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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. Recapitulation of premature ageing with iPSCs from Hutchinson-Gilford progeria syndrome.

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    Liu, Guang-Hui; Barkho, Basam Z; Ruiz, Sergio; Diep, Dinh; Qu, Jing; Yang, Sheng-Lian; Panopoulos, Athanasia D; Suzuki, Keiichiro; Kurian, Leo; Walsh, Christopher; Thompson, James; Boue, Stephanie; Fung, Ho Lim; Sancho-Martinez, Ignacio; Zhang, Kun; Yates, John; Izpisua Belmonte, Juan Carlos

    2011-04-14

    Hutchinson-Gilford progeria syndrome (HGPS) is a rare and fatal human premature ageing disease, characterized by premature arteriosclerosis and degeneration of vascular smooth muscle cells (SMCs). HGPS is caused by a single point mutation in the lamin A (LMNA) gene, resulting in the generation of progerin, a truncated splicing mutant of lamin A. Accumulation of progerin leads to various ageing-associated nuclear defects including disorganization of nuclear lamina and loss of heterochromatin. Here we report the generation of induced pluripotent stem cells (iPSCs) from fibroblasts obtained from patients with HGPS. HGPS-iPSCs show absence of progerin, and more importantly, lack the nuclear envelope and epigenetic alterations normally associated with premature ageing. Upon differentiation of HGPS-iPSCs, progerin and its ageing-associated phenotypic consequences are restored. Specifically, directed differentiation of HGPS-iPSCs to SMCs leads to the appearance of premature senescence phenotypes associated with vascular ageing. Additionally, our studies identify DNA-dependent protein kinase catalytic subunit (DNAPKcs, also known as PRKDC) as a downstream target of progerin. The absence of nuclear DNAPK holoenzyme correlates with premature as well as physiological ageing. Because progerin also accumulates during physiological ageing, our results provide an in vitro iPSC-based model to study the pathogenesis of human premature and physiological vascular ageing.

  4. 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.

  5. 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.

  6. Immortalization of Werner syndrome and progeria fibroblasts

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    Saito, H.; Moses, R.E.

    1991-01-01

    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

  7. 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.

  8. 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.)

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

    International Nuclear Information System (INIS)

    Cleveland, Robert H.; Gordon, Leslie B.; Kleinman, Monica E.; Miller, David T.; Gordon, Catherine M.; Snyder, Brian D.; Nazarian, Ara; Giobbie-Hurder, Anita; Neuberg, Donna; Kieran, Mark W.

    2012-01-01

    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.)

  10. Genetics Home Reference: Hutchinson-Gilford progeria syndrome

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    ... mutant lamin A causes progressive changes in nuclear architecture in Hutchinson-Gilford progeria syndrome. Proc Natl Acad ... Health & Human Services National Institutes of Health National Library of Medicine Lister Hill National Center for Biomedical ...

  11. Leg ulcer in Werner syndrome (adult progeria): a case report.

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    Fumo, Giuseppe; Pau, Monica; Patta, Federico; Aste, Nicola; Atzori, Laura

    2013-03-15

    Werner syndrome (WS; MIM#277700) or adult progeria, is a rare disease, associated with mutations of a single gene (RECQL2 or WRN), located on chromosome 8 (8p12). It codes a DNA-helicase, whose defects cause genomic instability. The highest incidences are reported in Japan and Sardinia (Italy). On this major island of the Mediterranean Basin, the WS cases have been observed in the northern areas. The authors describe the apparently first case reported in southern Sardinia, a 51-year-old woman, who was born in and resides in the province of Cagliari. She presented with a 9-year history of an intractable leg ulcer and other characteristic symptoms, including "bird-like" face, high-pitched voice, premature greying, short stature, abdominal obesity in contrast with thin body type, scleroderma-like legs, decreased muscle mass, diabetes, atherosclerosis, and premature menopause. A specialized genetic Institute of Research (IRCCS-IDI, Rome) confirmed the clinical diagnosis. There is no cure or specific treatment and patients must be periodically screened for an increased risk of cardiovascular and cerebrovascular disease and malignancies. Among the many findings, leg ulcers significantly affect the patient's quality of life. This problem may send the patient to the dermatologist, who finally suspects the diagnosis. Poor response to medical treatment may require aggressive repeated surgery, with poor or temporary results.

  12. 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

  13. Sporadic Premature Aging in a Japanese Monkey: A Primate Model for Progeria

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

    2014-01-01

    In our institute, we have recently found a child Japanese monkey who is characterized by deep wrinkles of the skin and cataract of bilateral eyes. Numbers of analyses were performed to identify symptoms representing different aspects of aging. In this monkey, the cell cycle of fibroblasts at early passage was significantly extended as compared to a normal control. Moreover, both the appearance of senescent cells and the deficiency in DNA repair were observed. Also, pathological examination showed that this monkey has poikiloderma with superficial telangiectasia, and biochemical assay confirmed that levels of HbA1c and urinary hyaluronan were higher than those of other (child, adult, and aged) monkey groups. Of particular interest was that our MRI analysis revealed expansion of the cerebral sulci and lateral ventricles probably due to shrinkage of the cerebral cortex and the hippocampus. In addition, the conduction velocity of a peripheral sensory but not motor nerve was lower than in adult and child monkeys, and as low as in aged monkeys. However, we could not detect any individual-unique mutations of known genes responsible for major progeroid syndromes. The present results indicate that the monkey suffers from a kind of progeria that is not necessarily typical to human progeroid syndromes. PMID:25365557

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

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    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.

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

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    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.

  16. Importance of molecular cell biology investigations in human medicine in the story of the Hutchinson-Gilford progeria syndrome

    Czech Academy of Sciences Publication Activity Database

    Raška, Ivan

    2010-01-01

    Roč. 3, č. 3 (2010), s. 89-93 ISSN 1337-6853 Grant - others:GA MŠk(CZ) LC535 Program:LC Institutional research plan: CEZ:AV0Z50110509 Keywords : laminopathies * Hutchinson-Gilford progeria syndrome * progerin Subject RIV: EA - Cell Biology

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

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

    2015-01-01

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

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

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    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.

  19. Progeria 101/FAQ

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    ... Progeria, but also may shed light on the phenomenon of aging and cardiovascular disease.” v “Recurrent de ... Statistics Is Progeria passed down from parent to child? HGPS is not usually passed down in families. ...

  20. Progeria in siblings: A rare case report

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    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.

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

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    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.

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

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    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.

  3. Physical Therapy and Occupational Therapy in Progeria

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    Physical Therapy and Occupational Therapy in Progeria Information for Families and Caretakers from The Progeria Research Foundation ... Inc. All rights reserved. Page 2 of 5 Physical and Occupational Therapy in Progeria Hutchinson-Gilford Progeria ...

  4. 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...... in the stratum corneum and stratum granulosum. Diagnosing this syndrome is important to reassure parents, obstetricians, and pediatricians about its benign course after complications in the perinatal period....

  5. Bartter syndrome: presentation in an extremely premature neonate.

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    Flores, F X; Ojeda, F J; Calhoun, D A

    2013-08-01

    Reports of Bartter syndrome in premature neonates are rare. We describe the presentation and clinical course of a neonate born at 25.6 weeks estimated gestational age with polyuria, hyponatremia, hypokalemia and hypercalciuria ,who was diagnosed with neonatal Bartter syndrome. The evaluation, diagnosis and management of neonatal Bartter syndrome in this premature neonate are discussed.

  6. Labor Market Progeria.

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    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)

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

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    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

  8. Abnormal nuclear morphology is independent of longevity in a zmpste24-deficient fish model of Hutchinson-Gilford progeria syndrome (HGPS).

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    Tonoyama, Yasuhiro; Shinya, Minori; Toyoda, Atsushi; Kitano, Takeshi; Oga, Atsunori; Nishimaki, Toshiyuki; Katsumura, Takafumi; Oota, Hiroki; Wan, Miles T; Yip, Bill W P; Helen, Mok O L; Chisada, Shinichi; Deguchi, Tomonori; Au, Doris W T; Naruse, Kiyoshi; Kamei, Yasuhiro; Taniguchi, Yoshihito

    2018-07-01

    Lamin is an intermediate protein underlying the nuclear envelope and it plays a key role in maintaining the integrity of the nucleus. A defect in the processing of its precursor by a metalloprotease, ZMPSTE24, results in the accumulation of farnesylated prelamin in the nucleus and causes various diseases, including Hutchinson-Gilford progeria syndrome (HGPS). However, the role of lamin processing is unclear in fish species. Here, we generated zmpste24-deficient medaka and evaluated their phenotype. Unlike humans and mice, homozygous mutants did not show growth defects or lifespan shortening, despite lamin precursor accumulation. Gonadosomatic indices, blood glucose levels, and regenerative capacity of fins were similar in 1-year-old mutants and their wild-type (WT) siblings. Histological examination showed that the muscles, subcutaneous fat tissues, and gonads were normal in the mutants at the age of 1 year. However, the mutants showed hypersensitivity to X-ray irradiation, although p53target genes, p21 and mdm2, were induced 6 h after irradiation. Immunostaining of primary cultured cells from caudal fins and visualization of nuclei using H2B-GFP fusion proteins revealed an abnormal nuclear shape in the mutants both in vitro and in vivo. The telomere lengths were significantly shorter in the mutants compared to WT. Taken together, these results suggest that zmpste24-deficient medaka phenocopied HGPS only partially and that abnormal nuclear morphology and lifespan shortening are two independent events in vertebrates. Copyright © 2018 The Author(s). Published by Elsevier Inc. All rights reserved.

  9. Congenital staphylococcal scalded skin syndrome in a premature infant

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

    2004-01-01

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

  10. Shared molecular and cellular mechanisms of premature ageing and ageing-associated diseases.

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    Kubben, Nard; Misteli, Tom

    2017-10-01

    Ageing is the predominant risk factor for many common diseases. Human premature ageing diseases are powerful model systems to identify and characterize cellular mechanisms that underpin physiological ageing. Their study also leads to a better understanding of the causes, drivers and potential therapeutic strategies of common diseases associated with ageing, including neurological disorders, diabetes, cardiovascular diseases and cancer. Using the rare premature ageing disorder Hutchinson-Gilford progeria syndrome as a paradigm, we discuss here the shared mechanisms between premature ageing and ageing-associated diseases, including defects in genetic, epigenetic and metabolic pathways; mitochondrial and protein homeostasis; cell cycle; and stem cell-regenerative capacity.

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

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    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

  12. Nanostructure of Red Blood Cell Membranes in Premature Neonates with Respiratory Distress Syndrome

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    S. A. Perepelitsa

    2013-01-01

    Full Text Available Objective: to study the nanostructure of red blood cell membranes in premature babies with neonatal respiratory distress syndrome (NRDS, by applying atomic force microscopy. Subjects and methods. The investigation included 27 newborn infants, of them 13 premature babies with NRDS formed a study group. The mean gestational age was 33.1±2.3 weeks; their birth weight was 1800±299.3 g. A comparison group consisted of 14 full-term babies with favorable pregnancy and term labor. The mean gestational age of the babies was 39.4±0.5 weeks; their birth weight was 3131.7±588.8 g; the infants had a one minute Apgar score of 8±0.4. Their red blood cells were examined using an atomic force microscope. The objects to be examined were residual umbilical cord blood (RUCB from the premature infants; central venous blood after 7 hours of birth and neonatal venous blood taken on day 7 of life. Results. RUCB from full-term babies contained planocytes that were a major morphological type of red blood cells. In physiological pregnancy and acute fetal hypoxia, the morphological composition of red blood cells in premature neonates with NRDS was close to that in full-term babies. The planocytes are also a major morphological type of red blood cells in the premature infants; the frequency of their occurrence varies. Stomatocytes are typical of all the neonates in the NRDS group; their frequency levels vary greatly: from 8 to 65% of the total number of erythrocytes. The examination revealed that the premature infants of 31—36 weeks gestation were characterized by abnormal erythrocyte shapes that showed a high variability. At birth, the premature babies were found to have changes in the nanostructure of red blood cell membranes, which were influenced by intrauterine hypoxia. The first-order value reflecting flickering in the red blood cell membrane varies to the most extent. Conclusion. Atomic force microscopy showed that the greatest changes in the structure of red

  13. Woolly hair, premature loss of teeth, nail dystrophy, acral hyperkeratosis and facial abnormalities: possible new syndrome in a Dutch kindred.

    NARCIS (Netherlands)

    Steensel, M.A.M. van; Koedam, M.I.; Swinkels, O.Q.J.; Rietveld, F.J.R.; Steijlen, P.M.

    2001-01-01

    We describe a Dutch kindred with a possibly novel dominant syndrome of premature loss of curly, brittle hair, premature loss of teeth due to caries, nail dystrophy and acral keratoderma. We discuss the possibility that this ectodermal dysplasia of group 1-2-3-4 is a variant of known disorders such

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

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    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.

  15. Premature infant

    Science.gov (United States)

    ... matter Infection or neonatal sepsis Low blood sugar (hypoglycemia) Neonatal respiratory distress syndrome, extra air in the tissue ... Outlook (Prognosis) Prematurity used to be a major cause of infant deaths. Improved medical and nursing techniques ...

  16. Boosting ATM activity alleviates aging and extends lifespan in a mouse model of progeria.

    Science.gov (United States)

    Qian, Minxian; Liu, Zuojun; Peng, Linyuan; Tang, Xiaolong; Meng, Fanbiao; Ao, Ying; Zhou, Mingyan; Wang, Ming; Cao, Xinyue; Qin, Baoming; Wang, Zimei; Zhou, Zhongjun; Wang, Guangming; Gao, Zhengliang; Xu, Jun; Liu, Baohua

    2018-05-02

    DNA damage accumulates with age (Lombard et al., 2005). However, whether and how robust DNA repair machinery promotes longevity is elusive. Here, we demonstrate that ATM-centered DNA damage response (DDR) progressively declines with senescence and age, while low dose of chloroquine (CQ) activates ATM, promotes DNA damage clearance, rescues age-related metabolic shift, and prolongs replicative lifespan. Molecularly, ATM phosphorylates SIRT6 deacetylase and thus prevents MDM2-mediated ubiquitination and proteasomal degradation. Extra copies of Sirt6 extend lifespan in Atm-/- mice, with restored metabolic homeostasis. Moreover, the treatment with CQ remarkably extends lifespan of Caenorhabditis elegans , but not the ATM-1 mutants. In a progeria mouse model with low DNA repair capacity, long-term administration of CQ ameliorates premature aging features and extends lifespan. Thus, our data highlights a pro-longevity role of ATM, for the first time establishing direct causal links between robust DNA repair machinery and longevity, and providing therapeutic strategy for progeria and age-related metabolic diseases. © 2018, Qian et al.

  17. Premature aging of cardiovascular/platelet function in polycystic ovarian syndrome.

    Science.gov (United States)

    Chan, Wai Ping A; Ngo, Doan T; Sverdlov, Aaron L; Rajendran, Sharmalar; Stafford, Irene; Heresztyn, Tamila; Chirkov, Yuliy Y; Horowitz, John D

    2013-07-01

    The objective of this study was to compare the impact of aging on nitric oxide (NO) modulation of platelet and vascular function in healthy women and women with polycystic ovary syndrome. A case-control study of women ages 18 to 60 years, comparing women with polycystic ovarian syndrome against age-matched healthy controls, was performed. A total of 242 women, of whom 109 had polycystic ovarian syndrome (based on Rotterdam criteria), participated in the study. Women who were pregnant or on clopidogrel were excluded from the study. Inhibition of platelet aggregation by nitric oxide (primary outcome measure), vascular endothelial function, plasma concentrations of N(G), N(G)-dimethyl-L-arginine (ADMA), endothelial progenitor cell count, and high-sensitivity C-reactive protein (markers of endothelial dysfunction and inflammation) were assessed. With increasing age in control women, there was progressive attenuation of platelet responses to NO, impairment of endothelial function, and elevation of ADMA levels (P ≤.001). Irrespective of age, women with polycystic ovarian syndrome exhibited greater impairment of all these parameters (all P polycystic ovarian syndrome, these changes are present from early adult life and may contribute to premature atherogenesis. Copyright © 2013 Elsevier Inc. All rights reserved.

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

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    Patricia Fernandez

    2014-10-01

    Full Text Available Summary: 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. : The premature aging disorder Hutchinson-Gilford progeria syndrome (HGPS provides a unique tool 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. Using a genome-wide RNAi screen, Fernandez et al. now identify the bromodomain protein BRD4 as a mediator of the oncogenic resistance of HGPS cells. This tumor-protective function of BRD4 involves inhibition of oncogenic dedifferentiation and is also active in non-HGPS cells in a tissue-specific manner.

  19. FATP4 missense and nonsense mutations cause similar features in Ichthyosis Prematurity Syndrome

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    Dahl Niklas

    2011-03-01

    Full Text Available Abstract Background Ichthyosis Prematurity Syndrome (IPS is an autosomal recessive disorder characterized by premature birth, non-scaly ichthyosis and atopic manifestations. The disease was recently shown to be caused by mutations in the gene encoding the fatty acid transport protein 4 (FATP4 and a specific reduction in the incorporation of very long chain fatty acids (VLCFA into cellular lipids. Findings We screened probands from five families segregating IPS for mutations in the FATP4 gene. Four probands were compound heterozygous for four different mutations of which three are novel. Four patients were heterozygous and one patient homozygous for the previously reported non-sense mutation p.C168X (c.504c > a. All patients had clinical characteristics of IPS and a similar clinical course. Conclusions Missense mutations and non-sense mutations in FATP4 are associated with similar clinical features suggesting that missense mutations have a severe impact on FATP4 function. The results broaden the mutational spectrum in FATP4 associated with IPS for molecular diagnosis of and further functional analysis of FATP4.

  20. 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.

  1. 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.

  2. Relationship between premature ejaculation and chronic prostatitis/chronic pelvic pain syndrome.

    Science.gov (United States)

    Lee, Jun Ho; Lee, Sung Won

    2015-03-01

    Chronic prostatitis/chronic pelvic pain syndrome (CP/CPPS) is a common etiology of premature ejaculation (PE). However, the current data are insufficient to explain this relationship and to support routine screening of men with PE. This study aims to evaluate the relationship between PE and CP/CPPS. A cross-sectional study was conducted that included 8,261 men who had participated in a health examination. The Premature Ejaculation Diagnostic Tool (PEDT), the National Institutes of Health-Chronic Prostatitis Symptom Index (NIH-CPSI), and the International Index of Erectile Function-5 (IIEF) were used for assessment of symptoms. A full metabolic work-up and serum testosterone level checks were also performed. We then investigated the relationship using the Spearman correlation test, multiple linear regression, and logistic regression analyses. Associations of PEDT with NIH-CPSI. The mean age was 50.4 ± 5.5 years. In total, 2,205 (24.9%) men had prostatitis-like symptoms (NIH-CPSI pain score of ≥4 and perineal or ejaculatory pain), and 618 (7.0%) men had moderate to severe symptoms (NIH-CPSI pain score of ≥8). Additionally, 2,144 men (24.2%) were classified as demonstrating PE (PEDT > 10). The PEDT score was found to have a significant positive correlation with the NIH-CPSI pain domain score (correlation coefficient = 0.206; P prostatitis-like symptoms, OR for PE: 1.269, 95% confidence interval: 1.113-1.447; moderate to severe symptoms, OR for PE: 2.134: 95% confidence interval: 1.782-2.557). Our data showed a significant correlation between the PEDT score and the NIH-CPSI score. We suggest routine screening for CP/CPPS in men with PE and PE in men with CP/CPPS. © 2014 International Society for Sexual Medicine.

  3. Periodic limb movements and restless legs syndrome in children with a history of prematurity.

    Science.gov (United States)

    Cielo, Christopher M; DelRosso, Lourdes M; Tapia, Ignacio E; Biggs, Sarah N; Nixon, Gillian M; Meltzer, Lisa J; Traylor, Joel; Kim, Ji Young; Marcus, Carole L

    2017-02-01

    Little is known about the pediatric population at an increased risk of restless legs syndrome (RLS) and periodic limb movement disorder (PLMD). Polysomnographic data from the Caffeine for Apnea of Prematurity-Sleep (CAPS) study showed a high prevalence of elevated periodic limb movement index (PLMI) in a cohort of ex-preterm children, but the clinical importance of this finding, such as association with RLS, is unknown. We hypothesized that ex-preterm children would have a high prevalence of RLS and PLMD. Ex-preterm children enrolled in CAPS, now aged 5-12 years, completed home polysomnography (PSG) and standardized questionnaires. A diagnosis of RLS or PLMD was established by participants meeting the International Classification of Sleep Disorders, 3rd edition, criteria based on questionnaires and polysomnograms. The clinically available serum ferritin levels were assessed. In total, 167 participants underwent polysomnography and completed all questionnaires. The overall prevalence of RLS was 14/167 (8.4%). An additional 13 subjects (7.8%) were found to have PLMD. Of the 26 participants who had PLMI > 5/h, seven (26.9%) had RLS and 13 (50%) had PLMD. The serum ferritin levels were prematurity have a high prevalence of RLS, particularly those with elevated periodic limb movements. Iron deficiency likely contributes to RLS and PLMD symptoms in this population. Clinicians evaluating ex-preterm children with sleep disturbances should evaluate for RLS and PLMD. Further studies including serum ferritin evaluation are required to confirm these findings. Copyright © 2016 Elsevier B.V. All rights reserved.

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

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    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.

  5. [Reaven's metabolic syndrome X in the families of individuals with premature cerebrovascular attacks].

    Science.gov (United States)

    Vaverková, H; Ficker, L; Vlachová, I; Chudácková, J; Novotný, D; Budíková, M

    1993-08-01

    In families of subjects with premature ischaemic cerebrovascular attacks (a total of 45 families with 190 members) the authors detected a high incidence of dyslipidaemia, arterial hypertension, impaired glucose tolerance and non-insulin dependent diabetes mellitus, frequently with striking cumulation. The authors investigated therefore the relationship of the insulin level as an indirect reflection of insulin resistance with these risk factors. The fasting insulin levels correlated significantly positively with triglyceride levels, apolipoprotein B, atherogenic indices and negatively with HDL-cholesterol. The probands and siblings with arterial hypertension had significantly higher fasting insulin levels, as compared with subjects without hypertension which was due to a more frequent incidence of overweight. Patients with an impaired glucose tolerance and NIDDM had significantly higher fasting insulin levels and insulin levels after two hours (the latter value was not assessed in diabetes) and unfavourable "atherogenic" lipid and lipoprotein values, as compared with subjects without glucose intolerance and the control group. Overweight (BMI > 26) had an adverse impact on all investigated indicators of lipid and carbohydrate metabolism whereby a W/H ratio > 0.85 as a manifestation of central obesity further accentuated this adverse effect. The authors draw from these results therapeutic conclusions as regards the mentioned risk factors in these families. They emphasize the importance of non-pharmacological intervention of the metabolic X syndrome by weight reduction and more physical activity not only in families of subjects with early atherosclerosis but in the entire population which has a high prevalence of cardiovascular diseases.

  6. 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

  7. Comparison of the Therapeutic Effects of Bubble CPAP and Ventilator CPAP on Respiratory Distress Syndrome in Premature Neonates

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    Mahmoud Noori Shadkam

    2017-09-01

    Full Text Available Background: Respiratory distress syndrome is one of the main complications associated with low birth weight, and a main cause of mortality in premature neonates. The present study aimed to compare the efficacy of ventilator continuous positive airway pressure (CPAP and bubble CPAP in the treatment of respiratory distress syndrome (RDS in premature neonates. Methods: This randomized controlled clinical trial was conducted on 119 neonates diagnosed with RDS, with the gestational age of 28-34 weeks and birth weight of 1000-2200 grams, who were admitted in the neonatal intensive care unit (NICU. Infants were allocated to two groups of ventilator CPAP (VCPAP and bubble CPAP (BCPAP therapy. Results: Mean weight, gestational age, and one-minute Apgar score were not significantly different between the two groups. However, duration of treatment with mechanical ventilation in the BCPAP group was significantly lower compared to the VCPAP group. In addition, frequency of complications had no significant difference between the two groups. Conclusion: In the treatment of RDS, duration of mechanical ventilation was lower in the BCPAP group compared to the VCPAP group in premature neonates

  8. 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.

  9. Primary antiphospholipid syndrome: absence of premature atherosclerosis in patients without traditional coronary artery disease risk factors.

    Science.gov (United States)

    Andrade, D; Bortolotto, L; Bonfá, E; Borba, E

    2016-04-01

    To investigate if patients with Primary Antiphospholipid Syndrome (PAPS) with venous and/or arterial thrombosis without traditional coronary artery disease (CAD) risk factors develop early atherosclerotic vascular damage. 27 female patients with PAPS (Sidney criteria) and 27 age, body mass index (BMI), and sex matched controls were consecutively selected. Exclusion criteria were: black race, age ≥55 years, traditional cardiovascular risk factors, other thrombophilias or connective tissue diseases, corticosteroids use and pregnancy. All subjects underwent Pulse Wave Velocity (PWV) and Echo-Tracking (ET), both in carotidal bed, to analyse vascular functional properties. Age (p = 0.92) and BMI (p = 0.91) were comparable in both groups. PAPS patients and controls had similar PWV (9.07 ± 1.08 m/s vs 9.42 ± 1.47 m/s, p = 0.34) as well as echo tracking parameters such as intima-media thickness (683 ± 171 µm vs 636 ± 140 µm, p = 0.52), carotideal diameter (p = 0.26), distensibility (p = 0.92), compliance coefficients (p = 0.36) and elastic modulus (p = 0.78). Patients with exclusively venous thrombosis showed lower PWV than patients with arterial thrombosis (8.55 ± 0.70 m/s vs 9.56 ± 0.94 m/s, p = 0.01), but no difference regarding intima-media thickness (683 ± 171 µm vs 636 ± 140 µm, p = 0.52) was observed. Patients with PAPS do not seem to be at higher risk of developing premature atherosclerosis. Patients who suffered exclusively venous thrombosis seem to be at lower risk than those with exclusively arterial events. Other studies need to confirm our findings. © The Author(s) 2015.

  10. Adaptive Stress Response in Segmental Progeria Resembles Long-Lived Dwarfism and Calorie Restriction in Mice

    Science.gov (United States)

    Holcomb, Valerie B; von Lindern, Marieke; Jong, Willeke M. C; Zeeuw, Chris I. De; 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 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 (XPDG602D/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. PMID:17173483

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

    Science.gov (United States)

    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

    2006-12-15

    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.

  12. 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.

  13. 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.

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

    Science.gov (United States)

    Shimamoto, Akira; Kagawa, Harunobu; Zensho, Kazumasa; Sera, Yukihiro; Kazuki, Yasuhiro; Osaki, Mitsuhiko; Oshimura, Mitsuo; Ishigaki, Yasuhito; Hamasaki, Kanya; Kodama, Yoshiaki; Yuasa, Shinsuke; Fukuda, Keiichi; Hirashima, Kyotaro; Seimiya, Hiroyuki; Koyama, Hirofumi; Shimizu, Takahiko; Takemoto, Minoru; Yokote, Koutaro; Goto, Makoto; Tahara, Hidetoshi

    2014-01-01

    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.

  15. Aged induced pluripotent stem cell (iPSCs) as a new cellular model for studying premature aging.

    Science.gov (United States)

    Petrini, Stefania; Borghi, Rossella; D'Oria, Valentina; Restaldi, Fabrizia; Moreno, Sandra; Novelli, Antonio; Bertini, Enrico; Compagnucci, Claudia

    2017-05-31

    Nuclear integrity and mechanical stability of the nuclear envelope (NE) are conferred by the nuclear lamina, a meshwork of intermediate filaments composed of A- and B-type lamins, supporting the inner nuclear membrane and playing a pivotal role in chromatin organization and epigenetic regulation. During cell senescence, nuclear alterations also involving NE architecture are widely described. In the present study, we utilized induced pluripotent stem cells (iPSCs) upon prolonged in vitro culture as a model to study aging and investigated the organization and expression pattern of NE major constituents. Confocal and four-dimensional imaging combined with molecular analyses, showed that aged iPSCs are characterized by nuclear dysmorphisms, nucleoskeletal components (lamin A/C-prelamin isoforms, lamin B1, emerin, and nesprin-2) imbalance, leading to impaired nucleo-cytoplasmic MKL1 shuttling, actin polymerization defects, mitochondrial dysfunctions, SIRT7 downregulation and NF-kBp65 hyperactivation. The observed age-related NE features of iPSCs closely resemble those reported for premature aging syndromes (e.g., Hutchinson-Gilford progeria syndrome) and for somatic cell senescence. These findings validate the use of aged iPSCs as a suitable cellular model to study senescence and for investigating therapeutic strategies aimed to treat premature aging.

  16. Cerebral MRI abnormalities in a premature infant with later confirmed congenital central hypoventilation syndrome

    NARCIS (Netherlands)

    Delft, van E.; Andriessen, P.; Vaessens, C.N.A.L.; Buijs, J.; Bambang Oetomo, S.

    2010-01-01

    We present a premature infant with an inability to ventilate spontaneously during sleep periods. In addition, the patient showed general hypotonia. The child had a delayed passage of stool and increased anal muscle tone, indicating Hirschsprung's disease. The combination of these symptoms suggested

  17. 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

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

    NARCIS (Netherlands)

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

    2006-01-01

    textabstractHow 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

  19. 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.

  20. [Newborn of mother with HELLP syndrome: characteristics and role of prematurity, low birth-weight and leukopenia in evolution].

    Science.gov (United States)

    González Álvarez, Carmen Elena; González García, Lara Gloria; Carrera García, Laura; Díaz Zabala, Mikel; Suárez Rodríguez, Marta; Arias Llorente, Rosa Patricia; Costa Romero, Marta; Solís Sánchez, Gonzalo

    HELLP syndrome is a serious hypertensive disorder of pregnancy with important neonatal problems in the newborn. The objective of this work was to determine the characteristics of these infants and its neonatal evolution. A retrospective observational study of all newborns of mothers with HELLP syndrome born in a university hospital between January 1, 2008 and December 31, 2013 was carried out. Thirty-three infants from 28 pregnancies (five twin gestations) were studied. A descriptive and comparative analysis between groups and a multivariate analysis of factors associated with mortality in the series took place. Of 33 newborns studied (2.2 newborns/1,000 infants total), two were stillbirths (6.1% of the total) and four died after birth (12.9% of live neonates) with overall perinatal mortality of 18.2%. Pregnancies in 28 infants ended before 37 weeks (84.8%) and 11 pregnancies ended before week 32 (33.3%). Seven infants weighed<1500g (four weighed <1000g). Of the 31 live births, 13 infants were in a <10th percentile weight for gestational age (41.9%), 20 needed neonatal resuscitation (64.5%) and 14 had leukopenia at birth (45.2%). In the final logistic regression, neonatal mortality was associated with extreme prematurity regardless of underweight, leukopenia and/or need for neonatal resuscitation. Children of mothers with HELLP syndrome have a high mortality associated with extreme prematurity, independent of the presence of leukopenia, low weight for gestational age and need for neonatal resuscitation. Copyright © 2015 Hospital Infantil de México Federico Gómez. Publicado por Masson Doyma México S.A. All rights reserved.

  1. 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.

  2. Surfactant proteins gene variants in premature newborn infants with severe respiratory distress syndrome.

    Science.gov (United States)

    Somaschini, Marco; Presi, Silvia; Ferrari, Maurizio; Vergani, Barbara; Carrera, Paola

    2017-12-19

    Genetic surfactant dysfunction causes respiratory failure in term and near-term newborn infants, but little is known of such condition in prematures. We evaluated genetic surfactant dysfunction in premature newborn infants with severe RDS. A total of 68 preterm newborn infants with gestational age ≤32 weeks affected by unusually severe RDS were analysed for mutations in SFTPB, SFTPC and ABCA3. Therapies included oxygen supplementation, nasal CPAP, different modalities of ventilatory support, administration of exogenous surfactant, inhaled nitric oxide and steroids. Molecular analyses were performed on genomic DNA extracted from peripheral blood and Sanger sequencing of whole gene coding regions and intron junctions. In one case histology and electron microscopy on lung tissue was performed. Heterozygous previously described rare or novel variants in surfactant proteins genes ABCA3, SFTPB and SFTPC were identified in 24 newborn infants. In total, 11 infants died at age of 2 to 6 months. Ultrastructural analysis of lung tissue of one infant showed features suggesting ABCA3 dysfunction. Rare or novel genetic variants in genes encoding surfactant proteins were identified in a large proportion (35%) of premature newborn infants with particularly severe RDS. We speculate that interaction of developmental immaturity of surfactant production in association with abnormalities of surfactant metabolism of genetic origin may have a synergic worsening phenotypic effect.

  3. 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.

  4. 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

    -fat, caloric-restricted, or resveratrol-supplemented diet. High-fat feeding rescued the metabolic, transcriptomic, and behavioral phenotypes of Csbm/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......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...... 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...

  5. 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.

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

    NARCIS (Netherlands)

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

    2000-01-01

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

  7. 'A one-sided affair': unilateral pulmonary oedema and the role of cardiac MRI in diagnosing premature coronary artery disease in a patient with Prader-Willi syndrome.

    Science.gov (United States)

    Jabbar, Avais; Khan, Jamal N; Singh, Anvesha; McCann, Gerry P

    2013-05-22

    There is no formal association between premature coronary artery disease (CAD) and Prader-Willi syndrome despite its association with hyperlipidaemia, diabetes mellitus and hypertension. A 36-year-old man with Prader-Willi syndrome presented with acute breathlessness. Inflammatory markers were borderline elevated and chest radiography demonstrated unilateral diffuse alveolar shadowing. Bronchopneumonia was diagnosed and despite treatment with multiple courses of antimicrobial therapy, there was minimal symptomatic and radiographical improvement. A diagnosis of unilateral pulmonary oedema was suspected. Echocardiography was non-diagnostic due to body habitus and coronary angiography was deemed inappropriate due to uncertainty in diagnosis, invasiveness and pre-existing chronic kidney disease. Therefore, cardiac magnetic resonance was performed, confirming severe triple-vessel CAD. This case demonstrates a presentation of heart failure with unilateral chest radiograph changes in a young patient with Prader-Willi syndrome and severe premature CAD detected by multiparametric cardiac magnetic resonance imaging.

  8. Effects of low dose rate irradiation on life span prolongation of human premature-aging syndrome model mice

    International Nuclear Information System (INIS)

    Nomura, Takaharu

    2006-01-01

    We previously showed that Type II diabetes model mice prolonged of their life span by life long low dose rate irradiation. We also found that antioxidant function in variety tissues of some strain of mice were enhancement after low dose/low dose rate irradiation. The prolongation of life span might depend on certain damaged level of reactive oxygen species. We thought the effect of the prolongation was due to the enhancement of the antioxidant activities after irradiation. We investigated whether the enhancement of antioxidant activities after low dose rate irradiation had an effect on life span prolongation. Four-week-old female human premature-aging syndrome model mice, kl/kl (klotho) mice, which the life span of this model mouse is about 65 days, were irradiated with gamma rays at 0.35, 0.70 or 1.2 mGy/hr. The 0.70 mGy/hr-irradiated group remarkably effected on the prolongation of their life span. Some mice of the group were extremely survived for about and more 100 days. Antioxidant activities in the irradiated groups were enhancement by low dose rate irradiation, however the dependence of the dose rates were not clearly difference. These results suggest that the antioxidant activities in this model mouse were enhanced by the low dose rate irradiation, and may make it possible to prolong the life span of this mouse. (author)

  9. Extubation success in premature infants with respiratory distress syndrome treated with bi-level nasal continuous positive airway pressure versus nasal intermittent positive pressure ventilation.

    Science.gov (United States)

    Thomas, Patricia E; LeFlore, Judy

    2013-01-01

    Infants born prematurely with respiratory distress syndrome are at high risk for complications from mechanical ventilation. Strategies are needed to minimize their days on the ventilator. The purpose of this study was to compare extubation success rates in infants treated with 2 different types of continuous positive airway pressure devices. A retrospective cohort study design was used. Data were retrieved from electronic medical records for patients in a large, metropolitan, level III neonatal intensive care unit. A sample of 194 premature infants with respiratory distress syndrome was selected, 124 of whom were treated with nasal intermittent positive pressure ventilation and 70 with bi-level variable flow nasal continuous positive airway pressure (bi-level nasal continuous positive airway pressure). Infants in both groups had high extubation success rates (79% of nasal intermittent positive pressure ventilation group and 77% of bi-level nasal continuous positive airway pressure group). Although infants in the bi-level nasal continuous positive airway pressure group were extubated sooner, there was no difference in duration of oxygen therapy between the 2 groups. Promoting early extubation and extubation success is a vital strategy to reduce complications of mechanical ventilation that adversely affect premature infants with respiratory distress syndrome.

  10. 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.

  11. 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

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

    OpenAIRE

    Ven, Marieke; Andressoo, Jaan-Olle; Holcomb, Valerie; Lindern, Marieke; Jong, Willeke; Zeeuw, Chris; Suh, Yousin; Hasty, Paul; Hoeijmakers, Jan; Horst, Gijsbertus; Mitchell, James

    2006-01-01

    textabstractHow 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 cul...

  13. 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

  14. Autoimmune polyglandular syndrome type 3 (APS-3) among patients with premature ovarian insufficiency (POI).

    Science.gov (United States)

    Szlendak-Sauer, Katarzyna; Jakubik, Daniel; Kunicki, Michał; Skórska, Jolanta; Smolarczyk, Roman

    2016-08-01

    Autoimmune polyglandular syndrome type 3 - (APS-3), is defined as the coexistence of autoimmune thyroiditis with other non-ovarian autoimmune diseases without primary adrenal insufficiency. Additionally the definition of APS-3 also includes primary ovarian insufficiency (POI) coexistence with autoimmune thyroiditis. The main goal of that study is to assess the prevalence of APS-3 defined as coexistence of autoimmune thyroiditis with POI in population of 46 XX karyotype women with primary ovarian insufficiency (POI). The second goal is to investigate hormonal profile and insulin sensitivity in women with POI and subgroups of women with APS-3 - POI/APS-3(+) and without APS 3 - POI/APS-3(-). Anthropometric measurements, coexistence of autoimmune diseases, androgens, fasting glucose and insulin, glucose and insulin at 60' and 120' of oral glucose tolerance test (OGTT) and homeostasis model for insulin resistance (HOMA-IR), were determine in 98 patients aged between 18 and 39 with spontaneous 46 XX primary ovarian insufficiency (POI), in 33 POI/APS-3(+), 65 POI/APS-3(-), and 75 healthy controls. Continuous data were summarized by the mean±standard deviation (SD), and categorical data by number (percentages). Data were checked for normality using Shapiro-Wilk test, the comparison between groups were performed using non-parametric Mann-Whitney or Kruskall-Wallis test. Pearson's correlation coefficient was used to assess the relationships between parameters. Statistical significance was defined as p values APS-3(+) and POI/APS-3(-) showed significantly lower serum androgens in comparison to controls. Additionally women with POI/APS-3(+) showed hyperinsulinemia after 1h of OGTT; No significant differences in serum fasting glucose, insulin and during 2h OGTT between groups were observed. The prevalence of APS-3 is 33.7% in patients with spontaneous 46 XX primary ovarian insufficiency. Women with POI, POI/APS-3(+) and POI/APS-3(-) feature lower testosterone, androstendione

  15. The effect of inhaled budesonide on the prevention of chronic lung disease in premature neonates with respiratory distress syndrome

    Directory of Open Access Journals (Sweden)

    Alireza Sadeghnia

    2018-01-01

    Full Text Available Background: Considering all the latest achievements in neonatal respiratory care, bronchopulmonary dysplasia (BPD is still among the most prevalent morbidity causes in premature infants. Involvement in this process results in longer period of hospitalization for the newborn and in the long run makes the living conditions more difficult. Taking the multifactorial pathogenesis into account, approaches to tackle chronic lung disease (CLD are mainly focused on interventions and prevention procedures. This study tries to investigate the potential capability of inhaled budesonide in the prevention of BPD in newborns with gestational age of <28 weeks with the respiratory distress syndrome (RDS. Methods: This study was a randomized clinical trial done on seventy newborns with gestational ages of 23–28 weeks with RDS in Isfahan Shahid Beheshti Educational Hospital from June 2014 to April 2016. Patients were randomly assigned to two groups of intervention with budesonide and control. There were 35 newborns in each group. Upon recording demographic characteristics, the newborns in two groups were compared based on the length of noninvasive ventilation, the need for invasive mechanical ventilation, the number of surfactant administrations, pneumothorax, intraventricular hemorrhage, patent ductus arteriosus (PDA, CLD, and death. Results: The length of the need for nasal continuous positive airway pressure showed no statistically significant difference between the groups (P = 0.54. The number of newborns who needed invasive mechanical ventilation also revealed no meaningful difference (P = 0.14. Similarly, the number of newborns who were characterized as affected by CLD also showed no significant difference between the groups (P = 0.053. Moreover, the number of newborns who experienced pneumothorax was not significantly different for the groups (P = 0.057. The number of newborns who received three administrations of surfactant had also no statistically

  16. 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.

  17. 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.

  18. 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.

  19. Oocyte cryopreservation for fertility preservation in postpubertal female children at risk for premature ovarian failure due to accelerated follicle loss in Turner syndrome or cancer treatments.

    Science.gov (United States)

    Oktay, K; Bedoschi, G

    2014-12-01

    To preliminarily study the feasibility of oocyte cryopreservation in postpubertal girls aged between 13 and 15 years who were at risk for premature ovarian failure due to the accelerated follicle loss associated with Turner syndrome or cancer treatments. Retrospective cohort and review of literature. Academic fertility preservation unit. Three girls diagnosed with Turner syndrome, 1 girl diagnosed with germ-cell tumor. and 1 girl diagnosed with lymphoblastic leukemia. Assessment of ovarian reserve, ovarian stimulation, oocyte retrieval, in vitro maturation, and mature oocyte cryopreservation. Response to ovarian stimulation, number of mature oocytes cryopreserved and complications, if any. Mean anti-müllerian hormone, baseline follical stimulating hormone, estradiol, and antral follicle counts were 1.30 ± 0.39, 6.08 ± 2.63, 41.39 ± 24.68, 8.0 ± 3.2; respectively. In Turner girls the ovarian reserve assessment indicated already diminished ovarian reserve. Ovarian stimulation and oocyte cryopreservation was successfully performed in all female children referred for fertility preservation. A range of 4-11 mature oocytes (mean 8.1 ± 3.4) was cryopreserved without any complications. All girls tolerated the procedure well. Oocyte cryopreservation is a feasible technique in selected female children at risk for premature ovarian failure. Further studies would be beneficial to test the success of oocyte cryopreservation in young girls. Copyright © 2014 North American Society for Pediatric and Adolescent Gynecology. Published by Elsevier Inc. All rights reserved.

  20. Premature Ejaculation

    Science.gov (United States)

    ... include the following: Anxiety about performance Guilty feelings Depression Stress Relationship problems Men who have a low amount of a special ... on your favorite sports team. Psychological assistance Anxiety, depression ... may help men who have premature ejaculation. Some antidepressants seem to ...

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

    Directory of Open Access Journals (Sweden)

    Sousan Valizadeh

    2012-11-01

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

  2. Premature emphysema in AIDS

    International Nuclear Information System (INIS)

    Kuhlman, J.E.; Fishman, E.K.; Zerhouni, E.A.; Knowles, M.

    1988-01-01

    The CT scans of 55 patients with acquired immunodeficiency syndrome (AIDS) were reviewed for evidence of pulmonary emphysema. While the average age of patients in this series was 38 years, 25 of the 55 patients, or 45%, demonstrated CT evidence of emphysema. CT findings suggestive of emphysema included areas of low-attenuation, blebs and/or vascular disruption. The authors conclude there is an increased incidence of CT-detectable pulmonary emphysema that is premature for age in patients with AIDS. Destruction of pulmonary parenchyma may represent the response of the lung to repeated pulmonary infections or may be a direct result of the human immunodeficiency virus

  3. Premature delivery

    Directory of Open Access Journals (Sweden)

    Bernardita Donoso Bernales

    2012-09-01

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

  4. Premature aging

    International Nuclear Information System (INIS)

    Sassaki, Hideo

    1992-01-01

    The hypothesis that radiation may accelerate aging phenomenon has been studied extensively, using the population of A-bomb survivors. In this paper, non-specific radiation-induced premature aging is discussed with a review of the literature. Cardiac lipofuscin, papillary fibrosis, aortic extensibility, hexamine/collagen ratio in the skin and aorta, testicular changes, giant hepatic cell nucleus, and neurofibril changes have so far been studied pathologically in the context of A-bomb radiation. Only testicular sclerosis has been found to correlate with distance from the hypocenter. Suggestive correlation was found to exist between the hexamine/collagen ratio in the skin and aorta and A-bomb radiation. Grip strength and hearing ability were decreased in the group of 100 rad and the group of 50-99 rad, respectively. The other physiological data did not definitely correlate with A-bomb radiation. Laboratory data, including erythrocyte sedimentation rate, α and β globulin levels, phytohemagglutinin reaction, T cell counts, erythrocyte glycophorin-A, the incidence of cerebral stroke, ischemic heart disease, and cataract were age-dependent and correlated with A-bomb radiation. These findings indicated that the occurrence of arteriosclerosis-related diseases, changes in immunological competence, and some pathological and physiological findings altered with advancing age, suggesting the correlation with A-bomb radiation. In general, it cannot be concluded that there is a positive correlation between A-bomb radiation and the premature aging. (N.K.) 51 refs

  5. 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.

  6. Exome Sequencing Identified a Splice Site Mutation in FHL1 that Causes Uruguay Syndrome, an X-Linked Disorder With Skeletal Muscle Hypertrophy and Premature Cardiac Death.

    Science.gov (United States)

    Xue, Yuan; Schoser, Benedikt; Rao, Aliz R; Quadrelli, Roberto; Vaglio, Alicia; Rupp, Verena; Beichler, Christine; Nelson, Stanley F; Schapacher-Tilp, Gudrun; Windpassinger, Christian; Wilcox, William R

    2016-04-01

    Previously, we reported a rare X-linked disorder, Uruguay syndrome in a single family. The main features are pugilistic facies, skeletal deformities, and muscular hypertrophy despite a lack of exercise and cardiac ventricular hypertrophy leading to premature death. An ≈19 Mb critical region on X chromosome was identified through identity-by-descent analysis of 3 affected males. Exome sequencing was conducted on one affected male to identify the disease-causing gene and variant. A splice site variant (c.502-2A>G) in the FHL1 gene was highly suspicious among other candidate genes and variants. FHL1A is the predominant isoform of FHL1 in cardiac and skeletal muscle. Sequencing cDNA showed the splice site variant led to skipping of exons 6 of the FHL1A isoform, equivalent to the FHL1C isoform. Targeted analysis showed that this splice site variant cosegregated with disease in the family. Western blot and immunohistochemical analysis of muscle from the proband showed a significant decrease in protein expression of FHL1A. Real-time polymerase chain reaction analysis of different isoforms of FHL1 demonstrated that the FHL1C is markedly increased. Mutations in the FHL1 gene have been reported in disorders with skeletal and cardiac myopathy but none has the skeletal or facial phenotype seen in patients with Uruguay syndrome. Our data suggest that a novel FHL1 splice site variant results in the absence of FHL1A and the abundance of FHL1C, which may contribute to the complex and severe phenotype. Mutation screening of the FHL1 gene should be considered for patients with uncharacterized myopathies and cardiomyopathies. © 2016 American Heart Association, Inc.

  7. Your Premature Baby

    Science.gov (United States)

    ... volunteer leader Partner Spotlight Become a partner World Prematurity Day What's happening in your area Find out ... 3 weeks after a premature birth. Retinopathy of prematurity (ROP) . This is an abnormal growth of blood ...

  8. Early or Premature Menopause

    Science.gov (United States)

    ... email updates Enter email Submit Early or premature menopause Menopause that happens before age 40 is called ... What is the difference between early and premature menopause? Early or premature menopause happens when ovaries stop ...

  9. Preterm labor and premature birth: Are you at risk?

    Science.gov (United States)

    ... and premature birth, including: Connective tissue disorders, like Ehlers-Danlos syndromes (also called EDS) and vascular Ehlers-Danlos syndrome (also called vEDS). Connective tissue is tissue that ...

  10. Association between prematurity and the evolution of psychotic disorders in 22q11.2 deletion syndrome.

    Science.gov (United States)

    Midbari Kufert, Yael; Nachmani, Ariela; Nativ, Einat; Weizman, Abraham; Gothelf, Doron

    2016-12-01

    In this study, we report the developmental, physical and psychiatric manifestations of 22q11.2 deletion syndrome (22q11.2DS) in a large Israeli cohort, and search for a possible association between preterm birth and the risk for psychotic disorders. The study population consisted of 128 individuals with 22q11.2DS (77 male, 51 female), aged 1-55 years (mean ± SD 12.9 ± 11.0). All subjects underwent a comprehensive medical evaluation. All subjects older than 5 years (n = 104) were also evaluated psychiatrically. Overall, we found rates of physical manifestations similar to those previously reported in the literature. Psychiatric disorders were very common among our study population, with psychotic disorders occurring in 16.3 % of the psychiatrically evaluated population. We found an association between the presence of psychotic disorders and preterm birth. Our results replicate and extend the findings of a previous work and suggest that the evolution of psychosis in 22q11.2DS is a neurodevelopmental process with early obstetric and medical precursors.

  11. 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.

  12. 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.

  13. Prevention and reversal of intestinal failure-associated liver disease in premature infants with short bowel syndrome using intravenous fish oil in combination with omega-6/9 lipid emulsions.

    Science.gov (United States)

    Lilja, Helene Engstrand; Finkel, Yigael; Paulsson, Mattias; Lucas, Steven

    2011-07-01

    Although premature infants with short bowel syndrome are at the highest risk of developing intestinal failure-associated liver disease (IFALD), they have great capacity for intestinal growth and adaptation if IFALD can be prevented. Conventional soybean oil-based intravenous lipid emulsions have been associated with IFALD. This study presents data on 5 premature neonates with short bowel syndrome treated with a combination of parenteral fish oil- and olive/soybean-based lipid emulsion for periods ranging between 7 and 17 months. Despite an enteral tolerance of less than 50% in 4 of these patients during their first year of life, direct bilirubin levels normalized while on this combination of ClinOleic (Baxter, Maurepas, France)/Omegaven (Fresenius Kabi, Bad Homburg, Germany) at a 1:1 ratio. None of our patients developed irreversible IFALD even though all of them were premature, had undergone multiple major surgical procedures, and had experienced several episodes of sepsis. Thus far, we have not seen any adverse effects of this mixed lipid emulsion in these preterm infants. All 5 patients are growing and developing well and have normal liver function. Copyright © 2011 Elsevier Inc. All rights reserved.

  14. Impaired genome maintenance suppresses the growth hormone--insulin-like growth factor 1 axis in mice with Cockayne syndrome.

    NARCIS (Netherlands)

    I. van der Pluijm (Ingrid); G.A. Garinis (George); R.M.C. Brandt (Renata); T.G.M.F. Gorgels (Theo); S.W.P. Wijnhoven (Susan); K.E.M. Diderich (Karin); J. de Wit (Jan); J.R. Mitchell (James); C.T.M. van Oostrom (Conny); R.B. Beems (Rudolf); L.J. Niedernhofer (Laura); S. Velasco (Susana); E.C. Friedberg (Errol); K. Tanaka (Kiyoji); H. van Steeg (Harry); J.H.J. Hoeijmakers (Jan); G.T.J. van der Horst (Gijsbertus)

    2006-01-01

    textabstractCockayne syndrome (CS) is a photosensitive, DNA repair disorder associated with progeria that is caused by a defect in the transcription-coupled repair subpathway of nucleotide excision repair (NER). Here, complete inactivation of NER in Csb(m/m)/Xpa(-/-) mutants causes a phenotype that

  15. Tumor-Protective Mechanism Identified from Premature Aging Disease | Center for Cancer Research

    Science.gov (United States)

    Hutchinson-Gilford Progeria Syndrome (HGPS) is an extraordinarily rare genetic disorder caused by a mutation in the LMNA gene, which encodes architectural proteins of the human cell nucleus. The mutation causes the production of a mutant protein called progerin. Patients with HGPS display signs of premature aging, such as hair loss, slowed growth, weakening of bone and joint integrity, and cardiovascular disease. Most die in their mid-teens of heart disease or stroke. Intriguingly, these patients do not develop another aging-related disease, cancer, despite having dramatically elevated levels of DNA damage. Tom Misteli, Ph.D., of CCR’s Laboratory of Receptor Biology and Gene Expression, and his colleagues hypothesized that, rather than patients not living long enough to develop cancer, a resistance mechanism was operating in HGPS cells to prevent cancer formation. To begin testing this idea, the researchers transformed fibroblasts from HGPS patients or age-matched, healthy controls with telomerase, constitutively-activated HRAS, and SV40 large and small T antigens. Transformed HGPS cells displayed morphological changes and increased proliferation similar to transformed controls but formed fewer colonies in soft agar and fewer tumors when injected into mice. When the investigators examined global gene expression in the two populations of cells, they found that transformed HGPS cells failed to activate many of the genes that are induced in response to transformation in controls, including oncogenic and proliferation pathways. In addition the transformed HGPS cells were unable to undergo oncogenic de-differentiation. Importantly, the tumor resistance in HGPS cells was due to the presence of the progerin protein, which was both necessary and sufficient to protect cells from oncogenic transformation. Together these results suggested that HGPS cells resist cancer-inducing stimuli by not undergoing the genetic reprogramming necessary for tumor initiation. The scientists

  16. Apnea of prematurity

    Science.gov (United States)

    ... medlineplus.gov/ency/article/007227.htm Apnea of prematurity To use the sharing features on this page, ... down or stops from any cause. Apnea of prematurity refers to short episodes of stopped breathing in ...

  17. 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.

  18. Evaluation of respiratory distress syndrome on chest A-P view in premature baby and L. B. W. I. in Korea

    International Nuclear Information System (INIS)

    Chung, E. S.; Kang, H. J.; Jeon, J. D.; Han, C. Y.

    1980-01-01

    Early chest roentgenogram before the appearance of symptoms is extremely important. Continuous follow-up check is also necessary. The evaluation of neonatal respiratory distress and its assessment has led to the recognition of many abnormal roentgenographic patterns especially in premature baby including low birth infant. A closer observation of chest roentgenogram is necessary in view of 'delayed resorption of pulmonary alveolar fluids' in the early stage of life in premature baby and L. B. W. I. We have reviewed the chest roentgenogram of 110 premature babies including low birth weight infants in whom a clinical or roentgenographic diagnosis of R. D. S. and 'delayed resorption of pulmonary alveolar fluids' was made during the period January 1979-June 1980. The results are as follows; 1. On the simple chest roentgenogram only, R. D. S. has higher incidence in male infant (28:17). 2. Clinically the incidence of R. D. S. is 46.2% in premature baby, and 13.3% in L. B. W. I. 3. The onset of clinical symptom is in the range of approximately 6 hours to 40 hours after birth. And simple chest A-P taken as early as possible is helpful in detection and prevention of R. D. S. And follow up check after development of symptom is important to diagnose and differentiate type I from type II. 4. The incidence of R. D. S. on simple chest roentgenogram is 9.1% in type I, 16.4% in type II and 1 case in SUS. I group, and 14.5% in SUS. II group. 5. 26.5% of premature baby with normal delivery and 33.3% of those delivered by C-section shows delayed pulmonary alveolar fluids. 6. Premature is the main cause of R. D. S. with incidence of 38.4%, and C-sec. is increased in motality rate due to R. D. S

  19. 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

  20. Retinopathy of Prematurity

    Science.gov (United States)

    Steinweg, Sue Byrd; Griffin, Harold C.; Griffin, Linda W.; Gingras, Happy

    2005-01-01

    The eyes of premature infants are especially vulnerable to injury after birth. A serious complication is called retinopathy of prematurity (ROP), which is abnormal growth of the blood vessels in an infant's eye. Retinopathy of prematurity develops when abnormal blood vessels grow and spread throughout the retina, which is the nerve tissue at the…

  1. 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.

  2. Heated, Humidified High-Flow Nasal Cannula vs Nasal Continuous Positive Airway Pressure for Respiratory Distress Syndrome of Prematurity: A Randomized Clinical Noninferiority Trial.

    Science.gov (United States)

    Lavizzari, Anna; Colnaghi, Mariarosa; Ciuffini, Francesca; Veneroni, Chiara; Musumeci, Stefano; Cortinovis, Ivan; Mosca, Fabio

    2016-08-08

    Heated, humidified high-flow nasal cannula (HHHFNC) has gained increasing popularity as respiratory support for newborn infants thanks to ease of use and improved patient comfort. However, its role as primary therapy for respiratory distress syndrome (RDS) of prematurity needs to be further elucidated by large, randomized clinical trials. To determine whether HHHFNC provides respiratory support noninferior to nasal continuous positive airway pressure (nCPAP) or bilevel nCPAP (BiPAP) as a primary approach to RDS in infants older than 28 weeks' gestational age (GA). An unblinded, monocentric, randomized clinical noninferiority trial at a tertiary neonatal intensive care unit. Inborn infants at 29 weeks 0 days to 36 weeks 6 days of GA were eligible if presenting with mild to moderate RDS requiring noninvasive respiratory support. Criteria for starting noninvasive respiratory support were a Silverman score of 5 or higher or a fraction of inspired oxygen higher than 0.3 for a target saturation of peripheral oxygen of 88% to 93%. Infants were ineligible if they had major congenital anomalies or severe RDS requiring early intubation. Infants were enrolled between January 5, 2012, and June 28, 2014. Randomization to either HHHFNC at 4 to 6 L/min or nCPAP/BiPAP at 4 to 6 cm H2O. Need for mechanical ventilation within 72 hours from the beginning of respiratory support. The absolute risk difference in the primary outcome and its 95% confidence interval were calculated to determine noninferiority (noninferiority margin, 10%). An intention-to-treat analysis was performed. A total of 316 infants were enrolled in the study: 158 in the HHHFNC group (mean [SD] GA, 33.1 [1.9] weeks; 52.5% female) and 158 in the nCPAP/BiPAP group (mean [SD] GA, 33.0 [2.1] weeks; 47.5% female). The use of HHHFNC was noninferior to nCPAP with regard to the primary outcome: failure occurred in 10.8% vs 9.5% of infants, respectively (95% CI of risk difference, -6.0% to 8.6% [within the noninferiority

  3. 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

  4. AMH as Predictor of Premature Ovarian Insufficiency

    DEFF Research Database (Denmark)

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

    2015-01-01

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

  5. Family Perspectives on Prematurity

    Science.gov (United States)

    Zero to Three (J), 2003

    2003-01-01

    In this article, seven families describe their experiences giving birth to and raising a premature baby. Their perspectives vary, one from another, and shift over time, depending on each family's circumstances and the baby's developmental course. Experiences discussed include premature labor, medical interventions and the NICU, bringing the baby…

  6. Premature ovarian failure

    OpenAIRE

    Pacheco, José

    2011-01-01

    Premature ovarian failure is characterized by secondary amenorrhea affecting a woman before the age of 40, leading to hypoestrogenism, infertility, and consequences of premature menopause, such as osteoporosis, cardiovascular disease, neurovegetative alterations, and others. Follicular exhaustion is due to either follicles shortage or oocytes accelerated destruction. Main causes are genetic, autoimmune and iatrogenic. Among genetic causes Xq and Xp deletions, translocations, numeric aberratio...

  7. Radiation-induced premature menopause: a misconception

    International Nuclear Information System (INIS)

    Madsen, Berit L.; Giudice, Linda; Donaldson, Sarah S.

    1995-01-01

    Purpose: To disprove the common view that women who have undergone irradiation to fields excluding the pelvis are at risk for radiation-induced premature menopause, we reviewed menstrual function and fertility among women treated with subtotal lymphoid irradiation for Hodgkin's Disease. Methods and Materials: Treatment and follow-up records of all women less than age 50 at the time of diagnosis of Stage I or II supradiaphragmatic Hodgkin's Disease, treated with subtotal lymphoid irradiation alone and enrolled in radiotherapy trials from 1967 to 1985, were reviewed. In addition, patients were surveyed regarding their menstrual status and fertility history. Results: Thirty-six women, aged 10 to 40 years, with normal menstrual function at the time of Hodgkin's diagnosis, were identified. Mean follow-up was 14 years, with a range of 1.25-22.75 years. The average radiation dose to mantle and paraaortic fields was 40-44 Gy; the calculated scatter radiation dose to the pelvis at the ovaries was 3.2 Gy. There were 38 pregnancies in 18 women; all offspring are normal. One of 36 women (2.7%) experienced premature menopause. The reported rate of premature menopause in women who have not undergone irradiation is 1-3%; not significantly different than the rate in our study. There is a syndrome whereby antibodies to several endocrine organs occur (including the ovary), which is associated with premature ovarian failure. This syndrome may be associated with prior radiation to the thyroid, such as that given by mantle-irradiation for Hodgkin's Disease. We report such a case. Conclusion: There is little risk of premature menopause in women treated with radiation fields that exclude the pelvis. Women with presumed radiation-induced premature menopause warrant an evaluation to exclude other causes of ovarian failure, such as autoimmune disorders

  8. Premature rupture of membranes

    Science.gov (United States)

    ... gov/ency/patientinstructions/000512.htm Premature rupture of membranes To use the sharing features on this page, ... water that surrounds your baby in the womb. Membranes or layers of tissue hold in this fluid. ...

  9. Retinopathy of Prematurity (ROP)

    Science.gov (United States)

    ... developing severe ROP, especially those in underserved or remote areas. Currently in the U.S., evaluation of premature ... files require the free Adobe® Reader® software for viewing. This website is maintained by the NEI Office ...

  10. Premature ovarian failure and ovarian autoimmunity

    OpenAIRE

    Schoemaker, Joop; Drexhage, Hemmo; 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 heterogeneous disorder with a multicausal pathogenesis involving chromosomal, genetic, enzymatic, infectious, and iatrogenic causes. There remains, however, a group of POF patients without a known etiology, the so-called "idiopathic...

  11. A Single Base Pair Mutation Encoding a Premature Stop Codon in the MIS type II receptor is Responsible for Canine Persistent Müllerian Duct Syndrome

    Science.gov (United States)

    Wu, Xiufeng; Wan, Shengqin; Pujar, Shashikant; Haskins, Mark E.; Schlafer, Donald H.; Lee, Mary M.; Meyers-Wallen, Vicki N.

    2008-01-01

    Müllerian Inhibiting Substance (MIS), a secreted glycoprotein in the Transforming Growth Factor-beta (TGF-beta) family of growth factors, mediates regression of the Müllerian ducts during embryonic sex differentiation in males. In Persistent Müllerian Duct Syndrome (PMDS), rather than undergoing involution, the Müllerian ducts persist in males, giving rise to the uterus, Fallopian tubes, and upper vagina. Genetic defects in MIS or its receptor (MISRII) have been identified in patients with PMDS. The phenotype in the canine model of PMDS derived from the miniature schnauzer breed is strikingly similar to that of human patients. In this model, PMDS is inherited as a sex-limited autosomal recessive trait. Previous studies indicated that a defect in the MIS receptor or its downstream signaling pathway was likely to be causative of the canine syndrome. In this study the canine PMDS phenotype and clinical sequelae are described in detail. Affected and unaffected members of this pedigree are genotyped, identifying a single base pair substitution in MISRII that introduces a stop codon in exon 3. The homozygous mutation terminates translation at 80 amino acids, eliminating much of the extracellular domain and the entire transmembrane and intracellular signaling domains. Findings in this model may enable insights to be garnered from correlation of detailed clinical descriptions with molecular defects, which are not otherwise possible in the human syndrome. PMID:18723470

  12. 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.

  13. 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.

  14. 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...... the researchers refer to as the ‘translatability’ of the results. In the NICU, parents of premature infants likewise imagine a kind of interspecies kinship when presented with the option to supplement mother's own milk with bovine colostrum for the first weeks after birth. However, in this setting the NICU...

  15. Your Premature Baby: Low Birthweight

    Science.gov (United States)

    ... volunteer leader Partner Spotlight Become a partner World Prematurity Day What's happening in your area Find out ... to remove damaged parts of intestine. Retinopathy of prematurity (also called ROP) . ROP affects blood vessels in ...

  16. Health Issues of Premature Babies

    Science.gov (United States)

    ... they leave the hospital for home. Retinopathy of Prematurity (ROP) What It Is: ROP is an eye ... sometimes seen in preterm babies include anemia of prematurity (a low red blood cell count) and heart ...

  17. Myopia in premature babies with and without retinopathy of prematurity.

    OpenAIRE

    Nissenkorn, I; Yassur, Y; Mashkowski, D; Sherf, I; Ben-Sira, I

    1983-01-01

    One hundred and fifty-five premature infants weighing 600-2000 g were followed up during 1974-80 for the presence of retinopathy of prematurity (ROP) and for the existence of myopia. 50% of the premature infants who had ROP were myopic, while only 16% myopic premature infants were found among those who did not have ROP. There was a positive correlation between the degree of myopia and the severity of cicatricial ROP. No difference existed in the frequency and degree of myopia between prematur...

  18. Retinopathy of prematurity

    International Nuclear Information System (INIS)

    Benavides Vargas, Ana Maria

    2013-01-01

    Retinopathy of prematurity has been the leading cause of childhood blindness. Early and effective screening has helped to diagnose the visual target of an infant by the difference between growing up with a disability or not. A joint effort between ophthalmologists and neonatologists is proposed to control this disease, ensuring success. An appropriate, early, effective and timely treatment has been the laser and cryotherapy like good choices for the neonate to prevent disease progression. Evaluation of screening program, to determine the incidence, compare statistics variables have been measures as other medical pathologies should be encouraged as research topics. A decrease in the incidence of retinopathy of prematurity is expected, controlling the risk factors during the child's stay in intrahospital neonatal unit [es

  19. Prematurely terminated slug tests

    International Nuclear Information System (INIS)

    Karasaki, K.

    1990-07-01

    A solution of the well response to a prematurely terminated slug test (PTST) is presented. The advantages of a PTST over conventional slug tests are discussed. A systematized procedure of a PTST is proposed, where a slug test is terminated in the midpoint of the flow point, and the subsequent shut-in data is recorded and analyzed. This method requires a downhole shut-in device and a pressure transducer, which is no more than the conventional deep-well slug testing. As opposed to slug tests, which are ineffective when a skin is present, more accurate estimate of formation permeability can be made using a PTST. Premature termination also shortens the test duration considerably. Because in most cases no more information is gained by completing a slug test to the end, the author recommends that conventional slug tests be replaced by the premature termination technique. This study is part of an investigation of the feasibility of geologic isolation of nuclear wastes being carried out by the US Department of Energy and the National Cooperative for the Storage of Radioactive Waste of Switzerland

  20. 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

  1. Retinopathy of prematurity and neurodevelopmental disabilities in premature infants.

    Science.gov (United States)

    Beligere, Nagamani; Perumalswamy, Vijayalaksmi; Tandon, Manish; Mittal, Amit; Floora, Jayasheele; Vijayakumar, B; Miller, Marilyn T

    2015-10-01

    Prematurity is a major global health issue leading to high mortality and morbidity among the survivors. Neurodevelopmental disability (NDD) and retinopathy of prematurity (ROP) are the most common complications of prematurity. In fact, ROP is the second leading cause of childhood blindness in the world. Although there is much information regarding the occurrence of ROP and of NDD in premature infants, there have been few studies on ROP and its association with NDD. The objectives of this article are to review the current literature on the subject and to publish our own findings concerning the association between ROP and NDD in premature infants. The review suggests that although NDDs are related to degree of prematurity, NDD could also be the result of visual impairments resulting from ROP. Our own study shows a close association between NDD and zonal involvement of ROP: higher NDD if zone 1 is involved and less if zone 3 is involved. Copyright © 2015 Elsevier Ltd. All rights reserved.

  2. Premature osteoarthritis of the knee associated with cartilage hypertrophy and phalangeal dysgenesis

    International Nuclear Information System (INIS)

    Vital, E.M.J.; Hutton, C.W.; Hughes, P.M.

    2005-01-01

    A woman presented with premature knee osteoarthritis associated with marked femoral cartilage hypertrophy. She also exhibited phalangeal dysgenesis, suggesting this may be an unrecognised syndrome that may predispose to knee osteoarthritis. (orig.)

  3. Patent Ductus Arteriosus in Premature Neonates

    Science.gov (United States)

    Mezu-Ndubuisi, Olachi J.; Agarwal, Ghanshyam; Raghavan, Aarti; Pham, Jennifer T.; Ohler, Kirsten H.; Maheshwari, Akhil

    2015-01-01

    Persistent patency of the ductus arteriosus is a major cause of morbidity and mortality in premature infants. In infants born prior to 28 weeks of gestation, a hemodynamically-significant patent ductus arteriosus (PDA) can cause cardiovascular instability, exacerbate respiratory distress syndrome, prolong the need for assisted ventilation, and increase the risk of bronchopulmonary dysplasia, intraventricular hemorrhage, renal dysfunction, intraventricular hemorrhage, cerebral palsy, and mortality. In this article, we review the pathophysiology, clinical features, and assessment of hemodynamic significance, and provide a rigorous appraisal of the quality of evidence to support current medical and surgical management of PDA of prematurity. Cyclo-oxygenase inhibitors such as indomethacin and ibuprofen remain the mainstay of medical therapy for PDA, and can be used both for prophylaxis as well as rescue therapy to achieve PDA closure. Surgical ligation is also effective and is used in infants who do not respond to medical management. Although both medical and surgical treatment have proven efficacy in closing the ductus, both modalities are associated with significant adverse effects. Because the ductus does undergo spontaneous closure in some premature infants, improved and early identification of infants most likely to develop a symptomatic PDA could help in directing treatment to the at-risk infants and allow others to receive expectant management. PMID:22564132

  4. Hepatic Insulin Resistance and Altered Gluconeogenic Pathway in Premature Baboons.

    Science.gov (United States)

    McGill-Vargas, Lisa; Gastaldelli, Amalia; Liang, Hanyu; Anzueto Guerra, Diana; Johnson-Pais, Teresa; Seidner, Steven; McCurnin, Donald; Muscogiuri, Giovanna; DeFronzo, Ralph; Musi, Nicolas; Blanco, Cynthia

    2017-05-01

    Premature infants have altered glucose regulation early in life and increased risk for diabetes in adulthood. Although prematurity leads to an increased risk of diabetes and metabolic syndrome in adult life, the role of hepatic glucose regulation and adaptation to an early extrauterine environment in preterm infants remain unknown. The purpose of this study was to investigate developmental differences in glucose metabolism, hepatic protein content, and gene expression of key insulin-signaling/gluconeogenic molecules. Fetal baboons were delivered at 67%, 75%, and term gestational age and euthanized at birth. Neonatal baboons were delivered prematurely (67% gestation), survived for two weeks, and compared with similar postnatal term animals and underwent serial hyperinsulinemic-euglycemic clamp studies. Premature baboons had decreased endogenous glucose production (EGP) compared with term animals. Consistent with these results, the gluconeogenic molecule, phosphoenolpyruvate carboxykinase messenger RNA, was decreased in preterm baboons compared with terms. Hepatic insulin signaling was altered by preterm birth as evidenced by decreased insulin receptor-β, p85 subunit of phosphoinositide 3-kinase, phosphorylated insulin receptor substrate 1, and Akt-1 under insulin-stimulated conditions. Furthermore, preterm baboons failed to have the normal increase in glycogen synthase kinase-α from fetal to postnatal life. The blunted responses in hepatic insulin signaling may contribute to the hyperglycemia of prematurity, while impaired EGP leads to hypoglycemia of prematurity. Copyright © 2017 Endocrine Society.

  5. Premature ejaculation. 3. Therapy.

    Science.gov (United States)

    Piediferro, Guido; Colpi, Elisabetta M; Castiglioni, Fabrizio; Scroppo, Fabrizio I

    2004-12-01

    Serotonergic drugs (SSRIs) are the most commonly used, but they are characterized by relapse some time after medication interruption as well as by sexual side effects. The efficacy of phosphodiesterase-5 inhibitors seems excellent, but the risk of tachyphylaxis has been reported. The former (fluoxetine, paroxetine, sertraline, clomipramine) should be used in young patients with hyper-orgasmic forms, while the latter (sildenafil, tadalafil, vardenafil) should be used in hypo-orgasmic forms, in old age or when PE is associated with erectile dysfunction. Topical anesthetics provide satisfactory results in premature ejaculation due to hypersensitivity of the glans, and physiotherapy of the pelvic floor muscles proves successful in cases associated with pelvic floor dysfunction. Therapeutic associations and psycho-sexual therapy techniques may improve results, particularly in the long term.

  6. [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.

  7. [Retinopathy of prematurity].

    Science.gov (United States)

    Promelle, V; Milazzo, S

    2017-05-01

    Retinopathy of prematurity is a retinal vasoproliferative disease affecting extremely preterm infants exposed to high concentrations of oxygen therapy. Infants born before 32 post-menstrual weeks or with a birth weight of less than 1500g should systematically have a dilated fundus examination. The time of screening and schedule for follow-up are guided by the various risk factors. This disease results from immaturity of the peripheral retinal vessels at the time of premature birth. The classification of ROP depends on the anteroposterior extent of involvement (from center to periphery: zone I, II and III), its extension in 30° sectors (clock hours) and its stage (stage 1 to 5). "Plus" disease is defined as dilation and tortuosity of the retinal blood vessels in the posterior pole of the eye and represents a major risk factor for rapid unfavorable progression. A majority of patients will spontaneously recover, but patients with a high risk of progression will require treatment to prevent retinal detachment and blindness. The indications for treatment are threshold disease and type 1 pre-threshold disease. The current treatment of choice is peripheral retinal ablation with transpupillary laser, but ab externo cryotherapy may be used instead. Intravitreal injection of vascular endothelial growth factor inhibitors may be an attractive therapeutic option and is currently under investigation. After laser treatment, unfavorable outcomes occur in only 9 to 14 % of eyes, but at the price of peripheral retinal destruction. For all patients, whether treated or not, a regular fundus examination should be insured until complete retinal vascularization has occurred. Copyright © 2017 Elsevier Masson SAS. All rights reserved.

  8. Apnea of Prematurity (For Parents)

    Science.gov (United States)

    ... mature enough to allow nonstop breathing. This causes large bursts of breath followed by periods of shallow breathing or stopped breathing. Apnea of prematurity usually ends on its own after a few ...

  9. Premature ovarian failure

    Directory of Open Access Journals (Sweden)

    Vujović Svetlana

    2012-01-01

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

  10. Premature menopause linked to CVD and osteoporosis.

    Science.gov (United States)

    Park, Claire; Overton, Caroline

    2010-03-01

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

  11. 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. Premature pubarche is niet altijd onschuldig

    NARCIS (Netherlands)

    Backes, Manouk; Zwaveling-Soonawala, Nitash; Kamp, Gerdine A.

    2012-01-01

    Premature pubarche is defined as growth of pubic hair before the age of 8 years in girls and 9 years in boys. In most cases, it is caused by premature adrenarche, which is a premature increased synthesis of androgens in the adrenal gland and is considered to be relatively harmless. Premature

  13. Learning about Progeria

    Science.gov (United States)

    ... Care Genomic Medicine Working Group New Horizons and Research Patient Management Policy and Ethics Issues Quick Links for Patient Care Education All About the Human Genome Project Fact Sheets Genetic Education Resources for ...

  14. Progeria Research Foundation, Inc.

    Science.gov (United States)

    ... Million Views – Celebrate with Us! Sam’s talk, "My Philosophy for a Happy Life", has inspired over 25 ... July 11th, 2016 | 0 Comments PRF Continues Aggressive Research Agenda Events November 25, 2017 in Verona, NJ: ...

  15. [Genetic aspects of premature ovarian failure].

    Science.gov (United States)

    Warenik-Szymankiewicz, Alina; Słopień, Radosław

    2005-01-01

    Among the causes of premature ovarian failure (POF) two groups of factors are reported: factors which lead to decrease of follicular number and factors which stimulate follicular atresia. In the first group genetic factors are the most important whereas in the second: enzymatic autoimmunological, iatrogenic, toxins and infections are reported. In 1986 familiar POF on the background of long arm of chromosome X deletion was reported. Other chromosomes which are important for normal ovarian function are: chromosome 21 (AIRE gene), chromosome 11 (gene of beta FSH, ATM gene), chromosome 3 (gene responsible for BEPS syndrome) and chromosome 2 (genes of FSH and LH receptors). In this review the role of these genes and results of several epidemiological studies are reported.

  16. Prenatal stress, prematurity and asthma

    Science.gov (United States)

    Medsker, Brock; Forno, Erick; Simhan, Hyagriv; Celedón, Juan C.

    2016-01-01

    Asthma is the most common chronic disease of childhood, affecting millions of children in the U.S. and worldwide. Prematurity is a risk factor for asthma, and certain ethnic or racial minorities such as Puerto Ricans and non-Hispanic Blacks are disproportionately affected by both prematurity and asthma. In this review, we examine current evidence to support maternal psychosocial stress as a putative link between prematurity and asthma, while also focusing on disruption of the hypothalamic-pituitary-adrenal (HPA) axis and immune responses as potential underlying mechanisms for stress-induced “premature asthma”. Prenatal stress may not only cause abnormalities in the HPA axis but also epigenetic changes in the fetal glucocorticoid receptor gene (NR3C1), leading to impaired glucocorticoid metabolism. Moreover, maternal stress can alter fetal cytokine balance, favoring Th2 (allergic) immune responses characteristic of atopic asthma: IL-6, which has been associated with premature labor, can promote Th2 responses by stimulating production of IL-4 and IL-13. Given a link among stress, prematurity, and asthma, future research should include birth cohorts aimed at confirming and better characterizing “premature asthma”. If confirmed, clinical trials of prenatal maternal stress reduction would be warranted to reduce the burden of these common co-morbidities. While awaiting the results of such studies, sound policies to prevent domestic and community violence (e.g. from firearms) are justified, not only by public safety but also by growing evidence of detrimental effects of violence-induced stress on psychiatric and somatic health. PMID:26676148

  17. Educational paper: Retinopathy of prematurity.

    Science.gov (United States)

    Casteels, Ingele; Cassiman, Catherine; Van Calster, Joachim; Allegaert, Karel

    2012-06-01

    Retinopathy of prematurity (ROP) is a proliferative retinal vascular disease affecting the premature infant with an incompletely vascularized retina. The spectrum of ophthalmological findings in ROP exists from minimal sequelae, which do not affect vision, to bilateral retinal detachment and total blindness. With the increased survival of very small infants, retinopathy of prematurity has become one of the leading causes of childhood blindness. Over the past two decades, major advances have been made in understanding the pathogenesis of ROP, to a large extent as a result of changes in clinical risk factors (oxygen and non-oxygen related) and characteristics observed in ROP cases. This article provides a literature review on the evolution in clinical characteristics, classification and treatment modalities and indications of ROP. Special attention is hereby paid to the neonatal factors influencing the development of ROP and to the necessity for everyone caring for premature babies to have a well-defined screening and treatment protocol for ROP. Such screening protocol needs to be based on a unit-specific ROP risk profile and, consequently, may vary between different European regions. Retinopathy of prematurity is an important cause of ocular morbidity and blindness in children. With better understanding of the pathogenesis, screening and treatment guidelines have changed over time and are unit specific.

  18. The Mediterranean diet adherence by pregnant women delivering prematurely: association with size at birth and complications of prematurity.

    Science.gov (United States)

    Parlapani, Elisavet; Agakidis, Charalampos; Karagiozoglou-Lampoudi, Thomais; Sarafidis, Kosmas; Agakidou, Eleni; Athanasiadis, Apostolos; Diamanti, Elisavet

    2017-11-13

    The Mediterranean diet (MD) is associated with decreased risk of metabolic syndrome and gestational diabetes due to the anti-inflammatory and antioxidative properties of its components. The aim was to investigate the potential association of MD adherence (MDA) during pregnancy by mothers delivering prematurely, with intrauterine growth as expressed by neonates' anthropometry at birth and complications of prematurity. This is a single-center, prospective, observational cohort study of 82 women who delivered preterm singletons at post conceptional age (PCA) ≤ 34 weeks and their live-born neonates. Maternal and neonatal demographic and clinical data were recorded. All mothers filled in a food frequency questionnaire, and the MDA score was calculated. Based on 50th centile of MD score, participants were classified into high-MDA and low-MDA groups. The low-MDA mothers had significantly higher pregestational BMI and rates of overweight/obesity (odd ratios (OR) 3.5) and gestational hypertension/preeclampsia (OR 3.8). Neonates in the low-MDA group had significantly higher incidence of intrauterine growth restriction (IUGR) (OR 3.3) and lower z-scores of birth weight and BMI. Regarding prematurity-related complications, the low MDA-group was more likely to develop necrotizing enterocolitis, bronchopulmonary dysplasia, and retinopathy of prematurity (OR 3.2, 1.3, and 1.6, respectively), while they were less likely to develop respiratory distress syndrome (OR 0.49), although the differences were not statistically significant. However, adjustment for confounders revealed MDA as a significant independent predictor of hypertension/preeclampsia, IUGR, birth weight z-score, necrotizing enterocolitis, and bronchopulmonary dysplasia. High MDA during pregnancy may favorably affect intrauterine growth and certain acute and chronic complications of prematurity as well as maternal hypertension/preeclampsia.

  19. PREMATURE RUPTURE OF THE MEMBRANES*

    African Journals Online (AJOL)

    In patients presenting with premature rupture of the membranes there are two factors which influence the foetal morbidity and mortality. These factors are prema- turity and intra-uterine infection. The purpose of this analysis was to elucidate which factor carried the greater risk to the foetus. Recently there has been a spate of.

  20. Mothers' Retrospections of Premature Childbirth.

    Science.gov (United States)

    Kalmar, Magda; And Others

    This study examined Hungarian mothers' recollections, 8 years after the birth of their premature baby, of their stress at the time of the baby's birth. Interviews were conducted with 30 mothers whose babies had been born between 30 and 37 weeks gestational age. At the time of the follow-up, all children had normal IQs and were attending normal…

  1. Noninvasive Ventilation in Premature Neonates.

    Science.gov (United States)

    Flanagan, Keri Ann

    2016-04-01

    The use of noninvasive ventilation is a constantly evolving treatment option for respiratory disease in the premature infant. The goals of these noninvasive ventilation techniques are to improve gas exchange in the premature infant's lungs and to minimize the need for intubation and invasive mechanical ventilation. The goals of this article are to consider various uses of nasal interfaces, discuss skin care and developmental positioning concerns faced by the bedside nurse, and discuss the medical management aimed to reduce morbidity and mortality. This article explores the nursing role, the advances in medical strategies for noninvasive ventilation, and the team approach to noninvasive ventilation use in this population. Search strategy included a literature review on medical databases, such as EBSCOhost, CINAHL, PubMed, and NeoReviews. Innovative products, nursing research on developmental positioning and skin care, and advanced medical management have led to better and safer outcomes for premature infants requiring noninvasive ventilation. The medical focus of avoiding long-term mechanical ventilation would not be possible without the technology to provide noninvasive ventilation to these premature infants and the watchful eye of the nurse in terms of careful positioning, preventing skin breakdown and facial scarring, and a proper seal to maximize ventilation accuracy. This article encourages nursing-based research to quantify some of the knowledge about skin care and positioning as well as research into most appropriate uses for noninvasive ventilation devices.

  2. 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…

  3. Complications of Prematurity - An Infographic

    Science.gov (United States)

    Chandrasekharan, Praveen; Rawat, Munmun; Lakshminrusimha, Satyan

    2017-01-01

    Infographics or information graphics are easy-to-understand visual representation of knowledge. An infographic outlining the course of an extremely preterm infant and various potential complications encountered during a neonatal intensive care unit (NICU) stay was developed. This infographic can be used to discuss outcomes of prematurity during prenatal counseling and while the infant is in the NICU. PMID:29138522

  4. 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.

  5. 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

  6. 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) (CPAP, mechanical ventilation, and exogenous surfactant increased survival and spurred the development of neonatal intensive care in the 1970s through the early 1990s. Routine administration of antenatal steroids during premature labor improved neonatal mortality and morbidity in the late 1990s. The recognition that chronic postnatal administration of steroids to infants should be avoided may have improved outcomes in the early 2000s. Evidence from recent trials attempting to define the appropriate target for oxygen saturation in preterm infants suggests arterial oxygen saturation between 91–95% (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

  7. 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

  8. Antenatal Bartter syndrome.

    Science.gov (United States)

    Afzal, Muhammad; Khan, Ejaz A; Khan, Wisal A; Anwar, Viqas; Yaqoob, Asma; Rafiq, Shahid; Azam, Shaheena

    2014-05-01

    Antenatal Bartter syndrome is characterized by severe polyhydramnios in mother leading to premature delivery. Antenatal treatment has proven effective to prevent these problems. Postnatally newborns suffer from recurrent episodes of severe dehydration and electrolyte imbalance which can lead to fatal outcome. These manifestations are likely to be overlooked and missed under the umbrella of diagnosis of prematurity. This premature newborn with antenatal polyhydramnios had severe manifestations of polyuria, recurrent dehydration, electrolyte derangements and metabolic alkalosis. She was managed accordingly but unfortunately could not survive beyond 4 weeks.

  9. FOETOMATERNAL AND NEONATAL OUTCOME OF PRETERM PREMATURE RUPTURE OF MEMBRANES

    Directory of Open Access Journals (Sweden)

    Kusumam Vilangot Nhalil

    2017-10-01

    Full Text Available BACKGROUND Preterm premature rupture of membrane is defined as rupture of foetal membrane before onset of labour at less than 37 completed weeks of gestation. Incidence of PPROM is around 3-10% of all deliveries. Primary complication for mother is infection and for foetus and neonate is prematurity, foetal distress, cord compression, deformation, pulmonary hypoplasia, necrotising enterocolitis and neurologic disorders. Most likely outcome is preterm delivery within 1 week. The aim of the study is to study the foetomaternal and neonatal outcome in PPROM patients and the common prevalent organism in PPROM. MATERIALS AND METHODS This is a cohort study of pregnant women from 24-37 weeks with PPROM admitted to IMCH for a period of 1 year, January 2016 to December 2016. 100 patients with PPROM were taken up for the study. The data was collected using the following inclusion and exclusion criteria. Inclusion criteria are gestational age 24-37 weeks confirmed by dates, clinical examination and ultrasound with lack of uterine contractions for at least 1 hour from PPROM; single live pregnancy in vertex presentation; PPROM confirmed by direct visualisation, neonates admitted in NICU soon after delivery. RESULTS 49% of patients with preterm premature rupture of membranes were from 18-24 years.68% of patients had a latency period of 3 weeks.15% of patients had maternal tachycardia, 4% had tenderness of uterus and 4% had leucocytosis and 14% had an elevated CRP. Thus, clinical chorioamnionitis was seen in 14% of patients, 38% of babies born had prematurity and 2% had sepsis and 19% had respiratory distress syndrome and hyperbilirubinaemia, 2% had perinatal asphyxia, 2% had anomalies, 1% had necrotising enterocolitis and 5% were NND. Common organisms were normal flora, E. coli, Streptococci and Enterococci. CONCLUSION PPROM increases the incidence of maternal morbidity with longer hospital stay due to chorioamnionitis. Neonatal morbidity is increased due to

  10. Pulmonary emphysema in a neonate with Marfan syndrome

    Energy Technology Data Exchange (ETDEWEB)

    Day, D L; Burke, B A

    1986-09-01

    A premature infant with arachnodactyly and congential cyanotic heart disease had severe pulmonary emphysema, a little-known manifestation of Marfan syndrome. The possible etiologies of emphysema in this syndrome are discussed.

  11. Pulmonary emphysema in a neonate with Marfan syndrome

    International Nuclear Information System (INIS)

    Day, D.L.; Burke, B.A.

    1986-01-01

    A premature infant with arachnodactyly and congential cyanotic heart disease had severe pulmonary emphysema, a little-known manifestation of Marfan syndrome. The possible etiologies of emphysema in this syndrome are discussed. (orig.)

  12. Analysis on screening results of 2 203 premature infants with retinopathy

    Directory of Open Access Journals (Sweden)

    Qian Wang

    2018-06-01

    Full Text Available AIM: To investigate the incidence and risk factors of retinopathy of prematurity(ROPin preterm infants. METHODS: The wide-field digital pediatric Retinal imaging system was used to screen 2 203 preterm infants with gestational age RESULTS: Totally 367 infants(621 eyeswere diagnosed as retinopathy among 2 203 premature infants and the incidence of ROP was 16.66%; 236 cases(399 eyesof ROP(26.61%were detected in 887 cases of premature infants in accord with screening standard of the Chinese Premature Retinopathy Screening Guidelines(2014, and 131 cases(222 eyesof ROP(9.95%was detected in 1 316 cases of premature infants outside the screening standard. In our research, the incidence of ROP was related with gestational age, birth weight, oxygen duration and mechanical ventilation. However, the relationship had not been found with artificial insemination, caesarean birth, gender, polyembryony, acute respiratory distress syndrome(ARDS, hypertensive disorders in pregnancy, gestational diabetes mellitus, intrauterine infection, intrauterine distress, premature rupture of membrane. The incidence of ROP was statistically significant between different gestational age groups, different birth weight groups and different oxygen groups(PCONCLUSION: The incidence of ROP is 16.66% in this study, and there is still a certain proportion outside the screening standard of the Chinese Premature Retinopathy Screening Guidelines(2014. Gestational age, birth weight, oxygen duration and mechanical ventilation are high risk factors for ROP.

  13. Clinical significance of radioimmunological HPL findings in long-term management of premature delivery risk

    International Nuclear Information System (INIS)

    Ruckhaeberle, K.-E.; Bilek, K.; Viehweg, B.; Kuehndel, K.; Colditz, U.; Baer, G.

    1981-01-01

    Premature birth is not only characterized by premature delivery action but it is ever more frequently interpreted as the disturbed fetoplacental unit syndrome. In an attempt to therapeutically prevent premature delivery the placental function should be monitored. Possible intrauterine survival should be assessed as accurately as possible against extrauterine survival in order that the necessary tocolysis time could be determined. In our observations, clinical significance was studied of radioimmunologically determined HPL values in the serum under tocolysis conditions at premature birth risk on the basis of postnatal classification of the postnatal condition and of the particularity of the adaptation phase of the neonates. The significance of HPL determination in checking the fetoplacental unit during tocolysis should be arrived at while also using other diagnostic techniques, such as oxytocinase or estriol, ultrasound biometry, cardiotocography. (author)

  14. 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

  15. Prostate Cancer Diagnostics and Prognostics Based on Interphase Spatial Genome Positioning

    Science.gov (United States)

    2016-03-01

    in lamin A/C and include Emery-Dreifuss muscular dystrophy (EDMD) and the premature aging disease Hutchison-Gilford progeria syndrome (HGPS) (Burke...P a g e Zhang Y, McCord RP, Ho YJ, Lajoie BR, Hildebrand DG, Simon AC, Becker MS, Alt FW, Dekker J (2012) Spatial organization of the mouse...diseases characterized by mutations in lamin A/C, and includes Emery-Dreifuss 483 muscular dystrophy and the premature aging disease Hutchinson-Gilford

  16. Thrombin contributes to bronchoalveolar lavage fluid mitogenicity in lung disease of the premature infant

    NARCIS (Netherlands)

    Dik, Willem A.; Zimmermann, Luc J. I.; Naber, Brigitta A.; Janssen, Daphne J.; van Kaam, Anton H. L. C.; Versnel, Marjan A.

    2003-01-01

    Chronic lung disease of prematurity (CLD) is a common consequence of neonatal respiratory distress syndrome (RDS) and is characterized by pulmonary fibrosis. Increased thrombin activity in the alveolar compartment is associated with pulmonary fibrosis in adults and animals, and contributes to

  17. xidative Stress and Retinopathy of Prematurity

    OpenAIRE

    Ümeyye Taka Aydın; Hatip Aydın; Osman Çekiç

    2014-01-01

    Oxidative stress plays an important role in the etiology of retinopathy of prematurity. Insufficient antioxidant system and increased oxidative stress in premature infants lead to the development of the disease. Understanding the mechanism of oxidative stress and antioxidant system and the related signaling pathways contribute to the development of novel options for diagnosis and treatment of retinopathy of prematurity. The current review aimed to evaluate the relationship between ox...

  18. [Laser treatment for retinopathy of prematurity in neonatal intensive care units. Premature Eye Rescue Program].

    Science.gov (United States)

    Maka, Erika; Imre, László; Somogyvári, Zsolt; Németh, János

    2015-02-01

    Retinopathy of prematurity is a leading cause of childhood blindness around the world. The Department of Ophthalmology at the Semmelweis University and the Peter Cerny Neonatal Emergency and Ambulance Service started an innovative Premature Eye Rescue Program to reduce the non-essential transport of premature babies suffering from retinopathy of prematurity. During the first 5 years 186 eyes of 93 premature babies were treated at the bedside with stage 3 retinopathy of prematurity in the primary hospitals. In this first 5-years period the authors reduced the number of transports of premature babies for laser treatment; 93 children avoided the unnecessary transport, saving altogether a distance of 21,930 kilometers for children, as well as the ambulance service. The Premature Eye Rescue Program offers a good and effective alternative for treatment of retinopathy in the primary hospitals. The authors propose the national extension of this program.

  19. 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.

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

    DEFF Research Database (Denmark)

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

    2015-01-01

    model to study the possibility of recovering from HGPS bone disease upon silencing of the HGPS mutation, and the potential benefits from treatment with resveratrol. We show that complete silencing of the transgenic expression of progerin normalized bone morphology and mineralization already after 7...... weeks. The improvements included lower frequencies of rib fractures and callus formation, an increased number of osteocytes in remodeled bone, and normalized dentinogenesis. The beneficial effects from resveratrol treatment were less significant and to a large extent similar to mice treated with sucrose...... alone. However, the reversal of the dental phenotype of overgrown and laterally displaced lower incisors in HGPS mice could be attributed to resveratrol. Our results indicate that the HGPS bone defects were reversible upon suppressed transgenic expression and suggest that treatments targeting aberrant...

  1. Nuclear renaissance or premature try

    International Nuclear Information System (INIS)

    Coderch, M.

    2008-01-01

    After the economic failure of the 70's and not having been able to solve for decades its multiple problems, the nuclear industry was suffering a slow but inescapable agony. However, the need to reduce CO 2 emissions and the likely arrival of the worldwide peak of oil production have infused new life to the nuclear option, and it has again become one of the main topics of discussion in the worldwide energy debate. But in this debate we tend to forget that the causes of the abrupt end of the first nuclear era have not disappeared, and that for this reason it may well be that we are lead to a repetition of the events that induced its first demise. The much talked nuclear renaissance is thus likely to end up as a premature miscarriage. (Author)

  2. Retinopathy of Prematurity in Triplets

    Directory of Open Access Journals (Sweden)

    Mehmet Ali Şekeroğlu

    2016-06-01

    Full Text Available Objectives: To investigate the incidence, severity and risk factors of retinopathy of prematurity (ROP in triplets. Materials and Methods: The medical records of consecutive premature triplets who had been screened for ROP in a single maternity hospital were analyzed and presence and severity of ROP; birth weight, gender, gestational age of the infant; route of delivery and the mode of conception were recorded. Results: A total of 54 triplets (40 males, 14 females who were screened for ROP between March 2010 and February 2013 were recruited for the study. All triplets were delivered by Caesarean section and 36 (66.7% were born following an assisted conception. During follow-up, seven (13% of the infants developed ROP of any stage and two (3.7% required laser photocoagulation. The mean gestational age of triplets with ROP was 27.6±1.5 (27-31 weeks whereas it was 32.0±1.5 (30-34 weeks in those without ROP (p=0.002. The mean birth weights of triplets with and without ROP were 1290.0±295.2 (970-1600 g and 1667.5±222.2 (1130-1960 g, respectively (p<0.001. The presence of ROP was not associated with gender (p=0.358 or mode of conception (p=0.674. Conclusion: ROP in triplets seems to be mainly related to low gestational age and low birth weight. Further prospective randomized studies are necessary to demonstrate risk factors of ROP in triplets and to determine if and how gemelarity plays a role in the development of ROP.

  3. 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.

  4. 7 CFR 29.1050 - Prematurity.

    Science.gov (United States)

    2010-01-01

    ... 7 Agriculture 2 2010-01-01 2010-01-01 false Prematurity. 29.1050 Section 29.1050 Agriculture Regulations of the Department of Agriculture AGRICULTURAL MARKETING SERVICE (Standards, Inspections, Marketing... Type 92) § 29.1050 Prematurity. A condition of growth and development characteristic of the lower...

  5. Premature infants' health at multiple induced pregnancy.

    Directory of Open Access Journals (Sweden)

    Chernenkov Yu.V.

    2015-09-01

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

  6. 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

  7. Psychosocial interventions for premature ejaculation

    Directory of Open Access Journals (Sweden)

    Tamara Melnik

    Full Text Available BACKGROUND: Premature ejaculation (PE is a very common sexual dysfunction among patients, and with varying prevalence estimates ranging from 3% to 20%. Although psychological issues are present in most patients with premature PE, as a cause or as a consequence, research on the effects of psychological approaches for PE has in general not been controlled or randomised and is lacking in long-term follow up. OBJECTIVE: To assess the efficacy of psychosocial interventions for PE. CRITERIA FOR CONSIDERING STUDIES FOR THIS REVIEW: Trials were searched in computerized general and specialized databases, such as: MEDLINE by PubMed (1966 to 2010; PsycINFO (1974 to 2010; EMBASE (1980 to 2010; LILACS (1982 to 2010; the Cochrane Central Register of Controlled Trials (Cochrane Library, 2010; and by checking bibliographies, and contacting manufacturers and researchers. SELECTION CRITERIA: Randomised or quasi-randomised controlled trials evaluating psychosocial interventions compared with different psychosocial interventions, pharmacological interventions, waiting list, or no treatment for PE. DATA COLLECTION AND ANALYSIS: Information on patients, interventions, and outcomes was extracted by at least two independent reviewers using a standard form. The primary outcome measure for comparing the effects of psychosocial interventions to waiting list and standard medications was improvement in IELT (i.e., time from vaginal penetration to ejaculation. The secondary outcome was change in validated PE questionnaires. MAIN RESULTS: In one study behavioral therapy (BT was significantly better than waiting list for duration of intercourse (MD (mean difference 407.90 seconds, 95% CI 302.42 to 513.38, and couples' sexual satisfaction (MD -26.10, CI -50.48 to -1.72. BT was also significantly better for a new functional-sexological treatment (FS (MD 412.00 seconds, 95% CI 305.88 to 518.12, change over time in subjective perception of duration of intercourse (Women: MD 2

  8. Acute appendicitis in a premature baby

    International Nuclear Information System (INIS)

    Beluffi, Giampiero; Alberici, Elisa

    2002-01-01

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

  9. Social support for parents of premature infants

    Directory of Open Access Journals (Sweden)

    Agnieszka Skurzak

    2018-03-01

    Full Text Available Prematurity is still an actual medical problem. Significant increase in the survival rate of premature babies is observed due to the progress in perinatal care .Usually, parents are not prepared for a premature birth, for the majority of them the hospitalization of a child in neonatal intensive care unit is a source of fear,  moreover parents often blame themselves for the situation. Appearing emotions and questions require a compatible response from the therapeutic team. The most important activity in the practice of the team is emotional, informative, evaluative support.

  10. The epidemiology of premature ejaculation.

    Science.gov (United States)

    Saitz, Theodore Robert; Serefoglu, Ege Can

    2016-08-01

    Vast advances have occurred over the past decade with regards to understanding the epidemiology, pathophysiology and management of premature ejaculation (PE); however, we still have much to learn about this common sexual problem. As a standardized evidence-based definition of PE has only recently been established, the reported prevalence rates of PE prior to this definition have been difficult to interpret. As a result, a large range of conflicting prevalence rates have been reported. In addition to the lack of a standardized definition and operational criteria, the method of recruitment for study participation and method of data collection have obviously contributed to the broad range of reported prevalence rates. The new criteria and classification of PE will allow for continued research into the diverse phenomenology, etiology and pathogenesis of the disease to be conducted. While the absolute pathophysiology and true prevalence of PE remains unclear, developing a better understanding of the true prevalence of the disease will allow for the completion of more accurate analysis and treatment of the disease.

  11. [Psychologic management of extreme prematurity].

    Science.gov (United States)

    Granboulan, V; Danan, C; Dassieu, G; Janaud, J C; Durand, B

    1995-05-01

    The ongoing progress in neonatal intensive care is modifying the psychic context of prematurity for all the partners, infants as well as parents and physicians. Comfort and prognosis of preterm infants have much improved. Since newborns under 24 weeks of gestational age are now surviving, they spend approximately half the duration of pregnancy out of the maternal uterus. All the psychological issues of such an early separation have to be considered, including the developmental outcome of a sensorial environment which is quite different from the intra-uterine one. Research has been developing in this field. The cooperation between neonatalogists and psychologists has been profitable to parents. Problems linked to the separation, such as difficulty in representing the infant, are no more frequent owing to the attention paid to the mother-child bond and subsequent early contacts. What is forward now is the impact of an hyper technical world of intensive care on the parents, and of the strange aspect of the tiny baby surrounded by engines and tubes. Such an overpresence of reality often results in a reaction of traumatic daziness among parents. The cooperation of the whole staff is necessary for the resumption of an imaginary process of psychic functioning. Finally, the survival of very-low-birth-weight infants confronts the neonatalogists with some delicate ethical questions. Psychiatrists and psychologists might have an important part to play in aiding the profession in its sorting out of these ethical issues.

  12. 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.

  13. 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.

  14. Retinal vascular speed prematurity requiring treatment.

    Science.gov (United States)

    Solans Pérez de Larraya, Ana M; Ortega Molina, José M; Fernández, José Uberos; Escudero Gómez, Júlia; Salgado Miranda, Andrés D; Chaves Samaniego, Maria J; García Serrano, José L

    2018-03-01

    To analyse the speed of temporal retinal vascularisation in preterm infants included in the screening programme for retinopathy of prematurity. A total of 185 premature infants were studied retrospectively between 2000 and 2017 in San Cecilio University Hospital of Granada, Spain. The method of binocular indirect ophthalmoscopy with indentation was used for the examination. The horizontal disc diameter was used as a unit of length. Speed of temporal retinal vascularisation (disc diameter/week) was calculated as the ratio between the extent of temporal retinal vascularisation (disc diameter) and the time in weeks. The weekly temporal retinal vascularisation (0-1.25 disc diameter/week, confidence interval) was significantly higher in no retinopathy of prematurity (0.73 ± 0.22 disc diameter/week) than in stage 1 retinopathy of prematurity (0.58 ± 0.22 disc diameter/week). It was also higher in stage 1 than in stages 2 (0.46 ± 0.14 disc diameter/week) and 3 of retinopathy of prematurity (0.36 ± 0.18 disc diameter/week). The rate of temporal retinal vascularisation (disc diameter/week) decreases when retinopathy of prematurity stage increases. The area under the receiver operating characteristic curve was 0.85 (95% confidence interval: 0.79-0.91) for retinopathy of prematurity requiring treatment versus not requiring treatment. The best discriminative cut-off point was a speed of retinal vascularisation prematurity may be required. However, before becoming a new standard of care for treatment, it requires careful documentation, with agreement between several ophthalmologists.

  15. 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.

  16. 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.

  17. 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.

  18. Prematures with and without Regressed Retinopathy of Prematurity: Comparison of Long-Term (6-10 Years) Ophthalmological Morbidity.

    Science.gov (United States)

    Cats, Bernard P.; Tan, Karel E. W. P.

    Reporting long-term ophthalmologic sequelae among ex-prematures at 6 to 10 years of age, this study compares 42 ex-premature infants who had had regressed forms of retinopathy of prematurity (ROP) during the neonatal period with 42 matched non-ROP ex-premature controls at 6 to 10 years of age. Subjects were subdivided into four groups: (1) ROP…

  19. 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

  20. The role of serial measurements of serum insulin-like growth factor 1 levels in the development of retinopathy of prematurity.

    Science.gov (United States)

    Dorum, Bayram Ali; Yılmaz, Cansu Canbolat; Köksal, Nilgün; Özkan, Hilal; Yıldız, Meral; Özmen, Ahmet Tuncer

    2017-03-01

    To determine the role of serum insulin-like growth factor-1 levels in the development of retinopathy of prematurity, which is a major cause of childhood blindness worldwide. We prospectively studied newborn infants born at a postmenstrual age of prematurity screening and follow-up. Retinopathy of prematurity was classified according to the international classification of retinopathy of prematurity. Serum Insulin like growth factor 1 levels were measured serially in blood samples on the 1 st , 3 rd , 7 th , 21 st , and 28 th day. Among the 40 infants, 11 (27.5%) constituted the retinopathy of prematurity group and 29 comprised the non-retinopathy of prematurity group. In the retinopathy of prematurity group, the mean gestational age and birth weight was significantly lower. The demographic features of the study cohort were similar. The duration of mechanical ventilation was significantly greater in the retinopathy of prematurity group compared with the non-retinopathy of prematurity group (p=0.036). In terms of neonatal morbidities such as respiratory distress syndrome, intraventricular hemorrhage, bronchopulmonary dysplasia, patent ductus arteriosus, and necrotizing enterocolitis, no differences were detected between the groups. The mean serum insulin-like growth factor-1 levels in retinopathy of prematurity group were significantly lower than those in the non-retinopathy of prematurity group at each time point (1 st , 3 rd , 7 th , 21 st , and 28 th day of postnatal life) (p=0.001). This study demonstrated the low serum insulin-like growth factor-1 levels was associated with retinopathy of prematurity development.

  1. 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.

  2. Wolfram syndrome 1 and Wolfram syndrome 2.

    Science.gov (United States)

    Rigoli, Luciana; Di Bella, Chiara

    2012-08-01

    Wolfram syndrome 1 (WS1) is an autosomal recessive disorder characterized by diabetes insipidus, diabetes mellitus, optic atrophy, and deafness (DI DM OA D syndrome) associated with other variable clinical manifestations. The causative gene for WS1 (WFS1) encoding wolframin maps to chromosome 4p16.1. Wolframin has an important function in maintaining the homeostasis of the endoplasmic reticulum (ER) in pancreatic β cells. Recently, another causative gene, CISD2, has been identified in patients with a type of Wolfram syndrome (WS2) resulting in early optic atrophy, diabetes mellitus, deafness, decreased lifespan, but not diabetes insipidus. The CISD2-encoded protein ERIS (endoplasmic reticulum intermembrane small protein) also localizes to ER, but does not interact directly with wolframin. ERIS maps to chromosome 4q22. Numerous studies have shown an interesting similarity between WFS1 and CISD2 genes. Experimental studies demonstrated that the Cisd2 knockout (Cisd2) mouse shows premature aging and typical symptoms of Wolfram syndrome. These researches provide interesting insight into the relation of neurodegenerative diseases, mitochondrial disorders, and autophagy and are useful for the pathophysiological understanding of both Wolfram syndrome and mitochondrial-mediated premature aging. The knowledge of WS1 and WS2 pathogenesis, and of the interactions between WFS1 and CISD2 genes, is useful for accurate diagnostic classification and for diagnosis of presymptomatic individuals.

  3. Case Report - Neonatal progeroid syndrome (Wiedemann ...

    African Journals Online (AJOL)

    Case Report - Neonatal progeroid syndrome (Wiedemann-Rautenstrauch syndrome) in an Egyptian child with premature loss of teeth, and café au lait skin ... pads in the suprabuttock areas, triangular face, pseudohydrocephalous, sparse scalp hair and eyebrows, prominent scalp veins, greatly widened anterior fontanels, ...

  4. 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

  5. Calculation of organ doses in X-ray examinations of premature babies

    International Nuclear Information System (INIS)

    Smans, K.

    2009-01-01

    As ionizing radiation has enabled great progress in the diagnostic and therapeutic aspects of medicine, its use is in most cases easily justifiable. General radiation protection principles require additionally that radiation doses of the patients should be as low as reasonably achievable within the medical purposes. In Europe this is stipulated in the directive 97/43/Euratom. This directive also requires that special attention should be given to the patient doses in pediatric examinations, of which premature babies constitute an important sub-group. All babies born before 37 weeks of gestation are defined as being prematurely born. Newborn and prematurely born babies are particularly sensitive to the detrimental effects of X-rays. Risk of cancer induction is believed to be 2 to 3 times higher than that of the average population and 6 to 9 times higher than the risk from an exposure at 60 years of age, for equal dose. A premature born child may be exposed to a large number of diagnostic X-ray examinations. Several of these infants may have underdeveloped lungs, which may lead directly to the respiratory distress syndrome (RDS) or to (lethal) lunghypoplasia/hypertension. Diagnosis and follow-up of the respiratory distress syndrome by means of chest radiography is justified. Risks associated with X-ray examinations are low compared to the other medical risks that these patients face, but even in this case the radiation dose should be kept as low as possible. Knowledge of the radiation dose is a first step in the optimization process. A recent study on 255 premature children in the University Hospital of Gasthuisberg found that they undergo 10 X-ray examinations, on the average. In this sample, the maximum was 78 X-ray examinations

  6. 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

  7. 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...

  8. Follow-up study on premature infants with and without retinopathy of prematurity.

    OpenAIRE

    Robinson, R; O'Keefe, M

    1993-01-01

    The ocular complications in population of 131 premature infants, with and without retinopathy of prematurity (ROP) are reported. An increased incidence of strabismus (20% with ROP and 25% without ROP) and myopia (27.5% with ROP and 8.8% without ROP) was shown. Significant visual loss occurred in 10.7% overall, increasing to 35% with stage 3 disease and 100% with stage 4. With the increased survival rate of premature infants, the relevance to future management of this expanding group of young ...

  9. Premature adrenarche: novel lessons from early onset androgen excess.

    Science.gov (United States)

    Idkowiak, Jan; Lavery, Gareth G; Dhir, Vivek; Barrett, Timothy G; Stewart, Paul M; Krone, Nils; Arlt, Wiebke

    2011-08-01

    Adrenarche reflects the maturation of the adrenal zona reticularis resulting in increased secretion of the adrenal androgen precursor DHEA and its sulphate ester DHEAS. Premature adrenarche (PA) is defined by increased levels of DHEA and DHEAS before the age of 8 years in girls and 9 years in boys and the concurrent presence of signs of androgen action including adult-type body odour, oily skin and hair and pubic hair growth. PA is distinct from precocious puberty, which manifests with the development of secondary sexual characteristics including testicular growth and breast development. Idiopathic PA (IPA) has long been considered an extreme of normal variation, but emerging evidence links IPA to an increased risk of developing the metabolic syndrome (MS) and thus ultimately cardiovascular morbidity. Areas of controversy include the question whether IPA in girls is associated with a higher rate of progression to the polycystic ovary syndrome (PCOS) and whether low birth weight increases the risk of developing IPA. The recent discoveries of two novel monogenic causes of early onset androgen excess, apparent cortisone reductase deficiency and apparent DHEA sulphotransferase deficiency, support the notion that PA may represent a forerunner condition for PCOS. Future research including carefully designed longitudinal studies is required to address the apparent link between early onset androgen excess and the development of insulin resistance and the MS.

  10. 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.

  11. Osteopenia (metabolic bone disease) of prematurity

    Science.gov (United States)

    Osteopenia is defined as postnatal bone mineralization that is inadequate to fully mineralize bones. Osteopenia occurs commonly in very low birth weight (VLBW) infants. Prior to the use of high-mineral containing diets for premature infants, which is the current practice, significant radiographic ch...

  12. Psychological and Educational Sequelae of Prematurity

    Science.gov (United States)

    Rubin, Rosalyn A.; And Others

    1973-01-01

    Psychological and educational correlates of prematurity in children during four periods, the last at 7 years of age, were assessed as part of a prospective longitudinal study of 241 infants classified by birth weight, gestational age, and sex to determine later functioning in school. (Author/MC)

  13. 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 ... PROM (P < 0.000), latency period (P < 0.000), and birth weight (P < 0.001). ..... J Obstet Gynecol 2000;183:271‑6. 25. Mercer ...

  14. The relationship between self-estimated intravaginal ejaculatory latency time and International Prostate Symptom Score in middle-aged men complaining of ejaculating prematurely in China.

    Science.gov (United States)

    Zhang, Xiansheng; Tang, Dongdong; Xu, Chuan; Gao, Pan; Hao, Zongyao; Zhou, Jun; Liang, Chaozhao

    2015-03-01

    Some factors associated with the four premature ejaculation (PE) syndromes have been studied, but the association between International Prostate Symptom Score (IPSS) and the four PE syndromes has not been investigated. We performed this study to evaluate the association between IPSS and intravaginal ejaculatory latency time (IELT) in men with the four PE syndromes. From June 2012 to January 2014, a total of 690 men aged 40-59 years complaining of ejaculating prematurely and another 452 male healthy subjects of the same age without these complaints were included in this study. Men with the complaints of ejaculating prematurely were classified as one of the four PE syndromes: lifelong PE, acquired PE (APE), variable PE, and subjective PE. Each of them completed a detailed questionnaire including information on demographics, medical and sexual history (e.g., self-estimated IELT), IPSS, and International Index of Erectile Function-5. Associations between IPSS and self-estimated IELT in middle-aged men with the four PE syndromes. Men complaining of ejaculating prematurely reported higher IPSS (11.2 ± 6.0 vs. 5.5 ± 3.3 ) and shorter self-estimated IELT (2.1 ± 1.6 minutes vs. 4.8 ± 3.3) than men without complaints (P men with the four PE syndromes showed significant correlations with IPSS (P men with PE complaints (adjusted r = -0.378, P men with APE (adjusted r = -0.502, P Men complaining of ejaculating prematurely reported worse IPSS than men without these complaints. Self-estimated IELT was negatively associated with IPSS in men complaining of ejaculating prematurely, and the correlation was the strongest in men with APE. © 2015 International Society for Sexual Medicine.

  15. Risk Factors for premature birth in a hospital 1

    OpenAIRE

    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

  16. 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.

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

    OpenAIRE

    Tahir M. Malla; Arshad A. Pandith; Fayaz A. Dar; Mahrukh H. Zargar

    2016-01-01

    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. Conve...

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

    African Journals Online (AJOL)

    The presence of premature graying of hair was associated with 3.24 times the risk of CAD on multiple logistic regression analysis. CONCLUSION: The presence of premature graying of hair was associated with an increased risk of CAD in young smokers. Premature graying of hair can be used as preliminary evidence by ...

  19. Wolfram Syndrome: Diagnosis, Management, and Treatment.

    Science.gov (United States)

    Urano, Fumihiko

    2016-01-01

    Wolfram syndrome is a rare genetic disorder characterized by juvenile-onset diabetes mellitus, diabetes insipidus, optic nerve atrophy, hearing loss, and neurodegeneration. Although there are currently no effective treatments that can delay or reverse the progression of Wolfram syndrome, the use of careful clinical monitoring and supportive care can help relieve the suffering of patients and improve their quality of life. The prognosis of this syndrome is currently poor, and many patients die prematurely with severe neurological disabilities, raising the urgency for developing novel treatments for Wolfram syndrome. In this article, we describe natural history and etiology, provide recommendations for diagnosis and clinical management, and introduce new treatments for Wolfram syndrome.

  20. 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.

  1. Conceptualizing pathways linking women's empowerment and prematurity in developing countries.

    Science.gov (United States)

    Afulani, Patience A; Altman, Molly; Musana, Joseph; Sudhinaraset, May

    2017-11-08

    Globally, prematurity is the leading cause of death in children under the age of 5. Many efforts have focused on clinical approaches to improve the survival of premature babies. There is a need, however, to explore psychosocial, sociocultural, economic, and other factors as potential mechanisms to reduce the burden of prematurity. Women's empowerment may be a catalyst for moving the needle in this direction. The goal of this paper is to examine links between women's empowerment and prematurity in developing settings. We propose a conceptual model that shows pathways by which women's empowerment can affect prematurity and review and summarize the literature supporting the relationships we posit. We also suggest future directions for research on women's empowerment and prematurity. The key words we used for empowerment in the search were "empowerment," "women's status," "autonomy," and "decision-making," and for prematurity we used "preterm," "premature," and "prematurity." We did not use date, language, and regional restrictions. The search was done in PubMed, Population Information Online (POPLINE), and Web of Science. We selected intervening factors-factors that could potentially mediate the relationship between empowerment and prematurity-based on reviews of the risk factors and interventions to address prematurity and the determinants of those factors. There is limited evidence supporting a direct link between women's empowerment and prematurity. However, there is evidence linking several dimensions of empowerment to factors known to be associated with prematurity and outcomes for premature babies. Our review of the literature shows that women's empowerment may reduce prematurity by (1) preventing early marriage and promoting family planning, which will delay age at first pregnancy and increase interpregnancy intervals; (2) improving women's nutritional status; (3) reducing domestic violence and other stressors to improve psychological health; and (4) improving

  2. RESEARCH ON REDUCING PREMATURITY RUPTURE OF MEMBRANE

    OpenAIRE

    Maria URSACHI (BOLOTA); Emil ANTON; Sorana Caterina ANTON

    2016-01-01

    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 amn...

  3. Retinopathy of prematurity: the need for prevention

    Science.gov (United States)

    Liegl, Raffael; Hellström, Ann; Smith, Lois EH

    2016-01-01

    More than 450,000 babies are born prematurely in the USA every year. The improved survival of even the most vulnerable low body weight preterm infants has, despite improving health outcomes, led to the resurgence in preterm complications including one of the major causes for blindness in children, retinopathy of prematurity (ROP). The current mainstay in ROP therapy is laser photocoagulation and the injection of vascular endothelial growth factor (VEGF) antibodies in the late stages of the disease after the onset of neovascularization. Both are proven options for ophthalmologists to treat the severe forms of late ROP. However, laser photocoagulation destroys major parts of the retina, and the injection of VEGF antibodies, although rather simple to administer, may cause a systemic suppression of normal vascularization, which has not been studied in sufficient depth. However, the use of neither VEGF antibody nor laser treatment prevents ROP, which should be the long-term goal. It should be possible to prevent ROP by more closely mimicking the intrauterine environment after preterm birth. Such preventive measures include preventing the toxic postbirth influences (eg, oxygen excess) as well as providing the missing intrauterine factors (eg, insulin growth factor 1) and are likely to also reduce other complications of premature birth as well as ROP. This review is meant to summarize the current knowledge on the prevention of ROP with a particular emphasize on the use of insulin growth factor 1 supplementation. PMID:28539804

  4. Open bite in prematurely born children.

    Science.gov (United States)

    Harila, V; Heikkinen, T; Grön, M; Alvesalo, L

    2007-01-01

    The aims of this study were to: examine the expression of open bite in prematurely born children and discuss the etiological factors that may lead to bite it. The subjects were 328 prematurely born (cross-sectional study of the Collaborative Perinatal Project in the 1960s and 1970s. Dental documents, including casts and photographs, were taken once at the age of 6-12 years in the mixed dentition. The occlusion was recorded by examining and measuring the hard stone casts. Vertical open bite was recorded only for full erupted teeth. The statistical method used was chi-square analysis. Significant differences in the incidence of anterior open bite (from left to right canine) was found between the preterm and control groups and between gender and ethnic groups. The prevalence of anterior open bite was nearly 9% in the preterm group and almost 7% in the control group. African Americans (9%) had a significantly greater incidence of open bite than Caucasians (3%; Pbite than boys (8% vs 6%; Pbite was increased--especially in preterm African American boys compared to controls (11% vs 8%). The results show differences in the development of anterior open bite between ethnic and gender groups. Premature birth may also influence dental occlusal development. Of importance are the patient's: general health condition; respiratory infections; inadequate nasal- and mouth-breathing; oral habits; and other medical problems. Preterm children may be relatively more predisposed to etiological factors for the development of anterior open bite.

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

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    Roxana Sadeghi

    2013-06-01

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

  6. Prematurity Affects Age of Presentation of Pyloric Stenosis.

    Science.gov (United States)

    Costanzo, Caitlyn M; Vinocur, Charles; Berman, Loren

    2017-02-01

    Term infants with hypertrophic pyloric stenosis (HPS) typically present between 4 and 6 weeks. There is limited consensus, however, regarding age of presentation of premature infants. We aim to determine if there is an association between the degree of prematurity and chronological age of presentation of HPS. A total of 2988 infants who had undergone a pyloromyotomy for HPS were identified from the 2012 and 2013 NSQIP-P Participant Use Files. Two hundred seventeen infants (7.3%) were born prematurely. A greater degree of prematurity was associated with an older chronological age of presentation ( P Prematurity was significantly associated with an increase in overall postoperative morbidity, reintubation, readmission, and postoperative length of stay. When clinicians evaluate an infant with nonbilious emesis with a history of prematurity, they should consider pyloric stenosis if the calculated postconceptional age is between 44 and 50 weeks. When counseling families of premature infants, surgeons should discuss the increased incidence of postpyloromyotomy morbidity.

  7. Assessment of hormonal activity in patients with premature ejaculation

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    Lütfi Canat

    Full Text Available ABSTRACT Purpose Premature ejaculation is considered the most common type of male sexual dysfunction. Hormonal controls of ejaculation have not been exactly elucidated. The aim of our study is to investigate the role of hormonal factors in patients with premature ejaculation. Materials and Methods Sixty-three participants who consulted our outpatient clinics with complaints of premature ejaculation and 39 healthy men as a control group selected from volunteers were included in the study. A total of 102 sexual active men aged between 21 and 76 years were included. Premature ejaculation diagnostic tool questionnaires were used to assessment of premature ejaculation. Serum levels of follicle stimulating hormone, luteinizing hormone, prolactin, total and free testosterone, thyroid-stimulating hormone, free triiodothyronine and thyroxine were measured. Results Thyroid-stimulating hormone, luteinizing hormone, and prolactin levels were significantly lower in men with premature ejaculation according to premature ejaculation diagnostic tool (p=0.017, 0.007 and 0.007, respectively. Luteinizing hormone level (OR, 1.293; p=0.014 was found to be an independent risk factor for premature ejaculation. Conclusions Luteinizing hormone, prolactin, and thyroid-stimulating hormone levels are associated with premature ejaculation which was diagnosed by premature ejaculation diagnostic tool questionnaires. The relationship between these findings have to be determined by more extensive studies.

  8. A new way of thinking about complications of prematurity.

    Science.gov (United States)

    Moore, Tiffany A; Berger, Ann M; Wilson, Margaret E

    2014-01-01

    The morbidity and mortality of preterm infants are impacted by their ability to maintain physiologic homeostasis using metabolic, endocrine, and immunologic mechanisms independent of the mother's placenta. Exploring McEwen's allostatic load model in preterm infants provides a new way to understand the altered physiologic processes associated with frequently occurring complications of prematurity such as bronchopulmonary dysplasia, intraventricular hemorrhage, necrotizing enterocolitis, and retinopathy of prematurity. The purpose of this article is to present a new model to enhance understanding of the altered physiologic processes associated with complications of prematurity. The model of allostatic load and complications of prematurity was derived to explore the relationship between general stress of prematurity and complications of prematurity. The proposed model uses the concepts of general stress of prematurity, allostasis, physiologic response patterns (adaptive-maladaptive), allostatic load, and complications of prematurity. These concepts are defined and theoretical relationships in the proposed model are interpreted using the four maladaptive response patterns of repeated hits, lack of adaptation, prolonged response, and inadequate response. Empirical evidence for cortisol, inflammation, and oxidative stress responses are used to support the theoretical relationships. The proposed model provides a new way of thinking about physiologic dysregulation in preterm infants. The ability to describe and understand complex physiologic mechanisms involved in complications of prematurity is essential for research. Advancing the knowledge of complications of prematurity will advance clinical practice and research and lead to testing of interventions to reduce negative outcomes in preterm infants.

  9. 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

  10. Premature closure of the Trojan Nuclear Plant

    International Nuclear Information System (INIS)

    Kononetz, B.P.

    1995-01-01

    The premature closure of the Trojan Nuclear Plant is discussed in outline form. The topics discussed include: an overview of Trojan; events leading to shutdown decision; Trojan's lifetime O ampersand M performance; Trojan's Regulatory performance; historical Trojan regulatory versus economic performance; applicable Oregon law; least-cost planning process; 1992 least cost plan; 1993 LCP update; LCP limitations; comparative performance analysis; management assessments; Trojan O ampersand M analysis; steam generator issues; quantification of deficiencies; quantification of impact of steam generator degradation; 'net benefits' test; conclusions from net benefits analysis; total disallowances; and conclusions and ramifications

  11. Human milk: medicine for premature babies.

    Science.gov (United States)

    Hilton, Sioned

    2011-12-01

    Following years of research there have been some significant developments in the understanding and subsequent support being offered to Neonatal Intensive Care Unit (NICU) families. In addition, ground breaking advances in the treatment of premature infants, with specific interest in the role of human milk, are now available. New information was presented by leading international researcher, Professor Meier, at an international symposium earlier this year. This article seeks to share this insightful information and provide support to those working in or around the NICU.

  12. The economic burden of prematurity in Canada.

    Science.gov (United States)

    Johnston, Karissa M; Gooch, Katherine; Korol, Ellen; Vo, Pamela; Eyawo, Oghenowede; Bradt, Pamela; Levy, Adrian

    2014-04-05

    Preterm birth is a major risk factor for morbidity and mortality among infants worldwide, and imposes considerable burden on health, education and social services, as well as on families and caregivers. Morbidity and mortality resulting from preterm birth is highest among early (prematurity due to the larger number of late preterm infants relative to early and moderate preterm infants. The aim in this study was to characterize the burden of premature birth in Canada for early, moderate, and late premature infants, including resource utilization, direct medical costs, parental out-of-pocket costs, education costs, and mortality, using a validated and published decision model from the UK, and adapting it to a Canadian setting based on analysis of administrative, population-based data from Québec. Two-year survival was estimated at 56.0% for early preterm infants, 92.8% for moderate preterm infants, and 98.4% for late preterm infants. Per infant resource utilization consistently decreased with age. For moderately preterm infants, hospital days ranged from 1.6 at age two to 0.09 at age ten. Cost per infant over the first ten years of life was estimated to be $67,467 for early preterm infants, $52,796 for moderate preterm infants, and $10,010 for late preterm infants. Based on population sizes this corresponds to total national costs of $123.3 million for early preterm infants, $255.6 million for moderate preterm infants, $208.2 million for late preterm infants, and $587.1 million for all infants. Premature birth results in significant infant morbidity, mortality, healthcare utilization and costs in Canada. A comprehensive decision-model based on analysis of a Canadian population-based administrative data source suggested that the greatest national-level burden is associated with moderate preterm infants due to both a large cost per infant and population size while the highest individual-level burden is in early preterm infants and the largest total population size is

  13. Lactoferrin and prematurity: a promising milk protein?

    Science.gov (United States)

    Ochoa, Theresa J; Sizonenko, Stéphane V

    2017-02-01

    Lactoferrin (Lf) is the major whey protein in milk, with multiple beneficial health effects including direct antimicrobial activities, anti-inflammatory effects, and iron homeostasis. Oral Lf 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 can prevent preterm delivery by reducing proinflammatory factors and inhibiting premature cervix maturation. We review here the latest research on Lf in the field of neonatology.

  14. 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.

  15. RESEARCHES RELATED TO THE REDUCTION OF PREMATURITY THROUGH PREMATURE RUPTURE OF MEMBRANES IN 2017

    Directory of Open Access Journals (Sweden)

    Maria BOLOTA

    2017-06-01

    Full Text Available Data from literature, especially from the US, has provided data on prediction, prevention and treatment of premature membrane rupture (RPM. RPM is a significant cause of premature birth and can cause complications of a term task. Considerable research on RPM has led to a better understanding of the mechanism of spontaneous breakage of membranes, risk factors, and good results for newborns resulting from such obstetrical events. Spontaneous rupture of the membranes increases the risk of intrauterine infection and umbilical cord compression as well as the risk of premature detachment of placenta. Newborn babies resulting from RPM have an increased risk of morbidity compared to gestational age, and the risk of infection is increased compared with other premature babies due to ancillary causes. If RPM occurs in the second trimester, there is an additional risk of pulmonary hypoplasia and hip dysplasia. Pre-term conservative treatment prolongs latency to birth. Antibiotics reduce the risk of infection while corticosteroid treatment (dexamethasone reduces respiratory complications and interventricular haemorrhage without increasing the risk of infection. Birth is necessary or unavoidable in many cases by RPMs and because conservative treatment often results in no results; That is why studies are needed to identify all risk factors and the need to treat pregnant women at risk of RPM; 17-hydroxy-progesterone is a specific treatment for preventing recurrent membrane rupture. (http://www.ginecologultau.ro/ruptura-prematura-a-membranelor, 2013.

  16. 'Rush' type retinopathy of prematurity: report of three cases.

    OpenAIRE

    Nissenkorn, I; Kremer, I; Gilad, E; Cohen, S; Ben-Sira, I

    1987-01-01

    Three premature infants observed to develop severe stage III retinopathy of prematurity (ROP) at 3 to 5 weeks of age received immediate treatment by cryoablation and photocoagulation, with good results. The critical importance of the ophthalmic examination of premature babies from the age of 2 weeks, so as not to overlook such cases of 'rush' type ROP is stressed and the difficulty involved in treating such small neonates is discussed.

  17. 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 ...

  18. 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. 

  19. 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.

  20. 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.

  1. Treatment of threshold retinopathy of prematurity

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    Deshpande Dhanashree

    1998-01-01

    Full Text Available This report deals with our experience in the management of threshold retinopathy of prematurity (ROP. A total of 45 eyes of 23 infants were subjected to treatment of threshold ROP. 26.1% of these infants had a birth weight of >l,500 gm. The preferred modality of treatment was laser indirect photocoagulation, which was facilitated by scleral depression. Cryopexy was done in cases with nondilating pupils or medial haze and was always under general anaesthesia. Retreatment with either modality was needed in 42.2% eyes; in this the skip areas were covered. Total regression of diseases was achieved in 91.1% eyes with no sequelae. All the 4 eyes that progressed to stage 5 despite treatment had zone 1 disease. Major treatment-induced complications did not occur in this series. This study underscores the importance of routine screening of infants upto 2,000 gm birth weight for ROP and the excellent response that is achieved with laser photocoagulation in inducing regression of threshold ROP. Laser is the preferred method of treatment in view of the absence of treatment-related morbidity to the premature infants.

  2. The Neural Retina in Retinopathy of Prematurity

    Science.gov (United States)

    Hansen, Ronald M.; Moskowitz, Anne; Akula, James D.; Fulton, Anne B.

    2016-01-01

    Retinopathy of prematurity (ROP) is a neurovascular disease that affects prematurely born infants and is known to have significant long term effects on vision. We conducted the studies described herein not only to learn more about vision but also about the pathogenesis of ROP. The coincidence of ROP onset and rapid developmental elongation of the rod photoreceptor outer segments motivated us to consider the role of the rods in this disease. We used noninvasive electroretinographic (ERG), psychophysical, and retinal imaging procedures to study the function and structure of the neurosensory retina. Rod photoreceptor and post-receptor responses are significantly altered years after the preterm days during which ROP is an active disease. The alterations include persistent rod dysfunction, and evidence of compensatory remodeling of the post-receptor retina is found in ERG responses to full-field stimuli and in psychophysical thresholds that probe small retinal regions. In the central retina, both Mild and Severe ROP delay maturation of parafoveal scotopic thresholds and are associated with attenuation of cone mediated multifocal ERG responses, significant thickening of post-receptor retinal laminae, and dysmorphic cone photoreceptors. These results have implications for vision and control of eye growth and refractive development and suggest future research directions. These results also lead to a proposal for noninvasive management using light that may add to the currently invasive therapeutic armamentarium against ROP. PMID:27671171

  3. Autosomal dominant syndrome resembling Coffin-Siris syndrome.

    Science.gov (United States)

    Flynn, Maureen A; Milunsky, Jeff M

    2006-06-15

    Coffin-Siris syndrome is a multiple congenital anomaly/mental retardation syndrome with phenotypic variability [OMIM 135900]. The diagnosis is based solely on clinical findings, as there is currently no molecular, biochemical, or cytogenetic analysis available to confirm a diagnosis. Although typically described as an autosomal recessive disorder, autosomal dominant inheritance has also been infrequently reported. We describe a mother and her two daughters who all have features that resemble Coffin-Siris syndrome. However, this is not a completely convincing diagnosis given that hypertelorism is not a feature of Coffin-Siris syndrome and the family is relatively mildly affected. Yet, this family provides further evidence of an autosomal dominant mode of inheritance for a likely variant of Coffin-Siris syndrome (at least in some families). In addition, Sibling 1 had premature thelarche. She is the second reported individual within the spectrum of Coffin-Siris syndrome to have premature thelarche, indicating that it may be a rare clinical feature. Copyright 2006 Wiley-Liss, Inc.

  4. Computed tomography of the head of new born premature infants

    International Nuclear Information System (INIS)

    Ohno, Tsutomu; Mizobe, Naoki; Takehiro, Hideo

    1983-01-01

    Evaluation of the extracerebral space on CT resulted as follows: The existence of the etracerebral space in the parieto-occipital region (PO-ECS) was physiological findings characteristic to premature infants. Its incidence was higher and the width of the space was greater, in those of premature infants. Generally PO-ECS disappeared around 40 weeks of gestation, while it tended to remaine beyond 40 weeks in premature infants born after less than 30 weeks of pregnancy. The appearance and disappearance of the PO-ECS may present some approach to learning the development of the brain in premature infants. (Ueda, J.)

  5. Association between human breast milk and retinopathy of prematurity.

    Science.gov (United States)

    Fonseca, Luciana Teixeira; Senna, Denise C; Eckert, Gabriela Unchalo; Silveira, Rita de Cássia; Procianoy, Renato Soibelmann

    2018-04-01

    To evaluate the possible protective effect of breast milk against retinopathy of prematurity by comparing the amount of breast milk received by patients who developed retinopathy of prematurity and those who did not and to determine both the required minimum amount of breast milk and the time of life during which neonates need to receive breast milk for this effect to be significant. Cohort study of newborns with a birth weight of prematurity of any degree was 31% (100 of 323 patients) and that of severe retinopathy of prematurity was of 9% (29 of 323 patients). The median amounts of breast milk received daily by patients with and without retinopathy of prematurity were 4.9 mL/kg (interquartile range, 0.3-15.4) and 10.2 mL/kg (1.5-25.5), respectively. The amount of breast milk received in the first 6 weeks of life was inversely associated with the incidence of both retinopathy of prematurity of any degree and severe retinopathy of prematurity in the univariate analyses. However, the statistical significance was maintained only during the sixth week of life in a per-period multivariate analysis controlling for confounding factors. Small amounts of breast milk are inadequate to prevent retinopathy of prematurity in premature newborns at risk for the disease.

  6. 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

  7. Refractive status and optical components of premature babies with or without retinopathy of prematurity at 3-4 years old.

    Science.gov (United States)

    Ouyang, Li-Juan; Yin, Zheng-Qin; Ke, Ning; Chen, Xin-Ke; Liu, Qin; Fang, Jing; Chen, Lin; Chen, Xiu-Rong; Shi, Hui; Tang, Ling; Pi, Lian-Hong

    2015-01-01

    To investigate the refractive status and optical components of premature babies with or without retinopathy of prematurity (ROP) at 3-4 years old, and to explore the influence of prematurity and ROP on the refractive status and optical components. Premature babies receiving fundus examination were recruited into ROP group and non-ROP group, with age-matched full-term babies as controls. The incidence of myopia was the highest in ROP (3/59, 5.08%). The incidence of astigmatism was significantly different between ROP (37.29%, 22/59) and controls (17.86%, 15/84). The corneal refractive power in ROP and non-ROP was more potent compared with controls (PPremature babies with or without ROP are susceptible to myopia and astigmatism. ROP, prematurity and low birth-weight synergistically influence the development of refractive status and optical components, of which the prematurity and low birth-weight are more important.

  8. Drug treatment of metabolic syndrome.

    Science.gov (United States)

    Altabas, Velimir

    2013-08-01

    The metabolic syndrome is a constellation of risk factors for cardiovascular diseases including: abdominal obesity, a decreased ability to metabolize glucose (increased blood glucose levels and/or presence of insulin resistance), dyslipidemia, and hypertension. Patients who have developed this syndrome have been shown to be at an increased risk of developing cardiovascular disease and/or type 2 diabetes. Genetic factors and the environment both are important in the development of the metabolic syndrome, influencing all single components of this syndrome. The goals of therapy are to treat the underlying cause of the syndrome, to reduce morbidity, and to prevent complications, including premature death. Lifestyle modification is the preferred first-step treatment of the metabolic syndrome. There is no single effective drug treatment affecting all components of the syndrome equally known yet. However, each component of metabolic syndrome has independent goals to be achieved, so miscellaneous types of drugs are used in the treatment of this syndrome, including weight losing drugs, antidiabetics, antihypertensives, antilipemic and anticlothing drugs etc. This article provides a brief insight into contemporary drug treatment of components the metabolic syndrome.

  9. Case Report: Congenital Erythroleukemia in a Premature Infant with Dysmorphic Features.

    Science.gov (United States)

    Helin, Heidi; van der Walt, Jon; Holder, Muriel; George, Simi

    2016-01-01

    We present a case of pure erythroleukemia, diagnosed at autopsy, in a dysmorphic premature infant who died of multiorgan failure within 24 hours of birth. Dysmorphic features included facial and limb abnormalities with long philtrum, microagnathia, downturned mouth, short neck as well as abnormal and missing nails, missing distal phalanx from the second toe, and overlapping toes. Internal findings included gross hepatomegaly and patchy hemorrhages in the liver, splenomegaly, and cardiomegaly; and subdural, intracerebral, and intraventricular hemorrhages. Histology revealed infiltration of bone marrow, kidney, heart, liver, adrenal, lung, spleen, pancreas, thyroid, testis, thymus, and placenta by pure erythroleukemia. Only 6 cases of congenital erythroleukemia have been previously reported with autopsy findings similar to those of this case. The dysmorphic features, although not fitting any specific syndrome, make this case unique. Congenital erythroleukemia and possible syndromes suggested by the dysmorphic features are discussed.

  10. Circulating hematopoietic stem cell count is a valuable predictor of prematurity complications in preterm newborns

    Directory of Open Access Journals (Sweden)

    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

  11. 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

  12. 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.

  13. 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.

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

    African Journals Online (AJOL)

    Rabah M. Shawky

    2012-04-20

    Apr 20, 2012 ... syndrome) in an Egyptian child with premature loss of teeth, and cafe´ au ... with small ear lobule, eyebrows were sparse with long eye- lashes ... and dry. Figure 1. Demonstrates facial features with large mouth and tongue.

  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. Prematurity Stereotype: Effects of Labeling on Adults' Perceptions of Infants.

    Science.gov (United States)

    Stern, Marilyn; Hildebrandt, Katherine A.

    1984-01-01

    Two studies were conducted in which college students and mothers were asked to rate unfamiliar infants shown on videotapes. Infants were described as either full-term or premature and as either male or female. Infants labeled premature were rated more negatively than those labeled full-term, but infants labeled male and female were rated…

  17. Histological Chorioamnionitis: Effects on Premature Delivery and Neonatal Prognosis

    Directory of Open Access Journals (Sweden)

    Gulin Erdemir

    2013-08-01

    Conclusion: Chorioamnionitis not only causes premature deliveries, but is also associated with neonatal complications and increased mortality. Clinical findings and infectious markers in mother or infant do not predict the diagnosis of histological chorioamnionitis. Therefore, placental histopathology may have a role in predicting neonatal outcome in premature deliveries, especially those below 30 weeks.

  18. 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....

  19. Impact of Prematurity on Language Skills at School Age

    Science.gov (United States)

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

    2014-01-01

    Purpose: The existing literature on language outcomes in children born prematurely focuses almost exclusively on standardized test scores rather than discourse-level abilities. The authors of this study looked longitudinally at school-age language outcomes and potential moderating variables for a group of twins born prematurely versus a control…

  20. 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

  1. 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.

  2. Premature ejaculation: A clinical review for the general physician.

    Science.gov (United States)

    Chung, Eric; Gilbert, Brent; Perera, Marlon; Roberts, Matthew J

    2015-10-01

    Premature ejaculation is one of the most common sexual dysfunctions in men. Recent epidemiological studies suggest its prevalence in Australia may range from 21-31% This article will discuss the current definition of premature ejaculation from a urological perspective. It will provide an understanding of the pathogenesis of premature ejaculation, as well as assessment and management options. Premature ejaculation can have a significant adverse effect on the quality of life for the patient and his sexual partners. It can potentially lead to psychological distress, diminished self- esteem, anxiety, erectile dysfunction, reduced libido and poor interpersonal relationships. Most men feel reluctant to discuss premature ejaculation with their general practitioner despite its psychological, emotional and relational effects. Effective, evidence-based treatment options are available and physicians should feel confident when exploring ways to improve the quality of life for men with sexual dysfunction.

  3. Adequacy of published screening criteria for retinopathy of prematurity.

    Science.gov (United States)

    Taranath, Deepa A; Oh, Dickson D-S; Keane, Miriam C; Fabel, Helen; Marshall, Peter

    2016-03-01

    Criteria for screening preterm infants for retinopathy of prematurity vary around the world. We aimed to analyse the efficacy of alternative screening criteria. We collected retrospective data at a tertiary level neonatal nursery. Our participants were 1007 babies, born between 1997 and 2011, at prematurity. We determined whether disease would be detected using an alternative Australian screening model (gestational age prematurity is our main outcome. Using several of the alternative criteria, two neonates with clinically significant retinopathy of prematurity, one of whom required laser treatment to preserve sight, would not have been screened, and their disease may have gone undetected. Use of prematurity may risk clinically significant cases being missed and others may screen babies unnecessarily. Alternative criteria should be considered and '<30 weeks gestational age and/or <1500 g birth weight' appears a viable option. © 2015 Royal Australian and New Zealand College of Ophthalmologists.

  4. Long-term impact of prematurity on postnatal neurohormonal regulation

    Directory of Open Access Journals (Sweden)

    M. I. Ziborova

    2016-01-01

    Full Text Available This article considers the psychophysiological and neuroendocrine differences characteristic of premature children, which are as a result of long-term perinatal consequences. Particular emphasis is laid on the effects of the hypothalamic-pituitary-adrenocortical stress system, the performance of which is reprogramed during complicated pregnancy, labor, and postnatal period under pain stress due to medical manipulations. Being extremely sensitive to all these exposures, the brain of a premature infant develops during activation of the stress system and takes on a few distinctive properties in addition to independent neuroanatomical distinctions due to premature birth. The altered neurohormonal patterns revealed in very prematurely born children and adolescents involve the regulation of mental processes, behavior, metabolism, and circadian rhythms (sleep-wake regulation, which differ from those in their maturely born peers. These cases allow learning and behavior problems and lower cognitive estimates to be considered in normally developing children born extremely prematurely who have also hormonal dysregulation.

  5. Beals Syndrome

    Science.gov (United States)

    ... the syndrome. How does Beals syndrome compare with Marfan syndrome? People with Beals syndrome have many of the ... bone) and aortic enlargement problems as people with Marfan syndrome, and treatments for these problems are the same. ...

  6. 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 prematurity, because prematurity is an outcome of preeclampsia.

  7. Premature Calcifications of Costal Cartilages: A New Perspective Premature Calcifications of Costal Cartilages: A New Perspective

    International Nuclear Information System (INIS)

    Rhomberg, W.; Schuster, A.

    2014-01-01

    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

  8. CROUZON SYNDROME: A CASE REPORT

    Directory of Open Access Journals (Sweden)

    Debdas

    2015-07-01

    Full Text Available Crouzon’s Syndrome is a rare autosomal dominant disorder. Normally, the sutures in the human skull fuse after the complete growth of the brain. But, if any of these sutures closes early then it may interfere with the growth of the brain. Premature sutural fusion most commonly involves sagittal suture followed by coronal suture. We report a case of 6 - year - old male child presented with characteristic features of Crouzon’s syndrome. Diagnosis was made on the basis of clinical and radiological findings.

  9. Sildenafil and retinopathy of prematurity risk in very low birth weight infants

    NARCIS (Netherlands)

    S. Samiee-Zafarghandy; J.N. van den Anker (John); M. Laughon (Matthew); R.H. Clark; P.B. Smith; C.P. Hornik

    2016-01-01

    textabstractObjective: To examine the effect of sildenafil therapy on development of severe retinopathy of prematurity (ROP) requiring surgical intervention in premature infants. Study Design: We identified premature infants who were discharged from Pediatrix Medical Group neonatal intensive care

  10. 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.

  11. HEARING FUNCTION IN PREMATURE CHILDREN WITH INTRAUTERINE GROWTH RESTRICTION

    Directory of Open Access Journals (Sweden)

    I. V. Rakhmanova

    2012-01-01

    Full Text Available Initial audiological test was performed in 136 premature children with various gestational age born from single fetation. The children were divided into 2 groups: prematures with intrauterine growth restriction (IUGR and prematures with normal weight for their gestational age (normotrophy. The study showed that the rate of passing the initial audiological test using the method of DPOAE was lower in both ears in children with IUGR, than in children with normotrophy. The correlation between the results of initial audiological test and birth weight was found: the lower was weight, the higher was risk of absence of acoustic response registration on initial examination.

  12. Thigh circumference and risk of heart disease and premature death

    DEFF Research Database (Denmark)

    Heitmann, Berit L; Frederiksen, Peder

    2009-01-01

    of follow-up for total death. RESULTS: A small thigh circumference was associated with an increased risk of cardiovascular and coronary heart diseases and total mortality in both men and women. A threshold effect for thigh circumference was evident, with greatly increased risk of premature death below...... circumference seems to be associated with an increased risk of developing heart disease or premature death. The adverse effects of small thighs might be related to too little muscle mass in the region. The measure of thigh circumference might be a relevant anthropometric measure to help general practitioners...... in early identification of individuals at an increased risk of premature morbidity and mortality....

  13. Symbolic transfer entropy-based premature signal analysis

    International Nuclear Information System (INIS)

    Wang Jun; Yu Zheng-Feng

    2012-01-01

    In this paper, we use symbolic transfer entropy to study the coupling strength between premature signals. Numerical experiments show that three types of signal couplings are in the same direction. Among them, normal signal coupling is the strongest, followed by that of premature ventricular contractions, and that of atrial premature beats is the weakest. The T test shows that the entropies of the three signals are distinct. Symbolic transfer entropy requires less data, can distinguish the three types of signals and has very good computational efficiency. (interdisciplinary physics and related areas of science and technology)

  14. [Birth weight distribution among premature infants and related social factors].

    Science.gov (United States)

    Guo, Li-jun; Ye, Rong-wei; Wang, Gui-xia; Wang, Juan; Li, Zhi-wen; Ren, Ai-guo

    2009-12-01

    To understand the distribution of birth weight among premature infants and the associated social factors. The study population consisted of 97 537 women who delivered singleton live birth of 20 to 41 gestational weeks in 4 counties/cities, Jiangsu and Zhejiang provinces, China from 1995 to 2000. Chi-square test was employed to test the difference of proportions between respective groups. One- way ANOVA was used to test the differences regarding the mean of gestational weeks at the first prenatal visit and the mean of prenatal visits between the two groups. Multivariate logistic regression was conducted to examine the factors associated with premature birth. Women aged 35 years had higher (8.8%) premature incidence than those aged less than 24 years (5.6%), 25 - 29 years (4.6%), or 30 - 34 years (4.5%, P premature incidence than those with height taller than 150 cm (5.0%). Women whose BMI were at least 28 and 24 - 28 had higher (5.5%, 5.5%) premature incidences than those whose BMI were 18.5 - 24.0 (5.0%), premature birth was 6.0% among women without previous pregnancy, higher than that among those women with 4 times of pregnancies (5.7%), 2 times of pregnancies (4.3%), and 3 times of pregnancies (4.0%). Parous women with at least two deliveries had higher (9.3%) premature incidence than the primiparous women (5.2%) and whose women with only one delivery (4.5%, P premature incidence than those who did not receive the service (6.1%). The mean times of prenatal visits among women with premature births was 8.53, less than that of those with full term delivery (10.97). Women with less than four times of prenatal visit had higher (18.9%) premature incidence than those with at least five prenatal visits (4.9%). Multivariate logistic regression showed that premature delivery risk was associated with age, height, BMI, gravidity, parity, early prenatal care, the mean of gestational weeks at first prenatal visit and the mean number of prenatal visits etc. Premature delivery

  15. Preventing the premature death of relationship marketing.

    Science.gov (United States)

    Fournier, S; Dobscha, S; Mick, D G

    1998-01-01

    Relationship marketing is in vogue. And why not? The new, increasingly efficient ways that companies have of understanding and responding to customers' needs and preferences seemingly allow them to build more meaningful connections with consumers than ever before. These connections promise to benefit the bottom line by reducing costs and increasing revenue. Unfortunately, a close look suggests that the relationships between companies and customers are troubled ones, at best. Companies may delight in learning more about their customers and in being able to provide features and services to please every possible palate. But customers delight in neither. In fact, customer satisfaction rates in the United States are at an all-time low, while complaints, boycotts, and other expressions of consumer discontent are on the rise. This mounting wave of unhappiness has yet to reach the bottom line. Sooner or later, however, corporate performance will suffer unless relationship marketing becomes what it is supposed to be--the epitome of customer orientation. Ironically, the very things that marketers are doing to build relationships with customers are often the things that are destroying those relationships. Relationship marketing is powerful in theory but troubled in practice. To prevent its premature death, marketers need to take the time to figure out how and why they are undermining their own best efforts, as well as how they can get things back on track.

  16. Control practices contribute to premature transformer failures

    Energy Technology Data Exchange (ETDEWEB)

    Jauch, E.T. [Beckwith Electric Company Inc., Largo, FL (United States)

    2007-07-01

    Studies of premature load tap changer (LTC) transformer failures on utility systems have shown the tap changers to be the primary contributing factor. Some of the LTC factors that lead to transformer failures include oil quality and particulate contamination; LTC contact temperature rise; contact coking; carbon film build-up; short circuit mechanical forces; and contact wear and arcing. These factors create increasing contact resistance thereby increasing voltage drop, localized heating, contact pitting, oil contamination and general deterioration. This paper discussed utility tapchanger control practices and methods of determining control functions to be activated as well as the determination of optimum settings contributing to excessive or untimely tap change operations. The transformer applications that were considered included transmission tie transformers as well as transmission distribution interface transformers. The paper discussed the circulating current paralleling method and the circulating reactive current or var sharing paralleling method. Several common practices were discussed, including basic voltage control ranges and setting effects; timing options available; LDC misapplications; first house protection methods; and various paralleling techniques. It was concluded that although there are several other methods of paralleling power transformers, many are not applicable under certain system configurations. In these applications, improper use of a paralleling method or improper setting and commissioning may cause hunting for appropriate tap positions and dramatically increase the number of tap changes, causing wear and degradation of the tap changer contacts. 3 refs., 5 figs.

  17. 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.

  18. Retinopathy of prematurity: Past, present and future

    Science.gov (United States)

    Shah, Parag K; Prabhu, Vishma; Karandikar, Smita S; Ranjan, Ratnesh; Narendran, Venkatapathy; Kalpana, Narendran

    2016-01-01

    Retinopathy of prematurity (ROP) is a vasoproliferative disorder of the retina occurring principally in new born preterm infants. It is an avoidable cause of childhood blindness. With the increase in the survival of preterm babies, ROP has become the leading cause of preventable childhood blindness throughout the world. A simple screening test done within a few weeks after birth by an ophthalmologist can avoid this preventable blindness. Although screening guidelines and protocols are strictly followed in the developed nations, it lacks in developing economies like India and China, which have the highest number of preterm deliveries in the world. The burden of this blindness in these countries is set to increase tremendously in the future, if corrective steps are not taken immediately. ROP first emerged in 1940s and 1950s, when it was called retrolental fibroplasia. Several epidemics of this disease were and are still occurring in different regions of the world and since then a lot of research has been done on this disease. However, till date very few comprehensive review articles covering all the aspects of ROP are published. This review highlights the past, present and future strategies in managing this disease. It would help the pediatricians to update their current knowledge on ROP. PMID:26862500

  19. Apnea of prematurity--perfect storm.

    Science.gov (United States)

    Di Fiore, Juliann M; Martin, Richard J; Gauda, Estelle B

    2013-11-01

    With increased survival of preterm infants as young as 23 weeks gestation, maintaining adequate respiration and corresponding oxygenation represents a clinical challenge in this unique patient cohort. Respiratory instability characterized by apnea and periodic breathing occurs in premature infants because of immature development of the respiratory network. While short respiratory pauses and apnea may be of minimal consequence if oxygenation is maintained, they can be problematic if accompanied by chronic intermittent hypoxemia. Underdevelopment of the lung and the resultant lung injury that occurs in this population concurrent with respiratory instability creates the perfect storm leading to frequent episodes of profound and recurrent hypoxemia. Chronic intermittent hypoxemia contributes to the immediate and long term co-morbidities that occur in this population. In this review we discuss the pathophysiology leading to the perfect storm, diagnostic assessment of breathing instability in this unique population and therapeutic interventions that aim to stabilize breathing without contributing to tissue injury. Copyright © 2013. Published by Elsevier B.V.

  20. 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.

  1. METABOLIC SYNDROME IN PATIENTS WITH PSYCHOTIC DISORDERS: diagnostic issues, comorbidity and side effects of antipsychotics

    OpenAIRE

    Kozumplik, Oliver; Uzun, Suzana; Jakovljević, Miro

    2010-01-01

    Background: Metabolic syndrome and other cardiovascular risk factors are highly prevalent in people with schizophrenia. Metabolic syndrome can contribute to significant morbidity and premature mortality and should be accounted for in the treatment of mental disorders. Along with results of numerous investigations regarding metabolic syndrome, different issues have occurred. The aim of this article is to review literature regarding diagnostic and treatment of metabolic syndrome and po...

  2. Anesthetic implications of emergent Cesarean section in a parturient with Noonan syndrome and bacterial endocarditis.

    Science.gov (United States)

    Chase, Charles J; Holak, Elena J; Pagel, Paul S

    2013-08-01

    Noonan syndrome is a relatively common genetically transmitted disorder characterized by facial, cardiac, and musculoskeletal abnormalities. The management of a 27 year old woman with Noonan syndrome at 23 weeks' gestation, presenting with premature labor, who required an emergent Cesarean section for placental abruption, is discussed. In addition to Noonan syndrome, this patient had bacterial endocarditis involving the mitral and aortic valves. The anesthetic implications of Noonan syndrome and endocarditis during pregnancy are presented. © 2013 Elsevier Inc. All rights reserved.

  3. Cushing syndrome

    Science.gov (United States)

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

  4. LEOPARD syndrome

    Science.gov (United States)

    Multiple lentigines syndrome; Noonan syndrome with multiple lentigines ... Genetics Home Reference -- ghr.nlm.nih.gov/condition/noonan-syndrome-with-multiple-lentigines National Organization for Rare Disorders -- ...

  5. Premature cardiovascular disease in young women with heterozygous familial hypercholesterolemia

    NARCIS (Netherlands)

    van der Graaf, Anouk; Hutten, Barbara A.; Kastelein, John J. P.; Vissers, Maud N.

    2006-01-01

    Heterozygous familial hypercholesterolemia is associated with elevated low-density lipoprotein cholesterol levels and the development of premature cardiovascular disease. Despite this general statement, data regarding the incidence of cardiovascular disease in young women with familial

  6. 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.

  7. Prolactin, cortisol and thyroxine levels and the premature infant

    African Journals Online (AJOL)

    1983-04-16

    Apr 16, 1983 ... and the premature infant ... values in cord and maternal plasma to fetal age and weight and to the incidence of hyaline membrane disease (HMD) was .... thyroxine and prolactin values with an increase in weight has also.

  8. [Family participation in premature care in neonatal ICU].

    Science.gov (United States)

    Gaíva, Maria Aparecida Munhoz; Scochi, Carmen Gracinda Silvan

    2005-01-01

    This study aimed at analyzing the family participation in the premature assistance in a university hospital neonatal ICU. Data were collected from the participant observation. Results showed that despite of the mother's presence in the daily life of their premature children placed in a hospital, family isn't inserted in the work process and mothers are the only ones who take part of the cares. This participation basically happens in the execution of maternity care, especially at the medium risk unity, the mother and premature family are less welcomed and there isn't any partnership between the care team and the family, there aren't team interventions in order to turn premature family in autonomous subject to promote health and life quality to baby's life.

  9. Probiotics in premature infants: focus on necrotising enterocolitis

    African Journals Online (AJOL)

    Necrotising enterocolitis (NEC) is predominantly seen in premature infants and is the leading .... Because neonates are often intolerant to large enteral volumes, the ... of necrotizing enterocolitis in very low birth weight infant. Pediatrics. 2005 ...

  10. DENGUE DURING PREGNANCY: ASSOCIATION WITH LOW BIRTH WEIGHT AND PREMATURITY

    Directory of Open Access Journals (Sweden)

    Christiane Fernandes RIBEIRO

    2016-01-01

    Full Text Available The aim of this study was to evaluate the effects of dengue virus infection during pregnancy and its correlation with low birth weight, prematurity, and asphyxia. A non-concurrent cohort study reveals the association of dengue during pregnancy with prematurity and low birth weight, when birth occurred during the maternal-fetal viremia period (p = 0.016 and p < 0.0001, respectively.

  11. The Severity of Retinopathy in the Extremely Premature Infants

    OpenAIRE

    Trivli, Alexandra; Polychronaki, Maria; Matalliotaki, Charoula; Papadimas, Michail; Patelarou, Athina E.; Dermitzaki, Niki; Matalliotakis, Michail

    2017-01-01

    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 f...

  12. Study on biological dosimetry of premature chromosome condensation technique

    International Nuclear Information System (INIS)

    Jiang Bo

    2005-01-01

    The premature chromosome condensation technique has been applied for biological dosimetry purpose. Premature chromo-some condensation was induced by incubating unstimulated human peripheral blood lymphocytes in the presence of okadaic acid or calyculin A (a phosphatase inhibitor) which eliminated the need for fusion with mitotic cells. It is now possible to examine the early damage induced by radiation. It is simple, exact when it combines with fluorecence in situ hybridization. (authors)

  13. Efficacy of Intravitreal Bevacizumab for Stage 3+ Retinopathy of Prematurity

    Science.gov (United States)

    Mintz-Hittner, Helen A.; Kennedy, Kathleen A.; Chuang, Alice Z.

    2011-01-01

    BACKGROUND Retinopathy of prematurity is a leading cause of childhood blindness worldwide. Peripheral retinal ablation with conventional (confluent) laser therapy is destructive, causes complications, and does not prevent all vision loss, especially in cases of retinopathy of prematurity affecting zone I of the eye. Case series in which patients were treated with vascular endothelial growth factor inhibitors suggest that these agents may be useful in treating retinopathy of prematurity. METHODS We conducted a prospective, controlled, randomized, stratified, multicenter trial to assess intravitreal bevacizumab monotherapy for zone I or zone II posterior stage 3+ (i.e., stage 3 with plus disease) retinopathy of prematurity. Infants were randomly assigned to receive intravitreal bevacizumab (0.625 mg in 0.025 ml of solution) or conventional laser therapy, bilaterally. The primary ocular outcome was recurrence of retinopathy of prematurity in one or both eyes requiring retreatment before 54 weeks’ postmenstrual age. RESULTS We enrolled 150 infants (total sample of 300 eyes); 143 infants survived to 54 weeks’ postmenstrual age, and the 7 infants who died were not included in the primary-outcome analyses. Retinopathy of prematurity recurred in 4 infants in the bevacizumab group (6 of 140 eyes [4%]) and 19 infants in the laser-therapy group (32 of 146 eyes [22%], P = 0.002). A significant treatment effect was found for zone I retinopathy of prematurity (P = 0.003) but not for zone II disease (P = 0.27). CONCLUSIONS Intravitreal bevacizumab monotherapy, as compared with conventional laser therapy, in infants with stage 3+ retinopathy of prematurity showed a significant benefit for zone I but not zone II disease. Development of peripheral retinal vessels continued after treatment with intravitreal bevacizumab, but conventional laser therapy led to permanent destruction of the peripheral retina. This trial was too small to assess safety. PMID:21323540

  14. Low birthweight and prematurity in relation to paternal factors

    DEFF Research Database (Denmark)

    Basso, Olga; Olsen, Jørn; Christensen, Kaare

    1999-01-01

    BACKGROUND: The importance of paternal determinants in the occurrence of low birthweight and prematurity is not well known. We investigated these outcomes in siblings and paternal half siblings as a function of changes in putative external determinants between two births in fathers who had...... experienced the birth of a premature and/or low birthweight (PTB/LBW) infant. METHODS: All fathers who, between 1980 and 1992, had an infant born before 37 completed weeks' gestation or weighing

  15. Damage of fuel assembly premature changing in a power reactor

    International Nuclear Information System (INIS)

    Rudik, A.P.

    1987-01-01

    Material balance, including energy recovery and nuclear fuel flow rate, under conditions of premature FA extraction from power reactor is considered. It is shown that in cases when before and after FA extraction reactor operates not under optimal conditions damage of FA premature changing is proportional to the first degree of fuel incomplete burning. If normal operating conditions of reactor or its operation after FA changing is optimal, the damage is proportional to the square of fuel incomplete burning

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

    OpenAIRE

    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 the use of a national transfusion guideline, we observed significant differences concerning the total amount of administered transfusions. A liberal transfusion strategy and a higher transfusion volu...

  17. 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.

  18. Acute Associations Between Outdoor Temperature and Premature Rupture of Membranes.

    Science.gov (United States)

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

    2018-03-01

    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 2 control periods, before and after the case period. Conditional logistic regression models calculated the odds ratio (OR) and 95% confidence intervals (CIs) 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. See video abstract at, http://links.lww.com/EDE/B312.

  19. MICROBIOLOGICAL STUDY ON ENDOCERVIX IN PRETERM PREMATURE RUPTURE OF MEMBRANE

    OpenAIRE

    Elizebeth V. Issac; Sareena Gilvaz; Neetha B. George

    2017-01-01

    BACKGROUND Preterm premature rupture of membrane (PPROM) is defined as premature rupture of membrane before 37 completed weeks. It is associated with 40% preterm deliveries and results in significant perinatal mortality and morbidity. Present study is an attempt to find the association between infection and PPROM. MATERIALS AND METHODS 100 pregnant women between 29 weeks and 34 weeks of gestation who were admitted in our labour room during a period from November 2012 to Nove...

  20. [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.

  1. 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.

  2. 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

  3. 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

  4. 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.

  5. [Macronutrients and energy in milk from mothers of premature infants].

    Science.gov (United States)

    He, Bi-Zi; Sun, Xiu-Jing; Quan, Mei-Ying; Wang, Dan-Hua

    2014-07-01

    To study the dynamic changes in macronutrients and energy in human milk from mothers of premature infants. A total of 339 human milk samples were collected from 170 women who delivered preterm or full-term infants in the Department of Obstetrics and Gynecology, Peking Union Medical College Hospital between November 2012 and January 2014. Macronutrients (proteins, fats and carbohydrates and energy were measured using a MIRIS human milk analyzer and compared between groups. In milk samples from premature infants' mothers, the protein levels were the highest in colostrum (2.22±0.49 g/dL), less in transitional milk (1.83±0.39 g/dL), and the least in mature milk (1.40±0.28 g/dL) (Pmacronutrients and energy in milk from mothers of premature infants vary significantly between colostrum, transitional milk, and mature milk. Protein levels are significantly higher in colostrum from premature infants' mothers than in colostrum from term infants' mothers, but the significant difference is not seen for mature milk. Macronutrient and energy levels show significant differences between milk samples from mothers of premature infants with different gestational ages, so as to meet different needs of premature infants.

  6. 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.

  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. 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), ...

  9. 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.

  10. 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.

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

    Directory of Open Access Journals (Sweden)

    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.

  12. Clinically significant cardiopulmonary events and the effect of definition standardization on apnea of prematurity management.

    Science.gov (United States)

    Powell, M B F; Ahlers-Schmidt, C R; Engel, M; Bloom, B T

    2017-01-01

    To define the impact of care standardization on caffeine and cardiorespiratory monitoring at neonatal intensive care unit (NICU) discharge. Electronic records were abstracted for infants aged 24-36 weeks gestation with birth weights appropriate for gestational age. Infants who died, transferred prior to discharge, had major pulmonary anomalies, required a home monitor for mechanical ventilation or had a family history of sudden infant death syndrome were excluded. Data and records were used to indicate when the new definition of clinically significant cardiopulmonary events (CSCPEs) and concurrent education was implemented. Preimplementation and postimplementation cohorts were compared. Incidence fell from 74% diagnosed with apnea of prematurity at baseline to 49% diagnosed with CSCPE postimplementation (Pdefinitions and treatments reduced the use of caffeine and cardiorespiratory monitors upon NICU dismissal.

  13. Amnioinfusion for preterm premature rupture of membranes.

    Science.gov (United States)

    Hofmeyr, G Justus; Essilfie-Appiah, George; Lawrie, Theresa A

    2011-12-07

    Preterm premature rupture of membranes (PPROM) is a leading cause of perinatal morbidity and mortality. Amnioinfusion aims to restore amniotic fluid volume by infusing a solution into the uterine cavity. The objective of this review was to assess the effects of amnioinfusion for PPROM on perinatal and maternal morbidity and mortality. We searched the Cochrane Pregnancy and Childbirth Group's Trials Register (30 September 2011). Randomised trials of amnioinfusion compared to no amnioinfusion in women with PPROM. Three review authors independently assessed trials for inclusion. Two review authors independently assessed trial quality and extracted data. Data were checked for accuracy. We included five trials but we only analysed data from four studies (with a total of 241 participants). One trial did not contribute any data to the review.Transcervical amnioinfusion improved fetal umbilical artery pH at delivery (mean difference 0.11; 95% confidence interval (CI) 0.08 to 0.14; one trial, 61 participants) and reduced persistent variable decelerations during labour (risk ratio (RR) 0.52; 95% CI 0.30 to 0.91; one trial, 86 participants).Transabdominal amnioinfusion was associated with a reduction in neonatal death (RR 0.30; 95% CI 0.14 to 0.66; two trials, 94 participants), neonatal sepsis (RR 0.26, 95% CI 0.11 to 0.61; one trial, 60 participants), pulmonary hypoplasia (RR 0.22; 95% CI 0.06 to 0.88; one trial, 34 participants) and puerperal sepsis (RR 0.20; 95% CI 0.05 to 0.84; one trial, 60 participants). Women in the amnioinfusion group were also less likely to deliver within seven days of membrane rupture (RR 0.18; 95% CI 0.05 to 0.70; one trial, 34 participants). These results should be treated with circumspection as the positive findings were mainly due to one trial with unclear allocation concealment. These results are encouraging but are limited by the sparse data and unclear methodological robustness, therefore further evidence is required before amnioinfusion for

  14. 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 ......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...

  15. Neighborhood Environmental Health and Premature Death From Cardiovascular Disease

    Science.gov (United States)

    Xu, Junjun; Rollins, Latrice; Baltrus, Peter; O’Connell, Laura Kathryn; Cooper, Dexter L.; Hopkins, Jammie; Botchwey, Nisha D.; Akintobi, Tabia Henry

    2018-01-01

    Introduction Cardiovascular disease (CVD) is the leading cause of death in the United States and disproportionately affects racial/ethnic minority groups. Healthy neighborhood conditions are associated with increased uptake of health behaviors that reduce CVD risk, but minority neighborhoods often have poor food access and poor walkability. This study tested the community-driven hypothesis that poor access to food at the neighborhood level and poor neighborhood walkability are associated with racial disparities in premature deaths from CVD. Methods We examined the relationship between neighborhood-level food access and walkability on premature CVD mortality rates at the census tract level for the city of Atlanta using multivariable logistic regression models. We produced maps to illustrate premature CVD mortality, food access, and walkability by census tract for the city. Results We found significant racial differences in premature CVD mortality rates and geographic disparities in food access and walkability among census tracts in Atlanta. Improved food access and walkability were associated with reduced overall premature CVD mortality in unadjusted models, but this association did not persist in models adjusted for census tract population composition and poverty. Census tracts with high concentrations of minority populations had higher levels of poor food access, poor walkability, and premature CVD mortality. Conclusion This study highlights disparities in premature CVD mortality and neighborhood food access and walkability at the census tract level in the city of Atlanta. Improving food access may have differential effects for subpopulations living in the same area. These results can be used to calibrate neighborhood-level interventions, and they highlight the need to examine race-specific health outcomes. PMID:29389312

  16. Neighborhood Environmental Health and Premature Death From Cardiovascular Disease.

    Science.gov (United States)

    Gaglioti, Anne H; Xu, Junjun; Rollins, Latrice; Baltrus, Peter; O'Connell, Laura Kathryn; Cooper, Dexter L; Hopkins, Jammie; Botchwey, Nisha D; Akintobi, Tabia Henry

    2018-02-01

    Cardiovascular disease (CVD) is the leading cause of death in the United States and disproportionately affects racial/ethnic minority groups. Healthy neighborhood conditions are associated with increased uptake of health behaviors that reduce CVD risk, but minority neighborhoods often have poor food access and poor walkability. This study tested the community-driven hypothesis that poor access to food at the neighborhood level and poor neighborhood walkability are associated with racial disparities in premature deaths from CVD. We examined the relationship between neighborhood-level food access and walkability on premature CVD mortality rates at the census tract level for the city of Atlanta using multivariable logistic regression models. We produced maps to illustrate premature CVD mortality, food access, and walkability by census tract for the city. We found significant racial differences in premature CVD mortality rates and geographic disparities in food access and walkability among census tracts in Atlanta. Improved food access and walkability were associated with reduced overall premature CVD mortality in unadjusted models, but this association did not persist in models adjusted for census tract population composition and poverty. Census tracts with high concentrations of minority populations had higher levels of poor food access, poor walkability, and premature CVD mortality. This study highlights disparities in premature CVD mortality and neighborhood food access and walkability at the census tract level in the city of Atlanta. Improving food access may have differential effects for subpopulations living in the same area. These results can be used to calibrate neighborhood-level interventions, and they highlight the need to examine race-specific health outcomes.

  17. 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.

  18. [Evaluation of maternal parameters as risk factors for premature birth (individual and combined effects)].

    Science.gov (United States)

    Voigt, M; Briese, V; Pietzner, V; Kirchengast, S; Schneider, K T M; Straube, S; Jorch, G

    2009-08-01

    We aimed to examine the individual and combined effects of nine maternal parameters (biological, medical, and social) on rates of prematurity. Our objective was to provide obstetricians with a way of screening women for likely premature deliveries. We conducted a retrospective analysis on the data of about 2.3 million pregnancies taken from the German perinatal statistics of 1995-2000. Rates of prematurity were calculated with single and multi-dimensional analyses on the basis of nine maternal parameters (age, weight, height, number of previous live births, stillbirths, miscarriages and terminations of pregnancy, smoking status, previous premature delivery). The following combinations of parameters were investigated in particular: rates of prematurity according to the number of previous stillbirths, miscarriages, and terminations; rates of prematurity according to the number of previous live births and maternal age, height and weight. We also included daily cigarette consumption and previous premature deliveries in our analyses. The rate of prematurity (premature deliveries (32-36 weeks) was 5.9%, and the rate of very early premature deliveries (prematurity (prematurity of 27.5% in women with the following combination of parameters: > or =1 stillbirth, > or =2 terminations of pregnancy and > or =2 miscarriages. A rather high risk of premature delivery (>11%) was also found for elderly (> or =40 years) grand multiparous women as well as small (premature deliveries (>10%). The risk table that we present here may assist in predicting premature delivery. Georg Thieme Verlag KG Stuttgart.New York.

  19. Multimodality cardiac imaging in Turner syndrome.

    Science.gov (United States)

    Mortensen, Kristian H; Gopalan, Deepa; Nørgaard, Bjarne L; Andersen, Niels H; Gravholt, Claus H

    2016-06-01

    Congenital and acquired cardiovascular diseases contribute significantly to the threefold elevated risk of premature death in Turner syndrome. A multitude of cardiovascular anomalies and disorders, many of which deleteriously impact morbidity and mortality, is frequently left undetected and untreated because of poor adherence to screening programmes and complex clinical presentations. Imaging is essential for timely and effective primary and secondary disease prophylaxis that may alleviate the severe impact of cardiovascular disease in Turner syndrome. This review illustrates how cardiovascular disease in Turner syndrome manifests in a complex manner that ranges in severity from incidental findings to potentially fatal anomalies. Recommendations regarding the use of imaging for screening and surveillance of cardiovascular disease in Turner syndrome are made, emphasising the key role of non-invasive and invasive cardiovascular imaging to the management of all patients with Turner syndrome.

  20. Perinatal features of the RASopathies: Noonan syndrome, cardiofaciocutaneous syndrome and Costello syndrome.

    Science.gov (United States)

    Myers, Angela; Bernstein, Jonathan A; Brennan, Marie-Luise; Curry, Cynthia; Esplin, Edward D; Fisher, Jamie; Homeyer, Margaret; Manning, Melanie A; Muller, Eric A; Niemi, Anna-Kaisa; Seaver, Laurie H; Hintz, Susan R; Hudgins, Louanne

    2014-11-01

    The RASopathies are a family of developmental disorders caused by heritable defects of the RAS/MAPK signaling pathway. While the postnatal presentation of this group of disorders is well known, the prenatal and neonatal findings are less widely recognized. We report on the perinatal presentation of 10 patients with Noonan syndrome (NS), nine with Cardiofaciocutaneous syndrome (CFCS) and three with Costello syndrome (CS), in conjunction with the results of a comprehensive literature review. The majority of perinatal findings in NS, CS, and CFCS are shared: polyhydramnios; prematurity; lymphatic dysplasia; macrosomia; relative macrocephaly; respiratory distress; hypotonia, as well as cardiac and renal anomalies. In contrast, fetal arrhythmia and neonatal hypoglycemia are relatively specific to CS. NS, CS, and CFCS should all be considered as a possible diagnosis in pregnancies with a normal karyotype and ultrasound findings of a RASopathy. Recognition of the common perinatal findings of these disorders should facilitate both their prenatal and neonatal diagnosis. © 2014 Wiley Periodicals, Inc.

  1. 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.

  2. Progeria Research Foundation Diagnostic Testing Program

    Science.gov (United States)

    ... Share the DVD Meet the Kids in the Movie Bring LATS to the classroom! Close News/Events ... this could severely affect their research results and interpretation. Through the PRF Diagnostics Program, each cell line ...

  3. How best to capture the respiratory consequences of prematurity?

    Science.gov (United States)

    Ciuffini, Francesca; Robertson, Colin F; Tingay, David G

    2018-03-31

    Chronic respiratory morbidity is a common complication of premature birth, generally defined by the presence of bronchopulmonary dysplasia, both clinically and in trials of respiratory therapies. However, recent data have highlighted that bronchopulmonary dysplasia does not correlate with chronic respiratory morbidity in older children born preterm. Longitudinally evaluating pulmonary morbidity from early life through to childhood provides a more rational method of defining the continuum of chronic respiratory morbidity of prematurity, and offers new insights into the efficacy of neonatal respiratory interventions. The changing nature of preterm lung disease suggests that a multimodal approach using dynamic lung function assessment will be needed to assess the efficacy of a neonatal respiratory therapy and predict the long-term respiratory consequences of premature birth. Our aim is to review the literature regarding the long-term respiratory outcomes of neonatal respiratory strategies, the difficulties of assessing dynamic lung function in infants, and potential new solutions. Copyright ©ERS 2018.

  4. Transcervical intrapartum amnioinfusion for preterm premature rupture of the membranes.

    Science.gov (United States)

    Puertas, Alberto; Tirado, Pilar; Pérez, Isabel; López, María S; Montoya, Francisco; Cañizares, José M; Miranda, José A

    2007-03-01

    To investigate the effect of transcervical amnioinfusion on the management of labour and neonatal outcomes in preterm premature rupture of the membranes. This clinical trial included 86 patients with premature rupture of the membranes between weeks 27 and 35 of gestation. Patients were randomly assigned to receive amnioinfusion via a two-way catheter or to the control group. Clinical management was otherwise the same in both groups. Amnioinfusion decreased the frequency of variable decelerations in fetal heart rate (27.9% versus 53.5%, pamnioinfusion for preterm premature rupture of the membranes reduced the number of interventions needed because of nonreassuring fetal status, and improved neonatal gasometric values without increasing maternal or fetal morbidity.

  5. Premature saturation in backpropagation networks: Mechanism and necessary conditions

    International Nuclear Information System (INIS)

    Vitela, J.E.; Reifman, J.

    1997-01-01

    The mechanism that gives rise to the phenomenon of premature saturation of the output units of feedforward multilayer neural networks during training with the standard backpropagation algorithm is described. The entire process of premature saturation is characterized by three distinct stages and it is concluded that the momentum term plays the leading role in the occurrence of the phenomenon. The necessary conditions for the occurrence of premature saturation are presented and a new method is proposed, based on these conditions, that eliminates the occurrence of the phenomenon. Validity of the conditions and the proposed method are illustrated through simulation results. Three case studies are presented. The first two came from a training session for classification of three component failures in a nuclear power plant. The last case, comes from a training session for classification of welded fuel elements

  6. 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.

  7. 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

  8. 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.

  9. 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.

  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. Tetra-amelia and splenogonadal fusion in Roberts syndrome

    Energy Technology Data Exchange (ETDEWEB)

    Ravel, T.J.L. de; Seftel, M.D.; Wright, C.A. [Univ. of the Witwatersrand, Johannesburg (South Africa)

    1997-01-20

    Roberts-SC phocomelia syndrome comprises limb deficiencies of variable severity, facial clefts, and other anomalies. Tetra-amelia may also be associated with facial clefts and similar anomalies. We report on a female infant with severe tetra-amelia, micrognathia, cleft palate, splenogonadal fusion, and premature centromere separation. We propose that this represents the severe expression of the Roberts-SC phocomelia syndrome. 18 refs., 6 figs.

  12. Cushing's syndrome in pregnancy and neonatal hypertrophic obstructive cardiomyopathy.

    Science.gov (United States)

    Fayol, L; Masson, P; Millet, V; Simeoni, U

    2004-10-01

    Cushing's syndrome is rare in pregnancy but can cause spontaneous abortion, stillbirth or premature birth. We report a case of transient hypertrophic obstructive cardiomyopathy in a newborn whose mother had hypercortisolism due to a primary adrenal lesion. There was no family history of hypertrophic obstructive cardiomyopathy. Follow-up revealed complete resolution of the cardiac abnormalities in the infant. Cushing's syndrome in the mother resolved after delivery. Although maternal hypercortisolism seldom results in symptomatic hypercortisolism in the newborn, hypertrophic obstructive cardiomyopathy can occur.

  13. DNA-Related Pathways Defective in Human Premature Aging

    OpenAIRE

    Bohr, Vilhelm A.

    2002-01-01

    One of the major issues in studies on aging is the choice of biological model system. The human premature aging disorders represent excellent model systems for the study of the normal aging process, which occurs at a much earlier stage in life in these individuals than in normals. The patients with premature aging also get the age associated diseases at an early stage in life, and thus age associated disease can be studied as well. It is thus of great interest to understand the molecular path...

  14. Immunology of Addison's disease and premature ovarian failure.

    Science.gov (United States)

    Husebye, Eystein S; Løvås, Kristian

    2009-06-01

    Autoimmune Addison's disease and autoimmune ovarian insufficiency are caused by selective targeting by T and B lymphocytes to the steroidogenic apparatus in these organs. Autoantibodies toward 21-hydroxylase are a clinically useful marker for autoimmune Addison's disease. Autoantibodies to 21-hydroxylase are found in premature ovarian insufficiency, but others also can be present, notably antibodies against side-chain cleavage enzyme. The autoimmune response primarily targets the theca cells, yielding elevated concentrations of inhibin, which is emerging as a useful diagnostic marker for autoimmune etiology of ovarian insufficiency. Little is known about its immunogenetics, but in contrast to Addison's disease, several experimental models of autoimmune premature ovarian insufficiency are available for study.

  15. 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

  16. The clinical and microbiological correlates of premature rupture of membranes

    Directory of Open Access Journals (Sweden)

    Karat C

    2006-01-01

    Full Text Available Prematurity is the cause of 85% of neonatal morbidity and mortality. Premature rupture of the membranes (PROM is associated with 30-40% of preterm deliveries. A case-control study conducted between July 2002 and 2003 examined the correlates and risk factors for PROM in Mysore, India. WBCs in vaginal fluid, leucocytes in urine, UTI and infection with E . coli , S . aureus , C. albicans and BV were significantly associated with PROM. BV, E. coli and WBCs in vaginal fluid were independent risk factors. Screening and treatment of BV and E. coli infection in pregnancy may reduce the risk of PROM.

  17. 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...

  18. 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 Denmark....... DESIGN: A retrospective, register-based cohort study. PARTICIPANTS: The study included premature infants (n = 6490) born in Denmark from 1997 to 2008. METHODS: The study sample and the 31 candidate risk factors were identified in 3 national registers. Data were linked through a unique civil registration...

  19. Radiation-induced life-shortening and premature aging

    International Nuclear Information System (INIS)

    Walburg, H.E. Jr.

    1975-01-01

    Data from a number of studies on irradiated laboratory animals showed that almost none of the characteristic lesions associated with senescence that were studied adequately reflects a radiation effect analogous to premature aging. In fact, most of the age-related changes showed no effect of radiation at all, and many of those that did (for example, graying of hair, sterility, cataract formation) did not appear to be due to similar mechanisms. It is concluded that, in the light of more recent information, the hypothesis of radiation-induced premature aging requires reassessment. (80 references) (CH)

  20. The clinical and microbiological correlates of premature rupture of membranes.

    Science.gov (United States)

    Karat, C; Madhivanan, P; Krupp, K; Poornima, S; Jayanthi, N V; Suguna, J S; Mathai, E

    2006-10-01

    Prematurity is the cause of 85% of neonatal morbidity and mortality. Premature rupture of the membranes (PROM) is associated with 30-40% of preterm deliveries. A case-control study conducted between July 2002 and 2003 examined the correlates and risk factors for PROM in Mysore, India. WBCs in vaginal fluid, leucocytes in urine, UTI and infection with E. coli, S. aureus, C. albicans and BV were significantly associated with PROM. BV, E. coli and WBCs in vaginal fluid were independent risk factors. Screening and treatment of BV and E. coli infection in pregnancy may reduce the risk of PROM.

  1. Postnatal Infections and Immunology Affecting Chronic Lung Disease of Prematurity.

    Science.gov (United States)

    Pryhuber, Gloria S

    2015-12-01

    Premature infants suffer significant respiratory morbidity during infancy with long-term negative consequences on health, quality of life, and health care costs. Enhanced susceptibility to a variety of infections and inflammation play a large role in early and prolonged lung disease following premature birth, although the mechanisms of susceptibility and immune dysregulation are active areas of research. This article reviews aspects of host-pathogen interactions and immune responses that are altered by preterm birth and that impact chronic respiratory morbidity in these children. Copyright © 2015 Elsevier Inc. All rights reserved.

  2. Retinopathy of prematurity: an epidemic in the making.

    Science.gov (United States)

    Quinn, Graham E; Gilbert, Clare; Darlow, Brian A; Zin, Andrea

    2010-10-01

    To explore the etiology, incidence and methods to prevent and treat severe retinopathy of prematurity (ROP), which is rapidly becoming a threat to the vision of babies in areas of the world where increasing numbers of premature babies are surviving. The data used in this review were mainly from Medline and PubMed published in English. The search term was "retinopathy of prematurity and premature birth". We discuss the historical perspectives, prevalence and incidence, classification and treatment methods of ROP in premature babies. Peripheral retinal ablation for eyes with severe ROP can help prevent progression to blindness and several large clinical trials have shown the effectiveness of this treatment in high risk eyes. As a greater proportion of VLBW and ELBW babies survive, the population of babies at risk increases. In various regions of the world, different identification criteria are used to determine which babies are at risk of blindness in order to provide timely diagnostic examinations and treatment as needed. Methods for preventing ROP include better ante-natal and obstetric care leading to a reduction in the rate of prematurity, the use of ante-natal corticosteroids, and better neonatal care practices. Recent developments have indicated that management of oxygen supplementation is important for the prevention of severe ROP; however, there is not yet known what oxygen saturation target should be adopted. Sepsis increases severe ROP in very preterm infants. Genetic associations and a telemedicine approach may be explored to detect ROP. Treatment of anti-VEGF therapy are potentially useful in eyes with severe ROP, but long term effects are not yet known and such treatment should be used with great caution. ROP is a potentially binding disease for premature babies which is becoming more prevalent with the development improving neonatal services in many countries in recent years. High priority should be placed on developing approaches to prevent ROP

  3. Premature Infant Care in the Early 20th Century.

    Science.gov (United States)

    Prescott, Stephanie; Hehman, Michelle C

    The complex early history of infant incubators provides insight into challenges faced by medical professionals as they promoted care for premature infants in the early 20th century. Despite their absence from the narrative to date, nurses played vital roles in the development of neonatal care. Working in many different settings, from incubator-baby shows to the first hospital unit designed specifically for premature infants, nurses administered quality care and promoted advanced treatment for these newborns. Copyright © 2017 AWHONN, the Association of Women's Health, Obstetric and Neonatal Nurses. Published by Elsevier Inc. All rights reserved.

  4. Ursodeoxycholic acid treatment of vanishing bile duct syndromes

    NARCIS (Netherlands)

    Pusl, Thomas; Beuers, Ulrich

    2006-01-01

    Vanishing bile duct syndromes (VBDS) are characterized by progressive loss of small intrahepatic ducts caused by a variety of different diseases leading to chronic cholestasis, cirrhosis, and premature death from liver failure. The majority of adult patients with VBDS suffer from primary biliary

  5. 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

  6. Impaired genome maintenance suppresses the growth hormone--insulin-like growth factor 1 axis in mice with Cockayne syndrome.

    Directory of Open Access Journals (Sweden)

    Ingrid van der Pluijm

    2007-01-01

    Full Text Available Cockayne syndrome (CS is a photosensitive, DNA repair disorder associated with progeria that is caused by a defect in the transcription-coupled repair subpathway of nucleotide excision repair (NER. Here, complete inactivation of NER in Csb(m/m/Xpa(-/- mutants causes a phenotype that reliably mimics the human progeroid CS syndrome. Newborn Csb(m/m/Xpa(-/- mice display attenuated growth, progressive neurological dysfunction, retinal degeneration, cachexia, kyphosis, and die before weaning. Mouse liver transcriptome analysis and several physiological endpoints revealed systemic suppression of the growth hormone/insulin-like growth factor 1 (GH/IGF1 somatotroph axis and oxidative metabolism, increased antioxidant responses, and hypoglycemia together with hepatic glycogen and fat accumulation. Broad genome-wide parallels between Csb(m/m/Xpa(-/- and naturally aged mouse liver transcriptomes suggested that these changes are intrinsic to natural ageing and the DNA repair-deficient mice. Importantly, wild-type mice exposed to a low dose of chronic genotoxic stress recapitulated this response, thereby pointing to a novel link between genome instability and the age-related decline of the somatotroph axis.

  7. Progerin sequestration of PCNA promotes replication fork collapse and mislocalization of XPA in laminopathy-related progeroid syndromes.

    Science.gov (United States)

    Hilton, Benjamin A; Liu, Ji; Cartwright, Brian M; Liu, Yiyong; Breitman, Maya; Wang, Youjie; Jones, Rowdy; Tang, Hui; Rusinol, Antonio; Musich, Phillip R; Zou, Yue

    2017-09-01

    Hutchinson-Gilford progeria syndrome (HGPS) is a rare genetic disorder that is caused by a point mutation in the LMNA gene, resulting in production of a truncated farnesylated-prelamin A protein (progerin). We previously reported that XPA mislocalized to the progerin-induced DNA double-strand break (DSB) sites, blocking DSB repair, which led to DSB accumulation, DNA damage responses, and early replication arrest in HGPS. In this study, the XPA mislocalization to DSBs occurred at stalled or collapsed replication forks, concurrent with a significant loss of PCNA at the forks, whereas PCNA efficiently bound to progerin. This PCNA sequestration likely exposed ds-ssDNA junctions at replication forks for XPA binding. Depletion of XPA or progerin each significantly restored PCNA at replication forks. Our results suggest that although PCNA is much more competitive than XPA in binding replication forks, PCNA sequestration by progerin may shift the equilibrium to favor XPA binding. Furthermore, we demonstrated that progerin-induced apoptosis could be rescued by XPA, suggesting that XPA-replication fork binding may prevent apoptosis in HGPS cells. Our results propose a mechanism for progerin-induced genome instability and accelerated replicative senescence in HGPS.-Hilton, B. A., Liu, J., Cartwright, B. M., Liu, Y., Breitman, M., Wang, Y., Jones, R., Tang, H., Rusinol, A., Musich, P. R., Zou, Y. Progerin sequestration of PCNA promotes replication fork collapse and mislocalization of XPA in laminopathy-related progeroid syndromes. © FASEB.

  8. Marfan Syndrome

    Science.gov (United States)

    Marfan syndrome is a disorder that affects connective tissue. Connective tissues are proteins that support skin, bones, blood vessels, ... A problem with the fibrillin gene causes Marfan syndrome. Marfan syndrome can be mild to severe, and ...

  9. Aarskog syndrome

    Science.gov (United States)

    Aarskog disease; Aarskog-Scott syndrome; AAS; Faciodigitogenital syndrome; Gaciogenital dysplasia ... Aarskog syndrome is a genetic disorder that is linked to the X chromosome. It affects mainly males, but females ...

  10. Williams syndrome

    Science.gov (United States)

    Williams-Beuren syndrome ... Williams syndrome is caused by not having a copy of several genes. It may be passed down in families. ... history of the condition. However, people with Williams syndrome have a 50% chance of passing the disorder ...

  11. Cushing's Syndrome

    OpenAIRE

    宗, 友厚; 伊藤, 勇; 諏訪, 哲也; 武田, 純; MUNE, Tomoatsu

    2003-01-01

    Sixteen cases of verified Cushing's syndrome, and twelve cases of probable Cushing's syndrome were reviewed and data on them were compared with various reports on Cushing's syndrome in the literature.

  12. Tourette syndrome

    Science.gov (United States)

    Gilles de la Tourette syndrome; Tic disorders - Tourette syndrome ... Tourette syndrome is named for Georges Gilles de la Tourette, who first described this disorder in 1885. The disorder is likely passed down through families. ...

  13. 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.

  14. Hepatorenal syndrome

    Science.gov (United States)

    ... 2016:chap 153. Nevah MI, Fallon MB. Hepatic encephalopathy, hepatorenal syndrome, hepatopulmonary syndrome, and other systemic complications of liver disease. In: Feldman M, Friedman LS, Brandt LJ, ...

  15. Evaluation of premature failure of a gas turbine component

    CSIR Research Space (South Africa)

    Dedekind, MO

    1996-01-03

    Full Text Available A case study of certain gas turbine stator vanes which fail prematurely is presented, with a view to determining whether operational procedure might have caused the failures. The engines had been operated from a ‘hot-and-high’ environment...

  16. 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.

  17. 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 ...

  18. Management of premature rupture of the membranes after 34 weeks ...

    African Journals Online (AJOL)

    Objective. To determine the optimal way to manage patients with premature rupture of the membranes after 34 weeks' gestation. Design. A prospective, randomised controlled trial comparing immediate induction and delayed induction after 24 • 48 hours. Setting. Tygerberg Hospital, Gape Town. Participants. Seventy ...

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

    African Journals Online (AJOL)

    Michelle Pascoe

    through semi-structured interviews. ... helping their infants to communicate through physical contact and talking. ... They face the stress of their baby being placed in the ... premature infants to be more vulnerable when compared to ... The study used a qualitative approach to investigate the na- ... detailed notes were made.

  20. Neurological consequences of systemic inflammation in the premature neonate.

    Science.gov (United States)

    Patra, Aparna; Huang, Hong; Bauer, John A; Giannone, Peter J

    2017-06-01

    Despite substantial progress in neonatal care over the past two decades leading to improved survival of extremely premature infants, extreme prematurity continues to be associated with long term neurodevelopmental impairments. Cerebral white matter injury is the predominant form of insult in preterm brain leading to adverse neurological consequences. Such brain injury pattern and unfavorable neurologic sequelae is commonly encountered in premature infants exposed to systemic inflammatory states such as clinical or culture proven sepsis with or without evidence of meningitis, prolonged mechanical ventilation, bronchopulmonary dysplasia, necrotizing enterocolitis and chorioamnionitis. Underlying mechanisms may include cytokine mediated processes without direct entry of pathogens into the brain, developmental differences in immune response and complex neurovascular barrier system that play a critical role in regulating the cerebral response to various systemic inflammatory insults in premature infants. Understanding of these pathologic mechanisms and clinical correlates of such injury based on serum biomarkers or brain imaging findings on magnetic resonance imaging will pave way for future research and translational therapeutic opportunities for the developing brain.

  1. Neurological consequences of systemic inflammation in the premature neonate

    Directory of Open Access Journals (Sweden)

    Aparna Patra

    2017-01-01

    Full Text Available Despite substantial progress in neonatal care over the past two decades leading to improved survival of extremely premature infants, extreme prematurity continues to be associated with long term neurodevelopmental impairments. Cerebral white matter injury is the predominant form of insult in preterm brain leading to adverse neurological consequences. Such brain injury pattern and unfavorable neurologic sequelae is commonly encountered in premature infants exposed to systemic inflammatory states such as clinical or culture proven sepsis with or without evidence of meningitis, prolonged mechanical ventilation, bronchopulmonary dysplasia, necrotizing enterocolitis and chorioamnionitis. Underlying mechanisms may include cytokine mediated processes without direct entry of pathogens into the brain, developmental differences in immune response and complex neurovascular barrier system that play a critical role in regulating the cerebral response to various systemic inflammatory insults in premature infants. Understanding of these pathologic mechanisms and clinical correlates of such injury based on serum biomarkers or brain imaging findings on magnetic resonance imaging will pave way for future research and translational therapeutic opportunities for the developing brain.

  2. Feeding premature neonates: Kinship and species in translational neonatology.

    Science.gov (United States)

    Dam, Mie S; Juhl, Sandra M; Sangild, Per T; Svendsen, Mette N

    2017-04-01

    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 the researchers refer to as the 'translatability' of the results. In the NICU, parents of premature infants likewise imagine a kind of interspecies kinship when presented with the option to supplement mother's own milk with bovine colostrum for the first weeks after birth. However, in this setting the NICU parents may perceive the animality of bovine colostrum, and the background information obtained in piglets, as a threat to the infants' connection to their biological parents as well as the larger human collective. Our study argues that the 'species flexibility' of premature beings profoundly shapes the translational processes in the field of neonatology research. Copyright © 2017 Elsevier Ltd. All rights reserved.

  3. Retinopathy of prematurity in infants with birth weight above 1500 ...

    African Journals Online (AJOL)

    Objective: To identify the rate and prognosis of retinopathy of prematurity (ROP) among newborn infants of birthweight of above 1500 grams, and the possible risk factors associated with the disease. Design: A prospective cohort study. Setting: Neonatal unit at Maternity Hospital, Kuwait city, Kuwait. Methods: All low birth ...

  4. Bevacizumab treatment for retinopathy of prematurity in South Africa

    African Journals Online (AJOL)

    ROP in the developing world. Retinopathy of prematurity (ROP) is a growing problem in South. Africa (SA), as it is in many parts of the developing world. The so-called 'third epidemic' of ROP is caused by a combination of high preterm birth rates, relatively good infant survival and inadequate oxygen monitoring in neonatal ...

  5. Screening for retinopathy of prematurity in a provincial hospital in ...

    African Journals Online (AJOL)

    Background. Retinopathy of prematurity (ROP) is an emerging public health problem in many middle-income countries where improved neonatal survival rates coupled with inadequate health resources have created a new epidemic. There are limited available data on the magnitude of the problem, and screening in South ...

  6. To Correct or Not to Correct: Age Adjustment for Prematurity.

    Science.gov (United States)

    Aylward, Glen P.; And Others

    To evaluate whether conceptional or chronologic age should be used to determine scores in developmental follow-up studies, a study was made of 236 normal and 66 neurologically abnormal infants who were similar with respect to conceptional age but different with respect to degree of prematurity. Assessments of possible differences in cognitive and…

  7. 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...

  8. The progress of prophylactic treatment in retinopathy of prematurity

    Science.gov (United States)

    Zhang, Hong-Bing; Wang, Xiao-Dong; Xu, Kun; Li, Xiao-Gang

    2018-01-01

    Retinopathy of prematurity (ROP) is a retinal vascular disorder frequently found in premature infants. Different therapeutic strategies have been developed to treat ROP. However, there are still many children with ROP suffering by severe limitations in vision or even blindness. Recently, ROP has been suggested to be caused by abnormal development of the retinal vasculature, but not simply resulted by retinal neovascularization which takes about 4 to 6wk after birth in premature infants. Thus, instead of focusing on how to reduce retinal neovascularization, understanding the pathological changes and mechanisms that occur prior to retinal neovascularization is meaningful, which may lead to identify novel target(s) for the development of novel strategy to promote the healthy growth of retinal blood vessels rather than passively waiting for the appearance of retinal neovascularization and removing it by force. In this review, we discussed recent studies about, 1) the pathogenesis prior to retinal neovascularization in oxygen-induced retinopathy (OIR; a ROP in animal model) and in premature infants with ROP; 2) the preclinical and clinical research on preventive treatment of early OIR and ROP. We will not only highlight the importance of the mechanisms and signalling pathways in regulating early stage of ROP but also will provide guidance for actively exploring novel mechanisms and discovering novel treatments for early phase OIR and ROP prior to retinal neovascularization in the future. PMID:29862189

  9. Tackling the premature convergence problem in Monte-Carlo localization

    NARCIS (Netherlands)

    Kootstra, Gert; de Boer, Bart

    Monte-Carlo localization uses particle filtering to estimate the position of the robot. The method is known to suffer from the loss of potential positions when there is ambiguity present in the environment. Since many indoor environments are highly symmetric, this problem of premature convergence is

  10. Evaluation by computed tomography in premature and newborn infants

    International Nuclear Information System (INIS)

    Kuckein, D.

    1981-01-01

    By means of cranio-cerebral computed tomography hypoxic brain damage of varying degrees and different types may be demonstrated in premature infants and high-risk newborns. Paraventricular leucomalacia of varying extent up to porencephalic defects are found, as well as cortical infarctions, hemorrhage into brain tissue or ventricles, cerebral atrophy, developing hydrocephalus and congenital anomalies. (orig.) [de

  11. 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.

  12. 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 ...

  13. Should preterm labour and preterm premature rupture of ...

    African Journals Online (AJOL)

    Should preterm labour and preterm premature rupture of membranes be treated with antibiotics? AP Macdonald. Abstract. No Abstract. Full Text: EMAIL FULL TEXT EMAIL FULL TEXT · DOWNLOAD FULL TEXT DOWNLOAD FULL TEXT · http://dx.doi.org/10.4314/ogf.v19i2.43719 · AJOL African Journals Online. HOW TO ...

  14. The use of dexamethasone in women with preterm premature ...

    African Journals Online (AJOL)

    The use of dexamethasone in women with preterm premature rupture of membranes - A multicentre, double-blind, placebocontrolled, randomised trial. R.C. Pattinson, J.D. Makin, M. Funk, S.D. Delport, A.P. Macdonald, K. Norman, G. Kirsten, C. Stewart, D. Woods, G. Moller, E. Coetzee, P. Smith, J. Anthony, M. Schoon, ...

  15. Bevacizumab treatment for retinopathy of prematurity in South Africa

    African Journals Online (AJOL)

    Retinopathy of prematurity (ROP) is a growing problem in South. Africa (SA), as it is .... detected in the serum of both infants and adults after intraocular injection,[7] ... use of anti-VEGF agents to treat macular degeneration, diabetic retinopathy ...

  16. Postnatal corticosteroids and risk of retinopathy of prematurity.

    Science.gov (United States)

    Movsas, Tammy Z; Spitzer, Alan R; Gewolb, Ira H

    2016-08-01

    To investigate the association between postnatal steroids and retinopathy of prematurity (ROP) in neonates born with birth weights at the limit of viability (large study cohort of critically low birth weight infants ROP was more common in neonates exposed to postnatal steroids. Copyright © 2016 American Association for Pediatric Ophthalmology and Strabismus. Published by Elsevier Inc. All rights reserved.

  17. Congenital mesoblastic nephroma in a premature neonate: A case ...

    African Journals Online (AJOL)

    2013-06-11

    Jun 11, 2013 ... We report a case of CMN in a 30 week old premature female neonate seen at autopsy who was born ... is very good and in most cases, surgery alone may effect a .... CMN with intratumoral hemorrhage and all cases with large.

  18. Premature atherosclerosis after treatment for acute lymphoblastic leukemia in childhood

    Directory of Open Access Journals (Sweden)

    Elżbieta Sadurska

    2018-03-01

    Survivors of childhood ALL in the examined group demonstrated elevated concentrations of selected new biomarkers and increased IMT values, compared to controls, which may confirm the occurrence of endothelial injuries in blood vessels. This study indicates that subjects treated for childhood malignancy are at a higher risk of prematurely developing atherosclerosis.

  19. [Initial results of the Erfurt Prevention of Prematurity Campaign].

    Science.gov (United States)

    Hoyme, U B; Grosch, A; Roemer, V M; Saling, E

    1998-01-01

    Genital infection particularly bacterial vaginosis (BV) increases the relative risk of prematurity. Detection of disturbances of vaginal milieu at an early stage and the use of suitable countermeasures such as intervention with antimicrobial substances, e.g. clindamycin, can reduce the preterm birth rate, provided the diagnosis is made early enough. Since October 1996 pregnant women being given prenatal care in 16 of the 29 outpatient offices in Erfurt, have been informed about the Prematurity Prevention Programme and have been offered to take part and to perform self-measurements of their vaginal pH twice a week in order to screen for any disturbances in the vaginal milieu. Special CarePlan-VpH gloves (Selfcare, Oberhaching) were used to identify patients a risk (pH > 4.7). The pregnant women taking part in the programme were instructed to see their physician immediately, if abnormal values were present, in order to get them confirmed and to start lactobacillus acidophilus therapy (Gynoflor, Nourypharma, Oberschleissheim) or, in case of BV, to treat with clindamycin cream (Sobelin, Upjohn, Erlangen) i.vag. Patients being given prenatal care in the 13 outpatient offices not participating and other pregnant women in Erfurt who were not interested in the programme served as control group. Up to now 59 out of 314 women in the intervention group have been identified as risk cases (p > or = 4.7). 52 of them were treated with a lactobacillus preparation, and 19 additionally with clindamycin cream, 3 patients refused to have any therapy. In this ongoing study the prematurity rate was 8.3% in the self-measurement/intervention group vs. 13.0% in the control group (n = 1,842); 0.3% vs. 3.3% of the neonates belonged to the group of very early prematures with a gestational age of < 32 + 0 weeks (p < 0.01). PROM was registered in 22.3% vs. 32.1% (p < 0.001) respectively. Self-measurement of vaginal pH at close intervals, as recommended by Saling, leads to the early

  20. Why do premature newborn infants display elevated blood adenosine levels?

    Science.gov (United States)

    Panfoli, Isabella; Cassanello, Michela; Bruschettini, Matteo; Colella, Marina; Cerone, Roberto; Ravera, Silvia; Calzia, Daniela; Candiano, Giovanni; Ramenghi, Luca

    2016-05-01

    Our preliminary data show high levels of adenosine in the blood of very low birth weight (VLBW) infants, positively correlating to their prematurity (i.e. body weight class). This prompted us to look for a mechanism promoting such impressive adenosine increase. We hypothesized a correlation with oxygen challenge. In fact, it is recognized that either oxygen lack or its excess contribute to the pathogenesis of the injuries of prematurity, such as retinopathy (ROP) and periventricular white matter lesions (PWMI). The optimal concentration of oxygen for resuscitation of VLBW infants is currently under revision. We propose that the elevated adenosine blood concentrations of VLBW infants recognizes two sources. The first could be its activity-dependent release from unmyelinated brain axons. Adenosine in this respect would be an end-product of the hypometabolic VLBW newborn unmyelinated axon intensely firing in response to the environmental stimuli consequent to premature birth. Adenosine would be eventually found in the blood due to blood-brain barrier immaturity. In fact, adenosine is the primary activity-dependent signal promoting differentiation of premyelinating oligodendrocyte progenitor cells (OPC) into myelinating cells in the Central Nervous System, while inhibiting their proliferation and inhibiting synaptic function. The second, would be the ecto-cellular ATP synthesized by the endothelial cell plasmalemma exposed to ambient oxygen concentrations due to premature breathing, especially in lung. ATP would be rapidly transformed into adenosine by the ectonucleotidase activities such as NTPDase I (CD39), and NT5E (CD73). An ectopic extra-mitochondrial aerobic ATP synthetic ability was reported in many cell plasma-membranes, among which endothelial cells. The potential implications of the cited hypotheses for the neonatology area would be great. The amount of oxygen administration for reviving of newborns would find a molecular basis for its assessment. VLBW

  1. The economic impact of prematurity and bronchopulmonary dysplasia.

    Science.gov (United States)

    Álvarez-Fuente, María; Arruza, Luis; Muro, Marta; Zozaya, Carlos; Avila, Alejandro; López-Ortego, Paloma; González-Armengod, Carmen; Torrent, Alba; Gavilán, Jose Luis; Del Cerro, María Jesús

    2017-12-01

    Bronchopulmonary dysplasia (BPD) is one of the most serious chronic lung diseases in infancy and one of the most important sequels of premature birth (prevalence of 15-50%). Our objective was to estimate the cost of BPD of one preterm baby, with no other major prematurity-related complications, during the first 2 years of life in Spain. Data from the Spanish Ministry of Health regarding costs of diagnosis-related group of preterm birth, hospital admissions and visits, palivizumab administration, and oxygen therapy in the year 2013 were analyzed. In 2013, 2628 preterm babies were born with a weight under 1500 g; 50.9% were males. The need for respiratory support was 2.5% needed only oxygen therapy, 39.5% required conventional mechanical ventilation, and 14.9% required high-frequency ventilation. The incidence of BPD was of 34.9%. The cost of the first 2 years of life of a preterm baby with BPD and no other major prematurity-related complications ranged between 45,049.81 € and 118,760.43 €, in Spain, depending on birth weight and gestational age. If the baby required home oxygen therapy or developed pulmonary hypertension, this cost could add up to 181,742.43 €. Prematurity and BPD have an elevated cost, even for public health care systems. This cost will probably increase in the coming years if the incidence and survival of preterm babies keeps rising. The development of new therapies and preventive strategies to decrease the incidence of BPD and other morbidities associated with prematurity should be a priority. What is known: • Bronchopulmonary dysplasia (BPD) is a serious chronic lung disease related with premature birth. • BPD is an increasing disease due to the up-rise in the number of premature births. What is new: • The economic cost of preterm birth and BPD has never before been estimated in Spain nor published with European data. • Preterm babies with BPD and a good clinical outcome carry also an important economic and social burden.

  2. Hallermann-Streiff syndrome associated with small cerebellum, endocrinopathy and increased chromosomal breakage.

    Science.gov (United States)

    Hou, J W

    2003-07-01

    Hallermann-Streiff syndrome (HSS) is a rare clinic entity of unknown aetiology. Further clinical and metabolic-genetic evaluations are indicated. A 2-mo-old female baby presented with ocular abnormalities and severe failure to thrive since birth. The clinical features were compatible with the diagnosis of HSS. Further imaging, metabolic and cytogenetic examinations were performed. Features characteristic of HSS were dyscephaly with mandibular and nasal cartilage hypoplasia, microphthalmia, bilateral cataracts with congenital glaucoma, natal teeth and proportionate dwarfism. Rare anomalies such as choanal atresia and small cerebellum, very low insulin-like growth factor I level, hypothyroidism, generalized organic aciduria were also noticed. An increased chromosomal breakage rate is suggestive of the existence of some DNA repair defects in HSS patients. The associated anomalies in this patient may broaden the clinical spectrum of HSS. Underlying conditions of organic aciduria, growth factor deficiency and impaired DNA repair are likely to contribute to the progeria-like facies, congenital cataracts and growth failure.

  3. Biomarkers of brain injury in the premature infant

    Directory of Open Access Journals (Sweden)

    Martha V. Douglas-Escobar

    2013-01-01

    Full Text Available The term encephalopathy of prematurity encompasses not only the acute brain injury (such as intraventricular hemorrhage but also complex disturbance on the infant’s subsequent brain development. In premature infants, the most frequent recognized source of brain injury is intraventricular hemorrhage (IVH and periventricular leukomalacia (PVL. Furthermore 20-25% infants with birth weigh less than 1,500 g will have IVH and that proportion increases to 45% if the birth weight is less than 500-750 g. In addition, nearly 60% of very low birth weight newborns will have hypoxic-ischemic injury. Therefore permanent lifetime neurodevelopmental disabilities are frequent in premature infants. Innovative approach to prevent or decrease brain injury in preterm infants requires discovery of biomarkers able to discriminate infants at risk for injury, monitor the progression of the injury and assess efficacy of neuroprotective clinical trials. In this article, we will review biomarkers studied in premature infants with IVH, Post-hemorrhagic ventricular dilation (PHVD and PVL including: S100b, Activin A, erythropoietin, chemokine CCL 18, GFAP and NFL will also be examined. Some of the most promising biomarkers for IVH are S100β and Activin. The concentrations of TGF-β1, MMP-9 and PAI-1 in cerebrospinal fluid could be used to discriminate patients that will require shunt after post-hemorrhagic ventricular dilation. Neonatal brain injury is frequent in premature infants admitted to the neonatal intensive care and we hope to contribute to the awareness and interest in clinical validation of established as well as novel neonatal brain injury biomarkers.

  4. 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

  5. Identification of 30 protein species involved in replicative senescence and stress-induced premature senescence

    DEFF Research Database (Denmark)

    Dierick, Jean François; Kalume, Dário E; Wenders, Frédéric

    2002-01-01

    Exposure of human proliferative cells to subcytotoxic stress triggers stress-induced premature senescence (SIPS) which is characterized by many biomarkers of replicative senescence. Proteomic comparison of replicative senescence and stress-induced premature senescence indicates that, at the level...

  6. Relationship between serum 25-hydroxy vitamin D levels and retinopathy of prematurity.

    Science.gov (United States)

    Kabataş, Emrah Utku; Dinlen, Nurdan Fettah; Zenciroğlu, Ayşegül; Dilli, Dilek; Beken, Serdar; Okumuş, Nurullah

    2017-11-01

    Aim To evaluate the relationship between serum 25-hydroxy vitamin D, 25 (OH) D, levels and retinopathy of prematurity. Methods and Results Serum 25 (OH) D levels were measured in 97 very low birth weight infants, prior to vitamin D supplementation. The development of retinopathy of prematurity and its treatment requirement were evaluated. At follow-up, retinopathy of prematurity developed in 71 (73.2%) infants. Serum 25 (OH) D levels were significantly lower in infants with retinopathy of prematurity than ones without retinopathy of prematurity ( P prematurity development [OR: 1.14, 95% CI (1.02-1.27), P = 0.02]. Conclusion Lower 25 (OH) D levels in the first days of life may be related to retinopathy of prematurity development and treatment requirement in premature infants.

  7. An evaluation of the screening for retinopathy of prematurity in very ...

    African Journals Online (AJOL)

    The principal risk factor was the supply of unmonitored ... of blindness from untreated ROP is likely to increase. It was first ... premature babies at risk of ROP, treating those premature babies .... Stage 5: complete retinal detachment. Extent.

  8. 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

  9. Soft-tissue mineralization in Werner syndrome

    Energy Technology Data Exchange (ETDEWEB)

    Leone, Antonio; Costantini, Alessandro Maria; Brigida, Raffaela; Antoniol, Onorina Monica; Bonomo, Lorenzo [Universita Cattolica School of Medicine, Department of Radiology, Rome (Italy); Antonelli-Incalzi, Raffaele [Universita Cattolica School of Medicine, Department of Geriatrics, Rome (Italy)

    2005-01-01

    Werner syndrome is a rare autosomal recessive disorder characterized by clinical signs of premature aging, short stature, scleroderma-like skin changes, endocrine abnormalities, cataracts, and an increased incidence of malignancies. We report on a 48-year-old woman with Werner syndrome associated with intracranial meningiomas who had extensive musculoskeletal manifestations including osteoporosis of the extremities, extensive tendinopathy about the ankles, osteomyelitis of the phalanges of the first left toe, abundant soft-tissue calcification, and two dense ossified soft-tissue masses, with cortical bone and trabeculae arising from the posterosuperior aspect of the calcanei and extending into Kager fat pads. A review of previous descriptions of the radiological abnormalities of Werner syndrome indicates that the presence of soft-tissue calcifications has either not been noted or been mentioned only briefly. Moreover, there is no mention of bony masses associated with Werner syndrome in the world literature, and this would appear to be the first report of this kind. (orig.)

  10. [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.

  11. 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.

  12. Prematurity and fetal lung response after tracheal occlusion in fetuses with severe congenital diaphragmatic hernia.

    Science.gov (United States)

    Sananes, Nicolas; Rodo, Carlota; Peiro, Jose Luis; Britto, Ingrid Schwach Werneck; Sangi-Haghpeykar, Haleh; Favre, Romain; Joal, Arnaud; Gaudineau, Adrien; Silva, Marcos Marques da; Tannuri, Uenis; Zugaib, Marcelo; Carreras, Elena; Ruano, Rodrigo

    2016-09-01

    To evaluate the independent association of fetal pulmonary response and prematurity to postnatal outcomes after fetal tracheal occlusion for congenital diaphragmatic hernia. Fetal pulmonary response, prematurity (prematurity (prematurity was not statistically associated with mortality after controlling for fetal pulmonary response (aOR 0.52, 95% CI 0.12-2.30, p=0.367). Fetal pulmonary response after FETO is the most important factor associated with survival, independently from the gestational age at delivery.

  13. Retinopathy of prematurity: Revisiting incidence and risk factors from Oman compared to other countries.

    Science.gov (United States)

    Reyes, Zenaida Soriano; Al-Mulaabed, Sharef Waadallah; Bataclan, Flordeliz; Montemayor, Cheryl; Ganesh, Anuradha; Al-Zuhaibi, Sanaa; Al-Waili, Huda; Al-Wahibi, Fatma

    2017-01-01

    The purpose of this study is to determine the incidence of retinopathy of prematurity (ROP) and the maternal/neonatal risk factors at a tertiary care hospital in Oman, compared to other countries. A retrospective analysis of premature neonates born with gestational age (GA) 24-32 weeks at Sultan Qaboos University Hospital, Oman, from January 2007 to December 2010. Maternal and neonatal in-hospital course was retrieved. The incidence of ROP was reported. Risk factors analyses were performed using univariate and multivariate statistics. A total of 171 neonates (57% males, 43% females) were included for analysis. The incidence of ROP (any stage) was 69/171 (40.4%). Infants with ROP had significantly lower GA (27.7±2 weeks) compared to non-ROP group (30.2±1.7 weeks), P < 0.001),P < 0.001) and significantly lower birth weight (BW) (948 ± 242 g in ROP group vs. 1348 ± 283 g in non-ROP group;P < 0.001). Other significant risk factors associated with ROP were: small for GA, respiratory distress syndrome, requirement for ventilation, duration of ventilation or oxygen therapy, bronchopulmonary dysplasia, hyperglycemia, late onset sepsis (clinical or proven), necrotizing enterocolitis, patent ductus arteriosus, seizures, and number of blood transfusions. There was no significant difference in maternal characteristics between the ROP and non-ROP groups except that mothers of infants with ROP were found to be significantly younger. Logistic regression analysis revealed early GA, low BW, duration of Oxygen therapy, and late-onset clinical or proven sepsis as independent risk factors. ROP is still commonly encountered in neonatal practice in Oman and other countries. Early GA, low BW, and prolonged oxygen therapy continue to be the main risk factors associated with the occurrence of ROP in our setting. In addition, an important preventable risk factor identified in our cohort includes clinical or proven late-onset sepsis.

  14. Causes and timing of death in extremely premature infants from 2000 through 2011.

    Science.gov (United States)

    Patel, Ravi M; Kandefer, Sarah; Walsh, Michele C; Bell, Edward F; Carlo, Waldemar A; Laptook, Abbot R; Sánchez, Pablo J; Shankaran, Seetha; Van Meurs, Krisa P; Ball, M Bethany; Hale, Ellen C; Newman, Nancy S; Das, Abhik; Higgins, Rosemary D; Stoll, Barbara J

    2015-01-22

    Understanding the causes and timing of death in extremely premature infants may guide research efforts and inform the counseling of families. We analyzed prospectively collected data on 6075 deaths among 22,248 live births, with gestational ages of 22 0/7 to 28 6/7 weeks, among infants born in study hospitals within the National Institute of Child Health and Human Development Neonatal Research Network. We compared overall and cause-specific in-hospital mortality across three periods from 2000 through 2011, with adjustment for baseline differences. The number of deaths per 1000 live births was 275 (95% confidence interval [CI], 264 to 285) from 2000 through 2003 and 285 (95% CI, 275 to 295) from 2004 through 2007; the number decreased to 258 (95% CI, 248 to 268) in the 2008-2011 period (P=0.003 for the comparison across three periods). There were fewer pulmonary-related deaths attributed to the respiratory distress syndrome and bronchopulmonary dysplasia in 2008-2011 than in 2000-2003 and 2004-2007 (68 [95% CI, 63 to 74] vs. 83 [95% CI, 77 to 90] and 84 [95% CI, 78 to 90] per 1000 live births, respectively; P=0.002). Similarly, in 2008-2011, as compared with 2000-2003, there were decreases in deaths attributed to immaturity (P=0.05) and deaths complicated by infection (P=0.04) or central nervous system injury (Pbirth, and 17.3% occurred after 28 days. We found that from 2000 through 2011, overall mortality declined among extremely premature infants. Deaths related to pulmonary causes, immaturity, infection, and central nervous system injury decreased, while necrotizing enterocolitis-related deaths increased. (Funded by the National Institutes of Health.).

  15. Retinopathy of prematurity in a cohort of neonates at Groote Schuur ...

    African Journals Online (AJOL)

    Retinopathy of prematurity (ROP) is a preventable cause of visual impairment in premature ... and extremely low-birth-weight (ELBW) premature infants from the West Metro ...... Arch Ophthalmol 2000;118(5):645-649. http://dx.doi.org/10.1001/.

  16. The importance of chromosome studies in Roberts syndrome/SC phocomelia and other cohesinopathies.

    Science.gov (United States)

    Gerkes, Erica H; van der Kevie-Kersemaekers, Anne-Marie F; Yakin, Mariam; Smeets, Dominique F C M; van Ravenswaaij-Arts, Conny M A

    2010-01-01

    Roberts syndrome/SC phocomelia is a rare, autosomal recessive syndrome characterised by pre- and postnatal growth retardation, microcephaly, craniofacial anomalies, mental retardation, and tetraphocomelia in varying degrees of severity. The clinical diagnosis can be challenging in phenotypically mild cases. In the extremely mild case presented here, specific mitotic abnormalities were detected and proved to be very helpful, since Roberts syndrome/SC phocomelia could be diagnosed after finding premature centromere separation and somatic aneuploidy at routine karyotyping. We discuss these and other mitotic cytogenetic abnormalities that can be of significant diagnostic importance, but which will be missed if only array studies are performed. We also discuss the difference between premature centromere separation and premature (sister) chromatid separation. Copyright (c) 2009 Elsevier Masson SAS. All rights reserved.

  17. NEONATAL ABSTINENCE SYNDROME - CASE REPORT

    Directory of Open Access Journals (Sweden)

    Aleksandra Matic

    2008-01-01

    Full Text Available Neonatal abstinence syndrome (NAS refers to the constellation of signs and symptoms exhibited by a newborn of drug-abusing mother. NAS is multisystemic disorder, most frequently involving central nervous and gastrointestinal systems with irritability, high-pitched cry, hyperactive reflexes, increased muscle tone, tremors, generalized convulsions, feeding and sleeping disorders, tachycardia, tachypnea, apnea, termolability and sweating, frequent hiccups, yawning and sneezing, vomiting, diarrhea and dehydration.Intrauterine narcotic disposition can give some other adverse effects beside NAS: fetal distress, premature birth, intrauterine growth retardation, microcephaly, increased incidence of congenital anomalies (cardiac and genitourinary anomalies, cleft palate, biliar atresia. Significantly increased risks of sudden infant’s death syndrome (SIDS, abnormalities in neurocognitive and behavioral development and deficiency in motor functions have also been noticed after the long-term surveys of these children.This paper is a case report of a newborn with developed clinical signs of NAS, but it also discusses diagnostics and management of such cases

  18. 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

    Context: 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. Objective: 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. Participants: 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. Outcomes: 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. Results: Amygdala volumes were smaller in preterm infants at TEA than term infants (mean difference 138.03 mm3, p amygdala volumes were larger than left amygdala volumes (mean difference 36.88 mm3, p Amygdala volumes showed significant correlation with the intensity of the escape response to a fearsome toy (rs = 0.38, p = 0.013), and were larger in infants showing an escape response compared to the infants showing no escape response (mean difference 120.97 mm3, p = 0.005). Amygdala volumes were not significantly correlated with the intensity of facial fear, distress vocalizations, bodily fear and positive motor activity in the fear episode. Conclusion: 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

  19. Early orthodontic management of Crouzon Syndrome: a case report.

    Science.gov (United States)

    Hlongwa, P

    2009-03-01

    Crouzon Syndrome is an autosomal dominant disorder with complete penetrance and variable expressivity. Described by a French neurosurgeon in 1912, it is a rare genetic disorder. Crouzon syndrome is caused by mutation in the fibroblast growth factor receptor 2 (FGFR2) gene. The disease is characterized by premature synostosis of coronal and sagittal sutures which begins in the first year of life. Once the sutures become closed, growth potential to those sutures is restricted. However, multiple sutural synostoses frequently extend to premature fusion of skull base causing midfacial hypoplasia, shallow orbit, maxillary hypoplasia and occasional upper airway obstruction.The case of a 7-year-old South African black boy with Crouzon Syndrome is presented. He presented with characteristic triad of cranial deformity, maxillary hypoplasia and exophthalmos. The clinical, cephalometric features and initial orthodontic management of this patient are discussed as part of multidisciplinary management.

  20. MRI characterization of the glenohumeral joint in Apert syndrome

    Energy Technology Data Exchange (ETDEWEB)

    McHugh, Tami [University of Illinois-Chicago, Department of Radiology, Chicago, IL (United States); Wyers, Mary [Children' s Memorial Hospital, Department of Medical Imaging, Children' s Plaza, Box 9, Chicago, IL (United States); King, Erik [Children' s Memorial Hospital, Orthopaedic Surgery, Chicago, IL (United States)

    2007-06-15

    The features of craniosynostosis, facial dysmorphism, and distal extremity syndactyly in Apert syndrome are well known. However, there have been limited descriptions of the associated glenohumeral joint findings. We report the radiographic and MRI abnormalities of the glenohumeral joints in a 10-month-old girl with Apert syndrome. The MRI findings in the girl support the hypothesis that the pathogenesis of Apert syndrome is caused by defective cartilage segmentation with premature and abnormal ossification of a cartilage bar within a joint space. The resultant shoulder joint deformity is related to glenoid hypoplasia and growth arrest of the medial aspect of the humeral head. (orig.)

  1. [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.

  2. ADVANCES IN UNDERSTANDING AND MANAGEMENT OF RETINOPATHY OF PREMATURITY

    Science.gov (United States)

    Hartnett, Mary Elizabeth

    2016-01-01

    The understanding, diagnosis and treatment of retinopathy of prematurity (ROP) have changed in the last seventy years since the original description of retrolental fibroplasia associated with high oxygenation. It is now recognized that ROP differs in appearance world-wide and as ever smaller and younger premature infants survive. New methods are being evaluated to image the retina, diagnose severe ROP, and determine windows of time for treatment to save eyes and improve visual and neural outcomes. New treatments to promote physiologic retinal vascular development, vascular repair, and inhibit vasoproliferation by regulating proteins involved in vascular endothelial growth factor, insulin-like growth factor, or erythropoietin signaling. Reducing excessive oxidative/nitrosative stress and understanding progenitor cells and neurovascular and glial vascular interactions are being studied. PMID:28012875

  3. Cytogenetic abnormalities in Tunisian women with premature ovarian failure.

    Science.gov (United States)

    Ayed, Wiem; Amouri, Ahlem; Hammami, Wajih; Kilani, Olfa; Turki, Zinet; Harzallah, Fatma; Bouayed-Abdelmoula, Nouha; Chemkhi, Imen; Zhioua, Fethi; Slama, Claude Ben

    2014-12-01

    To identify the distribution of chromosome abnormalities among Tunisian women with premature ovarian failure (POF) referred to the department of Cytogenetic at the Pasteur Institute of Tunis (Tunisia), standard cytogenetic analysis was carried out in a total of 100 women younger than 40 affected with premature ovarian failure. We identified 18 chromosomal abnormalities, including seven X-numerical anomalies in mosaic and non-mosaic state (45,X; 47,XXX), four sex reversal, three X-structural abnormalities (terminal deletion and isochromosomes), one autosomal translocation and one supernumerary marker. The overall prevalence of chromosomal abnormalities was 18% in our cohort. X chromosome aneuploidy was the most frequent aberration. This finding confirms the essential role of X chromosome in ovarian function and underlies the importance of cytogenetic investigations in the routine management of POF. Copyright © 2014 Académie des sciences. Published by Elsevier SAS. All rights reserved.

  4. The premature necking of twinning-induced plasticity steels

    International Nuclear Information System (INIS)

    Yang, C.L.; Zhang, Z.J.; Zhang, P.; Zhang, Z.F.

    2017-01-01

    An unusual necking behavior was found in twinning-induced plasticity (TWIP) steels during tensile tests, which is quite different from that observed on most ductile metals. A sharp drop of the strain-hardening rate (Θ) arises before necking initiation, rather than after it, leading to the premature necking of TWIP steels. Through carefully examining the evolution of macroscopic defects at various tensile strains using three-dimensional X-ray tomography (3D-XRT), this premature necking behavior was attributed to the multiplication of macroscopic voids during plastic deformation. Combining with the previous theories and present characterizations on the evolution of macroscopic voids, the mechanism of the unusual necking behavior in TWIP steels was quantificationally revealed.

  5. 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.

  6. Retinopathy of prematurity - from recognition of risk factors to treatment recommendations.

    Science.gov (United States)

    Fagerholm, Reija; Vesti, Eija

    Retinopathy of prematurity is a proliferative retinal disorder diagnosed exclusively in prematurely born infants. In retinopathy of prematurity, growth of the retinal vasculature is disturbed, leading to hypoxia-induced pathological changes typical of retinopathy of prematurity, in the worst case resulting in retinal detachment. The most typical risk factors predisposing to the disease include hyperoxemia, low levels of insulin-like growth factor 1 (IGF-I), and low birth weight in relation to weeks of pregnancy. Laser therapy of peripheral retina is the currently established form of treatment. Screening is applied in order to recognize the pathological changes in retinopathy of prematurity early enough.

  7. Antenatal Bartter Syndrome: A Review

    Directory of Open Access Journals (Sweden)

    Y. Ramesh Bhat

    2012-01-01

    Full Text Available Antenatal Bartter syndrome (ABS is a rare autosomal recessive renal tubular disorder. The defective chloride transport in the loop of Henle leads to fetal polyuria resulting in severe hydramnios and premature delivery. Early onset, unexplained maternal polyhydramnios often challenges the treating obstetrician. Increasing polyhydramnios without apparent fetal or placental abnormalities should lead to the suspicion of this entity. Biochemical analysis of amniotic fluid is suggested as elevated chloride level is usually diagnostic. Awareness, early recognition, maternal treatment with indomethacin, and amniocentesis allow the pregnancy to continue. Affected neonates are usually born premature, have postnatal polyuria, vomiting, failure to thrive, hypercalciuria, and subsequently nephrocalcinosis. Hypokalemia, metabolic alkalosis, secondary hyperaldosteronism and hyperreninaemia are other characteristic features. Volume depletion due to excessive salt and water loss on long term stimulates renin-angiotensin-aldosterone system resulting in juxtaglomerular hyperplasia. Clinical features and electrolyte abnormalities may also depend on the subtype of the syndrome. Prenatal diagnosis and timely indomethacin administration prevent electrolyte imbalance, restitute normal growth, and improve activity. In this paper, authors present classification, pathophysiology, clinical manifestations, laboratory findings, complications, and prognosis of ABS.

  8. Antenatal Bartter Syndrome: A Review

    Science.gov (United States)

    Bhat, Y. Ramesh; Vinayaka, G.; Sreelakshmi, K.

    2012-01-01

    Antenatal Bartter syndrome (ABS) is a rare autosomal recessive renal tubular disorder. The defective chloride transport in the loop of Henle leads to fetal polyuria resulting in severe hydramnios and premature delivery. Early onset, unexplained maternal polyhydramnios often challenges the treating obstetrician. Increasing polyhydramnios without apparent fetal or placental abnormalities should lead to the suspicion of this entity. Biochemical analysis of amniotic fluid is suggested as elevated chloride level is usually diagnostic. Awareness, early recognition, maternal treatment with indomethacin, and amniocentesis allow the pregnancy to continue. Affected neonates are usually born premature, have postnatal polyuria, vomiting, failure to thrive, hypercalciuria, and subsequently nephrocalcinosis. Hypokalemia, metabolic alkalosis, secondary hyperaldosteronism and hyperreninaemia are other characteristic features. Volume depletion due to excessive salt and water loss on long term stimulates renin-angiotensin-aldosterone system resulting in juxtaglomerular hyperplasia. Clinical features and electrolyte abnormalities may also depend on the subtype of the syndrome. Prenatal diagnosis and timely indomethacin administration prevent electrolyte imbalance, restitute normal growth, and improve activity. In this paper, authors present classification, pathophysiology, clinical manifestations, laboratory findings, complications, and prognosis of ABS. PMID:22518185

  9. Cytogenetic Analysis of 65 Women with Premature Ovarian Insufficiency

    OpenAIRE

    Seda Ates

    2016-01-01

    Aim: Premature ovarian insufficiency (POI) is characterized as amenorrhea for more than 6 months, occurring before the age of 40, with an increased follicle-stimulating hormone and low estrogen concentrations. The aim of our study is to determine the types and distribution of cytogenetic abnormalities among women with POI. Material and Method: The study is based on the retrospective karyotype analysis of 65 women with idiopathic POI referred to the Medical Genetics Department at the Bezmialem...

  10. Ventriculosubgaleal shunts for posthemorrhagic hydrocephalus in premature infants.

    Science.gov (United States)

    Willis, Brian K; Kumar, Cherukuri Ravi; Wylen, Esther L; Nanda, Anil

    2005-01-01

    The early management of posthemorrhagic hydrocephalus in premature infants is challenging and controversial. These infants need a temporary cerebrospinal fluid (CSF) diversion procedure until they gain adequate weight, and the blood and protein levels in CSF are reasonably low before permanent shunt can be placed. Various options are available with their associated advantages and disadvantages. Ventriculosubgaleal shunts have been recommended as a more physiologic and less invasive means of achieving this goal. We have performed this procedure in 6 premature infants to evaluate their effectiveness and complications. Six consecutive premature infants with posthemorrhagic hydrocephalus underwent placement of ventriculosubgaleal shunts over a 1-year period of time. We reviewed their clinical and imaging progress to assess the ability of the shunt to control hydrocephalus and the complication rates. In all 6 patients, the ventriculosubgaleal shunt controlled the progression of hydrocephalus as assessed by clinical and imaging parameters. A permanent shunt was avoided in 1 patient (16.6%). However, 4 patients developed shunt infections, 1 involving the ventriculosubgaleal shunt itself, and 3 immediately after conversion to ventriculoperitoneal shunt. The total infection rate of the series was 66.6%. All infections were caused by staphylococcus species. There was only a 1% shunt infection rate in our institution for all nonventriculosubgaleal shunts during the same period of time. Placement of ventriculosubgaleal shunts for interim CSF diversion in neonates with posthemorrhagic hydrocephalus is effective as a temporary method of CSF diversion. However, our experience has shown that it is associated with a unacceptably high CSF infection rate. A potential cause for infection is CSF stasis just beneath the extremely thin skin of the premature infants, promoting colonization by skin flora. CSF sampling before conversion to a permanent shunt and replacement of the proximal

  11. 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. 

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

    DEFF Research Database (Denmark)

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

    2015-01-01

    significantly different from unity for people born premature or SGA. After correcting for multiple testing, 250 remained significant. The diagnoses covered diseases in most organ systems, including cardiovascular, endocrinological, infectious, neurological/neurosurgical, obstetric, orthopedic, psychiatric, lung...... & urological diseases, and occurred throughout childhood and early adulthood. Novel findings included increased risks for delayed puberty, neurofibromatosis type 1 and ileus and decreased risks of mononucleosis, peritonsillar abscesses, chronic hypothyroidism and several types of fractures and contusions later...

  13. Behavioral Therapies for Management of Premature Ejaculation: A Systematic Review

    Directory of Open Access Journals (Sweden)

    Katy Cooper, PhD

    2015-09-01

    Conclusions: There is limited evidence that physical behavioral techniques for PE improve IELT and other outcomes over waitlist and that behavioral therapies combined with drug treatments give better outcomes than drug treatments alone. Further RCTs are required to assess psychotherapeutic approaches to PE. Cooper K, Martyn‐St James M, Kaltenthaler E, Dickinson K, Cantrell A, Wylie K, Frodsham L, and Hood C. Behavioral therapies for management of premature ejaculation: A systematic review. Sex Med 2015;3:174–188.

  14. The relationship between pregnancy, preterm and premature delivery

    OpenAIRE

    Soleymani-e- Shayesteh Y; Kamali-Nia Z

    2002-01-01

    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, shou...

  15. Childhood obesity, other cardiovascular risk factors, and premature death.

    Science.gov (United States)

    Franks, Paul W; Hanson, Robert L; Knowler, William C; Sievers, Maurice L; Bennett, Peter H; Looker, Helen C

    2010-02-11

    The effect of childhood risk factors for cardiovascular disease on adult mortality is poorly understood. In a cohort of 4857 American Indian children without diabetes (mean age, 11.3 years; 12,659 examinations) who were born between 1945 and 1984, we assessed whether body-mass index (BMI), glucose tolerance, and blood pressure and cholesterol levels predicted premature death. Risk factors were standardized according to sex and age. Proportional-hazards models were used to assess whether each risk factor was associated with time to death occurring before 55 years of age. Models were adjusted for baseline age, sex, birth cohort, and Pima or Tohono O'odham Indian heritage. There were 166 deaths from endogenous causes (3.4% of the cohort) during a median follow-up period of 23.9 years. Rates of death from endogenous causes among children in the highest quartile of BMI were more than double those among children in the lowest BMI quartile (incidence-rate ratio, 2.30; 95% confidence interval [CI], 1.46 to 3.62). Rates of death from endogenous causes among children in the highest quartile of glucose intolerance were 73% higher than those among children in the lowest quartile (incidence-rate ratio, 1.73; 95% CI, 1.09 to 2.74). No significant associations were seen between rates of death from endogenous or external causes and childhood cholesterol levels or systolic or diastolic blood-pressure levels on a continuous scale, although childhood hypertension was significantly associated with premature death from endogenous causes (incidence-rate ratio, 1.57; 95% CI, 1.10 to 2.24). Obesity, glucose intolerance, and hypertension in childhood were strongly associated with increased rates of premature death from endogenous causes in this population. In contrast, childhood hypercholesterolemia was not a major predictor of premature death from endogenous causes. 2010 Massachusetts Medical Society

  16. Effect of transient flow on premature dryout in tube

    International Nuclear Information System (INIS)

    Ishigai, S.; Nakanishi, S.; Yamauchi, S.; Masuda, T.

    1974-01-01

    The influence of abrupt flow change on the critical heat flux in the high quality steam-water two-phase flow was studied mainly by experiments. The measured reduction in the critical heat flux is compared with the result of a simplified analysis based on the kinematic wave theory and the film vanishing hypothesis. It is concluded that the reduction is due to ''premature dryout'' caused by the deceleration of the liquid film. (U.S.)

  17. Impact of physiotherapy on neuromotor development of premature newborns

    OpenAIRE

    Coutinho, Giselle Athayde Xavier; Lemos, Daniela de Mattos; Caldeira, Antônio Prates

    2014-01-01

    Introduction The population of children born prematurely has increased in line with improving the quality of perinatal care. It is essential to ensure to these children a healthy development. Objective We evaluate the neuromotor development of a group of preterm infants regularly assisted by a physiotherapy service in comparison to full-term newborns, checking, so the impact of the service. Materials and methods We randomly assigned preterm and full-term infants that formed two distinct group...

  18. Premature epiphyseal fusion and extramedullary hematopoiesis in thalassemia

    International Nuclear Information System (INIS)

    Colavita, N.; Orazi, C.; Danza, S.M.; Falappa, P.G.; Fabbri, R.

    1987-01-01

    The main skeletal abnormalities in β-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 β-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. (orig.)

  19. [Prognostic factors for laser treatment in retinopathy of prematurity].

    Science.gov (United States)

    Talu, Simona; Cormos, Diana; Zaharia, Gabriela; Stefanut, Claudia; Popa, Monica; Lucaci, Daiana Ioana

    2011-01-01

    The paper aims to determine the anatomical results of the eyes treated by laser photocoagulation for "threshold" retinopathy of prematurity (ROP) and to identify the potential risk factors for the unfavorable outcomes. A retrospective study including all the consecutive ROPs that were treated by laser photocoagulation between January the 1st 2006 and September the 1st 2009 has been conducted. The followed criteria has been the anatomical result after the laser treatment. The outcomes have been correlated with: the gestational ages, the birth weights, the moment of treatment (postnatal and post-conceptional ages), the sex of the premature infants, the stage and zone of ROR. RESULTS The total number of prematurely newborns that met the screening criteria for ROP in the above-mentioned period has been 474. Of these, 350 (74%) presented no ROP and the remaining 124 (26%) developed various stages of the disease. Within the ROP group, 54 patients required laser therapy (44% of the retinopathies, representing 11% of all the prematures). The anatomical outcome has been favorable in 84% of the treated eyes, the remaining 16% presenting the progression of ROP The results of the treatment depended on the type of ROP, being significantly better in the classic disease as in the agressive posterior disease (APD) (p < 0.05). The gender also influenced the outcome: the results were better in girls as compared with boys (p < 0.05). The precocity of the laser treatment (evaluated by the postnatal and postconceptional age) has positively influenced the ROP evolution (p < 0.05). Laser photocoagulation has proved its efficacy in the treatment of ROP on our cases. The factors that have negatively influenced the postlaser outcome were: the aggressive posterior disease, the delayed moment of the laser therapy and the male gender.

  20. Duration of continuous positive airway pressure in premature infants

    Science.gov (United States)

    Bamat, Nicolas; Jensen, Erik A.; Kirpalani, Haresh

    2016-01-01

    SUMMARY Continuous positive airway pressure (CPAP) has been used for respiratory support in premature infants for more than 40 years and is now a cornerstone of modern neonatal care. Clinical research on CPAP has primarily focused on understanding which devices and pressure sources best implement this therapy. In contrast, less research has examined the optimal duration over which CPAP is administered. We review this aspect of CPAP therapy. PMID:26948885

  1. Duration of continuous positive airway pressure in premature infants

    OpenAIRE

    Bamat, Nicolas; Jensen, Erik A.; Kirpalani, Haresh

    2016-01-01

    Continuous positive airway pressure (CPAP) has been used for respiratory support in premature infants for more than 40 years and is now a cornerstone of modern neonatal care. Clinical research on CPAP has primarily focused on understanding which devices and pressure sources best implement this therapy. In contrast, less research has examined the optimal duration over which CPAP is administered. We review this aspect of CPAP therapy.

  2. 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.

  3. Validation of the Colorado Retinopathy of Prematurity Screening Model.

    Science.gov (United States)

    McCourt, Emily A; Ying, Gui-Shuang; Lynch, Anne M; Palestine, Alan G; Wagner, Brandie D; Wymore, Erica; Tomlinson, Lauren A; Binenbaum, Gil

    2018-04-01

    The Colorado Retinopathy of Prematurity (CO-ROP) model uses birth weight, gestational age, and weight gain at the first month of life (WG-28) to predict risk of severe retinopathy of prematurity (ROP). In previous validation studies, the model performed very well, predicting virtually all cases of severe ROP and potentially reducing the number of infants who need ROP examinations, warranting validation in a larger, more diverse population. To validate the performance of the CO-ROP model in a large multicenter cohort. This study is a secondary analysis of data from the Postnatal Growth and Retinopathy of Prematurity (G-ROP) Study, a retrospective multicenter cohort study conducted in 29 hospitals in the United States and Canada between January 2006 and June 2012 of 6351 premature infants who received ROP examinations. Sensitivity and specificity for severe (early treatment of ROP [ETROP] type 1 or 2) ROP, and reduction in infants receiving examinations. The CO-ROP model was applied to the infants in the G-ROP data set with all 3 data points (infants would have received examinations if they met all 3 criteria: birth weight, large validation cohort. The model requires all 3 criteria to be met to signal a need for examinations, but some infants with a birth weight or gestational age above the thresholds developed severe ROP. Most of these infants who were not detected by the CO-ROP model had obvious deviation in expected weight trajectories or nonphysiologic weight gain. These findings suggest that the CO-ROP model needs to be revised before considering implementation into clinical practice.

  4. Placental telomere shortening in stillbirth: a sign of premature senescence?

    Science.gov (United States)

    Ferrari, Francesca; Facchinetti, Fabio; Saade, George; Menon, Ramkumar

    2016-01-01

    The objective of this study is to investigate placental telomere shortening in unexplained stillbirths (SBs) as an indication of premature senescence. Placentas were collected from 42 unexplained SB (>22 weeks), 43 term and 15 preterm live births, at the Policlinico Hospital of Modena (Italy). DNA extracted from placentae was studied for telomere length by real time PCR. Standard curves were generated for telomere lengths from single copy gene amplifications using a reference DNA. The telomere length for each sample was derived based on the ratio of telomere length between the sample and single copy gene standard (T/S ratio). The mean ratio of placental telomere in term live births was 5.181 ± 3.841. A twofold decrease in telomere length was seen in SBs (over all 2.455 ± 1.239; p PTBs) (6.382 ± 5.525; p < 0.01), whereas SBs telomere length were similar to those of preterm premature rupture of membranes (pPROM) (3.296 ± 3.599; p = ns). Substantial reduction in telomere length in SBs is indicative of placental senescence. These data provide mechanistic insights that premature aging may lead to placental dysfunction as an initiator of fetal demise in unexplained SBs.

  5. Changes in family functions in patients with secondary premature ejaculation

    Directory of Open Access Journals (Sweden)

    Mustafa Arı

    2011-06-01

    Full Text Available We aimed to inverstigate changes in family functions in patients with premature ejaculation.Materials and methods: In the present study, study group were randomly selected from Mustafa Kemal University Medical School Research and Training Hospital Urology Department outpatients clinic. Control group were selected among healthy volunteers. Totally 30 patients were included in the PE group and 30 healthy volunteers were included in the control group. Subjects were examined by the same psychiatrist. Beck Anxiety Inventory and Family Assessment Scale were applied to both groupsResults: Compared with the control group, premature ejaculation patients had significantly higher anxiety scores (p=0.001 and more deterioration in problem solving (p=0.001, communication (p=0.022, affective responsiveness (p=0.011, behavior control (p=0.032, and affective involvement in their families (p=0.011. There were no difference in terms of roles and general functions scores (p>0.05.Conclusion: It can be concluded that there is deterioration in family functions in patients with premature ejaculation, Therefore, approaches targeting family functions may be beneficial in the treatment of these patients.

  6. 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.

  7. 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

  8. Predicting healthcare outcomes in prematurely born infants using cluster analysis.

    Science.gov (United States)

    MacBean, Victoria; Lunt, Alan; Drysdale, Simon B; Yarzi, Muska N; Rafferty, Gerrard F; Greenough, Anne

    2018-05-23

    Prematurely born infants are at high risk of respiratory morbidity following neonatal unit discharge, though prediction of outcomes is challenging. We have tested the hypothesis that cluster analysis would identify discrete groups of prematurely born infants with differing respiratory outcomes during infancy. A total of 168 infants (median (IQR) gestational age 33 (31-34) weeks) were recruited in the neonatal period from consecutive births in a tertiary neonatal unit. The baseline characteristics of the infants were used to classify them into hierarchical agglomerative clusters. Rates of viral lower respiratory tract infections (LRTIs) were recorded for 151 infants in the first year after birth. Infants could be classified according to birth weight and duration of neonatal invasive mechanical ventilation (MV) into three clusters. Cluster one (MV ≤5 days) had few LRTIs. Clusters two and three (both MV ≥6 days, but BW ≥or <882 g respectively), had significantly higher LRTI rates. Cluster two had a higher proportion of infants experiencing respiratory syncytial virus LRTIs (P = 0.01) and cluster three a higher proportion of rhinovirus LRTIs (P < 0.001) CONCLUSIONS: Readily available clinical data allowed classification of prematurely born infants into one of three distinct groups with differing subsequent respiratory morbidity in infancy. © 2018 Wiley Periodicals, Inc.

  9. 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.

  10. Premature ovarian failure risk factors in an Iranian population

    Directory of Open Access Journals (Sweden)

    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

  11. The relation between oxygen saturation level and retionopathy of prematurity

    Directory of Open Access Journals (Sweden)

    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 (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.

  13. Extracorporeal Membrane Oxygenation in Premature Infants With Congenital Diaphragmatic Hernia.

    Science.gov (United States)

    Cuevas Guamán, Milenka; Akinkuotu, Adesola C; Cruz, Stephanie M; Griffiths, Pamela A; Welty, Stephen E; Lee, Timothy C; Olutoye, Oluyinka O

    2017-11-14

    Prematurity and low birth weight have been exclusion criteria for extracorporeal membrane oxygenation (ECMO); however, these criteria are not evidence based. With advances in anticoagulation, improved technology, and surgical expertise, it is difficult to deny a potential therapy based on these criteria alone. We report the outcome of three neonates who were ineligible based on traditional criteria but were offered ECMO as a life-saving measure. We highlight the interdisciplinary nature of modern decision-making. All three neonates had severe congenital diaphragmatic hernia diagnosed prenatally, had normal fetal karyotypes, were born prematurely, and weighed less than 2 kg. All three neonates underwent cervical venoarterial cannulation, stabilization on ECMO, and repair of their congenital diaphragmatic hernia early in their ECMO courses. All three infants had long courses of respiratory support attributable to lung hypoplasia, but there were no short- or long-term complications attributable to ECMO support directly. All three are alive at 2 years of age and were making progress developmentally. In conclusion, with interdisciplinary collaboration and clinical guidelines uniformly implemented, low birth weight infants may benefit from ECMO and should not be denied the therapy arbitrarily based on gestational age or size alone. Further research is essential to determine appropriate patient selection in premature infants.

  14. 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.

  15. Cardiovascular consequences of extreme prematurity: the EPICure study.

    Science.gov (United States)

    McEniery, Carmel M; Bolton, Charlotte E; Fawke, Joseph; Hennessy, Enid; Stocks, Janet; Wilkinson, Ian B; Cockcroft, John R; Marlow, Neil

    2011-07-01

    The long-term consequences of extreme prematurity are becoming increasingly important, given recent improvements in neonatal intensive care. The aim of the current study was to examine the cardiovascular consequences of extreme prematurity in 11-year-olds born at or before 25 completed weeks of gestation. Age and sex-matched classmates were recruited as controls. Information concerning perinatal and maternal history was collected, and current anthropometric characteristics were measured in 219 children born extremely preterm and 153 classmates. A subset of the extremely preterm children (n = 68) and classmates (n = 90) then underwent detailed haemodynamic investigations, including measurement of supine blood pressure (BP), aortic pulse wave velocity (aPWV, a measure of aortic stiffness) and augmentation index (AIx, a measure of arterial pressure wave reflections). Seated brachial systolic and diastolic BP were not different between extremely preterm children and classmates (P = 0.3 for both), although there was a small, significant elevation in supine mean and diastolic BP in the extremely preterm children (P prematurity is associated with altered arterial haemodynamics in children, not evident from the examination of brachial BP alone. Moreover, the smaller, preresistance and resistance vessels rather than large elastic arteries appear to be most affected. Children born extremely preterm may be at increased future cardiovascular risk.

  16. 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.

  17. MICROBIOLOGICAL STUDY ON ENDOCERVIX IN PRETERM PREMATURE RUPTURE OF MEMBRANE

    Directory of Open Access Journals (Sweden)

    Elizebeth V. Issac

    2017-10-01

    Full Text Available BACKGROUND Preterm premature rupture of membrane (PPROM is defined as premature rupture of membrane before 37 completed weeks. It is associated with 40% preterm deliveries and results in significant perinatal mortality and morbidity. Present study is an attempt to find the association between infection and PPROM. MATERIALS AND METHODS 100 pregnant women between 29 weeks and 34 weeks of gestation who were admitted in our labour room during a period from November 2012 to November 2013 were included. Preterm Premature Rupture of Membrane (PPROM is confirmed by history, sterile per speculum examination demonstrating pooling of fluid in posterior vaginal fornix and vaginal pH. An ultrasound examination showing oligohydramnios also supports the diagnosis. RESULTS 62% of neonates had RDS; p value <0.001, strong significance. 16% had no morbidity. 10% had late sepsis. 6% had NHB; p value 0.090, moderate significance. 6% had PHTN. CONCLUSION Relation between infection and PPROM remains an association. So patients at risk for preterm delivery need to be watched more closely for infection as it is also associated with neonatal morbidity.

  18. [Development and evaluation of an e-learning program for mothers of premature infants].

    Science.gov (United States)

    Lee, Nae-Young; Kim, Young-Hae

    2008-02-01

    It has been attempted to support mother of premature infants by providing information of premature infant care using e-learning because premature infants need continuous care from birth to after discharge. The e-Learning Program for mother of premature was developed with Xpert, Namo web editor, Adobe Photoshop, and PowerPoint and applied for 4 weeks from 4 to 30 September 2006. 1) We found that the contents of information which premature infants' need when being in the hospital and after discharge were the definition of a premature infant, orientation of NICU, care of premature infants, care of premature infants' common diseases, the connection of healthcare resources, exchange of information, and the management of rearing stress. 2) The program content consisted of cause of premature birth, comparison to full-term baby, physiology character, orientation of NICU, common health problems, follow up care, infection control, feeding, normal development physically and mentally, weaning method, and vaccination. Considering the results, this program for mother of premature is a useful means to provide premature-care information to mothers. This information can be readily accessible and can be varied and complex enough to be able to help mothers to the information and assistance they require.

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

    Science.gov (United States)

    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

    2014-06-01

    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 (PTBs, and term births. Term fetal membranes were exposed to cigarette smoke extract to induce oxidative stress. Western blots documented p-p53 and p-p38 MAPK. Transmission electron microscopy assessed cellular morphologic features in clinical and cigarette smoke extract-treated membranes. A total of 80% of pPROM cells and >60% of term cells were positive for all three senescence phenotype markers, and concentrations were higher than in PTBs (P PTBs. Histologic and biochemical resemblance of pPROM and term membranes suggests premature senescence of the membranes is a mechanistic feature in pPROM, and this can be phenocopied in an in vitro model. Copyright © 2014 American Society for Investigative Pathology. Published by Elsevier Inc. All rights reserved.

  20. Pregnancy and Antiphospholipid Syndrome

    DEFF Research Database (Denmark)

    Schreiber, Karen; Hunt, Beverley J

    2016-01-01

    Antiphospholipid syndrome (APS) is classified as the association of thrombotic events and/or obstetric morbidity in patients persistently positive for antiphospholipid antibodies (aPL). APS is also the most frequently acquired risk factor for a treatable cause of recurrent pregnancy loss and incr......Antiphospholipid syndrome (APS) is classified as the association of thrombotic events and/or obstetric morbidity in patients persistently positive for antiphospholipid antibodies (aPL). APS is also the most frequently acquired risk factor for a treatable cause of recurrent pregnancy loss...... and increases the risk of conditions associated with ischemic placental dysfunction, such as stillbirth, intrauterine death, preeclampsia, premature birth, and fetal growth restriction. The use of low-dose aspirin and heparin has improved the pregnancy outcome in obstetric APS and approximately 70% of pregnant...... women with APS will deliver a viable live infant. However, current management does not prevent all maternal, fetal, and neonatal complications of APS and the current treatment fails in 20 to 30% of APS pregnancies, raising the need to explore other treatments to improve obstetrical outcome. Two clinical...

  1. SOME OF THE RISK FACTORS FOR RETINOPATHY OF PREMATURITY

    Directory of Open Access Journals (Sweden)

    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

  2. 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

  3. 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

  4. Influence of the blood glucose level on the development of retinopathy of prematurity in extremely premature children.

    Science.gov (United States)

    Nicolaeva, Galina V; Sidorenko, Evgenyj I; Iosifovna, Amkhanitskaya Lyubov

    2015-01-01

    To investigate the influence of the blood glucose level on the development of retinopathy of prematurity (ROP) in extremely premature infants. Sixty-four premature infants with a gestational age of less than 30 weeks and a birth weight of less than 1500 g were included in the study. Children without ROP were allocated to Group 1 (n=14, gestational age 28.6 ± 1.4 weeks, birth weight 1162 ± 322 g), and children with spontaneous regression of ROP were allocated to Group 2 (n=32, gestational age 26.5 ± 1.2 weeks, birth weight 905 ± 224 g). Children with progressive ROP who underwent laser treatment were included in Group 3 (n=18, gestational age 25.4 ± 0.7 weeks, birth weight 763 ± 138 g). The glucose level in the capillary blood of the premature infants was monitored daily during the first 3 weeks of life. A complete ophthalmological screening was performed from the age of 1 month. The nonparametric signed-rank Wilcoxon-Mann-Whitney test was used for statistical analysis. The mean blood glucose level was 7.43 ± 2.6 mmol/L in Group 1, 7.8 ± 2.7 mmol/L in Group 2, and 6.7 ± 2.6 mmol/L in Group 3. There were no significant differences in the blood glucose levels between children with and without ROP, and also between children with spontaneously regressing ROP and progressive ROP (p>0.05). Additionally, there were no significant differences in the blood glucose levels measured at the first, second, and third weeks of life (p>0.05). The blood glucose level is not related to the development of ROP nor with its progression or regression. The glycemic level cannot be considered as a risk factor for ROP, but reflects the severity of newborns' somatic condition and morphofunctional immaturity.

  5. System of the ophthalmologic help premature children with retinopathy of prematurity in the Central region of Russia

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    A. V. Tereshchenko

    2014-07-01

    Full Text Available Purpose: Functional results analysis of ophthalmologic help system for premature infants, which includes the full cycle of early revelation, treatment and regular medical check-up activities for patients with ROP in Central region of Russia.Methods: Fields for ROP screening were performed in premature infants medical care units by clinic specialists. Infants with re- vealed ROP were directed to Kaluga Branch of IRtC «Eye Microsurgery» for detailed diagnostic examination and subsequent treatment and monitoring.Results: In 2003-2011 454 fields in Kaluga, tula, Bryansk, and Orel regions were made. 8861 infants were examined. ROP was found in 1834 infants (20.7%. 823 different interventions for infants with active ROP were performed: 737 retinal lasercoagulations, 3-ports vitrectomy — 72, lensvitrectomy — 14. the total efficacy of the treatment was 92.9%.Conclusion: the ophthalmologic help system for premature infants in Central region of Russia combines all directions from de-tailed diagnostic to hich-technology treatment. It allows to reproduce one all over the Russian Federation territory.

  6. System of the ophthalmologic help premature children with retinopathy of prematurity in the Central region of Russia

    Directory of Open Access Journals (Sweden)

    A. V. Tereshchenko

    2012-01-01

    Full Text Available Purpose: Functional results analysis of ophthalmologic help system for premature infants, which includes the full cycle of early revelation, treatment and regular medical check-up activities for patients with ROP in Central region of Russia.Methods: Fields for ROP screening were performed in premature infants medical care units by clinic specialists. Infants with re- vealed ROP were directed to Kaluga Branch of IRtC «Eye Microsurgery» for detailed diagnostic examination and subsequent treatment and monitoring.Results: In 2003-2011 454 fields in Kaluga, tula, Bryansk, and Orel regions were made. 8861 infants were examined. ROP was found in 1834 infants (20.7%. 823 different interventions for infants with active ROP were performed: 737 retinal lasercoagulations, 3-ports vitrectomy — 72, lensvitrectomy — 14. the total efficacy of the treatment was 92.9%.Conclusion: the ophthalmologic help system for premature infants in Central region of Russia combines all directions from de-tailed diagnostic to hich-technology treatment. It allows to reproduce one all over the Russian Federation territory.

  7. Cushing's Syndrome

    Science.gov (United States)

    Cushing's syndrome is a hormonal disorder. The cause is long-term exposure to too much cortisol, a hormone that ... your body to make too much cortisol. Cushing's syndrome is rare. Some symptoms are Upper body obesity ...

  8. Usher Syndrome

    Science.gov (United States)

    Usher syndrome is an inherited disease that causes serious hearing loss and retinitis pigmentosa, an eye disorder that causes ... and vision. There are three types of Usher syndrome: People with type I are deaf from birth ...

  9. Metabolic Syndrome

    Science.gov (United States)

    Metabolic syndrome is a group of conditions that put you at risk for heart disease and diabetes. These conditions ... agree on the definition or cause of metabolic syndrome. The cause might be insulin resistance. Insulin is ...

  10. Reye Syndrome

    Science.gov (United States)

    Reye syndrome is a rare illness that can affect the blood, liver, and brain of someone who has recently ... a viral illness, seek medical attention immediately. Reye syndrome can lead to a coma and brain death, ...

  11. Rett Syndrome

    Science.gov (United States)

    Rett syndrome is a rare genetic disease that causes developmental and nervous system problems, mostly in girls. It's related to autism spectrum disorder. Babies with Rett syndrome seem to grow and develop normally at first. ...

  12. Caplan syndrome

    Science.gov (United States)

    ... enable JavaScript. Rheumatoid pneumoconiosis (RP; also known as Caplan syndrome) is swelling (inflammation) and scarring of the ... avoid exposure to inorganic dust. Alternative Names RP; Caplan syndrome; Pneumoconiosis - rheumatoid; Silicosis - rheumatoid pneumoconiosis; Coal worker's ...

  13. Turner Syndrome

    Science.gov (United States)

    Turner syndrome is a genetic disorder that affects a girl's development. The cause is a missing or incomplete ... t work properly. Other physical features typical of Turner syndrome are Short, "webbed" neck with folds of skin ...

  14. Gardner's syndrome

    International Nuclear Information System (INIS)

    Sobrado Junior, C.W.; Bresser, A.; Cerri, G.G.; Habr-Gama, A.; Pinotti, H.W.; Magalhaes, A.

    1988-01-01

    A case of familiar poliposis of colon related to a right mandibular osteoma is reported (this association is usually called Gardner's syndrome). Radiologic pictures ae shown and some commentaries about this syndrome concerning the treatment are made. (author) [pt

  15. Sotos Syndrome

    Science.gov (United States)

    ... Clinical Trials Organizations Publications Definition Sotos syndrome (cerebral gigantism) is a rare genetic disorder caused by mutation ... have also been reported. × Definition Sotos syndrome (cerebral gigantism) is a rare genetic disorder caused by mutation ...

  16. Felty syndrome

    Science.gov (United States)

    Seropositive rheumatoid arthritis (RA); Felty's syndrome ... The cause of Felty syndrome is unknown. It is more common in people who have had rheumatoid arthritis (RA) for a long time. People with ...

  17. Bartter syndrome

    Science.gov (United States)

    ... this page: //medlineplus.gov/ency/article/000308.htm Bartter syndrome To use the sharing features on this page, please enable JavaScript. Bartter syndrome is a group of rare conditions that affect ...

  18. Pendred Syndrome

    Science.gov (United States)

    ... other possible long-term consequences of the syndrome. Children with Pendred syndrome should start early treatment to gain communication skills, such as learning sign language or cued speech or learning to ...

  19. Dravet Syndrome

    Science.gov (United States)

    ... and supports a broad program of basic and clinical research on all types of epilepsy, including Dravet syndrome. Study of the genetic defects responsible for Dravet syndrome and related ... Publications Definition Dravet ...

  20. Virilization (Adrenogenital Syndrome)

    Science.gov (United States)

    ... untreated, the growth plates may close prematurely and short stature may result. Affected boys may experience premature sexual ... may do computed tomography (CT) or magnetic resonance imaging (MRI) to obtain a view of the adrenal ...

  1. Maternal Iron Deficiency Anemia as a Risk Factor for the Development of Retinopathy of Prematurity.

    Science.gov (United States)

    Dai, Alper I; Demiryürek, Seniz; Aksoy, Sefika Nur; Perk, Peren; Saygili, Oguzhan; Güngör, Kivanc

    2015-08-01

    Retinopathy of prematurity is a proliferative vascular disease affecting premature newborns and occurs during vessel development and maturation. The aim of this study was to evaluate the maternal iron deficiency anemia as possible risk factors associated with the development of retinopathy of prematurity among premature or very low birth weight infants. In this study, mothers of 254 infants with retinopathy of prematurity were analyzed retrospectively, and their laboratory results of medical records during pregnancy were reviewed for possible iron deficiency anemia. In a cohort of 254 mothers of premature infants with retinopathy of prematurity, 187 (73.6%) had iron deficiency, while the remaining 67 (26.4%) mothers had no deficiency. Babies born to mothers with iron deficiency anemia with markedly decreased hemoglobin, hematocrit, mean corpuscular volume, serum iron, and ferritin levels were more likely to develop retinopathy of prematurity. Our results are the first to suggest that maternal iron deficiency is a risk factor for the development of retinopathy of prematurity. Our data suggest that maternal iron supplementation therapy during pregnancy might lower the risk of retinopathy of prematurity. Copyright © 2015 Elsevier Inc. All rights reserved.

  2. LH Dynamics in Overweight Girls with Premature Adrenarche and Slowly Progressive Sexual Precocity

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    Rosenfield RobertL

    2010-08-01

    Full Text Available Background. Excess adiposity and premature adrenarche (PA are risk factors for the development of polycystic ovary syndrome (PCOS. Methods. Girls with slowly progressive precocious breast development, who were overweight and had PA (SPPOPA, 6.2–8.2 years, , overweight PA (6.6–10.8 years, , and overweight premenarcheal controls (OW-PUB, 10.6–12.8 years, underwent hormonal sleep testing and GnRH agonist (GnRHag and ACTH tests. Results. Despite an insignificant sleep-related increase in LH and prepubertal baseline hormone levels, SPPOPA peak LH and estradiol responses to GnRHag were intermediate between those of PA and OW-PUB, the LH being significantly different from both. Conclusions. GnRHag tests indicate that SPPOPA is a slowly progressive form of true puberty with blunted LH dynamics. These results argue against the prepubertal hyperandrogenism of excess adiposity or PA enhancing LH secretion or causing ovarian hyperandrogenism prior to menarche. Excess adiposity may contribute to both the early onset and slow progression of puberty.

  3. Prevalence of Nonclassic Congenital Adrenal Hyperplasia in Turkish Children Presenting with Premature Pubarche, Hirsutism, or Oligomenorrhoea

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    Cigdem Binay

    2014-01-01

    Full Text Available Background. Nonclassic congenital adrenal hyperplasia (NCAH, caused by mutations in the gene encoding 21-hydroxylase, is a common autosomal recessive disorder. In the present work, our aim was to determine the prevalence of NCAH presenting as premature pubarche (PP, hirsutism, or polycystic ovarian syndrome (PCOS and to evaluate the molecular spectrum of CYP21A2 mutations in NCAH patients. Methods. A total of 126 patients (122 females, 4 males with PP, hirsutism, or PCOS were included in the present study. All patients underwent an ACTH stimulation test. NCAH was considered to be present when the stimulated 17-hydroxyprogesterone plasma level was >10 ng/mL. Results. Seventy-one of the 126 patients (56% presented with PP, 29 (23% with PCOS, and 26 (21% with hirsutism. Six patients (4,7% were diagnosed with NCAH based on mutational analysis. Four different mutations (Q318X, P30L, V281L, and P453S were found in six NCAH patients. One patient with NCAH was a compound heterozygote for this mutation, and five were heterozygous. Conclusion. NCAH should be considered as a differential diagnosis in patients presenting with PP, hirsutism, and PCOS, especially in countries in which consanguineous marriages are prevalent.

  4. [Extracorporeal gas exchange--an alternative to ventilation of the premature newborn infant with respiratory insufficiency].

    Science.gov (United States)

    Schmidt, S; Dudenhausen, J W; Langner, K; Laiblin, C; Saling, E

    1984-01-01

    In spite of improvements in its prophylaxis and therapy the membrane syndrome is still one of the main causes of morbidity and mortality in newborns. In many perinatal centers in the United States extracorporeal gas exchange via an artificial lung is the ultimate step in therapy for this group of patients today. As a result of our own research work we are able to introduce an extracorporeal circulation system which is especially suited to the particular situation of the immature newborn and which enables a complete immobilization of the lung to avoid baro-trauma with alveolar oxygen diffusion and CO2-removal through the membrane lung. Using appropriate dimensions the system can be housed in a newborn incubator. With low total resistance the perfusion in the newborn is performed via an arterio-venous shunt of the umbilical vessels alternatively with and without a mechanical pump. We tested this perfusion system on premature lambs with a gestational age of 128 to 130 days. During a test period of from 6 to 8 hours at a low blood flow rate (200 ml/min) we achieved a sufficient CO2-removal via the membrane lung with enough oxygen supply through the non-ventilated lung. By means of suitable materials, and using CO2 gas priming procedure and employing prostacyclin analogons to inhibit thrombocyte aggregation, it was possible to lower the heparine dosage to a minimum.

  5. Amniopatch treatment for spontaneous previable, preterm premature rupture of membranes associated or not with incompetent cervix.

    Science.gov (United States)

    Kwak, Hye-Min; Choi, Hyun-Jin; Cha, Hyun-Hwa; Yu, Hee-Jun; Lee, Jee-Hun; Choi, Suk-Joo; Oh, Soo-Young; Roh, Cheong-Rae; Kim, Jong-Hwa

    2013-01-01

    We reviewed women with previable spontaneous premature rupture of membranes (sPPROM) in whom an amniopatch was performed and compared their pregnancy outcomes with a conservative management group. Amniopatch, an amnioinfusion of autologous platelet concentrate followed by cryoprecipitate, was performed in 7 women with sPPROM diagnosed at 17-23 weeks' gestation, including one twin pregnancy. Three patients had incompetent cervices and the other 4 patients had sPPROM without incompetent cervices. Pregnancy outcomes of the cases were compared with the controls who were managed conservatively (n = 22). Amniopatch treatment was successful in 1 of 7 cases (14.3%), in which the ruptured membranes were completely sealed and the patient delivered a healthy baby at 39 weeks' gestation. No procedure-related complications were observed. Overall, neonatal outcome was similar in the amniopatch and conservatively managed groups, although the incidences of early neonatal sepsis and respiratory distress syndrome were lower in the amniopatch group. The overall success rate of amniopatch among our small number of cases was low. However, if successful, amniopatch may prolong a pregnancy with previable sPPROM to term. Copyright © 2012 S. Karger AG, Basel.

  6. Conservative management of preterm premature rupture of membranes beyond 32 weeks' gestation: is it worthwhile?

    Science.gov (United States)

    Tsafrir, Z; Margolis, G; Cohen, Y; Cohen, A; Laskov, I; Levin, I; Mandel, D; Many, A

    2015-01-01

    We aimed to investigate whether conservative management of preterm premature rupture of membranes (PPROM) at 32-34 weeks' gestation improves outcome. In this retrospective analysis of singleton pregnancies, the study group included patients with PPROM at 28-34 weeks' gestation and the control group included patients presented with spontaneous preterm delivery at 28-34 weeks' gestation. Both groups were subdivided according to gestational age - early (28-31 weeks' gestation) versus late (32-34 weeks' gestation). Adverse neonatal outcome included neonatal death, intraventricular haemorrhage grade 3/4, respiratory distress syndrome, periventricular leucomalacia and neonatal sepsis. The study and control groups included 94 and 86 women, respectively. The study group had a lower incidence of adverse neonatal outcome at the earlier weeks (28-31), compared with the control group at the same gestational age. In contrast, at 32-34 weeks' gestation no difference in the risk for adverse neonatal outcome was noticed. Additionally, within the study group, chorioamnionitis rate was significantly higher among those who delivered at 32-34 weeks' gestation (p < 0.01). No advantage for conservative management of PPROM was demonstrated beyond 31 weeks' gestation. Moreover, conservative management of PPROM at 32-34 weeks' gestation may expose both mother and neonate to infectious morbidity.

  7. Down Syndrome

    Science.gov (United States)

    ... Down syndrome increases as a woman gets older. Down syndrome cannot be cured. Early treatment programs can help improve skills. They may include ... occupational, and/or educational therapy. With support and treatment, many ... Down syndrome live happy, productive lives. NIH: National Institute of ...

  8. Rowell syndrome

    Directory of Open Access Journals (Sweden)

    Ramesh Y Bhat

    2014-01-01

    Full Text Available Rowell syndrome is a rare disease consisting of erythema multiforme-like lesions associated with lupus erythematosus. The syndrome occurs mostly in middle-aged women. The authors describe the syndrome in a 15-year-old boy who responded well to systemic steroids and hydroxychloroquine.

  9. Aicardi Syndrome

    Science.gov (United States)

    ... from Aicardi-Goutieres syndrome, which is an inherited encephalopathy that affects newborn infants.) × Definition Aicardi syndrome is a rare genetic ... from Aicardi-Goutieres syndrome, which is an inherited encephalopathy that affects newborn infants.) View Full Definition Treatment There is no ...

  10. Sex hormone replacement in Turner syndrome

    DEFF Research Database (Denmark)

    Trolle, Christian; Hjerrild, Britta; Cleemann, Line Hartvig

    2012-01-01

    The cardinal features of Turner syndrome (TS) are short stature, congenital abnormalities, infertility due to gonadal dysgenesis, with sex hormone insufficiency ensuing from premature ovarian failure, which is involved in lack of proper development of secondary sex characteristics and the frequent...... osteoporosis seen in Turner syndrome. But sex hormone insufficiency is also involved in the increased cardiovascular risk, state of physical fitness, insulin resistance, body composition, and may play a role in the increased incidence of autoimmunity. Severe morbidity and mortality affects females with Turner...... syndrome. Recent research emphasizes the need for proper sex hormone replacement therapy (HRT) during the entire lifespan of females with TS and new hypotheses concerning estrogen receptors, genetics and the timing of HRT offers valuable new information. In this review, we will discuss the effects...

  11. Extremely high concentration of folates in premature newborns.

    Science.gov (United States)

    Zikavska, T; Brucknerova, I

    2014-01-01

    Extremely high concentration of folates in premature newborns: case reports. Folates are a group of water soluble compounds, which are important for metabolic processes in human body. These are important during periods of rapid cell growth. The most accurate indicator of long-term folate level status in the body is the determination of red blood cell (RBC) folate concentrations. The optimal level of RBC folate is not known in neonatal period. Authors discuss the reasons for extremely high level of RBC folate concentrations. In our work we present the cases of two premature newborns with extremely high level of RBC folate concentrations, which were analyzed immunochemically on the first day of life and after six weeks of life. In both cases we measured RBC folate concentrations on the 1st day of life. After 6 weeks we found extremely high RBC folate concentration level (5516.67 ng/ml) in the first case after RBC transfusions. In second case after two months of life the RBC folate concentration level was doubled (2335.1 ng/ml) until 24 hours after RBC transfusion compared to levels after birth. The normal range of RBC folate values vary in newborns. The upper limit of daily dose of folic acid in pregnancy and neonatal period is not known. On the other hand it is an easily excreted water-soluble vitamin but in premature newborn it can lead to the disruption of metabolic balance and slow its degradation. Some factors can have an impact on RBC folate concentration. Blood transfusion can be one of the main influences on RBC folate concentration. To clarify these mechanisms further studies are required (Ref. 29).

  12. The role of serum apelin in retinopathy of prematurity

    Directory of Open Access Journals (Sweden)

    Ali YF

    2017-02-01

    Full Text Available Yasser F Ali,1 Salah El-Morshedy,1 Abdulbasit Abdulhalim Imam,2 Nasser Ismai A Abdelrahman,1 Riad M Elsayed,3 Usama M Alkholy,1 Nermin Abdalmonem,1 Mohammed M Shehab1 1Department of Pediatrics, Faculty of Medicine, Zagazig University, Zagazig, 2Department of Pediatrics, Al-Azhar Faculty of Medicine-Girls, Cairo, 3Pediatric Neurology Unit, Pediatric Department, Mansoura University, Mansoura, Egypt Objective: To evaluate the role of serum apelin as a diagnostic tool in retinopathy of prematurity (ROP disease.Patients and methods: Thirty-eight preterm infants (60% male with gestational age ranging from 30 to 36 weeks admitted to the neonatal intensive care unit, KJO Hospital, Saudi Arabia with proven diagnosis of ROP were included in the study. In addition, 27 preterm infants without ROP served as controls. All newborn infants in the study were subjected to adequate history taking, full clinical examination, and fundus examination by indirect ophthalmoscope (at 4–6 weeks as well as determination of serum apelin at birth and at 4–6 weeks of age.Results: The study revealed that oxygen therapy longer than 7 days’ duration, cesarean section (as a mode of delivery, sepsis, mechanical ventilation, blood transfusion, premature rupture of membranes, pneumothorax, perinatal asphyxia, cardiac problems, and neonatal jaundice were considered as risk factors related to development of ROP. Serum apelin levels were significantly lower in patients than controls (P<0.001 at time of diagnosis of the disease (4–6 weeks while no significant differences were observed in levels at birth.Conclusion: Serum apelin was found to be of significant diagnostic value in the occurrence of ROP. Keywords: retinopathy of prematurity, preterm infants, serum apelin

  13. Erectile dysfunction and premature ejaculation: interrelationships and psychosexual factors.

    Science.gov (United States)

    Brody, Stuart; Weiss, Petr

    2015-02-01

    Both erectile dysfunction (ED) and premature ejaculation (PE) impair the quality of sexual intercourse for both men and their female partners. This study aims to examine with a large representative sample the interrelationships of measures of ED, PE, typical intravaginal ejaculatory latency time (IELT), men's perceived relationship quality with their mother, and age of first being in love. In this cross-sectional study, a nationally representative sample of 960 Czech coitally experienced men (aged 15-84), provided age, International Index of Erectile Function 5-item (IIEF-5), Index of Premature Ejaculation (IPE) scores, IELT, rating of relationship with their mother, and age at first being in love. Correlations, partial correlations adjusting for age, analysis of covariance (ANCOVA), and multiple regression statistical methods were used. IIEF-5, IPE, and IELT were significantly intercorrelated (IIEF-5 and IPE: r=0.64). Better IIEF-5 scores were associated with younger age at first (and ever) being in love. Poorer IPE score, shorter IELT, and mild-moderate ED were associated with poorer perceived mother relationship (which was also associated with first being in love at an older age). Multiple regression analyses revealed that: (i) greater IELT was associated with better erectile function and better mother relationship, but not with age; and (ii) IELT of mother relationship and poorer IIEF-5, but marginally with age. History of homosexual activity was unrelated to IIEF-5, IPE, IELT, and perceived mother relationship scores. The findings suggest that degrees of ED and PE are often comorbid, and both ED and PE are associated with less favorable early experiences with women. Brody S and Weiss P. Erectile dysfunction and premature ejaculation: Interrelationships and psychosexual factors. J Sex Med 2015;12:398-404. © 2014 International Society for Sexual Medicine.

  14. Comparison of UK and US screening criteria for detection of retinopathy of prematurity in a developing nation.

    Science.gov (United States)

    Ugurbas, Silay Canturk; Gulcan, Hande; Canan, Handan; Ankarali, Handan; Torer, Birgin; Akova, Yonca Aydın

    2010-12-01

    To determine the incidence, risk factors, and appropriateness of differing guidelines in developed nations for screening for retinopathy of prematurity (ROP) in a single nursery in a large urban city in southern Turkey. The records of 260 premature infants born ≤34 weeks in a single tertiary unit were retrospectively reviewed for ROP risk factors and diagnosis. Applicability of UK and US criteria were assessed by the use of receiver operating characteristic curves. ROP of any stage was present in 60 infants (23%); ROP requiring treatment was seen in 30 (11.5%). Univariate analysis showed a significant relationship among the following factors: gestational age, birth weight, total duration of supplemental oxygen, duration of mechanical ventilation, respiratory distress syndrome, anemia, and intraventricular hemorrhage (p < 0.0001). Multiple logistic regression analysis showed gestational age (p = 0.039), birth weight (p = 0.05), respiratory distress syndrome (p = 0.05), and anemia (p = 0.004) as independent predictors of ROP requiring treatment. Area under curve for gestational age alone for diagnosing stage 2 or greater ROP was 0.824 ± 0.03 (p = 0.0001) and for birth weight alone was 0.808 ± 0.03 (p = 0.0001). UK screening criteria detected all stage 2 and greater ROP; US screening criteria missed 2 infants with stage 2 ROP but detected all treatment-requiring disease. Adoption of these screening criteria would have reduced unnecessary examinations by either 21% (UK) or 37% (US). UK and US criteria improved the detection accuracy for ROP requiring treatment in Turkey and should be studied for other developing nations. Copyright © 2010 American Association for Pediatric Ophthalmology and Strabismus. Published by Mosby, Inc. All rights reserved.

  15. Some technical implications of Klein's concept of 'premature ego development'.

    Science.gov (United States)

    Mitrani, Judith L

    2007-08-01

    In this paper, the author revisits the problem of 'premature ego development' first introduced by Melanie Klein in 1930. She also highlights several developments in post-Kleinian thinking since the publication of that paper, which can be seen as offshoots of or complements to Klein's work. The author proposes a link between this category of precocious development and the absence of the experience of what Bion termed the 'containing object.' She puts forward several technical considerations relevant to analytic work with patients who suffer as a result of early developmental failures and presents various clinical vignettes in order to demonstrate the ways in which these considerations take shape in the analytic setting.

  16. Unusual persistent fetal vasculature presentation in a premature baby

    Directory of Open Access Journals (Sweden)

    Alon Zahavi

    2015-11-01

    Full Text Available Persistent fetal vasculature (PFV is a congenital developmental disorder manifesting as a fibrovascular remnant of the embryonal hyaloid vascular system within the vitreal space. Retinopathy of prematurity (ROP presents as varying degrees of non-vascularized retinal tissue with potentially devastating ocular complications. Both pathologies arise from ocular vascular system abnormalities, and various treatment modalities have been attempted in the past. In this report we describe a unique case of a late manifesting PFV that may be associated with the development of ROP, complicated by a visually significant cataract.

  17. [Macula structure and function in retinopathy of prematurity].

    Science.gov (United States)

    Kogoleva, L V; Katargina, L A; Rydnitskaia, Ia L

    2011-01-01

    Macula structure and function were studied in 64 patients with retinopathy of prematurity (RP) stage I-III aged 8-17 years old using optical coherence tomography (OCT) and electroretinography. Absence of foveolar depression associated with preservation of fovea layers and normal electroretinography indices were showed to be the evidence of differentiation damage and macula underdevelopment due to immaturity and to have no effect on visual acuity. Preserved or pathologic foveolar depression associated with abnormal OCT findings and central retina electrogenesis damage indicate dysfunction and morphological changes of macula due to not macula underdevelopment because of immaturity only but RP either that can lead to depression, visual function.

  18. Extreme premature with persistent left superior vena cava.

    Science.gov (United States)

    Aboitiz-Rivera, Carlos Manuel; Blachman-Braun, Ruben; Parra-Pérez, Mariana Yazmin

    2017-10-01

    Persistent left superior vena cava (PLSVC) is a congenital anomaly, that results when there is an absence of the normal regression of the left common precardinal vein during embryogenesis. Usually, this anomaly remains asymptomatic, however, when the PLSVC drains into the left atrium this could lead to a right-to-left shunt. Additionally, this can result in inadvertent delivery of air or thrombus into the systemic circulation with potential neurologic, cardiac and renal complications. In this article, we present a case of an extreme premature Mexican newborn in which the diagnosis was made after placement of a percutaneous central venues catheter.

  19. 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....... SETTING: Denmark, Europe. PARTICIPANTS: Nine fathers and 11 mothers of 14 children born before 28 completed weeks of gestation at a tertiary centre were interviewed when their children were 7-10 years old. RESULTS: Whereas developmental delay, functional limitations, family burden, and parental distress...

  20. Dravets syndrom

    DEFF Research Database (Denmark)

    Hansen, Lars Kjaersgård; Rasmussen, Niels Henrik; Ousager, Lilian Bomme

    2010-01-01

    Dravet syndrome is an epileptic syndrome of infancy and early childhood. Most cases of Dravet syndrome seem to be due to a genetic defect causing the sodium channel to malfunction. We describe the main features of the syndrome. This epilepsy is medically intractable, but we call attention...... to the fact that some medications are of benefit and some could exacerbate the condition. Early recognition of the syndrome including by genetic testing could possibly improve outcome and reduce the need for other specialized investigations. Udgivelsesdato: 2010-Feb-22...

  1. Efficacy of metformin on pregnancy complications in women with polycystic ovary syndrome: a meta-analysis.

    Science.gov (United States)

    Feng, Li; Lin, Xiao-Fang; Wan, Zhi-Hua; Hu, Dan; Du, Yu-Kai

    2015-01-01

    To evaluate the efficacy of metformin administration throughout pregnancy on pregnancy-related complications in women with polycystic ovary syndrome (PCOS). MEDLINE and ScienceDirect were searched to retrieve relevant trials. The endpoint was the incidence of complications of pregnancy, gestational diabetes mellitus (GDM), pre-eclampsia (PE), miscarriage and premature birth included. Five studies with 502 PCOS patients with metformin administration throughout pregnancy and 427 controls who used metformin just to get conception were included in our meta-analysis. In study group, a significantly lower change of emerging miscarriage and premature birth was observed, the pooled relative risk (RR) was 0.32 (95% confidence interval (CI): 0.19-0.56) for miscarriage and 0.40 (95%CI: 0.18-0.91) for premature birth. No significant difference was demonstrated in emerging GDM and PE. Metformin therapy throughout pregnancy can reduce the RR of miscarriage and premature birth incidence in PCOS patients with no serious side effects.

  2. Zone 1 retinopathy of prematurity in a transitional economy: a cautionary note.

    Science.gov (United States)

    Carden, Susan M; Lan, Luu Ngoc; Huynh, Tess

    2006-06-01

    To describe three low risk infants in whom severe retinopathy of prematurity developed. A prospective, observational case series. setting: National Hospital of Pediatrics, Hanoi, Vietnam. study population: Premature infants in the neonatal ward. observation procedure: Eye examinations. Severe retinopathy of prematurity occurred in three infants. All had zone 1 disease and other unusually severe findings, such as neovascularization of the disk. These infants would not be at risk for the development of such severe retinopathy of prematurity in countries with a developed economy. Unusual characteristics of retinopathy of prematurity may be occurring in countries with transitional economies. Screening programs should be implemented and should take into consideration the possibility that retinopathy of prematurity may occur in infants who fall outside the screening guidelines that are used in the developed world.

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

    DEFF Research Database (Denmark)

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

    2001-01-01

    Clinical and epidemiological studies suggest that premature ageing and increased morbidity and mortality is present in Ullrich-Turner syndrome. We studied telomere restriction fragment length (TRFL) in 30 women with Ullrich-Turner syndrome and 30 age-matched control women. All Turner women had...... the 45,X karyotype verified by karyotyping. We found no difference in the mean TRFL in the young age group (TS: 7011+/-521 vs C: 7285+/-917 bp, P = 0.3), or in the older age group (TS: 7357+/-573 vs C: 7221+/-621 bp, P = 0.6). In conclusion, our data suggest that Ullrich-Turner syndrome is not associated...... with excessive telomere loss, at least when studied in peripheral blood leucocytes, and thus quite different from other premature ageing syndromes....

  4. Premature sternal fusion in gonadal dysgenesis with coarctation

    International Nuclear Information System (INIS)

    Herman, T.E.; Kushner, D.C.; Cleveland, R.H.

    1985-01-01

    In reviewing lateral chest roentgenograms in three infants with Turner's syndrome and aortic coarctation, and in infant with mixed gonadal dysgenesis and aortic coarctation, we have found obvious sternal fusion abnormalities which are reported here. (orig./MG)

  5. Prematurity reduces functional adaptation to intestinal resection in piglets

    DEFF Research Database (Denmark)

    Aunsholt, Lise; Thymann, Thomas; Qvist, Niels

    2015-01-01

    Background: Necrotizing enterocolitis and congenital gastrointestinal malformations in infants often require intestinal resection, with a subsequent risk of short bowel syndrome (SBS). We hypothesized that immediate intestinal adaptation following resection of the distal intestine with placement ...

  6. Time trends and risk factor associated with premature birth and infants deaths due to prematurity in Hubei Province, China from 2001 to 2012.

    Science.gov (United States)

    Xu, Haiqing; Dai, Qiong; Xu, Yusong; Gong, Zhengtao; Dai, Guohong; Ding, Ming; Duggan, Christopher; Hu, Zubin; Hu, Frank B

    2015-12-10

    The nutrition and epidemiologic transition has been associated with an increasing incidence of preterm birth in developing countries, but data from large observational studies in China have been limited. Our study was to describe the trends and factors associated with the incidence of preterm birth and infant mortality due to prematurity in Hubei Province, China. We conducted a population-based survey through the Maternal and Child Health Care Network in Hubei Province from January 2001 to December 2012. We used data from 16 monitoring sites to examine the trend and risk factors for premature birth as well as infant mortality associated with prematurity. A total of 818,481 live births were documented, including 76,923 preterm infants (94 preterm infants per 1,000 live births) and 2,248 deaths due to prematurity (2.75 preterm deaths per 1,000 live births). From 2001 to 2012, the incidence of preterm birth increased from 56.7 to 105.2 per 1,000 live births (P for trend prematurity declined from 95.0 to 13.4 per 1,000 live births (P for trend prematurity were observed in Hubei Province from 2001 to 2012. Our results provide important information for areas of improvements in reducing incidence and mortality of premature birth.

  7. Screening for retinopathy of prematurity and treatment outcome in a tertiary hospital in Hong Kong.

    Science.gov (United States)

    Iu, L Pl; Lai, C Hy; Fan, M Cy; Wong, I Yh; Lai, J Sm

    2017-02-01

    Studies on the prevalence and severity of retinopathy of prematurity in the local population are scarce. This study aimed to evaluate the prevalence, screening, and treatment outcome of retinopathy of prematurity in a tertiary hospital in Hong Kong. This cross-sectional study with internal comparison was conducted at Queen Mary Hospital, Hong Kong. The study evaluated 89 premature infants who were born at the hospital and were screened for retinopathy of prematurity, in accordance with the 2008 British Guidelines, between January 2013 and December 2013. The prevalences of retinopathy of prematurity and severe retinopathy requiring treatment were studied. The mean (± standard deviation) gestational age at birth was 30 +2 weeks ± 16.5 days (range, 24 +1 to 35 +5 weeks). The mean birth weight was 1285 g ± 328 g (range, 580 g to 2030 g). A total of 15 (16.9%) infants developed retinopathy of prematurity and three (3.4%) required treatment. In a subgroup analysis of extremely-low-birth-weight infants of prematurity and 17.6% required treatment. Multivariate logistic regression analysis suggested low birth weight and patent ductus arteriosus were significantly associated with development of retinopathy of prematurity (Pprematurity, all regressed successfully after one laser treatment. Retinopathy of prematurity is a significant problem among premature infants in Hong Kong, especially those with extremely low birth weight. Our screening service for retinopathy of prematurity was satisfactory and treatment results were good. Strict adherence to international screening guidelines and vigilance in infants at risk are key to successful management of retinopathy of prematurity.

  8. FEATURES OF INTENSIVE NUTRITIONAL SUPPORT OF PREMATURE INFANTS IN INTENSIVE CARE UNIT (PART 1

    Directory of Open Access Journals (Sweden)

    K.V. Romanenko

    2011-01-01

    Full Text Available The article presents the modern approaches to preterm infants feeding, principles of parenteral and enteral nutrition. The importance of adequate control of deficit status in preterm infants at different periods of developmental care is marked. Arguments for using the enriched milk or specialized formulas for prematurity during the in-clinic and out-clinic periods of care are provided.Key words: premature infants, enteral nutrition, formulas for premature infants, breast milk, breast milk enriches.

  9. Long-term space changes after premature loss of a primary maxillary first molar

    OpenAIRE

    Lin, Yng-Tzer J.; Lin, Yai-Tin

    2016-01-01

    Background/purpose: The consequence of premature loss of primary teeth resulting in the need for space maintainers has been controversial for many years. There is no longitudinal long-term report in literature regarding the premature loss of a primary maxillary first molar. The aim of this study was to continue observing the long-term space changes of 19 cases following premature loss of a primary maxillary first molar during the transition from primary to permanent dentition. Materials an...

  10. The Effect of Body Position on Pain Due to Nasal Continuous Positive Airway Pressure (CPAP in Premature Neonates: A Cross-Over Clinical Trial Study

    Directory of Open Access Journals (Sweden)

    Mahnaz Jabraeili

    2018-01-01

    Full Text Available Background The most common cause of admission to neonatal intensive care units (NICU is respiratory distress syndrome. One of the respiratory assistance methods is using nasal continuous positive airway pressure (CPAP. Regarding the importance of pain control which is one of the major priorities in neonatal nursing care, this study aimed to evaluate the effect of body position on pain due to nasal CPAP in premature neonates. Materials and Methods In this cross-over clinical trial, 50 premature neonates who were receiving nasal CPAP admitted to the NICU of Imam Reza Hospital, Kermanshah, Iran, were included. The neonates were randomly placed at three body positions (fetal, supine, and prone positions. Pain was measured by Astrid Lindgren Children’s Hospital Pain Scale Neonates (ALPS-Neo pain assessment scale. The collected data were analyzed using the SPSS software (Version 22.0. Results Significant difference existed regarding pain of nasal CPAP among body positions (p< 0.001. Mean (SD pain was 5.15 (0.822 in fetal position, 6.260 (0.747 in prone position and 7.326 (0.792 in supine position. Conclusion Body positioning in premature neonates under nasal CPAP in NICU can be effective as a non-pharmacologic method in alleviating pain due to nasal CPAP. Among the studied positions, the lowest pain score was seen in fetal position.

  11. Neonatal Respiratory Distress Syndrome: Early Diagnosis, Prevention, and Treatment

    Directory of Open Access Journals (Sweden)

    S. A. Perepelitsa

    2012-01-01

    Full Text Available to improve treatment results in premature infants with neonatal respiratory distress syndrome (NRDS, by establishing developmental mechanisms and elaborating methods for its early diagnosis, treatment, and prevention. Material and methods. The paper analyzes the results of a clinical observation and laboratory, instrumental, immunological, morphological, and radiological studies of 320 premature neonates at 26—35 weeks gestational age. The following groups of neonates were identified: 1 40 premature neonatal infants without NRDS and with the physiological course of an early neonatal period (a comparison group; 2 190 premature neonates with severe NRDS in whom the efficiency of therapy with exogenous surfactants, such as surfactant BL versus curosurf, was evaluated; 3 90 premature newborn infants who had died from NRDS at its different stages. Results. The poor maternal somatic, obstetric, and gynecological histories in the early periods of the current pregnancy create prerequisites for its termination, favor the development of severe acute gestosis, and cause abnormal placental changes. Each gestational age is marked by certain placental changes that promote impaired uterineplacentalfetal blood flow and premature birth. Alveolar and bronchial epithelial damages, including those ante and intranatally, microcircula tory disorders play a leading role in the tanatogenesis of NRDS. Intranatal hypoxia and amniotic fluid aspiration are one of the important factors contributing to alveolar epithelial damage and NRDS in premature neonates. Exogenous surfactants prevent the development of hyaline membranes and are useful in the normalization of ventilation-perfusion relationships and lung biomechanical properties. Conclusion. This study could improve the diagnosis and treatment of NRDS, which assisted in reducing the duration of mechanical ventilation from 130±7.6 to 65±11.6 hours, the number of complications (the incidence of intragastric

  12. Influence of the blood glucose level on the development of retinopathy of prematurity in extremely premature children

    Directory of Open Access Journals (Sweden)

    Galina V. Nicolaeva

    2015-08-01

    Full Text Available ABSTRACTPurpose:To investigate the influence of the blood glucose level on the development of retinopathy of prematurity (ROP in extremely premature infants.Methods:Sixty-four premature infants with a gestational age of less than 30 weeks and a birth weight of less than 1500 g were included in the study. Children without ROP were allocated to Group 1 (n=14, gestational age 28.6 ± 1.4 weeks, birth weight 1162 ± 322 g, and children with spontaneous regression of ROP were allocated to Group 2 (n=32, gestational age 26.5 ± 1.2 weeks, birth weight 905 ± 224 g. Children with progressive ROP who underwent laser treatment were included in Group 3 (n=18, gestational age 25.4 ± 0.7 weeks, birth weight 763 ± 138 g. The glucose level in the capillary blood of the premature infants was monitored daily during the first 3 weeks of life. A complete ophthalmological screening was performed from the age of 1 month. The nonparametric signed-rank Wilcoxon-Mann-Whitney test was used for statistical analysis.Results:The mean blood glucose level was 7.43 ± 2.6 mmol/L in Group 1, 7.8 ± 2.7 mmol/L in Group 2, and 6.7 ± 2.6 mmol/L in Group 3. There were no significant differences in the blood glucose levels between children with and without ROP, and also between children with spontaneously regressing ROP and progressive ROP (p>0.05. Additionally, there were no significant differences in the blood glucose levels measured at the first, second, and third weeks of life (p>0.05.Conclusion:The blood glucose level is not related to the development of ROP nor with its progression or regression. The glycemic level cannot be considered as a risk factor for ROP, but reflects the severity of newborns’ somatic condition and morphofunctional immaturity.

  13. Impact of physiotherapy on neuromotor development of premature newborns

    Directory of Open Access Journals (Sweden)

    Giselle Athayde Xavier Coutinho

    Full Text Available Introduction The population of children born prematurely has increased in line with improving the quality of perinatal care. It is essential to ensure to these children a healthy development. Objective We evaluate the neuromotor development of a group of preterm infants regularly assisted by a physiotherapy service in comparison to full-term newborns, checking, so the impact of the service. Materials and methods We randomly assigned preterm and full-term infants that formed two distinct groups. The group of preterm infants was inserted into a monitoring program of physiotherapy while the other infants were taken as a control group not receiving any assistance in physiotherapy. The groups were compared using the Alberta Infant Motor Scale (AIMS at forty-week, four and six months of corrected gestational age and the scores were compared using Student's t-test, assuming a significance level of 5% (p < 0.05. Results The preterm group had significantly lower scores at 40th week compared to the control group, but subsequent scores showed no significant differences between the two groups. Conclusion The timely and adequate stimulation was efficient to promote the motor development of premature infants included in a follow up clinic.

  14. Mandibular function, temporomandibular disorders, and headache in prematurely born children.

    Science.gov (United States)

    Paulsson, Liselotte; Ekberg, Ewacarin; Nilner, Maria; Bondemark, Lars

    2009-01-01

    To evaluate mandibular function, signs, and symptoms of temporomandibular disorders (TMDs) and headache in prematurely born 8- to 10-year-old children, and to compare the findings with matched full-term born controls. Seventy-three preterm children were selected from the Medical Birth Register--one group comprising 36 extremely preterm children born before the 29th gestational week, the other group 37 very preterm children born during gestational weeks 29 to 32. The preterm children were compared with a control group of 41 full-term children matched for gender, age, nationality, and living area. The subjective symptoms of TMD and headache were registered using a questionnaire. Mandibular function, signs, and symptoms of TMD and headache were registered. TMD diagnoses were set per Research Diagnostic Criteria for temporomandibular disorders (RDC/TMD). No significant differences between groups or gender were found for TMD diagnoses according to RDC/TMD or for headache. The preterm children had smaller mandibular movement capacity than the full-term control group, but when adjusting for weight, height, and head circumference mostly all group differences disappeared. Prematurely born children of 8 to 10 years of age did not differ from full-term born children when considering diagnoses according to RDC/TMD, signs, and symptoms of TMD or headache.

  15. Adolescent Premature Ovarian Insufficiency Following Human Papillomavirus Vaccination

    Directory of Open Access Journals (Sweden)

    Deirdre Therese Little MBBS, DRANZCOG, FACRRM

    2014-10-01

    Full Text Available Three young women who developed premature ovarian insufficiency following quadrivalent human papillomavirus (HPV vaccination presented to a general practitioner in rural New South Wales, Australia. The unrelated girls were aged 16, 16, and 18 years at diagnosis. Each had received HPV vaccinations prior to the onset of ovarian decline. Vaccinations had been administered in different regions of the state of New South Wales and the 3 girls lived in different towns in that state. Each had been prescribed the oral contraceptive pill to treat menstrual cycle abnormalities prior to investigation and diagnosis. Vaccine research does not present an ovary histology report of tested rats but does present a testicular histology report. Enduring ovarian capacity and duration of function following vaccination is unresearched in preclinical studies, clinical and postlicensure studies. Postmarketing surveillance does not accurately represent diagnoses in adverse event notifications and can neither represent unnotified cases nor compare incident statistics with vaccine course administration rates. The potential significance of a case series of adolescents with idiopathic premature ovarian insufficiency following HPV vaccination presenting to a general practice warrants further research. Preservation of reproductive health is a primary concern in the recipient target group. Since this group includes all prepubertal and pubertal young women, demonstration of ongoing, uncompromised safety for the ovary is urgently required. This matter needs to be resolved for the purposes of population health and public vaccine confidence.

  16. Current pharmacological agents for the treatment of premature ejaculation

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    Onur Dede

    2014-06-01

    Full Text Available This study was aimed to review and assess the update studies regarding medical treatment for premature ejaculation (PE. It is the most common sexual problem affecting men. It can affect men at all ages and has a serious impact on the quality of life for men and their partners. A wide variety of therapeutic modalities have been tried for treatment of premature ejaculation. Psychological therapies may be helpful for patients with complaint PE. Several topical therapies have been used including lidocaine cream, lidocaine-prilocaine cream. There has been recent interest in the selective serotonin reuptake inhibitors (SSRI for the treatment of PE, due to the fact that one of their common side effects is delayed ejaculation. Currently used SSRIs have several non-sexual side effects and long half lives, therefore there has been interest in developing a short acting, and efficacious SSRI that can be used on-demand for PE. Dapoxetine has been recently evaluated for the treatment of PE by several groups, and results so far appear promising.

  17. Recent advances in the treatment of premature ejaculation

    Directory of Open Access Journals (Sweden)

    Kate D Linton

    2010-01-01

    Full Text Available Kate D Linton, Kevan R WylieSheffield Teaching Hospitals, Sheffield, UKAbstract: Premature ejaculation (PE is the most common sexual problem affecting men. It can affect men at all ages and has a serious impact on the quality of life for men and their partners. Currently there are no pharmaceutical agents approved for use in the UK, and so all drugs used for this condition are off label. Behavioral therapy has been used to treat PE, but the results are not durable once therapy has been concluded. Several topical therapies have been used including severance-secret (SS cream, lignocaine spray, lidocaine-prilocaine cream and lidocaine-prilocaine spray (TEMPE. There has been recent interest in the selective serotonin reuptake inhibitors (SSRIs for the treatment of PE, due to the fact that one of their common side effects is delayed ejaculation. Currently used SSRIs have several non-sexual side effects and long half lives, therefore there has been interest in developing a short acting, efficacious SSRI that can be used on-demand for PE. Dapoxetine has been recently evaluated for the treatment of PE by several groups, and results so far appear promising.Keywords: premature ejaculation, topical therapies, selective serotonin re-uptake inhibitor, dapoxetine

  18. Reevaluation of the DHA requirement for the premature infant.

    Science.gov (United States)

    Lapillonne, Alexandre; Jensen, Craig L

    2009-01-01

    The long-chain polyunsaturated fatty acid (LC-PUFA) intake in preterm infants is crucial for normal central nervous system development and has the potential for long-lasting effects that extend beyond the period of dietary insufficiency. While much attention has focused on improving their nutritional intake, many premature infants do not receive an adequate DHA supply. We demonstrate that enterally fed premature infants exhibit daily DHA deficit of 20mg/kg.d, representing 44% of the DHA that should have been accumulated. Furthermore, the DHA content of human milk and current preterm formulas cannot compensate for an early DHA deficit which may occur during the first month of life. We recommend breast-feeding, which supplies preformed LC-PUFA, as the preferred method of feeding for preterm infants. However, to fulfill the specific DHA requirement of these infants, we recommend increasing the DHA content of human milk either by providing the mothers with a DHA supplement or by adding DHA directly to the milk. Increasing the DHA content above 1% total fatty acids appears to be safe and may enhance neurological development particularly that of infants with a birth weight below 1250 g. We estimate that human milk and preterm formula should contain approximately 1.5% of fatty acid as DHA to prevent the appearance of a DHA deficit and to compensate for the early DHA deficit.

  19. Bilateral Coats’ Disease Combined with Retinopathy of Prematurity

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    Huseyin Gursoy

    2015-01-01

    Full Text Available Purpose. To report a case of bilateral Coats’ disease combined with retinopathy of prematurity (ROP. Case. Retinal vascularization was complete in the right eye, whereas zone III, stage 3 ROP and preplus disease were observed in the left eye at 43 weeks of postmenstrual age (PMA in a 31-week premature, 1200-g neonate. Intraretinal exudates developed and retinal hemorrhages increased in the left eye at 51 weeks of PMA. Diode laser photocoagulation (LP was applied to the left eye. Exudates involved the macula, and telangiectatic changes developed one month following LP. Additional LP was applied to the left eye combined with intravitreal bevacizumab (IVB injection at 55 weeks of PMA. Disease regressed one month after the additional therapy. At the 14-month examination of the baby, telangiectatic changes and intraretinal exudates were observed in the right eye. Diode LP was applied to the right eye combined with IVB injection. Exudates did not resolve completely, and cryotherapy was applied one month following LP. Retinal findings regressed three months following the cryotherapy. Conclusion. This is the first report of presumed bilateral Coats’ disease combined with ROP. If Coats’ disease could be diagnosed at early stages, it would be a disease associated with better prognosis.

  20. Mean trombosit volume in patients with retinopathy of prematurity

    Directory of Open Access Journals (Sweden)

    Harun Yüksel

    2014-06-01

    Full Text Available Objective: We aimed to evaluate the mean platelet volume (MPV in patients with retinopathy of prematurity (ROP with respect to development of type 1 ROP Methods: The medical records of the premature infants were evaluated. Babies with a birth weight under 1500 g and a gestational age under 32 weeks were enrolled to the study. Birth weight, gestational age, onset and grade of retinopathy, presence of plus disease were analyzed. At the time of type 1 ROP diagnosis, blood samples were obtained. In the patients without type 1 ROP the blood samples were also obtained at similar gestational age. Hemoglobin, hematocrit, platelet count, and MPV results were recorded. Results: Sixty-three infants were studied. 22 of them had type 1 ROP and 41 had not developed type 1 ROP. The mean gestational age and the mean birth weight between groups were not statistically significant. The mean MPV values in patients with type 1 ROP and without type 1 ROP was 9,1±2,0 fL and 9,4±1,8 fL, respectively (p=0.61. Conclusion: The results demonstrated that MPV values were not associated with severity of ROP in our study population. J Clin Exp Invest 2014; 5 (2: 443-446

  1. Genetic and Environmental Influences on Retinopathy of Prematurity

    Science.gov (United States)

    Ortega-Molina, J. M.; Anaya-Alaminos, R.; Uberos-Fernández, J.; Solans-Pérez de Larraya, A.; Chaves-Samaniego, M. J.; Salgado-Miranda, A.; Piñar-Molina, R.; Jerez-Calero, A.; García-Serrano, J. L.

    2015-01-01

    Objective. The goals were to isolate and study the genetic susceptibility to retinopathy of prematurity (ROP), as well as the gene-environment interaction established in this disease. Methods. A retrospective study (2000–2014) was performed about the heritability of retinopathy of prematurity in 257 infants who were born at a gestational age of ≤32 weeks. The ROP was studied and treated by a single pediatric ophthalmologist. A binary logistic regression analysis was completed between the presence or absence of ROP and the predictor variables. Results. Data obtained from 38 monozygotic twins, 66 dizygotic twins, and 153 of simple birth were analyzed. The clinical features of the cohorts of monozygotic and dizygotic twins were not significantly different. Genetic factors represented 72.8% of the variability in the stage of ROP, environmental factors 23.08%, and random factors 4.12%. The environmental variables representing the highest risk of ROP were the number of days of tracheal intubation (p < 0.001), postnatal weight gain (p = 0.001), and development of sepsis (p = 0.0014). Conclusion. The heritability of ROP was found to be 0.73. The environmental factors regulate and modify the expression of the genetic code. PMID:26089603

  2. Gross morphological changes in premature and post mature human plancentae

    International Nuclear Information System (INIS)

    Sherin, F.; Afzal, E.; Seema, N.

    2015-01-01

    Placenta is a valuable tool for maternal and foetal diseases. Gross pathological changes are seen in the placenta of many disorders of pregnancy, which are associated with high perinatal morbidity and mortality. This study was conducted with the aim to compare the morphological features of preterm, term and post term placentae in our setup. Methods: This cross sectional study was conducted on 150 placentae: 50 were from normal (term) pregnancies considered as control (delivered between 37 to 42 weeks of gestation.), 50 from premature pregnancies (gestational age between 35-37 weeks) from mothers having hypertensive disorders of pregnancy, and 50 from post mature pregnancies (gestational age more than 42 weeks). The placentae were collected from Department of Obstetrics and Gynaecology, Khyber Teaching Hospital, Peshawar, through purposive sampling. Placentae were examined in the department of Anatomy, Khyber Medical College Peshawar. Results: In gross morphological features of placentae (weight and diameter) showed significant (p<0.001) among the groups Conclusion: In was concluded that the hypertensive disorders of the pregnancy adversely influence the morphology of placenta, which leads to the premature delivery. (author)

  3. Early onset neonatal sepsis in preterm premature rupture of membranes

    International Nuclear Information System (INIS)

    Ashraf, M.N.

    2015-01-01

    To determine the frequency of early onset neonatal sepsis in newborn with various duration of preterm premature rupture of membranes (PPROM). Study Design: Cross sectional study. Place and Duration of Study: Neonatal Intensive Care Unit Combined Military Hospital, Lahore from November 2009 to November 2010. Material and Methods: Neonates of singleton pregnancies complicated by preterm premature rupture of the membranes (PPROM) with delivery between 30 and 36 weeks gestation were included in the study. The overall frequency of neonatal sepsis was calculated on clinical and serological basis. Comparison of the frequency of sepsis among groups with varying duration of rupture of membranes was done. Results: Out of 164 babies, 84 (51.2%) were female and 80 (48.8%) were male. Mean maternal age was 23 years (range: 18-36 years). Mean gestational age was 33 weeks (range: 30-36 weeks). Sepsis was suspected in 41(25%) babies on clinical grounds. C-reactive protein was raised in 36 (22%) neonates. There was statistically insignificant difference between clinical versus serological diagnosis (p=0.515). Frequency of neonatal sepsis was significantly higher in mothers with longer duration of rupture of membrane (p < 0.001). Conclusion: Frequency of neonatal sepsis was observed to be 22%. PPROM is an important risk factor for early onset neonatal sepsis. (author)

  4. Premature menopause or early menopause and risk of ischemic stroke

    Science.gov (United States)

    Rocca, Walter A.; Grossardt, Brandon R.; Miller, Virginia M.; Shuster, Lynne T.; Brown, Robert D.

    2011-01-01

    Objective The general consensus has been that estrogen is invariably a risk factor for ischemic stroke (IS). We reviewed new observational studies that challenge this simple conclusion. Methods This was a review of observational studies of the association of premature or early menopause with stroke or IS published in English from 2006 through 2010. Results Three cohort studies showed an increased risk of all stroke in women who underwent bilateral oophorectomy compared with women who conserved their ovaries before age 50 years. The increased risk of stroke was reduced by hormonal therapy (HT) in one of the studies, suggesting that estrogen deprivation is involved in the association. Four additional observational studies showed an association of all stroke or IS with the early onset of menopause or with a shorter lifespan of ovarian activity. In three of the seven studies, the association was restricted to IS. Age at menopause was more important than type of menopause (natural vs induced). Conclusions The findings from seven recent observational studies challenge the consensus that estrogen is invariably a risk factor for IS and can be reconciled by a unifying timing hypothesis. We hypothesize that estrogen is protective for IS before age 50 years and may become a risk factor for IS after age 50 years or, possibly, after age 60 years. These findings are relevant to women who experienced premature or early menopause, or to women considering prophylactic bilateral oophorectomy before the onset of natural menopause. PMID:21993082

  5. Premature mortality in active convulsive epilepsy in rural Kenya

    Science.gov (United States)

    Bottomley, Christian; Fegan, Gregory; Chengo, Eddie; Odhiambo, Rachael; Bauni, Evasius; Neville, Brian; Kleinschmidt, Immo; Sander, Josemir W.; Newton, Charles R.

    2014-01-01

    Objective: We estimated premature mortality and identified causes of death and associated factors in people with active convulsive epilepsy (ACE) in rural Kenya. Methods: In this prospective population-based study, people with ACE were identified in a cross-sectional survey and followed up regularly for 3 years, during which information on deaths and associated factors was collected. We used a validated verbal autopsy tool to establish putative causes of death. Age-specific rate ratios and standardized mortality ratios were estimated. Poisson regression was used to identify mortality risk factors. Results: There were 61 deaths among 754 people with ACE, yielding a rate of 33.3/1,000 persons/year. Overall standardized mortality ratio was 6.5. Mortality was higher across all ACE age groups. Nonadherence to antiepileptic drugs (adjusted rate ratio [aRR] 3.37), cognitive impairment (aRR 4.55), and age (50+ years) (rate ratio 4.56) were risk factors for premature mortality. Most deaths (56%) were directly related to epilepsy, with prolonged seizures/possible status epilepticus (38%) most frequently associated with death; some of these may have been due to sudden unexpected death in epilepsy (SUDEP). Possible SUDEP was the likely cause in another 7%. Conclusion: Mortality in people with ACE was more than 6-fold greater than expected. This may be reduced by improving treatment adherence and prompt management of prolonged seizures and supporting those with cognitive impairment. PMID:24443454

  6. Raised Vaginal Fluid Fibronectin Level Indicates Premature Rupture of Membrane

    Directory of Open Access Journals (Sweden)

    Amrita Bhowmik

    2012-07-01

    Full Text Available Background: Premature rupture of membrane (PROM is one of the common complications of pregnancy that has major impact on fetal and neonatal outcome. It is the commonest clinical event where a normal pregnancy becomes suddenly a high-risk one for mother and fetus or neonate. Objective: The study was undertaken to investigate whether raised fibronectin level in vaginal fluid may indicate premature rupture of membrane. Materials and Methods: This cross sectional study was conducted in the department of Obstetrics and Gynecology in Sir Salimullah Medical College & Mitford Hospital, Dhaka during the period of January 2006 to December 2007. A total of 114 pregnant women with gestational age 28th week up to 40th week were included. Sixty were PROM (Group I and 54 were non-PROM (Group II subjects. Fibronectin in vaginal fluid was measured by an immunochemical reaction by nephelometer. Statistical analysis was done by SPSS version 10.0. Results: The PROM patients had significantly higher concentration of fibronectin (225.77 ± 115.18 ng/mL compared to that in non-PROM subjects (8.04 ± 16.17 ng/mL (p < 0.001. Conclusion: It can be concluded that in cases of unequivocal rupture or intactness of the membranes, the result of the fibronectin test corresponds well with the clinical situation. So fibronectin is a sensitive test for detection of amniotic fluid in the vagina.

  7. Serbia within the European context: An analysis of premature mortality.

    Science.gov (United States)

    Santric Milicevic, Milena; Bjegovic, Vesna; Terzic, Zorica; Vukovic, Dejana; Kocev, Nikola; Marinkovic, Jelena; Vasic, Vladimir

    2009-08-05

    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. 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 financial and human resources incorporated in the prevention of disease and injury burden.

  8. Ozone Induced Premature Mortality and Crop Yield Loss in China

    Science.gov (United States)

    Lin, Y.; Jiang, F.; Wang, H.

    2017-12-01

    Exposure to ambient ozone is a major risk factor for health impacts such as chronic obstructive pulmonary disease (COPD) and cause damage to plant and agricultural crops. But these impacts were usually evaluated separately in earlier studies. We apply Community Multi-scale Air Quality model to simulate the ambient O3 concentration at a resolution of 36 km×36 km across China. Then, we follow Global Burden of Diseases approach and AOT40 (i.e., above a threshold of 40 ppb) metric to estimate the premature mortalities and yield losses of major grain crops (i.e., winter wheat, rice and corn) across China due to surface ozone exposure, respectively. Our results show that ozone exposure leads to nearly 67,700 premature mortalities and 145 billion USD losses in 2014. The ozone induced yield losses of all crop production totaled 78 (49.9-112.6)million metric tons, worth 5.3 (3.4-7.6)billion USD, in China. The relative yield losses ranged from 8.5-14% for winter wheat, 3.9-15% for rice, and 2.2-5.5% for maize. We can see that the top four health affected provinces (Sichuan, Henan, Shandong, Jiangsu) are also ranking on the winter wheat and rice crop yield loss. Our results provide further evidence that surface ozone pollution is becoming urgent air pollution in China, and have important policy implications for China to alleviate the impacts of air pollution.

  9. THE PREVENTION OF BLINDNESS AND VISUAL IMPAIRMENT IN CHILDREN WITH RETINOPATHY OF PREMATURITY

    Directory of Open Access Journals (Sweden)

    V. V. Neroev

    2015-01-01

    Full Text Available The system of blindness prevention and visual impairment in children with retinopathy of prematurity is a multidisciplinary medical problem, and includes the prevention of the preterm birth, the correction of terms of caring for premature babies, early detection, monitoring, and treatment of retinopathy of prematurity, as well as the organization of the long clinical supervision. Patients with retinopathy of prematurity need a comprehensive approach to the prevention of the visual impairment in order to ensure high functional outcomes and improve their quality of life. 

  10. Sizeable acquired subglottic cyst in a baby with Williams-Beuren syndrome: association or coincidence?

    Science.gov (United States)

    Christoforidis, Athanasios; Tsakalides, Christos; Chatziavramidis, Angelos; Karagianni, Paraskevi; Dimitriadou, Meropi; Konstantinidis, Iordanis

    2013-10-15

    We describe a case of an acquired subglottic cyst presented with persistent stridor and voice hoarsening in a baby diagnosed with Williams-Beuren syndrome that was born premature and required intubation during neonatal period. We also comment on whether this is a coincidence or there can be an association between impaired elastogenesis, a feature of patients with the syndrome and the formation of a subglottic cyst. © 2013 Elsevier B.V. All rights reserved.

  11. Antenatal Bartter syndrome presenting as hyperparathyroidism with hypercalcemia and hypercalciuria: a case report and review.

    Science.gov (United States)

    Gross, Itai; Siedner-Weintraub, Yael; Simckes, Ari; Gillis, David

    2015-07-01

    Antenatal type I Bartter syndrome (ABS) is usually identified by the presence of polyhydramnios, premature delivery, hypokalemia, metabolic alkalosis, hypercalciuria, and nephrocalcinosis caused by mutations in the Na-K-2Cl cotransporter (NKCC2)-encoding SLC12A1 gene. In this report, we describe a novel presentation of this syndrome with hypercalcemic hypercalciuric hyperparathyroidism, and review the literature of the variable atypical presentations of ABS.

  12. Prevalence and risk factors of retinopathy of prematurity in Iran: a systematic review and meta-analysis.

    Science.gov (United States)

    Azami, Milad; Jaafari, Zahra; Rahmati, Shoboo; Farahani, Afsar Dastjani; Badfar, Gholamreza

    2018-04-02

    Retinopathy of prematurity (ROP) refers to the developmental disorder of the retina in premature infants and is one of the most serious and most dangerous complications in premature infants. The prevalence of ROP in Iran is different in various parts of Iran and its prevalence is reported to be 1-70% in different regions. This study aims to determine the prevalence and risk factors of ROP in Iran. This review article was conducted based on the preferred reporting items for systematic review and meta-analysis (PRISMA) protocols. To find literature about ROP in Iran, a comprehensive search was done using MeSH keywords in several online databases such as PubMed, Ovid, Science Direct, EMBASE, Web of Science, CINAHL, EBSCO, Magiran, Iranmedex, SID, Medlib, IranDoc, as well as the Google Scholar search engine until May 2017. Comprehensive Meta-analysis Software (CMA) Version 2 was used for data analysis. According to 42 studies including 18,000 premature infants, the prevalence of ROP was reported to be 23.5% (95% CI: 20.4-26.8) in Iran. The prevalence of ROP stages 1, 2, 3, 4 and 5 was 7.9% (95% CI: 5.3-11.5), 9.7% (95% CI: 6.1-15.3), 2.8% (95% CI: 1.6-4.9), 2.9% (95% CI: 1.9-4.5) and 3.6% (95% CI: 2.4-5.2), respectively. The prevalence of ROP in Iranian girls and boys premature infants was 18.3% (95% CI: 12.8-25.4) and 18.9% (95% CI: 11.9-28.5), respectively. The lowest prevalence of ROP was in the West of Iran (12.3% [95% CI: 7.6-19.1]), while the highest prevalence was associated with the Center of Iran (24.9% [95% CI: 21.8-28.4]). The prevalence of ROP is increasing according to the year of study, and this relationship is not significant (p = 0.181). The significant risk factors for ROP were small gestational age (p < 0.001), low birth weight (p < 0.001), septicemia (p = 0.021), respiratory distress syndrome (p = 0.036), intraventricular hemorrhage (p = 0.005), continuous positive pressure ventilation (p = 0.023), saturation above 50% (p

  13. Apert Syndrome in Lagos – a Case Report and Literature Review ...

    African Journals Online (AJOL)

    Apert Syndrome is a rare autosomal dominant disorder characterized by premature fusion of sutures of bones of the skull (Craniosynostosis), fingers and toes (Syndactyly) to different degree. Though it is rare, it is pertinent for clinicians to know about this condition so as to improve their ability to manage it and to note that ...

  14. Prenatal diagnosis of long QT syndrome with the superior vena cava-aorta Doppler approach.

    Science.gov (United States)

    Chabaneix, Julie; Andelfinger, Gregor; Fournier, Anne; Fouron, Jean-Claude; Raboisson, Marie-Josée

    2012-10-01

    We describe a fetus at 36 weeks with long QT syndrome presenting with variable types of atrioventricular blocks, ventricular premature beats, and torsades de pointes. All these diagnoses were made with the superior vena cava-aorta Doppler approach and confirmed with postnatal electrocardiography. Copyright © 2012 Mosby, Inc. All rights reserved.

  15. Neonatal bartter syndrome in an extremely low birth weight baby

    Directory of Open Access Journals (Sweden)

    Deeparaj Hegde

    2017-01-01

    Full Text Available Early diagnosis of Bartter syndrome (BS in the neonatal period is a clinical challenge, more so in an extremely low birth weight (ELBW baby because of the inherent renal immaturity and the associated difficulty in fluid management. However, once a diagnosis is made, the disorder is known to respond well to fluid and electrolyte management, prostaglandin inhibitors, and potassium-sparing diuretics. Herein, we report a case of neonatal BS in a very premature ELBW infant.

  16. Urofacial syndrome

    Directory of Open Access Journals (Sweden)

    Kamal F Akl

    2012-01-01

    Full Text Available The urofacial syndrome is characterized by functional obstructive uropathy asso-ciated with an inverted smile. The importance of the subject is that it sheds light, not only on the muscles of facial expression, but also on the inheritance of voiding disorders and lower urinary tract malformations. We report a 10-year-old-male patient who had the urofacial syndrome. Early diagnosis of the urofacial syndrome is important to avoid upper urinary tract damage and renal failure.

  17. Refeeding syndrome

    OpenAIRE

    Tripathy, Swagata; Mishra, Padmini; Dash, S. C.

    2008-01-01

    Refeeding syndrome is a potentially fatal medical condition that may affect malnourished patients in response to an inappropriately rapid overfeeding. This commonly occurs following the institution of nutritional support, especially parenteral or enteral nutrition. The most characteristic pathophysiology of refeeding syndrome relates to the rapid consumption of phosphate after glucose intake and subsequent hypophosphatemia. Refeeding syndrome can manifest as either metabolic changes (hypokala...

  18. Revesz syndrome

    Directory of Open Access Journals (Sweden)

    Dayane Cristine Issaho

    2015-04-01

    Full Text Available Revesz syndrome is a rare variant of dyskeratosis congenita and is characterized by bilateral exudative retinopathy, alterations in the anterior ocular segment, intrauterine growth retardation, fine sparse hair, reticulate skin pigmentation, bone marrow failure, cerebral calcification, cerebellar hypoplasia and psychomotor retardation. Few patients with this syndrome have been reported, and significant clinical variations exist among patients. This report describes the first Brazilian case of Revesz syndrome and its ocular and clinical features.

  19. Prevalence of retinopathy of prematurity in Latin America

    Directory of Open Access Journals (Sweden)

    Carrion JZ

    2011-12-01

    Full Text Available Juliana Zimmermann Carrion1, João Borges Fortes Filho2, Marcia Beatriz Tartarella3, Andrea Zin4, Ignozy Dorneles Jornada Jr41Program for the Prevention of Blindness due to Retinopathy of Prematurity, Hospital de Clínicas de Porto Alegre, Porto Alegre, 2Department of Ophthalmology, Medical School, Federal University of Rio Grande do Sul and Hospital de Clínicas de Porto Alegre, Porto Alegre, 3Federal University of São Paulo, São Paulo, 4Departament of Neonatology, Instituto Fernandes Figueira, Rio de Janeiro, 5University Luterana do Brasil School of Medicine, Canoas, BrazilAbstract: The purpose of this work was to review the studies published over the last 10 years concerning the prevalence of retinopathy of prematurity (ROP in Latin American countries, to determine if there was an improvement in ROP prevalence rates in that period, and to identify the inclusion criteria for patients at risk of developing ROP in the screening programs. A total of 33 studies from ten countries published between 2000 and 2010 were reviewed. Prevalence of any ROP stage in the regions considered ranged from 6.6% to 82%; ROP severe enough to require treatment ranged from 1.2% to 23.8%. There was no routine screening for ROP, and there was a lack of services for treatment of the disease in many countries. Inclusion criteria for patients in the studies ranged between birth weight ≤1500 g and ≤2000 g and gestational age ≤32 and <37 weeks. Use of different inclusion criteria regarding birth weight and gestational age in several Latin American studies hindered comparative analysis of the published data. Highly restrictive selection criteria for ROP screening in relation to birth weight and gestational age should not be used throughout most Latin American countries because of their different social characteristics and variable neonatal care procedures. The studies included in this review failed to provide adequate information to determine if the prevalence of ROP

  20. Impact of enteral protein supplementation in premature infants

    Directory of Open Access Journals (Sweden)

    Barrus DM

    2012-06-01

    Full Text Available David M Barrus1, Joann Romano-Keeler2, Christopher Carr3, Kira Segebarth4, Betty Claxton2, William F Walsh2, Paul J Flakoll51Department of Neonatology, Saint Francis Hospital–Bartlett, Memphis, TN, 2Department of Pediatrics, Vanderbilt Medical Center, Nashville, TN, 3Department of Surgery, Naval Hospital Bremerton, Bremerton, WA, 4Pediatric and Diabetes Specialists, Carolinas Medical Center, Charlotte, NC, 5Department of Surgery, Vanderbilt Medical Center, Nashville, TN, USAObjective: The quantity of enteral protein supplementation required by premature infants to optimize growth has not been determined. This study compares the growth of premature infants fed the current standard intake of protein (3.5 g/kg/day with the growth of those fed a higher amount (4.0 g/kg/day.Study design: Fifty-two infants <1500 g and <33 weeks gestational age participated in a blinded, single-center, prospective randomized control trial to compare growth between two groups of different protein-intake levels. Primary outcomes were average daily weight gain (g/kg/day, head-circumference (cm/kg/week and linear growth velocity (cm/kg/week. Secondary outcomes were serum indices of protein tolerance and plasma amino acid concentrations.Results: Infants receiving higher amounts of protein had higher rates of growth for body weight (18.2 ± 0.7 versus 16.2 ± 1.0 g/kg/day; P < 0.05 and head circumference (0.87 ± 0.08 versus 0.62 ± 0.07 cm/kg/week; P < 0.05, with no differences in blood protein or plasma amino acid concentrations. Length of hospital stay was 14 days shorter for the higher-protein group (51.4 ± 4.0 versus 65.9 ± 6.3 days.Conclusion: Increasing premature infant enteral protein supplementation from a calculated intake of 3.5–4.0 g/kg/day improved growth in a safe manner.Keywords: human milk, human milk fortifier, growth, low birth weight