delta 150 transcript is present in unaffected controls but its expression is >160-fold lower than that in samples from HGPS patients. Analysis of transcript expression during in vitro aging shows that although the levels of lamin A and lamin C transcripts remain unchanged, the lamin A Delta 150 transcript increases in late passage cells from HGPS patients and parental controls. This study provides a new method for LMNA transcript analysis and insights into the expression of the LMNA gene in HGPS and normal cells.

  8. Clinical and immunological characteristics of hemorrhagic fever with renal syndrome in women of different age groups

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    Kutdusova A.M.

    2012-09-01

    Full Text Available Objective: To evaluate the clinical and immunological features of the hemorrhagic fever with renal syndrome in women of different age groups. Materials and methods: Clinical and laboratory characteristics of hemorrhagic fever with renal syndrome in 148 women aged 17 to 65 years old have been investigated. Patients have been divided into two groups: group I included 101 patients with normal menstrual rhythm, group II included 47 female patients with menopause. In 57 women (36 from group I, 21 — from group II the content of CD3+, CD4+, CD8+, CD16+, CD19+ — sub-populations of peripheral blood lymphocytes has been determined. Results: In compared groups significant differences in structure and frequency of complications of the disease have been revealed. Unidirectional tendency to increase significantly reduced absolute rates of investigated lymphocyte subpopulations in dynamics of the disease has been identified. It also has been stated that by the time of early convalescence in case of severe form of HFRS the indices did not reach the standard level. In an older group of women deeper damage and long-term recovery of immune system have been marked. Conclusion: According to the results of clinical and immunological studies the research work has revealed that in young women the response of the immune system to HFRS has developed faster and stronger than that in patients during the menopause period.

  9. Aging-like skin changes in metabolic syndrome model mice are mediated by mineralocorticoid receptor signaling.

    Science.gov (United States)

    Nagase, Takashi; Akase, Tomoko; Sanada, Hiromi; Minematsu, Takeo; Ibuki, Ai; Huang, Lijuan; Asada, Mayumi; Yoshimura, Kotaro; Nagase, Miki; Shimada, Tsutomu; Aburada, Masaki; Nakagami, Gojiro; Sugama, Junko

    2013-02-01

    Aging is accelerated, at least in part, by pathological condition such as metabolic syndrome (MetS), and various molecular pathways such as oxidative stress are common mediators of aging and MetS. We previously developed the aging-like skin model by single ultraviolet (UV) irradiation on the MetS model mice. Recent studies revealed that mineralocorticoid receptor (MR) signaling plays a pivotal role for various tissue inflammation and damages in MetS. Although previous studies reported that MR is expressed in the skin and that overexpression of MR in the skin resulted in the skin atrophy, the physiological or pathological functions of MR in the skin are not fully elucidated. Here, we show the involvement of MR signaling in the aging-like skin changes in our own model. Elevations of oxidative stress and inflammation markers were observed in the MetS mice, and the UV-evoked aging-like skin damages were attenuated by topical antioxidant. MR expression was higher in the MetS mouse skin, and notably, expression of its effecter gene Sgk1 was significantly upregulated in the aging-like skin in the UV-irradiated MetS mice. Furthermore, topical application of MR antagonist spironolactone suppressed Sgk1 expression, oxidative stress, inflammation, and the aging-like changes in the skin. The 2-week UV onto the non-MetS mice, the more usual photoaging model, resulted in the skin damages mostly equivalent to the MetS mice with single UV, but they were not associated with upregulation of MR signaling. Our studies suggested an unexpected role of MR signaling in the skin aging in MetS status.

  10. Age is a critical risk factor for severe fever with thrombocytopenia syndrome.

    Directory of Open Access Journals (Sweden)

    Shujun Ding

    Full Text Available Severe Fever with Thrombocytopenia Syndrome (SFTS is an emerging infectious disease in East Asia. SFTS is a tick borne hemorrhagic fever caused by SFTSV, a new bunyavirus named after the syndrome. We investigated the epidemiology of SFTS in Laizhou County, Shandong Province, China.We collected serum specimens of all patients who were clinically diagnosed as suspected SFTS cases in 2010 and 2011 in Laizhou County. The patients' serum specimens were tested for SFTSV by real time fluorescence quantitative PCR (RT-qPCR. We collected 1,060 serum specimens from healthy human volunteers by random sampling in Laizhou County in 2011. Healthy persons' serum specimens were tested for specific SFTSV IgG antibody by ELISA.71 SFTS cases were diagnosed in Laizhou County in 2010 and 2011, which resulted in the incidence rate of 4.1/100,000 annually. The patients ranged from 15 years old to 87 years old and the median age of the patients were 59 years old. The incidence rate of SFTS was significantly higher in patients over 40 years old and fatal cases only occurred in patients over 50 years old. 3.3% (35/1,060 of healthy people were positive to SFTSV IgG antibody. The SFTSV antibody positive rate was not significantly different among people at different age groups.Our results revealed that seroprevalence of SFTSV in healthy people in Laizhou County was not significantly different among age groups, but SFTS patients were mainly elderly people, suggesting that age is the critical risk factor or determinant for SFTS morbidity and mortality.

  11. Impact of rotavirus vaccine on premature infants.

    Science.gov (United States)

    Roué, Jean-Michel; Nowak, Emmanuel; Le Gal, Grégoire; Lemaitre, Thomas; Oger, Emmanuel; Poulhazan, Elise; Giroux, Jean-Dominique; Garenne, Armelle; Gagneur, Arnaud

    2014-10-01

    Infants born preterm are at a higher risk of complications and hospitalization in cases of rotavirus diarrhea than children born at term. We evaluated the impact of a rotavirus vaccination campaign (May 2007 to May 2010) on hospitalizations for rotavirus gastroenteritis in a population of children under 3 years old born prematurely (before 37 weeks of gestation) in the Brest University Hospital birth zone. Active surveillance from 2002 to 2006 and a prospective collection of hospitalizations for rotavirus diarrhea were initiated in the pediatric units of Brest University Hospital until May 2010. Numbers of hospitalizations for rotavirus diarrhea among the population of children born prematurely, before and after the start of the vaccination program, were compared using a Poisson regression model controlling for epidemic-to-epidemic variation. A total of 217 premature infants were vaccinated from 2007 to 2010. Vaccine coverage for a complete course of three doses was 41.9%. The vaccine safety in premature infants was similar to that in term infants. The vaccination program led to a division by a factor of 2.6 (95% confidence interval [CI], 1.3 to 5.2) in the number of hospitalizations for rotavirus diarrhea during the first two epidemic seasons following vaccine introduction and by a factor of 11 (95% CI, 3.5 to 34.8) during the third season. We observed significant effectiveness of the pentavalent rotavirus vaccine on the number of hospitalizations in a population of prematurely born infants younger than 3 years of age. A multicenter national study would provide better assessment of this impact. (This study [Impact of Systematic Infants Vaccination Against Rotavirus on Gastroenteritis Hospitalization: a Prospective Study in Brest District, France (IVANHOE)] has been registered at ClinicalTrials.gov under registration no. NCT00740935.).

  12. Anti-hepatitis C virus seropositivity is not associated with metabolic syndrome irrespective of age, gender and fibrosis.

    Science.gov (United States)

    Cheng, Yuan-Lung; Wang, Yuan-Chen; Lan, Keng-Hsin; Huo, Teh-Ia; Huang, Yi-Hsiang; Su, Chien-Wei; Lin, Han-Chieh; Lee, Fa-Yauh; Wu, Jaw-Ching; Lee, Shou-Dong

    2015-01-01

    Although many studies have tried to clarify the association between hepatitis C virus (HCV) infection and metabolic syndrome, few studies have comprehensively assessed their relationship stratified by different demographic characteristics. We aimed to investigate the correlation between metabolic syndrome and anti-HCV seropositivity in Taiwan. This study enrolled consecutive subjects who had received health check-up services at Taipei Veterans General Hospital from 2002 to 2009. Metabolic syndrome was diagnosed according to the criteria defined by the International Diabetes Federation Task Force on Epidemiology and Prevention. Among the 30616 subjects enrolled in this study, the prevalence of positive anti-HCV serology was 2.7%, and 28.8% were diagnosed with metabolic syndrome. By multivariate analysis, metabolic syndrome was associated with higher body mass index, older age, male sex, a higher level of alanine aminotransferase, gamma-glutamyltransferase, platelet count and the presence of fatty liver whereas anti-HCV seropositivity was not an independent variable for metabolic syndrome. Further stratifying the subjects by age and sex, and there was still no significant difference in HCV status between those with and without metabolic syndrome. Moreover, the stage of liver fibrosis represented by aspartate aminotransferase to platelet ratio index was also not correlated with metabolic syndrome in the subjects with anti-HCV seropositivity. In conclusion, although subjects with anti-HCV seropositivity had higher fasting glucose levels and lower cholesterol and triglyceride levels compared to those with negative anti-HCV test, anti-HCV seropositivity was not associated with metabolic syndrome based on the current diagnostic criteria irrespective of age, gender and the stage of hepatic fibrosis.

  13. Acute renal failure in premature neonates

    Directory of Open Access Journals (Sweden)

    Doronjski Aleksandra

    2009-01-01

    Full Text Available Background/Aim. Hemodynamic stress is the leading cause of acute renal failure (ARF in premature neonates. Incidence of ARF in this population is between 8 and 24%. The aim of this study was to determine the frequency of presence of ARF in premature neonates, as well as its impact on their survival. Methods. A retrospective study of 114 premature neonates [(gestational age, GA less than 37 gestation weeks (gw] admitted to the Intensive Care Unit (ICU at the Pediatric Clinic, Institute of Child and Youth Healthcare of Vojvodina in 2007 was conducted. Serum creatinine, urea and bilirubine were determined on the 3rd day of life in 65 newborns who met inclusion criteria. ARF was diagnosed in 16 newborns (n=16/65; 25%. Results. The premature neonates with ARF had significantly lower GA [<28 gw - 8/16 (50% vs. 5/49 (10%; p < 0.05], birth weight (BW (1 265 g vs. 1615 g; p < 0.05 and systolic blood pressure (43.37 mm Hg vs. 52.7 mmHg; p < 0.05 than ones without ARF. Non-olyguric ARF was diagnosed in 62% of newborns with ARF (n=10/16, while the rest had the olyguric type (n = 6/16; 38%. Twenty-five percent of premature neonates with ARF (n = 4/16 died in contrast to 10% of premature neonates without ARF (n = 5/49. ARF was treated conservatively in all but 3 cases when peritoneal dialysis was performed. Renal function has recovered completely in all of the survivors. In order to determine their predictivity in relation to ARF, following parameters were analyzed: GA, BW < 1 500 g, presence of concomitant sepsis and intracranial hemorrhage grade III/IV. BW < 1 500 g demonstrated the highest sensitivity (se 0.75, while GA < 28 gw, sepsis and intracranial hemorrhage grade III/IV showed high specificity (sp = 0.90, 0.89 0.88, respectively. Conclusion. Acute renal failure frequently occurs in population of premature neonates and requires meticulous fluid and electrolyte balance, especially in the case of low birth weight and extreme immaturity.

  14. Proteins of nucleotide and base excision repair pathways interact in mitochondria to protect from loss of subcutaneous fat, a hallmark of aging

    NARCIS (Netherlands)

    Y. Kamenisch (York); M.I. Fousteri (Maria); J. Knoch (Jennifer); A.K. Von Thaler (Anna Katherina); B. Fehrenbacher (Birgit); H. Kato (Hiroki); T. Becker (Tim); M.E.T. Dollé (Martijn); R. Kuiper (Ruud); M. Majora (Marc); M. Schaller (Martin); G.T.J. van der Horst (Gijsbertus); H. van Steeg (Harry); M. Röcken (Martin); D. Rapaport (Doron); J. Krutmann (Jean); L.H.F. Mullenders (Leon); M. Berneburg (Mark)

    2010-01-01

    textabstractDefects in the DNA repair mechanism nucleotide excision repair (NER) may lead to tumors in xeroderma pigmentosum (XP) or to premature aging with loss of subcutaneous fat in Cockayne syndrome (CS). Mutations of mitochondrial (mt)DNA play a role in aging, but a link between the

  15. Hutchinson - Gilford progeria syndrome: A rare case report.

    Science.gov (United States)

    Kashyap, Subhash; Shanker, Vinay; Sharma, Neeraj

    2014-10-01

    Hutchinson - Gilford Progeria Syndrome is a rare genetic disorder characterized by premature aging involving the skin, bones, heart, and blood vessels. We report a three-year-old boy with clinical manifestations characteristic of this syndrome. He had a characteristic "plucked-bird" appearance, prominent eyes and scalp veins, senile look, loss of scalp hair, eyebrows, and eyelashes, stunted growth, and mottled pigmentation with sclerodermatous changes over the trunk and lower limbs. Radiological changes and decreased high-density lipoprotein (HDL) levels were also characteristic of the syndrome. This interesting case is reported for its rarity.

  16. Hutchinson – Gilford progeria syndrome: A rare case report

    Science.gov (United States)

    Kashyap, Subhash; Shanker, Vinay; Sharma, Neeraj

    2014-01-01

    Hutchinson – Gilford Progeria Syndrome is a rare genetic disorder characterized by premature aging involving the skin, bones, heart, and blood vessels. We report a three-year-old boy with clinical manifestations characteristic of this syndrome. He had a characteristic “plucked-bird” appearance, prominent eyes and scalp veins, senile look, loss of scalp hair, eyebrows, and eyelashes, stunted growth, and mottled pigmentation with sclerodermatous changes over the trunk and lower limbs. Radiological changes and decreased high-density lipoprotein (HDL) levels were also characteristic of the syndrome. This interesting case is reported for its rarity. PMID:25396134

  17. Hutchinson - Gilford progeria syndrome: A rare case report

    Directory of Open Access Journals (Sweden)

    Subhash Kashyap

    2014-01-01

    Full Text Available Hutchinson - Gilford Progeria Syndrome is a rare genetic disorder characterized by premature aging involving the skin, bones, heart, and blood vessels. We report a three-year-old boy with clinical manifestations characteristic of this syndrome. He had a characteristic "plucked-bird" appearance, prominent eyes and scalp veins, senile look, loss of scalp hair, eyebrows, and eyelashes, stunted growth, and mottled pigmentation with sclerodermatous changes over the trunk and lower limbs. Radiological changes and decreased high-density lipoprotein (HDL levels were also characteristic of the syndrome. This interesting case is reported for its rarity.

  18. Oral AGE restriction ameliorates insulin resistance in obese individuals with the metabolic syndrome: a randomised controlled trial.

    Science.gov (United States)

    Vlassara, Helen; Cai, Weijing; Tripp, Elizabeth; Pyzik, Renata; Yee, Kalle; Goldberg, Laurie; Tansman, Laurie; Chen, Xue; Mani, Venkatesh; Fayad, Zahi A; Nadkarni, Girish N; Striker, Gary E; He, John C; Uribarri, Jaime

    2016-10-01

    We previously reported that obese individuals with the metabolic syndrome (at risk), compared with obese individuals without the metabolic syndrome (healthy obese), have elevated serum AGEs that strongly correlate with insulin resistance, oxidative stress and inflammation. We hypothesised that a diet low in AGEs (L-AGE) would improve components of the metabolic syndrome in obese individuals, confirming high AGEs as a new risk factor for the metabolic syndrome. A randomised 1 year trial was conducted in obese individuals with the metabolic syndrome in two parallel groups: L-AGE diet vs a regular diet, habitually high in AGEs (Reg-AGE). Participants were allocated to each group by randomisation using random permuted blocks. At baseline and at the end of the trial, we obtained anthropometric variables, blood and urine samples, and performed OGTTs and MRI measurements of visceral and subcutaneous abdominal tissue and carotid artery. Only investigators involved in laboratory determinations were blinded to dietary assignment. Effects on insulin resistance (HOMA-IR) were the primary outcome. Sixty-one individuals were randomised to a Reg-AGE diet and 77 to an L-AGE diet; the data of 49 and 51, respectively, were analysed at the study end in 2014. The L-AGE diet markedly improved insulin resistance; modestly decreased body weight; lowered AGEs, oxidative stress and inflammation; and enhanced the protective factors sirtuin 1, AGE receptor 1 and glyoxalase I. The Reg-AGE diet raised AGEs and markers of insulin resistance, oxidative stress and inflammation. There were no effects on MRI-assessed measurements. No side effects from the intervention were identified. HOMA-IR came down from 3.1 ± 1.8 to 1.9 ± 1.3 (p insulin resistance in obese people with the metabolic syndrome, and may reduce the risk of type 2 diabetes, without necessitating a major reduction in adiposity. Elevated serum AGEs may be used to diagnose and treat 'at-risk' obesity. ClinicalTrials.gov NCT

  19. The Relationship between Age and Illness Duration in Chronic Fatigue Syndrome

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    Elizabeth Kidd

    2016-04-01

    Full Text Available Chronic fatigue syndrome (CFS is a debilitating illness, but it is unclear if patient age and illness duration might affect symptoms and functioning of patients. In the current study, participants were categorized into four groups based upon age (under or over age 55 and illness duration (more or less than 10 years. The groups were compared on functioning and symptoms. Findings indicated that those who were older with a longer illness duration had significantly higher levels of mental health functioning than those who were younger with a shorter or longer illness duration and the older group with a shorter illness duration. The results suggest that older patients with an illness duration of over 10 years have significantly higher levels of mental health functioning than the three other groups. For symptoms, the younger/longer illness duration group had significantly worse immune and autonomic domains than the older/longer illness group. In addition, the younger patients with a longer illness duration displayed greater autonomic and immune symptoms in comparison to the older group with a longer illness duration. These findings suggest that both age and illness duration need to be considered when trying to understand the influence of these factors on patients.

  20. Age at menarche and its association with the metabolic syndrome and its components: results from the KORA F4 study.

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    Doris Stöckl

    Full Text Available OBJECTIVE: The metabolic syndrome is a major public health challenge and identifies persons at risk for diabetes and cardiovascular disease. The aim of this study was to examine the association between age at menarche and the metabolic syndrome (IDF and NCEP ATP III classification and its components. DESIGN: 1536 women aged 32 to 81 years of the German population based KORA F4 study were investigated. Data was collected by standardized interviews, physical examinations, and whole blood and serum measurements. RESULTS: Young age at menarche was significantly associated with elevated body mass index (BMI, greater waist circumference, higher fasting glucose levels, and 2 hour glucose (oral glucose tolerance test, even after adjusting for the difference between current BMI and BMI at age 25. The significant effect on elevated triglycerides and systolic blood pressure was attenuated after adjustment for the BMI change. Age at menarche was inversely associated with the metabolic syndrome adjusting for age (p-values: <0.001 IDF, 0.003 NCEP classification and additional potential confounders including lifestyle and reproductive history factors (p-values: 0.001, 0.005. Associations remain significant when additionally controlling for recollected BMI at age 25 (p-values: 0.008, 0.033 or the BMI change since age 25 (p-values: 0.005, 0.022. CONCLUSION: Young age at menarche might play a role in the development of the metabolic syndrome. This association is only partially mediated by weight gain and increased BMI. A history of early menarche may help to identify women at risk for the metabolic syndrome.

  1. Sleep Patterns in School-Age Children with Asperger Syndrome or High-Functioning Autism: A Follow-Up Study

    Science.gov (United States)

    Allik, Hiie; Larsson, Jan-Olov; Smedje, Hans

    2008-01-01

    The course of sleep patterns over 2-3 years was compared between 16 school-age children with Asperger syndrome (AS) or high-functioning autism (HFA) and 16 age- and gender-matched typically developing children, using 1-week actigraphy at baseline and follow-up. At baseline (mean age 11.1 years), children with AS/HFA had longer sleep latency and…

  2. Premature and accelerated aging: HIV or HAART?

    NARCIS (Netherlands)

    Smith, R.L.; de Boer, R.; Brul, S.; Budovskaya, Y.; van der Spek, H.

    2013-01-01

    Highly active antiretroviral therapy (HAART) has significantly increased life expectancy of the human immunodeficiency virus (HIV)-positive population. Nevertheless, the average lifespan of HIV-patients remains shorter compared to uninfected individuals. Immunosenescence, a current explanation for

  3. Skeletal abnormalities of acrogeria, a progeroid syndrome

    Energy Technology Data Exchange (ETDEWEB)

    Ho, A.; White, S.J.; Rasmussen, J.E.

    1987-08-01

    We report the skeletal abnormalities in a 4 1/2-year-old boy with acrogeria, a progeroid syndrome of premature aging of the skin without the involvement of internal organs seen in Hutchinson-Gilford progeria syndrome. Acro-osteolysis of the distal phalanges, delayed cranial suture closure with wormian bones, linear lucent defects of the metaphyses, and antegonial notching of the mandible are the predominant skeletal features of the disorder. The skeletal features described in 21 other reported cases of acrogeria are summarized.

  4. Prenatal Stress, Prematurity, and Asthma.

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    Medsker, Brock; Forno, Erick; Simhan, Hyagriv; Celedón, Juan C

    2015-12-01

    Asthma is the most common chronic disease of childhood, affecting millions of children in the United States and worldwide. Prematurity is a risk factor for asthma, and certain ethnic or racial minorities such as Puerto Ricans and non-Hispanic blacks are disproportionately affected by both prematurity and asthma. In this review, we examine current evidence to support maternal psychosocial stress as a putative link between prematurity and asthma, while also focusing on disruption of the hypothalamic-pituitary-adrenal (HPA) axis and immune responses as potential underlying mechanisms for stress-induced "premature asthma." Prenatal stress may cause not only abnormalities in the HPA axis but also epigenetic changes in the fetal glucocorticoid receptor gene (NR3C1), leading to impaired glucocorticoid metabolism. Moreover, maternal stress can alter fetal cytokine balance, favoring TH2 (allergic) immune responses characteristic of atopic asthma: interleukin 6 (IL-6), which has been associated with premature labor, can promote TH2 responses by stimulating production of IL-4 and IL-13. Given a link among stress, prematurity, and asthma, future research should include birth cohorts aimed at confirming and better characterizing "premature asthma." If confirmed, clinical trials of prenatal maternal stress reduction would be warranted to reduce the burden of these common comorbidities. While awaiting the results of such studies, sound policies to prevent domestic and community violence (eg, from firearms) are justified, not only by public safety but also by growing evidence of detrimental effects of violence-induced stress on psychiatric and somatic health.

  5. Circulating hematopoietic stem cell count is a valuable predictor of prematurity complications in preterm newborns

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    Kotowski Maciej

    2012-09-01

    Full Text Available Abstract Background The frequency of preterm labour has risen over the last few years. Hence, there is growing interest in the identification of markers that may facilitate prediction and prevention of premature birth complications. Here, we studied the association of the number of circulating stem cell populations with the incidence of complications typical of prematurity. Methods The study groups consisted of 90 preterm (23–36 weeks of gestational age and 52 full-term (37–41 weeks infants. Non-hematopoietic stem cells (non-HSCs; CD45-lin-CD184+, enriched in very small embryonic-like stem cells (VSELs, expressing pluripotent (Oct-4, Nanog, early neural (β-III-tubulin, and oligodendrocyte lineage (Olig-1 genes as well as hematopoietic stem cells (HSCs; CD45+lin-CD184+, and circulating stem/progenitor cells (CSPCs; CD133+CD34+; CD133-CD34+ in association with characteristics of prematurity and preterm morbidity were analyzed in cord blood (CB and peripheral blood (PB until the sixth week after delivery. Phenotype analysis was performed using flow cytometry methods. Clonogenic assays suitable for detection of human hematopoietic progenitor cells were also applied. The quantitative parameters were compared between groups by the Mann–Whitney test and between time points by the Friedman test. Fisher’s exact test was used for qualitative variables. Results We found that the number of CB non-HSCs/VSELs is inversely associated with the birth weight of preterm infants. More notably, a high number of CB HSCs is strongly associated with a lower risk of prematurity complications including intraventricular hemorrhage, respiratory distress syndrome, infections, and anemia. The number of HSCs remains stable for the first six weeks of postnatal life. Besides, the number of CSPCs in CB is significantly higher in preterm infants than in full-term neonates (p  Conclusion We conclude that CB HSCs are markedly associated with the development of premature

  6. Premature ovarian insufficiency: Pathogenesis and management

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    Anna J Fenton

    2015-01-01

    Full Text Available The term premature ovarian insufficiency (POI describes a continuum of declining ovarian function in a young woman, resulting in an earlier than average menopause. It is a term that reflects the variable nature of the condition and is substantially less emotive than the formerly used "premature ovarian failure" which signaled a single event in time. Contrary to the decline in the age of menarche seen over the last 3-4 decades there has been no similar change in the age of menopause. In developed nations, the average age for cessation of menstrual cycles is 50-52 years. The age is younger among women from developing nations. Much has been written about POI despite a lack of good data on the incidence of this condition. It is believed that 1% of women under the age of 40 years and 0.1% under the age of 30 years will develop POI. Research is increasingly providing information about the pathogenesis and treatments are being developed to better preserve ovarian function during cancer treatment and to improve fertility options. This narrative review summarizes the current literature to provide an approach to best practice management of POI.

  7. What associates Charles Bonnet syndrome with age-related macular degeneration?

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    Vojniković, Bozo; Radeljak, Sanja; Dessardo, Sandro; Zarković-Palijan, Tija; Bajek, Goran; Linsak, Zeljko

    2010-04-01

    Charles Bonnet syndrome (CBS) is a condition related to patients with visual loss due to age related macular degeneration or glaucoma that are having complex visual hallucinations. The CBS was first described by Swiss physician Charles Bonnet in 1760. Affected patients, who are otherwise mentally healthy people with significant visual loss, have vivid, complex recurrent visual hallucinations (VHs). One characteristic of these hallucinations is that they usually are "Lilliputian hallucinations" as patients experience micropsia (hallucinations in which the characters or objects are distorted and much smaller than normal). The prevalence of Charles Bonnet Syndrome has been reported to be between 10% and 40%; a recent Australian study has found the prevalence to be 17.5%. The high incidence of non-reported CBS is thought to be as a result of patient's fear to report the symptoms as they could be labeled as mentally insane since those type of visual hallucinations could be found in variety of psychiatric and neurological disorders such as drug or alcohol abuse (delirium tremens), Alice in Wonderland syndrome (AIWS), psychosis, schizophrenia, dementia, narcolepsy, epilepsy, Parkinson disease, brain tumors, migraine, as well as, in long term sleep deprivation. VHs can also be presented as the initial sign of the Epstein-Barr virus infection in infectious mononucleosis. Patients who suffer from CBS usually possess insight into the unreality of their visual experiences, which are commonly pleasant but may sometimes cause distress. The hallucinations consist of well-defined, organized, and clear images over which the subject has little control. It is believed that they represent release phenomena due to deafferentiation of the visual association areas of the cerebral cortex, leading to a form of phantom vision. Cognitive defects, social isolation, and sensory deprivation have also been implicated in the etiology of this condition. This study was conducted on 350 patients

  8. 小于2岁婴幼儿乳房早发育临床随访研究%A clinical follow-up study of premature thelarche in infants under two years of age

    Institute of Scientific and Technical Information of China (English)

    王应旻; 梁黎; 方燕兰; 傅君芬; 董关萍; 王春林

    2013-01-01

    目的 了解小于2岁婴幼儿乳房发育的临床现况及转归,分析影响乳房消退的相关因素.方法 分析2009年10月至2010年9月间因乳房早发育来我院内分泌科就诊的863例2岁以下患儿临床及实验诊断资料并进行纵向随访研究.结果 小于2岁单纯乳房早发育患儿中绝大多数(89.3%)在3周岁内消退,乳房消退平均年龄为17±6月龄;小部分(10.7%)反复或持续增大,3岁后仍不消退,极少数转变为中枢性性早熟.初诊时乳房Tanner分期和基础E2值升高与否是影响乳房消退的独立危险因素.结论 小于2岁婴幼儿乳房早发育在临床并不少见,大多呈自限性病程,3周岁内可消退,但对2岁以上乳房增大持续不消退者要定期随访.%Objective To investigate the clinical status and natural course of premature thelarche (PT) in infants under 2 years of age and to analyze the predictive factors for regression of thelarche. Methods The clinical and laboratory data of 863 infants under 2 years of age, who visited the department of endocrinology in our hospital due to PT between October 2009 and September 2010, were analyzed. A a longitudinal follow-up study was performed. Results Of the infants under 2 years of age with isolated PT, 89. 3% showed a regression before the age of 3 years (mean 17 ± 5. 6 months), 10.7% had recurrent or persistent thelarche, with no regression after the age of 3 years, and some even developed into central precocious puberty. The independent predictive factors for regression of thelarche were Tanner stage at the first visit and whether baseline estradiol level had increased. Conclusions PT in infants under 2 years of age is not rare in the clinical setting, and it usually runs a self-limited course, subsiding before the age of 3 years. However, regular follow-ups should be performed for infants aged over 2 years with persistent thelarche.

  9. Hutchinson-Gilford Progeria Syndrome

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    Gopal G

    2014-08-01

    Full Text Available Hutchinson-Gilford Progeria syndrome (HGPS is a rare pediatric genetic syndrome associated with a characteristic aged appearance very early in life, generally leading to death in the second decade of life. Apart from premature aging, the other notable characteristics of children with HGPS include extreme short stature, prominent superficial veins, poor weight gain, alopecia, as well as various skeletal and cardiovascular pathologies associated with advanced age. The pattern of inheritance of HGPS is uncertain, though both autosomal dominant and autosomal recessive modes have been described. Recent genetic studies have demonstrated mutations in the LMNA gene in children with HGPS. In this article, we report a 16 years old girl who had the phenotypic features of HGPS and was later confirmed to have LMNA mutation by genetic analysis.

  10. Predictive value of serum cholinesterase for the prognosis of aged patients with systemic inflammatory response syndrome

    Institute of Scientific and Technical Information of China (English)

    JIN Qi-hui; HE Xiao-jun; LI Tian-lang; CHEN Huai-hong

    2011-01-01

    Background Some studies found that cholinesterase (ChE) can be an independent risk factor for patients with multiple organ dysfunction syndrome.To assess aged patients with systemic inflammatory response syndrome (SIRS) early and predict their prognosis,the predictive value of ChE for the prognosis of aged patients with SIRS was analyzed.Methods From September 2009 to September 2010,all aged patients with SIRS in the ICU of the Second Affiliated Hospital of Zhejiang University School of Medicine were retrospectively analyzed if they met inclusion criteria:patients aged >65 years and met American College of Chest Physicians/Society of Critical Care Medicine Consensus Conference criteria for SIRS.Serum ChE,albumin,D-dimer,lactic acid and C-reactive protein (CRP) were measured,and the Acute Physiology and Chronic Health Evaluation (APACHE) Ⅱ and Glasgow Coma Scale (GCS) scores were evaluated within the first 24 hours in the ICU.Fisher's exact test was used for comparison of the primary disease between the deceased group and surviving group.For comparison of study variables between the two groups,the Student's t test or Mann-Whitney U test was used.Multivariate significance was tested with binary Logistic regression analysis.Results The clinical data of 124 aged patients with SIRS were collected and analyzed.Sixty-six patients (46 male,20female,mean age (78.70±8.08) years) who died were included in the deceased group and 58 patients (34 male,24female,mean age (76.02±6.57) years) who survived were included in the surviving group.There were no significant differences in age,gender,APACHE Ⅱ score and GCS score between the deceased group and surviving group (all P>0.05),but there were significant differences in lactic acid (P=0.011),D-dimer (P=0.011),albumin (P=0.007),CRP (P=0.008),and ChE (P <0.0001).The correlation analysis showed that the APACHE Ⅱ score and CRP were not correlated with ChE (both P <0.05).D-dimer and albumin were correlated with Ch

  11. Scleroderma of geriatric age and scleroderma-like paraneoplastic syndrome – description of two cases

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    Magdalena Marek

    2016-06-01

    Full Text Available Systemic sclerosis (Ssc is an autoimmune connective tissue disease of unknown origin, characterized by progressive fibrosis of the skin and internal organs. Immune reactions taking part in Ssc pathogenesis may contribute to cancer development; therefore patients with risk factors for this disease require observation for a neoplastic process. On the other hand, symptoms of Ssc may be a mask of various cancers. Differentiating between the idiopathic form of Ssc and scleroderma-like paraneoplastic syndrome often causes a lot of difficulties. The article presents two cases of Ssc at the beginning of the disease after 60 years of age. The first case was diagnosed as Ssc, whereas in the second case the defined diagnosis was scleroderma-like syndrome in the course of colorectal cancer. This paper presents an analysis of differential diagnostic procedures which were performed and led to the final diagnosis, mentions types of cancers co-occurring with Ssc and suggests a screening scheme for cancer development in patients with a diagnosis of Ssc.

  12. Scleroderma of geriatric age and scleroderma-like paraneoplastic syndrome - description of two cases.

    Science.gov (United States)

    Marek, Magdalena; Rudny, Robert

    2016-01-01

    Systemic sclerosis (Ssc) is an autoimmune connective tissue disease of unknown origin, characterized by progressive fibrosis of the skin and internal organs. Immune reactions taking part in Ssc pathogenesis may contribute to cancer development; therefore patients with risk factors for this disease require observation for a neoplastic process. On the other hand, symptoms of Ssc may be a mask of various cancers. Differentiating between the idiopathic form of Ssc and scleroderma-like paraneoplastic syndrome often causes a lot of difficulties. The article presents two cases of Ssc at the beginning of the disease after 60 years of age. The first case was diagnosed as Ssc, whereas in the second case the defined diagnosis was scleroderma-like syndrome in the course of colorectal cancer. This paper presents an analysis of differential diagnostic procedures which were performed and led to the final diagnosis, mentions types of cancers co-occurring with Ssc and suggests a screening scheme for cancer development in patients with a diagnosis of Ssc.

  13. Scleroderma of geriatric age and scleroderma-like paraneoplastic syndrome – description of two cases

    Science.gov (United States)

    Rudny, Robert

    2016-01-01

    Systemic sclerosis (Ssc) is an autoimmune connective tissue disease of unknown origin, characterized by progressive fibrosis of the skin and internal organs. Immune reactions taking part in Ssc pathogenesis may contribute to cancer development; therefore patients with risk factors for this disease require observation for a neoplastic process. On the other hand, symptoms of Ssc may be a mask of various cancers. Differentiating between the idiopathic form of Ssc and scleroderma-like paraneoplastic syndrome often causes a lot of difficulties. The article presents two cases of Ssc at the beginning of the disease after 60 years of age. The first case was diagnosed as Ssc, whereas in the second case the defined diagnosis was scleroderma-like syndrome in the course of colorectal cancer. This paper presents an analysis of differential diagnostic procedures which were performed and led to the final diagnosis, mentions types of cancers co-occurring with Ssc and suggests a screening scheme for cancer development in patients with a diagnosis of Ssc. PMID:27407287

  14. [Premature newborn: a case presentation].

    Science.gov (United States)

    Pastor Rodríguez, Jesús David; Pastor Bravo, María Del Mar; López García, Visitación; Cotes Teruel, María Isabel; Mellado, Jesús Eulogio; Cárceles, José Jara

    2010-01-01

    A case is presented of a premature newborn of 27 weeks gestation and weighing 420 grams who was delivered as a result of a maternal pre-eclampsia and retarded intra-uterine growth. During the 125 days of hospitalisation, an individual care plan based on the Virginia Henderson model was devised and applied to both the child and her parents using NANDA diagnostics, interventions according to the NIC classification, and the expected results according to the NOC classification. The Marjory Gordon functional patterns were used for the initial assessment. By applying the pre-term newborn (PTNB) plan, all their needs were provided and were modified throughout the hospital stay, with new needs that were added to the established ones. These required a continuous assessment with the subsequent adapting of the care plan. Likewise, the care required by the parents varied from the initial grief due to the possible loss of their child to learning the alarm signs and the home care that their child would need. The child was finally discharged weighing 2900 grams and with normal neurological and psychomotor development, although with a lower weight appropriate to her age. Currently, at 2 years old, the child has a normal neurological and psychomotor development, but with weight and size lower than the P(3) percentile. She requires speech therapy treatment due to paralysis of the right vocal cord.

  15. Premature exfoliation of teeth in childhood and adolescence.

    Science.gov (United States)

    Hartsfield, J K

    1994-01-01

    Although the premature loss of primary teeth in conjunction with early eruption may be of no clinical significance, the loss of primary or permanent teeth in the absence of trauma should not be overlooked by the clinician. Premature loss of teeth associated with systemic disease usually results from some change in the immune system or connective tissue. This chapter presented some conditions associated with loosening and/or premature loss of teeth that may be encountered in children and adolescents. The most common of these conditions appear to be hypophosphatasia and early-onset periodontitis. Other less common conditions were described to aid in forming a differential diagnosis. Other diseases that may manifest with severe oral infection, such as Wiskott-Aldrich syndrome, diabetes mellitus, or herpes zoster, could result in early tooth loss.

  16. Neuroinflammation in the Aging Down Syndrome Brain; Lessons from Alzheimer's Disease

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    Donna M. Wilcock

    2012-01-01

    Full Text Available Down syndrome (DS is the most genetic cause of mental retardation and is caused by the triplication of chromosome 21. In addition to the disabilities caused early in life, DS is also noted as causing Alzheimer's-disease-like pathological changes in the brain, leading to 50–70% of DS patients showing dementia by 60–70 years of age. Inflammation is a complex process that has a key role to play in the pathogenesis of Alzheimer's disease. There is relatively little understood about inflammation in the DS brain and how the genetics of DS may alter this inflammatory response and change the course of disease in the DS brain. The goal of this review is to highlight our current understanding of inflammation in Alzheimer's disease and predict how inflammation may affect the pathology of the DS brain based on this information and the known genetic changes that occur due to triplication of chromosome 21.

  17. Prognostic factors in de novo myelodysplastic syndrome in young and middle-aged people

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    Наталья Николаевна Климкович

    2015-01-01

    Full Text Available We spent multivariate analysis of clinical and laboratory parameters for the prediction of de-novo myelodysplastic syndromes (MDS patients aged 18-60 years. The results of clinical application of prognostic systems in MDS show that there is a large variability within individual risk groups, especially at low-risk MDS. So now hematologists conduct research aimed at identifying additional adverse risk MDS. This is done so that patients with low-risk MDS embodiments and unfavorable prognosis could benefit from early therapeutic intervention, and not only be clinician monitored until disease progression. We found that additional adverse risk factors for the development of MDS are the expression of CD95 in bone marrow ≤40 % and FLT3≥60 %. The expression level of CD95 in bone marrow cells≤40 % and FLT3≥60 % can be considered as a prognostic marker progression of MDS and time start specific therapy

  18. Neuroinflammation in the aging down syndrome brain; lessons from Alzheimer's disease.

    Science.gov (United States)

    Wilcock, Donna M

    2012-01-01

    Down syndrome (DS) is the most genetic cause of mental retardation and is caused by the triplication of chromosome 21. In addition to the disabilities caused early in life, DS is also noted as causing Alzheimer's-disease-like pathological changes in the brain, leading to 50-70% of DS patients showing dementia by 60-70 years of age. Inflammation is a complex process that has a key role to play in the pathogenesis of Alzheimer's disease. There is relatively little understood about inflammation in the DS brain and how the genetics of DS may alter this inflammatory response and change the course of disease in the DS brain. The goal of this review is to highlight our current understanding of inflammation in Alzheimer's disease and predict how inflammation may affect the pathology of the DS brain based on this information and the known genetic changes that occur due to triplication of chromosome 21.

  19. McCune-Albright syndrome: persistence of autonomous ovarian hyperfunction during adolescence and early adult age.

    Science.gov (United States)

    Matarazzo, Patrizia; Lala, Roberto; Andreo, Maria; Einaudi, Silvia; Altare, Franco; Viora, Elsa; Buzi, Fabio; De Luca, Filippo; De Sanctis, Vincenzo; Rigon, Franco; Wasniewska, Malgorzata; de Sanctis, Luisa; de Sanctis, Carlo

    2006-05-01

    Gonadal hyperfunction is the most frequent endocrine dysfunction in females with McCune-Albright syndrome (MAS). Peripheral precocious puberty is usually the first MAS manifestation in children, characterized by episodes of hypersecretion of estrogens with a consequent reduction in gonadotropin secretion. Little is known about the course of this endocrine disease in adolescence and during young adult life. The aim of this study was to evaluate ovarian function in 10 females with MAS (age 11.4-20.1 years) to detect the persistence of autonomous ovarian hyperfunction throughout and following adolescence, after at least 1 year wash out of any treatment for precocious puberty. LH, FSH, estradiol, prolactin, androgen secretion, ovarian and breast sonography in luteal and follicular phases of some menstrual cycles were evaluated. We demonstrated the persistence of some ovarian autonomy, documented by hyperestrogenism and/or low or absent gonadotropin secretion and/or ovarian cysts.

  20. Aging in Down Syndrome and the Development of Alzheimer's Disease Neuropathology.

    Science.gov (United States)

    Head, Elizabeth; Lott, Ira T; Wilcock, Donna M; Lemere, Cynthia A

    2016-01-01

    Chromosome 21, triplicated in Down Syndrome, contains several genes that are thought to play a critical role in the development of AD neuropathology. The overexpression of the gene for the amyloid precursor protein (APP), on chromosome 21, leads to early onset beta-amyloid (Aβ) plaques in DS. In addition to Aβ accumulation, middle-aged people with DS develop neurofibrillary tangles, cerebrovascular pathology, white matter pathology, oxidative damage, neuroinflammation and neuron loss. There is also evidence of potential compensatory responses in DS that benefit the brain and delay the onset of dementia after there is sufficient neuropathology for a diagnosis of AD. This review describes some of the existing literature and also highlights gaps in our knowledge regarding AD neuropathology in DS. It will be critical in the future to develop networked brain banks with standardized collection procedures to fully characterize the regional and temporal pathological events associated with aging in DS. As more information is acquired regarding AD evolution in DS, there will be opportunities to develop interventions that are age-appropriate to delay AD in DS.

  1. Late-Onset Hypogonadism in Male Patients Over 60 Years of Age with Metabolic Syndrome

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    Ekrem Kara

    2013-06-01

    Full Text Available Purpose: The aim of the study was to determine serum androgen levels and the frequency of late-onset hypogonadism (LOH in patients over 60 years of age with metabolic syndrome (MS and its correlation with parameters of MS. Material and Method: Men over 60 years of age who were diagnosed with MS according to the Adult Treatment Panel III (ATP III criteria in the internal medicine outpatient clinics at Cerrahpasa Medical School (n=30 and healthy controls (n=30 were included in the study. Total testosterone and sex hormone binding globulin (SHBG levels were analysed. Bioavailable and free testosterone levels were calculated. The participants filled up the Beck Depression Inventory (BDI and Aging Male Symptoms (AMS questionnaire forms themselves without any help of the physician. Results: LOH rates were 30% and 13.3% in the MS group and healthy control group, respectively (p=0.11. Serum total testosterone and SHBG levels were significantly lower in the MS group compared to controls (p=0.004 and p=0.003, respectively. A negative correlation was found between total testosterone and MS components. BDI and AMS questionnaire scores in the two groups were not significantly different.Discussion: Serum total testosterone and SHBG levels were lower in the MS group, and inversely proportional to this, insulin resistance and intensity of MS components were increased. Turk Jem 2013; 17: 22-7

  2. Age-Dependent Defects of Regulatory B Cells in Wiskott-Aldrich Syndrome Gene Knockout Mice.

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    Tadafumi Yokoyama

    Full Text Available The Wiskott-Aldrich syndrome (WAS is a rare X-linked primary immunodeficiency characterized by recurrent infections, thrombocytopenia, eczema, and high incidence of malignancy and autoimmunity. The cellular mechanisms underlying autoimmune complications in WAS have been extensively studied; however, they remain incompletely defined. We investigated the characteristics of IL-10-producing CD19+CD1dhighCD5+ B cells (CD1dhighCD5+ Breg obtained from Was gene knockout (WKO mice and found that their numbers were significantly lower in these mice compared to wild type (WT controls. Moreover, we found a significant age-dependent reduction of the percentage of IL-10-expressing cells in WKO CD1dhighCD5+ Breg cells as compared to age-matched WT control mice. CD1dhighCD5+ Breg cells from older WKO mice did not suppress the in vitro production of inflammatory cytokines from activated CD4+ T cells. Interestingly, CD1dhighCD5+ Breg cells from older WKO mice displayed a basal activated phenotype which may prevent normal cellular responses, among which is the expression of IL-10. These defects may contribute to the susceptibility to autoimmunity with age in patients with WAS.

  3. Low-grade systemic inflammation connects aging, metabolic syndrome and cardiovascular disease.

    Science.gov (United States)

    Guarner, Verónica; Rubio-Ruiz, Maria Esther

    2015-01-01

    Aging is associated with immunosenescence and accompanied by a chronic inflammatory state which contributes to metabolic syndrome, diabetes and their cardiovascular consequences. Risk factors for cardiovascular diseases (CVDs) and diabetes overlap, leading to the hypothesis that both share an inflammatory basis. Obesity is increased in the elderly population, and adipose tissue induces a state of systemic inflammation partially induced by adipokines. The liver plays a pivotal role in the metabolism of nutrients and exhibits alterations in the expression of genes associated with inflammation, cellular stress and fibrosis. Hepatic steatosis and its related inflammatory state (steatohepatitis) are the main hepatic complications of obesity and metabolic diseases. Aging-linked declines in expression and activity of endoplasmic reticulum molecular chaperones and folding enzymes compromise proper protein folding and the adaptive response of the unfolded protein response. These changes predispose aged individuals to CVDs. CVDs and endothelial dysfunction are characterized by a chronic alteration of inflammatory function and markers of inflammation and the innate immune response, including C-reactive protein, interleukin-6, TNF-α, and several cell adhesion molecules are linked to the occurrence of myocardial infarction and stroke in healthy elderly populations and patients with metabolic diseases.

  4. Cockayne syndrome group B protein promotes mitochondrial DNA stability by supporting the DNA repair association with the mitochondrial membrane

    DEFF Research Database (Denmark)

    Aamann, Maria Diget; Sorensen, Martin M; Hvitby, Christina Poulsen;

    2010-01-01

    Cockayne syndrome (CS) is a human premature aging disorder associated with severe developmental deficiencies and neurodegeneration, and phenotypically it resembles some mitochondrial DNA (mtDNA) diseases. Most patients belong to complementation group B, and the CS group B (CSB) protein plays a role...

  5. Prevalence and Predisposing Factors of Retinopathy of Prematurity in Very Low-Birth-Weight Infants Discharged from NICU

    Directory of Open Access Journals (Sweden)

    Sina Ahmadi

    2009-03-01

    Full Text Available Objective: Retinopathy of prematurity (ROP is a disease of the eye caused by disorganized growth of retinal blood vessels resulting in scarring and retinal detachment. All preterm babies are at high risk for ROP, and very low birth weight is an additional risk factor. An increased incidence of ROP is expected in Iran because of improved survival of low birth weight and premature babies, and it is obvious that pediatricians and ophthalmologists are concerned about prevention and timely treatment of ROP in these children. To asses the real situation of ROP in our NICU we studied its prevalence and risk factors. Methods: This was a retrospective analysis of premature infants with birth weight of ≤1500 grams or gestational age of ≤32 weeks, admitted April 1, 2005 to March 28, 2006, to the Neonatal Intensive Care Unit of Qaem Hospital, Mashhad, Iran. The collected data of 47 cases in this cross-sectional study are analyzed by SPSS (Mann_Whitney, t-Student. Findings: Forty five infants were included in the study. Out of these, 4 (8.5% developed ROP (inclusive all stages. Our analysis revealed that low gestational age, sepsis and respiratory distress syndrome were independent predictors for the development of ROP. Conclusion:The frequency of ROP in our hospital was lower than the range reported in developed countries, and our risk factors were a little different.

  6. Relationship of age, body mass index, wrist and waist circumferences to carpal tunnel syndrome severity.

    Science.gov (United States)

    Komurcu, Hatice Ferhan; Kilic, Selim; Anlar, Omer

    2014-01-01

    Carpal tunnel syndrome (CTS) has a multifactorial etiology involving systemic, anatomical, idiopathic, and ergonomic characteristics. In this study, an investigation of the relationship between the CTS degree established by electrophysiological measurements in patients with clinical CTS prediagnosis, and age, gender, body mass index (BMI), hand wrist circumference, and waist circumference measurements has been done. On 547 patients included in the study, motor and sensory conduction examinations of the median and ulnar nerve were done on one or two upper extremities thought to have CTS. In terms of CTS severity, the patients were divided into four groups (normal, mild, medium, and severe CTS). A total of 843 electrophysiological examinations were done consisting of 424 on the right hand wrist and 419 on the left hand wrist. When the age group of 18-35 years is taken as the reference group, the CTS development risk independent of BMI has been found to have increased by a factor of 1.86 for ages 36-64 years, and by 4.17 for ages 65 years and higher after adjustment for BMI. With respect to normal degree CTS group, the BMI were significantly different in groups with mild, medium, and severe CTS. The waist circumferences of groups with mild, medium, and severe CTS severity were found to be significantly higher in comparison to the normal reference group. When this value was corrected with BMI and re-examined the statistically significant differences persisted. The study identified a significant relationship between the CTS severity and age, BMI, waist circumference.

  7. Gender and Age Impacts on the Association Between Thyroid Function and Metabolic Syndrome in Chinese.

    Science.gov (United States)

    Meng, Zhaowei; Liu, Ming; Zhang, Qing; Liu, Li; Song, Kun; Tan, Jian; Jia, Qiang; Zhang, Guizhi; Wang, Renfei; He, Yajing; Ren, Xiaojun; Zhu, Mei; He, Qing; Wang, Shen; Li, Xue; Hu, Tianpeng; Liu, Na; Upadhyaya, Arun; Zhou, Pingping; Zhang, Jianping

    2015-12-01

    The relationship between thyroid dysfunction and metabolic syndrome (MS) is complex. We aimed to explore the impact of gender and age on their association in a large Chinese cohort. This cross-sectional study enrolled 13,855 participants (8532 male, 5323 female), who self-reported as healthy without any known previous diseases. Clinical data including anthropometric measurements, thyroid function, and serum metabolic parameters were collected. The associations between thyroid function and MS of both genders were analyzed separately after dividing thyroid-stimulating hormone (TSH), free triiodothyronine (FT3), and age into subgroups. MS risks were calculated by binary logistic regression models. Young males had significantly higher MS prevalence than females, yet after menopause, females had higher prevalence than males. Females had higher incidence of thyroid dysfunction than males. By using TSH quartiles as the categorical variables and the lowest quartile as reference, significantly increased MS risk was demonstrated in quartile 4 for males, yet quartiles 3 and 4 for females. By using FT3 quartiles as the categorical variables, significantly increased MS risk was demonstrated in quartile 2 to 4 for females only. By using age subgroups as the categorical variables, significantly increased MS risk was shown in both genders, with females (4.408-58.455) higher than males (2.588-4.943). Gender and age had substantial influence on thyroid function and MS. Females with high TSH and high FT3 had higher MS risks than males. Aging was a risk for MS, especially for females. Urgent need is necessary to initiate interventional programs.

  8. Age-dependent resistance to Porcine reproductive and respiratory syndrome virus replication in swine

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    Bautista Elida M

    2009-10-01

    Full Text Available Abstract Background Porcine reproductive and respiratory syndrome virus (PRRSV causes a prolonged, economically devastating infection in pigs, and immune resistance to infection appears variable. Since the porcine adaptive immune system is not fully competent at birth, we hypothesized that age influences the dynamics of PRRSV infection. Thus, young piglets, growing 16-20-week-old finisher pigs, and mature third parity sows were infected with virulent or attenuated PRRSV, and the dynamics of viral infection, disease, and immune response were monitored over time. Results Virulent PRRSV infection and disease were markedly more severe and prolonged in young piglets than in finishers or sows. Attenuated PRRSV in piglets also produced a prolonged viremia that was delayed and reduced in magnitude, and in finishers and sows, about half the animals showed no viremia. Despite marked differences in infection, antibody responses were observed in all animals irrespective of age, with older pigs tending to seroconvert sooner and achieve higher antibody levels than 3-week-old animals. Interferon γ (IFN γ secreting peripheral blood mononuclear cells were more abundant in sows but not specifically increased by PRRSV infection in any age group, and interleukin-10 (IL-10 levels in blood were not correlated with PRRSV infection status. Conclusion These findings show that animal age, perhaps due to increased innate immune resistance, strongly influences the outcome of acute PRRSV infection, whereas an antibody response is triggered at a low threshold of infection that is independent of age. Prolonged infection was not due to IL-10-mediated immunosuppression, and PRRSV did not elicit a specific IFN γ response, especially in non-adult animals. Equivalent antibody responses were elicited in response to virulent and attenuated viruses, indicating that the antigenic mass necessary for an immune response is produced at a low level of infection, and is not predicted by

  9. Characteristics of Adults with Down Syndrome: prevalence of age-related conditions

    Directory of Open Access Journals (Sweden)

    Angelo eCarfì

    2014-12-01

    Full Text Available Introduction. In the last decades, life expectancy of persons with Down syndrome (DS has dramatically increased and it is estimated that they will be living as long as the general population within a generation. Despite being included among the progeroid syndromes, because of the presence of features typically observed in older adults, DS is still regarded as a disease of pediatric interest. Because limited knowledge is available on the clinical characteristics of adults with DS, this study aimed to assess clinical and non-clinical features of this population and to describe similarities to the geriatric population. Methods. In this study, we described 60 adults with DS evaluated at the Day Hospital of the Geriatric Department of the Policlinico A. Gemelli, Università Cattolica del Sacro Cuore in Rome. Individuals were assessed through a standardized protocol. Results. The mean age of study participants was 38 years (range, 18 to 58 years and 42 (70.0% were women. Geriatric conditions were highly prevalent: severe cognitive impairment was diagnosed in 39 (65.0% participants, behavioral symptoms were present in 25 (41.7% and functional impairment in 23 (38.3%. Six (10.0% participants lived in institutions and 11 (18.3% were diagnosed as obese. The mean number of drugs used was 2.4; use of psychotropic drugs was highly prevalent. The most common chronic diseases were thyroid problems (44, 73.3%, followed by mood disorders (19, 31.7%, osteoporosis (18, 30.0% and cardiac problems (10, 16.7%. Geriatric conditions and chronic diseases were more prevalent among participants aged ≥40 years. Conclusions. Several similarities between older adults and adults with DS were observed. Comorbidities, geriatric conditions, cognitive and functional deficits and social problems are highly prevalent in both populations, contributing to the high complexity of these patients’ assessment and treatment.

  10. Prevalence and sociodemographic correlates of metabolic syndrome in school-aged children and their parents in nine Mesoamerican countries.

    Science.gov (United States)

    Villamor, Eduardo; Finan, Caitlin C; Ramirez-Zea, Manuel; Roman, Ana Victoria

    2017-02-01

    To ascertain the prevalence and sociodemographic correlates of cardiometabolic risk factors in adults and school-aged children from Mesoamerica. Cross-sectional study with convenience sampling. In adults, metabolic syndrome was defined according to the National Cholesterol Education Program's Adult Treatment Panel III (ATP III) criteria. In children, we calculated a continuous sex- and age-standardized metabolic risk score using variables corresponding to adult ATP III criteria. Metabolic syndrome prevalence in adults and risk score distribution in children were compared across levels of sociodemographic characteristics with use of Poisson and linear regression, respectively. Capital cities of Guatemala, El Salvador, the Dominican Republic, Honduras, Nicaragua, Panama, Costa Rica, the Mexican State of Chiapas (Tuxtla Gutiérrez city) and Belize. Families (n 267), comprising one child aged 7-12 years and their biological parents. The prevalence of metabolic syndrome was 37·9 % among women and 35·3 % among men. The most common component was low HDL cholesterol, 83·3 % in women and 78·9 % in men. Prevalence was positively associated with age. In women, metabolic syndrome was inversely related to education level whereas in men it was positively associated with household food security and height, after adjustment. The metabolic risk score in children was inversely related to parental height, and positively associated with height-for-age and with having parents with the metabolic syndrome. Metabolic syndrome is highly prevalent in Mesoamerica. The burden of metabolic risk factors disproportionately affects women and children of lower socio-economic status and men of higher socio-economic status.

  11. Premature thelarche: a follow up study of 40 girls. Natural history and endocrine findings.

    Science.gov (United States)

    Pasquino, A M; Tebaldi, L; Cioschi, L; Cives, C; Finocchi, G; Maciocci, M; Mancuso, G; Boscherini, B

    1985-01-01

    Follow up of 40 girls with premature thelarche showed that where this disorder occurred before age 2 years it usually regressed completely, thus representing a transient and isolated phenomenon. Premature thelarche after age 2 years persisted more frequently, however, and represented the first sign of sexual development, generally leading to simple early puberty. PMID:4091585

  12. 早期蛋白质对不同胎龄早产儿营养评估价值的研究进展%Research Progress of Early Protein’s Nutritional Assessment Value to Premature Infants of Different Gestational Ages

    Institute of Scientific and Technical Information of China (English)

    薛军(综述)

    2014-01-01

    Organs of the premature infants develop immaturely, and infants are usualy pre-delivered because of the changes of intrauterine condition, so complications such as feeding difficulties often appear after birth; protein deficiency and lipid metabolism disorder may easily come along. So the early nutritional status not only decides the survival of the premature infants but also has lasting effects on their future living quality. According to the research findings, the shorter the gestational age of a premature infant is, the lower his ALB, PAB and TP wil be. PAB is the most sensitive index to evaluate the maturity and nutritional status of premature infants so far. Therefore, monitoring the SP level of premature infants has great guiding significance to the clinical reasonable nutritional treatment and disease prevention.%早产儿各脏器发育不成熟,且多因宫内生存条件变化而致早产,生后常有喂养困难等合并症,易发生蛋白质缺乏及血脂代谢紊乱,其早期的营养状况不但决定早产儿存活与否,而且对早产儿远期生活质量也有持久的影响。研究发现,早产儿胎龄越小,白蛋白、前白蛋白、总蛋白水平越低,前白蛋白是目前评价早产儿成熟度及营养状况最敏感的指标。监测早产儿血清蛋白水平变化,对临床合理营养支持治疗及预防疾病具有指导意义。

  13. Hutchinson-Gilford Progeria Syndrome: A Rare Genetic Disorder

    Science.gov (United States)

    Panigrahi, Rajat G.; Panigrahi, Antarmayee; Vijayakumar, Poornima; Choudhury, Priyadarshini; Bhuyan, Sanat K.; Bhuyan, Ruchi; Maragathavalli, G.; Pati, Abhishek Ranjan

    2013-01-01

    Hutchinson-Gilford progeria syndrome (HGPS) is a rare pediatric genetic syndrome with incidence of one per eight million live births. The disorder is characterised by premature aging, generally leading to death at approximately 13.4 years of age. This is a follow-up study of a 9-year-old male with clinical and radiographic features highly suggestive of HGPS and presented here with description of differential diagnosis and dental consideration. This is the first case report of HGPS which showed pectus carinatum structure of chest. PMID:24288630

  14. Hutchinson-Gilford Progeria Syndrome: A Rare Genetic Disorder

    Directory of Open Access Journals (Sweden)

    Rajat G. Panigrahi

    2013-01-01

    Full Text Available Hutchinson-Gilford progeria syndrome (HGPS is a rare pediatric genetic syndrome with incidence of one per eight million live births. The disorder is characterised by premature aging, generally leading to death at approximately 13.4 years of age. This is a follow-up study of a 9-year-old male with clinical and radiographic features highly suggestive of HGPS and presented here with description of differential diagnosis and dental consideration. This is the first case report of HGPS which showed pectus carinatum structure of chest.

  15. Estimation of vessel age and early diagnose of atherosclerosis in progeria syndrome by using echo-tracking.

    Science.gov (United States)

    Várady, E; Feher, E; Levai, A; Battyany, I

    2010-01-01

    The stiffness of the arteries normally increases with age. Radiofrequency echo-tracking is a non-invasive ultrasound method which is able to detect the stiffness of the arteries, represented by the beta stiffness index. The estimation of biological age of vessels is possible on the basis of the normal age-group specific beta stiffness values. The beta stiffness index becomes higher in early stages of atherosclerosis as well, before any visible morphological changes. Hutchinson-Gilford progeria syndrome (HGPS) is rare genetic disorder resulting in accelerated aging including appearance of progressive atherosclerosis at an early age which determines the quality and term of life of these patients. Determination of vascular age and early diagnosis of atherosclerosis seems crucial. According to our knowledge, the estimation of vascular age detected with radiofrequency echo-tracking in HGPS patients, in contrast to the normal age-specific beta stiffness values, has not been published yet.

  16. Dynamics of hormonal status in women of different age groups in hemorrhagic fever with renal syndrome

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    Murzabaeva R.Т.

    2012-06-01

    Full Text Available Objective: To study the hormonal parameters in women of different age groups in hemorrhagic fever with renal syndrome. Materials and methods: We have studied the content of cortisol, thyrotropic hormone (TTH, triiodothyro-nine (T3, free thyroxin (FT4, luteinizing hormone (LH, follicle-stimulating hormone (FSH, testosterone, estradiol, progesterone, prolactin in blood serum of 62 women with moderate (33 and severe (29 HFRS forms age (17-62. They were divided into 2 groups: the first group (33 patients women with the normal menstrual cycle, the second group (29 women consisted of patients in climacteric period. Results: TTH secretion increase, T3 and FT4 — decrease with their normalization to the recovery period were registered in the thyroid system of the compared groups. Blood cortisol level was high during the illness. Gonadotropic hypophysis function study demonstrated that LH and blood prolactin concentrations were increased since oliguria period; FSH was authentic reduced. The indices of these hormones were restored to the normal level by the reconvalescence period. LH and FSH contents were authentic higher in women of the second group in comparison with the first group. The hyperprolactinemia was observed in both women groups during the whole period of disease. The increased progesterone and testosterone concentrations have been manifested in blood serum. The estradiol concentration had different direction tendencies. Conclusion: Thus, the complex study of hypophysic- thyreoid and gonadotropic hormone state of adrenal system and the sexual hormone levels in women of different age groups in HFRS revealed the hormone status indces changes due to the period and severity of the disease, connected with the virus action, intoxication, the general inflammation reactions and their age.

  17. Spectrum of Aortic Valve Abnormalities Associated with Aortic Dilation Across Age Groups in Turner Syndrome

    Science.gov (United States)

    Olivieri, Laura J.; Baba, Ridhwan Y.; Arai, Andrew E.; Bandettini, W. Patricia; Rosing, Douglas R.; Bakalov, Vladimir; Sachdev, Vandana; Bondy, Carolyn A.

    2014-01-01

    Background Congenital aortic valve fusion is associated with aortic dilation, aneurysm and rupture in girls and women with Turner syndrome (TS). Our objective was to characterize aortic valve structure in subjects with TS, and determine the prevalence of aortic dilation and valve dysfunction associated with different types of aortic valves. Methods and Results The aortic valve and thoracic aorta were characterized by cardiovascular magnetic resonance imaging in 208 subjects with TS in an IRB-approved natural history study. Echocardiography was used to measure peak velocities across the aortic valve, and the degree of aortic regurgitation. Four distinct valve morphologies were identified: tricuspid aortic valve (TAV) 64%(n=133), partially fused aortic valve (PF) 12%(n=25), bicuspid aortic valve (BAV) 23%(n=47), and unicuspid aortic valve (UAV) 1%(n=3). Age and body surface area (BSA) were similar in the 4 valve morphology groups. There was a significant trend, independent of age, towards larger BSA-indexed ascending aortic diameters (AADi) with increasing valve fusion. AADi were (mean +/− SD) 16.9 +/− 3.3 mm/m2, 18.3 +/− 3.3 mm/m2, and 19.8 +/− 3.9 mm/m2 (p<0.0001) for TAV, PF and BAV+UAV respectively. PF, BAV, and UAV were significantly associated with mild aortic regurgitation and elevated peak velocities across the aortic valve. Conclusions Aortic valve abnormalities in TS occur with a spectrum of severity, and are associated with aortic root dilation across age groups. Partial fusion of the aortic valve, traditionally regarded as an acquired valve problem, had an equal age distribution and was associated with an increased AADi. PMID:24084490

  18. Associations of menstrual cycle irregularities with age, obesity and phenotype in patients with polycystic ovary syndrome.

    Science.gov (United States)

    Panidis, Dimitrios; Tziomalos, Konstantinos; Papadakis, Efstathios; Chatzis, Panagiotis; Kandaraki, Eleni A; Tsourdi, Elena A; Macut, Djuro; Bjekic-Macut, Jelica; Marthopoulos, Apostolos; Katsikis, Ilias

    2015-01-01

    Limited data suggest that menstrual cycle abnormalities are more pronounced in younger and more obese patients with polycystic ovary syndrome (PCOS). We aimed to evaluate the association between menstrual cycle pattern and age, obesity and PCOS phenotype in a large population of women with PCOS. We studied 1,297 women with PCOS and divided them according to: a) age in ≤ 20, 21-30 and > 30 years old, b) body mass index in normal weight, overweight and obese and c) PCOS phenotype in phenotype 1 (anovulation, hyperandrogenemia and polycystic ovaries), 2 (anovulation and hyperandrogenemia without polycystic ovaries), 3 (hyperandrogenemia and polycystic ovaries without anovulation) and 4 (anovulation and polycystic ovaries without hyperandrogenemia). The proportion of women with regular menstrual cycles progressively increased in the older age groups, being 8.1, 10.5 and 12.7% in women ≤ 20, 21-30 and > 30 years old, respectively (p = 0.037). The proportion of women with regular menstrual cycles did not differ between normal weight and obese women but was higher in overweight women (9.3, 9.4 and 13%, respectively; p = 0.020). The proportion of women with regular cycles alternating with irregular cycles was highest in women with phenotype 4, intermediate in women with phenotype 2 and lowest in women with phenotype 1 (74.3, 69.4 and 61.7%, respectively; p = 0.027). Menstrual cycle pattern is more irregular in women with the "classic" PCOS phenotypes than in phenotype 4 but appears to normalize with ageing. On the other hand, obesity does not appear to have an important effect on menstrual cycle pattern in PCOS.

  19. Relationship between dental caries and metabolic syndrome among 13 998 middle-aged urban Chinese.

    Science.gov (United States)

    Cao, Xia; Wang, Dongliang; Zhou, Jiansong; Yuan, Hong; Chen, Zhiheng

    2017-04-01

    The association between dental caries and metabolic syndrome (MetS) is inconsistent. The aim of the present study was to assess the relationship between dental caries and MetS and its components in a middle-aged Chinese population. A cross-sectional analysis was performed of 13 998 participants aged 45-65 years undergoing a health check during 2013-14. An index variable of decayed, missing, and filled teeth (DMFT) was calculated. Logistic regression was used to estimate odds ratios (ORs) and 95 % confidence intervals (CIs) after adjustment for sex, age, education level, dietary habits, alcohol use, smoking, physical activity, and periodontitis. Of the 13 998 participants, 6164 had dental caries and 7834 did not; 3571 had MetS, whereas 10 427 did not. Participants with severe caries showed a higher prevalence of MetS, abdominal obesity, elevated blood pressure, dyslipidemia, and hyperglycemia than those with mild or no caries (all P dental caries and those with two or more DMFT were 1.12 (95 % CI 1.14-1.74) and 1.09 (95 % CI, 0.89-1.21), respectively (P trend  caries were associated with MetS among subjects with hyperglycemia (OR 1.14 [95%CI, 0.98-1.34]; P caries and abdominal obesity, hypertriglyceridemia, low high-density lipoprotein cholesterol, and elevated blood pressure (adjusted ORs [95 % CIs] 0.98 [0.82-1.16], 1.01 [0.85-1.19], 0.84 [0.70-1.00], and 0.96 [0.86-1.13], respectively; all P > 0.05). Dental caries were associated with MetS among middle-aged Chinese in the present study. © 2016 Ruijin Hospital, Shanghai Jiaotong University School of Medicine and John Wiley & Sons Australia, Ltd.

  20. Premature atherosclerosis: Sounds familial?

    NARCIS (Netherlands)

    Mulders, T.A.

    2013-01-01

    The prevention of cardiovascular disease is an important challenge in current medical practice. Despite higher event rates and cardiovascular burden in individuals at a more advanced age, it represents a greater challenge in individuals who develop cardiovascular disease at a very young age. In

  1. [Clinical psychophysiological markers of maladaptive neuropsychic conditions in polyclinic doctors of old and middle age with professional burnout syndrome].

    Science.gov (United States)

    Parfenov, Iu A

    2012-01-01

    The article presents the actual in modern medicine problem of professional burnout of polyclinic doctors of middle and elderly age. It is shown that the specificity of the polyclinic doctors' activity provokes the formation of professional burnout syndrome, paired with maladaptive neuro-psychic conditions. We studied the prevalence of this syndrome in polyclinic doctors of middle age and older; its specific versions among the middle-aged doctors were defined, where the level of burnout is associated with aggressive tendencies, and the elderly doctors, where professional burnout is associated with the instability of affective response. Pathogenic markers of compensatory redistribution of information saturation of indicators of electroencephalography to the occipital cortex at professional burnout in polyclinic doctors of the elderly age, reflecting the involution processes in prefrontal areas of the cerebral cortex of the brain were identified.

  2. Preterm labor and premature birth: Are you at risk?

    Science.gov (United States)

    ... labor and premature birth: Are you at risk? Preterm labor and premature birth: Are you at risk? ... for preterm labor and premature birth. What are preterm labor and premature birth? Preterm and premature mean ...

  3. Video Analysis of Sensory-Motor Features in Infants with Fragile X Syndrome at 9-12 Months of Age

    Science.gov (United States)

    Baranek, Grace T.; Danko, Cassandra D.; Skinner, Martie L.; Donald B., Jr.; Hatton, Deborah D.; Roberts, Jane E.; Mirrett, Penny L.

    2005-01-01

    This study utilized retrospective video analysis to distinguish sensory-motor patterns in infants with fragile X syndrome (FXS) (n=11) from other infants [i.e., autism (n=11), other developmental delay (n=10), typical (n=11)] at 9-12 months of age. Measures of development, autistic features, and FMRP were assessed at the time of entry into the…

  4. Comparison of Conditioning Impairments in Children with Down Syndrome, Autistic Spectrum Disorders and Mental Age-Matched Controls

    Science.gov (United States)

    Reed, P.; Staytom, L.; Stott, S.; Truzoli, R.

    2011-01-01

    Background: This study investigated the relative ease of learning across four tasks suggested by an adaptation of Thomas's hierarchy of learning in children with Down syndrome, autism spectrum disorders and mental age-matched controls. Methods: Learning trials were carried out to investigate observational learning, instrumental learning, reversal…

  5. Predicting School Readiness from Neurodevelopmental Assessments at Age 2 Years after Respiratory Distress Syndrome in Infants Born Preterm

    Science.gov (United States)

    Patrianakos-Hoobler, Athena I.; Msall, Michael E.; Huo, Dezheng; Marks, Jeremy D.; Plesha-Troyke, Susan; Schreiber, Michael D.

    2010-01-01

    Aim: To determine whether neurodevelopmental outcomes at the age of 2 years accurately predict school readiness in children who survived respiratory distress syndrome after preterm birth. Method: Our cohort included 121 preterm infants who received surfactant and ventilation and were enrolled in a randomized controlled study of inhaled nitric…

  6. Association between the glomerular filtration rate of renal dysfunction and metabolic syndrome: an age-stratified analysis

    Institute of Scientific and Technical Information of China (English)

    宋慧

    2014-01-01

    Objective To explore the relationship between the renal dysfunction rate and metabolic syndrome(MS),stratified by age.Methods People took part in physical check-up in a certain tertiary hospital from March 2010to September 2012,were enrolled in this study.Estimated glomerular filtration rate(e GFR),—a renal dysfunction indicator,was calculated by modified MDRD

  7. Degree of dependence on the ventilator according to sleep states in artificially ventilated premature infants.

    Science.gov (United States)

    Curzi-Dascalova, L; Relier, J P; Peirano, P; Castex, M; Vasseur, O

    1986-07-01

    Polygraphic recordings were performed in 14 sleeping premature infants receiving ventilation for respiratory distress syndrome. All were clinically stabilized, with normal EEG and neurologic status and differentiated sleep states (coded according to EEG and REM criteria). They all had two respiratory patterns: passive, completely dependent on the ventilator, and active, with autonomous respiratory movements and/or inspiratory diaphragmatic activity added to passive respiration. We found that in infants ventilated at the rate of 18-54/min, respiration was more active and autonomous in active REM sleep and more passive and dependent on the machine in quiet NREM sleep (P less than 0.005). Within the limits of the values observed in our study, differences between sleep states were not due to other factors that could possibly interfere with and modify the degree of respiratory autonomy. We found no significant correlation between the percentage of time passed with active respiration on one hand and age (gestational, postnatal, conceptional) or diagnostic or physical parameters of artificial ventilation and blood gas levels on the other hand. Our results suggest that in artificially ventilated but neurologically normal premature infants, differences between respiratory control in both sleep states exist as early as 28 weeks conceptional age (lower limit of our study).

  8. FRASER SYNDROME IN A FEMALE BABY AGED 2MONTHS - A CASE REPORT

    Directory of Open Access Journals (Sweden)

    Sanjoy Chatterjee

    2014-08-01

    Full Text Available Fraser Syndrome is an autosomal recessive congenital disorder first described by Canadian geneticist C.R. Fraser in the year 1962. The incidence of Fraser Syndrome is 0.043 per 10,000 live born infants and 1.1 in 10,000 still births making it a rare syndrome

  9. An immunological insight into premature ovarian failure (POF).

    Science.gov (United States)

    Dragojević-Dikić, Svetlana; Marisavljević, Dragomir; Mitrović, Ana; Dikić, Srdjan; Jovanović, Tomislav; Janković-Raznatović, Svetlana

    2010-09-01

    Premature ovarian failure (POF), a serious life-changing condition that affects young women, remains an enigma and the researchers' challenge. The term POF generally describes a syndrome of gonadal failure before the age of 40, characterized by amenorrhea, sex steroid deficiency and elevated levels of gonadotropins. Infertility and psychological stress are common consequences of this entity the prevalence of which is 0.9-3%. The known cause of this condition includes: genetic aberrations, autoimmune ovarian damage, iatrogenic and environmental factors, although in majority of cases the underlying cause is not identified. For many women in whom the cause of ovarian failure is unknown, autoimmunity may be the pathogenic mechanism. There is currently evidence that some cases of POF are due to faulty recognition of self in the ovary by the immune system, possibly provoked by genetic or environmental factors initiating such immune response. Numerous evidence, including association with multiple autoimmune endocrine disorders, clinical reversibility, transitory estrogen deficiency, histological and immunological features and the demonstration of circulating ovarian antibodies in serum samples from women with POF, have suggested its immunological origin. We discuss the possible role of such an autoimmune process as a cause or consequence of POF including treatment strategies in POF patients.

  10. Age-related differences in inhibitory control and memory updating in boys with Asperger syndrome.

    Science.gov (United States)

    Weiss, Elisabeth M; Gschaidbauer, Bianca; Kaufmann, Liane; Fink, Andreas; Schulter, Günter; Mittenecker, Erich; Papousek, Ilona

    2016-12-26

    Deficits in specific executive domains are highly prevalent in autism spectrum disorder; however, age-related improvements in executive functions (reflecting prefrontal maturational changes) have been reported even in individuals diagnosed with autism. The current study examined two components of cognitive flexibility (inhibition of prepotent responses and memory monitoring/updating) by using a random-motor-generation task (MPT) in a group of 23 boys with Asperger syndrome (AS) and 23 matched healthy controls. We found poorer inhibition and more repetitive responses in younger AS children solely, but comparable memory monitoring/updating skills across groups. Overall, our findings correspond well with previous studies and reveal that even in AS specific EFs may improve with age and, thus, call for a more differentiated view of executive (dys) function profiles in children diagnosed with AS. Tests such as the random-motor-generation task may help to disentangle more specific processes of executive deficits in autism spectrum disorder as compared to the more classical tests.

  11. Small for Gestational Age and Magnesium: Intrauterine magnesium deficiency may induce metabolic syndrome in later life

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    Junji Takaya

    2015-12-01

    Full Text Available Magnesium deficiency during pregnancy as a result of insufficient or low intake of magnesium is common in developing and developed countries. Previous reports have shown that intracellular magnesium of cord blood platelets is lower among small for gestational age (SGA groups than that of appropriate for gestational age (AGA groups, suggesting that intrauterine magnesium deficiency may result in SGA. Additionally, the risk of adult-onset diseases such as insulin resistance syndrome is greater among children whose mothers were malnourished during pregnancy, and who consequently had a low birth weight. In a number of animal models, poor nutrition during pregnancy leads to offspring that exhibit pathophysiological changes similar to human diseases. The offspring of pregnant rats fed a magensium restricted diet have developed hypermethylation in the hepatic 11β-hydroxysteroid dehydrogenase-2 promoter. These findings indicate that maternal magnesium deficiencies during pregnancy influence regulation of non-imprinted genes by altering the epigenetic regulation of gene expression, thereby inducing different metabolic phenotypes. Magnesium deficiency during pregnancy may be responsible for not only maternal and fetal nutritional problems, but also lifelong consequences that affect the offspring throughout their life. Epidemiological, clinical, and basic research on the effects of magnesium deficiency now indicates underlying mechanisms, especially epigenetic processes.

  12. Polycystic Ovary Syndrome: Important Underrecognised Cardiometabolic Risk Factor in Reproductive-Age Women

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    Dinka Pavicic Baldani

    2015-01-01

    Full Text Available Polycystic ovary syndrome (PCOS is the most common endocrine disorder amongst women of reproductive age. Although PCOS is diagnosed exclusively based on reproductive criteria, it is also a metabolic disorder. Insulin resistance, impaired glucose tolerance, type 2 diabetes mellitus, obesity, and dyslipidemia are more common in women with PCOS than in age-comparable women without PCOS. Many of the metabolic abnormalities that manifest in PCOS are worsened by the concurrent incidence of obesity. However, some of these metabolic perturbations occur even in lean women with PCOS and therefore are rightfully recognized as intrinsic to PCOS. The intrinsic factors that produce these metabolic disturbances are reviewed in this paper. The consequences of obesity and the other metabolic aberrations are also discussed. The metabolic perturbations in PCOS patients lead to chronic low-grade inflammation and to cardiovascular impairments that heighten the risk of having cardiovascular disease. Even though many studies have shown an elevation in surrogate biomarkers of cardiovascular disease in PCOS women, it is still not clear to what extent and magnitude the elevation precipitates more frequent and earlier events.

  13. Association between history of abortion and metabolic syndrome in middle-aged and elderly Chinese women.

    Science.gov (United States)

    Xu, Baihui; Zhang, Jie; Xu, Yu; Lu, Jieli; Xu, Min; Chen, Yuhong; Bi, Yufang; Ning, Guang

    2013-03-01

    Epidemiologic studies have suggested that abortion may cause long term health consequences such as cardiovascular disease. Until recently, studies focusing on the association between history of abortion and metabolic diseases were limited. In the present study, we aimed to investigate the association between history of abortion and metabolic syndrome (MetS) in middle-aged and elderly Chinese women. A cross-sectional survey was performed in 6302 women (age ≥ 40 years) in Shanghai. Standardized questionnaire was used to obtain the information about reproductive histories. Overall, we observed a positive association between history of induced abortion and the prevalence of MetS, independent of potential confounding factors. A multivariable-adjusted logistic regression analysis revealed that compared to those without a history of induced abortion, women with a history of induced abortion remained at 1.25 times more likely to have MetS (OR = 1.25, 95% CI = 1.06-1.47, P abortion and the prevalence of MetS was observed. Compared to those without a history of spontaneous abortion, the multivariate-adjusted odds ratio associated with a history of spontaneous abortion for MetS was 0.88 (95% CI = 0.65-1.19, P > 0.05).

  14. Epigenetic Regulation of Werner Syndrome Gene in Age-Related Cataract

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    Xi Zhu

    2015-01-01

    Full Text Available Purpose. To examine the promoter methylation and histone modification of WRN (Werner syndrome gene, a DNA repair gene, and their relationship with the gene expression in age-related cataract (ARC lens. Methods. We collected the lenses after cataract surgery from 117ARC patients and 39 age-matched non-ARC. WRN expression, DNA methylation and histone modification around the CpG island were assessed. The methylation status of Human-lens-epithelium cell (HLEB-3 was chemically altered to observe the relationship between methylation and expression of WRN. Results. The WRN expression was significantly decreased in the ARC anterior lens capsules comparing with the control. The CpG island of WRN promoter in the ARC anterior lens capsules displayed hypermethylation comparing with the controls. The WRN promoter was almost fully methylated in the cortex of ARC and control lens. Acetylated H3 was lower while methylated H3-K9 was higher in ARC anterior lens capsules than that of the controls. The expression of WRN in HLEB-3 increased after demethylation of the cells. Conclusions. A hypermethylation in WRN promoter and altered histone modification in anterior lens capsules might contribute to the ARC mechanism. The data suggest an association of altered DNA repair capability in lens with ARC pathogenesis.

  15. Women With Polycystic Ovary Syndrome Have Comparable Hip Bone Geometry to Age-Matched Control Women.

    Science.gov (United States)

    McBreairty, Laura E; Zello, Gordon A; Gordon, Julianne J; Serrao, Shani B; Pierson, Roger A; Chizen, Donna R; Chilibeck, Philip D

    2016-12-26

    Polycystic ovary syndrome (PCOS) is an endocrine disorder affecting women of reproductive age manifesting with polycystic ovaries, menstrual irregularities, hyperandrogenism, hirsutism, and insulin resistance. The oligomenorrhea and amenorrhea characteristic to PCOS are associated with low bone mineral density (BMD); conversely, the hyperandrogenism and hyperinsulinemia may elicit a protective effect on BMD. As bone geometric properties provide additional information about bone strength, the objective of this study was to compare measures of hip geometry in women with PCOS to a healthy female population. Using dual-energy X-ray absorptiometry, BMD and measures of hip geometry were determined in women with PCOS (n = 60) and healthy controls (n = 60) aged 18-35 years. Clinical biochemical measures were also determined in women with PCOS. Measures of hip geometry, including cross-sectional area, cross-sectional moment of inertia, subperiosteal width (SPW), and section modulus, were similar between groups following correction for body mass index (BMI) (all p > 0.05) with intertrochanter SPW significantly lower in women with PCOS (p geometry in women with PCOS. Copyright © 2016 International Society for Clinical Densitometry. Published by Elsevier Inc. All rights reserved.

  16. Hormonal Modulation in Aging Patients with Erectile Dysfunction and Metabolic Syndrome

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    Inês Campos Costa

    2013-01-01

    Full Text Available Erectile dysfunction (ED, metabolic syndrome (MetS, and hypogonadism are closely related, often coexisting in the aging male. Obesity was shown to raise the risk of ED and hypogonadism, as well as other endocrinological disturbances with impact on erectile function. We selected 179 patients referred for ED to our andrology unit, aiming to evaluate gonadotropins and estradiol interplay in context of ED, MetS, and hypogonadism. Patients were stratified into groups in accordance with the presence (or not of MetS and/or hypogonadism. Noticeable differences in total testosterone (TT and free testosterone (FT levels were found between patients with and without MetS. Men with MetS evidenced lower TT circulating levels with an increasing number of MetS parameters, for which hypertriglyceridemia and waist circumference strongly contributed. Regarding the hypothalamic-pituitary-gonadal axis, patients with hypogonadism did not exhibit raised LH levels. Interestingly, among those with higher LH levels, estradiol values were also increased. Possible explanations for this unexpected profile of estradiol may be the age-related adiposity, other estrogen-raising pathways, or even unknown mechanisms. Estradiol is possibly a molecule with further interactions beyond the currently described. Our results further enlighten this still unclear multidisciplinary and complex subject, raising new investigational opportunities.

  17. Polycystic Ovary Syndrome: Important Underrecognised Cardiometabolic Risk Factor in Reproductive-Age Women

    Science.gov (United States)

    Baldani, Dinka Pavicic; Skrgatic, Lana; Ougouag, Roya

    2015-01-01

    Polycystic ovary syndrome (PCOS) is the most common endocrine disorder amongst women of reproductive age. Although PCOS is diagnosed exclusively based on reproductive criteria, it is also a metabolic disorder. Insulin resistance, impaired glucose tolerance, type 2 diabetes mellitus, obesity, and dyslipidemia are more common in women with PCOS than in age-comparable women without PCOS. Many of the metabolic abnormalities that manifest in PCOS are worsened by the concurrent incidence of obesity. However, some of these metabolic perturbations occur even in lean women with PCOS and therefore are rightfully recognized as intrinsic to PCOS. The intrinsic factors that produce these metabolic disturbances are reviewed in this paper. The consequences of obesity and the other metabolic aberrations are also discussed. The metabolic perturbations in PCOS patients lead to chronic low-grade inflammation and to cardiovascular impairments that heighten the risk of having cardiovascular disease. Even though many studies have shown an elevation in surrogate biomarkers of cardiovascular disease in PCOS women, it is still not clear to what extent and magnitude the elevation precipitates more frequent and earlier events. PMID:26124830

  18. IQ in Childhood and the Metabolic Syndrome in Middle Age: Extended Follow-Up of the 1946 British Birth Cohort Study

    Science.gov (United States)

    Richards, Marcus; Black, Stephanie; Mishra, Gita; Gale, Catharine R.; Deary, Ian J.; Batty, David G.

    2009-01-01

    IQ in early adulthood has been inversely associated with risk of the metabolic syndrome in midlife. We tested this association in the British 1946 birth cohort, which assessed IQ at age eight years and ascertained the metabolic syndrome at age 53 years based on modified (non-fasting blood) ATPIII criteria. Childhood IQ was inversely associated…

  19. Sexual dysfunction in Klinefelter's syndrome patients.

    Science.gov (United States)

    El Bardisi, H; Majzoub, A; Al Said, S; Alnawasra, H; Dabbous, Z; Arafa, M

    2016-09-23

    Klinefelter's syndrome (KS) is the most common chromosomal abnormality in men with infertility and hypogonadism. Although its influence on fertility has been extensively investigated, very few studies assessed the sexual function of patients with KS. Our aim was to assess the prevalence of sexual dysfunction in patients with KS and investigate possible aetiological factors for reported findings. Medical records of 53 patients with KS were retrospectively reviewed and compared to 75 age-matched control subjects who were prospectively recruited. Sexual history was evaluated through utilisation of international index of erectile function-5 and Arabic index for premature ejaculation questionnaires. Sexual desire was reported subjectively by patients or controls. The incidence of erectile dysfunction and premature ejaculation in patients with KS was 18.9% and 22.6% respectively. Compared to age-matched controls, patients with KS had significantly lower incidence of PE. However, there was no statistically significant difference between both groups regarding erectile function. Libido was significantly lower in patients with KS than normal controls (54.7% vs. 17.3%, p = 0.001). Klinefelter's syndrome is a condition that has a variable presentation. Despite having a higher likelihood of reduced sexual desire, patients may have normal erectile function comparable to age-matched individuals. They tend to have a lower incidence of premature ejaculation.

  20. Retinopathy of prematurity: results from 10 years in a single neonatal intensive care unit

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    Inês Coutinho

    2017-01-01

    Full Text Available Introduction: Retinopathy of prematurity (ROP is a vasoproliferative disorder of the retina of preterm newborns and is an important and preventable cause of visual impairment in childhood. This study aimed to assess the incidence and main risk factors associated with the development of ROP in the last 10 years at Hospital Prof. Doutor Fernando Fonseca in Lisbon, Portugal.Methods: Observational and retrospective study conducted between 2005 and 2014 at Hospital Prof. Doctor Fernando Fonseca. The study included newborns of gestational age < 32 weeks. We analyzed maternal, prenatal and neonatal factors associated with the development of ROP. Statistical analysis were performed with Statistical Package for Social Sciences (SPSS® software. Univariate and multivariate analyses were performed and a multiple logistic regression model was carried out with a significance level α = 0.05.Results: 527 premature infants with a gestational age < 32 weeks were studied, of which 165 developed ROP. 60 of these patients needed treatment. In the univariate analysis, the risk factors for the development of ROP were maternal infection in pregnancy, low birth weight, low gestational age, low Apgar score at 5 minutes, need for oxygen therapy until the 28th day of life, a high score on the CRIB and SNAPPE2 scales, use of surfactant, respiratory distress syndrome, persistence of patent ductus arteriosus, peri-intraventricular hemorrhage and neonatal sepsis. In the multiple logistic regression analysis, risk factors for ROP were the presence of neonatal sepsis, respiratory distress syndrome, persistence of patent ductus arteriosus and a high score on the neonatal SNAPPE2 scale.Conclusions: We found a ROP incidence rate of 31.3%, with risk factors similar to those observed in other studies.

  1. Soft-tissue mineralization in Werner syndrome

    Energy Technology Data Exchange (ETDEWEB)

    Leone, Antonio; Costantini, Alessandro Maria; Brigida, Raffaela; Antoniol, Onorina Monica; Bonomo, Lorenzo [Universita Cattolica School of Medicine, Department of Radiology, Rome (Italy); Antonelli-Incalzi, Raffaele [Universita Cattolica School of Medicine, Department of Geriatrics, Rome (Italy)

    2005-01-01

    Werner syndrome is a rare autosomal recessive disorder characterized by clinical signs of premature aging, short stature, scleroderma-like skin changes, endocrine abnormalities, cataracts, and an increased incidence of malignancies. We report on a 48-year-old woman with Werner syndrome associated with intracranial meningiomas who had extensive musculoskeletal manifestations including osteoporosis of the extremities, extensive tendinopathy about the ankles, osteomyelitis of the phalanges of the first left toe, abundant soft-tissue calcification, and two dense ossified soft-tissue masses, with cortical bone and trabeculae arising from the posterosuperior aspect of the calcanei and extending into Kager fat pads. A review of previous descriptions of the radiological abnormalities of Werner syndrome indicates that the presence of soft-tissue calcifications has either not been noted or been mentioned only briefly. Moreover, there is no mention of bony masses associated with Werner syndrome in the world literature, and this would appear to be the first report of this kind. (orig.)

  2. Telomere shortening exposes functions for the mouse Werner and Bloom syndrome genes.

    Science.gov (United States)

    Du, Xiaobing; Shen, Johnny; Kugan, Nishan; Furth, Emma E; Lombard, David B; Cheung, Catherine; Pak, Sally; Luo, Guangbin; Pignolo, Robert J; DePinho, Ronald A; Guarente, Leonard; Johnson, F Brad

    2004-10-01

    The Werner and Bloom syndromes are caused by loss-of-function mutations in WRN and BLM, respectively, which encode the RecQ family DNA helicases WRN and BLM, respectively. Persons with Werner syndrome displays premature aging of the skin, vasculature, reproductive system, and bone, and those with Bloom syndrome display more limited features of aging, including premature menopause; both syndromes involve genome instability and increased cancer. The proteins participate in recombinational repair of stalled replication forks or DNA breaks, but the precise functions of the proteins that prevent rapid aging are unknown. Accumulating evidence points to telomeres as targets of WRN and BLM, but the importance in vivo of the proteins in telomere biology has not been tested. We show that Wrn and Blm mutations each accentuate pathology in later-generation mice lacking the telomerase RNA template Terc, including acceleration of phenotypes characteristic of latest-generation Terc mutants. Furthermore, pathology not observed in Terc mutants but similar to that observed in Werner syndrome and Bloom syndrome, such as bone loss, was observed. The pathology was accompanied by enhanced telomere dysfunction, including end-to-end chromosome fusions and greater loss of telomere repeat DNA compared with Terc mutants. These findings indicate that telomere dysfunction may contribute to the pathogenesis of Werner syndrome and Bloom syndrome.

  3. Lifestyle-induced metabolic inflexibility and accelerated ageing syndrome: insulin resistance, friend or foe?

    Directory of Open Access Journals (Sweden)

    Bell Jimmy D

    2009-04-01

    that as oxidative stress determines functional longevity, a rather more descriptive term for the metabolic syndrome is the 'lifestyle-induced metabolic inflexibility and accelerated ageing syndrome'. Ultimately, thriftiness is good for us as long as we have hormetic stimuli; unfortunately, mankind is attempting to remove all hormetic (stressful stimuli from his environment.

  4. Problems with the language development in children with Down syndrome aged 5-7 years

    Directory of Open Access Journals (Sweden)

    Mustaf Morina

    2016-07-01

    Full Text Available This study aims to explore and investigate the linguistic developments regarding children with Down syndrome. The study was conducted by interviewing children with Down syndrome. The study shows many problems with these children associated with difficulties with the reasoning attention, imitation, routines, and language development of children with Down syndrome, such as, speech problem, a problem related to pronunciation, sound or voice. This study uses the (Inductive and Qualitative primary research (deductive method with six case studies of children with Down syndrome, being induced on the Problems and difficulties of children with the Down syndrome in the field of language development.

  5. Negative Association of Domestic Activity and Active Commuting with Metabolic Syndrome in a Chinese Population Aged 35-64 Years

    Institute of Scientific and Technical Information of China (English)

    CHEN Xiao Rong; ZHAO Wen Hua; ZHANG Jian; DING Gang Qiang; DONG Zhong; ZHANG Xin Wei; LI Jian Hong; CHEN Bo; YAN Liu Xia; MI Sheng Quan

    2015-01-01

    Objective To understand the associations of physical activity domains with metabolic syndrome among a middle-aged Chinese population. Methods In all, 3326 professional adults aged 35-64 years from Beijing and Zhejiang province were recruited with a cluster random sampling method. The Global Physical Activity Questionnaire was modified, and the recommended Asia-Pacific cut-offs of waist circumstance were introduced into the criteria for metabolic syndrome from the Adult Treatment Panel III. A binary logistic regression model was applied to examine the association of all physical activity domains with the risk of the syndrome. Results Participants who engaged in domestic activity for ³1176 MET-min/week had a 41.6% less chance of having metabolic syndrome [odds ratio (OR), 0.584;95%confidence interval (CI), 0.480-0.710] than those without this activity. In adjusted models, adults who actively commuted for ³33 MET-min/week but Conclusion This study highlighted the independently negative association of traffic and house activity with the prevalence of the syndrome in this sample with a generally low level of moderate activity.

  6. Age effects on cortical thickness in young Down's syndrome subjects: a cross-sectional gender study

    Energy Technology Data Exchange (ETDEWEB)

    Romano, Andrea; Moraschi, Marta [San Raffaele Foundation Rome, Rehabilitation Facility Ceglie Messapica, Rome (Italy); Cornia, Riccardo; Stella, Giacomo [University of Modena and Reggio Emilia, Department of Education and Human Sciences, Emilia-Romagna (Italy); Bozzao, Alessandro; Gagliardo, Olga [University Sapienza, NESMOS, Department of Neuroradiology, S. Andrea Hospital, Rome (Italy); Chiacchiararelli, Laura [University Sapienza, Department of Medical Physics, S. Andrea Hospital, Rome (Italy); Iani, Cristina [University of Modena and Reggio Emilia, Department of Communication and Economy, Emilia-Romagna (Italy); Albertini, Giorgio [IRCSS San Raffaele Pisana, Department of Paediatrics, Rome (Italy); Pierallini, Alberto [IRCSS San Raffaele Pisana, Department of Radiology, Rome (Italy)

    2015-04-01

    The aim of this study was to determine differences in the characteristic pattern of age-related cortical thinning in men and women with Down's syndrome (DS) by means of MRI and automatic cortical thickness measurements and a cross-sectional design, in a large cohort of young subjects. Eighty-four subjects with DS, 30 females (11-35 years, mean age ± SD = 22.8 ± 5.9) and 54 males (11-35 years, mean age ± SD = 21.5 ± 6.5), were examined using a 1.5-T scanner. MRI-based quantification of cortical thickness was performed using FreeSurfer software package. For all subjects participating in the study, the Pearson product-moment correlation coefficient between age and mean cortical thickness values has been evaluated. A significant negative correlation between cortical thickness and age was found in female DS subjects, predominantly in frontal and parietal lobes, bilaterally. In male DS subjects, a significant negative correlation between cortical thickness and age was found in the right fronto-temporal lobes and cingulate regions. Whole brain mean cortical thickness values were significantly negative correlated with age only in female DS subjects. Females with Down's syndrome showed a strong correlation between cortical thickness and age, already in early age. We suggest that the cognitive impairment due to hormonal deficit in the postmenopausal period could be emphasized by the early structural decline of gray matter in female DS subjects. (orig.)

  7. Comparison of Lower and Upper Extremity Strength of Individuals with Down Syndrome in Terms of Age Groups and Gender

    Directory of Open Access Journals (Sweden)

    Gonca Ince

    2017-08-01

    Full Text Available The purpose of this study was to compare lower and upper extremity strength of individuals with Down syndrome in terms of age and gender. Nineteen females (52.8% and 17 males (47.2% individuals with Down syndrome (Trisomy 21 type who continue special education and rehabilitation centers participated in the study. The average age of participants was 21.25±6.25 years, average height: 152.18±8.01cm, body weight average: 65.60±18.28kg. There was no statistically significant difference between lower and upper extremity results of Down's syndrome patients (p <0.05. In terms of gender, (Female: 15.8±5.6, male: 11.9 ± 4.8, p=0.03 it were found to be statistically better than boys in terms of horizontal jump (female: 71.7±20.5, male: 55.12±19.7, p=0.02 and vertical jump. As a result, lower and upper extremity strength in different age groups of individuals was found to be similar. However, it can be said that girls with Down syndrome have better explosive strength than men.

  8. [Management of patients with a history of late abortion or very premature delivery].

    Science.gov (United States)

    Langer, B; Gaudineau, A; Sananes, N; Fritz, G

    2013-02-01

    Patients have a very late abortion or premature delivery in 2-3 % of pregnancies. Management in a subsequent pregnancy should seek an infection, a fetal cause (aneuploidy, malformation syndrome, intrauterine death) or vascular pathology (preeclampsia, IUGR, intrauterine death). In women with a late abortion or very premature childbirth history, several preventive treatments of prematurity are now available. The main cause of prematurity is ascending infection from the vagina. Cerclage or pessary is designed to better isolate the uterine cavity. Their effectiveness has been validated in patients for whom the repeated measurement of cervical length by transvaginal ultrasound shows a cervical length prematurity. Finally, the routine administration of intramuscular or vaginal progesterone at the beginning of the 2(nd) quarter also proved effective in several randomized studies.

  9. Family members and health professionals' perspectives on future life planning of ageing people with Down syndrome: a qualitative study.

    Science.gov (United States)

    Covelli, Venusia; Raggi, Alberto; Paganelli, Chiara; Leonardi, Matilde

    2017-08-08

    To address the way in which primary caregivers of people over 45 with Down syndrome describe daily life activities and context and foresee their future. Thirteen family members and 15 health professionals participated to four focus groups. Meaningful concepts were identified and linked to the International Classification of Functioning, Disability and Health using established linking rules. A total of 258 relevant concepts were identified and linked to 75 categories of the classification: 38 were from activity and participation and 17 from environmental factors domains. The most commonly reported issues were mental functions (b117-intellectual functions and b152-emotional functions), community life activities (d910-community life and d920-recreation and leisure) and environmental factors (e310-support of immediate family, e355-support from health professionals and e555-associations and organizational services). Information on the daily life and health of ageing people with Down syndrome is important to plan social and health care interventions tailored to deal with problems that they may encounter in older age. Considering the interaction between health and environment and maintaining a continuity of daily routines were reported as the most relevant topics for managing daily lives of persons with Down syndrome in older ages. Implications for rehabilitation Pay more attention to the interaction between environmental factors and health condition in ageing people with Down syndrome. Information about the life contest are important in order to plan present and future social-health care interventions. Future planning for people with Down syndrome is a great concern for family members.

  10. Respiratory Distress Syndrome and its Complications

    OpenAIRE

    2013-01-01

    Respiratory distress syndrome in premature babies is one of the most common and most important health problems in newborns. Respiratory distress syndrome of newborn is a syndrome in premature infants caused by developmental insufficiency of surfactant production and structural immaturity in the lungs. Respiratory distress syndrome begins shortly after birth and is manifest by tachypnea, tachycardia, chest wall retractions, expiratory grunting, nasal flaring and cyanosis during breathing effor...

  11. Cost-effectiveness of early treatment for retinopathy of prematurity.

    Science.gov (United States)

    Kamholz, Karen L; Cole, Cynthia H; Gray, James E; Zupancic, John A F

    2009-01-01

    The Early Treatment for Retinopathy of Prematurity trial demonstrated that peripheral retinal ablation of eyes with high-risk prethreshold retinopathy of prematurity (early treatment) is associated with improved visual outcomes at 9 months' corrected gestational age compared with treatment at threshold disease (conventional management). However, early treatment increased the frequency of laser therapy, anesthesia with intubation, treatment-related systemic complications, and the need for repeat treatments. To determine the cost-effectiveness of an early treatment strategy for retinopathy of prematurity compared with conventional management. We developed a stochastic decision analytic model to assess the incremental cost of early treatment per eye with severe visual impairment prevented. We derived resource-use and efficacy estimates from the Early Treatment for Retinopathy of Prematurity trial's published outcome data. We used a third-party payer perspective. Our primary analysis focused on outcomes from birth through 9 months' corrected gestational age. A secondary analysis used a lifetime horizon. Parameter uncertainty was quantified by using probabilistic and deterministic sensitivity analyses. The incremental cost-effectiveness of early treatment was $14,200 per eye with severe visual impairment prevented. There was a 90% probability that the cost-effectiveness of early treatment would be less than $40,000 per eye with severe visual impairment prevented and a 0.5% probability that early treatment would be cost-saving (less costly and more effective). Limiting early treatment to more severely affected eyes (eyes with "type 1 retinopathy of prematurity" as defined by the Early Treatment for Retinopathy of Prematurity trial) had a cost-effectiveness of $6,200 per eye with severe visual impairment prevented. Analyses that considered long-term costs and outcomes found that early treatment was cost-saving. Early treatment of retinopathy of prematurity is both

  12. Neurosensory outcome of prematurely born children following intracranial hemorrhage

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    Velisavljev-Filipović Gordana

    2011-01-01

    Full Text Available Introduction. More and more survival of newborns with small or extremely small body mass at birth, as well as increasing percent of prematurely born babies, have emphasized the significance of intracranial haemorrhage problem. Prematurely born infants are under increased risk for strabismus, amblyopia, blinding and hearing loss. Objective. Establishing the frequency of sensory damages (damage of sight and hearing in prematurely born infants with various degrees of intracranial haemorrhage. Methods. The study is prospective, controlled and included 120 prematurely born infants with diagnosed four different grade intracranial haemorrhage on ultrasonic examination of the central nervous system. The study excluded prematurely born children from twin pregnancies with congenital malformations and stoppage of intrauterine growth. Ophthalmological examination was done at 9, 12, and 36 months of postnatal age. Audilogical examination was done after delivery, at 2 months of age. Results. There are statistically significant differences (p<0.01 related to the presence of strabismus among groups of examinees with vairious hemorrhage degrees. Strabismus was present only in one premature infant with 1st and in 10 children (33.3% with the 4th degree. Amblyopia occurred only among examinees with 4th degree hemorrhage. There were statistically significant differences (p<0.01 related to the finding of transitory otoacoustic emission of the left ear and the right ear among the groups. The finding of the right ear was not usual in 7 examinees from the 4th degree hemorrhage. The finding of the left ear was not usual in 1 examinee from the third and in 7 examinees from the fourth group. Conclusion. Prematurely born children with a higher degree intracranial hemorrhage have a greater risk for the loss of hearing and development of visual handicap.

  13. Insight on pathogenesis of lifelong premature ejaculation: inverse relationship between lifelong premature ejaculation and obesity.

    Science.gov (United States)

    Gökçe, A; Ekmekcioglu, O

    2010-01-01

    Although both biological and psychological factors are important in the etiology, the exact pathogenesis of lifelong premature ejaculation (PE) remains to be clarified. Obesity is a worldwide epidemic that contributes to many chronic diseases. Obesity is associated with erectile dysfunction, but the relationship between obesity and PE has not yet been specifically investigated. The aim of this study was to evaluate the relationships of these two conditions. Between January 2008 and December 2009, we evaluated consecutive patients with lifelong PE in the urology outpatient clinic. Control cases without lifelong PE were selected randomly among cases attending the department of internal medicine for a checkup procedure. The age and sex of control group were matched with that of the study group. Body mass index (BMI) of each case was calculated using the World Health Organization criteria by the measurements of the physician instead of relying on verbal expressions. The mean (+/-s.d.) age of the premature ejaculators was 31.7+/-5.7 (range 21-51) years and in the control cases it was 32.3+/-6.7 (range 22-54) years. The comparison of the mean (+/-s.d.) weight between the study (74.1+/-11.2 kg) and control groups (81.9+/-6.4 kg) revealed a significant difference (Pobese cases in the control group (n=26, 24.1%) was three times greater than the obese premature ejaculators (Pobesity, and we found that patients with lifelong PE were leaner than the healthy control cases.

  14. Syndromic analysis of ADHD at preschool age according to A.R. Luria concept

    OpenAIRE

    Yulia Solovieva; Luis Quintanar Rojas

    2014-01-01

    Different authors have studied attention-deficit/hyperactivity disorder (ADHD) in preschool children from different perspectives. Neuropsychological assessment can detect many kinds of cognitive difficulties, but the common syndromic picture has not yet been established. The idea of the existence of a specific neuropsychological syndrome based on A.R. Lurias concept differs from syndromes that are established in the Diagnostic and Statistical Manual of Mental Disorders , 4 th edition. The goa...

  15. Respiratory distress syndrome in newborns of gestational age of over 32 weeks.

    Science.gov (United States)

    Rimar, Zeljka; Milas, Vesna; Medimurec, Maja; Mesić, Ivana

    2014-06-01

    Albeit the aetiology of the respiratory distress syndrome (RDS) is well known, the paper shall demonstrate that the causes of RDS changed over the years 2006 and 2010. This retrospective study comprises analysis of the data collected from 60 newborns of over 32 weeks gestation with RDS in the Neonatal Intensive Care Unit at the Clinical Hospital Centre in Osijek. The focus of the paper lies in the difference in the incidence of RDS over two research periods (2006 and 2010), the most common and possible causes of RDS in newborns of over 32 weeks gestation as well as in the potential changes in the aetiology over the two research periods. An increase in the incidence of RDS was established in 2010, but it was statistically significant only for newborns of gestational age of 35 1/7 to 36 6/7 weeks. The most common cause of RDS in both research periods was sepsis, which decreased in its share in 2010, whereas the incidence of asphyxia and complications during pregnancy increased. The new potential cause in 2010 was maternal thrombophilia. The share of unknown causes of RDS decreased, although not significantly so. The results of the research indicate that the causes of RDS changed over the observed periods and that further research should focus on thrombophilia and other complications during pregnancy with the aim of reducing morbidity and improving neonatal outcomes as well as further reducing the incidence of RDS with unknown causes in newborns.

  16. Aging eye microbiota in Dry Eye Syndrome in patients treated with Enterococcus faecium and Saccharomyces boulardii.

    Science.gov (United States)

    Chisari, Giuseppe; Chisari, Eleonora Margherita; Borzì, Antonio Maria; Ozyalcin, Erdogan; Chisari, Clara Grazia

    2017-07-04

    Aging seem to have a key role in the onset and progression of ocular surface diseases. Dry Eye Syndrome (DES) is a multifactorial disease of the tears and ocular surface in which symptoms may interfere with the ability to work and carry out daily functions. This clinical trial was a pilot study to evaluate the effects of supplementation with mixture (MYA796 and Enterococcus faecium SGEf01) on the tear film. Following the run-in period subjects were randomized in two groups: group A (n.30 subjects) and group B (n.30 subjects). Group A (control) treated only with substitute tear and group B treated with substitute tear + mixture (symbiotic). The data obtained in the two study groups A and B were, respectively the following: Schirmer I: 9.2±0.2 Vs 12.8±0.4 (pmicrobiota ocular surface subject with DES. Copyright© Bentham Science Publishers; For any queries, please email at epub@benthamscience.org.

  17. Genotype-phenotype correlations in Cornelia de Lange syndrome: Behavioral characteristics and changes with age.

    Science.gov (United States)

    Moss, Joanna; Penhallow, Jessica; Ansari, Morad; Barton, Stephanie; Bourn, David; FitzPatrick, David R; Goodship, Judith; Hammond, Peter; Roberts, Catherine; Welham, Alice; Oliver, Chris

    2017-06-01

    Cornelia de Lange syndrome (CdLS) is a multisystem genetic disorder associated with unusual facial features, limb abnormalities, a wide range of health conditions, and intellectual disability. Mutations in five genes that encode (SMC1A, SMC3, RAD21) or regulate (NIPBL, HDAC8) the cohesin complex have been identified in up to 70% of individuals. Genetic cause remains unknown for a proportion of individuals. There is substantial heterogeneity in all aspects of CdLS but very little is known about what predicts phenotypic heterogeneity. In this study, we evaluated genotype-phenotype associations in 34 individuals with CdLS. Participants with NIPBL mutations had significantly lower self help skills and were less likely to have verbal skills relative to those who were negative for the NIPBL mutation. No significant differences were identified between the groups in relation to repetitive behavior, mood, interest and pleasure, challenging behavior, activity, impulsivity, and characteristics of autism spectrum disorder whilst controlling differences in self help skills. Significant correlations indicating lower mood, interest and pleasure, and increased insistence on sameness with older age were identified for those who were NIPBL mutation positive. The findings suggest similarities in the behavioral phenotype between those with and without the NIPBL mutation once differences in self help skills are controlled for. However, there may be subtle differences in the developmental trajectory of these behaviors according to genetic mutation status in CdLS. © 2017 Wiley Periodicals, Inc.

  18. Altered regulation of tau phosphorylation in a mouse model of down syndrome aging.

    Science.gov (United States)

    Sheppard, Olivia; Plattner, Florian; Rubin, Anna; Slender, Amy; Linehan, Jacqueline M; Brandner, Sebastian; Tybulewicz, Victor L J; Fisher, Elizabeth M C; Wiseman, Frances K

    2012-04-01

    Down syndrome (DS) results from trisomy of human chromosome 21 (Hsa21) and is associated with an increased risk of Alzheimer's disease (AD). Here, using the unique transchromosomic Tc1 mouse model of DS we investigate the influence of trisomy of Hsa21 on the protein tau, which is hyperphosphorylated in Alzheimer's disease. We show that in old, but not young, Tc1 mice increased phosphorylation of tau occurs at a site suggested to be targeted by the Hsa21 encoded kinase, dual-specificity tyrosine-(Y)-phosphorylation regulated kinase 1A (DYRK1A). We show that DYRK1A is upregulated in young and old Tc1 mice, but that young trisomic mice may be protected from accumulating aberrantly phosphorylated tau. We observe that the key tau kinase, glycogen synthase kinase3-β (GSK-3β) is aberrantly phosphorylated at an inhibitory site in the aged Tc1 brain which may reduce total glycogen synthase kinase3-β activity. It is possible that a similar mechanism may also occur in people with DS.

  19. Implication for treatment: GABAA receptors in aging, Down syndrome and Alzheimer's disease

    Science.gov (United States)

    Rissman, Robert A.; Mobley, William C.

    2011-01-01

    In addition to progressive dementia, Alzheimer's disease (AD) is characterized by increased incidence of seizure activity. Although originally discounted as a secondary process occurring as a result of neurodegeneration, more recent data suggest that alterations in excitatory-inhibitory (E/I) balance occur in AD and may be a primary mechanism contributing AD cognitive decline. In this study, we discuss relevant research and reports on the GABAA receptor in developmental disorders, such as Down syndrome, in healthy aging, and highlight documented aberrations in the GABAergic system in AD. Stressing the importance of understanding the subunit composition of individual GABAA receptors, investigations demonstrate alterations of particular GABAA receptor subunits in AD, but overall sparing of the GABAergic system. In this study, we review experimental data on the GABAergic system in the pathobiology of AD and discuss relevant therapeutic implications. When developing AD therapeutics that modulate GABA it is important to consider how E/I balance impacts AD pathogenesis and the relationship between seizure activity and cognitive decline. PMID:21388375

  20. Implications for treatment: GABAA receptors in aging, Down syndrome and Alzheimer's disease.

    Science.gov (United States)

    Rissman, Robert A; Mobley, William C

    2011-05-01

    In addition to progressive dementia, Alzheimer's disease (AD) is characterized by increased incidence of seizure activity. Although originally discounted as a secondary process occurring as a result of neurodegeneration, more recent data suggest that alterations in excitatory-inhibitory (E/I) balance occur in AD and may be a primary mechanism contributing AD cognitive decline. In this study, we discuss relevant research and reports on the GABA(A) receptor in developmental disorders, such as Down syndrome, in healthy aging, and highlight documented aberrations in the GABAergic system in AD. Stressing the importance of understanding the subunit composition of individual GABA(A) receptors, investigations demonstrate alterations of particular GABA(A) receptor subunits in AD, but overall sparing of the GABAergic system. In this study, we review experimental data on the GABAergic system in the pathobiology of AD and discuss relevant therapeutic implications. When developing AD therapeutics that modulate GABA it is important to consider how E/I balance impacts AD pathogenesis and the relationship between seizure activity and cognitive decline.