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Sample records for progeria syndromes premature

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

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    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.

  2. 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.

  3. Progeria: A rare genetic premature ageing disorder

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    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.

  4. Progeria

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    Mohamed Riyaz S

    2009-01-01

    Full Text Available Hutchinson Gilford Progeria Syndrome (HGPS is a rare, sporadic, autosomal dominant syndrome that involves premature ageing and death at early age due to myocardial infarction or stroke. A 30-year-old male with clinical and radiologic features highly suggestive of HGPS is presented here with description of differential diagnosis, dental considerations and review of literature.

  5. 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.

  6. Hutchinson-Gilford progeria syndrome

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    Agarwal Uma

    2010-01-01

    Full Text Available Progeria is a rare genetic disorder characterized by premature aging, involving the skin, bones, heart, and blood vessels. We report a 4-year-old boy who presented with clinical manifestations of progeria. He had characteristic facies, prominent eyes, scalp and leg veins, senile look, loss of scalp hair, eyebrows and eyelashes, stunted growth, and sclerodermatous changes. The present case is reported due to its rarity.

  7. 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.

  8. Lethal neonatal Hutchinson-Gilford progeria syndrome.

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    Rodríguez, J I; Pérez-Alonso, P; Funes, R; Pérez-Rodríguez, J

    1999-01-29

    We report on a 35-week gestation female fetus with Hutchinson-Gilford progeria (HGP). This patient, who is the first reported with neonatal HGP in the English literature but is the fourth, counting three previous French cases, supports the existence of a more severe prenatal form of progeria. She died 7 hours after birth and presented with intrauterine growth retardation, premature aging, absence of subcutaneous fat, brachydactyly, absent nipples, hypoplastic external genitalia, and abnormal ear lobes. The child's combination of clinical and skeletal manifestations differentiates this form of HGP from other progeroid syndromes with neonatal presentation. We also report previously undescribed autopsy findings including premature loss of hair follicles, premature regression of the renal nephrogenic layer, and premature closure of the growth plates in the distal phalanges that may be related to the aging processes in this condition. We could not find any histological data to support acro-osteolysis, which is the radiographic sign of brachydactyly. The terminal phalanges in HGP seem to be underdeveloped rather than osteolytic.

  9. Hutchinson-Gilford progeria syndrome

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    Zahoor Hussain Daraz

    2017-06-01

    Full Text Available Hutchinson-Gilford progeria syndrome (HGPS is a rare genetic disease in which symptoms of aging are manifested at an early age. In the present report, we describe a 9 months old female child presented with a history of progressive coarsening of skin, failure to thrive and irregular bumps over thighs, buttocks and lower limbs for the last 7½ months. In the course of time, she developed alopecia, hyperpigmented spots over the abdomen with thickening and a typical facial profile of HGPS including micrognathia, absent ear lobules, prominent eyes, loss of eyelashes, eyebrows and a bluish hue over the nose.

  10. Hutchinson-Gilford progeria syndrome: a rare case report

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    Kalegowda Deepadarshan

    2016-04-01

    Full Text Available Progeroid syndromes are characterised by clinical features of physiological aging at an early age. Hutchinson-Gilford progeria syndrome is a type of progeroid syndrome, characterised by abnormal facies, bone abnormalities, sclerodermatous skin changes and retarded physical development. Average life expectancy of progeria patients is 13 years. Herein we are reporting a case of progeria who is 21 years old.

  11. Genetics Home Reference: Hutchinson-Gilford progeria syndrome

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    ... Wilson A. Progeria of stem cells: stem cell exhaustion in Hutchinson-Gilford progeria syndrome. J Gerontol A ... should not be used as a substitute for professional medical care or advice. Users with questions about ...

  12. Hutchinson - Gilford progeria syndrome: A rare case report

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    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.

  13. Immortalization of Werner syndrome and progeria fibroblasts

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    Saito, H.; Moses, R.E. (Baylor College of Medicine, Houston, TX (USA))

    1991-02-01

    Human fibroblast cells from two different progeroid syndromes, Werner syndrome (WS) and progeria, were established as immortalized cell lines by transfection with plasmid DNA containing the SV40 early region. The lineage of each immortalized cell line was confirmed by VNTR analysis. Each of the immortalized cell lines maintained its original phenotype of slow growth. DNA repair ability of these cells was also studied by measuring sensitivity to killing by uv or the DNA-damaging drugs methyl methansulfonate, bleomycin, and cis-dichlorodiamine platinum. The results showed that both WS and progeria cells have normal sensitivity to these agents.

  14. Ocular manifestations in the Hutchinson-Gilford progeria syndrome

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    Shivcharan L Chandravanshi

    2011-01-01

    Full Text Available The Hutchinson-Gilford progeria (HGP syndrome is an extremely rare genetic condition characterized by an appearance of accelerated aging in children. The word progeria is derived from the Greek word progeros meaning ′prematurely old′. It is caused by de novo dominant mutation in the LMNA gene (gene map locus 1q21.2 and characterized by growth retardation and accelerated degenerative changes of the skin, musculoskeletal and cardiovascular systems. The most common ocular manifestations are prominent eyes, loss of eyebrows and eyelashes, and lagophthalmos. In the present case some additional ocular features such as horizontal narrowing of palpebral fissure, superior sulcus deformity, upper lid retraction, upper lid lag in down gaze, poor pupillary dilatation, were noted. In this case report, a 15-year-old Indian boy with some additional ocular manifestations of the HGP syndrome is described.

  15. Hutchinson-Gilford Progeria Syndrome: A Rare Genetic Disorder

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    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.

  16. A prospective study of radiographic manifestations in Hutchinson-Gilford progeria syndrome

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    Cleveland, Robert H. [Harvard Medical School, Pediatric Radiology, Children' s Hospital Boston, Boston, MA (United States); Gordon, Leslie B. [Harvard Medical School, Department of Anesthesia, Children' s Hospital Boston, Boston, MA (United States); Warren Alpert Medical School of Brown University, Department of Pediatrics, Hasbro Children' s Hospital, Providence, RI (United States); Kleinman, Monica E. [Harvard Medical School, Department of Anesthesia, Children' s Hospital Boston, Boston, MA (United States); Miller, David T. [Harvard Medical School, Division of Genetics, Children' s Hospital Boston, Boston, MA (United States); Gordon, Catherine M. [Harvard Medical School, Division of Endocrinology and Adolescent Medicine, Children' s Hospital Boston, Boston, MA (United States); Snyder, Brian D. [Harvard Medical School, Department of Orthopedic Surgery, Children' s Hospital Boston, Boston, MA (United States); Nazarian, Ara [Harvard Medical School, Boston, MA (United States); Giobbie-Hurder, Anita [Dana-Farber Cancer Institute, Department of Biostatistics and Computational Biology, Boston, MA (United States); Neuberg, Donna [Dana-Farber Cancer Institute, Department of Biostatistics and Computational Biology, Boston, MA (United States); Harvard School of Public Health, Department of Biostatistics, Boston, MA (United States); Kieran, Mark W. [Dana-Farber Cancer Institute and Children' s Hospital Boston, Division of Pediatric Oncology, Boston, MA (United States)

    2012-09-15

    Progeria is a rare segmental premature aging disease with significant skeletal abnormalities. Defining the full scope of radiologic abnormalities requires examination of a large proportion of the world's progeria population (estimated at 1 in 4 million). There has been no comprehensive prospective study describing the skeletal abnormalities associated with progeria. To define characteristic radiographic features of this syndrome. Thirty-nine children with classic progeria, ages 2-17 years, from 29 countries were studied at a single site. Comprehensive radiographic imaging studies were performed. Sample included 23 girls and 16 boys - the largest number of patients with progeria evaluated prospectively to date. Eight new and two little known progeria-associated radiologic findings were identified (frequencies of 3-36%). Additionally, 23 commonly reported findings were evaluated. Of these, 2 were not encountered and 21 were present and ranked according to their frequency. Nine abnormalities were associated with increasing patient age (P = 0.02-0.0001). This study considerably expands the radiographic morphological spectrum of progeria. A better understanding of the radiologic abnormalities associated with progeria and improved understanding of the biology of progerin (the molecule responsible for this disease), will improve our ability to treat the spectrum of bony abnormalities. (orig.)

  17. 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.

  18. Progeria

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    Kaur Charandeep

    2000-01-01

    Full Text Available A case of progeria is being reported in a 7-year old boy. He had characteristic facies, short stature, alopecia, high pitched voice, coxa valga and sclerodermatous changes in skin.

  19. Progeria

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    Raval Ranjan

    1992-01-01

    Full Text Available An 8-year-old boy presented with clinical manifestations of progeria. He had senile looks, scanty scalp hair, stunted growth, and wrinkled skin with loss of subcutaneous fat. Sclerodermatous changes were found on both thighs and pelvic region, which was confirmed by histopathology.

  20. Simultaneous Shoulder and Hip Dislocation in a 12-Year-Old Girl with Hutchinson-Gilford Progeria Syndrome

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    Shirin Mardookhpour

    2012-06-01

    Full Text Available Hutchinson-Gilford progeria syndrome (HGPS is a rare premature ageing disorder that is characterized by accelerated degenerative changes of the cutaneous, musculoskeletal and cardiovascular systems. Mean age at diagnosis is 2.9 years and generally leading to death at approximately 13 years of age due to myocardial infarction or stroke. Orthopedic manifestations of HGPS are multiple and shoulder dislocation is a rare skeletal trauma in progeria syndrome. Our patient had simultaneous shoulder and hip dislocation associated with a low energy trauma. This subject has not been reported. Treatment accomplished as close reduction under general anesthesia and immobilization.

  1. Hutchinson-Gilford progeria syndrome: review of the phenotype

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    Hennekam, Raoul C. M.

    2006-01-01

    Hutchinson-Gilford progeria syndrome (HGPS) is a rare but well known entity characterized by extreme short stature, low body weight, early loss of hair, lipodystrophy, scleroderma, decreased joint mobility, osteolysis, and facial features that resemble aged persons. Cardiovascular compromise leads

  2. Progeria: a new kind of Laminopathy-- report of the First European Symposium on Progeria and creation of EURO-Progeria, a European Consortium on Progeria and related disorders

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    Brune, Thomas; Bonne, Gisele; Denecke, Jonas; Elcioglu, Nursel; Hennekam, Raoul C. M.; Marquardt, Thorsten; Ozgen, Heval; Stamsnijder, Marjet; Steichen, Elisabeth; Steinmann, Beat; Wehnert, Manfred; Levy, Nicolas

    2004-01-01

    Progeria is a rare, genetically determined condition characterized by accelerated aging in children. Its name is derived from Greek (Geron) and means "prematurely old". The classic type is the Hutchinson-Gilford Progeria Syndrome (HGPS), which was first described in England in 1886 by Dr. Jonathan

  3. A case of progeria syndrome treated as VIP patient

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    Seema Mahant, Mahant PD, C.M. Reddy

    2014-11-01

    Full Text Available Progeria is rare autosomal recessive genetic disease with an incidence of about one in eight million. He was 16 years old boy lying on the couch. He was short stature thin with minimal subcutaneous tissue, skin was thin and fragile with loss of hair over scalp, eyebrows and eyelashes, and his face was dismorphic with prominent eyes, beaked nose, small jaw and large cranium with visible veins over it. His voice was thin and high pitched. Overall, this gives them an extremely aged nearly 70 -80 years old man look. The patient was a known case of progeria syndrome and he was treated as a VIP patient by all faculty members and staff, though he belongs low socioeconomic status, no political issue with them. But still he was a VIP.

  4. Transgene silencing of the Hutchinson-Gilford progeria syndrome mutation results in a reversible bone phenotype, whereas resveratrol treatment does not show overall beneficial effects

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    Strandgren, Charlotte; Nasser, Hasina Abdul; McKenna, Tomás

    2015-01-01

    Hutchinson-Gilford progeria syndrome (HGPS) is a rare premature aging disorder that is most commonly caused by a de novo point mutation in exon 11 of the LMNA gene, c.1824C>T, which results in an increased production of a truncated form of lamin A known as progerin. In this study, we used a mouse...... progerin splicing give hope to patients who are affected by HGPS.-Strandgren, C., Nasser, H. A., McKenna, T., Koskela, A., Tuukkanen, J., Ohlsson, C., Rozell, B., Eriksson, M. Transgene silencing of the Hutchinson-Gilford progeria syndrome mutation results in a reversible bone phenotype, whereas...

  5. A lamin A protein isoform overexpressed in Hutchinson–Gilford progeria syndrome interferes with mitosis in progeria and normal cells

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    Cao, Kan; Capell, Brian C.; Erdos, Michael R.; Djabali, Karima; Collins, Francis S.

    2007-01-01

    Hutchinson–Gilford progeria syndrome (HGPS) is a rare genetic disorder characterized by dramatic premature aging. Classic HGPS is caused by a de novo point mutation in exon 11 (residue 1824, C → T) of the LMNA gene, activating a cryptic splice donor and resulting in a mutant lamin A (LA) protein termed “progerin/LAΔ50” that lacks the normal cleavage site to remove a C-terminal farnesyl group. During interphase, irreversibly farnesylated progerin/LAΔ50 anchors to the nuclear membrane and causes characteristic nuclear blebbing. Progerin/LAΔ50's localization and behavior during mitosis, however, are completely unknown. Here, we report that progerin/LAΔ50 mislocalizes into insoluble cytoplasmic aggregates and membranes during mitosis and causes abnormal chromosome segregation and binucleation. These phenotypes are largely rescued with either farnesyltransferase inhibitors or a farnesylation-incompetent mutant progerin/LAΔ50. Furthermore, we demonstrate that small amounts of progerin/LAΔ50 exist in normal fibroblasts, and a significant percentage of these progerin/LAΔ50-expressing normal cells are binucleated, implicating progerin/LAΔ50 as causing similar mitotic defects in the normal aging process. Our findings present evidence of mitotic abnormality in HGPS and may shed light on the general phenomenon of aging. PMID:17360355

  6. Hutchinson-Gilford progeria syndrome with severe calcific aortic valve stenosis

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    Natesh B Hanumanthappa

    2011-01-01

    Full Text Available Hutchinson-Gilford progeria syndrome (HGPS is a rare premature aging syndrome that results from mutation in the Laminin A gene. This case report of a 12-year-old girl with HGPS is presented for the rarity of the syndrome and the classical clinical features that were observed in the patient. All patients with this condition should undergo early and periodic evaluation for cardiovascular diseases. However, the prognosis is poor and management is mainly conservative. There is no proven therapy available. Mortality in this uniformly fatal condition is primarily due to myocardial infarction, strokes or congestive cardiac failure between ages 7 and 21 years due to the rapidly progressive arteriosclerosis involving the large vessels.

  7. Bilateral stenosis of carotid siphon in Hutchinson-Gilford progeria syndrome.

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    Narazaki, Ryo; Makimura, Mika; Sanefuji, Masafumi; Fukamachi, Shigeru; Akiyoshi, Hidetaka; So, Hidenori; Yamamura, Kenichiro; Doisaki, Sayoko; Kojima, Seiji; Ihara, Kenji; Hara, Toshiro; Ohga, Shouichi

    2013-08-01

    Hutchinson-Gilford progeria syndrome (HGPS) is a rare premature aging disease, caused by a de novo mutation of lamin-A gene, LMNA G608G. Accumulation of abnormal lamin-A (progerin) compromises nuclear membrane integrity and results in the accelerated senescence. Affected patients show a typical feature of birdlike face, alopecia, sclerotic skin, loss of subcutaneous fat, and short stature with advancing years. Neonatal scleroderma is the first presentation, although early diagnosis is challenging. The leading cause of death is cardio-/cerebro-vascular accidents associated with atherosclerosis. However, not all findings may recapitulate the aging process. We herein report a 9-year-old Japanese male with HGPS who developed cerebral infarction. The genetic study of peripheral blood-derived DNA determined a heterozygous c.1824C>T mutation, p.G608G. Telomere length of lymphocytes was normal. Bilateral stenosis of carotid siphons was prominent, while systemic arteriosclerosis was unremarkable assessed by the ankle-brachial index, carotid ultrasound imaging and funduscopic study. HGPS patients have marked loss and functional defects in vascular smooth muscle cells, leading to the vulnerability to circulatory stress. Symmetrical stenosis of siphons might occur as a distinctive cerebral vasculopathy of HGPS, rather than simple vascular senescence. Peripheral blood study on LMNA G608G and telomere length could screen progerias in infancy for early therapeutic intervention. Copyright © 2012 The Japanese Society of Child Neurology. Published by Elsevier B.V. All rights reserved.

  8. A 36 years old woman with Hutchinson-Gilford Progeria Syndrome: a case report

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    Akrami S M

    2007-10-01

    Full Text Available Background: Hutchinson-Gilford Progeria Syndrome (HGPS is a very rare genetic disorder with a frequency of 1 in 8 million live births. It is characterised by premature aging phenotype. The median age at death is 13.4 years. It is an autosomal dominat disease due to a de novo point mutation in the Lamin A gene exon 11 in the majority of cases. More than 100 cases have been reported world wide."nCase report: We describe here an exceptionally long-lived patient with HGPS, who is alive at age 36. She was referred by a cardiologist to our endocrinology clinic to be worked up for presence of a metabolic or genetic disorder before a heart surgery."nResults: Having more attention of clinicians about very rare diseases and referring the patients to geneticist are the main goals of this case report as well as describing the disease.

  9. Neonatal progeria: increased ratio of progerin to lamin A leads to progeria of the newborn

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    Reunert, Janine; Wentzell, Rüdiger; Walter, Michael; Jakubiczka, Sibylle; Zenker, Martin; Brune, Thomas; Rust, Stephan; Marquardt, Thorsten

    2012-01-01

    Hutchinson–Gilford progeria syndrome (HGPS) is an important model disease for premature ageing. Affected children appear healthy at birth, but develop the first symptoms during their first year of life. They die at an average age of 13 years, mostly because of myocardial infarction or stroke. Classical progeria is caused by the heterozygous point mutation c.1824C>T in the LMNA gene, which activates a cryptic splice site. The affected protein cannot be processed correctly to mature lamin A, bu...

  10. Using drug treatments to control genome behaviour in normal and Hutchinson-Gilford Progeria Syndrome fibroblasts, with and without hTERT immortalisation

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    Bikkul, Mehmet Ural

    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 an exceedingly rare genetic condition with striking features reminiscent of marked premature ageing. HGPS is commonly caused by a ‘classic’ mutation in the A-type lamin gene, LMNA (G608G). This leads to the expression of an aberrant truncated lamin A protein, progerin. The nuclear lamina is known to anchor chromosomes, stabilising and re...

  11. Partial lipodystrophy with severe insulin resistance and adult progeria Werner syndrome.

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    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

    2013-07-12

    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. We analysed the clinical and biological features of two women, aged 32 and 36, referred for partial lipodystrophic syndrome which led to the molecular diagnosis of Werner syndrome. Cultured skin fibroblasts from one patient were studied. Two normal-weighted women presented with a partial lipodystrophic syndrome with hypertriglyceridemia and liver steatosis. One of them had also diabetes. Both patients showed a peculiar, striking lipodystrophic phenotype with subcutaneous lipoatrophy of the four limbs contrasting with truncal and abdominal fat accumulation. Their oral glucose tolerance tests showed extremely high levels of insulinemia, revealing major insulin resistance. Low serum levels of sex-hormone binding globulin and adiponectin suggested a post-receptor insulin signalling defect. Other clinical features included bilateral cataracts, greying hair and distal skin atrophy. We observed biallelic WRN null mutations in both women (p.Q748X homozygous, and compound heterozygous p.Q1257X/p.M1329fs). Their fertility was decreased, with preserved menstrual cycles and normal follicle-stimulating hormone levels ruling out premature ovarian failure. However undetectable anti-müllerian hormone and inhibin B indicated diminished follicular ovarian reserve. Insulin-resistance linked ovarian hyperandrogenism could also contribute to decreased fertility, and the two patients became pregnant after initiation of insulin-sensitizers (metformin). Both pregnancies were complicated by severe cervical incompetence, leading to the preterm birth of a healthy newborn in one case, but to a second trimester

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

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    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.

  13. Compound heterozygosity for mutations in LMNA causes a progeria syndrome without prelamin A accumulation.

    NARCIS (Netherlands)

    Verstraeten, V.L.; Broers, J.L.; Steensel, M.A.M. van; Zinn-Justin, S.; Ramaekers, F.C.S.; Steijlen, P.M.; Kamps, M.; Kuijpers, H.J.; Merckx, D.; Smeets, H.J.M.; Hennekam, R.C.M.; Marcelis, C.L.M.; Wijngaard, A. van de

    2006-01-01

    LMNA-associated progeroid syndromes have been reported with both recessive and dominant inheritance. We report a 2-year-old boy with an apparently typical Hutchinson-Gilford progeria syndrome (HGPS) due to compound heterozygous missense mutations (p.T528M and p.M540T) in LMNA. Both mutations affect

  14. Compound heterozygosity for mutations in LMNA causes a progeria syndrome without prelamin A accumulation

    NARCIS (Netherlands)

    Verstraeten, Valerie L. R. M.; Broers, Jos L. V.; van Steensel, Maurice A. M.; Zinn-Justin, Sophie; Ramaekers, Frans C. S.; Steijlen, Peter M.; Kamps, Miriam; Kuijpers, Helma J. H.; Merckx, Diane; Smeets, Hubert J. M.; Hennekam, Raoul C. M.; Marcelis, Carlo L. M.; van den Wijngaard, Arthur

    2006-01-01

    LMNA-associated progeroid syndromes have been reported with both recessive and dominant inheritance. We report a 2-year-old boy with an apparently typical Hutchinson-Gilford progeria syndrome (HGPS) due to compound heterozygous missense mutations (p.T528M and p.M540T) in LMNA. Both mutations affect

  15. An Xpd mouse model for the combined xeroderma pigmentosum/Cockayne syndrome exhibiting both cancer predisposition and segmental progeria.

    NARCIS (Netherlands)

    Andressoo, Jaan-Olle; Mitchell, James R; Wit, Jan de; Hoogstraten, Deborah; Volker, Marcel; Toussaint, Wendy; Speksnijder, Ewoud; Beems, Rudolf B; Steeg, Harry van; Jans, Judith; Zeeuw, Chris I de; Jaspers, Nicolaas G J; Raams, Anja; Lehmann, Alan R; Vermeulen, Wim; Hoeijmakers, Jan H J; Horst, Gijsbertus T J van der

    2006-01-01

    Inborn defects in nucleotide excision DNA repair (NER) can paradoxically result in elevated cancer incidence (xeroderma pigmentosum [XP]) or segmental progeria without cancer predisposition (Cockayne syndrome [CS] and trichothiodystrophy [TTD]). We report generation of a knockin mouse model for the

  16. The Defective Nuclear Lamina in Hutchinson-Gilford Progeria Syndrome Disrupts the Nucleocytoplasmic Ran Gradient and Inhibits Nuclear Localization of Ubc9▿

    Science.gov (United States)

    Kelley, Joshua B.; Datta, Sutirtha; Snow, Chelsi J.; Chatterjee, Mandovi; Ni, Li; Spencer, Adam; Yang, Chun-Song; Cubeñas-Potts, Caelin; Matunis, Michael J.; Paschal, Bryce M.

    2011-01-01

    The mutant form of lamin A responsible for the premature aging disease Hutchinson-Gilford progeria syndrome (termed progerin) acts as a dominant negative protein that changes the structure of the nuclear lamina. How the perturbation of the nuclear lamina in progeria is transduced into cellular changes is undefined. Using patient fibroblasts and a variety of cell-based assays, we determined that progerin expression in Hutchinson-Gilford progeria syndrome inhibits the nucleocytoplasmic transport of several factors with key roles in nuclear function. We found that progerin reduces the nuclear/cytoplasmic concentration of the Ran GTPase and inhibits the nuclear localization of Ubc9, the sole E2 for SUMOylation, and of TPR, the nucleoporin that forms the basket on the nuclear side of the nuclear pore complex. Forcing the nuclear localization of Ubc9 in progerin-expressing cells rescues the Ran gradient and TPR import, indicating that these pathways are linked. Reducing nuclear SUMOylation decreases the nuclear mobility of the Ran nucleotide exchange factor RCC1 in vivo, and the addition of SUMO E1 and E2 promotes the dissociation of RCC1 and Ran from chromatin in vitro. Our data suggest that the cellular effects of progerin are transduced, at least in part, through reduced function of the Ran GTPase and SUMOylation pathways. PMID:21670151

  17. 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

  18. Progeria syndrome with characteristic deformation of proximal radius observed on CT

    Energy Technology Data Exchange (ETDEWEB)

    Sood, S.; Rao, R.C.K.; Ragav, B.; Berry, M. (All India Inst. of Medical Sciences, New Delhi (India). Dept. of Radio-Diagnosis)

    1991-01-01

    The progeria syndrome (Hutchinson-Gilford) is an uncommon disease. A peculiar shape of the proximal radial metaphyseal region caused by an infolding of the cortex was observed on CT in 2 brothers suffering from this disorder, a feature not previously reported. A brief review of the radiologic literature was undertaken. This new observation needs to be further evaluated as it may provide a clinching diagnostic feature of this disease. (orig.).

  19. Lifespan extension by dietary intervention in a mouse model of Cockayne syndrome uncouples early postnatal development from segmental progeria.

    Science.gov (United States)

    Brace, Lear E; Vose, Sarah C; Vargas, Dorathy F; Zhao, Shuangyun; Wang, Xiu-Ping; Mitchell, James R

    2013-12-01

    Cockayne syndrome (CS) is a rare autosomal recessive segmental progeria characterized by growth failure, lipodystrophy, neurological abnormalities, and photosensitivity, but without skin cancer predisposition. Cockayne syndrome life expectancy ranges from 5 to 16 years for the two most severe forms (types II and I, respectively). Mouse models of CS have thus far been of limited value due to either very mild phenotypes, or premature death during postnatal development prior to weaning. The cause of death in severe CS models is unknown, but has been attributed to extremely rapid aging. Here, we found that providing mutant pups with soft food from as late as postnatal day 14 allowed survival past weaning with high penetrance independent of dietary macronutrient balance in a novel CS model (Csa(-/-) | Xpa(-/-)). Survival past weaning revealed a number of CS-like symptoms including small size, progressive loss of adiposity, and neurological symptoms, with a maximum lifespan of 19 weeks. Our results caution against interpretation of death before weaning as premature aging, and at the same time provide a valuable new tool for understanding mechanisms of progressive CS-related progeroid symptoms including lipodystrophy and neurodysfunction. © 2013 the Anatomical Society and John Wiley & Sons Ltd.

  20. Hypoparathyroidism in an Egyptian child with Hutchinson-Gilford progeria syndrome: a case report

    Directory of Open Access Journals (Sweden)

    Kalil Kotb

    2012-01-01

    Full Text Available Abstract Introduction Hutchinson-Gilford progeria syndrome is a rare genetic disorder. It is reported to be present in one in eight million and is characterized by severe growth failure, early loss of hair, lipodystrophy, scleroderma, decreased joint mobility, osteolysis, early atherosclerosis and facial features that resemble those of an aged person. Apart from diabetes mellitus, there are no reported abnormalities of thyroid, parathyroid, pituitary or adrenal function. Here, we report the case of a 10-year-old Egyptian child with Hutchinson-Gilford progeria syndrome and hypoparathyroidism. Case presentation A 10-year-old Egyptian boy was referred to our institution for an evaluation of recurrent attacks of muscle cramps, paresthesia of his fingertips and perioral numbness of two months duration. On examination, we found dilated veins present over his scalp with alopecia and frontal bossing, a beaked nose, thin lips, protruding ears, a high pitched voice with sparse hair over his eyebrows and eyelashes and micrognathia but normal dentition. His eyes appeared prominent and our patient appeared to have poor sexual development. A provisional diagnosis of progeria was made, which was confirmed by molecular genetics study. Chvostek's and Trousseau's signs were positive. He had low total calcium (5.4 mg/dL, low ionized calcium (2.3 mg/dL, raised serum phosphate (7.2 mg/dL, raised alkaline phosphatase (118 U/L and low intact parathyroid hormone (1.2 pg/mL levels. He was started on oral calcium salt and vitamin D; his symptoms improved with the treatment and his serum calcium, urinary calcium and alkaline phosphates level were monitored every three months to ensure adequacy of therapy and to avoid hypercalcemia. Conclusion Routine checking of serum calcium, phosphorus and parathyroid hormone will help in the early detection of hypoparathyrodism among children with progeria.

  1. Hypoparathyroidism in an Egyptian child with Hutchinson-Gilford progeria syndrome: a case report.

    Science.gov (United States)

    Kalil, Kotb Abbass Metwalley; Fargalley, Hekma Saad

    2012-01-17

    Hutchinson-Gilford progeria syndrome is a rare genetic disorder. It is reported to be present in one in eight million and is characterized by severe growth failure, early loss of hair, lipodystrophy, scleroderma, decreased joint mobility, osteolysis, early atherosclerosis and facial features that resemble those of an aged person. Apart from diabetes mellitus, there are no reported abnormalities of thyroid, parathyroid, pituitary or adrenal function. Here, we report the case of a 10-year-old Egyptian child with Hutchinson-Gilford progeria syndrome and hypoparathyroidism. A 10-year-old Egyptian boy was referred to our institution for an evaluation of recurrent attacks of muscle cramps, paresthesia of his fingertips and perioral numbness of two months duration. On examination, we found dilated veins present over his scalp with alopecia and frontal bossing, a beaked nose, thin lips, protruding ears, a high pitched voice with sparse hair over his eyebrows and eyelashes and micrognathia but normal dentition. His eyes appeared prominent and our patient appeared to have poor sexual development. A provisional diagnosis of progeria was made, which was confirmed by molecular genetics study. Chvostek's and Trousseau's signs were positive. He had low total calcium (5.4 mg/dL), low ionized calcium (2.3 mg/dL), raised serum phosphate (7.2 mg/dL), raised alkaline phosphatase (118 U/L) and low intact parathyroid hormone (1.2 pg/mL) levels. He was started on oral calcium salt and vitamin D; his symptoms improved with the treatment and his serum calcium, urinary calcium and alkaline phosphates level were monitored every three months to ensure adequacy of therapy and to avoid hypercalcemia. Routine checking of serum calcium, phosphorus and parathyroid hormone will help in the early detection of hypoparathyrodism among children with progeria.

  2. Defective lamin A-Rb signaling in Hutchinson-Gilford Progeria Syndrome and reversal by farnesyltransferase inhibition.

    Directory of Open Access Journals (Sweden)

    Jackleen Marji

    Full Text Available Hutchinson-Gilford Progeria Syndrome (HGPS is a rare premature aging disorder caused by a de novo heterozygous point mutation G608G (GGC>GGT within exon 11 of LMNA gene encoding A-type nuclear lamins. This mutation elicits an internal deletion of 50 amino acids in the carboxyl-terminus of prelamin A. The truncated protein, progerin, retains a farnesylated cysteine at its carboxyl terminus, a modification involved in HGPS pathogenesis. Inhibition of protein farnesylation has been shown to improve abnormal nuclear morphology and phenotype in cellular and animal models of HGPS. We analyzed global gene expression changes in fibroblasts from human subjects with HGPS and found that a lamin A-Rb signaling network is a major defective regulatory axis. Treatment of fibroblasts with a protein farnesyltransferase inhibitor reversed the gene expression defects. Our study identifies Rb as a key factor in HGPS pathogenesis and suggests that its modulation could ameliorate premature aging and possibly complications of physiological aging.

  3. The two-faced progeria gene and its implications in aging and metabolism

    NARCIS (Netherlands)

    Chatzispyrou, Iliana A.; Houtkooper, Riekelt H.

    2014-01-01

    Premature aging syndromes have gained much attention, not only because of their devastating symptoms but also because they might hold a key to some of the mechanisms underlying aging. The Hutchinson-Gilford progeria syndrome (HGPS) is caused by a mutation in the LMNA gene, which normally produces

  4. Hip pathology in Hutchinson-Gilford progeria syndrome: a report of two children.

    Science.gov (United States)

    Akhbari, Pouya; Jha, Shilpa; James, Kyle D; Hinves, Barry L; Buchanan, Jamie A F

    2012-11-01

    Hutchinson-Gilford progeria syndrome (HGPS) is a rare genetic disorder. The estimated incidence is one in 4 million births. Orthopaedic manifestations include abnormality of the hips occurring early in the disease process. Severe coxa valga can be apparent by the age of 2 years. We report two cases of HGPS, one in a 7-year-old girl with avascular necrosis of the left hip and the second in a 13-year-old girl with recurrent traumatic hip dislocations. We demonstrate the pathoanatomical changes in the hip with HGPS using a combination of imaging modalities including radiographic, computed tomographic and MRI scans. These include coxa magna, coxa valga and acetabular dysplasia. We also comment on how these would affect the surgical management of this high-risk group of patients. © 2012 Wolters Kluwer Health | Lippincott Williams & Wilkins.

  5. Transient monoparesis following blade plate removal in a Hutchinson-Gilford progeria syndrome patient. A case report

    OpenAIRE

    Yandow, Suzanne M.; Rimoin, David L.; Grace, Aimee M.; Fillman, Ramona R.; Raney, Ellen M.

    2009-01-01

    Treating patients with Hutchinson-Gilford progeria syndrome (HGPS) are based on the abnormalities of accelerated aging that affect the healing processes, combined with a fragile cardiovascular status. A classic HGPS case is presented, of Korean ancestry, who was treated for severe coxa valga with bilateral varus osteotomies using blade plate fixation. Complications over the blade plate area required removal of the hardware, after which the patient displayed left-sided hypertonicity--determine...

  6. Neonatal progeria: increased ratio of progerin to lamin A leads to progeria of the newborn.

    Science.gov (United States)

    Reunert, Janine; Wentzell, Rüdiger; Walter, Michael; Jakubiczka, Sibylle; Zenker, Martin; Brune, Thomas; Rust, Stephan; Marquardt, Thorsten

    2012-09-01

    Hutchinson-Gilford progeria syndrome (HGPS) is an important model disease for premature ageing. Affected children appear healthy at birth, but develop the first symptoms during their first year of life. They die at an average age of 13 years, mostly because of myocardial infarction or stroke. Classical progeria is caused by the heterozygous point mutation c.1824C>T in the LMNA gene, which activates a cryptic splice site. The affected protein cannot be processed correctly to mature lamin A, but is modified into a farnesylated protein truncated by 50 amino acids (progerin). Three more variations in LMNA result in the same mutant protein, but different grades of disease severity. We describe a patient with the heterozygous LMNA mutation c.1821G>A, leading to neonatal progeria with death in the first year of life. Intracellular lamin A was downregulated in the patient's fibroblasts and the ratio of progerin to lamin A was increased when compared with HGPS. It is suggestive that the ratio of farnesylated protein to mature lamin A determines the disease severity in progeria.

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

    DEFF Research Database (Denmark)

    Bygum, Anette; Westermark, Per; Brandrup, Flemming

    2008-01-01

    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 aft...

  8. Transient monoparesis following blade plate removal in a Hutchinson-Gilford progeria syndrome patient. A case report

    Science.gov (United States)

    Yandow, Suzanne M.; Rimoin, David L.; Grace, Aimee M.; Fillman, Ramona R.; Raney, Ellen M.

    2010-01-01

    Treating patients with Hutchinson-Gilford progeria syndrome (HGPS) are based on the abnormalities of accelerated aging that affect the healing processes, combined with a fragile cardiovascular status. A classic HGPS case is presented, of Korean ancestry, who was treated for severe coxa valga with bilateral varus osteotomies using blade plate fixation. Complications over the blade plate area required removal of the hardware, after which the patient displayed left-sided hypertonicity--determined to be a cerebrovascular accident. Subsequently, she returned almost completely to her pre-surgical neurologic status. Perioperative planning for HGPS patients should include risks typically considered in the planning for geriatric patient care. PMID:19373113

  9. The epidemiology of premature aging and associated comorbidities

    National Research Council Canada - National Science Library

    Coppedè, Fabio

    2013-01-01

    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...

  10. Unique Preservation of Neural Cells in Hutchinson- Gilford Progeria Syndrome Is Due to the Expression of the Neural-Specific miR-9 MicroRNA

    Directory of Open Access Journals (Sweden)

    Xavier Nissan

    2012-07-01

    Full Text Available One puzzling observation in patients affected with Hutchinson-Gilford progeria syndrome (HGPS, who overall exhibit systemic and dramatic premature aging, is the absence of any conspicuous cognitive impairment. Recent studies based on induced pluripotent stem cells derived from HGPS patient cells have revealed a lack of expression in neural derivatives of lamin A, a major isoform of LMNA that is initially produced as a precursor called prelamin A. In HGPS, defective maturation of a mutated prelamin A induces the accumulation of toxic progerin in patient cells. Here, we show that a microRNA, miR-9, negatively controls lamin A and progerin expression in neural cells. This may bear major functional correlates, as alleviation of nuclear blebbing is observed in nonneural cells after miR-9 overexpression. Our results support the hypothesis, recently proposed from analyses in mice, that protection of neural cells from progerin accumulation in HGPS is due to the physiologically restricted expression of miR-9 to that cell lineage.

  11. Stem cell aging in adult progeria

    Directory of Open Access Journals (Sweden)

    Hoi-Hung Cheung

    2015-01-01

    Full Text Available Aging is considered an irreversible biological process and also a major risk factor for a spectrum of geriatric diseases. Advanced age-related decline in physiological functions, such as neurodegeneration, development of cardiovascular disease, endocrine and metabolic dysfunction, and neoplastic transformation, has become the focus in aging research. Natural aging is not regarded as a programmed process. However, accelerated aging due to inherited genetic defects in patients of progeria is programmed and resembles many aspects of natural aging. Among several premature aging syndromes, Werner syndrome (WS and Hutchinson–Gilford progeria syndrome (HGPS are two broadly investigated diseases. In this review, we discuss how stem cell aging in WS helps us understand the biology of aging. We also discuss briefly how the altered epigenetic landscape in aged cells can be reversed to a “juvenile” state. Lastly, we explore the potential application of the latest genomic editing technique for stem cell-based therapy and regenerative medicine in the context of aging.

  12. Cockayne syndrome--a case report, and a review of the premature aging syndromes in paediatrics.

    Science.gov (United States)

    Loke, K Y

    1991-01-01

    The premature aging syndromes are a rare eccentric group of syndromes in which predominantly senile features develop prematurely. Cockayne Syndrome is one of several premature aging syndromes; it has been recognised, but hitherto unreported in the local literature. This is a case report of a child with the classical features of Cockayne Syndrome.

  13. Novel LMNA mutations cause an aggressive atypical neonatal progeria without progerin accumulation

    NARCIS (Netherlands)

    Soria-Valles, Clara; Carrero, Dido; Gabau, Elisabeth; Velasco, Gloria; Quesada, Víctor; Bárcena, Clea; Moens, Marleen; Fieggen, Karen; Möhrcken, Silvia; Owens, Martina; Puente, Diana A.; Asensio, Óscar; Loeys, Bart; Pérez, Ana; Benoit, Valerie; Wuyts, Wim; Lévy, Nicolas; Hennekam, Raoul C.; de Sandre-Giovannoli, Annachiara; López-Otín, Carlos

    2016-01-01

    Background Progeroid syndromes are genetic disorders that recapitulate some phenotypes of physiological ageing. Classical progerias, such as Hutchinson-Gilford progeria syndrome (HGPS), are generally caused by mutations in LMNA leading to accumulation of the toxic protein progerin and consequently,

  14. Blocking protein farnesylation improves nuclear shape abnormalities in keratinocytes of mice expressing the prelamin A variant in Hutchinson-Gilford progeria syndrome

    OpenAIRE

    Wang, Yuexia; Östlund, Cecilia; Worman, Howard J

    2010-01-01

    Hutchinson-Gilford progeria syndrome (HGPS) is an accelerated aging disorder caused by mutations in LMNA leading to expression of a truncated prelamin A variant termed progerin. Whereas a farnesylated polypeptide is normally removed from the carboxyl-terminus of prelamin A during endoproteolytic processing to lamin A, progerin lacks the cleavage site and remains farnesylated. Cultured cells from human subjects with HGPS and genetically modified mice expressing progerin have nuclear morphologi...

  15. Loss of H3K9me3 Correlates with ATM Activation and Histone H2AX Phosphorylation Deficiencies in Hutchinson-Gilford Progeria Syndrome.

    Directory of Open Access Journals (Sweden)

    Haoyue Zhang

    Full Text Available Compelling evidence suggests that defective DNA damage response (DDR plays a key role in the premature aging phenotypes in Hutchinson-Gilford progeria syndrome (HGPS. Studies document widespread alterations in histone modifications in HGPS cells, especially, the global loss of histone H3 trimethylated on lysine 9 (H3K9me3. In this study, we explore the potential connection(s between H3K9me3 loss and the impaired DDR in HGPS. When cells are exposed to a DNA-damaging agent Doxorubicin (Dox, double strand breaks (DSBs are generated that result in the phosphorylation of histone H2A variant H2AX (gammaH2AX within an hour. We find that the intensities of gammaH2AX foci appear significantly weaker in the G0/G1 phase HGPS cells compared to control cells. This reduction is associated with a delay in the recruitment of essential DDR factors. We further demonstrate that ataxia-telangiectasia mutated (ATM is responsible for the amplification of gammaH2AX signals at DSBs during G0/G1 phase, and its activation is inhibited in the HGPS cells that display significant loss of H3K9me3. Moreover, methylene (MB blue treatment, which is known to save heterochromatin loss in HGPS, restores H3K9me3, stimulates ATM activity, increases gammaH2AX signals and rescues deficient DDR. In summary, this study demonstrates an early DDR defect of attenuated gammaH2AX signals in G0/G1 phase HGPS cells and provides a plausible connection between H3K9me3 loss and DDR deficiency.

  16. Discordant gene expression signatures and related phenotypic differences in lamin A- and A/C-related Hutchinson-Gilford progeria syndrome (HGPS.

    Directory of Open Access Journals (Sweden)

    Martina Plasilova

    Full Text Available Hutchinson-Gilford progeria syndrome (HGPS is a genetic disorder displaying features reminiscent of premature senescence caused by germline mutations in the LMNA gene encoding lamin A and C, essential components of the nuclear lamina. By studying a family with homozygous LMNA mutation (K542N, we showed that HGPS can also be caused by mutations affecting both isoforms, lamin A and C. Here, we aimed to elucidate the molecular mechanisms underlying the pathogenesis in both, lamin A- (sporadic and lamin A and C-related (hereditary HGPS. For this, we performed detailed molecular studies on primary fibroblasts of hetero- and homozygous LMNA K542N mutation carriers, accompanied with clinical examinations related to the molecular findings. By assessing global gene expression we found substantial overlap in altered transcription profiles (13.7%; 90/657 in sporadic and hereditary HGPS, with 83.3% (75/90 concordant and 16.7% (15/90 discordant transcriptional changes. Among the concordant ones we observed down-regulation of TWIST2, whose inactivation in mice and humans leads to loss of subcutaneous fat and dermal appendages, and loss of expression in dermal fibroblasts and periadnexial cells from a LMNA(K542N/K542N patient further confirming its pivotal role in skin development. Among the discordant transcriptional profiles we identified two key mediators of vascular calcification and bone metabolism, ENPP1 and OPG, which offer a molecular explanation for the major phenotypic differences in vascular and bone disease in sporadic and hereditary HGPS. Finally, this study correlates reduced TWIST2 and OPG expression with increased osteocalcin levels, thereby linking altered bone remodeling to energy homeostasis in hereditary HGPS.

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

    OpenAIRE

    Dreesen, Oliver; Stewart, Colin L.

    2011-01-01

    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? ...

  18. Progeria in siblings: A rare case report

    Directory of Open Access Journals (Sweden)

    R Sowmiya

    2011-01-01

    Full Text Available Progeria, also known as Hutchinson-Gilford syndrome, is an extremely rare, severe genetic condition wherein symptoms resembling aspects of aging are manifested at an early age. It is an autosomal dominant disorder. It is not seen in siblings of affected children although there are very few case reports of progeria affecting more than one child in a family. Here we are presenting two siblings, a 14-year-old male and a 13-year-old female with features of progeria, suggesting a possible autosomal recessive inheritance.

  19. Chediak-Higashi Syndrome and Premature Exfoliation of Primary Teeth

    OpenAIRE

    Rezende,Karla Mayra; Canela,Alfredo Hiram Carrillo; Ortega,Adriana Oliveira Lira; Tintel,Claudia; Bonecker,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 th...

  20. Chemical screening identifies ROCK as a target for recovering mitochondrial function in Hutchinson-Gilford progeria syndrome.

    Science.gov (United States)

    Kang, Hyun Tae; Park, Joon Tae; Choi, Kobong; Choi, Hyo Jei Claudia; Jung, Chul Won; Kim, Gyu Ree; Lee, Young-Sam; Park, Sang Chul

    2017-06-01

    Hutchinson-Gilford progeria syndrome (HGPS) constitutes a genetic disease wherein an aging phenotype manifests in childhood. Recent studies indicate that reactive oxygen species (ROS) play important roles in HGPS phenotype progression. Thus, pharmacological reduction in ROS levels has been proposed as a potentially effective treatment for patient with this disorder. In this study, we performed high-throughput screening to find compounds that could reduce ROS levels in HGPS fibroblasts and identified rho-associated protein kinase (ROCK) inhibitor (Y-27632) as an effective agent. To elucidate the underlying mechanism of ROCK in regulating ROS levels, we performed a yeast two-hybrid screen and discovered that ROCK1 interacts with Rac1b. ROCK activation phosphorylated Rac1b at Ser71 and increased ROS levels by facilitating the interaction between Rac1b and cytochrome c. Conversely, ROCK inactivation with Y-27632 abolished their interaction, concomitant with ROS reduction. Additionally, ROCK activation resulted in mitochondrial dysfunction, whereas ROCK inactivation with Y-27632 induced the recovery of mitochondrial function. Furthermore, a reduction in the frequency of abnormal nuclear morphology and DNA double-strand breaks was observed along with decreased ROS levels. Thus, our study reveals a novel mechanism through which alleviation of the HGPS phenotype is mediated by the recovery of mitochondrial function upon ROCK inactivation. © 2017 The Authors. Aging Cell published by the Anatomical Society and John Wiley & Sons Ltd.

  1. Respiratory distress syndrome and birth order in premature twins

    OpenAIRE

    Hacking, D; Watkins, A; Fraser, S; Wolfe, R; Nolan, T

    2001-01-01

    OBJECTIVE—To determine the effect of birth order on respiratory distress syndrome (RDS) in the outcome of twins in a large premature population managed in a modern neonatal intensive care unit.
METHODS—An historical cohort study design was used to analyse the neonatal outcomes of 301 premature liveborn twin sibling pairs of between 23 and 31 weeks gestation from the Australia and New Zealand Neonatal Network 1995database.
RESULTS—Among the 56 twin sibling pairs who were discord...

  2. 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.

  3. A homozygous ZMPSTE24 null mutation in combination with a heterozygous mutation in the LMNA gene causes Hutchinson-Gilford progeria syndrome (HGPS): insights into the pathophysiology of HGPS.

    Science.gov (United States)

    Denecke, Jonas; Brune, Thomas; Feldhaus, Tobias; Robenek, Horst; Kranz, Christian; Auchus, Richard J; Agarwal, Anil K; Marquardt, Thorsten

    2006-06-01

    Hutchinson-Gilford progeria syndrome (HGPS) is a rare premature aging disorder normally caused by a spontaneous heterozygous mutation in the LMNA gene that codes for the nuclear lamina protein lamin A. Several enzymes are involved in the processing of its precursor, prelamin A, to the mature lamin A. A functional knockout of one of the enzymes involved in prelamin A processing, the zinc metalloprotease ZMPSTE24, causes an even more severe disorder with early neonatal death described as restrictive dermatopathy (RD). This work describes a HGPS patient with a combined defect of a homozygous loss-of-function mutation in the ZMPSTE24 gene and a heterozygous mutation in the LMNA gene that results in a C-terminal elongation of the final lamin A. Whereas the loss of function mutation of ZMPSTE24 normally results in lethal RD, the truncation of LMNA seems to be a salvage alteration alleviating the clinical picture to the HGPS phenotype. The mutations of our patient indicate that farnesylated prelamin A is the deleterious agent leading to the HGPS phenotype, which gives further insights into the pathophysiology of the disorder. Copyright 2006 Wiley-Liss, Inc.

  4. 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

  5. Respiratory distress syndrome and birth order in premature twins

    Science.gov (United States)

    Hacking, D; Watkins, A; Fraser, S; Wolfe, R; Nolan, T

    2001-01-01

    OBJECTIVE—To determine the effect of birth order on respiratory distress syndrome (RDS) in the outcome of twins in a large premature population managed in a modern neonatal intensive care unit.
METHODS—An historical cohort study design was used to analyse the neonatal outcomes of 301 premature liveborn twin sibling pairs of between 23 and 31 weeks gestation from the Australia and New Zealand Neonatal Network 1995database.
RESULTS—Among the 56 twin sibling pairs who were discordant for RDS, the second twin was affected in 41 cases (odds ratio (OR) 2.7,95% confidence interval (CI) 1.5 to 5.3). The excess risk of RDS in the second twin increased with gestation and was statistically significant for twins above 29 weeks gestation (OR 4.4, 95% CI 1.6 to 15).
CONCLUSIONS—There is a significant increased risk of RDS associated with being the second born of premature twins, which appears to depend on gestation.

 PMID:11207228

  6. 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

  7. Serum lipid and lipoprotein levels in premature ageing syndromes: total lipodystrophy and Cockayne syndrome.

    Science.gov (United States)

    László, A; Simon, M

    1986-10-01

    Serum lipids and lipoproteins were investigated in two girls who suffered from total lipodystrophy, in their family members, and in two brothers suffering from Cockayne syndrome. Hyperlipoproteinemia type IIb (Fredrickson) was detected in one case with total lipodystrophy. Very low levels of serum high density lipoprotein cholesterol (HDL-Ch) were observed in both of total lipodystrophic cases, in most of their first degree relatives, and in one of patients with Cockayne syndrome. Because total lipodystrophy and the Cockayne syndrome belong to ageing syndromes they can serve as a useful model of premature arteriosclerosis and the defect lipid metabolism.

  8. Physical Therapy and Occupational Therapy in Progeria

    Science.gov (United States)

    Physical Therapy and Occupational Therapy in Progeria Information for Families and Caretakers from The Progeria Research Foundation Written ... accelerated aging in children. Children with Progeria need Physical Therapy (PT) and Occupational Therapy (OT) as often as ...

  9. Labor Market Progeria.

    Science.gov (United States)

    Rodeheaver, Dean

    1990-01-01

    Social ambivalence toward women's roles, sexuality, appearance, and aging combine with social standards of attractiveness to create both age and sex discrimination in the workplace. The life expectancy of presentability is shorter among women than men, thus creating an accelerated aging process termed labor market progeria. (SK)

  10. Defective DSB repair correlates with abnormal nuclear morphology and is improved with FTI treatment in Hutchinson-Gilford progeria syndrome fibroblasts

    Energy Technology Data Exchange (ETDEWEB)

    Constantinescu, Dan [Department of Cell Biology-Physiology, University of Pittsburgh, Pittsburgh, PA 15260 (United States); Pittsburgh Development Center, Magee-Women' s Research Institute, University of Pittsburgh, Pittsburgh, PA 15260 (United States); Csoka, Antonei B. [Division of Geriatrics, Department of Medicine, University of Pittsburgh Medical Center, Pittsburgh, PA 15260 (United States); Navara, Christopher S. [Division of Developmental and Regenerative Medicine, Department of Obstetrics, Gynecology, and Reproductive Sciences, University of Pittsburgh, Pittsburgh, PA 15260 (United States); Pittsburgh Development Center, Magee-Women' s Research Institute, University of Pittsburgh, Pittsburgh, PA 15260 (United States); Schatten, Gerald P., E-mail: schattengp@upmc.edu [Division of Developmental and Regenerative Medicine, Department of Obstetrics, Gynecology, and Reproductive Sciences, University of Pittsburgh, Pittsburgh, PA 15260 (United States); Department of Cell Biology-Physiology, University of Pittsburgh, Pittsburgh, PA 15260 (United States); Pittsburgh Development Center, Magee-Women' s Research Institute, University of Pittsburgh, Pittsburgh, PA 15260 (United States)

    2010-10-15

    Impaired DSB repair has been implicated as a molecular mechanism contributing to the accelerating aging phenotype in Hutchinson-Gilford progeria syndrome (HGPS), but neither the extent nor the cause of the repair deficiency has been fully elucidated. Here we perform a quantitative analysis of the steady-state number of DSBs and the repair kinetics of ionizing radiation (IR)-induced DSBs in HGPS cells. We report an elevated steady-state number of DSBs and impaired repair of IR-induced DSBs, both of which correlated strongly with abnormal nuclear morphology. We recreated the HGPS cellular phenotype in human coronary artery endothelial cells for the first time by lentiviral transduction of GFP-progerin, which also resulted in impaired repair of IR-induced DSBs, and which correlated with abnormal nuclear morphology. Farnesyl transferase inhibitor (FTI) treatment improved the repair of IR-induced DSBs, but only in HGPS cells whose nuclear morphology was also normalized. Interestingly, FTI treatment did not result in a statistically significant reduction in the higher steady-state number of DSBs. We also report a delay in localization of phospho-NBS1 and MRE11, MRN complex repair factors necessary for homologous recombination (HR) repair, to DSBs in HGPS cells. Our results demonstrate a correlation between nuclear structural abnormalities and the DSB repair defect, suggesting a mechanistic link that may involve delayed repair factor localization to DNA damage. Further, our results show that similar to other HGPS phenotypes, FTI treatment has a beneficial effect on DSB repair.

  11. Naïve adult stem cells from patients with Hutchinson-Gilford progeria syndrome express low levels of progerin in vivo

    Directory of Open Access Journals (Sweden)

    Vera Wenzel

    2012-04-01

    Hutchinson-Gilford progeria syndrome (HGPS, OMIM 176670 is a rare disorder characterized by segmental accelerated aging and early death from coronary artery disease or stroke. Nearly 90% of HGPS sufferers carry a G608G mutation within exon 11 of LMNA, producing a truncated form of prelamin A, referred to as “progerin”. Here, we report the isolation of naïve multipotent skin-derived precursor (SKP cells from dermal fibroblast cultures from HGPS donors. These cells form spheres and express the neural crest marker, nestin, in addition to the multipotent markers, OCT4, Sox2, Nanog and TG30; these cells can self-renew and differentiate into smooth muscle cells (SMCs and fibroblasts. The SMCs derived from the HGPS-SKPs accumulate nuclear progerin with increasing passages. A subset of the HGPS-naïve SKPs express progerin in vitro and in situ in HGPS skin sections. This is the first in vivo evidence that progerin is produced in adult stem cells, and implies that this protein could induce stem cells exhaustion as a mechanism contributing to aging. Our study provides a basis on which to explore therapeutic applications for HGPS stem cells and opens avenues for investigating the pathogenesis of other genetic diseases.

  12. The distribution of patients who seek treatment for the complaint of ejaculating prematurely according to the four premature ejaculation syndromes.

    Science.gov (United States)

    Serefoglu, Ege Can; Cimen, Haci Ibrahim; Atmaca, Ali Fuat; Balbay, M Derya

    2010-02-01

    In addition to "lifelong" and "acquired" premature ejaculation (PE) syndromes, two more PE syndromes have recently been proposed: "Natural variable PE" and "premature-like ejaculatory dysfunction." The purpose of this study was to analyze the prevalence of the four PE syndromes among patients who were admitted to a urology outpatient clinic with the complaint of ejaculating prematurely. Between July 2008 and March 2009, patients admitted to a urology outpatient clinic with a self-reported complaint of PE were enrolled into the study. After taking a careful medical and sexual history, patients were classified as "lifelong,"acquired,"natural variable," PE or "premature-like ejaculatory dysfunction." In addition to medical and sexual history, self-estimated intravaginal ejaculatory latency times (IELTs) of patients were used in the classification of patients. A total of 261 potent men with a mean age of 36.39 +/- 10.45 years (range 20-70) were recruited into the study. The majority of the men was diagnosed as having lifelong PE (62.5%); the remaining men were diagnosed as having acquired (16.1%), natural variable PE (14.5%), or premature-like ejaculatory disorder (6.9%). The mean age of patients with acquired PE was significantly higher than the other groups (P = 0.001). No significant difference was observed for educational status or income level of patients in the different PE groups (P = 0.983 and P = 0.151, respectively). The mean self-estimated IELT for all subjects was 65.16 +/- 83.75 seconds (2-420 seconds). Patients with lifelong PE had significantly lower mean self-reported IELT, whereas the patients with premature-like ejaculatory dysfunction had the highest mean IELT (P = 0.001): (i) life-long PE: 20.47 +/- 28.90 seconds (2-120 seconds); (ii) aquired PE: 57.91 +/- 38.72 seconds (90-180 seconds); (iii) natural variable PE: 144.17 +/- 22.47 seconds (120-180 seconds); and (iv) premature-like ejaculatory dysfunction: 286.67 +/- 69.96 seconds (180-420 seconds

  13. 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

    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

  14. Dermal fibroblasts in Hutchinson-Gilford progeria syndrome with the lamin A G608G mutation have dysmorphic nuclei and are hypersensitive to heat stress

    Directory of Open Access Journals (Sweden)

    Worman Howard J

    2005-06-01

    Full Text Available Abstract Background Hutchinson-Gilford progeria syndrome (HGPS, OMIM 176670 is a rare sporadic disorder with an incidence of approximately 1 per 8 million live births. The phenotypic appearance consists of short stature, sculptured nose, alopecia, prominent scalp veins, small face, loss of subcutaneous fat, faint mid-facial cyanosis, and dystrophic nails. HGPS is caused by mutations in LMNA, the gene that encodes nuclear lamins A and C. The most common mutation in subjects with HGPS is a de novo single-base pair substitution, G608G (GGC>GGT, within exon 11 of LMNA. This creates an abnormal splice donor site, leading to expression of a truncated protein. Results We studied a new case of a 5 year-old girl with HGPS and found a heterozygous point mutation, G608G, in LMNA. Complementary DNA sequencing of RNA showed that this mutation resulted in the deletion of 50 amino acids in the carboxyl-terminal tail domain of prelamin A. We characterized a primary dermal fibroblast cell line derived from the subject's skin. These cells expressed the mutant protein and exhibited a normal growth rate at early passage in primary culture but showed alterations in nuclear morphology. Expression levels and overall distributions of nuclear lamins and emerin, an integral protein of the inner nuclear membrane, were not dramatically altered. Ultrastructural analysis of the nuclear envelope using electron microscopy showed that chromatin is in close association to the nuclear lamina, even in areas with abnormal nuclear envelope morphology. The fibroblasts were hypersensitive to heat shock, and demonstrated a delayed response to heat stress. Conclusion Dermal fibroblasts from a subject with HGPS expressing a mutant truncated lamin A have dysmorphic nuclei, hypersensitivity to heat shock, and delayed response to heat stress. This suggests that the mutant protein, even when expressed at low levels, causes defective cell stability, which may be responsible for phenotypic

  15. Autophagic degradation of farnesylated prelamin A as a therapeutic approach to lamin-linked progeria

    Directory of Open Access Journals (Sweden)

    V. Cenni

    2011-10-01

    Full Text Available Farnesylated prelamin A is a processing intermediate produced in the lamin A maturation pathway. Accumulation of a truncated farnesylated prelamin A form, called progerin, is a hallmark of the severe premature ageing syndrome, Hutchinson-Gilford progeria. Progerin elicits toxic effects in cells, leading to chromatin damage and cellular senescence and ultimately causes skin and endothelial defects, bone resorption, lipodystrophy and accelerated ageing. Knowledge of the mechanism underlying prelamin A turnover is critical for the development of clinically effective protein inhibitors that can avoid accumulation to toxic levels without impairing lamin A/C expression, which is essential for normal biological functions. Little is known about specific molecules that may target farnesylated prelamin A to elicit protein degradation. Here, we report the discovery of rapamycin as a novel inhibitor of progerin, which dramatically and selectively decreases protein levels through a mechanism involving autophagic degradation. Rapamycin treatment of progeria cells lowers progerin, as well as wild-type prelamin A levels, and rescues the chromatin phenotype of cultured fibroblasts, including histone methylation status and BAF and LAP2alpha distribution patterns. Importantly, rapamycin treatment does not affect lamin C protein levels, but increases the relative expression of the prelamin A endoprotease ZMPSTE24. Thus, rapamycin, an antibiotic belonging to the class of macrolides, previously found to increase longevity in mouse models, can serve as a therapeutic tool, to eliminate progerin, avoid farnesylated prelamin A accumulation, and restore chromatin dynamics in progeroid laminopathies.

  16. Prenatal Lung Morphogenesis and Prerequisites for the Development of Respiratory Distress Syndrome in Premature Neonates

    Directory of Open Access Journals (Sweden)

    S. A. Perepelitsa

    2010-01-01

    Full Text Available This paper gives information on intrauterine lung development in health and under poor conditions influencing the prenatal morphogenesis of lung tissue: threatening miscarriage, gestosis in the first and second halves of pregnancy, and placental insufficiency. It considers the development of the lung depending on fetal gender and a season. Key words: premature delivery, prenatal lung morphogenesis, premature neonates, surfactant, respiratory distress syndrome.

  17. Choice of Artificial Ventilation Mode in Premature Neonates with Respiratory Distress Syndrome

    OpenAIRE

    S. A. Perepelitsa; Golubev, A M; V. V. Moroz

    2010-01-01

    Objective: to choose an artificial ventilation (AV) mode in premature neonates with respiratory distress syndrome (RDS) after administration of exogenous surfactants and to compare the duration of AV and the development of complications in relation to the type of an exogenous surfactant. Subjects and methods. The paper presents the results of choosing an AV mode in 122 premature neonates with severe RDS. The choice of an AV mode, the duration of respiratory therapy, and the development of com...

  18. 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

  19. 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.

  20. 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.

  1. Choice of Artificial Ventilation Mode in Premature Neonates with Respiratory Distress Syndrome

    Directory of Open Access Journals (Sweden)

    S. A. Perepelitsa

    2010-01-01

    Full Text Available Objective: to choose an artificial ventilation (AV mode in premature neonates with respiratory distress syndrome (RDS after administration of exogenous surfactants and to compare the duration of AV and the development of complications in relation to the type of an exogenous surfactant. Subjects and methods. The paper presents the results of choosing an AV mode in 122 premature neonates with severe RDS. The choice of an AV mode, the duration of respiratory therapy, and the development of complications after administration of exogenous surfactants were studied. The neonatal infants were divided into 2 groups: 1 55 neonates who were given Surfactant BL in the complex therapy of RDS; 2 67 neonates who received Curosurf. Results. The study has demonstrated that the initial mode of ventilation (completely controlled assisted or positive end expiratory pressure may be chosen after administration of Curosurf depending on the clinical picture of remaining respiratory failure. This policy makes it possible to preserve spontaneous breath in 29.3% of cases and to considerably reduce the duration of respiratory therapy. When Surfactant BL is used, only one initial AV mode (completely controlled ventilation may be chosen according to the manufacturer’s guidelines as drug-induced cessation of spontaneous breathing is required. Nevertheless, the administration of Surfactant BL also facilitates recovery of effective spontaneous breathing in most neonates with RDS. Conclusion. The use of the exogenous surfactants enables the AV modes with preserved spontaneous breathing to be employed, which reduces the duration of AV and the number of complications. Key words: respiratory distress syndrome, premature neonates, Curosurf, Surfactant BL, artificial ventilation modes.

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

    Science.gov (United States)

    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. [Hutchinson-Gilford progeria. A rare case of neonatal occurrence].

    Science.gov (United States)

    Zucchini, A; Bonfiglioli, G; Masignà Ricciardi, M G

    1986-01-01

    A case of Hutchinson-Gilford progeria syndrome is described in which phenotypic and metabolic symptoms were already evident at birth. Both under a clinical and autopsy point of view an early old age of organs and apparatuses was apparent, posing the problem of the reason why an early old aging occurs. The authors mention literature in favour of a genetic control of cellular aging and make the assumption that the genes controlling old age are various and that a greater or lesser presence and incidence of them could justify the earlier or normal appearance of this status.

  4. From the rarest to the most common: insights from progeroid syndromes into skin cancer and aging.

    Science.gov (United States)

    Capell, Brian C; Tlougan, Brook E; Orlow, Seth J

    2009-10-01

    Despite their rarity, diseases of premature aging, or "progeroid" syndromes, have provided important insights into basic mechanisms that may underlie cancer and normal aging. In this review, we highlight these recent developments in Hutchinson-Gilford progeria syndrome (HGPS), Werner syndrome, Bloom syndrome, Cockayne syndrome, trichothiodystrophy, ataxia-telangiectasia, Rothmund-Thomson syndrome, and xeroderma pigmentosum. Though they are caused by different mutations in various genes and often result in quite disparate phenotypes, deciphering the molecular bases of these conditions has served to highlight their underlying basic similarities. Studies of progeroid syndromes, particularly HGPS, the most dramatic form of premature aging, have contributed to our knowledge of fundamental processes of importance to skin biology, including DNA transcription, replication, and repair, genome instability, cellular senescence, and stem-cell differentiation.

  5. Progeria caused by a rare LMNA mutation p.S143F associated with mild myopathy and atrial fibrillation.

    Science.gov (United States)

    Madej-Pilarczyk, Agnieszka; Kmieć, Tomasz; Fidziańska, Anna; Rekawek, Joanna; Niebrój-Dobosz, Irena; Turska-Kmieć, Anna; Nestorowicz, Klaudia; Jóźwiak, Sergiusz; Hausmanowa-Petrusewicz, Irena

    2008-09-01

    We present a 6-year-old girl with premature aging associated with mild myopathy, displaying muscle weakness, joint contractures and hyporeflexia. Genetic analysis revealed rare heterozygous point mutation in lamin A/C gene, g.428C>T. Cardiological evaluation showed atrial fibrillation, but we did not find signs of coronary heart disease, which is life-threatening cardiovascular complication in progeria. Electron microscopy of the muscle revealed abnormalities in nuclear architecture, i.e. blebbing, thick lamina and peripheral distribution of heterochromatin. As some diagnostic criteria characteristic for classic progeria are not fulfilled, this case could be regarded as atypical progeria associated with myopathy and atrial fibrillation. To our knowledge, this is the second case of such association described in the literature.

  6. The Specific Features of Artificial Ventilation in Premature Neonates with Acute Respiratory Distress Syndrome

    Directory of Open Access Journals (Sweden)

    S. A. Perepelitsa

    2010-01-01

    Full Text Available Objective: to evaluate the efficiency of artificial ventilation (AV after administration of the exogenous surfactants Curosurf and Surfactant BL in premature neonates with respiratory distress syndrome (RSD. Subjects and methods. The paper presents the results of evaluation of the efficiency of therapy with exogenous surfactants, by examining the blood gas composition and AV parameters. The study included 122 premature neonates with severe RSD. According to the type of a used surfactant, two groups of neonates were identified: Group 1 comprised 67 neonates who were given Curosurf and Group 2 consisted of 55 neonates who had Surfactant BL. Results. The study has revealed some differences between the drugs. Four hours after administration of Curosurf, the neonates with RSD showed heterodirectional changes in partial blood oxygen tension; no abnormal changes in this index were found in most neonates; however, hyperoxia or hypoxia appeared in some newborn infants. After administration of Surfactant BL, no hyperoxia was virtually detected. Hyperoxia did not depend on the baseline oxygen fraction in the inspired gas mixture in most cases. The found changes were transient. To choose ventilation parameters was based on an attempt to bring partial blood oxygen tension closer to the normal values. The main task of the treatment was achieved: this was to carry out sparing AV in premature neonates, allowing no mechanical injury to the immature lung or ventilation complications. Conclusion. pO2 variability after administration of exogenous surfactants calls for a considerate attitude to the choice of AV parameters and an individual approach to a patient. The specific features of the pharmacological action of exogenous surfactants should be taken into account when they are used. In this connection, blood gas composition should be frequently investigated – particularly within the first 24 hours after administration of the agents in order to timely modify AV

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

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    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.

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

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    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. Animal-derived surfactant treatment of respiratory distress syndrome in premature neonates: a review.

    Science.gov (United States)

    Fujii, Alan M; Carillo, Marie

    2009-09-01

    Exogenous surfactant treatment of premature infants with respiratory distress syndrome (RDS) has been the standard of care for the past two decades. There are many studies comparing various surfactant preparations. Data are clear that the synthetic surfactants without surfactant proteins are inferior to animal-derived surfactant preparations. Less compelling are the data regarding the relative efficacy of the various animal-derived surfactants available, but a pattern has evolved favoring surfactant preparations with higher concentrations of phospholipids and surfactant proteins. A higher initial dose of phospholipids may also be important, especially for preterm infants less than 32 weeks of gestation. Development has begun of new synthetic surfactants with surfactant protein analogs or recombinant surfactant proteins, which are not yet available in the United States. Synthetic surfactants hold the possibility of surfactant treatments without potential animal-born infectious agents or animal proteins that could induce an immune response in fragile premature infants with multiple medical problems. The goal of this review is to assess the comparison of available animal-derived surfactants and what is known of their comparison. with the newer synthetic surfactants. In addition, the possible direct and indirect effects of surfactant administration on regional blood flow are discussed, with their potential relationship to the volume of surfactant administered.

  10. Excess psychosocial burden in women with diabetes and premature acute coronary syndrome.

    Science.gov (United States)

    Peters, T M; Pelletier, R; Behlouli, H; Rossi, A M; Pilote, L

    2017-11-01

    Diabetes is a stronger risk factor for acute coronary syndrome for women than men. We investigate whether behavioural and psychosocial factors contribute to the disparity in acute coronary syndrome risk and outcomes among women with diabetes relative to women without diabetes and men. Among 939 participants in the GENESIS-PRAXY cohort study of premature acute coronary syndrome (age ≤ 55 years), we compared the prevalence of traditional and non-traditional factors by sex and Type 2 diabetes status. In a case-only analysis, we used generalized logit models to investigate the influence of traditional and non-traditional factors on the interaction of sex and diabetes. In 287 women (14.3% with diabetes) and 652 men (10.4% with diabetes), women and men with diabetes showed a heavier burden of traditional cardiac risk factors compared with individuals without diabetes. Women with diabetes were more likely to be the primary earner and have more anxiety relative to women without diabetes, and reported worse perceived health compared with women without diabetes and men with diabetes. The interaction term for sex and diabetes (odds ratio (OR) 1.40, 95% confidence intervals (95% CI) 0.83-2.36) was diminished after additional adjustment for non-traditional factors (OR 1.12, 95% CI 0.54-2.32), but not traditional factors alone (OR 1.41, 95% CI 0.84-2.36). We observed trends toward a more adverse psychosocial profile among women with diabetes and incident acute coronary syndrome compared with women without diabetes and men with diabetes, which may explain the increased risk of acute coronary syndrome in women with diabetes and may also contribute to worse outcomes. © 2017 Diabetes UK.

  11. Evidence for premature aging due to oxidative stress in iPSCs from Cockayne syndrome.

    Science.gov (United States)

    Andrade, Luciana Nogueira de Sousa; Nathanson, Jason L; Yeo, Gene W; Menck, Carlos Frederico Martins; Muotri, Alysson Renato

    2012-09-01

    Cockayne syndrome (CS) is a human premature aging disorder associated with neurological and developmental abnormalities, caused by mutations mainly in the CS group B gene (ERCC6). At the molecular level, CS is characterized by a deficiency in the transcription-couple DNA repair pathway. To understand the role of this molecular pathway in a pluripotent cell and the impact of CSB mutation during human cellular development, we generated induced pluripotent stem cells (iPSCs) from CSB skin fibroblasts (CSB-iPSC). Here, we showed that the lack of functional CSB does not represent a barrier to genetic reprogramming. However, iPSCs derived from CSB patient's fibroblasts exhibited elevated cell death rate and higher reactive oxygen species (ROS) production. Moreover, these cellular phenotypes were accompanied by an up-regulation of TXNIP and TP53 transcriptional expression. Our findings suggest that CSB modulates cell viability in pluripotent stem cells, regulating the expression of TP53 and TXNIP and ROS production.

  12. Progeria

    Science.gov (United States)

    ... urac.org). URAC's accreditation program is an independent audit to verify that A.D.A.M. follows ... the principles of the Health on the Net Foundation (www.hon.ch). The information provided herein should ...

  13. Comparison of components of metabolic syndrome in premature myocardial infarction in an Iranian population: a case -control study.

    Science.gov (United States)

    Kazemi, Toba; Sharifzadeh, Gholamreza; Zarban, Asghar; Fesharakinia, Azita

    2013-01-01

    Metabolic syndrome is a major risk factor for coronary artery disease (CAD). Aim of this study was to determine the prevalence of metabolic syndrome in patients with premature myocardial infarction (before 50 years of age). In this case-control study, we compared 98 consecutive patients who were hospitalized in Birjand with acute first myocardial infarction before the age of 50 years and 98 age- and sex-matched healthy controls without a history of coronary artery disease. The case and control groups were categorized according to the National Cholesterol Education Program Adult Treatment Panel (NCEP ATP III) metabolic syndrome criteria [presence of ≥3 of the following: Fasting blood glucose ≥100 mg/dL, triglyceride (TG) level ≥150 mg/dL, low high density lipoprotein (HDL; 102 cm in men or 88 cm in women]. The data were collected and analyzed by t-test, χ(2), and logistic regression in SPSS software 11.5. Prevalence of metabolic syndrome was significantly higher in cases than in control group (34.7% in cases, 16.3% in controls, P=0.003). All components of metabolic syndrome except high waist circumstance in the cases group were significantly higher than in control. The most common component of metabolic syndrome was high TG and the least common component was low HDL. We conclude that prevalence of metabolic syndrome in patients with premature myocardial infarction is high; high TG is the most common component of metabolic syndrome.

  14. Nucleolar expansion and elevated protein translation in premature aging.

    Science.gov (United States)

    Buchwalter, Abigail; Hetzer, Martin W

    2017-08-30

    Premature aging disorders provide an opportunity to study the mechanisms that drive aging. In Hutchinson-Gilford progeria syndrome (HGPS), a mutant form of the nuclear scaffold protein lamin A distorts nuclei and sequesters nuclear proteins. We sought to investigate protein homeostasis in this disease. Here, we report a widespread increase in protein turnover in HGPS-derived cells compared to normal cells. We determine that global protein synthesis is elevated as a consequence of activated nucleoli and enhanced ribosome biogenesis in HGPS-derived fibroblasts. Depleting normal lamin A or inducing mutant lamin A expression are each sufficient to drive nucleolar expansion. We further show that nucleolar size correlates with donor age in primary fibroblasts derived from healthy individuals and that ribosomal RNA production increases with age, indicating that nucleolar size and activity can serve as aging biomarkers. While limiting ribosome biogenesis extends lifespan in several systems, we show that increased ribosome biogenesis and activity are a hallmark of premature aging.HGPS is a premature aging disease caused by mutations in the nuclear protein lamin A. Here, the authors show that cells from patients with HGPS have expanded nucleoli and increased protein synthesis, and report that nucleoli also expand as aging progresses in cells derived from healthy individuals.

  15. A farnesyltransferase inhibitor prevents both the onset and late progression of cardiovascular disease in a progeria mouse model.

    Science.gov (United States)

    Capell, Brian C; Olive, Michelle; Erdos, Michael R; Cao, Kan; Faddah, Dina A; Tavarez, Urraca L; Conneely, Karen N; Qu, Xuan; San, Hong; Ganesh, Santhi K; Chen, Xiaoyan; Avallone, Hedwig; Kolodgie, Frank D; Virmani, Renu; Nabel, Elizabeth G; Collins, Francis S

    2008-10-14

    Hutchinson-Gilford progeria syndrome (HGPS) is the most dramatic form of human premature aging. Death occurs at a mean age of 13 years, usually from heart attack or stroke. Almost all cases of HGPS are caused by a de novo point mutation in the lamin A (LMNA) gene that results in production of a mutant lamin A protein termed progerin. This protein is permanently modified by a lipid farnesyl group, and acts as a dominant negative, disrupting nuclear structure. Treatment with farnesyltransferase inhibitors (FTIs) has been shown to prevent and even reverse this nuclear abnormality in cultured HGPS fibroblasts. We have previously created a mouse model of HGPS that shows progressive loss of vascular smooth muscle cells in the media of the large arteries, in a pattern that is strikingly similar to the cardiovascular disease seen in patients with HGPS. Here we show that the dose-dependent administration of the FTI tipifarnib (R115777, Zarnestra) to this HGPS mouse model can significantly prevent both the onset of the cardiovascular phenotype as well as the late progression of existing cardiovascular disease. These observations provide encouraging evidence for the current clinical trial of FTIs for this rare and devastating disease.

  16. Progeria Research Foundation Diagnostic Testing Program

    Science.gov (United States)

    ... scientific test to definitively diagnose children with Progeria. What is the Gene for HGPS? The gene responsible for HGPS is called LMNA (pronounced Lamin A). Within this gene there is a change in one element of DNA. This type of gene change is ...

  17. Prematurity and sudden infant death syndrome: United States 2005-2007.

    Science.gov (United States)

    Malloy, M H

    2013-06-01

    In 1987, the sudden infant death syndrome (SIDS) rate in the United States was 1.2 per 1000 live births. By the year 2005, the SIDS rate had dropped more than half to approximately 0.5 per 1000 live births. In 1987, the risk of SIDS was 2.32 times greater for extremely premature infants compared with term infants. The objective of this analysis was to determine if with the falling SIDS rate there has been a change in the risk for SIDS among preterm infants. Data were obtained from the United States Linked Infant Birth and Death Certificate Public User Period files for the years 2005 to 2007. The adjusted odds ratios (ORs) for postneonatal out-of-hospital death by gestational age were determined by logistic regression modeling. Over the 3-year period, there were 5203 postneonatal out-of-hospital deaths attributable to SIDS; 2010 attributable to other sudden deaths; 1270 attributable to suffocation in bed; and 3681 attributable to other causes. The adjusted OR for SIDS among the most preterm infants (24 to 28 weeks gestation) was significantly increased compared with term infants, OR(adj)=2.57 (95% confidence interval=2.08, 3.17), as were the adjusted ORs for the other causes of sudden infant death. Despite the marked drop in the incidence of SIDS since 1987, the risk for SIDS among preterm infants remains elevated. Other causes of sudden infant death for which SIDS is often mistaken reflect similar levels of increased risk among preterm infants.

  18. Altered splicing in prelamin A-associated premature aging phenotypes.

    Science.gov (United States)

    De Sandre-Giovannoli, Annachiara; Lévy, Nicolas

    2006-01-01

    Hutchinson-Gilford progeria (HGPS), a rare and severe developmental disorder characterized by features recalling premature aging, and restrictive dermopathy (RD), a neonatal lethal genodermatosis, have recently been identified as being primary or secondary "laminopathies." These are heterogeneous disorders due to altered function of lamins A/C or related proteins. In physiological conditions, mature lamin A is obtained through a series of post-translational processing steps performed on a protein precursor, prelamin A. The major pathophysiological mechanism involved in progeria is an aberrant splicing of pre-mRNAs issued from the LMNA gene, due to a de novo heterozygous point mutation, leading to the production and accumulation of truncated lamin A precursors. Aberrant splicing of prelamin A pre-mRNAs causing the production of more extensively truncated precursors is involved in the allelic disease restrictive dermopathy. Other restrictive dermopathy cases are due to the inactivation of a key enzyme involved in the maturation of lamin A precursors (ZMPSTE24). In functional terms, all these conditions share the same pathophysiological basis: intranuclear accumulation of lamin A precursors, which cannot be fully processed (due to primary or secondary events) and exert toxic, dominant negative effects on nuclear homeostasis. Most other laminopathies are due to autosomal dominant LMNA point mutations inferred to cause single amino acid substitutions. In any case, the impact of these mutations on pre-mRNA splicing has rarely been assessed. These disorders affect different tissues and organs, mainly including bone, skin, striated muscles, adipose tissue, vessels, and peripheral nerves in isolated or combined fashions, giving rise to syndromes whose severity ranges from mild to perinatally lethal. In this chapter we review the structure and functions of lamins A/C in physiological and pathological conditions, describe their known or putative roles, namely, in the

  19. Novel LMNA mutations cause an aggressive atypical neonatal progeria without progerin accumulation.

    Science.gov (United States)

    Soria-Valles, Clara; Carrero, Dido; Gabau, Elisabeth; Velasco, Gloria; Quesada, Víctor; Bárcena, Clea; Moens, Marleen; Fieggen, Karen; Möhrcken, Silvia; Owens, Martina; Puente, Diana A; Asensio, Óscar; Loeys, Bart; Pérez, Ana; Benoit, Valerie; Wuyts, Wim; Lévy, Nicolas; Hennekam, Raoul C; De Sandre-Giovannoli, Annachiara; López-Otín, Carlos

    2016-06-22

    Progeroid syndromes are genetic disorders that recapitulate some phenotypes of physiological ageing. Classical progerias, such as Hutchinson-Gilford progeria syndrome (HGPS), are generally caused by mutations in LMNA leading to accumulation of the toxic protein progerin and consequently, to nuclear envelope alterations. In this work, we describe a novel phenotypic feature of the progeria spectrum affecting three unrelated newborns and identify its genetic cause. Patients reported herein present an extremely homogeneous phenotype that somewhat recapitulates those of patients with HGPS and mandibuloacral dysplasia. However, pathological signs appear earlier, are more aggressive and present distinctive features including episodes of severe upper airway obstruction. Exome and Sanger sequencing allowed the identification of heterozygous de novo c.163G>A, p.E55K and c.164A>G, p.E55G mutations in LMNA as the alterations responsible for this disorder. Functional analyses demonstrated that fibroblasts from these patients suffer important dysfunctions in nuclear lamina, which generate profound nuclear envelope abnormalities but without progerin accumulation. These nuclear alterations found in patients' dermal fibroblasts were also induced by ectopic expression of the corresponding site-specific LMNA mutants in control human fibroblasts. Our results demonstrate the causal role of p.E55K and p.E55G lamin A mutations in a disorder which manifests novel phenotypic features of the progeria spectrum characterised by neonatal presentation and aggressive clinical evolution, despite being caused by lamin A/C missense mutations with effective prelamin A processing. 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. A multicenter, randomized, double-blind trial of a new porcine surfactant in premature infants with respiratory distress syndrome.

    Science.gov (United States)

    Rebello, Celso Moura; Precioso, Alexander Roberto; Mascaretti, Renata Suman

    2014-01-01

    To compare the efficacy and safety of a new porcine-derived pulmonary surfactant developed by Instituto Butantan with those of animal-derived surfactants commercially available in Brazil, regarding neonatal mortality and the major complications of prematurity in preterm newborns with birth weight up to 1500g and diagnosed with respiratory distress syndrome. Neonates diagnosed with respiratory distress syndrome were randomized to receive either Butantan surfactant (Butantan group) or one of the following surfactants: Survanta® or Curosurf®. Newborns receiving Survanta® or Curosurf® comprised the control group. The main outcome measures were mortality rates at 72 hours and at 28 days of life; the typical complications of prematurity as evaluated on the 28th day of life were defined as secundary outcomes. No differences were observed between the Butantan (n=154) and control (n=173) groups in relation to birth weight, gestational age, sex, and prenatal use of corticosteroids, or in mortality rates both at 72 hours (14.19% versus 14.12%; p=0.98) and at 28 days (39.86% versus 33.33%; p=0.24) of life. Higher 1- and 5-minute Apgar scores were observed among control group newborns. No differences were observed as regards the secondary outcomes, except for greater need for supplemental oxygen and a higher incidence of interstitial pulmonary emphysema in the Butantan group. The mortality rates at 72 hours and 28 days of life and the incidence of major complications of prematurity were comparable to those found with the animal-derived surfactants commercially available in Brazil, showing the efficacy and safety of the new surfactant in the treatment of respiratory distress syndrome in newborns.

  1. Wiedemann-Rautenstrauch (neonatal progeroid) syndrome: new case with normal telomere length in skin fibroblasts.

    Science.gov (United States)

    Korniszewski, L; Nowak, R; Oknińska-Hoffmann, E; Skórka, A; Gieruszczak-Białek, D; Sawadro-Rochowska, M

    2001-10-01

    Wiedemann-Rautenstrauch (neonatal progeroid) syndrome is an autosomal recessive condition with characteristic appearance of premature aging present at birth (aged face, natal teeth, and wrinkled skin). Other features of the syndrome are generalized lipoatrophy with specific fat accumulation in the lateral suprabuttock region, hypotrichosis, macrocephaly (pseudohydrocephalus), and mental retardation. We report on a new case that demonstrates all typical features of the syndrome. The girl is now 16 years and 10 months old and has had follow-up from birth. We measured terminal restriction fragment (TRF) length to evaluate whether the patient's premature aging process is accompanied by shortening of telomere length in her cultured fibroblasts. Mean TRF of 13.5 kb found in our patient's fibroblasts is not shortened as compared to that of normal fibroblasts. Our results differ from those observed in Hutchinson-Gilford progeria. Copyright 2001 Wiley-Liss, Inc.

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

    Directory of Open Access Journals (Sweden)

    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.

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

    Directory of Open Access Journals (Sweden)

    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.

  4. 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.

  5. 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 H 2 O 2 Equiv./L) compared to the preterm infants without PPROM or FIRS (11.9 μmol H 2 O 2 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.

  6. 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 ...

  7. The Potential of iPSCs for the Treatment of Premature Aging Disorders

    Directory of Open Access Journals (Sweden)

    Claudia Compagnucci

    2017-11-01

    Full Text Available Premature aging disorders including Hutchinson-Gilford progeria syndrome (HGPS and Werner syndrome, are a group of rare monogenic diseases leading to reduced lifespan of the patients. Importantly, these disorders mimic several features of physiological aging. Despite the interest on the study of these diseases, the underlying biological mechanisms remain unknown and no treatment is available. Recent studies on HGPS (due to mutations of the LMNA gene encoding for the nucleoskeletal proteins lamin A/C have reported disruptions in cellular and molecular mechanisms modulating genomic stability and stem cell populations, thus giving the nuclear lamina a relevant function in nuclear organization, epigenetic regulation and in the maintenance of the stem cell pool. In this context, modeling premature aging with induced pluripotent stem cells (iPSCs offers the possibility to study these disorders during self-renewal and differentiation into relevant cell types. iPSCs generated by cellular reprogramming from adult somatic cells allows researchers to understand pathophysiological mechanisms and enables the performance of drug screenings. Moreover, the recent development of precision genome editing offers the possibility to study the complex mechanisms underlying senescence and the possibility to correct disease phenotypes, paving the way for future therapeutic interventions.

  8. Decreased repair of gamma damaged DNA in progeria

    Energy Technology Data Exchange (ETDEWEB)

    Rainbow, A.J.; Howes, M.

    1977-01-01

    A sensitive host-cell reactivation technique was used to examine the DNA repair ability of fibroblasts from two patients with classical progeria. Fibroblasts were infected with either non-irradiated or gamma-irradiated adenovirus type 2 and at 48 hrs after infection cells were examined for the presence of viral structural antigens using immunofluorescent staining. The production of viral structural antigens was considerably reduced in the progeria lines as compared to normal fibroblasts when gamma-irradiated virus was used, indicating a defect in the repair of gamma ray damaged DNA in the progeria cells.

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

    Directory of Open Access Journals (Sweden)

    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.

  10. 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.

  11. Risk factors affecting school readiness in premature infants with respiratory distress syndrome.

    Science.gov (United States)

    Patrianakos-Hoobler, Athena I; Msall, Michael E; Marks, Jeremy D; Huo, Dezheng; Schreiber, Michael D

    2009-07-01

    With advances in neonatal care, more children born prematurely are successfully reaching school age. It is unknown how many will be ready for school and what factors affect school readiness. Our objective was to assess readiness of children born prematurely for entry into public school, and determine risk factors associated with lack of school readiness in this population. This was a single-center prospective cohort study. Follow- up data were collected for 135 of 167 (81%) surviving premature infants with RDS requiring surfactant-replacement therapy. The children were seen between July 2005 and September 2006 (average age: 5.7 +/- 1.0 years) and underwent standardized neurodevelopmental and health assessments and socioeconomic status classification. A 4-level school-readiness score was constructed by using each child's standardized scores on assessments of basic concepts (Bracken School-Readiness Assessment), perceptual skills (Visual-Motor Integration Test), receptive vocabulary (Peabody Picture Vocabulary Test, Third Edition), daily living functional skills (Pediatric Functional Independence Measure), and presence of sensory impairments or autism. Proportional odds models were used to identify risk factors predicting lower school-readiness levels. Mean birth weight was 1016 +/- 391 g, and mean gestational age was 27.5 +/- 2.6 weeks. Ninety-one (67%) children were school-ready. Using multivariate analysis, male gender, chronic lung disease, and severe intraventricular hemorrhage or periventricular leukomalacia were associated with lower school-readiness levels. However, the most powerful factor determining school-readiness level was low socioeconomic status. Interventions targeting neonatal morbidities may be much less effective at improving overall performance at school age compared with the effect of the impoverished social environment.

  12. 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

  13. Computational Exploration for Lead Compounds That Can Reverse the Nuclear Morphology in Progeria

    Directory of Open Access Journals (Sweden)

    Shailima Rampogu

    2017-01-01

    Full Text Available Progeria is a rare genetic disorder characterized by premature aging that eventually leads to death and is noticed globally. Despite alarming conditions, this disease lacks effective medications; however, the farnesyltransferase inhibitors (FTIs are a hope in the dark. Therefore, the objective of the present article is to identify new compounds from the databases employing pharmacophore based virtual screening. Utilizing nine training set compounds along with lonafarnib, a common feature pharmacophore was constructed consisting of four features. The validated Hypo1 was subsequently allowed to screen Maybridge, Chembridge, and Asinex databases to retrieve the novel lead candidates, which were then subjected to Lipinski’s rule of 5 and ADMET for drug-like assessment. The obtained 3,372 compounds were forwarded to docking simulations and were manually examined for the key interactions with the crucial residues. Two compounds that have demonstrated a higher dock score than the reference compounds and showed interactions with the crucial residues were subjected to MD simulations and binding free energy calculations to assess the stability of docked conformation and to investigate the binding interactions in detail. Furthermore, this study suggests that the Hits may be more effective against progeria and further the DFT studies were executed to understand their orbital energies.

  14. Hallmarks of progeroid syndromes: lessons from mice and reprogrammed cells

    Directory of Open Access Journals (Sweden)

    Dido Carrero

    2016-07-01

    Full Text Available Ageing is a process that inevitably affects most living organisms and involves the accumulation of macromolecular damage, genomic instability and loss of heterochromatin. Together, these alterations lead to a decline in stem cell function and to a reduced capability to regenerate tissue. In recent years, several genetic pathways and biochemical mechanisms that contribute to physiological ageing have been described, but further research is needed to better characterize this complex biological process. Because premature ageing (progeroid syndromes, including progeria, mimic many of the characteristics of human ageing, research into these conditions has proven to be very useful not only to identify the underlying causal mechanisms and identify treatments for these pathologies, but also for the study of physiological ageing. In this Review, we summarize the main cellular and animal models used in progeria research, with an emphasis on patient-derived induced pluripotent stem cell models, and define a series of molecular and cellular hallmarks that characterize progeroid syndromes and parallel physiological ageing. Finally, we describe the therapeutic strategies being investigated for the treatment of progeroid syndromes, and their main limitations.

  15. Epigenomic maintenance through dietary intervention can facilitate DNA repair process to slow down the progress of premature aging.

    Science.gov (United States)

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

    2016-09-01

    DNA damage caused by various sources remains one of the most researched topics in the area of aging and neurodegeneration. Increased DNA damage causes premature aging. Aging is plastic and is characterised by the decline in the ability of a cell/organism to maintain genomic stability. Lifespan can be modulated by various interventions like calorie restriction, a balanced diet of macro and micronutrients or supplementation with nutrients/nutrient formulations such as Amalaki rasayana, docosahexaenoic acid, resveratrol, curcumin, etc. Increased levels of DNA damage in the form of double stranded and single stranded breaks are associated with decreased longevity in animal models like WNIN/Ob obese rats. Erroneous DNA repair can result in accumulation of DNA damage products, which in turn result in premature aging disorders such as Hutchinson-Gilford progeria syndrome. Epigenomic studies of the aging process have opened a completely new arena for research and development of drugs and therapeutic agents. We propose here that agents or interventions that can maintain epigenomic stability and facilitate the DNA repair process can slow down the progress of premature aging, if not completely prevent it. © 2016 IUBMB Life, 68(9):717-721, 2016. © 2016 International Union of Biochemistry and Molecular Biology.

  16. Association Between Family History, a Genetic Risk Score, and Severity of Coronary Artery Disease in Patients With Premature Acute Coronary Syndromes.

    Science.gov (United States)

    Hindieh, Waseem; Pilote, Louise; Cheema, Asim; Al-Lawati, Hatim; Labos, Christopher; Dufresne, Line; Engert, James C; Thanassoulis, George

    2016-06-01

    A genetic risk score (GRS) for coronary artery disease has recently been shown to be independent of family history (FHx) in predicting future cardiovascular events. We sought to determine whether the presence of these risk factors, either individually or together, was associated with a higher burden of angiographic coronary artery disease. We included 763 patients with premature acute coronary syndrome (median age, 50 [46-53] years; 30.8% women) with at least 1 major epicardial vessel stenosis enrolled in the Gender and Sex Determinants of Cardiovascular Disease From Bench to Beyond in Premature Acute Coronary Syndrome (GENESIS-PRAXY) study, a multicentre prospective cohort study of premature patients with acute coronary syndrome (aged ≤55 years). The prevalence of multivessel disease (ie, ≥2 vessels with >50% stenosis) in individuals with FHx was 49.7% as compared with 37.9% in those without FHx (Pprevalence of 3-vessel disease (odds ratio [OR], 1.42; 95% confidence interval, 0.91-2.21; P=0.12 for 2-vessel disease and OR, 2.26; 95% confidence interval, 1.29-3.95; P=0.005 for 3-vessel disease). Individuals with a high GRS were also more likely to have multivessel disease (OR, 1.41; 95% confidence interval, 1.01-1.99; P=0.047) after adjustment for traditional risk factors, including FHx. Individuals with both a FHx and a high GRS as compared with those with neither had the highest ORs for multivessel disease (adjusted OR, 2.14; 95% confidence interval, 1.24-3.69; P=0.0064). In patients with premature acute coronary syndrome, the presence of either a high GRS or FHx is associated with greater severity of coronary artery disease at angiography. Whether preventive strategies targeted to genetically predisposed individuals will reduce the burden of early acute coronary syndrome warrants further study. © 2016 American Heart Association, Inc.

  17. 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 ...

  18. Premature menopause.

    Science.gov (United States)

    Okeke, Tc; Anyaehie, Ub; Ezenyeaku, Cc

    2013-01-01

    Premature menopause affects 1% of women under the age of 40 years. The women are at risk of premature death, neurological diseases, psychosexual dysfunction, mood disorders, osteoporosis, ischemic heart disease and infertility. There is need to use simplified protocols and improved techniques in oocyte donation to achieve pregnancy and mother a baby in those women at risk. Review of the pertinent literature on premature menopause, selected references, internet services using the PubMed and Medline databases were included in this review. In the past, pregnancy in women with premature menopause was rare but with recent advancement in oocyte donation, women with premature menopause now have hoped to mother a child. Hormone replacement therapy is beneficial to adverse consequences of premature menopause. Women with premature menopause are at risk of premature death, neurological diseases, psychosexual dysfunction, mood disorders, osteoporosis, ischemic heart disease and infertility. Public enlightenment and education is important tool to save those at risk.

  19. A high-fat diet and NAD(+) activate Sirt1 to rescue premature aging in cockayne syndrome.

    Science.gov (United States)

    Scheibye-Knudsen, Morten; Mitchell, Sarah J; Fang, Evandro F; Iyama, Teruaki; Ward, Theresa; Wang, James; Dunn, Christopher A; Singh, Nagendra; Veith, Sebastian; Hasan-Olive, Md Mahdi; Mangerich, Aswin; Wilson, Mark A; Mattson, Mark P; Bergersen, Linda H; Cogger, Victoria C; Warren, Alessandra; Le Couteur, David G; Moaddel, Ruin; Wilson, David M; Croteau, Deborah L; de Cabo, Rafael; Bohr, Vilhelm A

    2014-11-04

    Cockayne syndrome (CS) is an accelerated aging disorder characterized by progressive neurodegeneration caused by mutations in genes encoding the DNA repair proteins CS group A or B (CSA or CSB). Since dietary interventions can alter neurodegenerative processes, Csb(m/m) mice were given a high-fat, caloric-restricted, or resveratrol-supplemented diet. High-fat feeding rescued the metabolic, transcriptomic, and behavioral phenotypes of Csb(m/m) mice. Furthermore, premature aging in CS mice, nematodes, and human cells results from aberrant PARP activation due to deficient DNA repair leading to decreased 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. Copyright © 2014 Elsevier Inc. All rights reserved.

  20. Whole exome sequencing implicates an INO80D mutation in a syndrome of aortic hypoplasia, premature atherosclerosis, and arterial stiffness.

    Science.gov (United States)

    Shameer, Khader; Klee, Eric W; Dalenberg, Angela K; Kullo, Iftikhar J

    2014-10-01

    Massively parallel, high-throughput sequencing technology is helping to generate new insights into the genetic basis of human diseases. We used whole exome sequencing to identify the mutation underlying a syndrome affecting 2 siblings with aortic hypoplasia, calcific atherosclerosis, systolic hypertension, and premature cataract. Exonic regions were captured and sequenced using a next-generation sequencing platform to generate 100 bases paired-end reads. A computational genomic data analysis pipeline was used to perform quality control, align reads to a reference genome, and identify genetic variants; findings were confirmed using a different exome analyses pipeline. The 2 siblings were homozygous for a rare missense mutation (Ser818Cys) in INO80D, a subunit of the human INO80 chromatin remodeling complex. Homozygosity mapping and Sanger sequencing confirmed that the mutation is located in one of the runs of homozygosity on chromosome 2. INO80D encodes a key subunit of the human IN080 complex, a multiprotein complex involved in DNA binding, chromatin modification, organization of chromosome structure, and ATP-dependent nucleosome sliding. By introducing a new disulphide-bond in the protein product and also disrupting the composition of low-complexity regions, the Ser818Cys mutation may affect INO80D function, protein-protein interactions, and chromatin remodeling. Our findings suggest a link between the Ser818Cys mutation in INO80D, a subunit of the human INO80 chromatin remodeling complex, and accelerated arterial aging. © 2014 American Heart Association, Inc.

  1. Ankyrin-B syndrome: enhanced cardiac function balanced by risk of cardiac death and premature senescence.

    Directory of Open Access Journals (Sweden)

    Peter J Mohler

    2007-10-01

    Full Text Available Here we report the unexpected finding that specific human ANK2 variants represent a new example of balanced human variants. The prevalence of certain ANK2 (encodes ankyrin-B variants range from 2 percent of European individuals to 8 percent in individuals from West Africa. Ankyrin-B variants associated with severe human arrhythmia phenotypes (eg E1425G, V1516D, R1788W were rare in the general population. Variants associated with less severe clinical and in vitro phenotypes were unexpectedly common. Studies with the ankyrin-B(+/- mouse reveal both benefits of enhanced cardiac contractility, as well as costs in earlier senescence and reduced lifespan. Together these findings suggest a constellation of traits that we term "ankyrin-B syndrome", which may contribute to both aging-related disorders and enhanced cardiac function.

  2. 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

  3. [Heliox augmented mechanical ventilation in the treatment of premature infants with respiratory distress syndrome].

    Science.gov (United States)

    Szczapa, Tomasz; Gadzinowski, Janusz; Moczko, Jerzy

    2014-12-01

    The aim of the study was to assess the influence of mechanical ventilation with helium-oxygen mixture (heliox) on basic vital signs, oxygenation, acid-base balance and respiratory mechanics in newborns with respiratory distress syndrome (RDS), previously treated with surfactant. The study was carried out in preterm newborns with respiratory failure requiring mechanical ventilation due to RDS, requiring Fi02>0.4 after a single dose of surfactant. Patients were ventilated using PC-SIMV Parameters of mechanical ventilation, respiratory function, oxygenation, acid-base balance and vital signs were recorded at baseline, one hour during and one hour after heliox ventilation. Ten newborns with RDS were enrolled in the study Mechanical ventilation with heliox did not affect vital signs and patient general condition remained stable during and after ventilation with heliox. Mechanical ventilation with heliox was associated with a statistically significant increase in tidal volume (mean 5.48 vs. 6.55 ml/kg). There were no significant changes in minute ventilation and peak expiratory flow rate. Mechanical ventilation with heliox allowed the use of significantly lower fractions of inspired oxygen (mean 0.55 vs. 0.35), with a significant decrease in the oxygenation index (mean 8.77 vs. 5.02) and alveolar-arterial oxygen tension difference (mean 263.81 vs. 113.28 mm Hg). After ventilation with this gas mixture was stopped, the patients required higher Fi02, 01 and AaD02 levels increased. Mechanical ventilation with heliox was safe, improved oxygenation and caused an increase in tidai, volume in newborns with RDS previously treated with surfactant.

  4. Premature ovarian failure

    Directory of Open Access Journals (Sweden)

    Persani Luca

    2006-04-01

    Full Text Available Abstract Premature ovarian failure (POF is a primary ovarian defect characterized by absent menarche (primary amenorrhea or premature depletion of ovarian follicles before the age of 40 years (secondary amenorrhea. It is a heterogeneous disorder affecting approximately 1% of women e.g. Turner syndrome represent the major cause of primary amenorrhea associated with ovarian dysgenesis. Despite the description of several candidate genes, the cause of POF remains undetermined in the vast majority of the cases. Management includes substitution of the hormone defect by estrogen/progestin preparations. The only solution presently available for the fertility defect in women with absent follicular reserve is ovum donation.

  5. Lipopolysaccharide-binding protein as marker of fetal inflammatory response syndrome after preterm premature rupture of membranes.

    Science.gov (United States)

    Pavcnik-Arnol, Maja; Lucovnik, Miha; Kornhauser-Cerar, Lilijana; Premru-Srsen, Tanja; Hojker, Sergej; Derganc, Metka

    2014-01-01

    Intra-amniotic inflammation with preterm premature rupture of membranes (PPROM) is a risk factor for fetal inflammatory response syndrome (FIRS) and adverse neonatal outcome. To evaluate the diagnostic accuracy of lipopolysaccharide-binding protein (LBP) for detecting FIRS in preterm neonates born after PPROM. This was a prospective study in the level III neonatal intensive care unit (42 neonates; 23 + 6 to 31 + 6 weeks' gestation) of mothers with PPROM. Umbilical cord blood concentrations of LBP, C-reactive protein (CRP), interleukin (IL)-6 and white blood cell count with differential were measured at delivery and 24 h after birth. Neonates were classified into FIRS (n = 22) and no FIRS (n = 20) groups according to clinical criteria and IL-6 level (≥17.5 pg/ml). Histological examination of the placenta and umbilical cord was performed. Neurological examination at 12 months' corrected age was performed. Umbilical cord blood concentration of LBP was significantly higher in the FIRS group than in the no FIRS group at delivery (median 21.6 mg/l vs. median 2.3 mg/l; p < 0.0001) and 24 h after birth (median 17.2 mg/l vs. median 20.0 mg/l; p < 0.001). The area under the ROC curve for FIRS at delivery was 0.98 (95% CI 0.88-1.0) for LBP, 0.92 (95% CI 0.80-0.99) for CRP and 0.82 (95% CI 0.64-0.94) for immature to total neutrophil ratio. Similar results were obtained if FIRS was defined by funisitis. Umbilical cord blood concentration of LBP at delivery was significantly higher in neonates with abnormal neurological exam at 12 months than in those with normal exam (median 19.5 mg/l vs. median 3.75 mg/l; p < 0.015). In preterm neonates born to asymptomatic women with PPROM, LBP in cord blood at delivery is an excellent diagnostic biomarker of FIRS/funisitis with prognostic potential. © 2013 S. Karger AG, Basel.

  6. Chorioamnion plugging and the risk of preterm premature rupture of membranes after laser surgery in twin-twin transfusion syndrome.

    Science.gov (United States)

    Papanna, R; Molina, S; Moise, K Y; Moise, K J; Johnson, A

    2010-03-01

    To examine the incidence of preterm premature rupture of membranes (PPROM) in pregnancies affected by twin-twin transfusion syndrome (TTTS) treated with laser photocoagulation where an absorbable gelatin sponge was used as a chorioamnion sealant of the fetoscopic access port. A retrospective review was undertaken of consecutive cases undergoing fetoscopic directed laser surgery for TTTS between October 2006 and November 2008 at Texas Children's Fetal Center, in which an absorbable gelatin sponge, used as a chorioamnion 'plug', was placed at the conclusion of the intervention as a possible prophylactic measure to prevent PPROM. We excluded cases that had a failure of plug placement and those in which it was not attempted. PPROM was defined as rupture of membranes before 34 weeks' gestation. A comparison was performed between the PPROM group and a no-PPROM group to determine risk factors and outcomes. Successful plug placement occurred in 79 of 84 cases (94%) in which it was attempted after laser surgery, with a rate of PPROM of 34% in these patients. PPROM occurred at an average gestational age of 26.5 +/- 3.6 weeks, with an average procedure-to-PPROM interval of 5.2 +/- 3.5 weeks. There were no statistically significant differences between the PPROM group and the no-PPROM group in maternal demographics or preoperative parameters including: amniotic fluid volumes in the recipient twin's gestational sac, volume of amnioreduction, and location of the placenta. The procedure-to-delivery interval for the total cohort (n = 79) was 9.2 +/- 4.7 weeks, without a significant difference between the two groups (P = 0.08). However, after exclusion of one PPROM outlier, the PPROM group had an average procedure-to-delivery time 2 weeks shorter than the group with no PPROM (P = 0.03). The live birth rates were similar in the PPROM and no-PPROM groups, at 77 and 73%, respectively. However, the average recipient's weight in the PPROM group was significantly lower than in the no

  7. Você conhece esta síndrome? Do you know this syndrome?

    Directory of Open Access Journals (Sweden)

    Josie da Costa Eiras

    2011-02-01

    Full Text Available A Síndrome de Huntchinson-Gilford (Progeria é uma rara doença autossômica dominante, caracterizada pelo envelhecimento precoce. Relata-se caso de uma criança, que aos 6 meses iniciou alopecia na região occipital e placas esclerodermiformes no abdome. Esta síndrome apresenta alterações em vários órgãos e sistemas como a pele, esquelético e sistema cardiovascular. O diagnóstico é clínico e não possui tratamento, porém seu reconhecimento é necessário para minimizar a aterosclerose precoce através do controle da dislipidemia.Huntchinson-Gilford Syndrome (Progeria is a rare autosomal dominant disease characterized by premature aging. It is reported the case of child whose alopecia started at the age of 6 months on the occipital region. The child also presented scleroderma plaques on the abdomen. This syndrome presents alterations in many organs and systems such as the skin and the skeletal and cardiovascular systems. The diagnosis is clinical and there is no treatment for it but recognition is necessary to minimize early atherosclerosis through the control of dyslipidemia.

  8. Premature infant

    Science.gov (United States)

    ... into the stomach. In very premature or sick infants, nutrition may be given through a vein until the baby is stable enough to receive all nutrition through the stomach. If the infant has breathing problems: A tube may be placed ...

  9. Contribution of Histologic Chorioamnionitis and Fetal Inflammatory Response Syndrome to Increased Risk of Brain Injury in Infants With Preterm Premature Rupture of Membranes.

    Science.gov (United States)

    Lu, Hong-Yan; Zhang, Qiang; Wang, Qiu-Xia; Lu, Jun-Ying

    2016-08-01

    To determine the association of histologic chorioamnionitis (HCA) and fetal inflammatory response syndrome (FIRS) with brain injuries in infants born to mothers with preterm premature rupture of membranes. A total of 103 singleton infants born to mothers with preterm premature rupture of membranes were enrolled. The placental inflammation was confirmed by HCA, and FIRS was defined in fetuses with preterm labor and an elevation of the fetal plasma interleukin-6 concentration. Examination of brain images was conducted to confirm the existence of brain injuries. Based on placental HCA and umbilical cord blood interleukin-6 level, all patients were divided into three groups: HCA(-)FIRS(+), HCA(+)FIRS(-), and HCA(+)FIRS(+). Among all infants with preterm premature rupture of membranes, 53.40% were exposed to HCA, 20.38% experienced FIRS, and the overall incidence of brain injuries was 38.83%. The incidence of brain injury in HCA(-)FIRS(+), HCA(+)FIRS(-), and HCA(+)FIRS(+) groups were 20.83%, 41.18%, and 76.19%, respectively. HCA at the advanced grades and stages was associated with increased risk of brain injury. Umbilical cord blood levels of interleukin-6 (IL-6), interleukin-8 (IL-8), tumor necrosis factor alpha (TNF-α), and granulocyte-colony stimulating factor (G-CSF) in premature infants with brain injuries were significantly higher than in those without brain injuries. Infants diagnosed with both HCA and FIRS showed significantly higher levels of IL-8, TNF-α, and G-CSF than those with HCA alone. Preterm infants exposed to severe chorioamnionitis had an increased risk of brain injury. IL-6, IL-8, TNF-α, and G-CSF in cord blood were associated with brain injuries in preterm infants and may be used as extradiagnostic criteria. Copyright © 2016 Elsevier Inc. All rights reserved.

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

    Directory of Open Access Journals (Sweden)

    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.

  11. 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.

  12. The neonatal progeroid syndrome (Wiedemann-Rautenstrauch): a model for the study of human aging?

    Science.gov (United States)

    Arboleda, Gonzalo; Ramírez, Nelson; Arboleda, Humberto

    2007-10-01

    The Wiedemann-Rautenstrauch syndrome (WRS) characterises a premature aging syndrome in which several features of human aging are apparent at birth therefore allowing their grouping as a neonatal progeroid condition. This differentiates WRS from other progeroid entities such as Hutchinson-Gilford progeria syndrome (HGPS) in which characteristics of premature aging become apparent some time after birth. The etiology of WRS remains unknown. Some studies have observed an autosomal recessive mode of inheritance. Several studies analysing telomere length and lamin A gene have not revealed any alterations. However, mutations in LMNA have been reported in several other atypical progeroid syndromes. Based on these observations, several hypothesis could be withdrawn concerning the etiology of WRS. The study of genes associated with lamin A metabolism, such as Zmpste24, and the metabolic pathways associated with insulin, such as protein kinase B or AKT, are of particular interest. We believe that WRS characteristics indicate that discovery of the gene and the metabolic pathway associated with this syndrome will most likely lead to new knowledge about the physiopathology of human aging.

  13. Biomechanical Strain Exacerbates Inflammation on a Progeria-on-a-Chip Model

    NARCIS (Netherlands)

    Ribas, J.; Zhang, Y.S.; Pitrez, P.R.; Leijten, Jeroen Christianus Hermanus; Miscuglio, M.; Rouwkema, Jeroen; Dokmeci, M.R.; Nissan, X.; Ferreira, L.; Khademhosseini, A.

    2017-01-01

    A progeria-on-a-chip model is engineered to recapitulate the biomechanical dynamics of vascular disease and aging. The model shows an exacerbated injury response to strain and is rescued by pharmacological treatments. The progeria-on-a-chip is expected to drive the discovery of new drugs and to

  14. Marfan syndrome with neonatal progeroid syndrome-like lipodystrophy associated with a novel frameshift mutation at the 3' terminus of the FBN1-gene.

    Science.gov (United States)

    Graul-Neumann, Luitgard M; Kienitz, Tina; Robinson, Peter N; Baasanjav, Sevjidmaa; Karow, Benjamin; Gillessen-Kaesbach, Gabriele; Fahsold, Raimund; Schmidt, Hartmut; Hoffmann, Katrin; Passarge, Eberhard

    2010-11-01

    We report on a 25-year-old woman with pronounced generalized lipodystrophy and a progeroid aspect since birth, who also had Marfan syndrome (MFS; fulfilling the Ghent criteria) with mild skeletal features, dilated aortic bulb, dural ectasia, bilateral subluxation of the lens, and severe myopia in addition to the severe generalized lipodystrophy. She lacked insulin resistance, hypertriglyceridemia, hepatic steatosis, and diabetes. Mutation analysis in the gene encoding fibrillin 1 (FBN1) revealed a novel de novo heterozygous deletion, c.8155_8156del2 in exon 64. The severe generalized lipodystrophy in this patient with progeroid features has not previously been described in other patients with MFS and FBN1 mutations. We did not find a mutation in genes known to be associated with congenital lipodystrophy (APGAT2, BSCL2, CAV1, PTRF-CAVIN, PPARG, LMNB2) or with Hutchinson-Gilford progeria (ZMPSTE24, LMNA/C). Other progeria syndromes were considered unlikely because premature greying, hypogonadism, and scleroderma-like skin disease were not present. Our patient shows striking similarity to two patients who have been published in this journal by O'Neill et al. [O'Neill et al. (2007); Am J Med Genet Part A 143A:1421-1430] with the diagnosis of neonatal progeroid syndrome (NPS). This condition also known as Wiedemann-Rautenstrauch syndrome is a rare disorder characterized by accelerated aging and lipodystrophy from birth, poor postnatal weight gain, and characteristic facial features. The course is usually progressive with early lethality. However this entity seems heterogeneous. We suggest that our patient and the two similar cases described before represent a new entity, a subgroup of MFS with overlapping features to NPS syndrome. © 2010 Wiley-Liss, Inc.

  15. Premature Menopause

    African Journals Online (AJOL)

    therapy is beneficial to adverse consequences of premature menopause. Women .... [32] Maternal aging and oestrogen deficiency as a result of .... The pathology of female genital tuberculosis. Obstet Gynecol 1979;53:422‑8. 17. Jick A, Porter J, Morrison AS. The relationship between smoking and age of natural menopause.

  16. Adaptive stress response in segmental progeria resembles long-lived dwarfism and calorie restriction in mice.

    Directory of Open Access Journals (Sweden)

    Marieke van de Ven

    2006-12-01

    Full Text Available How congenital defects causing genome instability can result in the pleiotropic symptoms reminiscent of aging but in a segmental and accelerated fashion remains largely unknown. Most segmental progerias are associated with accelerated fibroblast senescence, suggesting that cellular senescence is a likely contributing mechanism. Contrary to expectations, neither accelerated senescence nor acute oxidative stress hypersensitivity was detected in primary fibroblast or erythroblast cultures from multiple progeroid mouse models for defects in the nucleotide excision DNA repair pathway, which share premature aging features including postnatal growth retardation, cerebellar ataxia, and death before weaning. Instead, we report a prominent phenotypic overlap with long-lived dwarfism and calorie restriction during postnatal development (2 wk of age, including reduced size, reduced body temperature, hypoglycemia, and perturbation of the growth hormone/insulin-like growth factor 1 neuroendocrine axis. These symptoms were also present at 2 wk of age in a novel progeroid nucleotide excision repair-deficient mouse model (XPD(G602D/R722W/XPA(-/- that survived weaning with high penetrance. However, despite persistent cachectic dwarfism, blood glucose and serum insulin-like growth factor 1 levels returned to normal by 10 wk, with hypoglycemia reappearing near premature death at 5 mo of age. These data strongly suggest changes in energy metabolism as part of an adaptive response during the stressful period of postnatal growth. Interestingly, a similar perturbation of the postnatal growth axis was not detected in another progeroid mouse model, the double-strand DNA break repair deficient Ku80(-/- mouse. Specific (but not all types of genome instability may thus engage a conserved response to stress that evolved to cope with environmental pressures such as food shortage.

  17. Temsirolimus Partially Rescues the Hutchinson-Gilford Progeria Cellular Phenotype.

    Directory of Open Access Journals (Sweden)

    Diana Gabriel

    Full Text Available Hutchinson-Gilford syndrome (HGPS, OMIM 176670, a rare premature aging disorder that leads to death at an average age of 14.7 years due to myocardial infarction or stroke, is caused by mutations in the LMNA gene. Lamins help maintain the shape and stability of the nuclear envelope in addition to regulating DNA replication, DNA transcription, proliferation and differentiation. The LMNA mutation results in the deletion of 50 amino acids from the carboxy-terminal region of prelamin A, producing the truncated, farnesylated protein progerin. The accumulation of progerin in HGPS nuclei causes numerous morphological and functional changes that lead to premature cellular senescence. Attempts to reverse this HGPS phenotype have identified rapamycin, an inhibitor of mammalian target of rapamycin (mTOR, as a drug that is able to rescue the HGPS cellular phenotype by promoting autophagy and reducing progerin accumulation. Rapamycin is an obvious candidate for the treatment of HGPS disease but is difficult to utilize clinically. To further assess rapamycin's efficacy with regard to proteostasis, mitochondrial function and the degree of DNA damage, we tested temsirolimus, a rapamycin analog with a more favorable pharmacokinetic profile than rapamycin. We report that temsirolimus decreases progerin levels, increases proliferation, reduces misshapen nuclei, and partially ameliorates DNA damage, but does not improve proteasome activity or mitochondrial dysfunction. Our findings suggest that future therapeutic strategies should identify new drug combinations and treatment regimens that target all the dysfunctional hallmarks that characterize HGPS cells.

  18. Lipoprotein(a) Interactions With Low-Density Lipoprotein Cholesterol and Other Cardiovascular Risk Factors in Premature Acute Coronary Syndrome (ACS).

    Science.gov (United States)

    Afshar, Mehdi; Pilote, Louise; Dufresne, Line; Engert, James C; Thanassoulis, George

    2016-04-23

    Current recommendations for lipoprotein(a) (Lp[a]) focus on the control of other risk factors, including lowering low-density lipoprotein cholesterol (LDL-C), with little evidence to support this approach. Identifying interactions between Lp(a) and other risk factors could identify individuals at increased risk for Lp(a)-mediated disease. We used a case-only study design and included 939 participants (median age=49 years, interquartile range 46-53, women=33.1%) from the GENdEr and Sex determInantS of cardiovascular disease: from bench to beyond-Premature Acute Coronary Syndrome (GENESIS-PRAXY) study, a multicenter prospective cohort study of premature acute coronary syndrome. There was a higher prevalence of elevated Lp(a) levels (>50 mg/dL; 80th percentile) in PRAXY participants as compared to the general population (31% versus 20%; P2.5 mmol/L, indicating a synergistic interaction (adjusted odds ratio 1.51; 95% CI 1.08-2.09; P=0.015). The interaction with high Lp(a) was stronger at increasing LDL-C levels (LDL-C >3.5, adjusted odds ratio 1.87; LDL-C >4.5, adjusted odds ratio 2.72). In a polytomous logistic model comparing mutually exclusive LDL-C categories, the interaction with high Lp(a) became attenuated at LDL-C ≤3.5 mmol/L (odds ratio 1.16; 95% CI 0.80-1.68, P=0.447). Other risk factors were not associated with high Lp(a). In young acute coronary syndrome patients, high Lp(a) is more prevalent than in the general population and is strongly associated with high LDL-C, suggesting that Lp(a) confers greater risk for acute coronary syndrome when LDL-C is elevated. Individuals with high Lp(a) and LDL-C >3.5 mmol/L may warrant aggressive LDL-C lowering. © 2016 The Authors. Published on behalf of the American Heart Association, Inc., by Wiley Blackwell.

  19. 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. © The Author(s) 2015.

  20. 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

    Cockayne syndrome (CS) is an accelerated aging disorder characterized by progressive neurodegeneration caused by mutations in genes encoding the DNA repair proteins CS group A or B (CSA or CSB). Since dietary interventions can alter neurodegenerative processes, Csbm/m mice were given a high...

  1. Requirement of Fatty Acid Transport Protein 4 for Development, Maturation, and Function of Sebaceous Glands in a Mouse Model of Ichthyosis Prematurity Syndrome*

    Science.gov (United States)

    Lin, Meei-Hua; Hsu, Fong-Fu; Miner, Jeffrey H.

    2013-01-01

    Fatty acid transport protein 4 (FATP4) is one of a family of six transmembrane proteins that facilitate long- and very long-chain fatty acid uptake. FATP4 is expressed in several tissues, including skin. Mutations in human SLC27A4, which encodes FATP4, cause ichthyosis prematurity syndrome, characterized by a thick desquamating epidermis and premature birth. Mice lacking FATP4, which genetically model the human disease, are born with tight, thick skin and a defective skin barrier; they die neonatally due to dehydration and restricted movements. Both the skin phenotype and the lethality are rescued by transgene expression of FATP4 in suprabasal keratinocytes. Sebaceous glands in Fatp4 null skin grafted onto nude mice were found to be dystrophic and enwrapped by thick layers of epithelial cells. Consistent with these results, transgene-rescued Fatp4 null mice showed a subnormal level of FATP4 expression in sebocytes and exhibited abnormal development of both sebaceous glands and meibomian glands, specialized sebaceous glands of the eyelids. Sebum from these mice contained a reduced level of type II diester wax, a major mouse sebum lipid species, and showed perturbations in mass spectrometric profiles of diester wax and cholesteryl ester species. In addition, these mice showed an impaired ability to repel water and regulate body temperature after water immersion. Taken together, our results suggest that FATP4 plays crucial roles in the development and maturation of both sebaceous and meibomian glands, as well as in the formation and composition of sebum, likely by regulating the trafficking of fatty acids necessary for proper synthesis of sebum lipids. PMID:23271751

  2. Requirement of fatty acid transport protein 4 for development, maturation, and function of sebaceous glands in a mouse model of ichthyosis prematurity syndrome.

    Science.gov (United States)

    Lin, Meei-Hua; Hsu, Fong-Fu; Miner, Jeffrey H

    2013-02-08

    Fatty acid transport protein 4 (FATP4) is one of a family of six transmembrane proteins that facilitate long- and very long-chain fatty acid uptake. FATP4 is expressed in several tissues, including skin. Mutations in human SLC27A4, which encodes FATP4, cause ichthyosis prematurity syndrome, characterized by a thick desquamating epidermis and premature birth. Mice lacking FATP4, which genetically model the human disease, are born with tight, thick skin and a defective skin barrier; they die neonatally due to dehydration and restricted movements. Both the skin phenotype and the lethality are rescued by transgene expression of FATP4 in suprabasal keratinocytes. Sebaceous glands in Fatp4 null skin grafted onto nude mice were found to be dystrophic and enwrapped by thick layers of epithelial cells. Consistent with these results, transgene-rescued Fatp4 null mice showed a subnormal level of FATP4 expression in sebocytes and exhibited abnormal development of both sebaceous glands and meibomian glands, specialized sebaceous glands of the eyelids. Sebum from these mice contained a reduced level of type II diester wax, a major mouse sebum lipid species, and showed perturbations in mass spectrometric profiles of diester wax and cholesteryl ester species. In addition, these mice showed an impaired ability to repel water and regulate body temperature after water immersion. Taken together, our results suggest that FATP4 plays crucial roles in the development and maturation of both sebaceous and meibomian glands, as well as in the formation and composition of sebum, likely by regulating the trafficking of fatty acids necessary for proper synthesis of sebum lipids.

  3. A Heterozygous ZMPSTE24 Mutation Associated with Severe Metabolic Syndrome, Ectopic Fat Accumulation, and Dilated Cardiomyopathy

    Directory of Open Access Journals (Sweden)

    Damien Galant

    2016-04-01

    Full Text Available ZMPSTE24 encodes the only metalloprotease, which transforms prelamin into mature lamin A. Up to now, mutations in ZMPSTE24 have been linked to Restrictive Dermopathy (RD, Progeria or Mandibulo-Acral Dysplasia (MAD. We report here the phenotype of a patient referred for severe metabolic syndrome and cardiomyopathy, carrying a mutation in ZMPSTE24. The patient presented with a partial lipodystrophic syndrome associating hypertriglyceridemia, early onset type 2 diabetes, and android obesity with truncal and abdominal fat accumulation but without subcutaneous lipoatrophy. Other clinical features included acanthosis nigricans, liver steatosis, dilated cardiomyopathy, and high myocardial and hepatic triglycerides content. Mutated fibroblasts from the patient showed increased nuclear shape abnormalities and premature senescence as demonstrated by a decreased Population Doubling Level, an increased beta-galactosidase activity and a decreased BrdU incorporation rate. Reduced prelamin A expression by siRNA targeted toward LMNA transcripts resulted in decreased nuclear anomalies. We show here that a central obesity without subcutaneous lipoatrophy is associated with a laminopathy due to a heterozygous missense mutation in ZMPSTE24. Given the high prevalence of metabolic syndrome and android obesity in the general population, and in the absence of familial study, the causative link between mutation and phenotype cannot be formally established. Nevertheless, altered lamina architecture observed in mutated fibroblasts are responsible for premature cellular senescence and could contribute to the phenotype observed in this patient.

  4. A Heterozygous ZMPSTE24 Mutation Associated with Severe Metabolic Syndrome, Ectopic Fat Accumulation, and Dilated Cardiomyopathy.

    Science.gov (United States)

    Galant, Damien; Gaborit, Bénédicte; Desgrouas, Camille; Abdesselam, Ines; Bernard, Monique; Levy, Nicolas; Merono, Françoise; Coirault, Catherine; Roll, Patrice; Lagarde, Arnaud; Bonello-Palot, Nathalie; Bourgeois, Patrice; Dutour, Anne; Badens, Catherine

    2016-04-25

    ZMPSTE24 encodes the only metalloprotease, which transforms prelamin into mature lamin A. Up to now, mutations in ZMPSTE24 have been linked to Restrictive Dermopathy (RD), Progeria or Mandibulo-Acral Dysplasia (MAD). We report here the phenotype of a patient referred for severe metabolic syndrome and cardiomyopathy, carrying a mutation in ZMPSTE24. The patient presented with a partial lipodystrophic syndrome associating hypertriglyceridemia, early onset type 2 diabetes, and android obesity with truncal and abdominal fat accumulation but without subcutaneous lipoatrophy. Other clinical features included acanthosis nigricans, liver steatosis, dilated cardiomyopathy, and high myocardial and hepatic triglycerides content. Mutated fibroblasts from the patient showed increased nuclear shape abnormalities and premature senescence as demonstrated by a decreased Population Doubling Level, an increased beta-galactosidase activity and a decreased BrdU incorporation rate. Reduced prelamin A expression by siRNA targeted toward LMNA transcripts resulted in decreased nuclear anomalies. We show here that a central obesity without subcutaneous lipoatrophy is associated with a laminopathy due to a heterozygous missense mutation in ZMPSTE24. Given the high prevalence of metabolic syndrome and android obesity in the general population, and in the absence of familial study, the causative link between mutation and phenotype cannot be formally established. Nevertheless, altered lamina architecture observed in mutated fibroblasts are responsible for premature cellular senescence and could contribute to the phenotype observed in this patient.

  5. Premature graying of hair.

    Science.gov (United States)

    Pandhi, Deepika; Khanna, Deepshikha

    2013-01-01

    Premature graying is an important cause of low self-esteem, often interfering with socio-cultural adjustment. The onset and progression of graying or canities correlate very closely with chronological aging, and occur in varying degrees in all individuals eventually, regardless of gender or race. Premature canities may occur alone as an autosomal dominant condition or in association with various autoimmune or premature aging syndromes. It needs to be differentiated from various genetic hypomelanotic hair disorders. Reduction in melanogenically active melanocytes in the hair bulb of gray anagen hair follicles with resultant pigment loss is central to the pathogenesis of graying. Defective melanosomal transfers to cortical keratinocytes and melanin incontinence due to melanocyte degeneration are also believed to contribute to this. The white color of canities is an optical effect; the reflection of incident light masks the intrinsic pale yellow color of hair keratin. Full range of color from normal to white can be seen both along individual hair and from hair to hair, and admixture of pigmented and white hair is believed to give the appearance of gray. Graying of hair is usually progressive and permanent, but there are occasional reports of spontaneous repigmentation of gray hair. Studies evaluating the association of canities with osteopenia and cardiovascular disease have revealed mixed results. Despite the extensive molecular research being carried out to understand the pathogenesis of canities, there is paucity of effective evidence-based treatment options. Reports of repigmentation of previously white hair following certain inflammatory processes and use of drugs have suggested the possibility of cytokine-induced recruitment of outer sheath melanocytes to the hair bulb and rekindled the hope for finding an effective drug for treatment of premature canities. In the end, camouflage techniques using hair colorants are outlined.

  6. Premature graying of hair

    Directory of Open Access Journals (Sweden)

    Deepika Pandhi

    2013-01-01

    Full Text Available Premature graying is an important cause of low self-esteem, often interfering with socio-cultural adjustment. The onset and progression of graying or canities correlate very closely with chronological aging, and occur in varying degrees in all individuals eventually, regardless of gender or race. Premature canities may occur alone as an autosomal dominant condition or in association with various autoimmune or premature aging syndromes. It needs to be differentiated from various genetic hypomelanotic hair disorders. Reduction in melanogenically active melanocytes in the hair bulb of gray anagen hair follicles with resultant pigment loss is central to the pathogenesis of graying. Defective melanosomal transfers to cortical keratinocytes and melanin incontinence due to melanocyte degeneration are also believed to contribute to this. The white color of canities is an optical effect; the reflection of incident light masks the intrinsic pale yellow color of hair keratin. Full range of color from normal to white can be seen both along individual hair and from hair to hair, and admixture of pigmented and white hair is believed to give the appearance of gray. Graying of hair is usually progressive and permanent, but there are occasional reports of spontaneous repigmentation of gray hair. Studies evaluating the association of canities with osteopenia and cardiovascular disease have revealed mixed results. Despite the extensive molecular research being carried out to understand the pathogenesis of canities, there is paucity of effective evidence-based treatment options. Reports of repigmentation of previously white hair following certain inflammatory processes and use of drugs have suggested the possibility of cytokine-induced recruitment of outer sheath melanocytes to the hair bulb and rekindled the hope for finding an effective drug for treatment of premature canities. In the end, camouflage techniques using hair colorants are outlined.

  7. Adaptive stress response in segmental progeria resembles long-lived dwarfism and calorie restriction in mice

    NARCIS (Netherlands)

    van de Ven, Marieke; Andressoo, Jaan-Olle; Holcomb, Valerie B.; von Lindern, Marieke; Jong, Willeke M. C.; de Zeeuw, Chris I.; Suh, Yousin; Hasty, Paul; Hoeijmakers, Jan H. J.; van der Horst, Gijsbertus T. J.; Mitchell, James R.

    2006-01-01

    How congenital defects causing genome instability can result in the pleiotropic symptoms reminiscent of aging but in a segmental and accelerated fashion remains largely unknown. Most segmental progerias are associated with accelerated fibroblast senescence, suggesting that cellular senescence is a

  8. Premature birth, respiratory distress, intracerebral hemorrhage, and silvery-gray hair: differential diagnosis of the 3 types of Griscelli syndrome.

    Science.gov (United States)

    Al-Idrissi, Eman; ElGhazali, Geyhad; Alzahrani, Mofarah; Ménasché, Gaël; Pachlopnik Schmid, Jana; Basile, Geneviève de Saint

    2010-08-01

    A preterm neonate, born to consanguineous parents, presented with respiratory distress, intracerebral hemorrhage, and a silvery-gray sheen of the hair and eyelashes. Griscelli syndrome (GS) type 3 was diagnosed after the detection of a novel homozygous mutation of the melanophilin gene. Thus, only the hypopigmentation, but not the patient's other clinical features, were attributable to this form of GS. Differential diagnosis of the various forms of GS must be performed as early as possible as GS2 is associated with a life threatening but curable immune disorder.

  9. Different prelamin A forms accumulate in human fibroblasts: a study in experimental models and progeria

    Directory of Open Access Journals (Sweden)

    S Dominici

    2009-08-01

    Full Text Available Lamin A is a component of the nuclear lamina mutated in a group of human inherited disorders known as laminopathies. Among laminopathies, progeroid syndromes and lipodystrophies feature accumulation of prelamin A, the precursor protein which, in normal cells, undergoes a multi-step processing to yield mature lamin A. It is of utmost importance to characterize the prelamin A form accumulated in each laminopathy, since existing evidence shows that drugs acting on protein processing can improve some pathological aspects.We report that two antibodies raised against differently modified prelamin A peptides show a clear specificity to full-length prelamin A or carboxymethylated farnesylated prelamin A, respectively. Using these antibodies, we demonstrated that inhibition of the prelamin A endoprotease ZMPSTE24 mostly elicits accumulation of full-length prelamin A in its farnesylated form, while loss of the prelamin A cleavage site causes accumulation of carboxymethylated prelamin A in progeria cells. These results suggest a major role of ZMPSTE24 in the first prelamin A cleavage step.

  10. Different prelamin A forms accumulate in human fibroblasts: a study in experimental models and progeria

    Directory of Open Access Journals (Sweden)

    G Lattanzi

    2009-03-01

    Full Text Available Lamin A is a component of the nuclear lamina mutated in a group of human inherited disorders known as laminopathies. Among laminopathies, progeroid syndromes and lipodystrophies feature accumulation of prelamin A, the precursor protein which, in normal cells, undergoes a multi-step processing to yield mature lamin A. It is of utmost importance to characterize the prelamin A form accumulated in each laminopathy, since existing evidence shows that drugs acting on protein processing can improve some pathological aspects.We report that two antibodies raised against differently modified prelamin A peptides show a clear specificity to full-length prelamin A or carboxymethylated farnesylated prelamin A, respectively. Using these antibodies, we demonstrated that inhibition of the prelamin A endoprotease ZMPSTE24 mostly elicits accumulation of full-length prelamin A in its farnesylated form, while loss of the prelamin A cleavage site causes accumulation of carboxymethylated prelamin A in progeria cells. These results suggest a major role of ZMPSTE24 in the first prelamin A cleavage step.

  11. Osteopenia - premature infants

    Science.gov (United States)

    Neonatal rickets; Brittle bones - premature infants; Weak bones - premature infants; Osteopenia of prematurity ... AW, Diamond FB. Disorders of mineral homeostasis in children and adolescents. In: Sperling MA ed. Pediatric Endocrinology . ...

  12. Analysis of four families with the Stickler syndrome by linkage studies. Identification of a new premature stop codon in the COL2A1 gene in a family

    Energy Technology Data Exchange (ETDEWEB)

    Bonaventure, J.; Lasselin, C. [Hopital Necker, Paris (France); Toutain, A. [CHU Bretonneau, Tours (France)] [and others

    1994-09-01

    The Stickler syndrome is an arthro-ophthalmopathy which associates progressive myopia with vitreal degeneration and retinal detachment. Cleft palate, cranio-facial abnormalities, deafness and osteoarthritis are often associated symptoms. Genetic heterogeneity of this autosomal dominant disease was consistent with its large clinical variability. Linkage studies have provided evidence for cosegregation of the disease with COL2A1, the gene coding for type II collagen, in about 50% of the families. Four additional families are reported here. Linkage analyses by using a VNTR located in the 3{prime} region of the gene were achieved. In three families, positive lod scores were obtained with a cumulative maximal value of 3.5 at a recombination fraction of 0. In one of these families, single strand conformation analysis of 25 exons disclosed a new mutation in exon 42. Codon for glutamic acid at position a1-803 was converted into a stop codon. The mutation was detected in DNA samples from all the affected members of the family but not in the unaffected. This result confirms that most of the Stickler syndromes linked to COL2A1 are due to premature stop codons. In a second family, an abnormal SSCP pattern of exon 34 was detected in all the affected individuals. The mutation is likely to correspond to a splicing defect in the acceptor site of intron 33. In one family the disease did not segregate with the COL2A1 locus. Further linkage studies with intragenic dimorphic sites in the COL10A1 gene and highly polymorphic markers close to the COL9A1 locus indicated that this disorder did not result from defects in these two genes.

  13. 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/

  14. 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.

  15. 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.

  16. Abnormalities in substance P neurokinin-1 receptor binding in key brainstem nuclei in sudden infant death syndrome related to prematurity and sex.

    Science.gov (United States)

    Bright, Fiona M; Vink, Robert; Byard, Roger W; Duncan, Jhodie R; Krous, Henry F; Paterson, David S

    2017-01-01

    Sudden infant death syndrome (SIDS) involves failure of arousal to potentially life threatening events, including hypoxia, during sleep. While neuronal dysfunction and abnormalities in neurotransmitter systems within the medulla oblongata have been implicated, the specific pathways associated with autonomic and cardiorespiratory failure are unknown. The neuropeptide substance P (SP) and its tachykinin neurokinin-1 receptor (NK1R) have been shown to play an integral role in the modulation of homeostatic function in the medulla, including regulation of respiratory rhythm generation, integration of cardiovascular control, and modulation of the baroreceptor reflex and mediation of the chemoreceptor reflex in response to hypoxia. Abnormalities in SP neurotransmission may therefore result in autonomic dysfunction during sleep and contribute to SIDS deaths. [125I] Bolton Hunter SP autoradiography was used to map the distribution and density of the SP, NK1R to 13 specific nuclei intimately related to cardiorespiratory function and autonomic control in the human infant medulla of 55 SIDS and 21 control (non-SIDS) infants. Compared to controls, SIDS cases exhibited a differential, abnormal developmental profile of the SP/NK1R system in the medulla. Furthermore the study revealed significantly decreased NK1R binding within key medullary nuclei in SIDS cases, principally in the nucleus tractus solitarii (NTS) and all three subdivisions of the inferior portion of the olivo-cerebellar complex; the principal inferior olivary complex (PIO), medial accessory olive (MAO) and dorsal accessory olive (DAO). Altered NK1R binding was significantly influenced by prematurity and male sex, which may explain the increased risk of SIDS in premature and male infants. Abnormal NK1R binding in these medullary nuclei may contribute to the defective interaction of critical medullary mechanisms with cerebellar sites, resulting in an inability of a SIDS infant to illicit appropriate respiratory and

  17. [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.

  18. An unidentified neonatal progeroid syndrome: follow-up report.

    Science.gov (United States)

    Wiedemann, H R

    1979-01-18

    Two male infants with a pseudo-hydrocephalic progeroid syndrome with natal teeth are compared with two very similar female cases reported in the literature and interpreted as congenital progeria. All these cases may represent a separate entity, a previously unrecognized genetic progeroid syndrome.

  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. Protective mechanism against cancer found in progeria patient cells

    Science.gov (United States)

    NCI scientists have studied cells of patients with an extremely rare genetic disease that is characterized by drastic premature aging and discovered a new protective cellular mechanism against cancer. They found that cells from patients with Hutchinson Gi

  1. Rescue of progeria in trichothiodystrophy by homozygous lethal Xpd alleles.

    Directory of Open Access Journals (Sweden)

    Jaan-Olle Andressoo

    2006-10-01

    Full Text Available Although compound heterozygosity, or the presence of two different mutant alleles of the same gene, is common in human recessive disease, its potential to impact disease outcome has not been well documented. This is most likely because of the inherent difficulty in distinguishing specific biallelic effects from differences in environment or genetic background. We addressed the potential of different recessive alleles to contribute to the enigmatic pleiotropy associated with XPD recessive disorders in compound heterozygous mouse models. Alterations in this essential helicase, with functions in both DNA repair and basal transcription, result in diverse pathologies ranging from elevated UV sensitivity and cancer predisposition to accelerated segmental progeria. We report a variety of biallelic effects on organismal phenotype attributable to combinations of recessive Xpd alleles, including the following: (i the ability of homozygous lethal Xpd alleles to ameliorate a variety of disease symptoms when their essential basal transcription function is supplied by a different disease-causing allele, (ii differential developmental and tissue-specific functions of distinct Xpd allele products, and (iii interallelic complementation, a phenomenon rarely reported at clinically relevant loci in mammals. Our data suggest a re-evaluation of the contribution of "null" alleles to XPD disorders and highlight the potential of combinations of recessive alleles to affect both normal and pathological phenotypic plasticity in mammals.

  2. Apnea of Prematurity

    National Research Council Canada - National Science Library

    Eichenwald, Eric C

    2016-01-01

    Apnea of prematurity is one of the most common diagnoses in the NICU. Despite the frequency of apnea of prematurity, it is unknown whether recurrent apnea, bradycardia, and hypoxemia in preterm infants are harmful...

  3. Apnea of Prematurity

    National Research Council Canada - National Science Library

    Eric C Eichenwald

    2016-01-01

      Apnea of prematurity is one of the most common diagnoses in the NICU. Despite the frequency of apnea of prematurity, it is unknown whether recurrent apnea, bradycardia, and hypoxemia in preterm infants are harmful...

  4. 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

  5. Aggressive Posterior Retinopathy of Prematurity in a Premature Male Infant

    Directory of Open Access Journals (Sweden)

    Jun Zhou

    2017-07-01

    Full Text Available A premature male infant was born at 30 weeks’ gestation with a birth weight of 1,700 g in a rural hospital. He was diagnosed with respiratory distress syndrome and received continuous positive airway pressure treatment for 26 days. At 26 days after birth, the patient was transferred to our hospital for further evaluation and management. A comprehensive eye examination revealed a stage 3 retinopathy of prematurity (ROP involving zone 2 in both eyes. The patient was recommended to a provincial-level eye hospital for emergency laser therapy. Five months after birth, the feedback from the eye hospital showed that the patient had a high risk of blindness in both eyes. Our case report shows that delaying first screening examination increases the possibility of developing aggressive posterior ROP in infants with ROP. Doctors in rural hospitals should be aware of this possibility and trained for early screening and treatment in high-risk infants.

  6. 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 ...

  7. 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.

  8. Safety and efficacy of inhaled nitric oxide treatment for premature infants with respiratory distress syndrome: follow-up evaluation at early school age.

    Science.gov (United States)

    Patrianakos-Hoobler, Athena I; Marks, Jeremy D; Msall, Michael E; Huo, Dezheng; Schreiber, Michael D

    2011-04-01

    The aims of the study were to assess the long-term safety and compare neurodevelopmental outcomes in school-age children born prematurely who received inhaled nitric oxide or placebo during the first week of life in a randomized, double-blinded study. Children treated with inhaled nitric oxide had previously been shown to have decreased intraventricular haemorrhage and periventricular leukomalacia as newborns and decreased cognitive impairment at 2 years (L.W. Doyle and P.J. Anderson. (2005) Arch Dis Child Fetal Neonatal Ed, 90, F484-F8). It is follow-up study of medical outcomes, neurodevelopmental assessment and school readiness in 135 of 167 (81%) surviving premature infants seen at 5.7±1.0 years. Compared to placebo-treated children (n=65), iNO-treated children (n=70) demonstrated no difference in growth parameters, school readiness or need for subsequent hospitalization. However, iNO-treated children were less likely to have multiple chronic morbidities or technology dependence (p=0.05). They also had less functional disability (p=0.05). These results demonstrate the long-term safety of iNO in premature infants. Furthermore, iNO treatment may improve health status by decreasing the incidence of severe ongoing morbidities and technology dependence and may also decrease the incidence of educational and community functional disability of premature infants at early school age. © 2010 The Author(s)/Acta Paediatrica © 2010 Foundation Acta Paediatrica.

  9. An upregulation in the expression of vanilloid transient potential channels 2 enhances hypotonicity-induced cytosolic Ca²⁺ rise in human induced pluripotent stem cell model of Hutchinson-Gillford Progeria.

    Directory of Open Access Journals (Sweden)

    Chun-Yin Lo

    Full Text Available Hutchinson-Gillford Progeria Syndrome (HGPS is a fatal genetic disorder characterized by premature aging in multiple organs including the skin, musculoskeletal and cardiovascular systems. It is believed that an increased mechanosensitivity of HGPS cells is a causative factor for vascular cell death and vascular diseases in HGPS patients. However, the exact mechanism is unknown. Transient receptor potential (TRP channels are cationic channels that can act as cellular sensors for mechanical stimuli. The aim of this present study was to examine the expression and functional role of TRP channels in human induced pluripotent stem cell-derived endothelial cells (iPSC-ECs from the patients with HGPS. The mRNA and protein expression of TRP channels in HGPS and control (IMR90 iPSC-ECs were examined by semi-quantitative RT-PCRs and immunoblots, respectively. Hypotonicity-induced cytosolic Ca²⁺ ([Ca²⁺](i rise in iPSC-ECs was measured by confocal microscopy. RT-PCRs and immunoblots showed higher expressional levels of TRPV2 in iPSC-ECs from HGPS patients than those from normal individuals. In functional studies, hypotonicity induced a transient [Ca²⁺](i rise in iPSC-ECs from normal individuals but a sustained [Ca²⁺](i elevation in iPSC-ECs from HGPS patients. A nonselective TRPV inhibitor, ruthenium red (RuR, 20 µM, and a specific TRPV2 channel inhibitor, tranilast (100 µM, abolished the sustained phase of hypotonicity-induced [Ca²⁺](i rise in iPSC-ECs from HGPS patients, and also markedly attenuated the transient phase of the [Ca²⁺](i rise in these cells. Importantly, a short 10 min hypotonicity treatment caused a substantial increase in caspase 8 activity in iPSC-ECs from HGPS patients but not in cells from normal individuals. Tranilast could also inhibit the hypotonicity-induced increase in caspase 8 activity. Taken together, our data suggest that an up-regulation in TRPV2 expression causes a sustained [Ca²⁺](i elevation in HGPS

  10. 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...

  11. 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

  12. Premature rupture of membranes

    Science.gov (United States)

    ... this page: //medlineplus.gov/ency/patientinstructions/000512.htm Premature rupture of membranes To use the sharing features on this page, ... When the water breaks early, it is called premature rupture of membranes (PROM). Most women will go into labor on ...

  13. Overexpression of p53 but not Rb in the cytoplasm of neurons and small vessels in an autopsy of a patient with Cockayne syndrome.

    Science.gov (United States)

    Miyahara, Hiroaki; Itonaga, Tomoyo; Maeda, Tomoki; Izumi, Tatsuro; Ihara, Kenji

    2015-06-01

    Cockayne syndrome presents senescence-like changes starting in early infancy; however, the mechanism of premature aging remains unclear. In an autopsy of a 23-year-old woman with Cockayne syndrome, we evaluated the correlation between Cockayne pathology and the expression patterns of the senescence-associated proteins p53 and Rb. Neuropathological findings in this case revealed basal ganglia calcification, tigroid leukodystrophy, bizarre reactive astrocytes, severe cerebellar atrophy with loss of Purkinje cells, and arteriolar/neuronal calcifications in the hypothalamus. Multiple arteriolar calcifications and sclerotic changes were seen in the central nervous system and kidney, but the endothelium of the aorta and coronary arteries remained intact appropriately for the individual's age without any finding of arteriosclerosis. Overexpression of p53 protein was confirmed in the cytoplasm of neurons in the basal ganglia, thalamus, hypothalamus, hippocampus and cerebellum, of arteriolar endothelial cells of the cerebrum and renal glomerular capillaries, and of cutaneous epithelial cells. The distribution of p53 overexpression was coincident with that of pathological alteration, such as neuronal loss, calcification and atrophy. High expression of p53 was localized in the cytoplasm, not in the nucleus. In contrast to p53, Rb was not expressed in any senescence lesion. In terms of senescence, distinct differences are found among organs in a patient with Cockayne syndrome. This segmental progeria differs from natural aging, and implicates p53 overexpression in the etiology of CS. © 2014 Japanese Society of Neuropathology.

  14. Manejo exitoso con stent en un prematuro con síndrome de vena cava superior: Reporte de caso Successful management with stent in a premature infant with superior vena cava syndrome: A case report

    Directory of Open Access Journals (Sweden)

    Jhon J Gómez

    2012-08-01

    Full Text Available El síndrome de vena cava superior en la infancia es una complicación inusual al uso de catéter venoso central en la unidad de cuidados intensivos neonatales. Otras causas en niños son la cirugía para enfermedades congénitas del corazón la cual ocupa la mayoría de los casos, y los linfomas, que constituyen la segunda causa más frecuente de obstrucción. Se describe el caso de un recién nacido prematuro de 25 semanas, con síndrome de vena cava superior secundario al uso de catéter venoso central para manejo de sepsis. Se destaca la importancia de un diagnóstico y tratamiento precoz. Así mismo, se reporta el manejo exitoso con stent para el síndrome de vena cava superior.Superior vena cava syndrome in infancy is an unusual complication of the use of central venous catheters in neonatal intensive care unit. Other causes of this syndrome in children are surgery for congenital heart disease which accounts for most of the cases, and lymphomas, that constitute the second most common cause of obstruction. We describe the case of a premature infant born at 25 weeks with superior vena cava syndrome secondary to a central venous catheter for management of sepsis. The importance of early diagnosis and treatment is highlighted. We also report the successful management with stenting for superior vena cava syndrome.

  15. Premature Ventricular Contractions (PVCs)

    Science.gov (United States)

    ... Premature ventricular contractions (PVCs) Symptoms & causes Diagnosis & treatment Advertisement Mayo Clinic does not endorse companies or products. ... a Job Site Map About This Site Twitter Facebook Google YouTube Pinterest Mayo Clinic is a not- ...

  16. 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.

  17. 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

  18. Accumulation of glycated proteins suggesting premature ageing in lamin B receptor deficient mice.

    Science.gov (United States)

    Hause, Frank; Schlote, Dietmar; Simm, Andreas; Hoffmann, Katrin; Santos, Alexander Navarrete

    2017-10-28

    Accumulation of advanced glycation end products (AGEs) is accompanied by increased free radical activity which contributes to ageing and the development or worsening of degenerative diseases. Apart from other physiological factors, AGEs are also an important biomarker for premature ageing. Here we report protein modifications (glycation) in a mouse model of lamin B receptor deficient ic J /ic J mice displaying skin defects similar to those of classical progeria. Therefore, we analysed AGE-modifications in protein extracts from various tissues of ic J /ic J mice. Our results demonstrated that pentosidine as well as argpyrimidine were increased in ic J /ic J mice indicating a modification specific increase in biomarkers of ageing, especially derived from glycolysis dependent methylglyoxal. Furthermore, the expression of AGE-preventing enzymes (Glo1, Fn3k) differed between ic J /ic J and control mice. The results indicate that not only lamin A but also the lamin B receptor may be involved in ageing processes.

  19. Dapoxetine for premature ejaculation.

    Science.gov (United States)

    2014-03-01

    Premature ejaculation, also referred to as rapid or early ejaculation, is a poorly understood disorder with no single, widely-recognised, evidence-based definition. Studies based on patient self-reporting indicate that premature ejaculation is a common complaint with estimated prevalence ranging from 4%-39% of men in the general community.(1) However, a lack of an accurate validated definition has made comparison of the results of such studies difficult.(2) In addition, perception of normal ejaculatory latency varies by country and differs when assessed by the patient or their partner.(3) ▾Dapoxetine (Priligy-A. Menarini Farmaceutica Internazionale SRL), a short-acting selective serotonin reuptake inhibitor (SSRI) is the first drug to be licensed in the UK for on-demand management of diagnosed premature ejaculation.(4) In this article we review the evidence for dapoxetine and discuss some of the challenges associated with its introduction.

  20. Autoimmune premature ovarian failure

    Directory of Open Access Journals (Sweden)

    Beata Komorowska

    2017-02-01

    Full Text Available Premature ovarian failure (POF, also termed as primary ovarian insufficiency (POI, is a highly heterogenous condition affecting 0.5-3.0% of women in childbearing age. These young women comprise quite a formidable group with unique physical and psychological needs that require special attention. Premature ovarian senescence (POS in all of its forms evolves insidiously as a basically asymptomatic process, leading to complete loss of ovarian function, and POI/POF diagnoses are currently made at relatively late stages. Well-known and well-documented risk factors exist, and the presence or suspicion of autoimmune disorder should be regarded as an important one. Premature ovarian failure is to some degree predictable in its occurrence and should be considered while encountering young women with loss of menstrual regularity, especially when there is a concomitant dysfunction in the immune system.

  1. 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.

  2. Pregnancy Complications: HELLP Syndrome

    Science.gov (United States)

    ... baby Common illnesses Family health & safety Complications & Loss Pregnancy complications Preterm labor & premature birth The newborn intensive care ... Point, NY 10980 Close X Home > Complications & Loss > Pregnancy complications > HELLP syndrome HELLP syndrome E-mail to a ...

  3. Feeding premature neonate

    DEFF Research Database (Denmark)

    Dam, Mie S.; Juhl, Sandra M.; Sangild, Per T.

    2017-01-01

    Kinship, understood as biogenetic proximity, between a chosen animal model and a human patient counterpart, is considered essential to the process of ‘translating’ research from the experimental animal laboratory to the human clinic. In the Danish research centre, NEOMUNE, premature piglets are fed...... a novel milk diet (bovine colostrum) to model the effects of this new diet in premature infants. Our ethnographic fieldwork in an experimental pig laboratory and a neonatal intensive care unit (NICU) in 2013–2014 shows that regardless of biogenetics, daily practices of feeding, housing, and clinical care...... hold the potential for stimulating and eroding kinship relations between human and nonhuman actors. In the laboratory, piglets and researchers form ‘interspecies-milk-kinships’ that entail the intimate care crucial to keeping the compromised piglets alive during the experiments, thereby enhancing what...

  4. Endothelial Microparticles From Acute Coronary Syndrome Patients Induce Premature Coronary Artery Endothelial Cell Aging and Thrombogenicity: Role of the Ang II/AT1 Receptor/NADPH Oxidase-Mediated Activation of MAPKs and PI3-Kinase Pathways.

    Science.gov (United States)

    Abbas, Malak; Jesel, Laurence; Auger, Cyril; Amoura, Lamia; Messas, Nathan; Manin, Guillaume; Rumig, Cordula; León-González, Antonio J; Ribeiro, Thais P; Silva, Grazielle C; Abou-Merhi, Raghida; Hamade, Eva; Hecker, Markus; Georg, Yannick; Chakfe, Nabil; Ohlmann, Patrick; Schini-Kerth, Valérie B; Toti, Florence; Morel, Olivier

    2017-01-17

    Microparticles (MPs) have emerged as a surrogate marker of endothelial dysfunction and cardiovascular risk. This study examined the potential of MPs from senescent endothelial cells (ECs) or from patients with acute coronary syndrome (ACS) to promote premature EC aging and thrombogenicity. Primary porcine coronary ECs were isolated from the left circumflex coronary artery. MPs were prepared from ECs and venous blood from patients with ACS (n=30) and from healthy volunteers (n=4) by sequential centrifugation. The level of endothelial senescence was assessed as senescence-associated β-galactosidase activity using flow cytometry, oxidative stress using the redox-sensitive probe dihydroethidium, tissue factor activity using an enzymatic Tenase assay, the level of target protein expression by Western blot analysis, platelet aggregation using an aggregometer, and shear stress using a cone-and-plate viscometer. Senescence, as assessed by senescence-associated β-galactosidase activity, was induced by the passaging of porcine coronary artery ECs from passage P1 to P4, and was associated with a progressive shedding of procoagulant MPs. Exposure of P1 ECs to MPs shed from senescent P3 cells or circulating MPs from ACS patients induced increased senescence-associated β-galactosidase activity, oxidative stress, early phosphorylation of mitogen-activated protein kinases and Akt, and upregulation of p53, p21, and p16. Ex vivo, the prosenescent effect of circulating MPs from ACS patients was evidenced only under conditions of low shear stress. Depletion of endothelial-derived MPs from ACS patients reduced the induction of senescence. Prosenescent MPs promoted EC thrombogenicity through tissue factor upregulation, shedding of procoagulant MPs, endothelial nitric oxide synthase downregulation, and reduced nitric oxide-mediated inhibition of platelet aggregation. These MPs exhibited angiotensin-converting enzyme activity and upregulated AT1 receptors and angiotensin

  5. 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

  6. The mutant form of lamin A that causes Hutchinson-Gilford progeria is a biomarker of cellular aging in human skin.

    Directory of Open Access Journals (Sweden)

    Dayle McClintock

    2007-12-01

    Full Text Available Hutchinson-Gilford progeria syndrome (HGPS, OMIM 176670 is a rare disorder characterized by accelerated aging and early death, frequently from stroke or coronary artery disease. 90% of HGPS cases carry the LMNA G608G (GGC>GGT mutation within exon 11 of LMNA, activating a splice donor site that results in production of a dominant negative form of lamin A protein, denoted progerin. Screening 150 skin biopsies from unaffected individuals (newborn to 97 years showed that a similar splicing event occurs in vivo at a low level in the skin at all ages. While progerin mRNA remains low, the protein accumulates in the skin with age in a subset of dermal fibroblasts and in a few terminally differentiated keratinocytes. Progerin-positive fibroblasts localize near the basement membrane and in the papillary dermis of young adult skin; however, their numbers increase and their distribution reaches the deep reticular dermis in elderly skin. Our findings demonstrate that progerin expression is a biomarker of normal cellular aging and may potentially be linked to terminal differentiation and senescence in elderly individuals.

  7. Early or Premature Menopause

    Science.gov (United States)

    Skip to main content U.S. Department of Health & Human Services En Español Call the OWH HELPLINE: 800- ... Pregnancy Popular topics Bacterial vaginosis Birth control methods Human papillomavirus (HPV) Infertility Polycystic ovary syndrome (PCOS) Sexually ...

  8. the use of dexamethasone in women with preterm premature rupture

    African Journals Online (AJOL)

    Objective. To assess whether administration of dexamethasone in women with preterm premature rupture of membranes. (PPROM) has an effect on the prevalence of maternal sepsis, neonatal respiratory distress syndrome (RDS), perinatal mortality and neonatal sepsis in a developing country. Setting. Six public hospitals ...

  9. Premature centromere division (PCD): a dominantly inherited cytogenetic anomaly.

    Science.gov (United States)

    Madan, K; Lindhout, D; Palan, A

    1987-10-01

    We describe a family with an increased frequency of cells with premature centromere division (PCD) of all chromosomes in four phenotypically normal individuals. This familial PCD phenomenon is apparently different from the well-described PCD of the X chromosome and from the centromere splitting in cells of patients with Roberts syndrome. Implications for genetic counseling are discussed.

  10. Anaesthetic considerations in a prematurely born infant with ...

    African Journals Online (AJOL)

    Conditions such as congenital bilateral cataract and congenital hypothyroidism may be associated with other birth defects and syndromes. Recommendations for early cataract surgery may necessitate anaesthetising premature infants with postconceptional ages less than 60 weeks, or those who have had recently ...

  11. First Reported Patient with Human ERCC1 Deficiency Has Cerebro-Oculo-Facio-Skeletal Syndrome with a Mild Defect in Nucleotide Excision Repair and Severe Developmental Failure

    OpenAIRE

    Jaspers, Nicolaas G.J.; Raams, Anja; Silengo, Margherita Cirillo; Wijgers, Nils; Niedernhofer, Laura J; Robinson, Andria Rasile; Giglia-Mari, Giuseppina; Hoogstraten, Deborah; Kleijer, Wim J.; Hoeijmakers, Jan H.J.; Vermeulen, Wim

    2007-01-01

    Nucleotide excision repair (NER) is a genome caretaker mechanism responsible for removing helix-distorting DNA lesions, most notably ultraviolet photodimers. Inherited defects in NER result in profound photosensitivity and the cancer-prone syndrome xeroderma pigmentosum (XP) or two progeroid syndromes: Cockayne and trichothiodystrophy syndromes. The heterodimer ERCC1-XPF is one of two endonucleases required for NER. Mutations in XPF are associated with mild XP and rarely with progeria. Mutati...

  12. 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

  13. [Mode of delivery and perinatal outcomes in women with premature rupture of membranes at term].

    Science.gov (United States)

    Hou, L; Wang, X; Zou, L Y; Ruan, Y; Chen, Y; Li, G H; Zhang, W Y

    2016-04-05

    Comparative study of delivery mode and perinatal outcomes in women with premature rupture of membranes at term compared to those with intact membranes. A cross sectional survey of all deliveries in 39 hospitals in 3 geographic regions of mainland China from January 1 to December 31, 2011 was carried out to investigate the demographic data and delivery outcomes. In our analysis of 103 124 pregnancies, 14 073(13.6%) were complicated by premature rupture of membranes. Compared to those with intact membrane, the risks of postpartum hemorrhage, maternal complications and neonatal complications were increased significantly for women with premature rupture of membranes at term, especially the prevalence of neonatal respiratory distress syndrome(NRDS) and meconium aspiration syndrome. The risk of low Apgar (premature rupture of membranes at term. The adverse perinatal outcomes are slightly higher in women with term premature rupture of membranes than those with intact membrane.

  14. Thinking about Pregnancy After Premature Birth

    Science.gov (United States)

    ... between pregnancies > Thinking about pregnancy after premature birth Thinking about pregnancy after premature birth E-mail to ... can you find women like you who are thinking about pregnancy after premature birth? Visit the March ...

  15. Caring for Your Premature Baby

    Science.gov (United States)

    ... doesn’t turn his or her head, or react to a loud noise, tell your doctor.Get ... things that can affect his or her health, learning, and your family’s schedule. Physically, babies born prematurely ...

  16. Retinopathy of Prematurity in Infants with Late Retinal Examination

    Science.gov (United States)

    Mousavi, S. Zeinab; Karkhaneh, Reza; Riazi-Esfahani, Mohammad; Mansouri, Mohammad-Reza; Roohipoor, Ramak; Ghalichi, Leila; Kadivar, Malihe; Nili-Ahmadabadi, Mehdi; Naieri, Fatemeh

    2009-01-01

    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 of severe ROP in particular,were unacceptably high in premature infants with late screening. These findings necessitate interventions to optimize timely referral for screening of premature infants. PMID:23056670

  17. 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 ...

  18. Polycystic ovary syndrome

    African Journals Online (AJOL)

    % of women ... Cushing's syndrome. Ovulatory disorders that mimic PCOS. 1. Hypothalamic and pituitary disorders causing amenorrhoea. 2. Premature ovarian failure ... involving the X chromosome and iatrogenic causes e.g. following surgery ...

  19. MODERN PRODUCTS FOR FEEDING PREMATURE BABIES

    OpenAIRE

    A. V. Surzhik

    2012-01-01

    In recent decades there has been substantial progress in the technology of premature infants nursing, especially with extremely low birth weight. Adequate feeding is one of the fundamental factors of premature babies nursing. To ensure a premature baby with all necessary components for power saving in breast milk intake, breast milk fortifiers — specifically developed additives that adjust the composition of food for premature babies, are used for more than 20 years (for premature babies rece...

  20. Rickets of prematurity: a case report.

    Science.gov (United States)

    Airede, A I

    1991-12-01

    A case report is given, and an attempt made to summarize our knowledge about this disorder. An extremely premature infant (birth weight 750 grammes) developed progressive rickets resulting in fractures despite phosphate, calcium and calciferol (vitamin D) supplementation. The patient had mild respiratory distress syndrome but later developed broncopulmonary dysplasia. Initial biochemical evidence of rickets occurred by the 6th week of post-natal life (or 31 weeks post-conceptional age). Although the serum levels of vitamin D or 1-alphahydroxy vitamin D were not determined, it is assumed that the levels of the active metabolite was probably low since clinical, biochemical and radiologic cure of the rickets occurred following its usage.

  1. Nondetectable cone and rod electroretinographic responses in a patient with Cockayne syndrome.

    Science.gov (United States)

    Ikeda, N; Yamamoto, S; Hayasaka, S; Fukuo, Y; Koike, T

    1995-01-01

    A 10-year-old girl complained or poor vision in both eyes. The patient showed progeria, physical and mental retardation, sensorineural hearing loss, cutaneous photosensitivity, hyperopia, poor pupillary dilation, exotropia, salt-and-pepper fundi, nondetectable cone and rod electroretinographic (ERG) responses, cerebral atrophy on computed tomography, and demyelination of periventricular white matter on magnetic resonance imaging. We believe that nondetectable cone and rod ERG responses in Cockayne syndrome, as demonstrated in our patient, may be uncommon.

  2. Familial aggregation of phenotypic expression of premature hair hypopigmentation in the craniofacial region

    OpenAIRE

    Corey Black

    2015-01-01

    There are many patients who experience premature hypopigmentation of hair, but do not understand the underlying causes and potential dangers associated with them. The causes range from genetic predisposition to environmental influences such as tobacco use. Premature hypopigmentation of the hair shaft can also be associated with many syndromes; some which cause dental anomalies. Today, treatment options are limited for patients, although various studies are being done on mice to target the und...

  3. Retinopathy of prematurity in a controlled trial of prophylactic surfactant treatment.

    OpenAIRE

    Pennefather, P M; Tin, W.; Clarke, M P; Fritz, S.; Strong, N P

    1996-01-01

    AIMS: To investigate the incidence of acute and cicatricial retinopathy of prematurity (ROP) in a cohort of premature neonates entered into a randomised, multicentre trial of prophylactic exogenous surfactant for respiratory distress syndrome (RDS) compared with controls receiving surfactant only if severe RDS developed. METHODS: The incidence of acute and cicatricial ROP was assessed in 304 neonates born at less than 30 weeks' gestation in a geographically defined population of approximately...

  4. Music Therapy with Premature Infants

    Science.gov (United States)

    Standley, Jayne

    2003-01-01

    Over 20 years of research and clinical practice in music therapy with premature infants has been compiled into this text designed for Board Certified Music Therapists specializing in Neonatal Intensive Care clinical services, for NICU medical staff incorporating research-based music therapy into developmental care plans, and for parents of…

  5. 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.

  6. 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

  7. Understanding Retinopathy of Prematurity: Update on Pathogenesis

    National Research Council Canada - National Science Library

    Rivera, José Carlos; Sapieha, Przemyslaw; Joyal, Jean-Sébastien; Duhamel, François; Shao, Zhuo; Sitaras, Nicholas; Picard, Emilie; Zhou, Ellen; Lachapelle, Pierre; Chemtob, Sylvain

    2011-01-01

    Retinopathy of prematurity (ROP), an ocular disease characterized by the onset of vascular abnormalities in the developing retina, is the major cause of visual impairment and blindness in premature neonates...

  8. 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

  9. 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

  10. Genetic contribution to patent ductus arteriosus in the premature newborn.

    Science.gov (United States)

    Bhandari, Vineet; Zhou, Gongfu; Bizzarro, Matthew J; Buhimschi, Catalin; Hussain, Naveed; Gruen, Jeffrey R; Zhang, Heping

    2009-02-01

    The most common congenital heart disease in the newborn population, patent ductus arteriosus, accounts for significant morbidity in preterm newborns. In addition to prematurity and environmental factors, we hypothesized that genetic factors play a significant role in this condition. The objective of this study was to quantify the contribution of genetic factors to the variance in liability for patent ductus arteriosus in premature newborns. A retrospective study (1991-2006) from 2 centers was performed by using zygosity data from premature twins born at Patent ductus arteriosus was diagnosed by echocardiography at each center. Mixed-effects logistic regression was used to assess the effect of specific covariates. Latent variable probit modeling was then performed to estimate the heritability of patent ductus arteriosus, and mixed-effects probit modeling was used to quantify the genetic component. We obtained data from 333 dizygotic twin pairs and 99 monozygotic twin pairs from 2 centers (Yale University and University of Connecticut). Data on chorioamnionitis, antenatal steroids, gestational age, body weight, gender, respiratory distress syndrome, patent ductus arteriosus, necrotizing enterocolitis, oxygen supplementation, and bronchopulmonary dysplasia were comparable between monozygotic and dizygotic twins. We found that gestational age, respiratory distress syndrome, and institution were significant covariates for patent ductus arteriosus. After controlling for specific covariates, genetic factors or the shared environment accounted for 76.1% of the variance in liability for patent ductus arteriosus. Preterm patent ductus arteriosus is highly familial (contributed to by genetic and environmental factors), with the effect being mainly environmental, after controlling for known confounders.

  11. [Premature orgasm in the male].

    Science.gov (United States)

    Köhn, F M

    2003-11-13

    To date, we have no uniform definition of ejaculatio praecox. In a qualitative approach, premature ejaculation is ascribed to a failure to control excitement. As causes, organic disorders and erectile dysfunction must be excluded. The majority of cases, however, are due to psychological or partnership problems. The history-taking should aim, in particular, to uncover possible anxiety in conjunction with premature orgasm, and also to establish the reactions of the partner. As therapy, medication (local anesthetics, antidepressive agents, PDE-5 inhibitors) and sexual-therapeutic measures are available. Since few sufferers take the initiative in seeking treatment, particular importance attaches to providing the public with information about the therapeutic options for treating this common disorder.

  12. MODERN PRODUCTS FOR FEEDING PREMATURE BABIES

    Directory of Open Access Journals (Sweden)

    A. V. Surzhik

    2012-01-01

    Full Text Available In recent decades there has been substantial progress in the technology of premature infants nursing, especially with extremely low birth weight. Adequate feeding is one of the fundamental factors of premature babies nursing. To ensure a premature baby with all necessary components for power saving in breast milk intake, breast milk fortifiers — specifically developed additives that adjust the composition of food for premature babies, are used for more than 20 years (for premature babies receiving breast milk. On the one hand, to preserve all benefits of breastfeeding, on the other — to prevent the deficit development of necessary elements for adequate growth and development of nutrients.

  13. Outcomes of human milk-fed premature infants.

    Science.gov (United States)

    Schanler, Richard J

    2011-02-01

    Significant benefits to infant host defense, sensory-neural development, gastrointestinal maturation, and some aspects of nutritional status are observed when premature infants are fed their mothers' own milk. A reduction in infection-related morbidity in human milk-fed premature infants has been reported in nearly a dozen descriptive, and a few quasi-randomized, studies in the past 25 years. Human milk-fed infants also have decreased rates of rehospitalization for illness after discharge. Studies on neurodevelopmental outcomes have reported significantly positive effects for human milk intake in the neonatal period and long-term mental and motor development, intelligence quotient, and visual acuity through adolescence. Body composition in adolescence also is associated with human milk intake in the neonatal intensive care unit. Finally, human milk intake is less associated with the development of the metabolic syndrome than infant formula feeding. Copyright © 2011 Elsevier Inc. All rights reserved.

  14. Retinopathy of prematurity: screening, incidence and risk factors analysis.

    Science.gov (United States)

    Yang, C S; Chen, S J; Lee, F L; Hsu, W M; Liu, J H

    2001-12-01

    The sequela of retinopathy of prematurity (ROP) is an important cause of infant blindness. This study was designed to screen the high-risk premature infants and investigate the incidence and risk factors associated with the development of ROP. From October 1997 to October 1998, all premature infants with birth body weight (BBW) less than 2000 gm or gestational age (GA) less than 36 weeks were enrolled and underwent ophthalmologic examination at 4 to 6 weeks of age at Taipei Veterans General Hospital. The perinatal variables were analyzed to evaluate their correlation with the development of ROP. In totally 108 premature infants, the incidence for development of ROP was 25% (27 in 108 patients). The threshold ROP occurred in 15 eyes (7%). The average BBW and GA (1267+/-341 gm and 29.7+/-2.7 weeks) were significantly lower in ROP group than in the non-ROP group (1703+/-368 gm and 32.3+/-2.2 weeks). The artificial ventilation for more than 5 days, chronic lung disease and periventricular leukomalacia were significant risk factors associated with highest rate of ROP. The respiratory distress syndrome, intraventricular hemorrhage, congenital heart disease and sepsis were significant risk factors accompanied by moderate rate of ROP. Low birth body weight and young gestational age are the most important risk factors in the development of ROP. The analysis of risk factors will be helpful in understanding and prediction of ROP formation in high-risk neonates. The timely clinical screening retina examination of high-risk premature infants is important to prevent the development of advanced ROP.

  15. Genetics Home Reference: Pfeiffer syndrome

    Science.gov (United States)

    ... causing prolonged signaling, which can promote the premature fusion of skull bones and affect the development of bones in the hands and feet. Learn more about the genes associated with Pfeiffer syndrome FGFR1 FGFR2 Related Information ...

  16. Prebiotic oligosaccharides in premature infants.

    Science.gov (United States)

    Underwood, Mark A; Kalanetra, Karen M; Bokulich, Nicholas A; Mirmiran, Majid; Barile, Daniela; Tancredi, Daniel J; German, J Bruce; Lebrilla, Carlito B; Mills, David A

    2014-03-01

    The aim of the study was to determine the impact of increasing doses of 2 prebiotic oligosaccharides and of an "all-human diet" on the intestinal microbiota of premature infants. Twelve premature infants receiving formula feedings were randomly assigned to receive either galacto-oligosaccharide (F+GOS) or a pooled concentrated donor human milk product containing human milk oligosaccharides (F+HMO) in increasing doses during a 5-week period. A second group of 15 premature infants received their mother's own milk fortified with either a concentrated donor human milk product (H+H) or a bovine powdered fortifier (H+B). Serial stool specimens from each infant were analyzed by terminal restriction fragment length polymorphism and quantitative polymerase chain reaction for bacterial composition. All of the infants studied had relatively low levels of bifidobacteria and no measurable Lactobacilli. Infants from the F+GOS and F+HMO groups demonstrated an increase in relative numbers of Clostridia with increasing doses. Compared with the H+B group, the infants in the F+HMO and the H+H groups showed an unexpected trend toward an increase in γ-Proteobacteria over time/dose. Principal coordinate analyses and Shannon diversity scores were not significantly different among the 4 groups. Infants in the H+H group received more antibiotics during the study period than those in the other groups. Two of the infants receiving GOS developed feeding intolerance. None of the prebiotic interventions resulted in significant increases in bifidobacteria compared with baseline specimens or the H+B group; however, many of the infants did not receive the highest doses of GOS and HMO, and antibiotic use in the H+H group was high.

  17. Metabolic bone disease of prematurity

    Directory of Open Access Journals (Sweden)

    Stacy E. Rustico, MD

    2014-09-01

    Full Text Available Metabolic bone disease (MBD of prematurity remains a significant problem for preterm, chronically ill neonates. The definition and recommendations for screening and treatment of MBD vary in the literature. A recent American Academy of Pediatrics Consensus Statement may help close the gap in institutional variation, but evidence based practice guidelines remain obscure due to lack of normative data and clinical trials for preterm infants. This review highlights mineral homeostasis physiology, current recommendations in screening and monitoring, prevention and treatment strategies, and an added perspective of a bone health team serving a high volume referral neonatal intensive care center.

  18. [Premature ejaculation: pills or sexology?].

    Science.gov (United States)

    Wisard, M; Audette, N

    2008-03-26

    Premature ejaculation (PE) is a frequent male sexual complaint that affects 20 to 30% of men. The exact aetiology is unknown: psychological/behavioristic and biogenic etiologies have been proposed. The introduction of selective serotonin reuptake inhibitors (SSRI) was revolutionary in the medical treatment of PE. However precautions should be taken because of potential adverse side effects. There is no clear consensus as to whether SSRI may represent an eventual cure of PE or will be required for life. The sexocorporal approach is an other treatment of PE, but convincing scientific treatment data are also lacking.

  19. Desenvolvimento cognitivo e de linguagem expressiva em um par de gêmeos dizigóticos: influência da síndrome de Down e da prematuridade associada ao muito baixo peso Expressive language and cognitive development in a dizygotic twin pair: influence of Down syndrome and prematurity combined with very low birth-weight

    Directory of Open Access Journals (Sweden)

    Fabíola Custódio Flabiano

    2009-01-01

    Full Text Available O objetivo deste estudo foi descrever o desenvolvimento cognitivo e de linguagem expressiva de uma criança com síndrome de Down (SD e seu gemelar, ambos nascidos pré-termo muito baixo peso (PTMBP, observando a influência da SD e da prematuridade associada ao muito baixo peso no processo de desenvolvimento durante o período sensório-motor. Participaram deste estudo um par de gêmeos dizigóticos, ambos do sexo masculino, nascidos PTMBP, sendo que apenas um apresentava SD. A idade inicial dos sujeitos foi de sete meses e quatro dias de idade cronológica e quatro meses e 21 dias de idade corrigida, considerando que nasceram com 29 semanas de gestação, pesando menos de 1500g. Os sujeitos foram acompanhados durante 12 meses em sessões quinzenais de 45 minutos e os dados foram registrados mensalmente em vídeo. O Protocolo para Observação do Desenvolvimento Cognitivo e de Linguagem Expressiva (PODCLE foi utilizado para coleta e análise dos dados. Foram observadas diferenças significativas entre os gêmeos com relação ao desenvolvimento cognitivo e de linguagem expressiva. Apesar de apresentar melhor desempenho, o gemelar que não apresentava SD demonstrou um atraso importante, considerando-se as referências em relação ao desenvolvimento típico, evidenciando a influência da prematuridade associada ao muito baixo peso no desenvolvimento de linguagem e cognição. Os resultados obtidos para o outro gemelar sugerem que a SD levou ao aumento significativo deste atraso. A SD e a prematuridade associada ao muito baixo peso são condições que interferiram de forma negativa no desenvolvimento cognitivo e de linguagem expressiva apresentado pelo par de gêmeos estudado.The aim of this study was to describe expressive language and cognitive development in a child with Down syndrome (DS and his twin brother, both born preterm very low birth-weight (VLBW, observing the influence of Down syndrome and prematurity combined with very low birth

  20. Surfactant use in premature neonates <37 weeks gestation: Experience and outcome at a tertiary care hospital.

    Science.gov (United States)

    Khan, Ejaz Ahmed; Hashmey, Ibrar

    2015-05-01

    To assess a single-centre experience and outcome of premature neonates who received surfactant therapy. The prospective cohort study was done at Shifa International Hospital, Islamabad, from December 2005 to May 2007 and comprised premature neonates (surfactant therapy. SPSS 21 was used for statistical analysis. A total of 52 premature neonates received surfactant. Mean gestational age was 29±2.8 weeks and mean birth weight was 1273±487gms. Only 16(31%) mothers had received antenatal dexamethasone. Surfactant was used as single dose in 41(78%) neonates at 6.1±6.6hours of life or two doses in 11(22%). Chest X-ray and respiratory distress syndrome category showed an overall improvement in 29 (56%) neonates. Complications were seen in 17(33%) neonates, and 21(40%) died. Mortality was significantly associated with gestation (pSurfactant administration is an option for respiratory distress syndrome in Pakistan.

  1. Acute retinal necrosis and cystic encephalomalacia in a premature neonate.

    Science.gov (United States)

    Wong, Ryan K; Khanifar, Aziz A; Sun, Grace; Heier, Linda A; Saffra, Norman; Chan, R V Paul

    2010-01-01

    To report a case of an infant born at 30 weeks gestational age (GA) who, at 37 weeks GA, presented with bilateral acute retinal necrosis (ARN) syndrome and herpes simplex virus (HSV) encephalomalacia. Observational case report. A premature infant was found to have ARN based on dilated funduscopic examination and positive HSV serologies. Herpes simplex virus encephalomalacia was diagnosed base on magnetic resonance imaging (MRI). To our knowledge, this is the youngest reported patient with ARN. This case demonstrates that neonatal ARN may present with posterior chorioretinal lesions and highlights the importance of considering HSV infection of the central nervous system with MRI findings of cystic encephalomalacia.

  2. Premature ventricular contractions associated with isotretinoin use.

    Science.gov (United States)

    Alan, Sevil; Ünal, Betül; Yildirim, Aytül

    2016-01-01

    Isotretinoin has been considered a unique drug for acne treatment. However, it is associated with numerous adverse effects. Isotretinoin can trigger premature ventricular contractions. This report describes a 33-year-old-woman who presented with palpitations for 1 week while undergoing 1-month isotretinoin treatment for mild-moderate facial acne. An electrocardiogram and Holter monitoring showed premature ventricular contractions during isotretinoin (Roaccutane, Roche) treatment. Isotretinoin-related premature ventricular contractions were strongly suggested in this case due to the existence of documented premature ventricular contractions on electrocardiograms and the disappearance of these premature ventricular contractions two weeks after termination of the treatment To the authors' knowledge, there has been 1 reported case of premature ventricular contractions linked to isotretinoin use; this report describes a second such case.

  3. An adult case of Cockayne syndrome without sclerotic angiopathy.

    Science.gov (United States)

    Inoue, T; Sano, N; Ito, Y; Matsuzaki, Y; Okauchi, Y; Kondo, H; Horiuchi, N; Nakao, K; Iwata, M

    1997-08-01

    We report an autopsy case of Cockayne syndrome (CS). A 40-year-old Japanese woman was admitted to our hospital for cachexia. She had displayed the striking features of CS, including dwarfism, mental retardation, neural deafness, ataxia, intracranial calcifications, and progeria since her childhood. Endocrinological examinations suggested normal pituitary function and a disorder of the hypothalamus or the cerebrum. She died of acute pneumonia at the age of 42. Autopsy findings showed typical abnormalities in the central nervous system compatible with CS; however, no atherosclerotic change was observed in the systemic arteries.

  4. The Premature Debate on CERP Effectiveness

    Science.gov (United States)

    2011-09-01

    management U .S . A rm y (R ic ha rd D an ie ls , J r.) THE PREMATURE DEBATE ON CERP EFFECTIVENESSFISCHERKELLER PRISM 2, no. 4 LESSONS LEARNED...Michael Fischerkeller is Director of the Joint Advanced Warfighting Division at the Institute for Defense Analyses. The Premature Debate on CERP...others U .S . A rm y PRISM 2, no. 4 LESSONS LEARNED | 141140 | LESSONS LEARNED PRISM 2, no. 4 THE PREMATURE DEBATE ON CERP EFFECTIVENESSFISCHERKELLER

  5. Pregnancy-related conditions and premature coronary heart disease in adult offspring

    NARCIS (Netherlands)

    Qanitha, Andriany; De Mol, Bastianus A.J.M.; Burgner, David P.; Kabo, Peter; Pabittei, Dara R.; Yusuf, Irawan; Uiterwaal, Cuno S.P.M.|info:eu-repo/dai/nl/136603947

    2017-01-01

    Objective To investigate the association between complications during pregnancy and premature coronary heart disease in adult offspring. Methods We conducted a population-based case-control study of 153 Indonesian patients with a first acute coronary syndrome (ACS) (age ≤55 years) and 153

  6. Turner Syndrome

    Directory of Open Access Journals (Sweden)

    Ramachandran Sudarshan

    2012-08-01

    Full Text Available Turner syndrome is a genetic disorder that affects mostly females. Affected females have characteristic features such as short stature, premature ovarian failure, and several other features. Oral manifestations of this condition are not much discussed in the literature. But reported literature includes teeth, palate, periodontal and salivary changes. So the aim of this review is to illustrate the general manifestations, and especially the oral manifestations of Turner syndrome and evaluate their possible management. [Archives Medical Review Journal 2012; 21(4.000: 246-252

  7. 28 CFR 51.22 - Premature submissions.

    Science.gov (United States)

    2010-07-01

    ... 28 Judicial Administration 2 2010-07-01 2010-07-01 false Premature submissions. 51.22 Section 51.22 Judicial Administration DEPARTMENT OF JUSTICE (CONTINUED) PROCEDURES FOR THE ADMINISTRATION OF... § 51.22 Premature submissions. The Attorney General will not consider on the merits: (a) Any proposal...

  8. 7 CFR 29.2290 - Premature primings.

    Science.gov (United States)

    2010-01-01

    ... 7 Agriculture 2 2010-01-01 2010-01-01 false Premature primings. 29.2290 Section 29.2290 Agriculture Regulations of the Department of Agriculture AGRICULTURAL MARKETING SERVICE (Standards... 21) § 29.2290 Premature primings. Ground leaves harvested before reaching complete growth and...

  9. Human cytomegalovirus infections in premature infants by ...

    African Journals Online (AJOL)

    Freezing breast milk may be protective for the preterm infant until the titer of CMV antibody increases. However clinical importance of CMV infection in premature infants by breast-feeding is still unclear. This minireview focuses on recent advances in the study of CMV infection in premature infants by breastfeeding.

  10. PECULIARITIES OF BREAST FEEDING OF PREMATURE CHILDREN

    OpenAIRE

    V.К. Kotlukov; L.G. Kuzmenko; N.V. Antipova; М.V. Polyakov

    2011-01-01

    The article presents main strategies of breast feeding of prematurely born infants support, such as use of Philips AVENT breast pumpfor lactation formation and feeding of the infant with native breast milk.Key words: premature infants, nursing mother, breast feeding support, modern accessories for breast feeding support. (Voprosy sovremennoi pediatrii — Current Pediatrics. 2011; 10 (6): 170–175)

  11. Exome sequencing reveals a de novo POLD1 mutation causing phenotypic variability in mandibular hypoplasia, deafness, progeroid features, and lipodystrophy syndrome (MDPL).

    Science.gov (United States)

    Elouej, Sahar; Beleza-Meireles, Ana; Caswell, Richard; Colclough, Kevin; Ellard, Sian; Desvignes, Jean Pierre; Béroud, Christophe; Lévy, Nicolas; Mohammed, Shehla; De Sandre-Giovannoli, Annachiara

    2017-06-01

    Mandibular hypoplasia, deafness, progeroid features, and lipodystrophy syndrome (MDPL) is an autosomal dominant systemic disorder characterized by prominent loss of subcutaneous fat, a characteristic facial appearance and metabolic abnormalities. This syndrome is caused by heterozygous de novo mutations in the POLD1 gene. To date, 19 patients with MDPL have been reported in the literature and among them 14 patients have been characterized at the molecular level. Twelve unrelated patients carried a recurrent in-frame deletion of a single codon (p.Ser605del) and two other patients carried a novel heterozygous mutation in exon 13 (p.Arg507Cys). Additionally and interestingly, germline mutations of the same gene have been involved in familial polyposis and colorectal cancer (CRC) predisposition. We describe a male and a female patient with MDPL respectively affected with mild and severe phenotypes. Both of them showed mandibular hypoplasia, a beaked nose with bird-like facies, prominent eyes, a small mouth, growth retardation, muscle and skin atrophy, but the female patient showed such a severe and early phenotype that a first working diagnosis of Hutchinson-Gilford Progeria was made. The exploration was performed by direct sequencing of POLD1 gene exon 15 in the male patient with a classical MDPL phenotype and by whole exome sequencing in the female patient and her unaffected parents. Exome sequencing identified in the latter patient a de novo heterozygous undescribed mutation in the POLD1 gene (NM_002691.3: c.3209T>A), predicted to cause the missense change p.Ile1070Asn in the ZnF2 (Zinc Finger 2) domain of the protein. This mutation was not reported in the 1000 Genome Project, dbSNP and Exome sequencing databases. Furthermore, the Isoleucine1070 residue of POLD1 is highly conserved among various species, suggesting that this substitution may cause a major impairment of POLD1 activity. For the second patient, affected with a typical MDPL phenotype, direct sequencing

  12. 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

  13. 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

  14. [Sexological intervention on premature ejaculation].

    Science.gov (United States)

    San Martín Blanco, C

    2014-07-01

    Strategies, recommendations and techniques proposed by sex therapy for intervention on premature ejaculation, have represented for nearly four decades the most effective model of intervention in this sexual dysfunction, which currently is complemented by the efficacy of dapoxetine drug treatment. Clinical experience and recent studies support that combined intervention offers the best therapeutic results. In addition in sex therapy, etiologic diagnosis is obtained from the analysis of the interrelationship of the couple. Diagnostic and therapeutic intervention has to be always centered in the relationship, so the techniques and resources must be applied with the expectation of being implemented in the sexual interaction. It will therefore be the relationship that receive treatment, even if medication is used for one of the members of the couple. On the other hand, this model of intervention can be implemented by a professional with training, although not necessarily a specialist. Copyright © 2014 Elsevier España, S.L.U. y Sociedad Española de Medicina Rural y Generalista (SEMERGEN). All rights reserved.

  15. Maternal assessment of pain in premature infants

    Directory of Open Access Journals (Sweden)

    Maria Carolina Correia dos Santos

    2015-12-01

    Full Text Available Objective: to identify mothers' perceptions about the pain in their premature babies in the Neonatal Intensive Care Unit. Methods: evaluative, quantitative study with investigative nature conducted with 19 mothers of hospitalized premature newborns. Data were obtained from closed questions, answered by mothers. Results: from the participants, two (10.5% reported that newborns are unable to feel pain. From the 17 mothers who said that premature babies can feel pain, the majority (94.1% identified crying as a characteristic of pain sensation. Eleven (64.7% stated that uneasiness is a sign of pain in newborns. Conclusion: for the proper management of neonatal pain it is essential that mothers know the signs of pain in premature newborns, and that health professionals instruct this recognition, through the enhancement of the maternal presence and practice of effective communication between professionals and newborns’ families.

  16. 7 CFR 29.1050 - Prematurity.

    Science.gov (United States)

    2010-01-01

    ... leaves of the tobacco plant. Premature leaves have some appearance of ripeness due to a process of starvation caused by translocation of plant food elements from these leaves to other leaves higher on the...

  17. Syndromes with supernumerary teeth.

    Science.gov (United States)

    Lubinsky, Mark; Kantaputra, Piranit Nik

    2016-10-01

    While most supernumerary teeth are idiopathic, they can be associated with a number of Mendelian syndromes. However, this can also be a coincidental finding, since supernumerary teeth occur in 6% or more of the normal population. To better define this relationship, we analyzed the evidence for specific associations. We excluded conditions with a single affected patient reported, supernumerary teeth adjacent to clefts or other forms of alveolar disruption (as secondary rather than primary findings), and natal teeth, which can involve premature eruption of a normal tooth. Since, the cause of supernumerary teeth shows considerable heterogeneity, certain findings are less likely to be coincidental, such as five or more supernumerary teeth in a single patient, or locations outside of the premaxilla. We found only eight genetic syndromes with strong evidence for an association: cleidocranial dysplasia; familial adenomatous polyposis; trichorhinophalangeal syndrome, type I; Rubinstein-Taybi syndrome; Nance-Horan syndrome; Opitz BBB/G syndrome; oculofaciocardiodental syndrome; and autosomal dominant Robinow syndrome. There is also suggestive evidence of an association with two uncommon disorders, Kreiborg-Pakistani syndrome (craniosynostosis and dental anomalies), and insulin-resistant diabetes mellitus with acanthosisnigricans. An association of a Mendelian disorder with a low frequency manifestation of supernumerary teeth is difficult to exclude without large numbers, but several commonly cited syndromes lacked evidence for clear association, including Hallermann-Streiff syndrome, Fabry disease, Ehlers-Danlos syndrome, Apert and Crouzon syndromes, Zimmermann-Laband syndrome, and Ellis-van Creveld syndrome. © 2016 Wiley Periodicals, Inc. © 2016 Wiley Periodicals, Inc.

  18. Progress on study of the risk factors of retinopathy of prematurity

    Directory of Open Access Journals (Sweden)

    Hong-Cheng Gao

    2018-01-01

    Full Text Available Retinopathy of prematurity(ROPis an ocular disease caused by retinal ophthalmic dysplasia in premature infants, leads to strabismus, amblyopia, cataract, glaucoma, and even blindness, which seriously affects the quality of life of preterm infants. The infant blindness ratio has climbed to 6%-18%, according to figures released by the World Health Organisation. ROP is the primary cause of blindness in children of the world in recent years. But the pathogenesis of ROP is not yet clear. Gestational age, birth weight, oxygen intake, delivery mode, multiple newborns, neonatal respiratory distress syndrome, anemia, blood transfusion, sepsis, infection, hypercapnia, hyperbilirubinemia, maternal prenatal use of a drug are all the risk factors. We reviewed the risk factors and possible mechanism of ROP, in order to offer theoretical support for the study and prevention of ROP in premature infants.

  19. IMPLICATIONS OF PREMATURE LOSS OF PRIMARY MOLARS

    Directory of Open Access Journals (Sweden)

    Ana PETCU

    2016-06-01

    Full Text Available The pathology of premature loss of temporary molars is a complex issue with profound impact on dental and facial harmony, urging clinician`s interest for an optimal therapeutic approach. Identification of the predisposing factors, in full agreement with the anatomical particularities of the temporary teeth, corroborated with the incidence of premature loss of molars is a main condition for an optimal therapeutic management of these patients.

  20. Premature dental eruption: report of case.

    LENUS (Irish Health Repository)

    McNamara, C M

    2011-08-05

    This case report reviews the variability of dental eruption and the possible sequelae. Dental eruption of the permanent teeth in cleft palate children may be variable, with delayed eruption the most common phenomenon. A case of premature dental eruption of a maxillary left first premolar is demonstrated, however, in a five-year-old male. This localized premature dental eruption anomaly was attributed to early extraction of the primary dentition, due to caries.

  1. An Ecological Model for Premature Infant Feeding

    OpenAIRE

    White-Traut, Rosemary; Norr, Kathleen

    2009-01-01

    Premature infants are at increased risk for poor health, feeding difficulties, and impaired mother-infant interaction leading to developmental delay. Social-environmental risks, such as poverty or minority status, compound these biologic risks, placing premature infants in double jeopardy. Guided by an ecological model, the Hospital-Home Transition: Optimizing Prematures’ Environment (H-HOPE) intervention combines the Auditory, Tactile, Visual, and Vestibular intervention with participatory g...

  2. PECULIARITIES OF BREAST FEEDING OF PREMATURE CHILDREN

    Directory of Open Access Journals (Sweden)

    V.К. Kotlukov

    2011-01-01

    Full Text Available The article presents main strategies of breast feeding of prematurely born infants support, such as use of Philips AVENT breast pumpfor lactation formation and feeding of the infant with native breast milk.Key words: premature infants, nursing mother, breast feeding support, modern accessories for breast feeding support. (Voprosy sovremennoi pediatrii — Current Pediatrics. 2011; 10 (6: 170–175

  3. Neuro-ophthalmic manifestations of prematurity

    OpenAIRE

    Preeti Patil Chhablani; Ramesh Kekunnaya

    2014-01-01

    Increasing rates of preterm births coupled with better survival of these infants have resulted in higher prevalence of systemic and ocular complications associated with prematurity. In addition to retinopathy of prematurity, infants who are born preterm may suffer from severe visual impairment as a result of hypoxic ischemic encephalopathy, hypoglycemia, and other metabolic imbalances. The effect of these processes on the anterior visual pathway may result in optic atrophy, optic nerve hypopl...

  4. DHAT SYNDROME REVISITED

    OpenAIRE

    Singh, Gurmeet

    1985-01-01

    SUMMARY Fifty consequetive patients of male potency disorders were examined and classified as Dhat Syndrome, Impotence or Premature ejaculation depending on definition laid down for these. Dhat syndrome has been found predominantly in young adults. Thirty one patients (62%) complained of Dhat as a major symptom. Associated diagnosis was depression (48%) and anxiety neurosis (16%). No psychiatric disorder was noticed in 16 (32%) cases. The socio-demographic relationships are given and difficul...

  5. Dhat syndrome revisited.

    Science.gov (United States)

    Singh, G

    1985-04-01

    Fifty consequetive patients of male potency disorders were examined and classified as Dhat Syndrome, Impotence or Premature ejaculation depending on definition laid down for these. Dhat syndrome has been found predominantly in young adults. Thirty one patients (62%) complained of Dhat as a major symptom. Associated diagnosis was depression (48%) and anxiety neurosis (16%). No psychiatric disorder was noticed in 16 (32%) cases. The socio-demographic relationships are given and difficulty in handling such patients has been discussed.

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

    Directory of Open Access Journals (Sweden)

    Sudha Nallasamy

    2009-01-01

    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 (<1500 grams or ≥1500 grams. Design This is a retrospective chart review. Methods We reviewed the charts of 137 patients who underwent open fetal/fetoscopic surgery from 1996–2004. Surgical indications included twin-twin transfusion syndrome (TTTS, myelomeningocele (MMC, congenital diaphragmatic hernia (CDH, sacrococcygeal teratoma (SCT, cystic adenomatoid malformation of the lung (CCAM, and twin reversed arterial perfusion sequence (TRAP. Of these, 17 patients had local ROP examination data. Binomial tests were performed to assess whether rates of ROP in our fetal/fetoscopic surgery cohort were significantly different from published rates. Results There were 5 patients each with an underlying diagnosis of TTTS and MMC, 2 patients each with CDH and TRAP, and 1 patient each with SCT, CCAM, and mediastinal teratoma. The mean gestational age at surgery was 23 4 / 7 ± 2 3 / 7 weeks, mean gestational age at birth was 30 ± 2 5 / 7 weeks, and mean birth weight was 1449 ± 510 grams (610–2485. Compared to published rates of ROP and threshold ROP, our fetal surgery patients had significantly higher rates of ROP and threshold ROP in both the <1500 grams and the ≥1500 grams group (all p-values <0.05. Conclusions Fetal/fetoscopic surgery appears to significantly increase the rate of ROP and threshold ROP development. Greater numbers are needed to confirm these observations.

  7. 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.

  8. Electromyography of muscles involved in feeding premature infants.

    Science.gov (United States)

    Martins, Camila Dantas; Furlan, Renata Maria Moreira Moraes; Motta, Andréa Rodrigues; Viana, Maria Cândida Ferrarez Bouzada

    2015-01-01

    To measure and compare the electrical activity of masseter, temporal, and suprahyoid muscles in premature newborn infants during breast-feeding and cup-feeding. This cross-sectional observational study was carried out by the electromyographic assessment of 36 preterm infants, 53% of whom were male, with mean gestational age of 32 weeks and birth weight of 1,719 g, fed via oral route, by full breast-feeding and supplementation of diet, through cup with expressed breast milk, until 15 days after hospital discharge. Children with neurological disorders, genetic syndromes, oral-motor, and/or congenital malformations were excluded. The different methods of feeding and the variables gestational age at birth, corrected gestational age, chronological age, birth weight and size, head circumference, and Apgar scores at 1 and 5 minutes were analyzed and compared by appropriate statistical analysis. No difference was observed between breast-feeding and cup-feeding in the analysis of the temporal and masseter muscles. However, higher activity of suprahyoid musculature was observed during cup-feeding (p=0.001). The other variables were not correlated with the electrical activity of the muscles during the different feeding methods. There may be a balance between the activity of the temporal and masseter muscles during breast-feeding and cup-feeding. There was higher activity of suprahyoid musculature during cup-feeding. This can be explained by the greater range of tongue movement, as premature infants usually perform tongue protrusion to get the milk from the cup.

  9. [Cockayne syndrome and epidermolysis bullosa dystrophica (Hallopeau-Siemens). Simultaneous occurrence in a family].

    Science.gov (United States)

    Lubach, D; Riechers, U

    1982-09-01

    A Turkish family with four children is described, two boys suffering from Cockayne's syndrome and a girl from recessive dystrophic epidermolysis bullosa (Hallopeau-Siemens). The outstanding features in the brothers are a pronounced delay in growth which began in both children at the age of about 1.5 years, progeria-like facial features, and a high degree of light sensitivity noticed very soon after birth. The daughter died of septicemia at the age of 4 years. Both diseases are rare and probably the consequence of extremely high consanguinity.

  10. [Neonatal progeroid syndrome (Wiedemann-Rautenstrauch). A follow-up study].

    Science.gov (United States)

    Rautenstrauch, T; Snigula, F; Wiedemann, H R

    1994-01-01

    The diagnostic criteria of the neonatal progeroid syndrome (NPS) are: intrauterine and postnatal growth failure, hydrocephalic appearance, prominent scalp veins, old-looking face, absence of subcutaneous fat and neonatal teeth. Until now altogether nine cases have been reported, which were predominant diagnosed in infant age. The NPS is in general assigned to the autosomal recessive trait. With increasing age the outward appearance stays unchanged. The in 1977 under diagnose progeria presented patient is now 16 years old. With her a considerable atactic movement disturbance developed next to a psychomotoric retardation. The change in metabolism of proteoglycane that was remarkable in infant age is now no longer provable.

  11. Emerging treatments for premature ejaculation: focus on dapoxetine

    Directory of Open Access Journals (Sweden)

    Wayne JG Hellstrom

    2008-12-01

    Full Text Available Wayne JG HellstromChief, Section of Andrology, Department of Urology, Tulane University School of Medicine, New Orleans, LA, USAAbstract: Premature ejaculation (PE is a common problem in men worldwide. It has a significant impact on affected men and their partners in terms of self-esteem, dissatisfaction with their sexual relationships, personal distress, and interpersonal difficulty. Psychological therapies may achieve short-term improvements, but there are limited data on the long-term success of these methods. Oral therapy with long-acting selective serotonin reuptake inhibitors (SSRIs improves intravaginal ejaculatory latency time (IELT, but these agents are designed to be administered daily and may be associated with unwanted sexual side effects and withdrawal symptoms upon abrupt discontinuation. Dapoxetine is a short-acting SSRI that can be taken as needed (prn by men with PE. It has been studied in five separate multicenter, randomized, double-blind, placebo-controlled trials involving more than 6000 men with PE. In four studies that evaluated IELT as an endpoint (N = 4843, dapoxetine 30 and 60 mg prn achieved statistically significant increases in IELT versus placebo. Dapoxetine also showed statistically significant improvements in perceived control over ejaculation, PE-related personal distress, and other patient-reported outcomes in all five trials. Dapoxetine treatment is generally well-tolerated, with low incidences of discontinuation syndrome, sexual dysfunction, and treatment-emergent mood symptoms. The most common adverse events with dapoxetine included nausea, diarrhea, headache, dizziness, and somnolence.Keywords: dapoxetine, discontinuation syndrome, premature ejaculation, selective serotonin reuptake inhibitor

  12. Premature Ejaculation and Utilization of Cognitive Techniques

    Directory of Open Access Journals (Sweden)

    Serkan AKKOYUNLU

    2013-03-01

    Full Text Available Introduction: Premature ejaculation is the most common male sexual dysfunction leading to distress in many couples. Master and Johnson emphasized the concept of early learned experiences and Kaplan emphasized lack of sensory awareness. For treatment sex therapists mainly utilize start-stop and squeeze techniques as homework. Couples enter sex therapy with some cognitive distortions and beliefs about sex and sexuality. These beliefs are also named sexual myths. For some couples using techniques to challenge cognitive distortions and maladaptive beliefs about sex and sexuality can be used. In this paper by presenting a case we discussed how cognitive techniques can be used along with behaviour techniques with couples. Case: Presenting clients are five years married couple who are thirty and twenty nine years old respectively. They attended to the outpatient clinic with the request of the female client. Their main complaint was premature ejaculation. They were diagnosed premature ejaculation using clinical interview. In treatment besides start and stop technique, cognitive techniques were utilized to address dysfunctional beliefs about sexuality. Discussion: Premature ejaculation is a male sexual dysfunction that causes distress and intimacy problems between couples. Stop start and squeeze techniques were accepted as the choice of treatment but their effectiveness is questioned recently. Also cognitive distortions and maladaptive beliefs may hamper therapy progress. Besides that, behavioral techniques utilizing cognitive techniques to lessen the degree of dysfunctional beliefs about sex and sexuality may help the couple to overcome premature ejaculation and enhance sexual satisfaction and intimacy.

  13. Discrepancy between electroencephalography and hemodynamics in a patient with Cockayne syndrome during general anesthesia.

    Science.gov (United States)

    Tsukamoto, Masanori; Hitosugi, Takashi; Yokoyama, Takeshi

    2016-12-01

    Cockayne syndrome is a kind of progeria with autosomal chromosome recessiveness described first by Cockayne in 1936. Patients with this syndrome were characterized by retarded growth, cerebral atrophy, and mental retardation. We experienced an anesthetic management of a patient with Cockayne syndrome, who underwent dental treatment twice. The primary concern was discrepancy between electroencephalography and hemodynamics. The values of bispectral index showed a sharp fall to 1 digit and suppression ratio more than 40, while hemodynamics was stable during induction of anesthesia with sevoflurane 8%. We should pay attention to anesthetic depth in the central nervous system in patients with Cockayne syndrome. Titration of anesthetics should be performed by the information from electroencephalography. Copyright © 2016 Elsevier Inc. All rights reserved.

  14. Cockayne syndrome group B protein promotes mitochondrial DNA stability by supporting the DNA repair association with the mitochondrial membrane

    National Research Council Canada - National Science Library

    Aamann, Maria D; Sorensen, Martin M; Hvitby, Christina; Berquist, Brian R; Muftuoglu, Meltem; Tian, Jingyan; de Souza-Pinto, Nadja C; Scheibye-Knudsen, Morten; Wilson, 3rd, David M; Stevnsner, Tinna; Bohr, Vilhelm A

    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...

  15. [A-type lamins and progeroïd syndromes : persistent farnesylation with dramatic effects].

    Science.gov (United States)

    Navarro, Claire L; Poitelon, Yannick; Lévy, Nicolas

    2008-10-01

    Hutchinson-Gilford Progeria (HGPS), a rare and severe developmental disorder characterized by features recalling premature aging, and Restrictive Dermopathy (RD), a neonatal lethal genodermatosis, have recently been identified as being primary or secondary . These heterogeneous disorders are caused by altered Lamin maturation pathway. In physiological conditions, mature Lamin A is obtained through a series of post-translational processing steps performed on a protein precursor, Prelamin A. The major pathophysiological mechanism involved in Progeria is an aberrant splicing due to a de novo heterozygous point mutation, leading to the accumulation of truncated Lamin A precursor. The same aberrant splicing mechanism was involved in RD, whereas the majority of RD cases are caused by ZMPSTE24/FACE1 inactivation, a key enzyme involved in the Lamin A maturation pathway. In functional terms, all these conditions share the same pathophysiological mechanism, i.e. the intranuclear accumulation of Lamin A precursors, which cannot be fully processed and exert a toxic effect on nuclear homeostasis. In this article, we review the structure and functions of A-type Lamins, focusing namely on HGPS, RD or MAD disorders, in relation to existing animal models and possible future therapeutic approaches.

  16. The circadian variation of premature atrial contractions

    DEFF Research Database (Denmark)

    Larsen, Bjørn Strøier; Kumarathurai, Preman; Nielsen, Olav W

    2016-01-01

    AIMS: The aim of the study was to assess a possible circadian variation of premature atrial contractions (PACs) in a community-based population and to determine if the daily variation could be used to assess a more vulnerable period of PACs in predicting later incidence of atrial fibrillation (AF...... variation in heart rate. After adjusting for relevant risk factors, the risk of AF was equal in all time intervals throughout the day. CONCLUSION: Premature atrial contractions showed a circadian variation in subjects with frequent PACs. No specific time interval of the day was more predictive of AF than...

  17. Premature Ejaculation and Utilization of Cognitive Techniques

    Directory of Open Access Journals (Sweden)

    Serkan AKKOYUNLU

    2013-04-01

    Discussion: Premature ejaculation is a male sexual dysfunction that causes distress and intimacy problems between couples. Stop start and squeeze techniques were accepted as the choice of treatment but their effectiveness is questioned recently. Also cognitive distortions and maladaptive beliefs may hamper therapy progress. Besides that, behavioral techniques utilizing cognitive techniques to lessen the degree of dysfunctional beliefs about sex and sexuality may help the couple to overcome premature ejaculation and enhance sexual satisfaction and intimacy. [JCBPR 2013; 2(1.000: 47-52

  18. Lung X-ray Changes in Premature Neonates with Respiratory Failure

    Directory of Open Access Journals (Sweden)

    S. A. Perepelitsa

    2011-01-01

    Full Text Available Objective: to study lung X-ray changes in premature neonates born from multiple pregnancy respiratory failure. Subjects and methods. Forty-six premature neonates born from multiple pregnancy who had RF were followed up; of them 9 (39.1% and 14 (60.9% were monochorial-diamniotic and diochorial-diamniotic twins, respectively. Lung X-ray films were analyzed in 39 infants with RF. By taking into account the babies’ gestational age and the clinical picture of RF, the newborn infants were given the exogenous surfactant Curosurf. Clinical evaluation of their status and plain lung X-ray films were made. If a fatal outcome occurred, the lung was investigated morphologically. Results. There were different lung X-ray patterns: no abnormal changes; the following X-ray signs were most characteristic: a less clear lung field transparency and an increased lung pattern in the middle internal areas of both lungs; a false aspiration pneumonia pattern caused by the Curosurf remnants being present in the airways; hyaline membrane disease and congenital pneumonia were detected in 5.1% of cases. Atelectases were found with the late administration of Curosurf. Conclusion. The prophylactic administration of Curosurf causes lung X-ray changes in the premature neonates with RF. Abnormal lung changes were absent most frequently in the first 24 hours of mechanical ventilation (MV. Atelectases and intrapulmonary hemodynamic disorders were found with the later, the so-called medical Curosurf administration. The emergence of new treatments for RF, such as early transition to MV and administration of exogenous surfactants, in premature neonates alters not only the clinical, but also X-ray pattern of respiratory distress syndrome. Key words: respiratory failure, atelectases, respiratory distress syndrome, premature neonates, multiple pregnancy, lung X-ray film.

  19. Cardiovascular Insights from a Premature Aging Syndrome: A Translational Story

    OpenAIRE

    Nabel, Elizabeth G.

    2012-01-01

    Good morning. I am delighted to join you this morning. Today I'd like to tell you an interesting translational research story whereby a rare disease can be an example for how scientific advances can lead to acceleration of new therapies. This story will include some genetic sleuthing, a creative interdisciplinary team, a foundation of protein biochemistry, cutting-edge cell biology, creation of a mouse model, designer drug development, some good luck along the way, kids enrolling in a clinica...

  20. Cardiovascular insights from a premature aging syndrome: a translational story.

    Science.gov (United States)

    Nabel, Elizabeth G

    2012-01-01

    Good morning. I am delighted to join you this morning. Today I'd like to tell you an interesting translational research story whereby a rare disease can be an example for how scientific advances can lead to acceleration of new therapies. This story will include some genetic sleuthing, a creative interdisciplinary team, a foundation of protein biochemistry, cutting-edge cell biology, creation of a mouse model, designer drug development, some good luck along the way, kids enrolling in a clinical trial from around the world, and finally, unexpected consequences for a condition that affects all of us.

  1. Morbidities, concordance, and predictors of preterm premature ...

    African Journals Online (AJOL)

    2015-12-05

    Dec 5, 2015 ... Background: Preterm premature rupture of membranes (PPROM) is a challenging complication of pregnancies and an important cause of perinatal morbidity and mortality. Management of morbidities associated with PPROM is fraught with controversy. However, women should be informed of these ...

  2. New Information About Premature Births (For Consumers)

    Centers for Disease Control (CDC) Podcasts

    2006-10-06

    A new study finds that prematurity is the most frequent cause of infant death in the United States. Learn more.  Created: 10/6/2006 by CDC Division of Reproductive Health.   Date Released: 10/6/2006.

  3. RETINOPATHY OF PREMATURITY IN INFANTS WITH BIRTH ...

    African Journals Online (AJOL)

    hi-tech

    2000-10-10

    %). 0.67. Maternal hypertension. 1 (7.7%). 14 (25.5%). 0.15. Premature rupture of membranes. 5 (38.5%). 5 (9.1%). 0.33. Tables 1 and 2 respectively show the neonatal and maternal risk factors associated with the disease.

  4. APPLICATION OF PARENTERAL NUTRITION IN PREMATURE INFANTS

    Directory of Open Access Journals (Sweden)

    N. P. Molokanova

    2015-01-01

    Full Text Available Prematurity and, as a result, the expressed morphofunctional immaturity of all body organs and systems makes an essential contribution to morbidity and mortality rates. The efficiency of care for prematurely born children in many respects depends on adequacy of the enteral and parenteral nutrition program. The balanced and correctly organized nutrition is one of the most important components of care for the prematurely born children, which defines both immediate and remote prognosis. The review of literature on parenteral nutrition in prematurely born children is given. The main indications, dosages, beginning time, and strategies for the appointment of «aggressive» nutrition are specified. Main conclusion: it is necessary to use higher doses for parenteral nutrition, and take into account that an early appointment of amino acids and fatty emulsions is important. An early ‘aggressive’ nutrition strategy is well tolerated by preterm infants and provides proper rates of physical development in the postnatal period without adverse outcomes. 

  5. Morbidities, concordance, and predictors of preterm premature ...

    African Journals Online (AJOL)

    Morbidities, concordance, and predictors of preterm premature rupture of membranes among pregnant women at the University of Nigeria Teaching Hospital (UNTH), Enugu, Nigeria. ... Objective: This article aimed to review the morbidities, concordance, and predictors of PPROM over a 10‑year period. Methods: This was a ...

  6. 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…

  7. Optimal oxygen saturation in premature infants

    Directory of Open Access Journals (Sweden)

    Meayoung Chang

    2011-09-01

    Full Text Available There is a delicate balance between too little and too much supplemental oxygen exposure in premature infants. Since underuse and overuse of supplemental oxygen can harm premature infants, oxygen saturation levels must be monitored and kept at less than 95% to prevent reactive oxygen species-related diseases, such as retinopathy of prematurity and bronchopulmonary dysplasia. At the same time, desaturation below 80 to 85% must be avoided to prevent adverse consequences, such as cerebral palsy. It is still unclear what range of oxygen saturation is appropriate for premature infants; however, until the results of further studies are available, a reasonable target for pulse oxygen saturation (SpO2 is 90 to 93% with an intermittent review of the correlation between SpO2 and the partial pressure of arterial oxygen tension (PaO2. Because optimal oxygenation depends on individuals at the bedside making ongoing adjustments, each unit must define an optimal target range and set alarm limits according to their own equipment or conditions. All staff must be aware of these values and adjust the concentration of supplemental oxygen frequently.

  8. 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.

  9. Birthing and Parenting a Premature Infant in a Cultural Context.

    Science.gov (United States)

    Brooks, Jada L; Holdtich-Davis, Diane; Docherty, Sharron L; Theodorou, Christina S

    2016-02-01

    The purpose of this longitudinal qualitative descriptive study was to explore American Indian mothers' perceptions of parenting their premature infants over their first year of life in the context of their culture, including the birth and hospitalization experience. A convenience sample of 17 American Indian mothers and their premature infants were recruited from either a neonatal intensive care unit (NICU) or pediatric clinic in the southeast. Semistructured interviews were conducted at two time points. Through content analytic methods, three broad categories were revealed: descriptions of having a premature infant in the NICU, descriptions of parenting a premature infant, and the influence of Lumbee culture on parenting a premature infant. Certain aspects of American Indian culture appear to be important in having a premature infant in the NICU and in parenting a premature infant. We recommend that health care providers deliver culturally appropriate care that fully supports American Indian mothers and their premature infants. © The Author(s) 2015.

  10. Birthing and Parenting a Premature Infant in a Cultural Context

    Science.gov (United States)

    Brooks, Jada L.; Holdtich-Davis, Diane; Docherty, Sharron L.; Theodorou, Christina S.

    2015-01-01

    The purpose of this longitudinal qualitative descriptive study was to explore American Indian (AI) mothers’ perceptions of parenting their premature infants over their first year of life in the context of their culture, including the birth and hospitalization experience. A convenience sample of 17 AI mothers and their premature infants were recruited from either a neonatal intensive care unit (NICU) or pediatric clinic in the southeast. Semistructured interviews were conducted at two time points. Through content analytic methods, three broad categories were revealed: descriptions of having a premature infant in the NICU, descriptions of parenting a premature infant, and the influence of Lumbee culture on parenting a premature infant. Certain aspects of AI culture appear to be important in having a premature infant in the NICU and in parenting a premature infant. We recommend that healthcare providers deliver culturally appropriate care that fully supports AI mothers and their premature infants. PMID:25721716

  11. Unilateral submandibular suppurative sialadenitis in a premature infant

    NARCIS (Netherlands)

    de Haan, T. R.; Grooters, E.; Frijns, J. H. M.; Walther, F. J.

    2003-01-01

    Isolated submandibular suppurative sialadenitis is extremely rare in newborn infants and is associated with prematurity and prolonged gavage feeding. This report describes a premature infant who developed a life-threatening airway obstruction due to suppurative submandibular sialadenitis. The

  12. The effects of music therapy on vital signs, feeding, and sleep in premature infants.

    Science.gov (United States)

    Loewy, Joanne; Stewart, Kristen; Dassler, Ann-Marie; Telsey, Aimee; Homel, Peter

    2013-05-01

    Recorded music risks overstimulation in NICUs. The live elements of music such as rhythm, breath, and parent-preferred lullabies may affect physiologic function (eg, heart and respiratory rates, O2 saturation levels, and activity levels) and developmental function (eg, sleep, feeding behavior, and weight gain) in premature infants. A randomized clinical multisite trial of 272 premature infants aged ≥32 weeks with respiratory distress syndrome, clinical sepsis, and/or SGA (small for gestational age) served as their own controls in 11 NICUs. Infants received 3 interventions per week within a 2-week period, when data of physiologic and developmental domains were collected before, during, and after the interventions or no interventions and daily during a 2-week period. Three live music interventions showed changes in heart rate interactive with time. Lower heart rates occurred during the lullaby (P Music decreased parental stress perception (P music therapist can influence cardiac and respiratory function. Entrained with a premature infant's observed vital signs, sound and lullaby may improve feeding behaviors and sucking patterns and may increase prolonged periods of quiet-alert states. Parent-preferred lullabies, sung live, can enhance bonding, thus decreasing the stress parents associate with premature infant care.

  13. 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.

  14. Neonatal progeroid syndrome (Wiedemann-Rautenstrauch ...

    African Journals Online (AJOL)

    Rabah M. Shawky

    2012-04-20

    Apr 20, 2012 ... Wiedemann-Rautenstrauch syndrome;. Premature aging;. Milk teeth;. Nail dystrophy;. Cafe´ au lait skin patches. Abstract A female, 26 months old with features supporting the diagnosis of neonatal progeroid syndrome was presented. She had prenatal and postnatal growth failure, generalized lipoatrophy.

  15. Factors associated with mortality among premature babies admitted ...

    African Journals Online (AJOL)

    Background: Prematurity, birth asphyxia and infections are the leading causes of neonatal mortality globally. This study was conducted to determine the mortality and associated factors among premature neonates at Bugando Medical Centre, Mwanza-Tanzania. Methods: One hundred and three premature neonates ...

  16. 14 CFR 1214.806 - Premature termination of Spacelab flights.

    Science.gov (United States)

    2010-01-01

    ... 14 Aeronautics and Space 5 2010-01-01 2010-01-01 false Premature termination of Spacelab flights... FLIGHT Reimbursement for Spacelab Services § 1214.806 Premature termination of Spacelab flights. If a... are, in NASA's judgment, adversely affected by such premature termination. The basis for proration...

  17. Mothers' perceptions of their premature infant's communication: A ...

    African Journals Online (AJOL)

    Background: Survival rates of premature infants have increased due to advances in medicine. Premature infants however, remain at risk for developmental delays including communication difficulties. The bonding and attachment experiences of premature infants and their parents are often challenged, further placing these ...

  18. Determinants of premature births in two central hospital Harare ...

    African Journals Online (AJOL)

    Determinants of premature births in two central hospital Harare, Zimbabwe, 2011. ... Identifying local risk factors for prematurity could help incoming up with local intervention and prevention strategies. ... [ AOR 0.926 95% CI 0.88 0.97] and MUAC ≥23cm [AOR 0.95 95% CI 0.91 0.95] reduced the risk of premature delivery.

  19. Alterations in Functional Connectivity for Language in Prematurely Born Adolescents

    Science.gov (United States)

    Schafer, Robin J.; Lacadie, Cheryl; Vohr, Betty; Kesler, Shelli R.; Katz, Karol H.; Schneider, Karen C.; Pugh, Kenneth R.; Makuch, Robert W.; Reiss, Allan L.; Constable, R. Todd; Ment, Laura R.

    2009-01-01

    Recent data suggest recovery of language systems but persistent structural abnormalities in the prematurely born. We tested the hypothesis that subjects who were born prematurely develop alternative networks for processing language. Subjects who were born prematurely (n = 22; 600-1250 g birth weight), without neonatal brain injury on neonatal…

  20. case report: Werner’s Syndrome

    Directory of Open Access Journals (Sweden)

    Faruk Kılınç

    2013-01-01

    Full Text Available Werner’s syndrome (WS is an extremely rare and autosomalrecessive premature aging syndrome characterizedby scleroderma-like skin changes, alopecia, legulcers, short stature, cataract, early atherosclerosis, osteoporosis,hypogonadism and increased susceptibilityto malignancies and diabetes mellitus. It can be typicallyrecognized at the third or fourth decades of life. Patientswith WS usually die at the age of 40-50 years due to malignanttumors or atherosclerotic complications. Therefore,early recognition of WS is of great importance forgenetic counseling and for the identification of malignanttumors, atherosclerosis, diabetes, or osteoporosis at anearly stage, since they are the most important factorscausing morbidity and mortality. In this article, growth retardation,premature aging, early cataract, the findings ofhypergonadotropic hypogonadism syndrome was hospitalizedand diagnosed with wermer 19-year-old male patientis presented.Key words: Werner’s syndrome, premature aging, hypogonadism

  1. DIGESTIVE DISORDERS IN PREMATURELY BORN CHILDREN

    Directory of Open Access Journals (Sweden)

    I. A. Belyaeva

    2012-01-01

    Full Text Available The article contains data on functional digestive disorders in newborns, mainly on the problem of lactase (disaccharidase insufficiency. The information on the prevalence of this condition, modern classification of hypolactasia, diagnostic techniques and dietary as well as medicinal correction is given. Treatment of lactase insufficiency has an increased significance in prematurely born children due to their excess demands in energy and plastic substances. The appropriateness of lactase for the treatment of this disorder is proved.

  2. Retinopathy of prematurity: perinatal risk factors

    Directory of Open Access Journals (Sweden)

    Fabiola Caroline da Silva

    2016-11-01

    Full Text Available Abstract: Objective: To investigate the main risk factors for the development of retinopathy of prematurity (ROP in premature infants in the neonatal intensive care unit of Santa Casa de Misericordia de Ponta Grossa. Methods: Retrospective study, case-control, through the review of medical records from January / 2010 to December / 2014. Infants weighing ?1,500 grams at birth, ?37 weeks gestational age were included in this study and infants with congenital malformation, not submitted to funduscopy and with incomplete records were excluded. The risk factors were compared with univariate and multivariate analyzes. For the quantitative variables, the t test was used for the qualitative Fisher's exact test and, after univariate analysis we used logistic regression. Results: 172 neonates were selected and divided into two groups: controls 154 (89.5% and 18 cases (10.5%. The factors studied were: gestational age, birth weight, Apgar at 1 and 5 minutes, use of surfactant, oxygen therapy time, FiO2 used, jaundice, need for phototherapy, development of bronchopulmonary dysplasia, necrotizing enterocolits, intracranial hemorrhage and surgeries. Before the univariate analysis gestational age, birth weight, APGAR at 1 and 5 minutes after birth, oxygen therapy time, maximum fraction of inspired oxygen (FiO2, need for surfactant, start time of jaundice and level of indirect bilirubin statistically significant (p Conclusion: The frequency of ROP was lower than that found in the literature, stage III predominated, 38.9% of premature infants with severe ROP benefited from photocoagulation, confirming that identification, screening and early treatment of premature are essential in preventing blindness.

  3. Human milk for the premature infant.

    Science.gov (United States)

    Cunningham, M D; Desai, N S; Charlet, S S

    1979-05-01

    Closer study of premature infants has led to the establishment of human milk as the recommended nutritional standard for them. Infants fed with human milk are found to gain protection against necrotizing enterocolitis, and have fewer upper respiratory tract infections and systemic infections. Antibacterial components of human milk include leukocytes (macrophages, granulocytes, and T and B cell lymphocytes), the B cell secreted immunoglobulins, and complement factors. Lactoperoxidase and lactoferrin in breast milk are particularly active against group B beta hemolytic streptococcus and staphylococcus, respectively. Fresh human milk helps in the colonization of the infant's gut by Lactobacillus bifidus, a bacteria that suppresses other possibly pathogenic organisms. Nutritional values of human milk offer certain advantages and disadvantages over cow's milk. The quality of human milk protein is superior to that of cow's milk, and human milk's higher levels of cystine are especially required in the premature infant, where the liver is deficient in the enzyme required to convert methionine to cystine. Human milk is low in certain essential electrolytes and trace elements, such as sodium. It can also harbor drugs, pollutants, and harmful viruses that can be dangerous to the infant. Freezing of human milk for banking can destroy many of the immunological advantages of its use. Given that the advantages seem to outweigh the disadvantages, the authors favor the use of human milk for premature infants.

  4. Lidocaine/prilocaine spray for premature ejaculation.

    Science.gov (United States)

    2017-04-01

    Although premature ejaculation is the most common ejaculation problem, it is poorly understood and currently has no standard definition.(1) Typically, it involves reduced time to ejaculation, inability to control or delay ejaculation and associated distress.(1-5) Treatments that have been assessed include psychosexual counselling, antidepressants (e.g. selective serotonin reuptake inhibitors), phosphodiesterase type-5 inhibitors, tramadol and topical anaesthetic agents (e.g. lidocaine/prilocaine cream). A new formulation (cutaneous spray) of lidocaine/prilocaine (Fortacin-Plethora Solutions Ltd.) was launched in the UK in November 2016 for the treatment of primary premature ejaculation.(6,7) Here, we consider the evidence for lidocaine/prilocaine spray and whether it has a role in the treatment of premature ejaculation. 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/.

  5. [Premature infants bronchopulmonary dysplasia: past and present].

    Science.gov (United States)

    Hadchouel, A; Delacourt, C

    2013-08-01

    Bronchopulmonary dysplasia (BPD) is the most common chronic respiratory disease in premature infants. BPD was first described by Northway in 1967 as a chronic respiratory condition that developed in premature infants exposed to mechanical ventilation and high oxygen supplementation. DBP is currently defined by the need for supplemental oxygen at 28 days of life (mild BPD) and at the 36 weeks of post-menstrual age (moderate and severe BPD). With the advances of neonatal care, epidemiological characteristics and mechanisms of the disease as well as pathological characteristics and clinical course have profoundly changed within the last two decades, but still no effective curative treatment exists and BPD continue to occur among 10 to 20% of premature infants. Furthermore, BPD is a significant source of respiratory and neuro-cognitive morbidities. Thus, its treatment makes a considerable demand on health services. Regarding its pathophysiological mechanisms, it is now established that BPD is a complex disease combining genetic susceptibility and environmental injuries. The identification of genetic variants involved in BPD is a potential source of innovative development in terms of diagnosis and treatment. Indeed, no curative or effective prophylactic therapeutic exists and BPD treatment is currently symptomatic. Copyright © 2013 Elsevier Masson SAS. All rights reserved.

  6. Familial aggregation of phenotypic expression of premature hair hypopigmentation in the craniofacial region

    Directory of Open Access Journals (Sweden)

    Corey Black

    2015-04-01

    Full Text Available There are many patients who experience premature hypopigmentation of hair, but do not understand the underlying causes and potential dangers associated with them. The causes range from genetic predisposition to environmental influences such as tobacco use. Premature hypopigmentation of the hair shaft can also be associated with many syndromes; some which cause dental anomalies. Today, treatment options are limited for patients, although various studies are being done on mice to target the underlying mechanism of action. Understanding the differences between all of the possible causes of this particular phenotype can help clinicians better identify the symptoms, educate patients, and possibly modify treatment to suit the needs of each patient on an individual basis.

  7. Uncommon Leber "plus" disease associated with mitochondrial mutation m.11778G>A in a premature child.

    Science.gov (United States)

    Paquay, Stéphanie; Benoit, Valérie; Wetzburger, Catherine; Cordonnier, Monique; Meire, Françoise; Charon, Anne; Roland, Dominique; Van Coster, Rudy; Nassogne, Marie-Cécile; Maystadt, Isabelle

    2014-08-01

    Leber hereditary optic neuropathy is a well-known mitochondrial disorder that leads to bilateral subacute visual failure. Although visual impairment is often the sole clinical feature, additional and severe neurologic abnormalities also have been documented for this disease. We report on a 13-year-old boy who has presented with severe visual failure since early childhood in a context of prematurity. In the first years of his life, clinical features included delayed psychomotor development and ataxia. The clinical presentation, which was initially attributed to prematurity, worsened thereafter, and the child developed acute neurologic degradation with the typical radiological findings of Leigh syndrome. The mitochondrial DNA point mutation 11778G>A was identified in the ND4 gene. The probable influence of environmental background on clinical expression of Leber optic neuropathy, particularly those of prematurity and oxygen therapy, is discussed in our manuscript. © The Author(s) 2013.

  8. Hysterical paralysis and premature burial: a medieval Persian case, fear and fascination in the West, and modern practice.

    Science.gov (United States)

    Agutter, Paul S; Shoja, Mohammadali M; Tubbs, R Shane; Rashidi, Mohammad Reza; Khalili, Majid; Hosseini, Seyed Fazel; Ghabili, Kamyar; Cohen-Gadol, Aaron A; Loukas, Marios

    2013-04-01

    Premature burial (taphophobia) is an ancient fear, but it became especially common in 18th and 19th century Europe and may have a modern-day counterpart. Examination of a well-documented case from medieval Persia reveals the importance of funeral practices in the risk of actual premature burial and sheds light on the question of why taphophobia became so prevalent in Europe during the early industrial revolution period. The medieval Persian case was attributed to hysterical paralysis (conversion). We discuss the relationship between hysterical paralysis and premature burial more generally and show that although understanding of conversion syndrome remains incomplete, modern knowledge and practices have limited the risk of any similar tragedy today. Copyright © 2012 Elsevier Ltd and Faculty of Forensic and Legal Medicine. All rights reserved.

  9. Breast milk-acquired cytomegalovirus infection and disease in VLBW and premature infants.

    Science.gov (United States)

    Lanzieri, Tatiana M; Dollard, Sheila C; Josephson, Cassandra D; Schmid, D Scott; Bialek, Stephanie R

    2013-06-01

    Very low birth weight (VLBW) and premature infants are at risk for developing postnatal cytomegalovirus (CMV) disease, including CMV-related sepsis-like syndrome (CMV-SLS) for which estimates [corrected] in the United States are lacking. We performed a systematic review and meta-analysis to estimate the pooled proportions (and 95% confidence intervals) of VLBW and premature infants born to CMV-seropositive women with breast milk-acquired CMV infection and CMV-SLS. We combined these proportions with population-based rates of CMV seropositivity, breast milk feeding, VLBW, and prematurity to estimate annual rates of breast milk-acquired CMV infection and CMV-SLS in the United States. In our meta-analysis, among 299 infants fed untreated breast milk, we estimated 19% (11%-32%) acquired CMV infection and 4% (2%-7%) developed CMV-SLS. Assuming these proportions, we estimated a rate of breast milk-acquired CMV infection among VLBW and premature infants in the United States of 6.5% (3.7%-10.9%) and 1.4% (0.7%-2.4%) of CMV-SLS, corresponding to 600 infants with CMV-SLS in 2008. Among 212 infants fed frozen breast milk, our meta-analysis proportions were 13% (7%-24%) for infection and 5% (2%-12%) for CMV-SLS, yielding slightly lower rates of breast milk-acquired CMV infection (4.4%; 2.4%-8.2%) but similar rates of CMV-SLS (1.7%; 0.7%-4.1%). Breast milk-acquired CMV infection presenting with CMV-SLS is relatively rare. Prospective studies to better define the burden of disease are needed to refine guidelines for feeding breast milk from CMV-seropositive mothers to VLBW and premature infants.

  10. Breast Milk-Acquired Cytomegalovirus Infection and Disease in Very Low Birth Weight and Premature Infants

    Science.gov (United States)

    Lanzieri, Tatiana M.; Dollard, Sheila C.; Josephson, Cassandra D.; Schmid, D. Scott; Bialek, Stephanie R.

    2016-01-01

    Introduction Very low birth weight (VLBW) and premature infants are at risk of developing postnatal cytomegalovirus (CMV) disease, including CMV-related sepsis-like syndrome (CMV-SLS). Estimates of breast milk-acquired CMV infection and disease among these infants in the United States are lacking. Methods We performed a systematic review and meta-analysis to estimate the pooled proportions (and 95% confidence intervals) of VLBW and premature infants born to CMV-seropositive women with breast milk-acquired CMV infection and CMV-SLS. We combined these proportions with population-based rates of CMV seropositivity, breast milk feeding, VLBW and prematurity to estimate annual rates of breast milk-acquired CMV infection and CMV-SLS in the United States. Results In our meta-analysis, among 299 infants fed untreated breast milk, we estimated 19% (11%–32%) acquired CMV infection and 4% (2%–7%) developed CMV-SLS. Assuming these proportions, we estimated a rate of breast milk-acquired CMV infection among VLBW and premature infants in the United States of 6.5% (3.7%–10.9%) and 1.4% (0.7%–2.4%) of CMV-SLS, corresponding to 600 infants with CMV-SLS in 2008. Among 212 infants fed frozen breast milk, our meta-analysis proportions were 13% (7%–24%) for infection and 5% (2%–12%) for CMV-SLS, yielding slightly lower rates of breast milk-acquired CMV infection (4.4%; 2.4%–6.8%) but similar rates of CMV-SLS (1.7%; 0.7%–4.1%). Conclusions Breast milk-acquired CMV infection presenting with CMV-SLS is relatively rare. Prospective studies to better define the burden of disease are needed to refine guidelines for feeding breast milk from CMV-seropositive mothers to VLBW and premature infants. PMID:23713111

  11. Morbidity and mortality of premature neonates after introduction of national in vitro fertilisation programme: Our experience

    Directory of Open Access Journals (Sweden)

    Spasojević Slobodan

    2010-01-01

    Full Text Available Introduction. Infertility occurs in approximately10% of couples and in vitro fertilisation (IVF is its most efficient treatment method. The National IVF Programme started in October 1st, 2006. Objective. Examination of morbidity and mortality of premature neonates conceived by IVF after initiation of the National IVF Programme. Methods. Retrospective analysis of history charts of IVF premature neonates treated at the Neonatal Intensive Care Unit (NICU of the Institute of Child and Youth Healthcare of Vojvodina, Novi Sad, Serbia, from March 1st, 2007 to March 1st, 2008. Results. Of 189 treated premature neonates, 25 (13.23% were IVF conceived, with mean gestational age (GA of 29.46±3.28 gestational weeks (GW, one-minute Apgar score 5.44±2.45, five-minute Apgar score 7.16±1.92 and birth weight (BW 1299±484.35 g; from singleton 12 (48%, twin 10 (40%, and trigeminal 3 (12% gestations. The largest number of neonates were of GA between 29 and 31.9 GW (12; 48% and BW between 1500 and 2499 g (9; 36%. All of them were treated due to respiratory distress syndrome, complicated in 2 (8% with air leak syndromes and in 4 (16% with pulmonary haemorrhage. Congenital anomalies were detected in 2 (8% and intracranial haemorrhage developed subsequently in 21 (84% neonates. Lethal outcome occurred in 7 (28% neonates, in all cases in lower gestation groups (<29 GW. Variable analysis showed significantly higher incidence of chorioamnionitis (p=0.0004 and lower GA (p~0.00, BW (p~0.00, one-minute Apgar score (p=0.0007 as well as significant difference in prophylactic surfactant application (p~0.00 and mean arterial pressure on admission (p=0.002. Conclusion. Morbidity and mortality of IVF premature neonates does not differ significantly from that of other premature neonates treated at NICU. Prematurity and low BW are important factors in pathology of these neonates and final outcome is influenced by perinatal asphyxia, risk of systemic infection, prophylactic

  12. [Antiphospholipid syndrome and pregnancy].

    Science.gov (United States)

    Schreiber, Karen; Lykke, Jacob Alexander; Langhoff-Roos, Jens; Nielsen, Henriette Svarre; Jacobsen, Søren

    2016-01-18

    Antiphospholipid syndrome (APS) is the association of antiphospholipid antibodies with thromboses and/or obstetric morbidity. Obstetric morbidity includes recurrent first trimester loss, stillbirth, intrauterine death, preeclam-psia, premature birth and fetal growth restriction. Although current treatment regimens including aspirin and low-molecular weight heparin have improved pregnancy outcomes, 30% of affected women have pregnancy complica-tions. Women with APS are therefore high-risk pregnancies who should be monitored in specialist centres according to international standards.

  13. The diagnostic value of mean platelet volume in males with premature atherosclerotic coronary artery disease having stable angina pectoris

    Directory of Open Access Journals (Sweden)

    Özgül Malçok Gürel

    2014-09-01

    Full Text Available Objective: In this study, we aimed to investigate whether platelet count and mean platelet volume (MPV could be new biomarkers addition to classical risk factors in premature coronary artery disease (CAD. Methods: Totally 124 male patients (mean age: 45.8±13.0 year; range of age: 27-78 year, with stable angina pectoris, were included. Clinical and laboratory findings (whole blood cell count, glucose, creatinine, lipid profile were recorded. Automatic blood counter was used for hematological parameters. Conventional coronary angiography was performed. Patients having acute coronary syndrome within the last six months, with severe valvular, structural or congenital heart disease, thyroid and hepatic dysfunction or signs of any infection were excluded. Results: The study population were separated into three groups by coronary angiography: 51 with stable CAD aged ≤40 years (premature CAD, 38 with stable CAD older than 40 (mature CAD and 35 with the normal coronary arteries (NCA. No significant difference was found in MPV values between premature CAD and mature CAD and also between premature CAD and NCA (p>0.05. A significant negative correlation was found between MPV and platelet count in premature CAD (r=-0.419, p=0.002. Both in premature CAD and mature CAD groups, higher MPV values was found in critical CAD subgroup than noncritical CAD subgroup, but the difference was not statistically significant (p>0.05. Conclusion: There was no significant difference in MPV between premature and mature male CAD patients compared to NCA group. A positive but non-significant correlation was found between the MPV values and the severity of CAD. J Clin Exp Invest 2014; 5 (3: 381-385

  14. Retinopathy of prematurity outcome in infants with Prethreshold Retinopathy of Prematurity and oxygen saturation > 94% in room air : The High Oxygen Percentage in Retinopathy of Prematurity study

    NARCIS (Netherlands)

    McGregor, ML; Bremer, DL; Cole, C; McClead, RE; Phelps, DL; Fellows, RR; Oden, N

    Objectives. To determine the rate of progression from prethreshold to threshold retinopathy of prematurity (ROP) in infants excluded from Supplemental Therapeutic Oxygen for Prethreshold Retinopathy of Prematurity (STOP-ROP) because their median arterial oxygen saturation by pulse oximetry (Spo(2))

  15. Lemierre's Syndrome Complicating Pregnancy

    Directory of Open Access Journals (Sweden)

    M. Thompson

    2007-01-01

    Full Text Available Lemierre's syndrome is an anaerobic suppurative thrombophlebitis involving the internal jugular vein secondary to oropharyngeal infection. There is only one previous case report in pregnancy which was complicated by premature delivery of an infant that suffered significant neurological damage. We present an atypical case diagnosed in the second trimester with a live birth at term. By reporting this case, we hope to increase the awareness of obstetricians to the possibility of Lemierre's syndrome when patients present with signs of unabating oropharyngeal infection and pulmonary symptoms.

  16. Progeria Research Foundation, Inc.

    Science.gov (United States)

    ... Find The Other 150 Kids Video Gallery In Memory Of Life According To Sam Awards & Reviews Buy & ... 2018 in Boston MA: Night of Wonder 2018: Music to your ears! Learn More College Diabetes Network ...

  17. Progeria 101/FAQ

    Science.gov (United States)

    ... growth failure, loss of body fat and hair, aged-looking skin and stiffness of joints. As children get older, they suffer from osteoporosis, generalized atherosclerosis, cardiovascular (heart) disease and stroke. The ...

  18. Learning about Progeria

    Science.gov (United States)

    ... and Projects Grant Information NIH Common Fund NIH RePORTER Research at NHGRI An Overview Branches Clinical Research ... use of high-throughput screening technology to identify chemical compounds that might reverse nuclear membrane abnormalities of ...

  19. The pathophysiology of lifelong premature ejaculation

    Science.gov (United States)

    2016-01-01

    For many decades it has been thought that lifelong premature ejaculation (PE) is only characterized by persistent early ejaculations. Despite enormous progress of in vivo animal research, and neurobiological, genetic and pharmacological research in men with lifelong PE, our current understanding of the mechanisms behind early ejaculations is far from complete. The new classification of PE into four PE subtypes has shown that the symptomatology of lifelong PE strongly differs from acquired PE, subjective PE and variable PE. The phenotype of lifelong PE and therefore also the pathophysiology of lifelong PE is much more complex. A substantial number of men with lifelong PE not only have PE, but also premature erection and premature penile detumescence as part of an acute hypertonic or hypererotic state when engaged in an erotic situation or when making love. As both erectio praecox, ejaculatio praecox, detumescentia praecox, and the hypererotic state are part of the phenotype lifelong PE, it is argued that lifelong PE is not only a disturbance of the timing of ejaculation but also a disturbance of the timing of erection, detumescence and arousal. Since 1998, the pathophysiology of lifelong PE was thought to be mainly mediated by the central serotonergic system in line with genetic polymorphisms of specific serotonergic genes. However, by accepting that lifelong PE is characterized by the reversible hypertonic state the hypothesis of mainly serotonergic dysfunction is no longer tenable. Instead, it has been postulated that the pathophysiology of lifelong PE is mediated by a very complex interplay of central and peripheral serotonergic, dopaminergic, oxytocinergic, endocrinological, genetic and probably also epigenetic factors. Progress in research of lifelong PE can only be accomplished when a stopwatch is used to measure the IELT and the cut-off point of 1 minute for the definition of lifelong PE is maintained. Current use of validated questionnaires, neglect of

  20. Malt-induced premature yeast flocculation: current perspectives.

    Science.gov (United States)

    Panteloglou, Apostolos G; Smart, Katherine A; Cook, David J

    2012-06-01

    Premature yeast flocculation (PYF) is a sporadic problem for the malting and brewing industries which can have significant financial and logistical implications. The condition is characterised by abnormally heavy (and sometimes early) flocculation of yeast during brewery fermentations. The resulting low suspended yeast cell counts towards the end of the fermentation can result in flavour defects and incomplete attenuation (fermentation of sugars to alcohol). Despite several decades of research into the phenomenon, its precise nature and mechanisms have not been fully elucidated. In part this is because the term PYF has become a 'catch-all' syndrome which can have multiple origins. Furthermore, there are complex interactions in the malting and brewing processes which together mean that the PYF status of a malt sample is hard to predict at a generic level. Whether or not PYF is observed depends not only on barley quality, but on process factors in the maltings and to a substantial extent on the brewing yeast strain concerned. This article highlights the significance of PYF, and reviews current knowledge relating to the origins of this complex phenomenon.

  1. [Ejaculatory disorders except premature ejaculation, orgasmic disorders].

    Science.gov (United States)

    Rigot, J-M; Marcelli, F; Giuliano, F

    2013-07-01

    Disorders of ejaculation and orgasm apart from premature ejaculation are pretty uncommon. Medical literature was reviewed and combined with expert opinion of the authors. The semiology of these disorders is essential: aspermia, hypospermia, retrograde ejaculation, delayed or absent ejaculation with or without orgasm. Whether this is a lifelong or acquired condition, it is essential to assess the side-effects of medications i.e. psychotropic drugs, including antidepressant, neuroleptics, tramadol, alphablockers: tamsulosin and silodosin must always be surveyed. The management is often difficult, especially with a parenthood perspective. The management of lifelong disorders must rely on psychosexual therapies. Copyright © 2013 Elsevier Masson SAS. All rights reserved.

  2. Gardnerella vaginalis bacteremia in a premature neonate.

    Science.gov (United States)

    Amaya, Rene A; Al-Dossary, Fahad; Demmler, Gail J

    2002-01-01

    Gardnerella vaginalis is a normal component of the human vaginal flora and commonly associated with bacterial vaginosis. Invasive infection in obstetrical patients due to G. vaginalis has also been reported. In the pediatric age range, infection due to G. vaginalis is extremely rare and limited to neonates. We describe a 23-week premature infant with G. vaginalis bacteremia and review the characteristics of neonatal G. vaginalis infection reported in the literature. Antibiotic susceptibility testing of G. vaginalis isolates has shown that penicillin, ampicillin, erthromycin, clindamycin, and vancomycin are effective in vitro.

  3. First reported patient with human ERCC1 deficiency has cerebro-oculo-facio-skeletal syndrome with a mild defect in nucleotide excision repair and severe developmental failure.

    Science.gov (United States)

    Jaspers, Nicolaas G J; Raams, Anja; Silengo, Margherita Cirillo; Wijgers, Nils; Niedernhofer, Laura J; Robinson, Andria Rasile; Giglia-Mari, Giuseppina; Hoogstraten, Deborah; Kleijer, Wim J; Hoeijmakers, Jan H J; Vermeulen, Wim

    2007-03-01

    Nucleotide excision repair (NER) is a genome caretaker mechanism responsible for removing helix-distorting DNA lesions, most notably ultraviolet photodimers. Inherited defects in NER result in profound photosensitivity and the cancer-prone syndrome xeroderma pigmentosum (XP) or two progeroid syndromes: Cockayne and trichothiodystrophy syndromes. The heterodimer ERCC1-XPF is one of two endonucleases required for NER. Mutations in XPF are associated with mild XP and rarely with progeria. Mutations in ERCC1 have not been reported. Here, we describe the first case of human inherited ERCC1 deficiency. Patient cells showed moderate hypersensitivity to ultraviolet rays and mitomycin C, yet the clinical features were very severe and, unexpectedly, were compatible with a diagnosis of cerebro-oculo-facio-skeletal syndrome. This discovery represents a novel complementation group of patients with defective NER. Further, the clinical severity, coupled with a relatively mild repair defect, suggests novel functions for ERCC1.

  4. Path analysis of risk factors leading to premature birth.

    Science.gov (United States)

    Fields, S J; Livshits, G; Sirotta, L; Merlob, P

    1996-01-01

    The present study tested whether various sociodemographic, anthropometric, behavioral, and medical/physiological factors act in a direct or indirect manner on the risk of prematurity using path analysis on a sample of Israeli births. The path model shows that medical complications, primarily toxemia, chorioammionitis, and a previous low birth weight delivery directly and significantly act on the risk of prematurity as do low maternal pregnancy weight gain and ethnicity. Other medical complications, including chronic hypertension, preclampsia, and placental abruption, although significantly correlated with prematurity, act indirectly on prematurity through toxemia. The model further shows that the commonly accepted sociodemographic, anthropometric, and behavioral risk factors act by modifying the development of medical complications that lead to prematurity as opposed to having a direct effect on premature delivery. © 1996 Wiley-Liss, Inc. Copyright © 1996 Wiley-Liss, Inc.

  5. [Analysis on the result of retinopathy of prematurity screening in 1225 premature infants].

    Science.gov (United States)

    Jin, Ji; Feng, Jia; Gu, Mei-hong; Shi, Cai-ping; Zheng, Xiao-yu; Zhu, Hui-hui; Xie, Hua-ying

    2010-11-01

    To investigate the factors involved in the development of retinopathy of prematurity (ROP), and to provide the preliminary data for the evaluation of current criteria for ROP screening. Premature infants with birth body weight (BBW) ≤ 2000 g or gestational age (GA) ≤ 34 weeks in the two hospitals in Zhejiang between March 2005 and November 2008 were recruited and examined by indirect ophthalmoscopy. The records were analyzed. One thousand two hundred and twenty-five premature infants were included. Of them, 713 were male and 512 female. There were 179 twins and 21 triplets in the premature infants. The incidence of ROP was 10.8% (132 in 1225 patients). There were 12 cases (0.98%) to the point of pre threshold ROP. 4 cases (0.3%) developed threshold ROP. Only one case developed pre threshold ROP of low risk among 65 cases without history of oxygen treatment (1.5%). The percentage has significant difference compared to that of cases with history of oxygen (χ(2) = 5.115, P BBW(F = 26.39, P 0.05) or twins and triplets (χ(2) = 3.449, P > 0.05). The incidence of ROP among premature infants with BBW ≤ 1000 g was more than three times of that with BBW > 1000 g, and the incidence of ROP among premature infants with GA ≤ 28 weeks was about 2.5 times of that with GA > 28 weeks. Logistic regression analysis indicated that less BBW or shorter GA or undulation of blood oxygen concentration was a significant risk factor involved in the development of ROP (r = 0.57, P BBW, shorter GA and undulation of blood oxygen concentration are the important risk factors for the development of ROP. Premature infants with BBW ≤ 1000 g or GA ≤ 28 weeks, who had oxygen history, should be given very special attention in the ROP screening. The current criteria for ROP screening should be narrowed. In general, the ROP screening has lowered the incidence of blindness among children by investigating and treating ROP timely.

  6. Congenital Infantile Fibrosarcoma in the Premature Infant.

    Science.gov (United States)

    Edwards, Taryn M; Duran, Melissa S; Meeker, Tamara M

    2017-12-01

    Congenital infantile fibrosarcoma (CIF) is rare and represents less than 1% of all childhood cancers. It is a tumor that originates in the connective fibrous tissue found at the ends of long bones and then spreads to other surrounding soft tissues. These lesions are typically large, grow rapidly, and can often be mistaken for teratomas. Diagnosis is confirmed by pathology, where cellular proliferation of fibroblasts occurs. Imaging is an important part of the diagnosis, which includes the use of magnetic resonance imaging and/or computed tomography scan. Although surgical resection is the primary treatment, chemotherapeutic agents may be used as adjuvant therapy. To describe modalities for accurate diagnosis and treatment of CIF. PubMed was searched using terms "congenital infantile fibrosarcoma" and "infantile fibrosarcoma." Eleven relevant, English language articles were identified and utilized in the preparation of this case presentation. Complications addressed in this case presentation are prenatal diagnostic challenges, pharmacologic interventions in the setting of prematurity, immunosuppression, and acute liver and renal failure. Pharmacologic treatments will include chemotherapy agents, antimicrobial agents, as well as granulocyte colony-stimulating factor for immunosuppression. Nursing challenges included positioning and integumentary disturbances. Utilization of diagnostic imaging and pathology to accurately identify and diagnose CIF is essential. Safety and efficacy of chemotherapeutic agents in premature infants with CIF need to be established.

  7. Neuro-ophthalmic manifestations of prematurity

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    Preeti Patil Chhablani

    2014-01-01

    Full Text Available Increasing rates of preterm births coupled with better survival of these infants have resulted in higher prevalence of systemic and ocular complications associated with prematurity. In addition to retinopathy of prematurity, infants who are born preterm may suffer from severe visual impairment as a result of hypoxic ischemic encephalopathy, hypoglycemia, and other metabolic imbalances. The effect of these processes on the anterior visual pathway may result in optic atrophy, optic nerve hypoplasia or optic disc cupping and affection of the posterior visual pathway leads to cortical visual impairment (CVI. Other ocular associations include strabismus, nystagmus, and ocular motor abnormalities such as tonic down gaze and defective saccades and pursuits. Cortical and subcortical involvement also manifests as defects in functional vision and these have not yet been completely understood. Children with CVI may have visual field defects, photophobia, defective visual processing, and deficient color vision. Since most of these children also suffer from additional systemic disabilities, evaluation, and management remains a challenge. However, early diagnosis and initiation of rehabilitation therapy can prove to be of significant benefit in these children.

  8. Premature coronary artery disease in Indians

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    Meenakshi Sharma

    2005-10-01

    Full Text Available Meenakshi Sharma, Nirmal Kumar GangulyIndian Council of Medical Research, Ansari Nagar, New Delhi, IndiaAbstract: Of particular concern to India is not only the high burden of cardiovascular diseases (CVDs, but also the effects of these diseases on the productive workforce aged 35–65 years. Heart diseases are rising in Asian Indians 5–10 years earlier than in other populations around the world. The mean age for first presentation of acute myocardial infarction in Indians is 53 years. Coronary artery disease (CAD that manifests at a younger age can have devastating consequences for an individual, the family, and society. Prevention of these deaths in young people is a nation’s moral responsibility. A strategy involving prevention of CVDs long before their onset will be more cost-effective than providing interventions at a stage when the disease is well established. We review the rising trends in CAD with particular emphasis on prevalence of premature CAD and the associated risk factors in young Indian CAD patients. Action strategies to reduce the risk are suggested.Keywords: premature CAD, prevalence, risk factors

  9. 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.

  10. The significance of genetics in pathophysiologic models of premature birth.

    Science.gov (United States)

    Uberos, Jose

    2017-05-31

    Prematurity is a major health problem in all countries, especially in certain ethic groups and increasing recurrence imply the influence of genetic factors. Published genetic polymorphisms are identified in relation to the 4 pathophysiological models of prematurity described: Chorioamniotic-decidual inflammation, premature contraction pathway, decidual haemorrhage and susceptibility to environmental toxins. 240 articles are identified, 52 articles are excluded because they are not original, not written in English or duplicated. From them 125 articles were included in qualitative analysis This review aims to update recent knowledge about genes associated with premature birth.

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

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    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. 

  12. Hirschsprung disease in the premature newborn: a population based study and 40-year single center experience.

    Science.gov (United States)

    Downey, Earl C; Hughes, Elizabeth; Putnam, Angelica R; Baskin, Henry J; Rollins, Michael D

    2015-01-01

    Understanding of Hirschsprung disease (HD) in premature newborns (PHD) is anecdotal. We have sought in this study to identify the demographic and clinical features of PHD. All patients with HD 1970-2011 treated at our tertiary care children's hospital were identified. Patients with biopsy confirmed HD and EGA <37weeks were selected for further review. Prenatal and birth data, demographics, clinical signs, radiologic and pathologic data, and operative interventions were examined. The occurrence of PHD was observed using data from the Utah Department of Health database 1997-2011. 404 patients with HD from 1970 to 2011 were treated. Twenty-seven (6.7%) had PHD. Mean birth weight in PHD was 2196grams and mean gestational age 34 (range 29-36)weeks. Seven patients had Down syndrome. Nonchromosomal anomalies occurred in 25%. Median time from birth to biopsy diagnosis was 42days (range 2-316days). The most common presenting signs were abdominal distension and bilious emesis. The HD incidence in Utah for all births was 1/4322 (0.023%) and for premature infants 1/3885 (0.027%). PHD are similar to term infants with HD. Diagnosis of HD is often delayed in premature newborns, and associated anomalies are more common. Copyright © 2015 Elsevier Inc. All rights reserved.

  13. Placental Inflammatory Changes and Bacterial Infection in Premature Neonates with Respiratory Failure

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    S. A. Perepelitsa

    2012-01-01

    Full Text Available Objective: to reveal a relationship of placental inflammatory changes to bacterial infection in premature neonates with respiratory failure. Material and methods. Bronchoalveolar aspirate was bacteriologically studied in 157 premature neonates with respiratory distress syndrome (NRDS; the total and differential leukocyte counts were measured in their peripheral blood. The levels of the cytokines IL-1^3, IL-4, IL-6, and TNF-a were studied in different biological fluids of mothers and their babies; the placentas were also morphologically examined. Results. An analysis of bacterial cultures from the tracheobronchial tree revealed no growth of bacterial microflora in 61.8% of cases, Enterococcus faecalis and Staphylococcus epidermidis were isolated in 6.4 and 8.3% of the infants, respectively; Staphylococcus haemolyticus, Staphylococcus capitis, Enterobacter agglomerans, and hemolytic group A Streptococcus were seen in 1.9% each; moreover, 1.3% of the newborn infants were found to have Bacillus spp., Staphylococcus aureus, Escherichia coli, Acinetobacter spp., and Serratia marcescens. Other microorganisms and a microbial association were encountered in 8.9% of cases. Placental morphological examination revealed different inflammatory changes concurrent with chronic and acute placental insufficiency. The investigation demonstrated that the maternal peripheral plasma levels of IL-1^, IL-4, IL-6, and TNF-a were within the physiological range at the end of the first period of delivery. The amniotic fluid displayed elevated IL-6 and TNF-a concentrations and normal IL-4 and IL-1e levels, suggesting that there was an intrauterine inflammatory process. Conclusion. Premature birth is associated with various placental inflammatory changes, which causes intrauterine stimulation of macrophages in the chorionic villi. Specific immune defense mechanisms that prevent the development of a fetal infectious process, i.e. the maternal infectious process, may induce

  14. Prematurity, atopy, and childhood asthma in Puerto Ricans.

    Science.gov (United States)

    Rosas-Salazar, Christian; Ramratnam, Sima K; Brehm, John M; Han, Yueh-Ying; Boutaoui, Nadia; Forno, Erick; Acosta-Pérez, Edna; Alvarez, María; Colón-Semidey, Angel; Canino, Glorisa; Celedón, Juan C

    2014-02-01

    Puerto Rican children share a disproportionate burden of prematurity and asthma in the United States. Little is known about prematurity and childhood asthma in Puerto Rican subjects. We sought to examine whether prematurity is associated with asthma in Puerto Rican children. We performed a case-control study of 678 children aged 6 to 14 years with (n = 351) and without (n = 327) asthma living in San Juan, Puerto Rico. Prematurity was defined by parental report for our primary analysis. In a secondary analysis, we only included children whose parents reported prematurity that required admission to the neonatal intensive care unit. Asthma was defined as physician-diagnosed asthma and wheeze in the prior year. We used logistic regression for analysis. All multivariate models were adjusted for age, sex, household income, atopy (≥1 positive IgE level to common allergens), maternal history of asthma, and early-life exposure to environmental tobacco smoke. In a multivariate analysis there was a significant interaction between prematurity and atopy on asthma (P = .006). In an analysis stratified by atopy, prematurity was associated with a nearly 5-fold increased odds of asthma in atopic children (adjusted odds ratio, 4.7; 95% CI, 1.5-14.3; P = .007). In contrast, there was no significant association between prematurity and asthma in nonatopic children. Similar results were obtained in our analysis of prematurity requiring admission to the neonatal intensive care unit and asthma. Our results suggest that atopy modifies the estimated effect of prematurity on asthma in Puerto Rican children. Prematurity might explain, in part, the high prevalence of atopic asthma in this ethnic group. Copyright © 2013 American Academy of Allergy, Asthma & Immunology. Published by Mosby, Inc. All rights reserved.

  15. Effect of obesity on neonatal outcomes in pregnancies with preterm premature rupture of membranes.

    Science.gov (United States)

    Faucett, Allison M; Metz, Torri D; DeWitt, Peter E; Gibbs, Ronald S

    2016-02-01

    Maternal obesity is associated with increased systemic inflammation and an increased risk of preterm premature rupture of membranes. There is an established association between an inflammatory intrauterine environment and adverse neonatal outcomes that is independent of gestational age and mediated by the fetal inflammatory response. It is unknown whether the maternal systemic inflammation that is present in obese women influences the intrauterine environment and predisposes the fetus to adverse neonatal outcomes after preterm premature rupture of membranes. The purpose of this study was to determine whether maternal obesity is associated with adverse neonatal outcomes in pregnancies that are complicated by preterm premature rupture of membranes. This was a secondary analysis of the Maternal-Fetal Medicine Units Network Randomized Clinical Trial on the Beneficial Effects of Antenatal Magnesium Sulfate. Women with singleton pregnancies that were affected by preterm premature rupture of membranes who delivered live-born infants between 24 + 0 and 33 + 6 weeks of gestation were included. An adverse neonatal outcome was defined as a composite outcome of neonatal death, severe necrotizing enterocolitis, respiratory distress syndrome, sepsis, or severe intraventricular hemorrhage. The rates of the composite outcome were compared between obese (body mass index, ≥30 kg/m(2)) and nonobese women. Multivariable logistic regression was used to evaluate the independent effect of obesity on neonatal outcomes. Magnesium sulfate administration, steroid administration, maternal diabetes mellitus, gestational age at delivery, indomethacin exposure, birthweight, and chorioamnionitis were all considered as possible covariates in the multivariable regression models. Three hundred twenty-five of the 1288 women (25.2%) who were included were obese, and 202 of these women (62.2%) had neonates with adverse outcomes. In univariable analysis, maternal prepregnancy obesity was associated

  16. 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

  17. Modeling premature brain injury and recovery

    Science.gov (United States)

    Scafidi, Joey; Fagel, Devon M.; Ment, Laura R.; Vaccarino, Flora M.

    2009-01-01

    Premature birth is a growing and significant public health problem because of the large number of infants that survive with neurodevelopmental sequelae from brain injury. Recent advances in neuroimaging have shown that although some neuroanatomical structures are altered, others improve over time. This review outlines recent insights into brain structure and function in these preterm infants at school age and relevant animal models. These animal models have provided scientists with an opportunity to explore in depth the molecular and cellular mechanisms of injury as well as the potential of the brain for recovery. The endogenous potential that the brain has for neurogenesis and gliogenesis, and how environment contributes to recovery, are also outlined. These preclinical models will provide important insights into the genetic and epigenetic mechanisms responsible for variable degrees of injury and recovery, permitting the exploration of targeted therapies to facilitate recovery in the developing preterm brain. PMID:19482072

  18. Bmi-1 absence causes premature brain degeneration.

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    Guangliang Cao

    Full Text Available Bmi-1, a polycomb transcriptional repressor, is implicated in cell cycle regulation and cell senescence. Its absence results in generalized astrogliosis and epilepsy during the postnatal development, but the underlying mechanisms are poorly understood. Here, we demonstrate the occurrence of oxidative stress in the brain of four-week-old Bmi-1 null mice. The mice showed various hallmarks of neurodegeneration including synaptic loss, axonal demyelination, reactive gliosis and brain mitochondrial damage. Moreover, astroglial glutamate transporters and glutamine synthetase decreased in the Bmi-1 null hippocampus, which might contribute to the sporadic epileptic-like seizures in these mice. These results indicate that Bmi-1 is required for maintaining endogenous antioxidant defenses in the brain, and its absence subsequently causes premature brain degeneration.

  19. [Inguinal herniotomy in prematurely born infants].

    Science.gov (United States)

    Marinković, S; Bukarica, S; Cvejanov, M; Peković-Zrnić, V; Jokić, R; Dobanovacki, D

    1998-01-01

    Inguinal hernia is the most common surgical condition in childhood; more than half of the cases occur during infancy (1, 2). As the number of surviving premature infants continues to grow, the pediatric surgeon has become more involved in the management of these hernias (3, 4). Several issues are contentious, such as the optimal time for herniotomy after diagnosis (5), the role of contralateral exploration, and the proper management for incarcerated inguinal hernia (6). Based on our experience, we attempted to study the above points in the infant population and we also examined the role of ventilator therapy in the etiology of inguinal hernia. We performed a retrospective review of records of all infants under 6 months of age who underwent a repair of inguinal hernia at the Clinic for Pediatric Surgery in Novi Sad between January 1994 and December 1996. After surgery, all infants were included in a 6-week follow-up examination. During this period, 144 infants under 6 months of age underwent inguinal hernia repair. There were 114 males and 30 females. Fourteen patients had bilateral hernias at the time of presentation. Incarceration occurred in 32 infants (22%), that is in 27 of the 99 full-term cases (27%) and in 5 of the 45 preterm cases (11%). Only in three cases (8%) did it occur while the infant was awaiting repair. Over 90% of the full-term infants had their hernias repaired within 3 weeks from diagnosis. After reduction of incarceration, our policy is to operate within 24 to 48 hours. Four testicles appeared to be ischemic; one of these was excised. Patchy bowel ischemia was present in six cases, and bowel resection was required in one. The ovary and tube were twisted and ischemic at the time of operation, requiring oophorectomy in two female infants. Forty-five infants were premature. The mean age at the time of diagnosis was 8 weeks; at the time of herniotomy, it was 13 weeks. In the 24- to 28-week group, 44 of hernias were bilateral, and 7 of the 9 infants

  20. Modern Approach in Premature Ovarian Failure

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    Pacu Irina

    2014-09-01

    Full Text Available Premature ovarian failure (POF is a condition affecting 1-2% of women younger than 40 years of age, characterized by amenorrhea, hypoestrogenism and elevated gonadotropin levels. In the last years it became a problem of social health interest as the frequency increased due to environmental factors and new, efficient methods for cancer treatment in young women. Few genes have beed identified to explain cases of POF but there are also autoimmune associated conditions and an increasing number of iatrogenic cases (chemotherapy, surgery, radiotherapy. Modern approach in POF means not only a precise etiological diagnosis, but also a correct counseling for these patients who often want to become parents, and a chance for a healthy life without the long term consequences of estrogen deprivation from an early age. In vitro fertilization (IVF techniques can be useful for certain cases but research is needed on strategies to improve fertility for women who have follicles remaining in the ovaries.

  1. ['Steroid psychosis' during treatment for premature labour].

    Science.gov (United States)

    Koster, Myrthe I M E; de Jong, Mark H; Derksen, Marees Th; Van Gool, Arthur R

    2011-01-01

    A 30-year-old woman, 33 weeks pregnant, without a significant psychiatric history, was admitted for treatment of premature labour. She was treated with betamethasone intramuscularly, with a total dose of 24 mg divided over 2 days, and nifedipine orally with beneficial effect on the contractions. However, within 24 h after completion of tocolytic treatment, she developed a psychosis with delusions and hallucinations necessitating readmission, first to an obstetric ward, later to a psychiatric ward. At least part of this episode may be characterized as delirium. Eventually, she was treated with haloperidol. It is argued that her psychosis was caused by the corticosteroid, since psychiatric disturbance is a well-known complication of corticosteroid therapy. To our knowledge, psychosis during pregnancy as a result of treatment with corticosteroids has not been reported previously.

  2. Lactoferrin and prematurity: a promising milk protein?

    Science.gov (United States)

    Ochoa, Theresa J; Sizonenko, Stéphane V

    2017-01-01

    Lactoferrin (Lf) is the major whey protein in milk with multiple beneficial health effects, including direct anti-microbial activities, anti-inflammatory effects and iron transporter. Iron homeostasis in the foetus, the neonate and preterm infant is crucial for adequate growth and development. Lf oral supplementation in human preterm infants has been shown to reduce the incidence of sepsis and necrotizing enterocolitis. In preclinical models of antenatal stress and perinatal brain injury bovine Lf protected the developing brain from neuronal loss, improved connectivity, increased neurotrophic factors and decreased inflammation. It also supported brain development and cognition. Further, Lf could prevent preterm delivery, through a reduction of pro-inflammatory factors and inhibition of premature cervix maturation. We review here the latest research on lactoferrin in the field of neonatology. PMID:28085488

  3. Premature and accelerated ageing: HIV or HAART?

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    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.

  4. ER visits predict premature death among teenagers.

    Science.gov (United States)

    Johansson, Lars; Stenlund, Hans; Bylund, Per-Olof; Eriksson, Anders

    2012-09-01

    The purpose of this study was to investigate if teenagers visiting an emergency room because of injury have an increased risk of premature death ahead and, if so, identify possible risk factors and suggest preventive measures. In January 2010, the personal identity numbers of 12,812 teenagers who had visited the emergency room at the University Hospital in Umeå, Sweden, during 1993 through 2006 because of injury were checked against the National Cause of Death Register in Sweden. Standardised mortality ratio and confidence intervals were calculated. For the unnatural deaths that took place in Sweden, the police report, autopsy protocol, and hospital records, if present, were studied. Thirty-eight fatalities were included giving a standardised mortality ratio of 1.44 (95% CI: 1.02-1.98). A majority of the decedents were males (n=32, 84%) and the median age at the time of death was 21 years. Twenty-three deaths were caused by unintentional injuries and ten by intentional injuries (all suicides), while five deaths were categorised as undetermined whether intentional or not. Seventy-four percent tested positive for either alcohol or drugs or a combination at the post mortem examination. Nine males and one female committed suicide, five tested positive for alcohol (one also for drugs), while four tested negative at the post mortem examination. One died abroad and in this case we lack information on alcohol and drugs. Teenagers visiting an emergency room due to injury experience an increased risk of premature death by unnatural cause and those at risk are especially males. The use of alcohol and drugs often seems to contribute to their untimely deaths. Identifying those at risk when they visit the emergency room for an injury and to take preventive actions at this stage could be a way to reduce the number of fatalities. Copyright © 2012 Elsevier Ltd. All rights reserved.

  5. Beryllium induces premature senescence in human fibroblasts.

    Science.gov (United States)

    Coates, Shannon S A; Lehnert, Bruce E; Sharma, Sunil; Kindell, Susan M; Gary, Ronald K

    2007-07-01

    After cells have completed a sufficient number of cell divisions, they exit the cell cycle and enter replicative senescence. Here, we report that beryllium causes proliferation arrest with premature expression of the principal markers of senescence. After young presenescent human fibroblasts were treated with 3 microM BeSO(4) for 24 h, p21 cyclin-dependent kinase inhibitor mRNA increased by >200%. Longer periods of exposure caused mRNA and protein levels to increase for both p21 and p16(Ink4a), a senescence regulator that prevents pRb-mediated cell cycle progression. BeSO(4) also caused dose-dependent induction of senescence-associated beta-galactosidase activity (SA-beta-gal). Untreated cells had 48 relative fluorescence units (RFU)/microg/h of SA-beta-gal, whereas 3 microM BeSO(4) caused activity to increase to 84 RFU/microg/h. In chromatin immunoprecipitation experiments, BeSO(4) caused p53 protein to associate with its DNA binding site in the promoter region of the p21 gene, indicating that p53 transcriptional activity is responsible for the large increase in p21 mRNA elicited by beryllium. Forced expression of human telomerase reverse transcriptase (hTERT) rendered HFL-1 cells incapable of normal replicative senescence. However, there was no difference in the responsiveness of normal HFL-1 fibroblasts (IC(50) = 1.9 microM) and hTERT-immortalized cells (IC(50) = 1.7 microM) to BeSO(4) in a 9-day proliferation assay. The effects of beryllium resemble those of histone deacetylase-inhibiting drugs, which also cause large increases in p21. However, beryllium produced no changes in histone acetylation, suggesting that Be(2+) acts as a novel and potent pharmacological inducer of premature senescence.

  6. Anemia of prematurity : time for a change in transfusion management?

    NARCIS (Netherlands)

    Khodabux, Chantal Muriel

    2013-01-01

    In this thesis we investigated clinical effects of allogeneic red blood cell (RBC) transfusions in premature infants, different transfusion volumes in relation to neonatal outcome in premature infants and the use of autologous cord blood (CB) as an alternative for allogeneic transfusions. Despite

  7. Retinopathy of prematurity: a review | Ajibode | Nigerian Journal of ...

    African Journals Online (AJOL)

    Retinopathy of prematurity [ROP], previously called retrolental fibroplasia, is a vasoproliferative retinopathy that occurs principally, but not exclusively in premature and low-birth-weight infants. It occurs in two overlapping phases, namely, (a) an acute phase in which normal vasculogenesis is interrupted and a response to ...

  8. Premature graying of hair: An independent risk marker for coronary ...

    African Journals Online (AJOL)

    BACKGROUND: Premature graying of hair as a risk marker among young smokers has a potential of identifying coronary artery disease (CAD) at a very early stage. There is absence of literature that assesses premature graying of hair as an independent marker of CAD in smokers. MATERIAL AND METHODS: The present ...

  9. 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

  10. 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....

  11. Palliative Care for Extremely Premature Infants and Their Families

    Science.gov (United States)

    Boss, Renee D.

    2010-01-01

    Extremely premature infants face multiple acute and chronic life-threatening conditions. In addition, the treatments to ameliorate or cure these conditions often entail pain and discomfort. Integrating palliative care from the moment that extremely premature labor is diagnosed offers families and clinicians support through the process of defining…

  12. [Complete triploidy in a liveborn premature (author's transl)].

    Science.gov (United States)

    Rico, S; Skinner, C; Lechuga, J L; Fernández, E; Serrano, J; Casanova, M; Argemí, J; López, A; Castro, J M

    1980-01-01

    Authors describe the clinical, pathological and cytogenetic data of a polymalformed premature with a complete a triploidy 69,XXY). This rare condition (30 cases in the literature) may be suspected in a premature with broad posterior fontanella, eye and ear anomalies, syndactily between IV and III fingers/toes, intersexual status and mielomeningocele. Frequently the placenta presents a molar or micromolar degeneration.

  13. Antibiotics after preterm premature rupture of the membranes.

    Science.gov (United States)

    Singh, Katherine; Mercer, Brian

    2011-06-01

    Preterm premature rupture of the membranes remains a common cause of preterm deliveries and neonatal morbidities. The goal of this study is to review the evidence with regard to the antibiotic treatment after preterm premature rupture of the membranes, long-term outcomes related to antibiotic treatment, and possible complications with treatment. Future research goals are also discussed.

  14. Premature Menopause | Okeke | Annals of Medical and Health ...

    African Journals Online (AJOL)

    Premature menopause affects 1% of women under the age of 40 years. The women are at risk of premature death, neurological diseases, psychosexual dysfunction, mood disorders, osteoporosis, ischemic heart disease and infertility. There is need to use simplified protocols and improved techniques in oocyte donation to ...

  15. Lung function and exercise capacity in young adults born prematurely

    NARCIS (Netherlands)

    Vrijlandt, EJLE; Gerritsen, J; Boezen, HM; Grevink, RG; Duiverman, EJ

    2006-01-01

    Rationale: Limited information is available about the long-term outcome of lung function and exercise capacity in young adults born prematurely. Objective: To determine long-term effects of prematurity on lung function (volumes, diffusing capacity) and exercise capacity in expreterms compared with

  16. Research Paper Risk factors for premature termination of treatment ...

    African Journals Online (AJOL)

    Objective: Premature termination of treatment amongst children and families attending mental health services is a significant problem for both outcomes research and clinical practice in South Africa and elsewhere. This study investigated factors that are associated with premature termination of treatment at a public service ...

  17. Intrauterine myelomeningocele repair: effect on short-term complications of prematurity.

    Science.gov (United States)

    Hamdan, A H; Walsh, W; Bruner, J P; Tulipan, N

    2004-01-01

    To determine whether short-term complications of prematurity are affected by intrauterine myelomeningocele repair. Medical records of the first 100 infants undergoing intrauterine myelomeningocele repair (IUMR) at the Vanderbilt University Medical Center were reviewed. Infants born at <34 weeks' gestation were identified. Two controls were identified for each IUMR infant. Controls were matched for gestational age, sex, birth weight, antenatal steroids, and mode and month of delivery. Development of respiratory distress syndrome, intraventricular hemorrhage, and chronic lung disease and days on ventilator and length of hospital stay were recorded. The results are expressed as mean values and ranges. Comparison of data between groups was performed using the Mann-Whitney U test. Categorical data were compared using the chi-square test and Fisher's exact test. p syndrome (29.7 vs. 31.1%; p = 0.8). Six infants from the IUMR group and 13 infants from the control group developed chronic lung disease (16.2 vs. 17.5%; p = 0.9). The length of stay was 28 (range 2-82) days for the IUMR group and 24 (range 1-99) days (p = 0.09) for the control group. There was also no significant difference between groups with regard to intraventricular hemorrhage and days on ventilators. There is no difference between short-term complications of prematurity following IUMR and those associated with prematurity resulting from other causes. Copyright 2004 S. Karger AG, Basel

  18. The role of autoimmunity in premature ovarian failure

    Directory of Open Access Journals (Sweden)

    Mahbod Ebrahimi

    2015-08-01

    Full Text Available Premature ovarian failure (POF is a heterogeneous syndrome with several causative factors. Autoimmune mechanisms are involved in pathogenesis of 4-30 % of POF cases. The present review focuses on the role of autoimmunity in the pathophysiology of POF. The evidences for an autoimmune etiology are: demonstration of ovarian autoantibodies, the presence of lymphocytic oophoritis, and association with other autoimmune disorders. Several ovarian antigenic targets have been identified in POF patients. The oocyte seems to be the most often targeted cell. Lymphocytic oophoritis is widely present in POF associated adrenal insufficiency. Addisonۥs disease is one of the most common autoimmune disorders associated with POF. Early detection of this potentially life threatening disease was recommended in several studies. The gold standard for detecting autoimmune POF is ovarian biopsy. This procedure is not recommended due to unknown clinical value, expense, and risks. Several immunoassays have been proposed as substitute diagnostic tools. Nevertheless, there is no clinically proven sensitive and specific serum test to confirm the diagnosis of autoimmune POF or to anticipate the patient’s chance of developing POF or associated diseases. Some authors suggested the possible effects of immuno-modulating therapy on the resumption of ovarian function and fertility in a selected group of autoimmune POF patients. However, in most instances, this treatment fails to reverse the course of the disease. Numerous studies illustrated that standard treatment outcome for infertility is less effective in the presence of ovarian autoimmunity. The antibody-induced damage could be a pathogenic factor. Nevertheless, the precise cause remains obscure.

  19. Papillon-Lefevre syndrome

    Directory of Open Access Journals (Sweden)

    S Sujatha

    2009-01-01

    Full Text Available Papillon-Lefevre syndrome (PLS is a very rare syndrome of autosomal recessive inheritance characterized by palmar-plantar hyperkeratosis and early onset of a severe destructive periodontitis, leading to premature loss of both primary and permanent dentitions. The palmar-plantar keratoderma typically has its onset between the ages of 1 and 4 years and severe periodontitis starts at the age of 3 or 4 years. The exact pathogenesis of these clinical events remains mainly speculative. An early diagnosis of the syndrome can help preserve the teeth by early institution of treatment, using a multidisciplinary approach. This paper describes a case of PLS with classic clinical features and briefly reviews the relevant literature.

  20. Evaluation of specificity and sensitivity of gastric aspirate shake test to predict surfactant deficiency in Iranian premature infants.

    Science.gov (United States)

    Mehrpisheh, Shahrokh; Mosayebi, Ziba; Memarian, Azadeh; Kadivar, Malihe; Nariman, Shahin; Ostadrahimi, Pouya; Dalili, Hosein

    2015-04-01

    Respiratory failure secondary to pulmonary surfactant deficiency is an important cause of severe respiratory distress in term and preterm infants. The aim of this study was to evaluate the specificity and sensitivity of gastric aspirate shake test (GAST) to predict surfactant deficiency in newly born premature infants in Arash Hospital (Iran) during 2012-13. In this case-control study, the case group comprised 69 premature infants (gestational ageneonatal intensive care unit due to respiratory distress. The control group included 50 healthy infants .GAST test was done. The subjects were finally categorized as healthy or surfactant-deficient based on clinical and radiological assessments. Using statistical methods the sensitivity, specificity, and positive and negative predictive values of GAST were 60%, 75%, 15%, and 52%, respectively. There was a significant difference between respiratory distress syndrome (RDS) scores and receiving surfactant in neonates with gestational age below 34 weeks. Moreover, there were significant differences between GAST results and both radiological findings of RDS and receiving oxygen in premature infants (gestational ageneonates who were born to mothers with hypothyroidism, preeclampsia, diabetes mellitus, and premature rupture of membranes. However, this difference was not significant. According to our findings, the application of GAST on gastric aspirate secretions is not a useful method to predict surfactant deficiency. Therefore, decisions for RDS management must be made based on clinical and radiological findings. Copyright © 2015 International Society for the Study of Hypertension in Pregnancy. Published by Elsevier B.V. All rights reserved.

  1. Postpubertal cherubism with Noonan syndrome.

    Science.gov (United States)

    Ahmed, Bilal; Amin, Muhammad

    2014-03-01

    Cherubism is a self limiting, autosomal dominant, fibro-osseous lesion of the maxillo facial region affecting the young adults. The etiology is considered to be a mutation of the SH3BP2 gene from chromosome 4p16.3. Sporadic non-familial cases have also been reported. The affected subjects usually present with simultaneous, bilateral swellings of the maxillae and/or mandible, premature loss of primary teeth, malocclusion due to disturbed eruption pattern of permanent teeth and a characteristic chubby faced angelic eyed appearance. This usually presents as an isolated finding, however, it can exist in association with syndromes like Noonan's syndrome, Jaffe syndrome, Gardener syndrome and Ollier's disease. Treatment is focused on the exact genetic diagnosis and management of symptomatic conditions utilizing cosmetic surgery and orthodontics. Genetic counselling of the affected families may help to decrease its incidence. This report presents a rare case of cherubism with associated features of Noonan syndrome.

  2. Balance in children born prematurely currently aged 6–7

    Directory of Open Access Journals (Sweden)

    Dziuba Ewa

    2017-12-01

    Full Text Available Study aim: Premature birth is one of the major problems of obstetrics, leading to numerous complications that are associated with prematurity, for instance balance disorders. The aim of the study was to assess the impact of premature birth on the ability to maintain balance in children commencing their school education. Material and methods: The study included children aged 6-7 years. The study group consisted of 59 children (31 girls and 28 boys, mean age 6.38 ± SD 0.73 born prematurely between 24 and 35 weeks of gestation. The control group consisted of 61 children (28 girls and 33 boys, mean age 6.42 ± 0.58 born at term. The research utilized standardized test tools - one-leg open-eyed and closed-eyed standing test, one-leg jumping test - and an original questionnaire survey. Results: The children born at term achieved better results in the majority of tests. The comparison of girls and boys born pre­maturely and at term showed no statistically significant difference between them in terms of dynamic balance, static balance or total balance control. The comparison of the tests performed on the right and left lower limb in prematurely born children showed no statistically significant differences. Conclusion: Premature birth affects the ability to maintain body balance. The results of the study indicate the need to develop coordination skills that shape body balance in prematurely born children.

  3. Genetically Determined Obesity in Prader-Willi Syndrome: The Ethics and Legality of Treatment

    National Research Council Canada - National Science Library

    Anthony J. Holland; Josephine Wong

    1999-01-01

    A central characteristic of people with Prader-Willi Syndrome (PWS) is an apparent insatiable appetite leading to severe overeating and the potential for marked obesity and associated serious health problems and premature death...

  4. UNKNOWN SYNDROME - MENTAL-RETARDATION WITH DYSMORPHIC FEATURES, EARLY BALDING, PATELLA LUXATIONS, ACROMICRIA, AND HYPOGONADISM

    NARCIS (Netherlands)

    SCHOLTE, FA; BEGEER, JH; VANESSEN, AJ

    A patient is described with severe mental retardation, a peculiar face with small palpebral fissures and premature balding, habitual patella luxations, small hands and feet, and hypogonadism, a combination which appears to represent a new syndrome.

  5. Cytogenetic diagnosis of Roberts SC phocomelia syndrome: First report from Kashmir

    Directory of Open Access Journals (Sweden)

    Tahir M. Malla

    2016-01-01

    Full Text Available There are several syndromes in which specific mitotic chromosomal abnormalities can be seen, like premature centromere separation, premature (sister chromatid separation, and somatic aneuploidies. Identifications of such specific cytogenetic findings can be the key factor that leads towards the diagnosis of syndromes like Roberts SC phocomelia. The case presented here as Roberts SC phocomelia syndrome was identified as a child with multiple congenital anomalies and dysmorphic features. Conventional cytogenetic analysis of the case revealed premature sister chromatid separation. The premature centromeric separation was also confirmed by C banding analysis of the child. It is the first and the only case of Roberts SC phocomelia diagnosed from this part of the world. The present case report emphasizes the importance of conventional cytogenetics in the diagnosis of such syndromes.

  6. Early Adiposity Rebound and Premature Adrenarche.

    Science.gov (United States)

    Marakaki, Chrisanthi; Karapanou, Olga; Gryparis, Alexandros; Hochberg, Ze'ev; Chrousos, George; Papadimitriou, Anastasios

    2017-07-01

    To examine differences in the growth pattern and the age at adiposity rebound (AR) between children with premature adrenarche (PA) and their healthy peers (controls). In this cross-sectional study of 82 prepubertal children with PA and 63 controls, the main outcome measures were height and body mass index SDS progression, from birth to presentation at the clinic, baseline biochemical and hormonal evaluation, bone age determination, and age at AR. Children with PA were significantly taller and more adipose than controls from the first years of life. 33% of children with PA presented the growth pattern of constitutional advancement of growth (ie, early growth acceleration) vs 19% of controls (P = .045). Children with PA had an earlier AR compared with controls; mean age at AR in girls with PA was 3.73 (1.03) years vs 4.93 (1.36) years for control girls (P = .001) and in boys with PA was 3.45 (0.73) vs 5.10 (1.50) years in control boys (P = .048). Both obese and nonobese girls with PA were taller and had earlier age at AR compared with nonobese controls. Early AR and constitutional advancement of growth may be triggering factors for adrenal androgen production and PA. Copyright © 2017 Elsevier Inc. All rights reserved.

  7. Maternal and neonatal factors related to prematurity.

    Science.gov (United States)

    Oliveira, Laura Leismann de; Gonçalves, Annelise de Carvalho; Costa, Juvenal Soares Dias da; Bonilha, Ana Lucia de Lourenzi

    2016-01-01

    To identify maternal and neonatal factors associated with prematurity in the municipality of Porto Alegre. This was a population-based case-control study. The cases were newborns under 37 weeks of gestation and the controls were newborns over 37 weeks. The data came from the records of 19,457 births in the city of Porto Alegre in the year 2012 from the Information System on Live Births of the Municipal Health Department. The analysis was carried outand adjusted by a Logistic Regression according to a hierarchical model. The variables studied were allocated into three hierarchy levels: sociodemographic variables; reproductive history; and gestational and birth factors. There were 767 cases allocated and 1,534 controls in a design of a case for two controls (1:2) by simple randomization. In the final model, a statistically significant association was found for prematurity for the following variables: mother's age under 19 years old (OR=1.32; CI 95%: 1.02-1.71) or over 34 years old (OR=1.39; CI 95%: 1.12-1.72); inadequate maternal schooling for age (OR=2.11; CI 95%: 1.22-3.65); multiple pregnancies (OR=1.14; CI 95%: 1.01-1.29); C-section (OR=1.15; CI 95%: 1.03-1.29); birth weights under 2,500g (OR=4.04; CI 95%: 3.64-4.49); Apgar score at five minutes between zero and three (OR=1.47; CI 95%: 1.12-1.91); and inadequate prenatal care (OR=1.18; CI 95%: 1.02-1.36). The present study showed the most immediate consequence of prematurity for newborns by evidencing its association with worse Apgar scores and low birth weight. The following factors were also shown as possible more distal determinants of prematurity: mother's age; inadequate maternal education; multiple gestation; inadequate prenatal care; and C-section. Identificar fatores maternos e neonatais associados à prematuridade no município de Porto Alegre. Estudo do tipo caso-controle de base populacional. Os casos foram recém-nascidos com menos de 37 semanas de gestação, e os controles foram os rec

  8. An overview of pharmacotherapy in premature ejaculation.

    Science.gov (United States)

    Porst, Hartmut

    2011-10-01

    With increasing interest and clinical research in male sexual disorders, it has become clear that not only psychological but also organic, neurobiological, and genetic factors may play an important role in premature ejaculation (PE). This article provides an overview of the different treatment options both for lifelong (primary, "congenital") and acquired (secondary) PE. Review of the literature. Currently used treatment options for PE. Treatments reviewed include psychological/behavioral/sexual counseling therapy, topical anesthetics, dapoxetine, and other selective serotonin reuptake inhibitors (SSRIs), tricyclic antidepressants, and phosphodiesterase-5 (PDE-5) inhibitors. Before starting any therapy for PE, correct diagnosis has to be made considering the patient's reported intravaginal ejaculatory latency time (IELT) and the duration and type of PE. Concomitant erectile dysfunction (ED) should be either ruled out or proven by appropriate means. In uncomplicated cases of PE with stable partnerships, medical treatment represents the first-choice option with a high likelihood of success. Dapoxetine, where available, or other SSRIs provide suitable therapeutic options with a good risk/benefit profile for patients. In complicated ("difficult-to-treat") PE patients, a combination of medication and sexual counseling should be considered the first treatment option. Combination therapies of PDE-5 inhibitors and PE-related medications should be offered to patients suffering from comorbid PE and ED, with ED treatment starting first. In those patients with severe PE-IELTs of IELT, compared with either monotherapy. 2011 International Society for Sexual Medicine.

  9. Telomeres, telomerase and premature ovarian failure

    Directory of Open Access Journals (Sweden)

    Renata Košir Pogačnik

    2011-11-01

    Full Text Available Telomeres are specialized structures at the ends of chromosomes, consisting of six repeated nucleotides in TTAGGG sequence. Genome stability is partly maintained by the architecture of telomeres and is gradually lost as telomeres progressively shorten with each cell replication. Critically shortened telomeres are recognized by DNA repair mechanisms as DNA damage and the cell replication cycle stops. The cell eventually dies or undergoes cell apoptosis. Telomere represents a cellular marker of biological age and are therefore also called cell mitotic clock. The enzyme that counteracts telomere shortening by adding nucleotides to the 3’ end of DNA strand is called telomerase. It is composed of the RNA subunit (TR, which is special type of messenger RNA (mRNA, the catalytic protein subunit (TERT, which works as a reverse transcriptase and numerous additional proteins. Telomerase is active in some germline, epithelial and haemopoietic cells, but in most somatic cells the activity is undetectable. In literature, the length of telomeres is closely connected with premature ovarian failure (POF. POF is generally defined as the onset of menopause before the age of 40. The causes of disease are genetical, autoimmune, iatrogenic or if we cannot establish the cause – idiopathic. A lot of studies examined correlation between idiopathic POF, length of telomeres and telomerase activity. The studies mostly show that women with POF have shortened telomeres and decreased activity of telomerase as compared to healthy women.

  10. Serotonin syndrome

    Science.gov (United States)

    Hyperserotonemia; Serotonergic syndrome; Serotonin toxicity; SSRI - serotonin syndrome; MAO - serotonin syndrome ... brain area. For example, you can develop this syndrome if you take migraine medicines called triptans together ...

  11. [Nursing diagnoses of premature infant under intermediary care].

    Science.gov (United States)

    Del'Angelo, Natália; de Góes, Fernanda dos Santos Nogueira; Dalri, Maria Célia Barcellos; Leite, Adriana Moraes; Furtado, Maria Cândida de Carvalho; Scochi, Carmen Gracinda Silvan

    2010-01-01

    The study aims at identifying nursing diagnoses of premature infants attended in a neonatal intermediary care unit in the countryside of São Paulo State, Brazil. That was a retrospective study conducted from 118 patient records of hospitalized premature infants. The most frequent nursing diagnosis were sleep deprivation (83.1%), risk for infection (76.3%) and dysfunctional family processes (75.4%), belonging to NANDA domains: activity/rest, security/protection and role relations, this order. Study results articulated the diagnosis frequency with NANDA domain to which they belong identifying their approach limitation and main domains pointed in assistance systematization to premature newborn in intermediary care.

  12. Cockayne syndrome: a case report.

    Science.gov (United States)

    O'Brien, F C; Ginsberg, B

    1994-08-01

    A 4-year-old female with Cockayne syndrome presented for cataract extraction under general anesthesia. She was thin and frail; her neck, epiglottis and larynx were stiff; she was deaf and blind; and she could not speak, sit unaided, or perspire. At the time of her admission, she weighed 5.5 kg. Cockayne syndrome is a disease of childhood characterized by mental retardation and premature aging. Although the underlying abnormality appears to be autosomal recessive inheritance or metabolic (possibly thymic) dysfunction, there is no consensus on etiology. The multiple organ involvement carries significant implications for the anesthetist. Intubation can be technically difficult, and care of the skin can be problematic. Essential hypertension, hepatic deficiencies, osteoporosis, deafness, blindness, and other effects of premature aging may be encountered making perioperative management a challenge.

  13. Emerging and investigational drugs for premature ejaculation.

    Science.gov (United States)

    McMahon, Chris G

    2016-08-01

    Over the past 20-30 years, the premature ejaculation (PE) treatment paradigm, previously limited to behavioural psychotherapy, has expanded to include drug treatment. Pharmacotherapy for PE predominantly targets the multiple neurotransmitters and receptors involved in the control of ejaculation which include serotonin, dopamine, oxytocin, norepinephrine, gamma amino-butyric acid (GABA) and nitric oxide (NO). The objective of this article is to review emerging PE interventions contemporary data on the treatment of PE was reviewed and critiqued using the principles of evidence-based medicine. Multiple well-controlled evidence-based studies have demonstrated the efficacy and safety of selective serotonin reuptake inhibitors (SSRIs) in delaying ejaculation, confirming their role as first-line agents for the medical treatment of lifelong and acquired PE. Daily dosing of SSRIs is likely to be associated with superior fold increases in IELT compared to on-demand SSRIs. On-demand SSRIs are less effective but may fulfill the treatment goals of many patients. Integrated pharmacotherapy and CBT may achieve superior treatment outcomes in some patients. PDE-5 inhibitors alone or in combination with SSRIs should be limited to men with acquired PE secondary to co-morbid ED. New on-demand rapid acting SSRIs, oxytocin receptor antagonists, or single agents that target multiple receptors may form the foundation of more effective future on-demand medication. Current evidence confirms the efficacy and safety of dapoxetine, off-label SSRI drugs, tramadol and topical anaesthetics drugs. Treatment with α1-adrenoceptor antagonists cannot be recommended until the results of large well-designed RCTs are published in major international peer-reviewed medical journals. As our understanding of the neurochemical control of ejaculation improves, new therapeutic targets and candidate molecules will be identified which may increase our pharmacotherapeutic armamentarium.

  14. [Disinfectants for the skin of premature].

    Science.gov (United States)

    Cucurachi, G; Tuoto, M G

    2010-06-01

    Nosocomial infections are among the leading causes of mortality and morbidity in neonatal intensive care units. Prevention of healthcare-associated infections is based on strategies that aim to limit susceptibility to infections by enhancing host defences, interrupting trasmission of organisms by healthcare workers and by promoting the judicious use of antimicrobials. Strategies for the prevention of nosocomial infections include hand hygiene practices, prevention of central venous (cvc)-related bloodstream infections, judicious use of antimicrobials for therapy, enhancement of host defences, skin care and early enteral feeding with human milk. Major concerns about the use of alcoholic chlorhexidine are for the high risk of skin burns in extremely premature infants during the first days of life, when the skin is thin and not fully keratinesed. Aqueous chlorhexidine could be less irritant when used in very low birthweigth infants and thus could represent a good option. A recent prospective trial of adult patients showed similar effectiveness of alcoholic and aqueos solutions of chlorexidine. However, to date no study evaluated whether the aqueos formulation is less harmful and as effective as the alcoholic formulation in neonatal infants. The lack of evidence for neonatal patients prompts urgent need for large randomised controlled trials comparing effectiveness and safety of different skin disinfectants before CVC placement in neonates and particulary in very low birth-weight infants. Nosocomial infections are still of the most serious problems for the neonatal intensive care unit. Therefore every effort must be implemented to reduce the incidence of these infections, can not be considered a toll required hospitalization, as it may not be acceptable for a place of shelter and care as the hospital may itself be a source of disease.

  15. 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.

  16. Premature ejaculation: do we have effective therapy?

    Science.gov (United States)

    Serefoglu, Ege Can; Saitz, Theodore R; Trost, Landon; Hellstrom, Wayne J G

    2013-03-01

    Premature ejaculation (PE) is the most common sexual dysfunction, with the majority of PE patients remaining undiagnosed and undertreated. Despite its prevalence, there is a current paucity of data regarding available treatment options and mechanisms. The objective of the current investigation is to review and summarize pertinent literature on therapeutic options for the treatment of PE, including behavioral/psychologic, oral pharmacotherapy, and surgery. A pubmed search was conducted on articles reporting data on available treatment options for PE. Articles describing potential mechanisms of action were additionally included for review. Preference was given towards randomized, controlled trials, when available. PE remains an underdiagnosed and undertreated disease process, with limited data available regarding potential underlying mechanisms and long-term outcomes of treatment options. Psychological/behavioral therapies, including the stop-start, squeeze, and pelvic floor rehabilitation techniques have demonstrated improvements in short-term series, with decreased efficacy with additional follow-up. Topical therapies, which are commonly utilized result in prolonged intravaginal ejaculatory latency time (IELT) at the expense of potential penile/vaginal Hypothesia. Oral therapies similarly demonstrate improved IELTs with variable side effect profiles and include selective serotonin reuptake inhibitors (daily or on demand), phosphodiesterase-5 inhibitors, alpha-1 adrenergic antagonists, and tramadol. Alternative therapies such as acupuncture have shown benefits in limited studies. Surgery is not commonly performed and is not recommended by available guidelines. PE is a common condition, with limited data available regarding its underlying pathophysiology and treatment. Available therapies include topical, oral, behavioral/psychologic modification, or a combination thereof. Additional research is required to assess the optimal treatment strategies and algorithms as

  17. Premature death rates diverge in the United States

    Science.gov (United States)

    An NCI press release on a study that shows premature death rates have declined in the United States among Hispanics, blacks, and Asian/Pacific Islanders but increased among whites and American Indian/Alaska Natives.

  18. 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

    dysfunction and its overall contribution to body homeostasis in progeria and other lipodystrophy syndromes as well as to develop novel strategies to prevent or ameliorate these diseases.

  19. Premature Growth Plate Closure in a Ballet Dancer en Pointe.

    Science.gov (United States)

    Shah, Selina

    2017-09-01

    A 13-year-old ballet dancer who had been dancing en pointe (on the tips of the toes) since 10 years presented to the clinic with a shortened right second toe. She had no previous history of pain or trauma. She was diagnosed with premature growth arrest of the second metatarsal head physes resulting in a shortened metatarsal. This is the first reported case of premature growth arrest in a ballet dancer as a result of dancing en pointe.

  20. [Randomized controlled trials terminated prematurely: beneficial therapy effects].

    Science.gov (United States)

    Kluth, L A; Rink, M; Ahyai, S A; Fisch, M; Shariat, S F; Dahm, P

    2013-08-01

    Randomized controlled trials (RCTs) stopped prematurely for beneficial therapy effects are becoming increasingly more prevalent in the urological literature and often receive great attention in the public and medical media. Urologists who practice evidence-based medicine should be aware of the potential bias and the different reasons why and how early termination of RCTs can and will affect the results. This review provides insights into the challenges clinical urologists face by interpreting the results of prematurely terminated RCTs.

  1. Sleep deprivation, pain and prematurity: a review study

    OpenAIRE

    Kelly Cristina Santos de Carvalho Bonan; João da Costa Pimentel Filho; Rosana Maria Tristão; José Alfredo Lacerda de Jesus; Dioclécio Campos Junior

    2015-01-01

    The aim was to describe current reports in the scientific literature on sleep in the intensive care environment and sleep deprivation associated with painful experiences in premature infant. A systematic search was conducted for studies on sleep, pain, premature birth and care of the newborn. Web of Knowledge, MEDLINE, LILACS, Cochrane Library, PubMed, EMBASE, Scopus, VHL and SciELO databases were consulted. The association between sleep deprivation and pain generates effects that are observe...

  2. Neonatal outcome in pregnancies that presented premature rupture of membranes

    OpenAIRE

    Marcela Lima Silveira; Náira de Oliveira Caminha; Rosiléa Alves de Sousa; Sarah Maria Fraxe Pessoa; Eloah de Paula Pessoa Gurgel; Dylmara Maria Prudêncio Cavalcante

    2014-01-01

    This study aimed to describe the neonatal outcomes of infants whose mothers had premature rupture of membranes during pregnancy. This is a retrospective, descriptive, quantitative study performed in a public maternity in Fortaleza-CE, Brazil, with 166 neonates of mothers with premature rupture of membranes, in 2010. Data were collected through research in medical records using a pre-structured form. There was a predominance of newborns at term with good birth weight and adequate vitality. Sta...

  3. Acute Associations between Outdoor Temperature and Premature Rupture of Membranes.

    Science.gov (United States)

    Ha, Sandie; Liu, Danping; Zhu, Yeyi; Sherman, Seth; Mendola, Pauline

    2017-10-30

    Extreme ambient temperatures have been linked to preterm birth. Preterm premature rupture of membranes is a common precursor to preterm birth but is rarely studied in relation to temperature. We linked 15 381 singleton pregnancies with premature rupture of membranes from a nationwide US obstetrics cohort (2002-2008) to local temperature. Case-crossover analyses compared daily temperature during the week preceding delivery and the day of delivery to two control periods, before and after the case period. Conditional logistic regression models calculated the odds ratio (OR) and 95% confidence intervals (CI) of preterm and term premature rupture of membranes for a 1˚C increase in temperature during the warm (May-September) and cold (October-April) season separately after adjusting for humidity, barometric pressure, ozone and particulate matter. During the warm season, 1˚C increase during the week before delivery was associated with a 5% (95% CI: 3-6%) increased preterm premature rupture of membranes risk, and a 4% (95% CI: 3-5%) increased term premature rupture of membranes risk. During the cold season, 1˚C increase was associated with a 2% decreased risk for both preterm (95% CI: 1-3%) and term premature rupture of membranes (95% CI: 1-3%). The day-specific associations for the week before delivery were similar, but somewhat stronger for days closer to delivery. Relatively small ambient temperature changes were associated with the risk of both preterm and term premature of membranes. Given the adverse consequences of premature rupture of membranes and concerns over global climate change, these findings merit further investigation.

  4. Juvenile Myelomonocytic Leukemia in a Premature Neonate Mimicking Neonatal Sepsis

    Directory of Open Access Journals (Sweden)

    Ming-Luen Lee

    2016-04-01

    Full Text Available Juvenile myelomonocytic leukemia (JMML is a rare hematologic malignancy in children. Its presentations include anemia, thrombocytopenia, monocytosis, skin rash, marked hepatomegaly, and/or splenomegaly. Fever and respiratory involvement are common. Here, we report a case of a premature neonate with initial symptoms of respiratory distress. She gradually developed clinical manifestations of JMML that mimicked neonatal sepsis. Three weeks after birth, JMML was diagnosed. This is the first reported case of JMML presenting in a premature infant in Taiwan.

  5. Smokers? hair: Does smoking cause premature hair graying?

    OpenAIRE

    Zayed, Ayman A.; Shahait, Awni D.; Ayoub, Musa N.; Yousef, Al-Motassem

    2013-01-01

    Aims: To determine if there is a significant association between premature hair graying and cigarette smoking. Materials and Methods: A cross-sectional observational study was conducted in a nonclinical setting on 207 participants on August 24 until 25, 2010. Participants were classified into two groups [premature hair graying (PHG) and normal hair graying]. PHG was defined as the first appearance of gray hair before the age of 30. Data were collected using an interview questionnaire and meas...

  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. Beer consumption and premature mortality in Louisiana: an ecologic analysis.

    Science.gov (United States)

    Cohen, Deborah A; Mason, Karen; Farley, Thomas A

    2004-05-01

    This study was conducted to determine whether beer consumption is associated with premature mortality across municipalities in Louisiana. We conducted a cross-sectional ecologic study using tax data on the sales of beer and mortality data from Louisiana. We aggregated deaths that occurred before the age of 65 to the level of the municipality and calculated age-adjusted rates of both overall premature mortality and specific causes of premature mortality that may be related to alcohol. After controlling for potential confounders including population distributions for race, income, employment and education, we examined whether beer sales were independently associated with premature mortality rates due to homicides, unintentional injuries, other acute alcohol-related causes, liver diseases, cardiovascular disease and other chronic alcohol-related causes. After controlling for race and socioeconomic status, municipalities with greater beer consumption had higher premature mortality, with the model explaining up to 24% of all premature deaths. Beer consumption was also independently associated with homicide, liver diseases and cardiovascular disease. Neither unintentional injuries nor other chronic alcohol-related causes of mortality were significantly associated with beer consumption. The population-level association between beer consumption and mortality may reflect population-level determinants of beer consumption as well as indirect health effects of alcohol consumption on persons who are not heavy drinkers.

  8. Risk Factors for premature birth in a hospital

    Directory of Open Access Journals (Sweden)

    Margarita E. Ahumada-Barrios

    Full Text Available Abstract Objective: to determine the risk factors for premature birth. Methods: retrospective case-control study of 600 pregnant women assisted in a hospital, with 298 pregnant women in the case group (who gave birth prematurely <37 weeks and 302 pregnant women who gave birth to a full-term newborn in the control group. Stata software version 12.2 was used. The Chi-square test was used in bivariate analysis and logistic regression was used in multivariate analysis, from which Odds Ratios (OR and Confidence Intervals (CI of 95% were derived. Results: risk factors associated with premature birth were current twin pregnancy (adjusted OR= 2.4; p= 0.02, inadequate prenatal care (< 6 controls (adjusted OR= 3.2; p <0.001, absent prenatal care (adjusted OR= 3.0; p <0.001, history of premature birth (adjusted OR= 3.7; p <0.001 and preeclampsia (adjusted OR= 1.9; p= 0.005. Conclusion: history of premature birth, preeclampsia, not receiving prenatal care and receiving inadequate prenatal care were risk factors for premature birth.

  9. Adverse respiratory outcome after premature rupture of membranes before viability.

    Science.gov (United States)

    Verspyck, Eric; Bisson, Violene; Roman, Horace; Marret, Stéphane

    2014-03-01

    To determine whether preterm premature rupture of membranes (PPROM) before 24 weeks is an independent risk factor for poor outcome in preterm neonates. A retrospective comparative cohort study was conducted, including viable premature infants born between 25 and 34-weeks gestation. Each preterm case with early PPROM was matched with two preterm controls of the same gestational age at birth, sex and birth date and who were born spontaneously with intact membranes. Logistic regression was performed to identify independent risk factors associated with composite respiratory and perinatal adverse outcomes for the overall population of preterm infants. Thirty-five PPROM cases were matched with 70 controls. Extreme prematurity (26-28 weeks) was an independent risk factor for composite perinatal adverse outcomes [odds ratio (OR) 43.9; p = 0.001]. Extreme prematurity (OR 42.9; p = 0.001), PPROM (OR 7.1; p = 0.01), male infant (OR 5.2; p = 0.02) and intrauterine growth restriction (IUGR, OR 4.8; p = 0.04) were factors for composite respiratory adverse outcomes. Preterm premature rupture of membranes before viability represents an independent risk factor for composite respiratory adverse outcomes in preterm neonates. Extreme prematurity may represent the main risk factor for both composite respiratory and perinatal adverse outcomes. ©2013 Foundation Acta Paediatrica. Published by John Wiley & Sons Ltd.

  10. Hubungan Frekuensi Kunjungan Antenatal Care (ANC dengan Kejadian Prematur

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    Evi Esti Utami

    2016-03-01

    Full Text Available The cause of infant mortality is mostly due to perinatal matters. Almost 2-27% of all perinatal death is caused by prematurity with low birth weight (BBLR. Reducing mortality rate on perinatal can be achieved by observing all pregnant women and fi nding as well as addressing infl uenced factors of neonatal safety. This research aims to identify correlation between frequencies of Antenatal Care (ANC with incidence of prematurity. This is an observational study with case-control design using retrospective approach. Total population was 1335 and of 156 was choosen as research respondents deviding into 78 as case respondents and 78 as control groups. The result of statistic analysis showed that p value=0,837 (p>0,05 means frequencies of ANC did not have correlation with prematurity. Conclusion, (1 during the period of 1 January 2011 and 29 February 2012, it found 207 (8,13% premature baby delivered, (2 at about 80,8% mother who delivered premature baby had normal ANC 4 times or more with the pattern 1-1-2 in every semester, (3 statistically ANC was not having correlation with premature baby.

  11. Altered Amygdala Development and Fear Processing in Prematurely Born Infants.

    Science.gov (United States)

    Cismaru, Anca Liliana; Gui, Laura; Vasung, Lana; Lejeune, Fleur; Barisnikov, Koviljka; Truttmann, Anita; Borradori Tolsa, Cristina; Hüppi, Petra S

    2016-01-01

    Prematurely born children have a high risk of developmental and behavioral disabilities. Cerebral abnormalities at term age have been clearly linked with later behavior alterations, but existing studies did not focus on the amygdala. Moreover, studies of early amygdala development after premature birth in humans are scarce. To compare amygdala volumes in very preterm infants at term equivalent age (TEA) and term born infants, and to relate premature infants' amygdala volumes with their performance on the Laboratory Temperament Assessment Battery (Lab-TAB) fear episode at 12 months. Eighty one infants born between 2008 and 2014 at the University Hospitals of Geneva and Lausanne, taking part in longitudinal and functional imaging studies, who had undergone a magnetic resonance imaging (MRI) scan at TEA enabling manual amygdala delineation. Amygdala volumes assessed by manual segmentation of MRI scans; volumes of cortical and subcortical gray matter, white matter and cerebrospinal fluid (CSF) automatically segmented in 66 infants; scores for the Lab-TAB fear episode for 42 premature infants at 12 months. Amygdala volumes were smaller in preterm infants at TEA than term infants (mean difference 138.03 mm(3), p motor activity in the fear episode. Our results indicate that premature birth is associated with a reduction in amygdala volumes and white matter volumes at TEA, suggesting that altered amygdala development might be linked to alterations in white matter connectivity reported in premature infants. Moreover, our data suggests that such alterations might affect infants' fear-processing capabilities.

  12. Risk Factors for premature birth in a hospital 1

    Science.gov (United States)

    Ahumada-Barrios, Margarita E.; Alvarado, German F.

    2016-01-01

    Abstract Objective: to determine the risk factors for premature birth. Methods: retrospective case-control study of 600 pregnant women assisted in a hospital, with 298 pregnant women in the case group (who gave birth prematurely <37 weeks) and 302 pregnant women who gave birth to a full-term newborn in the control group. Stata software version 12.2 was used. The Chi-square test was used in bivariate analysis and logistic regression was used in multivariate analysis, from which Odds Ratios (OR) and Confidence Intervals (CI) of 95% were derived. Results: risk factors associated with premature birth were current twin pregnancy (adjusted OR= 2.4; p= 0.02), inadequate prenatal care (< 6 controls) (adjusted OR= 3.2; p <0.001), absent prenatal care (adjusted OR= 3.0; p <0.001), history of premature birth (adjusted OR= 3.7; p <0.001) and preeclampsia (adjusted OR= 1.9; p= 0.005). Conclusion: history of premature birth, preeclampsia, not receiving prenatal care and receiving inadequate prenatal care were risk factors for premature birth. PMID:27463110

  13. Histological evidence of oxidative stress and premature senescence in preterm premature rupture of the human fetal membranes recapitulated in vitro

    National Research Council Canada - National Science Library

    Menon, Ramkumar; Boldogh, Istvan; Hawkins, Hal K; Woodson, Michael; Polettini, Jossimara; Syed, Tariq Ali; Fortunato, Stephen J; Saade, George R; Papaconstantinou, John; Taylor, Robert N

    2014-01-01

    Preterm prelabor rupture of the membranes (pPROM) may lead to preterm births (PTBs). We investigated premature senescence of fetal membranes in women with pPROM and spontaneous PTB with intact membranes...

  14. Brain vascular changes in Cockayne syndrome.

    Science.gov (United States)

    Hayashi, Masaharu; Miwa-Saito, Naho; Tanuma, Naoyuki; Kubota, Masaya

    2012-04-01

    Cockayne syndrome (CS) and xeroderma pigmentosum (XP) are caused by deficient nucleotide excision repair. CS is characterized by cachectic dwarfism, mental disability, microcephaly and progeria features. Neuropathological examination of CS patients reveals dysmyelination and basal ganglia calcification. In addition, arteriosclerosis in the brain and subdural hemorrhage have been reported in a few CS cases. Herein, we performed elastica van Gieson (EVG) staining and immunohistochemistry for collagen type IV, CD34 and aquaporin 4 to evaluate the brain vessels in autopsy cases of CS, XP group A (XP-A) and controls. Small arteries without arteriosclerosis in the subarachnoid space had increased in CS cases but not in either XP-A cases or controls. In addition, string vessels (twisted capillaries) in the cerebral white matter and increased density of CD34-immunoreactive vessels were observed in CS cases. Immunohistochemistry findings for aquaporin 4 indicated no pathological changes in either CS or XP-A cases. Hence, the increased subarachnoid artery space may have caused subdural hemorrhage. Since such vascular changes were not observed in XP-A cases, the increased density of vessels in CS cases was not caused by brain atrophy. Hence, brain vascular changes may be involved in neurological disturbances in CS. © 2011 Japanese Society of Neuropathology.

  15. Association of Maternal Preeclampsia With Infant Risk of Premature Birth and Retinopathy of Prematurity.

    Science.gov (United States)

    Shulman, Julia P; Weng, Cindy; Wilkes, Jacob; Greene, Tom; Hartnett, M Elizabeth

    2017-09-01

    Studies report conflicting associations between preeclampsia and retinopathy of prematurity (ROP). This study provides explanations for the discrepancies to clarify the relationship between preeclampsia and ROP. To evaluate the association of maternal preeclampsia and risk of ROP among infants in an unrestricted birth cohort and a restricted subcohort of preterm, very low birth weight (P-VLBW) infants. A retrospective review of 290 992 live births within the Intermountain Healthcare System in Utah from January 1, 2001, through December 31, 2010, was performed. Generalized estimating equations for logistic regressions with covariate adjustment were applied to relate ROP to preeclampsia among the full cohort and in a subcohort of P-VLBW infants born at younger than 31 weeks' gestation and weighing less than 1500 g. The occurrence of ROP was related to maternal preeclampsia in the full cohort and in a subcohort of P-VLBW infants. In the full cohort, 51% of the infants were male and the mean (SD) gestational age was 38.38 (1.87) weeks. In the P-VLBW cohort, 55% were male and the mean (SD) gestational age was 26.87 (2.40) weeks. In the full cohort, preeclampsia was associated with an increased risk of all ROP (adjusted odds ratio [aOR], 2.46; 95% CI, 2.17-2.79; P preeclampsia was inversely associated with the development of all ROP (aOR, 0.79; 95% CI, 0.68-0.92; P = .003), severe ROP (aOR, 0.62; 95% CI, 0.36-1.06; P = .08), and infant death (aOR, 0.19; 95% CI, 0.11-0.32; P Preeclampsia was associated with an increased risk of developing ROP among an unrestricted cohort but with a reduced risk of ROP among a restricted subcohort of P-VLBW infants. Although the conflicting associations in the full and P-VLBW cohorts may reflect true differences, the association of a reduced risk of ROP among the P-VLBW subcohort also may reflect biases from restricting the cohort to prematurity, because prematurity is an outcome of preeclampsia.

  16. Antiphospholipid syndrome.

    Science.gov (United States)

    Schreiber, Karen; Sciascia, Savino; de Groot, Philip G; Devreese, Katrien; Jacobsen, Soren; Ruiz-Irastorza, Guillermo; Salmon, Jane E; Shoenfeld, Yehuda; Shovman, Ora; Hunt, Beverley J

    2018-01-11

    Antiphospholipid syndrome (APS) is an autoimmune disease characterized by the presence of antiphospholipid antibodies, such as lupus anticoagulant, anticardiolipin antibodies and anti-β2-glycoprotein 1 antibodies. APS can present with a variety of clinical phenotypes, including thrombosis in the veins, arteries and microvasculature as well as obstetrical complications. The pathophysiological hallmark is thrombosis, but other factors such as complement activation might be important. Prevention of thrombotic manifestations associated with APS includes lifestyle changes and, in individuals at high risk, low-dose aspirin. Prevention and treatment of thrombotic events are dependent mainly on the use of vitamin K antagonists. Immunosuppression and anticomplement therapy have been used anecdotally but have not been adequately tested. Pregnancy morbidity includes unexplained recurrent early miscarriage, fetal death and late obstetrical manifestation such as pre-eclampsia, premature birth or fetal growth restriction associated with placental insufficiency. Current treatment to prevent obstetrical morbidity is based on low-dose aspirin and/or low-molecular-weight heparin and has improved pregnancy outcomes to achieve successful live birth in >70% of pregnancies. Although hydroxychloroquine and pravastatin might further improve pregnancy outcomes, prospective clinical trials are required to confirm these findings.

  17. Long-term impact of overweight and obesity in childhood and adolescence on morbidity and premature mortality in adulthood: systematic review.

    Science.gov (United States)

    Reilly, J J; Kelly, J

    2011-07-01

    The last systematic review on the health consequences of child and adolescent obesity found little evidence on consequences for adult health. The present study aimed to summarize evidence on the long-term impact of child and adolescent obesity for premature mortality and physical morbidity in adulthood. Systematic review with evidence searched from January 2002 to June 2010. Studies were included if they contained a measure of overweight and/or obesity between birth and 18 years (exposure measure) and premature mortality and physical morbidity (outcome) in adulthood. Five eligible studies examined associations between overweight and/or obesity, and premature mortality: 4/5 found significantly increased risk of premature mortality with child and adolescent overweight or obesity. All 11 studies with cardiometabolic morbidity as outcomes reported that overweight and obesity were associated with significantly increased risk of later cardiometabolic morbidity (diabetes, hypertension, ischaemic heart disease, and stroke) in adult life, with hazard ratios ranging from 1.1-5.1. Nine studies examined associations of child or adolescent overweight and obesity with other adult morbidity: studies of cancer morbidity were inconsistent; child and adolescent overweight and obesity were associated with significantly increased risk of later disability pension, asthma, and polycystic ovary syndrome symptoms. A relatively large and fairly consistent body of evidence now demonstrates that overweight and obesity in childhood and adolescence have adverse consequences on premature mortality and physical morbidity in adulthood.

  18. Major determinants of survival and length of stay in the neonatal intensive care unit of newborns from women with premature preterm rupture of membranes.

    Science.gov (United States)

    Kurek Eken, Meryem; Tüten, Abdülhamit; Özkaya, Enis; Karatekin, Güner; Karateke, Ateş

    2017-08-01

    To assess the predictors of outcome in terms of length of stay in the neonatal intensive care unit (NICU) and survival of neonates from women with preterm premature rupture of membranes (PPROM). A population-based retrospective study including 331 singleton pregnant women with PPROM at 24-34 gestational weeks between January 2013 and December 2015 was conducted. Gestational age at delivery, birth weight, route of delivery, newborn gender, maternal age, oligohydramnios, premature retinopathy (ROP), necrotising enterocolitis (NEC), sepsis, fetal growth retardation (FGR), intracranial hemorrhagia (ICH), bronchopulmonary dysplasia (BPD), respiratory distress syndrome (RDS), primary pulmonary hypertension (PPH), congenital cardiac disease (CCD), patent ductus arteriosus (PDA), use of cortisol (betamethasone) and maternal complications including gestational diabetes, preeclampsia and chorioamnionitis were used to predict neonatal outcomes in terms of length of stay in the NICU and survival. In linear regression analyses, birth weight, ROP, CCD, BPD, PDA, NEC and preeclampsia were significant confounders for length of stay in the NICU. Among them, birth weight was the most powerful confounder for prolongation of the NICU stay (t: -6.43; p Prematurity-related complications are the most important problems for which precautions should be taken. Therefore, premature deliveries should be avoided to prevent infection and to prolong the latent period in cases of PPROM in order to decrease prematurity-related outcomes.

  19. Bone fragility and decline in stem cells in prematurely aging DNA repair deficient trichothiodystrophy mice.

    Science.gov (United States)

    Diderich, Karin E M; Nicolaije, Claudia; Priemel, Matthias; Waarsing, Jan H; Day, Judd S; Brandt, Renata M C; Schilling, Arndt F; Botter, Sander M; Weinans, Harrie; van der Horst, Gijsbertus T J; Hoeijmakers, Jan H J; van Leeuwen, Johannes P T M

    2012-08-01

    Trichothiodystrophy (TTD) is a rare, autosomal recessive nucleotide excision repair (NER) disorder caused by mutations in components of the dual functional NER/basal transcription factor TFIIH. TTD mice, carrying a patient-based point mutation in the Xpd gene, strikingly resemble many features of the human syndrome and exhibit signs of premature aging. To examine to which extent TTD mice resemble the normal process of aging, we thoroughly investigated the bone phenotype. Here, we show that female TTD mice exhibit accelerated bone aging from 39 weeks onwards as well as lack of periosteal apposition leading to reduced bone strength. Before 39 weeks have passed, bones of wild-type and TTD mice are identical excluding a developmental defect. Albeit that bone formation is decreased, osteoblasts in TTD mice retain bone-forming capacity as in vivo PTH treatment leads to increased cortical thickness. In vitro bone marrow cell cultures showed that TTD osteoprogenitors retain the capacity to differentiate into osteoblasts. However, after 13 weeks of age TTD females show decreased bone nodule formation. No increase in bone resorption or the number of osteoclasts was detected. In conclusion, TTD mice show premature bone aging, which is preceded by a decrease in mesenchymal stem cells/osteoprogenitors and a change in systemic factors, identifying DNA damage and repair as key determinants for bone fragility by influencing osteogenesis and bone metabolism.

  20. Birth weight and gestational age on retinopathy of prematurity in discordant twins in China

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    Zong-Hua Wang

    2014-08-01

    Full Text Available AIM:To assess the relative effect of birth weight and gestational age on retinopathy of prematurity (ROP using preterm twin pairs discordant for birth weigh in a tertiary neonatal intensive care unit in China.METHODS: Fifty-six discordant twin pairs of 112 preterm infants were retrospectively analyzed. The twin pairs were divided into two subgroups based on birth weight in each pair. The occurrence of ROP and severe ROP requiring treatment were compared between the lower birth weight infants and their co-twins with the higher birth weight. Some neonatal morbidities related to prematurity and neonatal characteristics were also compared between the twin pairs.RESULTS: Based on the univariate analysis, gestational age and birth weight were significantly associated with the occurrence and progression of ROP. But no significant differences in ROP between larger and smaller infants were observed in the twin-paired analysis. The incidence of neonatal morbidities regarding respiratory distress syndrome (RDS, patent ductus arteriosus (PDA, intraventricular hemorrhage (IVH, sepsis and neonatal characteristics regarding gender distribution, one- and five-minute Apgar score, postnatal steroid treatment, blood transfusion, supplemental oxygen therapy, and mechanical ventilation were not different between the twins. However, gestational age of ≤28wk was significantly associated with significantly higher rates of ROP and severe ROP.CONCLUSION: Gestational age is a better predictor of ROP than birth weight in the twin-paired study.

  1. GAPO syndrome with pansutural craniosynostosis leading to intracranial hypertension.

    Science.gov (United States)

    Goyal, Nishant; Gurjar, Hitesh; Sharma, Bhawani Shankar; Tripathi, Manjari; Chandra, P Sarat

    2014-01-28

    GAPO syndrome stands for growth retardation (G), alopecia (A), pseudoanodontia (P) and optic atrophy (O). To date, only about 35 cases of this extremely rare syndrome have been reported. Craniosynostosis/craniostenosis is a condition with an abnormal head shape due to premature fusion of the calvarial sutures and can be either non-syndromic or syndromic. Overall, craniosynostosis has an incidence of about 1 in 2500 live-births. We present a patient with GAPO syndrome in association with craniosynostosis along with intracranial hypertension, which was the cause of her headache. To the best of our knowledge, this is the first such association in the literature.

  2. Retinopathy of prematurity: results from 10 years in a single neonatal intensive care unit

    Directory of Open Access Journals (Sweden)

    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.

  3. Cerebellum of the Premature Infant: Rapidly Developing, Vulnerable, Clinically Important

    Science.gov (United States)

    Volpe, Joseph J.

    2009-01-01

    Brain abnormality in surviving premature infants is associated with an enormous amount of neurodevelopmental disability, manifested principally by cognitive, behavioral, attentional, and socialization deficits, most commonly with only relatively modest motor deficits. The most recognized contributing neuropathology is cerebral white matter injury. The thesis of this review is that acquired cerebellar abnormality is a relatively less recognized but likely important cause of neurodevelopmental disability in small premature infants. The cerebellar disease may be primarily destructive (eg, hemorrhage, infarction) or primarily underdevelopment. The latter appears to be especially common and relates to a particular vulnerability of the cerebellum of the small premature infant. Central to this vulnerability are the extraordinarily rapid and complex developmental events occurring in the cerebellum. The disturbance of development can be caused either by direct adverse effects on the cerebellum, especially the distinctive transient external granular layer, or by indirect remote trans-synaptic effects. This review describes the fascinating details of cerebellar development, with an emphasis on events in the premature period, the major types of cerebellar abnormality acquired during the premature period, their likely mechanisms of occurrence, and new insights into the relation of cerebellar disease in early life to subsequent cognitive/behavioral/attentional/socialization deficits. PMID:19745085

  4. Social representations of mothers about gestational hypertension and premature birth.

    Science.gov (United States)

    de Souza, Nilba Lima; de Araújo, Ana Cristina Pinheiro Fernandes; Costa, Iris do Ceu Clara

    2013-01-01

    To identify the meanings attributed by mothers to hypertensive disorders of pregnancy (HDPs) and their consequences, such as premature birth and hospitalization of the infant in the neonatal intensive care unit (NICU). A qualitative study, based on the Central Nucleus Theory, with 70 women who had hypertensive disorders of pregnancy and preterm delivery. We used the technique of free word association (FWAT) with three stimuli: high blood pressure during pregnancy, prematurity and NICU. We obtained 1007 evocations, distributed as follows: high blood pressure during pregnancy (335) prematurity (333) and NICU (339). These constituted three thematic units: representation of HDPs, prematurity and the NICU. The categories death and negative aspects were inherent to the three units analyzed, followed by coping strategies and needs for care present in HDPs and prematurity. The study had death as its central nucleus, and highlighted the subjective aspects present in the high risk pregnancy and postpartum cycle. It is hoped that this research will contribute to qualifying nursing care for women confronting the problem of HDPs, so that they can cope with less impacts from the adverse effects of high risk pregnancy and birth.

  5. Idiopathic maculopathy in eyes with regressed retinopathy of prematurity.

    Science.gov (United States)

    Lee, Kyoung Min; Kim, Jeong Hun; Yu, Young Suk

    2010-08-01

    To describe idiopathic maculopathy in eyes with regressed retinopathy of prematurity, which differs from cicatricial changes in retinopathy of prematurity. institutional. patients were former preterm infants who had undergone fundus examinations for retinopathy of prematurity between December 1993 and May 2002. Posterior polar cicatricial change was excluded. The medical records of eight eyes (four patients) with photo-documented idiopathic maculopathy were reviewed retrospectively. complete ophthalmologic examinations including best corrected visual acuity (BCVA), refractive error, funduscopic examination, fluorescein angiography (FAG), and optical coherence tomography (OCT). Maculopathy was characterized by depigmented geographic atrophy. FAG showed window defects due to atrophy of retinal pigment epithelium. OCT showed depression in the fovea with retained internal architecture. In all cases patients had retinopathy of prematurity, and all except one had been treated with laser photocoagulation. In the case without laser photocoagulation, maculopathy was observed on the first exam. In the other cases, no maculopathy was observed on the first exam, but was detected after laser photocoagulation. No patient had a family history of hereditary retinal dystrophy. In all cases, maculopathy was noted in both eyes with myopia. BCVA was variable (0.0 approximately 0.82, 0.32 +/- 0.32 logMAR). No progression was observed over the course of 8 years. Idiopathic maculopathy is a rare posterior polar change that differs from the cicatricial changes seen in retinopathy of prematurity, and is independent of prior laser photocoagulation. No progression was observed, and visual prognosis was fair.

  6. [Premature death from infectious diseases in Spain, 1908-1995].

    Science.gov (United States)

    Canelo, José Antonio Mirón; Sardón, Montserrat Alonso; Pardo, Mercedes Méndez; León, Isabel López; González, María Del Carmen Sáenz

    2002-10-01

    Infectious diseases have traditionally been one of the leading causes of death in developed countries. The objectives of this research were to: 1) quantify the importance of infectious diseases as a cause of premature mortality in Spain between 1908 and 1995, and 2) determine the frequency and distribution of the infectious diseases with the greatest impact on premature death. The study was carried out based on data on mortality from infectious causes published by the National Institute of Statistics in the Movimiento natural de la población (Natural Movement of the Population) for the study period. Three indicators of premature mortality were used: the potential years of life lost (PYLL), the crude rate of PYLL per 1 000 population, and the percentage and the average of PYLL. Between 1908 and 1995, the number and the rate of PYLL from infectious causes clearly declined. The decrease was more prominent starting in the 1950s, and it was seen in all age groups. Tuberculosis was the leading cause of premature death from the beginning of the century until the 1970s, but after that, the leading causes became pneumonia and AIDS. The impact of infectious diseases as determinants of premature death in Spain declined during the 20th century, especially starting in the 1970s.

  7. Prognosis of Full-Thickness Skin Defects in Premature Infants

    Directory of Open Access Journals (Sweden)

    Hyung Suk Moon

    2012-09-01

    Full Text Available BackgroundIn the extremities of premature infants, the skin and subcutaneous tissue are very pliable due to immaturity and have a greater degree of skin laxity and mobility. Thus, we can expect wounds to heal rapidly by wound contraction. This study investigates wound healing of full-thickness defects in premature infant extremities.MethodsThe study consisted of 13 premature infants who had a total of 14 cases of full-thickness skin defects of the extremities due to extravasation after total parenteral nutrition. The wound was managed with intensive moist dressings with antibiotic and anti-inflammatory agents. After wound closure, moisturization and mild compression were performed.ResultsMost of the full-thickness defects in the premature infants were closed by wound contraction without granulation tissue formation on the wound bed. The defects resulted in 3 pinpoint scars, 9 linear scars, and 2 round hypertrophic scars. The wounds with less granulation tissue were healed by contraction and resulted in linear scars parallel to the relaxed skin tension line. The wounds with more granulation tissue resulted in round scars. There was mild contracture without functional abnormality in 3 cases with a defect over two thirds of the longitudinal length of the dorsum of the hand or foot. The patients' parents were satisfied with the outcomes in 12 of 14 cases.ConclusionsFull-thickness skin defects in premature infants typically heal by wound contraction with minimal granulation tissue and scar formation probably due to excellent skin mobility.

  8. Mothers’ Experiences with Premature Neonates about Kangaroo Care: Qualitative Approaches

    Directory of Open Access Journals (Sweden)

    Tahere Salimi

    2014-01-01

    Full Text Available Introduction:  Premature neonates admitted in NICU besides being separated from their mothers are prone to inevitably painful and stressful situations. Kangaroo care is the most effective method to get rid of this separation and its negative consequences. This study was performed to determine the experiences of mothers having premature neonates concerning Kangaroo care.   Material and Methods: The present study is a qualitative research in which focus group discussion method is used for data collection. Research society consisted of mothers having premature neonates Research group reread and categorized the qualitative findings. Contents of interviews were analyzed using the conventional interpretation approach introduced by Dicklman Method.   Results: Through content analysis of information emerged two major categories including mothers’ experiences about advantages of kangaroo care in interaction with neonate, and, feeling of physical-mental healthiness of neonate. Executive obstacles of kangaroo care from mothers’ standpoint were also discussed, which will be subsequently presented.   Discussion: According to the obtained results, it seems vital to highlight kangaroo care as a safe and effective clinical care-taking treatment in nursery of premature neonates in all hospitals. Nurses shall provide all mothers with the needed instructions for holding the premature and lower-weight neonate properly on their chests and shall promote their knowledge level concerning positive effects of kangaroo care including induction of tranquil sleep, optimization of physiological conditions of neonate, and removal of suckling obstacles.

  9. Papillon-Lefevre syndrome: Two case reports

    Directory of Open Access Journals (Sweden)

    Shah Jigna

    2007-01-01

    Full Text Available Papillon-Lefevre syndrome is a rare autosomal recessive disorder in which there is palmoplantar keratinization and premature loss of both deciduous and permanent teeth. The palmoplantar keratoderma typically has its onset between the ages of 1 and 4 years and severe periodontitis starts at the age of 3 or 4 years. An early diagnosis of the syndrome can help preserve the teeth by early institution of treatment, using a multidisciplinary approach. We present two cases of the syndrome having all of the characteristic features.

  10. Specific features of physical development in extremely premature infants

    Directory of Open Access Journals (Sweden)

    G. A. Alyamovskaya

    2015-01-01

    Full Text Available The literature review deals with the specilic features of physical development in extremely premature infants weighing less than 1500 g at birth. It describes the regularities of an increment in basic physical development parameters (weight, height, and head circumference within the first year of life. Genetic factors, the specific features of a neonatal period, comorbidity, and different feeding types are shown to affect the increment rates of the physical development parameters. Emphasis is placed on the early initiation of enteral feeding and on the long-term use of fortified foods in low birthweight premature babies for the correction of energy deficiency resulting from preterm birth. The review shows that there is a relationship of the long-term outcomes of physical and psychomotor developments in low birthweight premature babies.

  11. Sleep deprivation, pain and prematurity: a review study

    Directory of Open Access Journals (Sweden)

    Kelly Cristina Santos de Carvalho Bonan

    2015-02-01

    Full Text Available The aim was to describe current reports in the scientific literature on sleep in the intensive care environment and sleep deprivation associated with painful experiences in premature infant. A systematic search was conducted for studies on sleep, pain, premature birth and care of the newborn. Web of Knowledge, MEDLINE, LILACS, Cochrane Library, PubMed, EMBASE, Scopus, VHL and SciELO databases were consulted. The association between sleep deprivation and pain generates effects that are observed in the brain and the behavioral and physiological activity of preterm infants. Polysomnography in intensive care units and pain management in neonates allow comparison with the first year of life and term infants. We have found few references and evidence that neonatal care programs can influence sleep development and reduce the negative impact of the environment. This evidence is discussed from the perspective of how hospital intervention can improve the development of premature infants.

  12. Prematurity as a factor of damaged child development

    Directory of Open Access Journals (Sweden)

    Chukhutova G.L.

    2015-03-01

    Full Text Available At present time prematurity is the main reason for disability in children, which can be exemplified by the fact that 2/3 of educatees of children' homes for blind and deaf are preterm children. The most drastic consequences of prematurity is cerebral palsy with spastic diplegia; blindness or poor vision as a result of retina detachment; auditory inefficiency connected with the nerve deafness, decline in general cognitive and speech development; difficulties in coordination and planning serial operations; psycho-emotional impairments like autism. The distinctive features of appearance (failure to thrive, microcephalism with deformation of the shape of the head and behavior (stereotyped movements, lack in initiative purposeful activity make these children recognizable and let us talk about naturally determined set of impairments connected with the main reason — prematurity. The article regards the influence of preterm birth on child's nervous system and it's remote effect on his/her psychic development.

  13. Ability to Keep Milk-Ejecting Activity after Premature Birth

    Directory of Open Access Journals (Sweden)

    S. G. Gribakin

    2015-01-01

    Full Text Available The article examines the modern data on the importance of breast milk in nursing premature babies. It is shown that the amount of breast milk in women, who gave birth prematurely, decreases rapidly, especially when it is impossible to get a baby latched on to the breast. There is a negative correlation between gestational age and duration of lactation. According to the opinion of both doctors and the majority of mothers, pumping out breast milk and using it in feeding a premature baby is an important psychological and physiological factor linking a mother and a child at the intensive care unit. Individual breast milk banks are a new safe and effective method for long-term keeping of breast milk.

  14. Sleep deprivation, pain and prematurity: a review study.

    Science.gov (United States)

    Bonan, Kelly Cristina Santos de Carvalho; Pimentel Filho, João da Costa; Tristão, Rosana Maria; Jesus, José Alfredo Lacerda de; Campos Junior, Dioclécio

    2015-02-01

    The aim was to describe current reports in the scientific literature on sleep in the intensive care environment and sleep deprivation associated with painful experiences in premature infant. A systematic search was conducted for studies on sleep, pain, premature birth and care of the newborn. Web of Knowledge, MEDLINE, LILACS, Cochrane Library, PubMed, EMBASE, Scopus, VHL and SciELO databases were consulted. The association between sleep deprivation and pain generates effects that are observed in the brain and the behavioral and physiological activity of preterm infants. Polysomnography in intensive care units and pain management in neonates allow comparison with the first year of life and term infants. We have found few references and evidence that neonatal care programs can influence sleep development and reduce the negative impact of the environment. This evidence is discussed from the perspective of how hospital intervention can improve the development of premature infants.

  15. Retinopathy of prematurity blindness worldwide: phenotypes in the third epidemic

    Directory of Open Access Journals (Sweden)

    Quinn GE

    2016-05-01

    Full Text Available Graham E Quinn Division of Ophthalmology, The Children’s Hospital of Philadelphia, Wood Center, Philadelphia, PA, USA Abstract: Blindness due to retinopathy of prematurity (ROP is an increasing problem worldwide as improved levels of neonatal care are provided in countries with developing neonatal intensive care units. The occurrence of ROP blindness varies dramatically with the socioeconomic development of a country. In regions with high levels of neonatal care and adequate resources, ROP blindness is largely restricted to premature infants with very low birth weight and low gestational age while in middle- and low-income countries with regional variation in technology and capacity, limited health resources may well limit the care of the premature newborn. Keywords: ROP, international, blindness

  16. Risk factors of intracranial hemorrhage in premature neonates.

    Directory of Open Access Journals (Sweden)

    Nasrin Khalessi

    2014-09-01

    Full Text Available Intraventricular hemorrhage (IVH is an important cause of brain injury in premature neonates. Current study tries to define associated risk factors of IVH in preterm neonates in Aliasghar Children Hospital during 2008 to 2011. In this study, the risk factors have been evaluated in premature neonates with IVH, who had at least one brain sonography since their admission in NICU. A total of 63 premature neonates with IVH were assessed. Mean gestational age was 29.81 (24-34 weeks and mean birth weight was 1290.83±382.96 gr. Other risk factors such as sex, mode of delivery, history of using infertility drugs, maternal disease, maternal hypertension and preeclampsia, lumbar puncture, ventilator therapy and pneumothorax were considered. Because no absolute treatment for IVH is available, identifying risk factors is important in prevention and management of IVH.

  17. Cushing syndrome

    Science.gov (United States)

    Hypercortisolism; Cortisol excess; Glucocorticoid excess - Cushing syndrome ... The most common cause of Cushing syndrome is taking too much ... called exogenous Cushing syndrome . Prednisone, dexamethasone, ...

  18. Rotavirus shedding in premature infants following first immunization.

    Science.gov (United States)

    Smith, Candice K; McNeal, Monica M; Meyer, Nicole R; Haase, Simone; Dekker, Cornelia L

    2011-10-19

    There is limited data regarding rotavirus vaccine shedding in premature infants. We describe the natural history of rotavirus shedding in premature infants in the 2-week period following first immunization with RotaTeq(®), the pentavalent rotavirus vaccine (RV5), and the risk for symptomatic transmission to household contacts (HHC). A prospective pilot study of 15 premature infants of gestational ages 26-34 weeks immunized with RV5 between 6 and 14 weeks chronological age on discharge from the NICU was conducted. Stool samples collected in the following 2 weeks and analyzed for rotavirus antigen by enzyme immunoassay (EIA), cell culture, and RT-PCR. Solicited adverse events were collected on study subjects and any symptoms of fever, vomiting and diarrhea in HHC. Rotavirus antigen shedding after immunization was detected, with positive rotavirus EIA results in 53.3% of premature infants and in 22.1% of 86 stool samples collected. Shedding rates by RT-PCR were higher with 86.7% of infants and 76.7% of samples being positive. Only 42% of EIA positive samples were positive by cell culture (8/86 total samples, 9.3%). None of 53 HHC reported symptoms of rotavirus infection during the 4 weeks following immunization of the infants. The findings of this study demonstrate that premature infants have positive stools by EIA, viral culture, and RT-PCR at varying time points during 2 weeks following first-dose immunization with RV5. RT-PCR shedding rates need to be clinically evaluated in the context of virus quantification by cell culture, which was low. No symptomatic transmission to HHC was detected in this study, supporting low transmissibility of vaccine virus shed by these infants born prematurely. Copyright © 2011 Elsevier Ltd. All rights reserved.

  19. Distortion of maximal elevator activity by unilateral premature tooth contact

    DEFF Research Database (Denmark)

    Bakke, Merete; Møller, Eigild

    1980-01-01

    In four subjects the electrical activity in the anterior and posterior temporal and masseter muscles during maximal bite was recorded bilaterally with and without premature unilateral contact. Muscle activity was measured as the average level and the peak of the mean voltage with layers of strips...... of 0.05, 0.10, 0.15 and 2.0 mm, placed between first molars either on the left or the right side, and compared with the level of activity with undistrubed occlusion. Unilateral premature contact caused a significant asymmetry of action in all muscles under study with stronger activity ipsilaterally...

  20. Premature birth as a risk factor for autism spectrum disorder.

    Science.gov (United States)

    Goldin, Rachel L; Matson, Johnny L

    2016-06-01

    Autism spectrum disorder (ASD) is common, life-long in nature, and can be very debilitating. Thus, an intensive search is on to identify the potential risk factors for the disorder. Premature birth has been identified as one potential factor that could influence potential symptoms of ASD. The sample for this study consisted of 1655 at risk children for developmental delays who were 17-37 months of age. Participants were divided into those diagnosed with ASD (n = 916) and children with atypical development only (n = 739). Premature births were almost twice as common for the atypical development group versus the ASD group. Implications of these data are discussed.

  1. Research progress on risk factors of retinopathy of prematurity

    Directory of Open Access Journals (Sweden)

    Yu Li

    2017-07-01

    Full Text Available Retinopathy of Prematurity is a retinal vascular proliferative disease. With the improvement of the medical care in China, retinopathy of prematurity(ROPhas become one of the main causes of child hood blindness in recent years. Several factors such as short gestational age, low birth weight and oxygen supplementation are the three major risk factors for the disease, however, the pathogenesis is still not clear. This review here aims to expand the etiology and pathogenesis of ROP and provide a theoretical basis for the prevention and control of the disease.

  2. Questions never asked. Positive family outcomes of extremely premature childbirth

    DEFF Research Database (Denmark)

    Lou, Hanne; Pedersen, Birthe D; Hedegaard, Morten

    2009-01-01

    OBJECTIVE: To explore positive aspects of family life after extremely premature childbirth, thereby supplementing current literature on long-term family outcome. DESIGN: Semi-structured, qualitative research interviews were analysed according to the editing strategy described by Miller and Crabtree...... of their children's trajectories were also characterised by a perception of improvement and progress. Likewise, all parents reported much love and joy from child rearing. CONCLUSIONS: The value of these results may lie in the perspective they add to the interpretation of current research, the inspiration they may...... lend to future research on family outcome, as well as the balance they may offer in the information provided to parents of premature children....

  3. The Epidemiology and Diagnosis of Invasive Candidiasis Among Premature Infants

    Science.gov (United States)

    Kelly, Matthew S.; Benjamin, Daniel K.; Smith, P. Brian

    2015-01-01

    Invasive candidiasis is a leading infectious cause of morbidity and mortality in premature infants. Improved recognition of modifiable risk factors and antifungal prophylaxis have contributed to the recent decline in the incidence of this infection among infants. Invasive candidiasis typically occurs in the first six weeks of life and presents with non-specific signs of sepsis. Definitive diagnosis relies on growth of Candida in blood culture or cultures from other normally sterile sites, but this may identify fewer than half of cases. Improved diagnostics are needed to guide initiation of antifungal therapy in premature infants. PMID:25677999

  4. Retinopathy of prematurity and risk factors: a prospective cohort study

    Directory of Open Access Journals (Sweden)

    Angell Linda

    2005-06-01

    Full Text Available Abstract Background Increased survival of extremely low birth infants due to advances in antenatal and neonatal care has resulted in a population of infants at high risk of developing retinopathy of prematurity (ROP. Therapeutic interventions include the use of antenatal and postnatal steroids however, their effects on the severity of ROP is in dispute. In addition, it has not been investigated whether severe ROP is due to therapeutic interventions or due to the severity of illness. The aim of the present study was to assess the association between the incidence of severe retinopathy of prematurity (greater than stage 2 – International classification of ROP and mechanical ventilation, oxygen therapy, gestational age, antenatal and postnatal steroids in extremely low birth weight infants. Methods Neonates admitted to the neonatal intensive care unit in Lansing, Michigan, during 1993–2000 were followed to determine factors influencing the development of severe retinopathy of prematurity. Ophthalmologic examinations were started at 6 weeks and followed until resolution. We used logistic regression to estimate the relative risk (odds ratio associated with risk factors of ROP. Results Of the neonates with ≤ 1500 g birth weight, admitted to the neonatal intensive care unit, 85% (616/725 survived. Severe retinopathy of prematurity was detected in 7.8% of 576 neonates who had eye examinations. Neonates of lower gestational age (≤ 25 weeks and 26–28 weeks had an increased odds ratio of 8.49 and 3.19 for the development of severe retinopathy of prematurity, respectively, compared to those 29 weeks and older. Late postnatal steroid treatment starting after 3 weeks of life showed 2.9-fold increased odds ratio, in particular administration for two weeks and more (OR: 4.09, 95% CI: 1.52–11.03. With increasing antenatal steroids courses the risk of severe retinopathy of prematurity decreased, however, it was not significant. Lower gestational age

  5. Modification by KCNE1 variants of the hERG potassium channel response to premature stimulation and to pharmacological inhibition.

    Science.gov (United States)

    Du, Chunyun; El Harchi, Aziza; Zhang, Henggui; Hancox, Jules C

    2013-11-01

    human Ether-à-go-go-Related Gene (hERG) encodes the pore-forming subunit of cardiac rapid delayed rectifier K(+) current (I Kr) channels, which play important roles in ventricular repolarization, in protecting the myocardium from unwanted premature stimuli, and in drug-induced Long QT Syndrome (LQTS). KCNE1, a small transmembrane protein, can coassemble with hERG. However, it is not known how KCNE1 variants influence the channel's response to premature stimuli or if they influence the sensitivity of hERG to pharmacological inhibition. Accordingly, whole-cell patch-clamp measurements of hERG current (I hERG) were made at 37°C from hERG channels coexpressed with either wild-type (WT) KCNE1 or with one of three KCNE1 variants (A8V, D76N, and D85N). Under both conventional voltage clamp and ventricular action potential (AP) clamp, the amplitude of I hERG was smaller for A8V, D76N, and D85N KCNE1 + hERG than for WT KCNE1 + hERG. Using paired AP commands, with the second AP waveform applied at varying time intervals following the first to mimic premature ventricular excitation, the response of I hERG carried by each KCNE1 variant was reduced compared to that with WT KCNE1 + hERG. The I hERG blocking potency of the antiarrhythmic drug quinidine was similar between WT KCNE1 and the three KCNE1 variants. However, the I hERG inhibitory potency of the antibiotic clarithromycin and of the prokinetic drug cisapride was altered by KCNE1 variants. These results demonstrate that naturally occurring KCNE1 variants can reduce the response of hERG channels to premature excitation and also alter the sensitivity of hERG channels to inhibition by some drugs linked to acquired LQTS.

  6. Duane Syndrome

    Science.gov (United States)

    ... Frequently Asked Questions Español Condiciones Chinese Conditions Duane Syndrome En Español Read in Chinese What is Duane Syndrome? Duane syndrome, also called Duane retraction syndrome (DRS), ...

  7. Fanconi syndrome

    Science.gov (United States)

    De Toni-Fanconi syndrome ... Fanconi syndrome can be caused by faulty genes, or it may result later in life due to kidney damage. Sometimes the cause of Fanconi syndrome is unknown. Common causes of Fanconi syndrome in ...

  8. Interleukin-17A gene haplotypes are associated with risk of premature coronary artery disease in Mexican patients from the Genetics of Atherosclerotic Disease (GEA study.

    Directory of Open Access Journals (Sweden)

    Gilberto Vargas-Alarcón

    Full Text Available AIM: The role of interleukin 17A (IL-17A in the inflammatory process has caused interest in the potential significance of IL-17A as a biomarker for coronary artery disease (CAD. The aim of the present study was to evaluate the role of IL-17A gene polymorphisms as susceptibility markers for CAD in the Mexican population. METHODS: Four IL-17A gene polymorphisms (rs8193036, rs3819024, rs2275913 and rs8193037 were genotyped by 5' exonuclease TaqMan assays in a group of 900 patients with premature CAD and 667 healthy controls (with negative calcium score by computed tomography, seeking associations with CAD and other metabolic and cardiovascular risk factors using logistic regression analyses. RESULTS: No single IL-17A polymorphism was associated with premature CAD, however two haplotypes (CAGG and TAGA were significantly associated with increased risk of premature CAD (OR = 1.35, 95% CI: 1.00-1.84, P = 0.018 and OR = 2.09, 95% CI: 1.16-3.76, P = 0.003, respectively. Moreover, rs3819024 was associated with increased levels of visceral abdominal fat (P = 0.002 and rs8193036 was significantly associated with risk of central obesity (P = 0.020, hypertriglyceridemia (P = 0.027, and metabolic syndrome (P = 0.027 in the premature CAD group, under dominant models adjusted by age, gender, BMI, smoking history, alcohol consumption, and treatment. CONCLUSION: The results suggest that IL-17A haplotypes are involved in the risk of developing premature CAD and some IL-17A polymorphisms are associated with cardiovascular risk factors in Mexican individuals with premature CAD.

  9. Cockayne Syndrome group B protein stimulates NEIL2 DNA glycosylase activity

    DEFF Research Database (Denmark)

    Aamann, Maria Diget; Hvitby, Christina Poulsen; Popuri, Venkateswarlu

    2014-01-01

    Cockayne Syndrome is a segmental premature aging syndrome, which can be caused by loss of function of the CSB protein. CSB is essential for genome maintenance and has numerous interaction partners with established roles in different DNA repair pathways including transcription coupled nucleotide...

  10. 'Dhat' syndrome--a useful clinical entity.

    Science.gov (United States)

    Bhatia, M S; Bohra, N; Malik, S C

    1989-06-01

    48 consecutive male patients of potency disorders were examined and classified as 'Dhat' syndrome, impotence or premature ejaculation. The age range of these cases was found as 20-38 years (mean 23.5 +/- 3.3 years) while age of onset was 16-24 years (mean 20.6 +/- 4.5 years). Majority of cases were unmarried (54.2%) and educated 5th class or above (79.1%). 31 cases (64.6%) had Dhat syndrome with or without impotency and/or premature ejaculation while 7 cases (14.6%) had only premature ejaculation and 10 cases (20.8%) only impotence. The cases with 'Dhat' syndrome or with impotence scored maximally on neuroticism and depression scales. Neurotic depression was the commonest associated psychiatric illness (39.5%) followed by anxiety neurosis (20.8%) while 31.3% did not have any possible diagnosis. The common presenting symptoms of 'Dhat' syndrome include weakness (70.8%), fatigue (68.7%), palpitations (68.7%), sleeplessness (62.4%) etc. Among the four groups on the basis of type of treatment (antianxiety drug, antidepressant, placebo, psychotherapy), the best response was seen in those receiving antianxiety or antidepressant drugs while those receiving psychotherapy showed minimal response. 7 cases (14.6%) dropped out of treatment and the maximum dropout (40.6%) was seen in psychotherapy group.

  11. Premature rupture of membranes at term: immediate induction of ...

    African Journals Online (AJOL)

    Objective: To compare the maternal outcomes of immediate induction of labor with expectant management in women presenting with premature rupture of membranes (PROM) at term. Methods: One hundred and fifty two women with PROM at term were randomized into either immediate induction of labor with oxytocin or ...

  12. Economic Evaluation of Caffeine for Apnea of Prematurity

    NARCIS (Netherlands)

    Dukhovny, Dmitry; Lorch, Scott A.; Schmidt, Barbara; Doyle, Lex W.; Kok, Joke H.; Roberts, Robin S.; Kamholz, Karen L.; Wang, Na; Mao, Wenyang; Zupancic, John A. F.; van Wassenaer, Aleid G.

    2011-01-01

    OBJECTIVE: To determine the cost-effectiveness of treatment with caffeine compared with placebo for apnea of prematurity in infants with birth weights less than 1250 g, from birth through 18 to 21 months' corrected age. METHODS: We undertook a retrospective economic evaluation of the cost per

  13. On the premature convergence of particle swarm optimization

    DEFF Research Database (Denmark)

    Larsen, Rie B.; Jouffroy, Jerome; Lassen, Benny

    2016-01-01

    This paper discusses convergence issues of the basic particle swarm optimization algorithm for different pa- rameters. For the one-dimensional case, it is shown that, for a specific range of parameters, the particles will converge prematurely, i.e. away from the actual minimum of the objective...

  14. Telemedicine for Retinopathy of Prematurity Diagnosis: Evaluation and Challenges

    OpenAIRE

    Richter, Grace M.; Williams, Steven L.; Starren, Justin; Flynn, John T.; Chiang, Michael F.

    2009-01-01

    Retinopathy of prematurity (ROP) is a vasoproliferative disorder affecting low birth weight infants. Although timely diagnosis and treatment can significantly reduce the risk of severe complications, ROP remains a leading cause of childhood blindness worldwide. Limitations of current disease management strategies include extensive travel and logistical coordination requirements for ophthalmologists and neonatologists, decreasing availability of adequately-trained ophthalmologists at the point...

  15. Resting-state functional connectivity differences in premature children

    Directory of Open Access Journals (Sweden)

    Eswar Damaraju

    2010-06-01

    Full Text Available We examine the coherence in the spontaneous brain activity of sleeping children as measured by the blood oxygenation level dependent (BOLD functional magnetic resonance imaging (fMRI signals. The results are described in terms of resting-state networks (RSN and their properties. More specifically, in this study we examine the effect of severe prematurity on the spatial location of the visual, temporal, motor, basal ganglia, and the default mode networks, the temporal response properties of each of these networks, and the functional connectivity between them. Our results suggest that the anatomical locations of the RSNs are well developed by 18 months of age and their spatial locations are not distinguishable between premature and term born infants at 18 months or at 36 months, with the exception of small spatial differences noted in the basal ganglia area and the visual cortex. The two major differences between term and preterm children were present at 36 but not 18 months and include: 1 increased spectral energy in the low frequency range (0.01 – 0.06 Hz for pre-term children in the basal ganglia component, and 2 stronger connectivity between RSNs in term children. We speculate that children born very prematurely are vulnerable to injury resulting in weaker connectivity between resting state networks by 36 months of age. Further work is required to determine whether this could be a clinically useful tool to identify children at risk of developmental delay related to premature birth.

  16. Premature: growth and its relation to oral skills.

    Science.gov (United States)

    Vargas, Camila Lehnhart; Berwig, Luana Cristina; Steidl, Eduardo Matias dos Santos; Prade, Leila Sauer; Bolzan, Geovana; Keske-Soares, Márcia; Weinmann, Angela Regina Maciel

    2015-01-01

    To evaluate the influence of oral motor skills of premature infants on their oral feeding performance and growth, during neonatal hospitalization. Fifty-one newborns hospitalized in the neonatal intensive care unit of a hospital in Southern Brazil, between July 2012 and March 2013, were evaluated. The evaluation of oral feeding skills, according to Lau and Smith, was applied after prescription for starting oral feeding. The oral feeding performance was analyzed using the following variables: days taken to start independent oral feeding and hospital discharge. Growth was measured by weight, length, and head circumference, using the curves of Fenton, at birth, first and independent oral feeding, and hospital discharge. At birth, 71% preterm infants were proper for gestational age, most of them were males (53%), with average of 33.6 (±1.5) weeks of gestational age. The gestational age in the assessment did not influence the oral feeding performance of the premature infant and did not differ between levels. Time of transition from tube feeding to oral feeding and hospital stay was shorter when the oral skills were higher. At birth, there was a tendency of low weight and low oral feeding performance. Level IV premature infants in the release of oral feeding presented higher weights. The level of oral skills of the premature infant interfered positively on time of feeding transition from tube to independent oral feeding and hospital stay. Growth, represented by weight gain, was not affected by the level of oral skill.

  17. Focal seizure-induced premature myelination: speculation from serial MRI

    Energy Technology Data Exchange (ETDEWEB)

    Duprez, T.; Grandin, C. [Department of Medical Imaging, Universite Catholique de Louvain, Brussels (Belgium); Ghariani, S.; Gadisseux, J.F.; Evrard, P. [Department of Pediatric Neurology, Universite Catholique de Louvain, Brussels (Belgium); Smith, A.M. [MRI Laboratory, Universite Catholique de Louvain, Brussels (Belgium)

    1998-09-01

    Local changes in the white matter underlying a focus of cortical thickening were monitored using MRI in an epileptic 2-month-old boy. We hypothesise that these changes reflected seizure-induced premature myelination. (orig.) (orig.) With 2 figs., 10 refs.

  18. Intrauterine skull depression and intracranial hemorrhage in a premature infant

    Energy Technology Data Exchange (ETDEWEB)

    Batton, G.D.; DiCarmine, F.; Boal, D.K.

    1988-04-01

    The authors describe a case of a premature infant born with a parietal skull depression who suffered an intraventricular hemorrhage and an ipsilateral intracerebral injury. At 21 months of life the infant's gross motor milestones were delayed and he had moderate spastic hemiplegia. Although skull depressions at birth are usually benign, they may be associated with long-term neurologic sequelae.

  19. Om ouers van 'n premature baba in 'n neonatale ...

    African Journals Online (AJOL)

    In hierdie artikel word die outeur en sy vrou se belewenis met hulle premature baba in 'n neonatale intensiewesorgeenheid (NISE) beskryf en met resente literatuur vergelyk. Twee breë temas naamlik kwesbaarheid en sterktes, is met behulp van interpreterende fenomenologiese analise (IFA) geïdentifiseer. Kwesbaarheid ...

  20. ESHRE Guideline: management of women with premature ovarian insufficiency

    NARCIS (Netherlands)

    Webber, L.; Davies, M.; Anderson, R.; Bartlett, J.; Braat, D.; Cartwright, B.; Cifkova, R.; Muinck Keizer-Schrama, S.M.P.F. de; Hogervorst, E.; Janse, F.; Liao, L.; Vlaisavljevic, V.; Zillikens, C.; Vermeulen, N.

    2016-01-01

    STUDY QUESTION: What is the optimal management of women with premature ovarian insufficiency (POI) based on the best available evidence in the literature? SUMMARY ANSWER: The guideline development group (GDG) formulated 99 recommendations answering 31 key questions on the diagnosis and treatment of

  1. Premature Discontinuation in Adult Psychotherapy: A Meta-Analysis

    Science.gov (United States)

    Swift, Joshua K.; Greenberg, Roger P.

    2012-01-01

    Objective: Premature discontinuation from therapy is a widespread problem that impedes the delivery of otherwise effective psychological interventions. The most recent comprehensive review found an average dropout rate of 47% across 125 studies (Wierzbicki & Pekarik, 1993); however, given a number of changes in the field over the past 2 decades,…

  2. Premature discharge of children from hospital admission at Ahmadu ...

    African Journals Online (AJOL)

    Introduction: Leaving hospital care prematurely could threaten the healthy survival of and expose children to a risk of harmful alternatives. It is also a concern and a challenge to healthcare providers and the health system. A better understanding of its characteristic could help mitigate the impact on children. Objective: To ...

  3. Doxapram Treatment for Apnea of Prematurity: A Systematic Review

    NARCIS (Netherlands)

    Vliegenthart, Roseanne J. S.; ten Hove, Christine H.; Onland, Wes; van Kaam, Anton H. L. C.

    2017-01-01

    Apnea of prematurity (AOP) is a common complication of preterm birth, for which caffeine is the first treatment of choice. In case of persistent AOP, doxapram has been advocated as an additional therapy. To identify and appraise all existing evidence regarding efficacy and safety of doxapram use for

  4. [Alliance of skills to fight pain of premature babies].

    Science.gov (United States)

    Allain, Aurélie; Wehrli, Aurore; Roy, Aurélie

    Premature babies are particularly vulnerable and exposed to pain and discomfort. To improve the quality of care, an alliance of skills between nurses, children's nurses and the psychomotor therapist has been set up in a neonatal intensive care unit. Copyright © 2017 Elsevier Masson SAS. All rights reserved.

  5. Neonatal Risk Factors for Treatment-Demanding Retinopathy of Prematurity

    DEFF Research Database (Denmark)

    Slidsborg, Carina; Jensen, Aksel; Forman, Julie Lyng

    2016-01-01

    PURPOSE: One goal of the study was to identify "new" statistically independent risk factors for treatment-demanding retinopathy of prematurity (ROP). Another goal was to evaluate whether any new risk factors could explain the increase in the incidence of treatment-demanding ROP over time in Denma...

  6. Apnoea of prematurity – discontinuation of methylxanthines in a ...

    African Journals Online (AJOL)

    Background. Methylxanthines such as caffeine have been proven to reduce apnoea of prematurity and are often discontinued at 35 weeks' corrected gestational age (GA). Objective. To ascertain whether a caffeine protocol based on international guidelines is applicable in our setting, where GA is often uncertain. Methods.

  7. Allergic colitis presenting within the first hours of premature life.

    NARCIS (Netherlands)

    Faber, M.R.; Rieu, P.N.M.A.; Semmekrot, B.A.; Krieken, J.H.J.M. van; Tolboom, J.J.M.; Draaisma, J.M.T.

    2005-01-01

    A prematurely born infant developed rectal blood loss several hours after birth, after his first formula feeding. Discontinuing the feeding resolved symptoms, but after resuming feeding rectal blood loss reappeared. There were no signs of necrotizing enterocolitis. Suspecting cow's milk allergy, the

  8. Premature rupture of membranes: many questions still unanswered ...

    African Journals Online (AJOL)

    Management of premature rupture of membranes (PROM) still remains a subject of controversy among obstetricians. Although prompt delivery is generally recommended at term to reduce the risk of perinatal morbidity and mortality, some authors recommend expectant management especially in cases of poor Bishop's ...

  9. Current Concepts in Nutrition--Pregnant Women and Premature Infants.

    Science.gov (United States)

    King, Janet C.; Charlet, Sara

    1978-01-01

    Discusses energy and nutrient requirements of pregnant women with respect to kcal needs and vitamins B-6, folacin, vitamin E, and intake of certain trace elements. Also discusses nutritional needs of the premature infant and the ways of supplying these nutrients. (MA)

  10. Safety of Premature Loading on Reinforced Concrete Slabs | Shema ...

    African Journals Online (AJOL)

    The provision of safe structural systems has always been the object of any structural design formulation and practice. This paper investigates the safety of premature loading on reinforced concrete slabs in a more rational manner. The slab was designed to BS8110 (1985; 1997) provisions. The moment of resistance of a ...

  11. [Incidence and risk factor analysis of retinopathy of prematurity].

    Science.gov (United States)

    Yin, Hong; Li, Xiao-Xin; Li, Hui-Ling; Zhang, Wei

    2005-04-01

    Retinopathy of prematurity (ROP) is a leading cause of infant blindness. This study was designed to screen the high-risk premature infants and investigate the incidence and risk factors associated with the development of ROP. From July 1 2002 to June 30 2003, all premature infants born in Beijing Maternal and Children Healthcare Hospital with birth body weight (BBW) less than 2000 gm or gestational age (GA) less than 34 weeks were enrolled and underwent ophthalmologic examination. The perinatal variables were analyzed to evaluate their correlation with the development of ROP. In 98 premature infants, the incidence of ROP was 17.3% (17 in 98 patients). Four cases with 7 eyes (4.1%) developed threshold ROP. There was significant difference in birth body weight, gestational age, maximal oxygen tension, oxygen use for more than 5 days and sepsis between ROP and Non-ROP groups. Logistic regression analysis indicated that long time use of oxygen was a significant risk factor associated with the development of ROP. GA and BBW were protective factors of ROP. Low birth body weight, young gestational age and long time oxygen usage are the most important risk factors in the development of ROP.

  12. Failure of right atrial premature beats to reset atriofascicular tachycardia.

    Science.gov (United States)

    Porkolab, F L; Alpert, B L; Scheinman, M M

    1999-03-01

    A patient with a right atriofascicular (Mahaim) tachycardia was found to have inducible antidromic supraventricular tachycardia, but atrial premature beats from the right atrial free wall failed to reset the tachycardia. An interesting transition from AV nodal reentry tachycardia to Mahaim tachycardia is also presented.

  13. Predictors of Premature Match Closure in Youth Mentoring Relationships.

    Science.gov (United States)

    Kupersmidt, Janis B; Stump, Kathryn N; Stelter, Rebecca L; Rhodes, Jean E

    2017-03-01

    Although mentoring is a popular and effective means of intervention with youth, the positive effects of mentoring can be diminished by premature match closure of relationships. Program, mentor, and mentee characteristics were examined as predictors of premature match closure. Secondary data analyses were conducted on a large national database of mentoring programs consisting of match and youth risk information from 170 mentoring programs and 6468 matches from across the U.S. Premature closure was associated with mentee age at match inception and 19 individual mentee characteristics. The set of mentee characteristics were examined as part of a cumulative risk index encompassing seven conceptually combined categories including family background characteristics, school functioning problems, engagement in risky health behaviors, self-regulation difficulties, engagement in illegal or criminal activities, and internalizing and externalizing behavior problems. Both the age of mentees when matched and the cumulative risk index score significantly predicted premature closure. Results are discussed in terms of directions for future research and suggestions for enhancing mentoring program practices. © Society for Community Research and Action 2017.

  14. Similar phenotype characteristics comparing familial and sporadic premature ovarian failure

    NARCIS (Netherlands)

    Janse, Femi; Knauff, Erik A. H.; Niermeijer, Martinus F.; Eijkemans, Marinus J.; Laven, Joop S. E.; Lambalk, Cornelius B.; Fauser, Bart C. J. M.; Goverde, Angelique J.; Hoek, Annemieke

    2010-01-01

    Objective: Premature ovarian failure (POF) is characterized by secondary amenorrhea before the age of 40 years, along with repeated increased follicle-stimulating hormone and low estrogen concentrations. POF is considered a complex genetic disease with a familial presentation in 12% to 50% of cases.

  15. [A confrontation between premature ejaculation and difficult ejaculation].

    Science.gov (United States)

    Del Noce, Giorgio; Abraham, Georges

    2010-03-24

    In all current classification of ejaculatory incompetence, premature ejaculation and male anorgasmia are always considered as two opposite clinical disturbances. Nevertheless, any attempt to investigate some possible similarities in their respective pathogenesis could considerably improve not only our understanding of these disorders, but also our therapeutic effectiveness.

  16. Transient hypothyroxinemia of prematurity and problem behavior in young adulthood

    NARCIS (Netherlands)

    Hollanders, J.J.; Pal, S.M. van der; Verkerk, P.H.; Rotteveel, J.; Finken, M.J.J.

    2016-01-01

    Introduction Preterm newborns are at risk of developing transient hypothyroxinemia of prematurity (THoP), which has been associated with subsequent neurodevelopmental impairments. Behavioral outcomes at adult age after THoP have never been reported. Aim To examine whether there is an association

  17. Probiotics in premature infants: focus on necrotising enterocolitis

    African Journals Online (AJOL)

    neonatal intensive care units (NICU).1-3 NEC is rare in term infants, whereas in the ... The premature infant may also be exposed to antibiotic treatment during this ... researchers believe that probiotics should be offered as routine therapy for preterm infants, and that additional placebo-controlled trials are not necessary.

  18. Influence of Perinatal Risk Factors on Premature Labor Outcome

    Directory of Open Access Journals (Sweden)

    Agamurad A. Orazmuradov

    2016-09-01

    Full Text Available In this article, for the first time, the problem of premature labor (PL is considered from the standpoint of the concept of perinatal obstetric risk. The obtained results show that the optimal choice of the mode of delivery must be based on gestational age and perinatal risk (PR factors with calculation of their intrapartum gain (IG.

  19. Management practices to control premature senescence in bt cotton

    Science.gov (United States)

    Commercial cultivation of Bt cotton produced higher boll load which led to stiff inter-organal competition for photosynthates resulting in early cessation of growth (premature senescence) due to more availability of sink and less sources. To overcome this problem field experiment was conducted durin...

  20. Probiotics in premature infants: focus on necrotising enterocolitis ...

    African Journals Online (AJOL)

    The premature infant may be exposed to an environment that is associated with the development of gastrointestinal complications. In preventing the latter, it is crucial that, if probiotics is chosen as a preventive measure, the selection of a safe product with documented probiotic properties together with close monitoring of ...

  1. Prematurity in Central Hospital and GN Children's Clinic in Warri ...

    African Journals Online (AJOL)

    Materials and Method: Retrieval and analysis of casenotes of all the premature babies seen between 2000 and 2007 at General Hospital Warri, a specialist hospital with referrals from surrounding General Hospitals, and GN Children's Clinic, the two major ... Kangaroo nursing was introduced very early in the management.

  2. Hamartomatous polyposis syndromes

    DEFF Research Database (Denmark)

    Jelsig, Anne Marie; Qvist, Niels; Brusgaard, Klaus

    2014-01-01

    Hamartomatous Polyposis Syndromes (HPS) are genetic syndromes, which include Peutz-Jeghers syndrome, Juvenile polyposis syndrome, PTEN hamartoma tumour syndrome (Cowden Syndrom, Bannayan-Riley-Ruvalcaba and Proteus Syndrome) as well as hereditary mixed polyposis syndrome. Other syndromes such as ...

  3. Phenotyping and genetic studies of 357 consecutive patients presenting with premature ovarian failure.

    Science.gov (United States)

    Bachelot, Anne; Rouxel, Agnès; Massin, Nathalie; Dulon, Jérome; Courtillot, Carine; Matuchansky, Christine; Badachi, Yasmina; Fortin, Anne; Paniel, Bernard; Lecuru, Fabrice; Lefrère-Belda, Marie-Aude; Constancis, Elisabeth; Thibault, Elisabeth; Meduri, Géri; Guiochon-Mantel, Anne; Misrahi, Micheline; Kuttenn, Frédérique; Touraine, Philippe

    2009-07-01

    Premature ovarian failure (POF) encompasses a heterogeneous spectrum of conditions, with phenotypic variability among patients. The etiology of POF remains unknown in most cases. We performed a global phenotyping of POF women with the aim of better orienting attempts at an etiological diagnosis. We performed a mixed retrospective and prospective study of clinical, biological, histological, morphological, and genetic data relating to 357 consecutive POF patients between 1997 and 2008. The study was conducted at a reproductive endocrinology referral center. Seventy-six percent of the patients presented with normal puberty and secondary amenorrhea. Family history was present in 14% of the patients, clinical and/or biological autoimmunity in 14.3%. Fifty-six women had a fluctuating form of POF. The presence of follicles was suggested at ultrasonography in 50% of the patients, and observed in 29% at histology; the negative predictive value of the presence of follicles at ultrasonography was 77%. Bone mineral density alterations were found in 58% of the women. Eight patients had X chromosomal abnormalities other than Turner's syndrome, eight other patients evidenced FMR1 pre-mutation. Two other patients had autoimmune polyendocrine syndrome type 2 and 1. A genetic cause of POF was identified in 25 patients, i.e. 7% of the whole cohort. POF etiology remains most often undiscovered. Novel strategies of POF phenotyping are in such content mandatory to improve the rate of POF patients for whom etiology is identified.

  4. Clinical characteristics of Crouzon syndrome

    Directory of Open Access Journals (Sweden)

    L Balyen

    2017-01-01

    Full Text Available Crouzon syndrome (CS is an genetic disorder with autosomal dominant inheritance caused by mutation of the gene for fibroblast growth factor receptor 2 (FGFR2 was described as one of the varieties of craniosynostosis. In this presented case, premature closure of the sutures had caused restricted skull growth and lack of space for the growing brain resulted to shallowed eyes and cranial and ophthalmic deformities and impairment in tooth development. Management of a patient of CS has two components. First is the release of prematurely fused sutures based on evidence of raised intracranial pressure. Surgery is mainly carried out early after 3–6 months. Second is the craniofacial reconstructive surgery including advancement of the maxilla and frontonasal complex; and other surgeries depending upon the deformities. An increased intracranial pressure impairs brain development and can lead to mental retardation. Because of the delayed diagnosis and treatment in this case, visual and hearing loses and decreased mental capacity and mild retardation.

  5. Goldenhar syndrome: Cardiac anesthesiologist's perspective.

    Science.gov (United States)

    Choudhury, Minati; Kapoor, Poonam Malhotra

    2017-01-01

    Goldenhar syndrome or oculo-auriculo-vertebral dysplasia was defined by Goldenhar in 1952 and redefined by Grolin et al. later. As the name denotes, children with this syndrome present with craniofacial and vertebral anomalies which increase the risk of airway compromise. Neonates and infants with this syndrome often have premature internal organs, low birth weight, and airway disorders. For this reason, safe anesthesia in such infants requires a complete knowledge regarding metabolism and side effects of the drugs. The association of cardiovascular abnormalities is not uncommon and possesses additional challenge for anesthetic management. The aim of this review is to draw attention to the various perioperative problems that can be faced in these infants when they undergo surgery or the correction of the underlying cardiac problem.

  6. Moral distress in the resuscitation of extremely premature infants.

    Science.gov (United States)

    Molloy, Jennifer; Evans, Marilyn; Coughlin, Kevin

    2015-02-01

    To increase our understanding of moral distress experienced by neonatal registered nurses when directly or indirectly involved in the decision-making process of resuscitating infants who are born extremely premature. A secondary qualitative analysis was conducted on a portion of the data collected from an earlier study which explored the ethical decision-making process among health professionals and parents concerning resuscitation of extremely premature infants. A regional, tertiary academic referral hospital in Ontario offering a perinatal program. A total of 15 registered nurses were directly or indirectly involved in the resuscitation of extremely premature infants. Interview transcripts of nurses from the original study were purposefully selected from the original 42 transcripts of health professionals. Inductive content analysis was conducted to identify themes describing factors and situations contributing to moral distress experienced by nurses regarding resuscitation of extremely premature infants. Ethical approval was obtained from the research ethics review board for both the initial study and this secondary data analysis. Five themes, uncertainty, questioning of informed consent, differing perspectives, perceptions of harm and suffering, and being with the family, contribute to the moral distress felt by nurses when exposed to neonatal resuscitation of extremely premature infants. An interesting finding was the nurses' perceived lack of power and influence in the neonatal resuscitation decision-making process. Moral distress continues to be a significant issue for nursing practice, particularly among neonatal nurses. Strategies are needed to help mediate the moral distress experienced by nurses, such as debriefing sessions, effective communication, role clarification, and interprofessional education and collaboration. © The Author(s) 2014.

  7. [Premature labour with or without preterm premature rupture of membranes: maternal, obstetric and neonatal features].

    Science.gov (United States)

    Brandão, Ana Maria Simões; Domingues, Ana Patrícia Rodrigues; Fonseca, Etelvina Morais Ferreira; Miranda, Teresa Maria Antunes; Belo, Adriana; Moura, José Paulo Achando Silva

    2015-09-01

    Evaluation of maternal, obstetrics e neonatal features in both spontaneous preterm births (PTB) with or without preterm premature rupture of membranes (PPROM). Retrospective study of single fetus pregnancies with PTB between 2003 and 2012. PTB associated with ou without PPROM. Exclusion criterias: PTB by medical indication due to fetal/maternal disease and all non accessible or incomplete clinical files. Different characteristics were compared between two groups of PTB: spontaneous PTB without PPROM (sPTB) versusPPROM. Kolmogorov-Smirnov, Levene, χ2, t Student and Mann-Withney tests were used for statistical analysis. From 2,393 PTB of single fetus, 1,432 files were analysed, from which 596 were sPTB and 836 PPROM. The socioeconomic conditions were similar in both groups. Multiparity (50.7 versus 40.3%), personal history of previous PTB (20.8 versus10.2%), cervical length (18.2 versus27.2 mm), lower body index mass (23.4 versus 24.3 kg/m2) and higher infectious parameters (Protein C Reactive: 2.2 versus1.2 mg/L; Leukocytes: 13.3 versus 12.4 x109) were more frequent in PBTs (p<0,001). Neonatal outcomes, specially neurologic outcomes (4.7 versus2.8%, p<0,001), were worst in PBTs. PTB with or without PPROM has a complex etiology. From all evaluated features in our study, only maternal thinness, multiparity with a previous PTB, the cervical length and worst systemic infections parameters were significant in sPTB. This group also showed worst neonatal outcomes, specially on neurological outcomes.

  8. Comparison of strategies for grading retinal images of premature infants for referral warranted retinopathy of prematurity.

    Science.gov (United States)

    Rogers, David L; Bremer, Don L; Fellows, Rae R; Baumritter, Agnieshka; Daniel, Ebenezer; Pastilli, Max; Ying, Gui-Shang; Quinn, Graham E

    2017-04-01

    To determine the accuracy of identifying referral-warranted retinopathy of prematurity (RW-ROP, defined as any zone I ROP, stage 3 or worse, or plus disease) from retinal image sets using three grading protocols: a single optic disk-centered image, a set of 3 horizontal images, and a 5-image set. In this secondary analysis of images from the e-ROP study, a weighted sample of 250 image sets from 250 infants (125 with RW-ROP and 125 without RW-ROP) was randomly selected. The sensitivities and specificities for detecting RW-ROP and its components from a single disk center image, along with nasal and temporal retinal images, were calculated and compared with the e-ROP grading of RW-ROP of all 5 retinal images (disk center and nasal, temporal, superior, and inferior retinal images). RW-ROP was identified with a sensitivity of 11.2% (95% CI, 6.79%-17.9%) using a single disk center image, with a sensitivity of 70.4% (95% CI, 61.9%-77.9%) using 3 horizontal images, and a statistically higher sensitivity of 82.4% (95% CI, 75.0%-89.0%) using all 5 images (P = 0.002). The specificities were 100%, 86.4%, and 90.4%, respectively. For grading using 3 horizontal images, sensitivity was 14.3% for plus disease, 25% for zone I ROP, and 71.2% for stage 3 or worse compared to 40.8%, 50%, and 79.8% for grading using 5-image sets, respectively. Both a single, disk-centered, posterior pole image and 3 horizontal images were less effective than a 5-image set in determining the presence of RW-ROP on qualitative grading by trained readers. Copyright © 2017 American Association for Pediatric Ophthalmology and Strabismus. Published by Elsevier Inc. All rights reserved.

  9. 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.

  10. Proposal for a definition of lifelong premature ejaculation based on epidemiological stopwatch data

    NARCIS (Netherlands)

    Waldinger, Marcel D.; Zwinderman, Aeilko H.; Olivier, Berend; Schweitzer, Dave H.

    2005-01-01

    Introduction. Consensus on a definition of premature ejaculation has not yet been reached because of debates based on subjective authority opinions and nonstandardized assessment methods to measure ejaculation time and ejaculation control. Aim. To provide a definition for lifelong premature

  11. The risk of psychiatric disorders in individuals born prematurely in Denmark from 1974 to 1996

    DEFF Research Database (Denmark)

    Mathiasen, René; Hansen, Bo Mølholm; Forman, Julie Lyng

    2011-01-01

    To investigate the risk of developing psychiatric disorders in individuals born prematurely (born before 37 weeks of gestation).......To investigate the risk of developing psychiatric disorders in individuals born prematurely (born before 37 weeks of gestation)....

  12. Comparative Study of Nutritive Sucking in the Newborn (Premature and Full-Term)

    Science.gov (United States)

    Cortial, Christiane; Lezine, Irene

    1974-01-01

    Describes a graphic analysis of the disorganized sucking patterns in premature infants, and points out the psychoprophylactic importance of individually appropriate feeding procedures which should be used in the care of premature infants. (Author/CS)

  13. Comparative study of visual functions in premature pre-school children with and without retinopathy of prematurity

    Directory of Open Access Journals (Sweden)

    Lígia Beatriz Bonotto

    2014-01-01

    Full Text Available Purpose: Observe whether there are differences in visual functions among premature infants with treated retinopathy of prematurity (ROP in relation to preterm infants with ROP and spontaneous regression; and among these two groups with ROP and the control group without ROP. Methods: Crosssectional observational no blind study. Premature infants were born between 06/199206/2006 and were exam between 06/200912/2010; registered in data of Hospital de Olhos Sandalla Amin Ghanem; with gestational age less than or equal to 32 weeks and 1,599 g born weigh; without ROP and ROP stages II or III, in one of the eyes, with spontaneous regression or with treatment; at least three visits during the selection period at maximum 6 months in the first exam and minimum 4 years of age in reassessment (chronological age were include. Premature that did not respond or were not located for reassessment and those that did not have conditions to do the exams were exclude. Study's groups: G1 ROP posttreatment; G2ROP postspontaneous regression; G3 without ROP (control. Visual function evaluated with visual acuity (VA, contrast sensitivity test (CST, color test (CT, eye movement, stereopsis. Results: Overall, there were 24 premature infants and 48 eyes. Normal VA: 64.28% (G1, 87.5% (G2 and 100% (G3; Normal CST: 66.67% (G1, 100% (G2 and 55.56% (G3; Normal Ishihara CT: 100% (G1 and G2 and 86% (G3; Normal Farnsworth CT: 20% (G1, 75% (G2 and 50% (G3. Normal stereoacuity: 0.00% (G1; 25% (G2 and 3.5% (G3. Strabismus: 37% (G2, 0.00% (G1 and G3. The prevalent tendency for lower response in CST and CT between the premature children in group G3 and Farnsworth color test in G1 is a curious result of this work and more study is necessary about these visual functions in older premature children. Conclusion: The visual functions showed no statistically significant difference among the groups studied.

  14. Thyroid-stimulating hormone assessments in a Dutch cohort of 620 men with lifelong premature ejaculation without erectile dysfunction

    NARCIS (Netherlands)

    Waldinger, Marcel D.; Zwinderman, Aeilko H.; Olivier, Berend; Schweitzer, Dave H.

    2005-01-01

    Introduction. Apart from the involvement of central serotonergic neurotransmission on lifelong premature ejaculation, interference of thyroid function has been speculated. Aim. To study thyroid function in a large group of men with lifelong premature ejaculation (LPE). Methods. Lifelong premature

  15. Standardizing documentation and the clinical approach to apnea of prematurity reduces length of stay, improves staff satisfaction, and decreases hospital cost.

    Science.gov (United States)

    Butler, T Jeffrey; Firestone, Kimberly S; Grow, Jennifer L; Kantak, Anand D

    2014-06-01

    Apnea of prematurity, a common disorder, can severely compromise an infant's condition unless correctly diagnosed and treated. Infants with a history of apnea of prematurity can be discharged home but then be rehospitalized for an apneic event, an apparent life-threatening event, or sudden infant death syndrome. The definition of a clinically significant cardiopulmonary event, such events' documentation, and the treatment approach were standardized, and discharge criteria were refined. A prospective, single-center comparison was conducted between a group of premature infants before and after implementation of the standard approach. Data were collected prospectively from August 1, 2005, through July 21, 2006, for the prestandard-approach group and from August 1, 2006, through September 16, 2007, for the standard-approach group. Twenty-two (35%) of the 63 infants in the prestandard-approach group experienced discharge delays because of poor documentation, whereby the clinician could not determine the safety of discharge. This resulted in 59 additional hospital days (mean length-of-stay [LOS] increase, 5.7 days). The standard-approach group of 72 infants experienced no discharge delays and no additional hospital days, and LOS decreased (all p or = 96%. Implementation of a standard approach to the definition of apnea of prematurity and its treatment and documentation decreases LOS and reduces cost.

  16. Pharmacological Bypass of Cockayne Syndrome B Function in Neuronal Differentiation

    OpenAIRE

    Wang, Yuming; Jones-Tabah, Jace; Chakravarty, Probir; Stewart, Aengus; Muotri, Alysson; Laposa, Rebecca?R.; Svejstrup, Jesper?Q.

    2016-01-01

    Summary Cockayne syndrome (CS) is a severe neurodevelopmental disorder characterized by growth abnormalities, premature aging, and photosensitivity. Mutation of Cockayne syndrome B (CSB) affects neuronal gene expression and differentiation, so we attempted to bypass its function by expressing downstream target genes. Intriguingly, ectopic expression of Synaptotagmin 9 (SYT9), a key component of the machinery controlling neurotrophin release, bypasses the need for CSB in neuritogenesis. Import...

  17. Prosthodontic rehabilitation in Papillon-Lefevre syndrome: A case report

    Directory of Open Access Journals (Sweden)

    Jain Veena

    2005-06-01

    Full Text Available Papillon-Lefevre syndrome is a rare recessive genetic disorder. The clinical manifestations include palmar-plantar hyperkeratosis with precocious rapidly progressive periodontal disease that results in premature exfoliation of primary and permanent dentitions. Patients are often edentulous at an early age. Here is the report of prosthodontic rehabilitation of a case of Papillon-Lefevre syndrome in a 6-year-old child.

  18. Wheezing lower respiratory disease and vaccination of premature infants.

    Science.gov (United States)

    Mullooly, John P; Schuler, Roberleigh; Mesa, Jill; Drew, Lois; DeStefano, Frank

    2011-10-13

    Premature infants are at increased risk of wheezing in association with respiratory syncytial virus (RSV) and rhinovirus infections. We assess possible associations between wheezing and routine vaccinations of premature infants. We conducted a self-controlled case series (SCCS) study of premature infants born at five health maintenance organizations (HMO's) from 1997 to 2002 (N=18,628). Episodes of medically attended wheezing lower respiratory diseases (WLRD) were ascertained from ICD-9 coded database records. Relative risks of WLRD during post-vaccination exposure windows were estimated by Cox proportional hazard regression with time-dependent vaccine exposure variables, adjusted for age, season, and frequency of well-baby visits. WLRD hazard ratios (HR) were not significantly elevated for any vaccine type among non-fragile or fragile premature infants. Among non-fragile infants the 8-14 days HR was significantly reduced for live attenuated MMR (0.68, 0.52-0.88) and Varicella (0.71, 0.53-0.94) vaccines, and similarly but insignificantly reduced for infrequently used live attenuated OPV vaccine (0.70, 0.46-1.06). There was a smaller significant reduction (0.83, 0.69-0.998) in the 15-30 days HR for MMR and a similar but not significant reduction (0.86, 0.71-1.05) in the 31-44 days HR for MMR. Hepatitis B vaccine (HBV), which is not a live vaccine, had significantly reduced 8-14 days (0.84, 0.72-0.98) and 31-44 days (0.88, 0.78-0.98) HRs among non-fragile infants. The apparent protective effect of HBV may be confounded by live vaccines administered simultaneously with the third dose of HBV. Among fragile infants there was a large significant reduction in the 8-14 days HR for live attenuated OPV vaccine (0.40, 0.23-0.70) and smaller significant reductions in the 8-14 days HR for inactivated DTaP (0.82, 0.71-0.95), Hib (0.83, 0.73-0.96), and PCV7 (0.84, 0.70-0.997) vaccines. Delays in vaccinating fragile infants may have made simultaneous administration of live

  19. Risk factors for retinopathy of prematurity in very low birth-weight infants.

    Science.gov (United States)

    Lin, Hui-Ju; Lin, Cheng-Chieh; Tsai, Shih-Wei; Lin, Horg-Chin; Su, Bai-Horng

    2003-11-01

    To calculate incidence and evaluate the risk factors of the threshold retinopathy of prematurity (ROP) in very low birth-weight (VLBW, birth weight less than 1,251 gram) infants. We also compared the incidence of threshold ROP in Taiwan with those of Caucasians and Negros. Additionally, the post-conception age when threshold ROP happened was considered. From February 1995 to February 2000, we enrolled 458 VLBW infants at the China Medical College Hospital. Patients with congenital anomalies and those who survived less than 6 months were excluded. The perinatal and neonatal data of enrolled infants were reviewed. Student's t test and chi-square test were used to evaluate the statistical significance of risk factors. We also used logistic regression test and correct classification rate to evaluate different risk factors. The incidence of threshold ROP in our study was 6.8%. The gestational age (GA), birth weight (BW), number of days in using ventilator, continuous positive airway pressure (CPAP) and oxygen supplements, the occurrence of broncopulmonary dysplasia (BPD), respiratory distress syndrome (RDS), periventricular leukomalacia (PVL), necrotizing enterocolitis (NEC) and the length of hospitalization were statistically different between patients groups with and without threshold ROP (p 0.05). Threshold ROP was noted at an average post-conception age of 34.25 weeks. The incidence of threshold ROP (6.8%) in VLBW Taiwan babies is comparable with the incidence of Caucasian patients in Western countries. Risk factors including PVL, NEC, BPD and RDS should be avoided to prevent the occurrence of threshold ROP. Threshold ROP occurred at an average of 34.3 weeks of post-conception age; the premature baby around this age must be checked carefully.

  20. Obstetric aspects of the Guillan-Barré syndrome.

    Science.gov (United States)

    Sudo, N; Weingold, A B

    1975-01-01

    Two additional cases of Guillain-Barre syndrome complicating pregnancy are reported and the 25 previously published cases reviewed. While fetal prognosis is generally favorable, the occurrence of the disease in late pregnancy is a high-rish maternal condition. Respiratory failure and aspiration pneumonitis may result in premature labor and maternal mortality.

  1. Polyhydramnios, Transient Antenatal Bartter's Syndrome, and MAGED2 Mutations

    NARCIS (Netherlands)

    Laghmani, Kamel; Beck, Bodo B.; Yang, Sung-Sen; Seaayfan, Elie; Wenzel, Andrea; Reusch, Bjorn; Vitzthum, Helga; Priem, Dario; Demaretz, Sylvie; Bergmann, Klasien; Duin, Leonie K.; Goebel, Heike; Mache, Christoph; Thiele, Holger; Bartram, Malte P.; Dombret, Carlos; Altmueller, Janine; Nuernberg, Peter; Benzing, Thomas; Levtchenko, Elena; Seyberth, Hannsjoerg W.; Klaus, Guenter; Yigit, Goekhan; Lin, Shih-Hua; Timmer, Albert; de Koning, Tom J.; Scherjon, Sicco; Schlingmann, Karl P.; Bertrand, Mathieu J. M.; Rinschen, Markus M.; de Backer, Olivier; Konrad, Martin; Koemhoff, Martin

    2016-01-01

    BACKGROUND Three' pregnancies with male offspring in one family were complicated by severe polyhydramnios and prematurity. One fetus died; the other two had transient massive salt-wasting and polyuria reminiscent of antenatal Bartter's syndrome. METHODS To uncover the molecular cause of this

  2. Outcomes of preterm premature rupture of membranes in twin pregnancies.

    Science.gov (United States)

    Trentacoste, Stephanie V; Jean-Pierre, Claudel; Baergen, Rebecca; Chasen, Stephen T

    2008-08-01

    To describe outcomes in twin pregnancies with preterm premature rupture of membranes (PPROM). Dichorionic twin pregnancies complicated by PPROM at premature rupture of membranes (PROM), latency from PROM to delivery, and infection were examined. In 49 twin pregnancies, the median gestational age at PROM was 31 weeks with a median latency between PROM and delivery of 0 days (interquartile range 0-6). Latency intervals of >or=2 and >or=7 days were achieved by 40.8% and 22.4%, respectively. PPROM at or= 2 days (70.6% vs. 25.0%) and >or=7 days (47.1% vs. 9.4%). There was a significant relationship between latency and clinical and histologic signs of infection. After 30 weeks, most twin pregnancies with PPROM delivered within 2 days. Infection appears to be a consequence rather than a cause of PPROM in most cases.

  3. Respiratory changes related to prematurity in neonatal intensive care

    Directory of Open Access Journals (Sweden)

    Francieli Cristina Krey

    2016-01-01

    Full Text Available Objective: to identify respiratory clinical changes in preterm newborns hospitalized in the Neonatal Intensive Care Unit. Methods: this is a documentary research with 145 medical records by an instrument with sociodemographic variables of preterm newborns and their mothers. Results: most of the newborn were male, 66.9% were born surgically, 64.8% were moderately premature, and the birth weights were between 1,500 and 2,500 grams. Among the respiratory changes, there were early respiratory dysfunction, hyaline membrane, and apnea. There was the prevalence of women in preterm labor (42.8%, water breaking (32.4% and pre-eclampsia (20.7% among others were found to be related to obstetric factors related to prematurity. Conclusion: a high incidence of preterm births was observed, with significant respiratory changes.

  4. [Clinical efficacy of Viagra with behavior therapy against premature ejaculation].

    Science.gov (United States)

    Tang, Wenhao; Ma, Lulin; Zhao, Lianming; Liu, Yuqing; Chen, Zhenwen

    2004-05-01

    To study the efficacy of Viagra combined with behavior therapy against premature ejaculation (PE). Sixty PE patients were divided into two groups randomly: control group (behavior therapy alone) and the group of Viagra combined with behavior therapy. Intra-vaginal ejaculation latency time (IELT) and the coitus satisfaction of the patient and the partner were recorded before and after treatment. The IELTs of the two groups were 0.80 +/- 0.20 and 0.73 +/- 0.24 minutes respectively before treatment, and 1.82 +/- 0.54 and 3.63 +/- 0.55 minutes respectively after treatment. As for IELT and satisfaction degree, Viagra produced better result than behavior therapy. During this clinical trial, Viagra combined with behavior therapy prolonged IELT, which suggests that Viagra may be helpful for the treatment of premature ejaculation.

  5. Audiologic Assessment in Adults with Down Syndrome

    Science.gov (United States)

    Picciotti, Pasqualina M.; Carfì, Angelo; Anzivino, Roberta; Paludetti, Gaetano; Conti, Guido; Brandi, Vincenzo; Bernabei, Roberto; Onder, Graziano

    2017-01-01

    Increased life expectancy in persons with Down syndrome (DS) is associated with premature age-related changes. The aim of this study was to assess auditory function in adults with DS and to evaluate the prevalence of hearing loss in this population. Audiometric tests were performed in 72 adults with DS (mean age 37.3 ± 10.1 years, 51.4% females).…

  6. The Impact of Kangaroo Care on Premature Infant Weight Gain.

    Science.gov (United States)

    Evereklian, Melvina; Posmontier, Bobbie

    Preterm births occur among 11.4% of all live infant births. Without steady weight gain, premature infants may experience lengthy hospitalizations, neurodevelopmental deficits and hospital readmissions, which can increase the financial burden on the health care system and their families. The total U.S. health-related costs linked to preterm infant deliveries are estimated at $4.33 billion. Kangaroo care is a feasible practice that can improve preterm infant weight gain. However, this intervention is utilized less often throughout the U.S. due to numerous barriers including a lack of consistent protocols, inadequate knowledge, and decreased level of confidence in demonstrating the proper kangarooing technique. An integrative review was conducted to evaluate the impact of kangaroo care on premature infant weight gain in order to educate nurses about its efficacy among preterm infants. A literature search was conducted using CINAHL, PubMed, Cochrane Reviews, ClinicalKey and Google Scholar. Large volume searches were restricted using appropriate filters and limiters. Most of the evaluated studies determined that weight gain was greater among the kangarooing premature infants. Kangaroo care is a low-tech low-cost modality that can facilitate improved preterm infant weight gain even in low-resource settings. Despite its current efficacy, kangaroo care is not widely utilized due to several barriers including an absence of standardized protocols and a lack of knowledge about its benefits. Kangaroo care can become a widespread formalized practice after nurses and parents learn about the technique and its numerous benefits for premature infants, including its association with improved weight gain. Copyright © 2017 Elsevier Inc. All rights reserved.

  7. Premature epiphyseal fusion and extramedullary hematopoiesis in thalassemia

    Energy Technology Data Exchange (ETDEWEB)

    Colavita, N.; Orazi, C.; Danza, S.M.; Falappa, P.G.; Fabbri, R.

    1987-10-01

    The main skeletal abnormalities in ..beta..-thalassemia are widening of medullary spaces, rarefaction of bone trabeculae, thinning of cortical bone, and perpendicular periosteal spiculation. Premature epiphyseal fusion (PEF) and extramedullary hematopoiesis (EH) are found, though more rarely. The incidence of PEF and EH in 64 patients affected by ..beta..-thalassemia is reported. The different incidence of such complications in thalassemia major and intermedia is reported, and a possible correlation with transfusion regimen is also considered.

  8. BREAST FEEDING SUPPORT IN PREMATURE INFANTS: PROBLEMS AND SOLUTIONS

    OpenAIRE

    I. A. Belyaeva; T. V. Turti; O. L. Lukoyanova; M. I. Ivardava; E. O. Tarzyan

    2014-01-01

    Support of long-term breast feeding is a pressing issue of neonatology. It is known that the unique composition of breast milk ensures proper physical and neuropsychic development of infants, as it contains all the necessary nutrients in the sufficient amount and optimal proportion. The authors gave specific attention to provision of premature infants, especially with very low and extremely low birth weight, with breast milk. However, it is very difficult to launch and maintain breast feeding...

  9. BREAST FEEDING SUPPORT IN PREMATURE INFANTS: PROBLEMS AND SOLUTIONS

    Directory of Open Access Journals (Sweden)

    I. A. Belyaeva

    2014-01-01

    Full Text Available Support of long-term breast feeding is a pressing issue of neonatology. It is known that the unique composition of breast milk ensures proper physical and neuropsychic development of infants, as it contains all the necessary nutrients in the sufficient amount and optimal proportion. The authors gave specific attention to provision of premature infants, especially with very low and extremely low birth weight, with breast milk. However, it is very difficult to launch and maintain breast feeding in this very category of patients. There are many reasons impeding adequate provision of premature infants with breast milk. The main problem on the part of the mother is hypogalactia, which may be caused by preterm labor stress, lack of confidence in successful lactation, temporary medical contraindications and, therefore, deviant formation of the lactation dominant, motivation towards prolonged breast feeding etc. On the part of the child: severe condition, no or weak sucking reflex, often — prolonged parenteral and tube feeding, need in supplementary feeding. The article presents published data on various methods of maintaining breast feeding at the stage of hospital developmental care of premature infants and experience of breast feeding support accumulated at the Scientific Center of Children’s Health, which proves that simultaneous support and follow-up of the child’s mother and her family in whole by several specialists (neonatologist/pediatrician, psychologist, breast physician, dietician and recreation therapist not only at the stages of labor and development care, but also after discharge from hospital are required to ensure rational and prolonged breast feeding of premature infants and normal growth and development thereof. 

  10. The Premature Use of English Grammar by EFL Learners

    Directory of Open Access Journals (Sweden)

    Nur Mukminatien

    1999-01-01

    Full Text Available The roles of conscious learning and error corrections have been questioned since the development of communicative approaches to language teaching, along with theoritical and empirical insights from Second Language Acquisition (SLA research. Whether overt learning really helps the learner produce better L2 performance is a mistery. This article describes the premature use of English Grammar by EFL learners as shown on their writing performance. It also reviews theoritical insights from SLA theories to uncover the mystery.

  11. Preterm premature rupture of the fetal membranes: current concepts.

    Science.gov (United States)

    Srinivas, S K; Macones, G A

    2005-08-01

    Preterm birth and preterm premature rupture of membranes (PPROM) are common causes of perinatal morbidity and mortality. Fetal membrane integrity is regulated partially by collagenases and inhibitors. A number of genetic polymorphisms with genes related to infection, inflammation and collagen degradation have been identified and studies as risk factors for PPROM. This manuscript reviews the state of the science on the pathophysiology of PPROM and possible genetic influences.

  12. Oxytocin enhances onset of lactation among mothers delivering prematurely.

    OpenAIRE

    Ruis, H; Rolland, R; Doesburg, W; Broeders, G; Corbey, R

    1981-01-01

    In a double-blind group sequential trial the efficiency of an oxytocin nasal spray in enhancing lactation was studied during the first five days after delivery in women who had given birth prematurely. The cumulative volume of breast milk obtained between the second and fifth days after delivery was 3.5 times greater in primiparas given oxytocin than in primiparas given placebo. There was no significant difference in the composition of the milk between the untreated women and those given oxyt...

  13. Orthopedic Conditions of the Premature and Dysmature Foal.

    Science.gov (United States)

    Coleman, Michelle C; Whitfield-Cargile, Canaan

    2017-08-01

    Incomplete ossification of the cuboidal bones is a common finding in premature and dysmature foals, and possibly in foals with hypothyroidism. Radiographs of the carpus and tarsus should be performed in any high-risk foal to obtain a diagnosis. Goals of treatment include limiting weight bearing and exercise. The prognosis is guarded depending on the degree of incomplete ossification. Copyright © 2017 Elsevier Inc. All rights reserved.

  14. Two novel mutations in ERCC6 cause Cockayne syndrome B in a Chinese family

    OpenAIRE

    He, Chunxia; Sun, Mao; Wang, Guoxia; Yang, Ying; Yao, Libo; Wu, Yuanming

    2017-01-01

    Cockayne syndrome (CS) is a rare autosomal recessive disorder characterized principally by progressive growth failure, neurologic abnormality and premature aging. Mutations of excision repair cross-complementation group 6 (ERCC6) and ERCC8 are predominantly responsible for CS, of which mutation of ERCC6 accounts for approximately two thirds of cases. The current report describes two siblings with severe neurologic abnormality and premature aging. Whole exome sequencing identified two novel mu...

  15. Interactive behaviors of ethnic minority mothers and their premature infants.

    Science.gov (United States)

    Brooks, Jada L; Holditch-Davis, Diane; Landerman, Lawrence R

    2013-01-01

    To compare the interactive behaviors of American Indian mothers and their premature infants with those of African American mothers and their premature infants. Descriptive, comparative study. Three neonatal intensive care units and two pediatric clinics in the southeast. Seventy-seven mother/infant dyads: 17 American Indian mother/infant dyads and 60 African American mother/infant dyads. Videotapes of mother/infant interactions and the Home Observation for Measurement of the Environment (HOME) were used to assess the interactions of the mothers and their premature infants at 6 months corrected age. American Indian mothers looked more, gestured more, and were more often the primary caregivers to their infants than the African American mothers. American Indian infants expressed more positive affect and gestured more to their mothers, whereas African American infants engaged in more non-negative vocalization toward their mothers. African American mothers scored higher on the HOME subscales of provision of appropriate play materials and parental involvement with the infant. American Indian mothers scored higher on the opportunities for variety in daily living subscale. Although many of the interactive behaviors of American Indian and African American mother/infant dyads were similar, some differences did occur. Clinicians need to be aware of the cultural differences in mother/infant interactions. To optimize child developmental outcomes, nurses need to support mothers in their continuation or adoption of positive interactive behaviors. © 2013 AWHONN, the Association of Women's Health, Obstetric and Neonatal Nurses.

  16. Inflammation and premature aging in advanced chronic kidney disease.

    Science.gov (United States)

    Kooman, Jeroen P; Dekker, Marijke J; Usvyat, Len A; Kotanko, Peter; van der Sande, Frank M; Schalkwijk, Casper G; Shiels, Paul G; Stenvinkel, Peter

    2017-10-01

    Systemic inflammation in end-stage renal disease is an established risk factor for mortality and a catalyst for other complications, which are related to a premature aging phenotype, including muscle wasting, vascular calcification, and other forms of premature vascular disease, depression, osteoporosis, and frailty. Uremic inflammation is also mechanistically related to mechanisms involved in the aging process, such as telomere shortening, mitochondrial dysfunction, and altered nutrient sensing, which can have a direct effect on cellular and tissue function. In addition to uremia-specific causes, such as abnormalities in the phosphate-Klotho axis, there are remarkable similarities between the pathophysiology of uremic inflammation and so-called "inflammaging" in the general population. Potentially relevant, but still somewhat unexplored in this respect, are abnormal or misplaced protein structures, as well as abnormalities in tissue homeostasis, which evoke danger signals through damage-associated molecular patterns, as well as the senescence-associated secretory phenotype. Systemic inflammation, in combination with the loss of kidney function, can impair the resilience of the body to external and internal stressors by reduced functional and structural tissue reserves, and by impairing normal organ crosstalk, thus providing an explanation for the greatly increased risk of homeostatic breakdown in this population. In this review, the relationship between uremic inflammation and a premature aging phenotype, as well as potential causes and consequences, are discussed. Copyright © 2017 the American Physiological Society.

  17. Prematurity and Programming Contribution of neonatal (NICU) interventions

    Science.gov (United States)

    Kalhan, Satish C; Wilson-Costello, Dee

    2014-01-01

    Contemporary clinical practice for the care of the prematurely born babies has markedly improved their rates of survival so that most of these babies are expected to grow up to live a healthy functional life. Since the clinical follow up is of short duration (years), only limited data are available to relate non-communicable diseases in adult life to events and interventions in the neonatal period. The major events that could have a programming effect include (1) Intrauterine growth restriction (2) Interruption of pregnancy with change in redox and reactive oxygen species injury (3) Nutritional and pharmacological protocols for Clinical care (4) Nutritional care in the first two years resulting in accelerated weight gain. The available data are discussed in the context of perturbations in one carbon (methyl transfer) metabolism and its possible programming effects. Although direct evidence for genomic methylation is not available, clinical and experimental data on impact of redox and ROS, of low protein intake, excess methionine load and vitamin A, on methyl transfers are reviewed. The consequences of antenatal and postnatal administration of glucocorticoids are presented. Analysis of the correlates of insulin sensitivity at older age, suggests that premature birth is the major contributor, and is compounded by gain in weight during infancy. We speculate that premature interruption of pregnancy and neonatal interventions by effecting one carbon metabolism may cause programming effects on the immature baby. These can be additive to the effects of intrauterine environment (growth restriction) and are compounded by accelerated growth in early infancy. PMID:25054678

  18. Prematurity-Related Hypertension in Children and Adolescents

    Directory of Open Access Journals (Sweden)

    Karolina Poplawska

    2012-01-01

    Full Text Available Due to the functional and structural immaturity of different organ systems, preterms have a higher rate of morbidity and mortality. The prevention and treatment of the complications of prematurity is a major challenge in perinatal health care. Recently, there have been several multicenter research trials analysing the impact of prematurity or low birth weight on the health problems of children and adolescents. Many of these studies deal with the issue of pediatric hypertension. An analysis of 15 studies conducted in the years 1998–2011, in which blood pressure values in ex-preterm children were measured, was performed. Comparison was based on several issues: measurement method, cohorts age, size, and birthweight. It has been proven that hypertension occurs more often in former preterm infants; however the etiologic pathways that cause this condition still remain unclear. Moreover, pediatric hypertension is a significant problem, because of its transformation into adult hypertension and increased cardiovascular risk later in life. Therefore it is crucial to introduce wide-spread screening and detection of elevated blood pressure, especially among prematurely born children.

  19. Daily Enteral DHA Supplementation Alleviates Deficiency in Premature Infants.

    Science.gov (United States)

    Baack, Michelle L; Puumala, Susan E; Messier, Stephen E; Pritchett, Deborah K; Harris, William S

    2016-04-01

    Docosahexaenoic acid (DHA) is an essential fatty acid (FA) important for health and neurodevelopment. Premature infants are at risk of DHA deficiency and circulating levels directly correlate with health outcomes. Most supplementation strategies have focused on increasing DHA content in mother's milk or infant formula. However, extremely premature infants may not reach full feedings for weeks and commercially available parenteral lipid emulsions do not contain preformed DHA, so blood levels decline rapidly after birth. Our objective was to develop a DHA supplementation strategy to overcome these barriers. This double-blind, randomized, controlled trial determined feasibility, tolerability and efficacy of daily enteral DHA supplementation (50 mg/day) in addition to standard nutrition for preterm infants (24-34 weeks gestational age) beginning in the first week of life. Blood FA levels were analyzed at baseline, full feedings and near discharge in DHA (n = 31) or placebo supplemented (n = 29) preterm infants. Term peers (n = 30) were analyzed for comparison. Preterm infants had lower baseline DHA levels (p DHA had a progressive increase in circulating DHA over time (from 3.33 to 4.09 wt% or 2.88 to 3.55 mol%, p DHA supplementation, preterm infants still had lower blood DHA levels than term peers (4.97 wt% or 4.31 mol%) at discharge (p = 0.0002). No differences in adverse events were observed between the groups. Overall, daily enteral DHA supplementation is feasible and alleviates deficiency in premature infants.

  20. Daily Enteral DHA Supplementation Alleviates Deficiency in Premature Infants

    Science.gov (United States)

    Baack, Michelle L; Puumala, Susan E; Messier, Stephen E; Pritchett, Deborah K; Harris, William S

    2016-01-01

    Docosahexaenoic acid (DHA) is an essential fatty acid (FA) important for health and neurodevelopment. Premature infants are at risk of DHA deficiency and circulating levels directly correlate with health outcomes. Most supplementation strategies have focused on increasing DHA content in mother’s milk or infant formula. However, extremely premature infants may not reach full feedings for weeks and commercially available parenteral lipid emulsions do not contain preformed DHA, so blood levels decline rapidly after birth. Our objective was to develop a DHA supplementation strategy to overcome these barriers. This double-blind, randomized, controlled trial determined feasibility, tolerability and efficacy of daily enteral DHA supplementation (50mg/d) in addition to standard nutrition for preterm infants (24–34 weeks GA) beginning in the first week of life. Blood FA levels were analyzed at baseline, full feedings and near discharge in DHA (n=31) or placebo supplemented (n=29) preterm infants. Term peers (n=30) were analyzed for comparison. Preterm infants had lower baseline DHA levels (pDHA had a progressive increase in circulating DHA over time (from 3.33% to 4.09%, pDHA supplementation, preterm infants still had lower blood DHA levels than term peers (4.97%) at discharge (p=0.0002). No differences in adverse events were observed between the groups. Overall, daily enteral DHA supplementation is feasible and alleviates deficiency in premature infants. PMID:26846324

  1. The Severity of Retinopathy in the Extremely Premature Infants

    Directory of Open Access Journals (Sweden)

    Alexandra Trivli

    2017-01-01

    Full Text Available Objective. We aimed to investigate the incidence and the severity of retinopathy of extremely premature infants and to evaluate the risk factors and outcome of the cases. Materials and Methods. Out of 200 premature births, we retrospectively reviewed 9 cases that developed ROP. We excluded cases where ROP developed in newborns > 30 weeks of gestational age and cases where medical notes were unavailable or incomplete. Topical drops of cyclopentolate 1% and phenylephrine 5% were instilled and fundoscopy was performed using a direct ophthalmoscope. Results. The incidence of ROP was 4.5% in the 9-year period. The infants were divided into two groups. Group 1 included premature infants ≤27 weeks of age and Group 2 included those >27 weeks but ≤ 30 weeks of age. We found that the infants of Group 1 showed advanced stages of ROP in comparison to Group 2. Out of 18 eyes, 11 eyes had stage 3 ROP and they were all found in Group 1 (100% of cases. Conclusion. The severity of ROP was associated with earlier gestational age, lower birth weight, and oxygen supplementation. Constant cooperation between physicians and nursing staff is necessary to avoid undetected cases and further prevent ROP related blindness.

  2. Breastmilk cultures and infection in extremely premature infants.

    Science.gov (United States)

    Schanler, R J; Fraley, J K; Lau, C; Hurst, N M; Horvath, L; Rossmann, S N

    2011-05-01

    As expressed mother's milk (MM) is known to be colonized by microbial species, it is occasionally considered as a source of infection in premature infants, prompting some clinicians to obtain milk bacterial culture results before infant feeding. To determine whether serial microbial cultures of MM predict infection in premature infants. Milk microbial flora was determined by plate counts from aliquots of MM obtained from 161 mothers of infants born Milk samples (n = 813) yielded 1963 isolates. There were no relationships between microbial counts and maternal age, ethnicity, education, skin-to-skin contact and infant infection. In 64 infants, milk and pathological isolates had presumptively the same Gram-positive organism, yet the odds of infection before or after exposure to milk containing that Gram-positive organism were not significant (1.18; 95% confidence interval=0.51, 2.76). In eight infants, milk and pathological isolates had presumptively the same Gram-negative organism, which appeared sporadically in milk, either before or after isolation in the infant. Results of initial milk cultures do not predict subsequent culture results. Random milk cultures, even if obtained at any time during hospitalization, are not predictive of infection in premature infants. The sporadic nature of the appearance of certain isolates, however, suggests common exposure of both mother and infant. Routine milk cultures do not provide sufficient data to be useful in clinical management.

  3. Claustrophobia and premature termination of magnetic resonance imaging examinations.

    Science.gov (United States)

    Eshed, Iris; Althoff, Christian E; Hamm, Bernd; Hermann, Kay-Geert A

    2007-08-01

    To evaluate the incidence of MRI-related claustrophobia and prematurely terminated MRI (ptMRI) examinations due to claustrophobia in a large-scale cohort study. The hospital's computerized radiology information system (RIS) was retrospectively analyzed for all 1.5-Tesla MRI examinations and reports during the year 2004. Data collected included demographic information, body part examined, known claustrophobia, and whether the examination was prematurely terminated. All information available on the MRI examinations and the patient-based data (i.e., excluding any additional examinations per patient) were analyzed. A total of 5798 MRI reports of 4821 patients were evaluated. A total of 95 patients (1.97%) suffered from claustrophobia and 59 (1.22%) prematurely terminated the examination due to claustrophobia. The incidence of ptMRI was higher in women than men (no statistical significance). The majority of patients with ptMRI were between 20 and 80 years old. Patients undergoing head MRI showed the highest incidence of ptMRI and those undergoing extremity, breast, or pelvic MRI had the lowest. Prone compared to supine positioning results in the lowest ptMRI incidence (P < 0.05). Claustrophobic reactions cause a relatively low incidence of ptMRI and are influenced by sex, body part examined, and positioning within the MR scanner. Sedation and prone positioning might help overcome these reactions. (c) 2007 Wiley-Liss, Inc.

  4. Science beyond boundary: are premature discoveries things of the past?

    Science.gov (United States)

    Singh, Rama S

    2016-06-01

    Mendel's name more than of any other draws our attention to the personal side in terms of success and failure in science. Mendel lived 19 years after presenting his research findings and died without receiving any recognition for his work. Are premature discoveries things of the past, you may ask? I review the material basis of science in terms of science boundary and field accessibility and analyze the possibility of premature discoveries in different fields of science such as, for example, physics and biology. I conclude that science has reached a stage where progress is being made mostly by pushing the boundary of the known from inside than by leaping across boundaries. As more researchers become engaged in science, and as more publications become open access, on-line, and interactive, the probability of an important discovery remaining buried and going unrecognized would become exceedingly small. Of course, as examples from physics show, a new theory or an important idea can always lie low, unrecognized until it becomes re-discovered and popularized by other researchers. Thus, premature discoveries will become less likely but not forbidden.

  5. The Impact of Premature Childbirth on Parental Bonding

    Directory of Open Access Journals (Sweden)

    Hannah N. Hoffenkamp

    2012-07-01

    Full Text Available The development of an affectionate parent-infant bond is essential for a newborn infant's survival and development. However, from evolutionary theory it can be derived that parental bonding is not an automatic process, but dependent on infants' cues to reproductive potential and parents' access to resources. The purpose of the present study was to examine the process of bonding in a sample of Dutch mothers (n = 200 and fathers (n = 193 of full-term (n = 69, moderately premature (n = 68, and very premature infants (n = 63. During the first month postpartum parents completed the Pictorial Representation of Attachment Measure (PRAM and Postpartum Bonding Questionnaire (PBQ. Longitudinal analyses revealed that mothers' PRAM scores decreased after moderately preterm delivery, whereas decreases in PRAM scores occurred in both parents after very preterm delivery. As lower PRAM scores represent stronger feelings of parent-infant connectedness, our findings suggest a higher degree of bonding after premature childbirth. Results of the PBQ analysis were in line with PRAM outcomes, as parents of preterm infants reported less bonding problems compared to parents of full-terms. These findings support the hypothesis that in affluent countries with adequate resources, bonding in parents of preterm infants on average may be higher than in parents of full-term infants.

  6. Predictors of premature discontinuation of treatment in multiple disease states

    Directory of Open Access Journals (Sweden)

    Eric Nantz

    2009-01-01

    Full Text Available Eric Nantz1, Hong Liu-Seifert2, Vladimir Skljarevski21Department of Statistics, Western Michigan University, Kalamazoo, MI, USA; 2Lilly Research Laboratories, Eli Lilly and Company, Indianapolis, IN, USABackground: Premature discontinuation of treatment impacts outcomes of clinical practice. The traditional perception has been patient discontinuation is mainly driven by unwanted side effects. Systematic analysis of data from clinical trials across several disease states was performed to identify predictors of premature discontinuation during clinical interventions.Methods: A post hoc analysis was conducted on 22 randomized, double-blind, placebo-controlled clinical trials for treatment of fibromyalgia, diabetic peripheral neuropathic pain, major depressive disorder, and generalized anxiety disorder. Analyses were conducted on pooled data within each disease state.Results: Lack of early therapeutic response was a significant predictor of patient discontinuation in each disease state. Visit-wise changes in therapeutic response and severity of adverse events were also significant risk factors, with change in therapeutic response having a higher significance level in three disease states. Patients who discontinued due to adverse events had similar therapeutic responses as patients completing treatment.Conclusion: Contrary to the conventional belief that premature treatment discontinuation is primarily related to adverse events, our findings suggest lack of therapeutic response also plays a significant role in patient attrition. This research highlights the importance of systematic monitoring of therapeutic response in clinical practice as a measure to prevent patients’ discontinuation from pharmacological treatments.Keywords: attrition, depression, generalized anxiety disorder, fibromyalgia, therapeutic response, adverse event

  7. The relationship between pregnancy, preterm and premature delivery

    Directory of Open Access Journals (Sweden)

    Soleymani-e- Shayesteh Y

    2002-06-01

    Full Text Available During pregnancy, different froms of periodontal disease such as pregnancy gingivitis, pregnancy tumors, pregnancy stomatitis, may be encountered. But the most considerable point is the pregnant women's infection with periodontal disease and its effect on delivery and weight of newborn infants. Based on the latest researches and statistics, it is concluded that periodontal disease is an important risk factor, leading to preterm or premature delivery. On the other hand, poor hygiene, should be considered as another danger, resulting in premature delivery. Besides, the presence of a collection of oral fosobacteria in ammoniutic fluid in mothers with premature delivery, increases the probability of an oral- haematogenous connection. Moreover, prostaglandin E2, in cervicular fluid, has been considered as an index for periodontal disease activity and loss of weight at the time of birth. These findings suggest that effective steps, to prevent preterm delivery, can be taken, if women, genycologists and dentists have enough knowledge. This article focuses on the special supervision that is required to prevent the effects of hormonal changes on periodontal tissues and conversely to reduce systemic disorders resulting from periodontal disease, in pregnant woman.

  8. Premature ovarian failure (POF in Brazilian fragile X carriers

    Directory of Open Access Journals (Sweden)

    Angela M. Vianna-Morgante

    1999-12-01

    Full Text Available The gynecological and reproductive histories of 193 women from fragile X families were surveyed. Among the 101 carriers of the premutation, 14 experienced premature menopause, contrarily to their 37 fully mutated and 55 noncarrier female relatives. Although premature menopause showed a tendency to cluster in certain fragile X families, as a group, the premutated women experienced menopause earlier than noncarriers. This suggests that premature menopause may be the extreme effect of a spectrum of ovarian anomalies associated with the fragile X premutation.Entrevistamos 193 mulheres de famílias com afetados pela síndrome do cromossomo X frágil, quanto a sua história ginecológica e reprodutiva. Entre as 101 portadoras da pré-mutação, 14 tiveram menopausa precoce, mas nenhuma das 37 portadoras da mutação completa ou das 55 não portadoras apresentaram esta anomalia. Observamos uma tendência para a concentração da menopausa precoce em certas famílias, o que poderia significar uma peculiariedade de certas pré-mutações. Entretanto, o fato de as mulheres pré-mutadas tenderem a entrar em menopausa mais cedo do que as não portadoras sugere que a menopausa precoce seja o extremo do espectro de efeitos ovarianos da pré-mutação.

  9. Geometrical destabilization, premature end of inflation and Bayesian model selection

    Science.gov (United States)

    Renaux-Petel, Sébastien; Turzyński, Krzysztof; Vennin, Vincent

    2017-11-01

    By means of Bayesian techniques, we study how a premature ending of inflation, motivated by geometrical destabilization, affects the observational evidences of typical inflationary models. Large-field models are worsened, and inflection point potentials are drastically improved for a specific range of the field-space curvature characterizing the geometrical destabilization. For other models we observe shifts in the preferred values of the model parameters. For quartic hilltop models for instance, contrary to the standard case, we find preference for theoretically natural sub-Planckian hill widths. Eventually, the Bayesian ranking of models becomes substantially reordered with a premature end of inflation. Such a phenomenon also modifies the constraints on the reheating expansion history, which has to be properly accounted for since it determines the position of the observational window with respect to the end of inflation. Our results demonstrate how the interpretation of cosmological data in terms of fundamental physics is considerably modified in the presence of premature end of inflation mechanisms.

  10. Premature Calcifications of Costal Cartilages: A New Perspective

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    Walter Rhomberg

    2014-01-01

    Full Text Available Background. Calcifications of the costal cartilages occur, as a rule, not until the age of 30 years. The knowledge of the clinical significance of early and extensive calcifications is still incomplete. Materials and Methods. A search was made to find patients below the age of 30 years who showed distinct calcifications of their lower costal cartilages by viewing 360 random samples of intravenous pyelograms and abdominal plain films. The histories, and clinical and laboratory findings of these patients were analyzed. Results. Nineteen patients fulfilled the criteria of premature calcifications of costal cartilages (CCCs. The patients had in common that they were frequently referred to a hospital and were treated by several medical disciplines. Nevertheless many complaints of the patients remained unsolved. Premature CCCs were often associated with rare endocrine disorders, inborn errors of metabolism, and abnormal hematologic findings. Among the metabolic disorders there were 2 proven porphyrias and 7 patients with a suspected porphyria but with inconclusive laboratory findings. Conclusion. Premature CCCs are unlikely to be a normal variant in skeletal radiology. The findings in this small group of patients call for more intensive studies, especially in regard to the putative role of a porphyria.

  11. The relation between oxygen saturation level and retionopathy of prematurity

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    Mohammad Gharavi Fard

    2016-03-01

    Full Text Available Introduction: Oxygen therapy used for preterm infant disease might be associated with oxygen toxicity or oxidative stress. The exact oxygen concentration to control and maintain the arterial oxygen saturation balance is not certainly clear. We aimed to compare the efficacy of higher or lower oxygen saturations on the development of severe retinopathy of prematurity which is a major cause of blindness in preterm neonates. Methods: PubMed was searched for obtaining the relevant articles. A total of seven articles were included after studying the titles, abstracts, and the full text of retrieved articles at initial search. Inclusion criteria were all the English language human clinical randomized controlled trials with no time limitation, which studied the efficacy of low versus high oxygen saturation measured by pulse oximetry in preterm infants.Result: It can be suggested that lower limits of oxygen saturations have higher efficacy at postmesetural age of ≤28 weeks in preterm neonates. This relation has been demonstrated in five large clinical trials including three Boost trials, COT, and Support.Discussion: Applying higher concentrations of oxygen supplementations at mesentural age ≥32 weeks reduced the development of retinopathy of prematurity. Lower concentrations of oxygen saturation decreased the incidence and the development of retinopathy of prematurity in preterm neonates while applied soon after the birth.Conclusions: Targeting levels of oxygen saturation in the low or high range should be performed cautiously with attention to the postmesentural age in preterm infants at the time of starting the procedures.

  12. Premature ovarian failure risk factors in an Iranian population

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    Ghassemzadeh A

    2012-04-01

    Full Text Available Alieh Ghassemzadeh1,2, Laya Farzadi1,2, Elaheh Beyhaghi1,21Women’s Reproductive Health Research Center, Tabriz University of Medical Sciences, Tabriz, Iran; 2Alzahra University Hospital, Department of Obstetrics and Gynecology, Tabriz University of Medical Sciences, Tabriz, IranBackground: The aim of this study was to determine possible correlates of premature ovarian failure (POF in an Iranian population.Methods: In a case-control study, 80 patients with POF were compared with 80 controls enrolled from the same setting during 2007–2008. A food diary was used to assess food consumption habits.Results: Mean age of starting ovarian failure symptoms was 19.3 ± 5.7 years and mean age of menopause was 22.6 ± 6.3 years. Familial coincidence was observed in 16 POF patients versus no one in the control group (P < 0.05. POF patients had lower frequency of both eating red meat and fish when compared with controls (P < 0.001. POF and control subjects consumed similar amounts of dairy products, being 5.3 ± 3.2 times per week in POF and 5.6 ± 2.1 times in the control groups.Conclusion: In this study, an association between POF and lower red meat or fish consumption was found.Keywords: POF, etiology, case-control, nutrition, premature menopause, premature ovarian dysfunction, primary ovarian insufficiency

  13. Transient and distortion product evoked otoacoustic emissions in premature infants

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    Oliveira, Carlos Augusto Costa Pires de

    2009-09-01

    Full Text Available Introduction: The correlation between the transient (TEOE and distortion product (DPOAE evoked otoacoustic emissions may be useful for the neonatal auditory screening, mainly in premature infants, who have risk indicators for hearing deficiency. There is need for deepening the knowledge regarding this population cochlea features. Objective: To compare the TEOE and DPOAE in premature infants. To analyze the reproducibility in the TEOE, the amplitude and the sign/noise ratio in the TEOE and DPOAE. Method: TEOE and DPOAE were carried out in 50 premature infants. The tests were correlated as for the criterion "pass/failure" and compared according to amplitude and sign/noise ratio parameters. Results: The TEOE were present in 71% of the sample. The frequency of 3kHz presented a better performance in the average reproducibility, amplitude and sign/noise ratio. The DPOAE were present in 97% of the sample. The frequency of 2kHz had a major average amplitude, the values of the sign/noise ratio increased proportionally in the high frequencies. There was a strong correlation between TEOE and DPOAE in the "pass/failure" criterion (p=0.006. Conclusion: The correlation between the TEOE and DPOAE results was significant. But one method compliments the other and both may be used in the TAN.

  14. Social representations of premature birth from the perspective of individuals born preterm in the 1990s.

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    Leavy, Pía; Violeta Prina, Martina; Martínez Cáceres, María José; Bauer, Gabriela

    2015-01-01

    Prematurity is a public health problem that calls to focus on its causes and consequences through a trans disciplinary approach. There are no studies analyzing premature birth from the perspective of individuals born preterm. To identify social representations associated with premature birth of individuals born preterm in the 1990s in Argentina. Twelve focus groups were conducted with individuals born preterm with a birth weightPrematurity is a significant element, especially in those who suffered major sequelae. Adolescents and youth give a warning on the negative effects caused by overprotective parents and reveal the possibility of redefining the challenges associated with their history of premature birth.

  15. [Non syndromic craniosynostosis].

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    Bennis, Y; Wolber, A; Vinchon, M; Belkhou, A; Duquennoy-Martinot, V; Guerreschi, P

    2016-10-01

    Craniosynostosis are rare congenital malformations of the skull resulting from the premature fusion of one or several cranial sutures. Prevalence is considered in approximately 1 on 2000 births. Non syndromic craniosynostosis (NSC) or isolated form are the most frequent forms (85 % of the cases). They are classified most of the time according to the synostotic suture(s) and the engendered cranial deformation: sagittal synostosis or scaphocephaly, metopic synostosis or trigonocephaly, bicoronal synostosis or brachycephaly, coronal synostosis or plagiocephaly and oxycephaly. Although the multifactorial origin is commonly admitted, the precise mechanisms which lead to the premature fusion of a suture, remain incompletely resolute. The main risks are the intracranial high blood pressure and its consequences on the psychomotor development, the visual or respiratory infringement which can require a surgery in emergency. The treatment is realized by multidisciplinary teams allowing to provide a strategy adapted to every situation. The decision-making process depends on patient's age, on the type and severity of the craniosynostosis, and on the patient's health. This surgery is ideally performed before the age of 1 year and indication only in morphological purpose is widely recognized to avoid any social damage to the child. The follow-up is essential and is made throughout the growth in particular to detect a recurrence or the evolution towards a complex form of craniosynostosis. Copyright © 2016 Elsevier Masson SAS. All rights reserved.

  16. Serbia within the European context: An analysis of premature mortality

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    Marinkovic Jelena

    2009-08-01

    Full Text Available Abstract Background Based on the global predictions majority of deaths will be collectively caused by cancer, cardiovascular diseases, and traffic accidents over the coming 25 years. In planning future national health policy actions, inter – regional assessments play an important role. The purpose of the study was to analyze similarities and differences in premature mortality between Serbia, EURO A, EURO B, and EURO C regions in 2000. Methods Mortality and premature mortality patterns were analysed according to cause of death, by gender and seven age intervals. The study results are presented in relative (% and absolute terms (age-specific and age-standardized death rates per 100,000 population, and age-standardized rates of years of life lost – YLL per 1,000. Direct standardization of rates was undertaken using the standard population of Europe. The inter-regional comparison was based on a calculation of differences in YLL structures and with a ratio of age-standardized YLL rates per 1,000. A multivariate generalized linear model was used to explore mortality of Serbia and Europe sub-regions with ln age-specific death rates. The dissimilarity was achieved with a p ≤ 0.05. Results According to the mortality pattern, Serbia was similar to EURO B, but with a lower average YLL per death case. YLL patterns indicated similarities between Serbia and EURO A, while SRR YLL had similarities between Serbia and EURO B. Compared to all Europe sub-regions, Serbia had a major excess of premature mortality in neoplasms and diabetes mellitus. Serbia had lost more years of life than EURO A due to cardiovascular, genitourinary diseases, and intentional injuries. Yet, Serbia was not as burdened with communicable diseases and injuries as were EURO B and EURO C. Conclusion With a premature mortality pattern, Serbia is placed in the middle position of the Europe triangle. The main excess of YLL in Serbia was due to cardiovascular, malignant diseases, and

  17. Extrauterine growth restriction: Universal problem among premature infants

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    Brunnella Alcantara Chagas de FREITAS

    2016-02-01

    Full Text Available ABSTRACT Objective: To analyze the growth rate of premature infants in the first weeks of life and factors associated with extrauterine growth restriction. Methods: This is a cross-sectional study of 254 premature infants in a neonatal intensive care unit conducted from January 1, 2008 to December 31, 2010. Infants who died or had malformations incompatible with life were excluded. Median weight curves according to gestational age were constructed for the first four weeks of life. The Fenton growth chart calculations provided the weight Z-scores. Extrauterine growth restriction was defined as corrected weight-for-age Z-score ≤-2. Perinatal, morbidity, and health care variables were analyzed. The Poisson regression model yielded the prevalenceratios . Associations between extrauterine growth restriction and the perinatal, morbidity, and care variables were investigated. Poisson regression controlled possible confounding factors. Results: The frequency of extrauterine growth restriction was 24.0%. Most (85.0% small-for-gestational-age infants developed extrauterine growth restriction; 55.3% of extrauterine growth restriction cases involved small-for-gestational-age infants. Premature infants with gestational age >32 weeks did not recover the median birth weight until the third week of life and had a higher frequency of small-for-gestational-age. The Z-scores of non-small-for-gestational-age infants decreased more after birth than those of small-for-gestational-age infants. extrauterine growth restriction was associated with small-for-gestational-age (PR=6.14; 95%CI=3.33-11.33;p <0.001 and time without enteral diet (PR=1.08; 95%CI=1.04-1.13; p =0.010. Conclusion: Extrauterine growth restriction occurs in premature infants of all gestational age. The participation of small-for-gestational-age and nutritional practices in its genesis is noteworthy. We suggest prospective studies of all premature infants. The implementation of best care practices

  18. SOME OF THE RISK FACTORS FOR RETINOPATHY OF PREMATURITY

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    Gordana Stanković – Babić

    2014-09-01

    Full Text Available Retinopathy of prematurity (ROP remains the main cause of visual impairment in preterm infants. The study was aimed to assess the impact of some of the risk factors (gestational age, body weight of children at birth, associated diseases in children, maternal age at delivery, maternal smoking during pregnancy, multiple pregnancies on the occurrence of ROP in the sample of premature infants. We statistically processed the results (Student’s t test and the χ2 test of 93 preterm infants of both sexes: 39 boys and 54 girls, examined by indirect ophthalmoscope (Haine 500, Germany in mydriasis. The examination included all premature neonates with birth weight ≤ 2000g and/or gestational age ≤37 weeks, as well as neonates >37 weeks which have associated risk factors (oxygen, ventilation, sepsis, etc. Among 93 premature infants, with normal findings on the retina there were 72 children (77.42%, while in 21 (22.58% children we found ROP. Ophthalmological findings: the first stage of ROP was found in 15.05%, the second stage of ROP in 2.15% and third stage of ROP in 5.38% of the examined children. There were no patients with an aggressive form of ROP. Children with ROP were statistically of lower gestational age - 32.10 ± 2.70 compared to children without ROP - 35.37 ± 1.72 (p<0.001. Children with ROP had at birth significant lower body weight of 1741g ± 579.19 than children without ROP - 2168.75 ± 528.58 (p<0.01. Mothers of the children with ROP were, at the time of giving birth, over 29 ± 6.09 years old compared to mothers of children without ROP who were 26.42 ± 5.75 years old (p=0.0773. The presence of other diseases was significantly more prevalent in children with ROP 52.38% vs. 2.78% (p<0.001. The number of mothers of children with ROP who smoked during their pregnacy was considerable - 57.14 % vs. 37.50% (percent of non-smoking mothers, though the difference was not statistically significant. Knowing the risk factors and their

  19. Clinical management of hereditary colorectal cancer syndromes.

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    Vasen, Hans F A; Tomlinson, Ian; Castells, Antoni

    2015-02-01

    Hereditary factors are involved in the development of a substantial proportion of all cases of colorectal cancer. Inherited forms of colorectal cancer are usually subdivided into polyposis syndromes characterized by the development of multiple colorectal polyps and nonpolyposis syndromes characterized by the development of few or no polyps. Timely identification of hereditary colorectal cancer syndromes is vital because patient participation in early detection programmes prevents premature death due to cancer. Polyposis syndromes are fairly easy to recognize, but some patients might have characteristics that overlap with other clinically defined syndromes. Comprehensive analysis of the genes known to be associated with polyposis syndromes helps to establish the final diagnosis in these patients. Recognizing Lynch syndrome is more difficult than other polyposis syndromes owing to the absence of pathognomonic features. Most investigators therefore recommend performing systematic molecular analysis of all newly diagnosed colorectal cancer using immunohistochemical methods. The implementation in clinical practice of new high-throughput methods for molecular analysis might further increase the identification of individuals at risk of hereditary colorectal cancer. This Review describes the clinical management of the various hereditary colorectal cancer syndromes and demonstrates the advantage of using a classification based on the underlying gene defects.

  20. Williams syndrome

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    A support group can be helpful for emotional support and for giving and receiving practical advice. The following organization provides additional information about Williams Syndrome: Williams Syndrome Association -- www.williams-syndrome.org