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 ...

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.

Ichthyosis prematurity syndrome: a well-defined congenital ichthyosis subtype

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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....

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.

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.

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.

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

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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.

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)

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.

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

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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

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

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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.

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

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

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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.

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.

Congenital staphylococcal scalded skin syndrome in a premature infant

NARCIS (Netherlands)

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

2004-01-01

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

Prostate Cancer Diagnostics and Prognostics Based on Interphase Spatial Genome Positioning

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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

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

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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.

NF-κB activation impairs somatic cell reprogramming in ageing.

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Soria-Valles, Clara; Osorio, Fernando G; Gutiérrez-Fernández, Ana; De Los Angeles, Alejandro; Bueno, Clara; Menéndez, Pablo; Martín-Subero, José I; Daley, George Q; Freije, José M P; López-Otín, Carlos

2015-08-01

Ageing constitutes a critical impediment to somatic cell reprogramming. We have explored the regulatory mechanisms that constitute age-associated barriers, through derivation of induced pluripotent stem cells (iPSCs) from individuals with premature or physiological ageing. We demonstrate that NF-κB activation blocks the generation of iPSCs in ageing. We also show that NF-κB repression occurs during cell reprogramming towards a pluripotent state. Conversely, ageing-associated NF-κB hyperactivation impairs the generation of iPSCs by eliciting the reprogramming repressor DOT1L, which reinforces senescence signals and downregulates pluripotency genes. Genetic and pharmacological NF-κB inhibitory strategies significantly increase the reprogramming efficiency of fibroblasts from Néstor-Guillermo progeria syndrome and Hutchinson-Gilford progeria syndrome patients, as well as from normal aged donors. Finally, we demonstrate that DOT1L inhibition in vivo extends lifespan and ameliorates the accelerated ageing phenotype of progeroid mice, supporting the interest of studying age-associated molecular impairments to identify targets of rejuvenation strategies.

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

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

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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

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

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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.

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

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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.

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

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.

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

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

Premature infant

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... 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 ...

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.

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.

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

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...

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

Frequency of neonatal complications after premature delivery

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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.

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.

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.

Preterm labor and premature birth: Are you at risk?

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... 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 ...

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

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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.

Premature ovarian failure

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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.

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.

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

'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.

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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.

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

[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.

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

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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.

Aggressive Posterior Retinopathy of Prematurity in a Premature Male Infant

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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.

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...

[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.

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

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.

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.

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.

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.

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

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Akira Shimamoto

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

case report: Werner’s Syndrome

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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

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.

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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.

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.

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.

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...

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...

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.)

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.

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.

Antenatal Bartter syndrome.

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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.

Analysis on screening results of 2 203 premature infants with retinopathy

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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.

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.

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

Patent Ductus Arteriosus in Premature Neonates

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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

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

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)

Mitotic defects lead to pervasive aneuploidy and accompany loss of RB1 activity in mouse LmnaDhe dermal fibroblasts.

Directory of Open Access Journals (Sweden)

C Herbert Pratt

2011-03-01

Full Text Available Lamin A (LMNA is a component of the nuclear lamina and is mutated in several human diseases, including Emery-Dreifuss muscular dystrophy (EDMD; OMIM ID# 181350 and the premature aging syndrome Hutchinson-Gilford progeria syndrome (HGPS; OMIM ID# 176670. Cells from progeria patients exhibit cell cycle defects in both interphase and mitosis. Mouse models with loss of LMNA function have reduced Retinoblastoma protein (RB1 activity, leading to aberrant cell cycle control in interphase, but how mitosis is affected by LMNA is not well understood.We examined the cell cycle and structural phenotypes of cells from mice with the Lmna allele, Disheveled hair and ears (Lmna(Dhe. We found that dermal fibroblasts from heterozygous Lmna(Dhe (Lmna(Dhe/+ mice exhibit many phenotypes of human laminopathy cells. These include severe perturbations to the nuclear shape and lamina, increased DNA damage, and slow growth rates due to mitotic delay. Interestingly, Lmna(Dhe/+ fibroblasts also had reduced levels of hypophosphorylated RB1 and the non-SMC condensin II-subunit D3 (NCAP-D3, a mitosis specific centromere condensin subunit that depends on RB1 activity. Mitotic check point control by mitotic arrest deficient-like 1 (MAD2L1 also was perturbed in Lmna(Dhe/+ cells. Lmna(Dhe/+ fibroblasts were consistently aneuploid and had higher levels of micronuclei and anaphase bridges than normal fibroblasts, consistent with chromosome segregation defects.These data indicate that RB1 may be a key regulator of cellular phenotype in laminopathy-related cells, and suggest that the effects of LMNA on RB1 include both interphase and mitotic cell cycle control.

Mitotic Defects Lead to Pervasive Aneuploidy and Accompany Loss of RB1 Activity in Mouse LmnaDhe Dermal Fibroblasts

Science.gov (United States)

Pratt, C. Herbert; Curtain, Michelle; Donahue, Leah Rae; Shopland, Lindsay S.

2011-01-01

Background Lamin A (LMNA) is a component of the nuclear lamina and is mutated in several human diseases, including Emery-Dreifuss muscular dystrophy (EDMD; OMIM ID# 181350) and the premature aging syndrome Hutchinson-Gilford progeria syndrome (HGPS; OMIM ID# 176670). Cells from progeria patients exhibit cell cycle defects in both interphase and mitosis. Mouse models with loss of LMNA function have reduced Retinoblastoma protein (RB1) activity, leading to aberrant cell cycle control in interphase, but how mitosis is affected by LMNA is not well understood. Results We examined the cell cycle and structural phenotypes of cells from mice with the Lmna allele, Disheveled hair and ears (LmnaDhe). We found that dermal fibroblasts from heterozygous LmnaDhe (LmnaDhe/+) mice exhibit many phenotypes of human laminopathy cells. These include severe perturbations to the nuclear shape and lamina, increased DNA damage, and slow growth rates due to mitotic delay. Interestingly, LmnaDhe/+ fibroblasts also had reduced levels of hypophosphorylated RB1 and the non-SMC condensin II-subunit D3 (NCAP-D3), a mitosis specific centromere condensin subunit that depends on RB1 activity. Mitotic check point control by mitotic arrest deficient-like 1 (MAD2L1) also was perturbed in LmnaDhe /+ cells. LmnaDhe /+ fibroblasts were consistently aneuploid and had higher levels of micronuclei and anaphase bridges than normal fibroblasts, consistent with chromosome segregation defects. Conclusions These data indicate that RB1 may be a key regulator of cellular phenotype in laminopathy-related cells, and suggest that the effects of LMNA on RB1 include both interphase and mitotic cell cycle control. PMID:21464947

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...

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.

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.

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.

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...

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.

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.

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

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 ...

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.

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.

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

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.)

RESEARCH ON REDUCING PREMATURITY RUPTURE OF MEMBRANE

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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

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

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

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, ...

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.

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.

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.

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…

Structure of the lamin A/C R482W mutant responsible for dominant familial partial lipodystrophy (FPLD)

Energy Technology Data Exchange (ETDEWEB)

Magracheva, Eugenia; Kozlov, Serguei; Stewart, Colin L.; Wlodawer, Alexander; Zdanov, Alexander; (NCI)

2009-08-07

Proteins of the A-type lamin family, which consists of two members, lamin A and lamin C, are the major components of a thin proteinaceous filamentous meshwork, the lamina, that underlies the inner nuclear membrane. A-type lamins have recently become the focus of extensive functional studies as a consequence of the linking of at least eight congenital diseases to mutations in the lamin A/C gene (LMNA). This spectrum of pathologies, which mostly manifest themselves as dominant traits, includes muscle dystrophies, dilated cardiomyopathies, the premature aging syndrome Hutchinson-Guilford progeria and familial partial lipodystrophy (FPLD). The crystal structure of the lamin A/C mutant R482W, a variant that causes FPLD, has been determined at 1.5 {angstrom} resolution. A completely novel aggregation state of the C-terminal globular domain and the position of the mutated amino-acid residue suggest means by which the mutation may affect lamin A/C-protein and protein-DNA interactions.

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 ...

Turner Syndrome

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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

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

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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.

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

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.

Subpleural lung cysts in Down syndrome: prevalence and association with coexisting diagnoses

Energy Technology Data Exchange (ETDEWEB)

Biko, David M. [Pennsylvania Hospital, Department of Radiology, Philadelphia, PA (United States); Schwartz, Michael; Anupindi, Sudha A. [Children' s Hospital of Philadelphia, Philadelphia, PA (United States); Altes, Talissa A. [Children' s Hospital of Philadelphia, Philadelphia, PA (United States); University of Virginia, Charlottesville, VA (United States)

2008-03-15

Although subpleural cysts are known to be associated with Down syndrome, their etiology and prevalence remains unknown. To determine the prevalence of subpleural cysts in children with Down syndrome and the association with prematurity, congenital heart disease (CHD), extracorporeal membrane oxygenation (ECMO), and chronic ventilator support. A review of the CT examinations of 25 children with Down syndrome was performed to determine the presence, location, and distribution of cysts along with associated abnormalities. Charts were reviewed and coexistent diagnoses and past treatments were recorded. The prevalence of subpleural cysts was 36% with no significant association with CHD, ECMO, or chronic ventilator support. An association was found in the two children with a history of prematurity. The cysts were most commonly found in the anteromedial portion of the lung. Subpleural cysts are common in Down syndrome and should not be confused with another pathological process. An association with prematurity was found, but the low number of children in this study makes the connection uncertain. The etiology remains unclear, but it has been hypothesized that the cysts are associated with lung hypoplasia. (orig.)

Subpleural lung cysts in Down syndrome: prevalence and association with coexisting diagnoses

International Nuclear Information System (INIS)

Biko, David M.; Schwartz, Michael; Anupindi, Sudha A.; Altes, Talissa A.

2008-01-01

Although subpleural cysts are known to be associated with Down syndrome, their etiology and prevalence remains unknown. To determine the prevalence of subpleural cysts in children with Down syndrome and the association with prematurity, congenital heart disease (CHD), extracorporeal membrane oxygenation (ECMO), and chronic ventilator support. A review of the CT examinations of 25 children with Down syndrome was performed to determine the presence, location, and distribution of cysts along with associated abnormalities. Charts were reviewed and coexistent diagnoses and past treatments were recorded. The prevalence of subpleural cysts was 36% with no significant association with CHD, ECMO, or chronic ventilator support. An association was found in the two children with a history of prematurity. The cysts were most commonly found in the anteromedial portion of the lung. Subpleural cysts are common in Down syndrome and should not be confused with another pathological process. An association with prematurity was found, but the low number of children in this study makes the connection uncertain. The etiology remains unclear, but it has been hypothesized that the cysts are associated with lung hypoplasia. (orig.)

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

[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.

[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.

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 ...

[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.

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.

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.

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.

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 ...

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....

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.

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

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

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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.

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

Sister chromatid exchanges in X-ray irradiated blood lymphocytes from patients with hereditary diseases with radioresistant DNA synthesis

International Nuclear Information System (INIS)

Pleskach, N.M.; Andriadze, M.I.; Mikhel'son, V.M.; Zhestyanikov, V.D.

1988-01-01

X-ray irradiation induced sister chromatid exchanges (SCE) in blood lymphocytes from patient with Down's syndrome and adult progeria (in both the cases radioresistant DNA synthesis takes place). In normal lymphocytes (in which ionizing radiation inhibits the replicative synthesis of DNA) the rate of SCE rises with the rise of radiation dose. Thus, the rate of SCE in X-ray irradiated lymphocytes is in reverse dependence with radioresistance of replicative synthesis of DNA. The data obtained are explained in accordance with the replicative hypothesis of the SCE nature (Painter, 1980a): in cells of patients with Down's syndrome, xeroderma pigmentosum from 2 and progeria of adults the time of existence of partly replicated clusters of replicons is decreased due to radioresistant replicative synthesis of DNA, but the presence of partly replicated clusters of replicons in necessary for SCE formation. Therefore the rate of SCF in X-irradiated cells of these patients decreases

FOETOMATERNAL AND NEONATAL OUTCOME OF PRETERM PREMATURE RUPTURE OF MEMBRANES

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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

Accelerated Vascular Aging as a Paradigm for Hypertensive Vascular Disease: Prevention and Therapy.

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Barton, Matthias; Husmann, Marc; Meyer, Matthias R

2016-05-01

Aging is considered the most important nonmodifiable risk factor for cardiovascular disease and death after age 28 years. Because of demographic changes the world population is expected to increase to 9 billion by the year 2050 and up to 12 billion by 2100, with several-fold increases among those 65 years of age and older. Healthy aging and prevention of aging-related diseases and associated health costs have become part of political agendas of governments around the world. Atherosclerotic vascular burden increases with age; accordingly, patients with progeria (premature aging) syndromes die from myocardial infarctions or stroke as teenagers or young adults. The incidence and prevalence of arterial hypertension also increases with age. Arterial hypertension-like diabetes and chronic renal failure-shares numerous pathologies and underlying mechanisms with the vascular aging process. In this article, we review how arterial hypertension resembles premature vascular aging, including the mechanisms by which arterial hypertension (as well as other risk factors such as diabetes mellitus, dyslipidemia, or chronic renal failure) accelerates the vascular aging process. We will also address the importance of cardiovascular risk factor control-including antihypertensive therapy-as a powerful intervention to interfere with premature vascular aging to reduce the age-associated prevalence of diseases such as myocardial infarction, heart failure, hypertensive nephropathy, and vascular dementia due to cerebrovascular disease. Finally, we will discuss the implementation of endothelial therapy, which aims at active patient participation to improve primary and secondary prevention of cardiovascular disease. Copyright © 2016 Canadian Cardiovascular Society. Published by Elsevier Inc. All rights reserved.

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

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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.

Early orthodontic management of Crouzon Syndrome: a case report.

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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.

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

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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…

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

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...

Lemierre's Syndrome Complicating Pregnancy

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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.

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

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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.

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

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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.

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

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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.

Drug treatment of metabolic syndrome.

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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.

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.

CROUZON SYNDROME: A CASE REPORT

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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.

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...

Family Perspectives on Prematurity

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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…

Prenatal stress, prematurity and asthma

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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

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)

Human lipodystrophies: genetic and acquired diseases of adipose tissue

Science.gov (United States)

Capeau, Jacqueline; Magré, Jocelyne; Caron-Debarle, Martine; Lagathu, Claire; Antoine, Bénédicte; Béréziat, Véronique; Lascols, Olivier; Bastard, Jean-Philippe; Vigouroux, Corinne

2010-01-01

Human lipodystrophies represent a heterogeneous group of diseases characterized by generalized or partial fat loss, with fat hypertrophy in other depots when partial. Insulin resistance, dyslipidemia and diabetes are generally associated, leading to early complications. Genetic forms are uncommon: recessive generalized congenital lipodystrophies result in most cases from mutations in the genes encoding seipin or the 1-acyl-glycerol-3-phosphate-acyltransferase 2 (AGPAT2). Dominant partial familial lipodystrophies result from mutations in genes encoding the nuclear protein lamin A/C or the adipose transcription factor PPARγ. Importantly, lamin A/C mutations are also responsible for metabolic laminopathies, resembling the metabolic syndrome and progeria, a syndrome of premature aging. A number of lipodystrophic patients remain undiagnosed at the genetic level. Acquired lipodystrophy can be generalized, resembling congenital forms, or partial, as the Barraquer-Simons syndrome, with loss of fat in the upper part of the body contrasting with accumulation in the lower part. Although their aetiology is generally unknown, they could be associated with signs of auto-immunity. The most common forms of lipodystrophies are iatrogenic. In human immunodeficiency virus-infected patients, some first generation antiretroviral drugs were strongly related with peripheral lipoatrophy and metabolic alterations. Partial lipodystrophy also characterize patients with endogenous or exogenous long-term corticoid excess. Treatment of fat redistribution can sometimes benefit from plastic surgery. Lipid and glucose alterations are difficult to control leading to early occurrence of diabetic, cardio-vascular and hepatic complications. PMID:20551664

Your Premature Baby: Low Birthweight

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... 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 ...

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 ...

Recurrent urinary tract infections in an infant with antenatal Bartter syndrome.

Science.gov (United States)

Tasic, Velibor; Pota, Liljana; Gucev, Zoran

2011-02-01

antenatal variant of Bartter syndrome is characterized by a history of polyhydramnios, premature birth, metabolic alkalosis, hypokalemia, polyuria and renal salt wasting. In this report we present a premature female baby with antenatal Barter syndrome who had three episodes of urinary tract infection (UTI), without evidence for congenital anomaly of the kidneys or urinary tract. antenatal Bartter syndrome was diagnosed according to the standard criteria. Ultrasound scan and voiding cystourethrography were performed to exclude congenital anomaly of the kidneys and urinary tract. the baby presented with early hyperkalemia and acidosis. The typical biochemical features of the Bartter syndrome were observed in the second month. Despite appropriate treatment she had persistent hypercalciuria. The clinical course was complicated with recurrent episodes of febrile UTIs. Urinary tract system imaging did not demonstrate congenital anomalies. She finally died of severe dehydration, acidosis and renal failure. since no congenital anomaly of the kidneys or urinary tract was demonstrated in our patient, we believe that severe, persistent hypercalciuria is the most important risk factor for development of recurrent UTIs.

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

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.

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

Premature menopause linked to CVD and osteoporosis.

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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.

Antenatal Bartter Syndrome: A Review

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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.

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

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

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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...

Human milk for the premature infant

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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

Multimodality cardiac imaging in Turner syndrome.

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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.

Ursodeoxycholic acid treatment of vanishing bile duct syndromes

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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

Syndromes with supernumerary teeth.

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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.

Premature infants' health at multiple induced pregnancy.

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Chernenkov Yu.V.

2015-09-01

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

7 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...

xidative Stress and Retinopathy of Prematurity

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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...

Educational paper: Retinopathy of prematurity.

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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.

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

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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.

Autoimmune premature ovarian failure

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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.

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

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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.

Prematurity Affects Age of Presentation of Pyloric Stenosis.

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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.

Polyhydramnios, Transient Antenatal Bartter's Syndrome, and MAGED2 Mutations

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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

Prematurity, atopy, and childhood asthma in Puerto Ricans.

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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.

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

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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

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.

Mandibulo-acral dysplasia

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Hoeffel, J.C.; Mainard, L. [Dept. of Radiology, Children' s Hospital, Vandoeuvre (France); Chastagner, P. [Dept. of Medicine, Children' s Hospital, Vandoeuvre (France); Hoeffel, C.C. [UFR Faculte de Medecine Cochin, Paris (France)

2000-11-01

We report on a 7 year-old-girl with mandibulo-acral dysplasia. When she was 3 years of age it mimicked scleroderma because of skin atrophy and later on a Hutchinson-Gilford progeria syndrome (HGP). Acro-mandibular dysplasia was diagnosed because of facial hypoplasia and mandibular hypoplasia. The bilateral proximal mid-humeral notch seen in this case is unusual. (orig.)

Premature Ejaculation

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... 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 ...

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.)

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

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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.

The effects of Fetal Surgery on Retinopathy of Prematurity Development

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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.

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

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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.

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.

Mortality risk in a nationwide cohort of individuals with tic disorders and with tourette syndrome.

Science.gov (United States)

Meier, Sandra M; Dalsgaard, Søren; Mortensen, Preben B; Leckman, James F; Plessen, Kerstin J

2017-04-01

Few studies have investigated mortality risk in individuals with tic disorders. We thus measured the risk of premature death in individuals with tic disorders and with Tourette syndrome in a prospective cohort study with 80 million person-years of follow-up. We estimated mortality rate ratios and adjusted for calendar year, age, sex, urbanicity, maternal and paternal age, and psychiatric disorders to compare individuals with and without tic disorders. The risk of premature death was higher among individuals with tic disorders (mortality rate ratio, 2.02; 95% CI, 1.49-2.66) and with Tourette syndrome (mortality rate ratio, 1.63; 95% CI, 1.11-2.28) compared with controls. After the exclusion of individuals with comorbid attention-deficit/hyperactivity disorder, obsessive-compulsive disorder, and substance abuse, tic disorder remained associated with increased mortality risk (mortality rate ratio, 2.30; 95% CI, 1.57-3.23), as did also Tourette Syndrome (mortality rate ratio, 1.81; 95% CI, 1.11-2.75). These results are of clinical significance for clinicians and advocacy organizations. Several factors may contribute to this increased risk of premature death, and more research mapping out these factors is needed. © 2017 International Parkinson and Movement Disorder Society. © 2017 International Parkinson and Movement Disorder Society.

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.

Parametric imaging of experimentally simulated Wolff-Parkinson-White syndrome conduction abnormalities in dogs: a concise communication

Energy Technology Data Exchange (ETDEWEB)

Weismueller, P.H.; Henze, E.; Adam, W.E.; Roth, J.; Bitter, F.; Stauch, M.

1986-01-01

In order to test the diagnostic potential of phase analysis of radionuclide ventriculography (RNV) for localizing accessory bundles in Wolff-Parkinson-White (WPW) syndrome, 24 experimental runs were performed in three open chest instrumented dogs. After a baseline study, WPW syndrome was simulated by stimulation at seven different sites around the base of the ventricles, and RNV's were obtained. Subsequent data processing including Fourier transformation allowed the localization of the site of the first inward motion of the ventricles by an isophasic wave display. In sinus rhythm, the septum contracted first. During ectopic premature ventricular stimulation by triggering the atrial signal, the phase scan was altered only when the stimulus was applied earlier than 20 ms before the expected QRS complex during sinus rhythm. During stimulation with fixed frequency, only the left lateral positions of the premature stimulation were detected by phase analysis with a sensitivity of 86%. Neither the antero- or posteroseptal nor the right ventricular premature contraction pattern could be exactly localized.

Parametric imaging of experimentally simulated Wolff-Parkinson-White syndrome conduction abnormalities in dogs: a concise communication

International Nuclear Information System (INIS)

Weismueller, P.H.; Henze, E.; Adam, W.E.; Roth, J.; Bitter, F.; Stauch, M.

1986-01-01

In order to test the diagnostic potential of phase analysis of radionuclide ventriculography (RNV) for localizing accessory bundles in Wolff-Parkinson-White (WPW) syndrome, 24 experimental runs were performed in three open chest instrumented dogs. After a baseline study, WPW syndrome was simulated by stimulation at seven different sites around the base of the ventricles, and RNV's were obtained. Subsequent data processing including Fourier transformation allowed the localization of the site of the first inward motion of the ventricles by an isophasic wave display. In sinus rhythm, the septum contracted first. During ectopic premature ventricular stimulation by triggering the atrial signal, the phase scan was altered only when the stimulus was applied earlier than 20 ms before the expected QRS complex during sinus rhythm. During stimulation with fixed frequency, only the left lateral positions of the premature stimulation were detected by phase analysis with a sensitivity of 86%. Neither the antero- or posteroseptal nor the right ventricular premature contraction pattern could be exactly localized

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.

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.

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

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

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.)

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.

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.

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...

Risk Factors for premature birth in a hospital

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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.

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.

Diagnostic Overlap between Fanconi Anemia and the Cohesinopathies: Roberts Syndrome and Warsaw Breakage Syndrome

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Petra van der Lelij

2010-01-01

Full Text Available Fanconi anemia (FA is a recessively inherited disease characterized by multiple symptoms including growth retardation, skeletal abnormalities, and bone marrow failure. The FA diagnosis is complicated due to the fact that the clinical manifestations are both diverse and variable. A chromosomal breakage test using a DNA cross-linking agent, in which cells from an FA patient typically exhibit an extraordinarily sensitive response, has been considered the gold standard for the ultimate diagnosis of FA. In the majority of FA patients the test results are unambiguous, although in some cases the presence of hematopoietic mosaicism may complicate interpretation of the data. However, some diagnostic overlap with other syndromes has previously been noted in cases with Nijmegen breakage syndrome. Here we present results showing that misdiagnosis may also occur with patients suffering from two of the three currently known cohesinopathies, that is, Roberts syndrome (RBS and Warsaw breakage syndrome (WABS. This complication may be avoided by scoring metaphase chromosomes—in addition to chromosomal breakage—for spontaneously occurring premature centromere division, which is characteristic for RBS and WABS, but not for FA.

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

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.)

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

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.

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

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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.

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)

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.

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.

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. 

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.

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.

Optimal oxygen saturation in premature infants

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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.

Premature adrenarche: novel lessons from early onset androgen excess.

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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.

Radiation injuries to chromosomes in lymphocytes of patients with hereditary diseases

Energy Technology Data Exchange (ETDEWEB)

Khandogina, E K; Mutovin, G R; Filyushkin, I V; Akif' ev, A P

1980-02-01

The authors studied dose dependences of the output of choromosomal aberrations in peripheral blood lymphocytes during ..gamma..-irradiation in vitro in patients with Parkinson's syndrome, in a patient with progeria, in a child with translocational Down's syndrome and his mother, phenotypically normal woman, with translocation, and also in control donors. Irradiation was conducted up to the stimulation with PHA (stage Go) from the source /sup 60/Co in the dose range of 0.25-3.0 Gy. It was established that the output of metabolic aberrations is depicted by the linear-quadratic function of the dose better than by the grade one. The lymphocytes of one of the female patients with Parkinson's syndrome suffering from papilloma of the larynx showed an increase in the spontaneous level of chromosomal abberrations and also a tendency to an increase in the fragment output in comparison with the control. The lymphocytes of the patient with progeria showed an insignificantly increased spontaneous level of chromosomal aberrations and a considerable increase in the output of radiation-induced exchanges. In the child with translocational Down's syndrome the output of radiation-induced exchanges was increased in comparison with control, mainly with doses less than 1 Gy and in the lymphocytes of the woman with translocation the output of fragments was increased. In both cases the increase in the spontaneous level of aberrations was observed. A relationship between increased radiosensitivity and the inclusion of patients into a high risk group with reference to a relative increase in the incidence of malignant neoplasms and reduced life span is discussed.

Radiation injuries to chromosomes in lymphocytes of patients with hereditary diseases

International Nuclear Information System (INIS)

Khandogina, E.K.; Mutovin, G.R.; Filyushkin, I.V.; Akif'ev, A.P.

1980-01-01

The authors studied dose dependences of the output of choromosomal aberrations in peripheral blood lymphocytes during γ-irradiation in vitro in patients with Parkinson's syndrome, in a patient with progeria, in a child with translocational Down's syndrome and his mother, phenotypically normal woman, with translocation, and also in control donors. Irradiation was conducted up to the stimulation with PHA (stage Go) from the source 60 Co in the dose range of 0.25-3.0 Gy. It was established that the output of metabolic aberrations is depicted by the linear-quadratic function of the dose better than by the grade one. The lymphocytes of one of the female patients with Parkinson's syndrome suffering from papilloma of the larynx showed an increase in the spontaneous level of chromosomal abberrations and also a tendency to an increase in the fragment output in comparison with the control. The lymphocytes of the patient with progeria showed an insignificantly increased spontaneous level of chromosomal aberrations and a considerable increase in the output of radiation-induced exchanges. In the child with translocational Down's syndrome the output of radiation-induced exchanges was increased in comparison with control, mainly with doses less than 1 Gy and in the lymphocytes of the woman with translocation the output of fragments was increased. In both cases the increase in the spontaneous level of aberrations was observed. A relationship between increased radiosensitivity and the inclusion of patients into a high risk group with reference to a relative increase in the incidence of malignant neoplasms and reduced life span is discussed

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

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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.

[Family participation in premature care in neonatal ICU].

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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.

Risk Factors for premature birth in a hospital 1

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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

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

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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.

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

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Kotowski Maciej

2012-09-01

Full Text Available Abstract Background The frequency of preterm labour has risen over the last few years. Hence, there is growing interest in the identification of markers that may facilitate prediction and prevention of premature birth complications. Here, we studied the association of the number of circulating stem cell populations with the incidence of complications typical of prematurity. Methods The study groups consisted of 90 preterm (23–36 weeks of gestational age and 52 full-term (37–41 weeks infants. Non-hematopoietic stem cells (non-HSCs; CD45-lin-CD184+, enriched in very small embryonic-like stem cells (VSELs, expressing pluripotent (Oct-4, Nanog, early neural (β-III-tubulin, and oligodendrocyte lineage (Olig-1 genes as well as hematopoietic stem cells (HSCs; CD45+lin-CD184+, and circulating stem/progenitor cells (CSPCs; CD133+CD34+; CD133-CD34+ in association with characteristics of prematurity and preterm morbidity were analyzed in cord blood (CB and peripheral blood (PB until the sixth week after delivery. Phenotype analysis was performed using flow cytometry methods. Clonogenic assays suitable for detection of human hematopoietic progenitor cells were also applied. The quantitative parameters were compared between groups by the Mann–Whitney test and between time points by the Friedman test. Fisher’s exact test was used for qualitative variables. Results We found that the number of CB non-HSCs/VSELs is inversely associated with the birth weight of preterm infants. More notably, a high number of CB HSCs is strongly associated with a lower risk of prematurity complications including intraventricular hemorrhage, respiratory distress syndrome, infections, and anemia. The number of HSCs remains stable for the first six weeks of postnatal life. Besides, the number of CSPCs in CB is significantly higher in preterm infants than in full-term neonates (p  Conclusion We conclude that CB HSCs are markedly associated with the development of premature

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.

Premature ejaculation: A clinical review for the general physician.

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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.

Pregnancy outcome in joint hypermobility syndrome and Ehlers-Danlos syndrome.

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Sundelin, Heléne E K; Stephansson, Olof; Johansson, Kari; Ludvigsson, Jonas F

2017-01-01

An increased risk of preterm birth in women with joint hypermobility syndrome or Ehlers-Danlos syndrome is suspected. In this nationwide cohort study from 1997 through 2011, women with either joint hypermobility syndrome or Ehlers-Danlos syndrome or both disorders were identified through the Swedish Patient Register, and linked to the Medical Birth Register. Thereby, 314 singleton births to women with joint hypermobility syndrome/Ehlers-Danlos syndrome before delivery were identified. These births were compared with 1 247 864 singleton births to women without a diagnosis of joint hypermobility syndrome/Ehlers-Danlos syndrome. We used logistic regression, adjusted for maternal age, smoking, parity, and year of birth, to calculate adjusted odds ratios for adverse pregnancy outcomes. Maternal joint hypermobility syndrome/Ehlers-Danlos syndrome was not associated with any of our outcomes: preterm birth (adjusted odds ratio = 0.6, 95% confidence interval 0.3-1.2), preterm premature rupture of membranes (adjusted odds ratio = 0.8; 95% confidence interval 0.3-2.2), cesarean section (adjusted odds ratio = 0.9, 95% confidence interval 0.7-1.2), stillbirth (adjusted odds ratio = 1.1, 95% confidence interval 0.2-7.9), low Apgar score (adjusted odds ratio = 1.6, 95% confidence interval 0.7-3.6), small for gestational age (adjusted odds ratio = 0.9, 95% confidence interval 0.4-1.8) or large for gestational age (adjusted odds ratio = 1.2, 95% confidence interval 0.6-2.1). Examining only women with Ehlers-Danlos syndrome (n = 62), we found a higher risk of induction of labor (adjusted odds ratio = 2.6; 95% confidence interval 1.4-4.6) and amniotomy (adjusted odds ratio = 3.8; 95% confidence interval 2.0-7.1). No excess risks for adverse pregnancy outcome were seen in joint hypermobility syndrome. Women with joint hypermobility syndrome/Ehlers-Danlos syndrome do not seem to be at increased risk of adverse pregnancy outcome. © 2016 Nordic Federation of

Retinopathy of prematurity: an epidemic in the making.

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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

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

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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.

Hemophagocytic syndrome secondary to tuberculosis at 24-week gestation.

Science.gov (United States)

Fernández, Alexandra Arteaga; de Velasco Pérez, David Fernández; Fournier, M C Jiménez; Moreno Del Prado, J C; Torras, B Paraíso; Cañete Palomo, M L

2017-01-01

Hemophagocytic syndrome is a life-threatening disease characterized by the uncontrolled activation of macrophages, resulting in hemophagocytosis of blood cells in the bone marrow. A 20-year-old gravida at 23-week and 5-day gestation was admitted to hospital to evaluate fever up to 104°F of unknown origin, moderate cytopenia, and elevated levels of liver enzymes. Bone marrow biopsy confirmed hemophagocytic syndrome, and polymerase chain reaction came back positive for Mycobacterium tuberculosis. Supportive care and tuberculosis treatment resulted in clinical improvement. At 27 weeks and 5 days, premature rupture of the membranes occurred, and because of the high probability of reactivating the hemophagocytic syndrome, a cesarean section was performed at 29-week and 2-day gestation. Hemophagocytic syndrome is an uncommon disease which rarely appears during pregnancy. Early diagnosis and treatment can save both maternal and fetal lives.

[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

Nuclear protein import is reduced in cells expressing nuclear envelopathy-causing lamin A mutants

International Nuclear Information System (INIS)

Busch, Albert; Kiel, Tilman; Heupel, Wolfgang-M.; Wehnert, Manfred; Huebner, Stefan

2009-01-01

Lamins, which form the nuclear lamina, not only constitute an important determinant of nuclear architecture, but additionally play essential roles in many nuclear functions. Mutations in A-type lamins cause a wide range of human genetic disorders (laminopathies). The importance of lamin A (LaA) in the spatial arrangement of nuclear pore complexes (NPCs) prompted us to study the role of LaA mutants in nuclear protein transport. Two mutants, causing prenatal skin disease restrictive dermopathy (RD) and the premature aging disease Hutchinson Gilford progeria syndrome, were used for expression in HeLa cells to investigate their impact on the subcellular localization of NPC-associated proteins and nuclear protein import. Furthermore, dynamics of the LaA mutants within the nuclear lamina were studied. We observed affected localization of NPC-associated proteins, diminished lamina dynamics for both LaA mutants and reduced nuclear import of representative cargo molecules. Intriguingly, both LaA mutants displayed similar effects on nuclear morphology and functions, despite their differences in disease severity. Reduced nuclear protein import was also seen in RD fibroblasts and impaired lamina dynamics for the nucleoporin Nup153. Our data thus represent the first study of a direct link between LaA mutant expression and reduced nuclear protein import.

Zmpste24-/- mouse model for senescent wound healing research.

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Butala, Parag; Szpalski, Caroline; Soares, Marc; Davidson, Edward H; Knobel, Denis; Warren, Stephen M

2012-12-01

The graying of our population has motivated the authors to better understand age-related impairments in wound healing. To increase research throughput, the authors hypothesized that the Hutchinson-Gilford progeria syndrome Zmpste24-deficient (Zmpste24(-/-)) mouse could serve as a model of senescent wound healing. Using a stented excisional wound closure model, the authors tested this hypothesis on 8-week-old male Zmpste24(-/-) mice (n = 25) and age-matched male C57BL/6J wild-type mice (n = 25). Wounds were measured photogrammetrically and harvested for immunohistochemistry, enzyme-linked immunosorbent assay, and quantitative real-time polymerase chain reaction, and circulating vasculogenic progenitor cells were measured by flow cytometry. Zmpste24(-/-) mice had a significant delay in wound closure compared with wild-type mice during the proliferative/vasculogenic phase. Zmpste24(-/-) wounds had decreased proliferation, increased 8-hydroxy-2'-deoxyguanosine levels, increased proapoptotic signaling (i.e., p53, PUMA, BAX), decreased antiapoptotic signaling (i.e., Bcl-2), and increased DNA fragmentation. These changes correlated with decreased local vasculogenic growth factor expression, decreased mobilization of bone marrow-derived vasculogenic progenitor cells, and decreased new blood vessel formation. Age-related impairments in wound closure are multifactorial. The authors' data suggest that the Hutchinson-Gilford progeria syndrome Zmpste24(-/-) progeroid syndrome shares mechanistic overlap with normal aging and therefore might provide a uniquely informative model with which to study age-associated impairments in wound closure.

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.

Adequacy of published screening criteria for retinopathy of prematurity.

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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.

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.

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.

Mortality risk in a nationwide cohort of individuals with tic disorders and with tourette syndrome

DEFF Research Database (Denmark)

Meier, Sandra M; Dalsgaard, Søren; Mortensen, Preben B

2017-01-01

BACKGROUND: Few studies have investigated mortality risk in individuals with tic disorders. METHODS: We thus measured the risk of premature death in individuals with tic disorders and with Tourette syndrome in a prospective cohort study with 80 million person-years of follow-up. We estimated...... mortality rate ratios and adjusted for calendar year, age, sex, urbanicity, maternal and paternal age, and psychiatric disorders to compare individuals with and without tic disorders. RESULTS: The risk of premature death was higher among individuals with tic disorders (mortality rate ratio, 2.02; 95% CI, 1.......49-2.66) and with Tourette syndrome (mortality rate ratio, 1.63; 95% CI, 1.11-2.28) compared with controls. After the exclusion of individuals with comorbid attention-deficit/hyperactivity disorder, obsessive-compulsive disorder, and substance abuse, tic disorder remained associated with increased mortality risk (mortality...

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.

WERNER SYNDROME: A NEW CASE REPORT

Directory of Open Access Journals (Sweden)

Faida Ajili

2013-10-01

Full Text Available “Werner’s syndrome” or premature aging syndrome is a rare autosomal recessive genetic disease. It is responsible of several complications related to age, including atherosclerosis and association with cancer. We report the case of a 36 year-old-patient, admitted to department of Internal Medicine of the military hospital of Tunis for suspicion of systemic sclerosis. The patient had all the major signs of Werner syndrome (bilateral cataract, sclerotic skin, “bird face”, baldness, small size, parental consanguinity and 4 minor signs (type 2 diabetes, hypogonadism, squeaky voice, and flat feet. She has also a brother with the same morphotype died at the age of 32 by a myocardial infarction. The current follow-up time is 9 years..

'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.

Retinopathy of Prematurity: Clinical Features, Classification, Natural History, Management and Outcome.

Science.gov (United States)

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

2016-11-07

Retinopathy of prematurity is an avoidable cause of childhood blindness. Proper understanding of the classification and treatment methods is a must in tackling this disease. Literature search with PubMed was conducted covering the period 1940-2015 with regards to retinopathy of prematurity, retrolental fibroplasia, its natural history, classification and treatment. The clinical features, screening and staging of retinopathy of prematurity according to International classification of retinopathy of prematurity (ICROP) has been included with illustrations. The standard current treatment indications, modalities and outcomes from landmark randomized controlled trials on retinopathy of prematurity have been mentioned. This review would help pediatricians to update their current knowledge on classification and treatment of retinopathy of prematurity. Screening for retinopathy of prematurity, in India, should be performed in all preterm neonates who are born <34 weeks gestation and/or <1750 grams birthweight; as well as in babies 34-36 weeks gestation or 1750-2000 grams birthweight if they have risk factors for ROP. Screening should start by one month after birth.

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.

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. ...

Cockayne Syndrome group B protein stimulates NEIL2 DNA glycosylase activity

DEFF Research Database (Denmark)

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

2014-01-01

Cockayne Syndrome is a segmental premature aging syndrome, which can be caused by loss of function of the CSB protein. CSB is essential for genome maintenance and has numerous interaction partners with established roles in different DNA repair pathways including transcription coupled nucleotide...... activity on a 5-hydroxyl uracil lesion in a DNA bubble structure substrate in vitro. A novel 4,6-diamino-5-formamidopyrimidine (FapyA) specific incision activity of NEIL2 was also stimulated by CSB. To further elucidate the biological role of the interaction, immunofluorescence studies were performed...

Basal ganglia calcification on CT in adult patients with Down's syndrome

International Nuclear Information System (INIS)

Ono, Yoshiro; Yoshida, Hironobu; Yoshimasu, Fumio; Higashi, Yuji.

1987-01-01

Fourteen adult cases with Down's syndrome were examined on cranial CT scan, and 5 of them (35.7 %) showed basal ganglia calcification (BGC). The incidence of BGC in the present cases was very high in comparison with the one in general population (0.3 ∼ 1.5 %). Abnormalities of calcium metabolism or dysfunctions of the basal ganglia were absent in each case with BGC. Calcifications were exclusively located in globus pallidus. It is considered that BGC found in the present cases may be due to the premature aging process in Down's syndrome. (author)

The relationship of the subtypes of preterm birth with retinopathy of prematurity.

Science.gov (United States)

Lynch, Anne M; Wagner, Brandie D; Hodges, Jennifer K; Thevarajah, Tamara S; McCourt, Emily A; Cerda, Ashlee M; Mandava, Naresh; Gibbs, Ronald S; Palestine, Alan G

2017-09-01

Retinopathy of prematurity is an adverse outcome of preterm birth and is a leading cause of childhood blindness. The relationship between the subtypes of preterm birth with retinopathy of prematurity is understudied. To investigate whether there is a difference in the incidence of type 1 or type 2 retinopathy of prematurity in infants with preterm birth resulting from spontaneous preterm labor, a medical indication of preterm birth, or preterm premature rupture of the membranes. A retrospective cohort study was conducted of 827 infants screened for retinopathy of prematurity who were delivered at a single tertiary care center in Colorado. All infants fulfilled the American Academy of Pediatrics 2013 screening criteria for retinopathy of prematurity defined as "infants with a birth weight of ≤1500 g or gestational age of 30 weeks or less (as defined by the attending neonatologist) and selected infants with a birth weight between 1500 and 2000 g or gestational age of >30 weeks with an unstable clinical course, including those requiring cardiorespiratory support and who are believed by their attending pediatrician or neonatologist to be at high risk for retinopathy of prematurity." Two independent reviewers masked to retinopathy of prematurity outcomes determined whether preterm birth resulted from spontaneous preterm labor, medical indication of preterm birth, or preterm premature rupture of the membranes. Discrepancies were resolved by a third reviewer. Data were analyzed with univariate and multivariable logistic regression. In our cohort, the frequency of preterm birth resulting from spontaneous preterm labor, medical indication of preterm birth, or preterm premature rupture of the membranes was 34%, 40%, and 26%, respectively. The mean gestational age (weeks, days) ± SD (range) in the cohort and across the preterm birth subtypes was as follows: entire cohort, 28 weeks, 6 days ± 2 weeks, 3 days (23 weeks, 3 days - 36 weeks, 4 days); spontaneous preterm labor

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.

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 ...

Hemophagocytic syndrome secondary to tuberculosis at 24-week gestation

Directory of Open Access Journals (Sweden)

Alexandra Arteaga Fernández

2017-01-01

Full Text Available Hemophagocytic syndrome is a life-threatening disease characterized by the uncontrolled activation of macrophages, resulting in hemophagocytosis of blood cells in the bone marrow. A 20-year-old gravida at 23-week and 5-day gestation was admitted to hospital to evaluate fever up to 104°F of unknown origin, moderate cytopenia, and elevated levels of liver enzymes. Bone marrow biopsy confirmed hemophagocytic syndrome, and polymerase chain reaction came back positive for Mycobacterium tuberculosis. Supportive care and tuberculosis treatment resulted in clinical improvement. At 27 weeks and 5 days, premature rupture of the membranes occurred, and because of the high probability of reactivating the hemophagocytic syndrome, a cesarean section was performed at 29-week and 2-day gestation. Hemophagocytic syndrome is an uncommon disease which rarely appears during pregnancy. Early diagnosis and treatment can save both maternal and fetal lives.

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.

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 ...

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....

Electroconvulsive therapy-induced Wolff-Parkinson-White syndrome: a case report.

Science.gov (United States)

Enomoto, Shingo; Yoshino, Aihide; Takase, Bonpei; Kuwahara, Tatsuro; Tatsuzawa, Yasutaka; Nomura, Soichiro

2013-01-01

Wolff-Parkinson-White (WPW) syndrome is characterized by premature ventricular excitation due to the presence of an abnormal accessory pathway. Electrocardiography (ECG) of patients with WPW syndrome portrays a short PR interval and a wide QRS interval with a delta wave. Herein, we report the case of a patient with schizophrenia who developed a wide QRS interval with a delta wave immediately following electroconvulsive therapy (ECT). Initially, the delta wave disappeared within 2 days after ECT. However, the duration of the delta wave increased exponentially to 4 months when ECT was repeated. Although the patient's cardiocirculatory dynamics remained normal, we continued to monitor her ECG until the delta wave disappeared because WPW syndrome can lead to serious arrhythmia. Copyright © 2013 Elsevier Inc. All rights reserved.

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 ...

Roles of Werner syndrome protein in protection of genome integrity

DEFF Research Database (Denmark)

Rossi, Marie L; Ghosh, Avik K; Bohr, Vilhelm A

2010-01-01

Werner syndrome protein (WRN) is one of a family of five human RecQ helicases implicated in the maintenance of genome stability. The conserved RecQ family also includes RecQ1, Bloom syndrome protein (BLM), RecQ4, and RecQ5 in humans, as well as Sgs1 in Saccharomyces cerevisiae, Rqh1...... in Schizosaccharomyces pombe, and homologs in Caenorhabditis elegans, Xenopus laevis, and Drosophila melanogaster. Defects in three of the RecQ helicases, RecQ4, BLM, and WRN, cause human pathologies linked with cancer predisposition and premature aging. Mutations in the WRN gene are the causative factor of Werner...

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/.

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.

CHOROIDAL MELANOMA IN A PATIENT WITH WAARDENBURG SYNDROME.

Science.gov (United States)

Itty, Sujit; Richter, Elizabeth R; McCannel, Tara A

2015-01-01

To report a case of choroidal malignant melanoma in a patient with Waardenburg syndrome and bilateral choroidal pigmentary abnormalities. Clinical examination and multimodal imaging of the case. A 45-year-old woman presented with asymptomatic flat choroidal pigmentation abnormalities in both eyes. A choroidal lesion was identified in the inferotemporal periphery of the left eye arising from an area of hyperpigmentation; ultrasonography findings were consistent with a choroidal melanoma. The patient endorsed a personal and family history of premature graying of hair and was identified to have dystopia canthorum consistent with the diagnosis of Waardenburg syndrome. The authors present the first reported case of concurrent Waardenburg syndrome and choroidal malignant melanoma. This cooccurrence may suggest that the relative hyperpigmented regions in affected fundi may be abnormal and should be monitored closely for the development of choroidal melanoma.

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.)

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.

Age-Related Effect of Viral-Induced Wheezing in Severe Prematurity

Directory of Open Access Journals (Sweden)

Geovanny F. Perez

2016-10-01

Full Text Available Premature children are prone to severe viral respiratory infections in early life, but the age at which susceptibility peaks and disappears for each pathogen is unclear. Methods: A retrospective analysis was performed of the age distribution and clinical features of acute viral respiratory infections in full-term and premature children, aged zero to seven years. Results: The study comprised of a total of 630 hospitalizations (n = 580 children. Sixty-seven percent of these hospitalizations occurred in children born full-term (>37 weeks, 12% in preterm (32–37 weeks and 21% in severely premature children (<32 weeks. The most common viruses identified were rhinovirus (RV; 60% and respiratory syncytial virus (RSV; 17%. Age-distribution analysis of each virus identified that severely premature children had a higher relative frequency of RV and RSV in their first three years, relative to preterm or full-term children. Additionally, the probability of RV- or RSV-induced wheezing was higher overall in severely premature children less than three years old. Conclusions: Our results indicate that the vulnerability to viral infections in children born severely premature is more specific for RV and RSV and persists during the first three years of age. Further studies are needed to elucidate the age-dependent molecular mechanisms that underlie why premature infants develop RV- and RSV-induced wheezing in early life.

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

[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.

Controversies concerning the antiphospholipid syndrome in obstetrics.

Science.gov (United States)

Camarena Cabrera, Dulce María Albertina; Rodriguez-Jaimes, Claudia; Acevedo-Gallegos, Sandra; Gallardo-Gaona, Juan Manuel; Velazquez-Torres, Berenice; Ramírez-Calvo, José Antonio

Antiphospholipid antibody syndrome is a non-inflammatory autoimmune disease characterized by recurrent thrombotic events and/or obstetric complications associated with the presence of circulating antiphospholipid antibodies (anticardiolipin antibodies, anti-β 2 glycoprotein-i antibodies, and/or lupus anticoagulant. Antiphospholipid antibodies are a heterogeneous group of autoantibodies associated with recurrent miscarriage, stillbirth, fetal growth restriction and premature birth. The diversity of the features of the proposed placental antiphospholipid antibodies fingerprint suggests that several disease processes may occur in the placentae of women with antiphospholipid antibody syndrome in the form of immune responses: inflammatory events, complement activation, angiogenic imbalance and, less commonly, thrombosis and infarction. Because of the disparity between clinical and laboratory criteria, and the impact on perinatal outcome in patients starting treatment, we reviewed the aspects of antiphospholipid antibody syndrome related to obstetric complications and seronegative antiphospholipid antibody syndrome, and their treatment in obstetrics. Copyright © 2016 Elsevier España, S.L.U. and Sociedad Española de Reumatología y Colegio Mexicano de Reumatología. All rights reserved.

[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.

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

Faktor Ibu yang Mempengaruhi Persalinan Prematur di RSUD Arifin Achmad Pekanbar

Directory of Open Access Journals (Sweden)

Liva Maita

2012-11-01

Full Text Available Persalinan prematur atau Partus Prematurus adalah persalinan yang terjadi pada usia kehamilan kurang dari 37 minggu dihitung dari hari pertama haid terakhir. Data di RSUD Arifin Achmad Pekanbaru didapatkan data pada tahun 2010 didapatkan data jumlah persalinan sebanyak 2400 kasus, dengan persalinan prematur 190 kasus (7,91%, tahun 2011 jumlah persalinan sebanyak 2287 kasus dengan persalinan prematur 279 kasus (12% dan pada periode Januari-April 2012 jumlah persalinan prematur 780 kasus (11,5%. Tujuan penelitian adalah diketahuinya hubungan dari komplikasi kehamilan, riwayat persalinan prematur, anemia, umur dan paritas dengan persalinan prematur. Jenis penelitian yang digunakan adalah studi kasus kontrol. Populasi dalam penelitian ini adalah seluruh ibu bersalin di RSUD Arifin achmad Pekanbaru. Besarnya sampel terdiri dari 245 kasus dan 245 kontrol. Analisis data dilakukan secara univariat, bivariat dan multivariat dengan metode Regresi Logistic Ganda. Hasil penelitian adalah komplikasi kehamilan (95% CI: 4,09-9,21, umur (CI 95%: 1,58-3,69, dan paritas (95% CI: 1,05-2,36 berhubungan dengan persalinan prematur. Kesimpulan yaitu variabel dominan yang berhubungan dengan kejadian persalinan prematur adalah komplikasi kehamilan dan tidak ada variabel counfounding. Saran kepada ibu hamil yang mengalami komplikasi kehamilan untuk memeriksakan kehamilan secara teratur minimal 4 kali selama kehamilan; pada ibu paritas tinggi disarankan menggunakan kontrasepsi mantap; dan Kepada tenaga kesehatan dapat mengelompokkan status pasien yang berisiko untuk mempermudah pemberian KIE

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.

HELLP Syndrome Complicated with Postpartum Subcapsular Ruptured Liver Hematoma and Purtscher-Like Retinopathy

Directory of Open Access Journals (Sweden)

Daniela Cernea

2012-01-01

Full Text Available Purtscher's retinopathy is usually associated with trauma, acute pancreatitis, vasculitis, lupus, and bone fractures. It was rarely described postpartum in patients with preeclampsia as well as associated with HELLP syndrome. We present a case of a multiparous patient aged 44 with severe preeclampsia and postpartum HELLP syndrome complicated with Purtscher-like retinopathy and large ruptured subcapsular liver hematoma that required emergency abdominal surgery after premature delivery of a dead fetus. Postsurgical outcome was favorable regarding both liver function and visual acuity.

Radiological assessment of skull base changes in children with syndromic craniosynostosis: role of ''minor'' sutures

International Nuclear Information System (INIS)

Calandrelli, Rosalinda; D'Apolito, Gabriella; Gaudino, Simona; Stefanetti, Mariangela; Colosimo, Cesare; Massimi, Luca; Di Rocco, Concezio

2014-01-01

This study aims to identify the premature synostosis of ''major'' and ''minor'' sutures of the four ''sutural arches'' of the skull and to perform a morphometric analysis in children with syndromic craniosynostosis in order to evaluate changes in the skull base linked with premature suture synostosis. We reviewed multiplanar high-resolution CT images, implemented with 3D reconstructions, from 18 patients with complex syndromic craniosynostosis and compared them with 18 age-matched healthy subjects. We assessed the calvarial sutures and their extension to the skull base, and then we correlated specific types of synostosis with the size, shape and symmetry of the cranial fossae. We found a marked asymmetry of the skull base growth in all patients. The synostotic involvement around the coronal ring caused a reduction in the growth of the anterior and middle fossae. The size of the posterior cranial fossa was related not only to ''major'' but also to ''minor'' suture synostosis of the lambdoid and parieto-squamosal arches. Changes in the skull base and craniofacial axis symmetry are due to structural and functional relationships between ''major'' and ''minor'' skull sutures, suggesting a structural and functional relationship between the neurocranium and basicranium. The early recognition of prematurely closed skull base sutures may help clinicians and neurosurgeons to establish correct therapeutic approaches. (orig.)

[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.

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

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.

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.

Effects of pre-pregnancy obesity, race/ethnicity and prematurity.

Science.gov (United States)

de Jongh, B E; Paul, D A; Hoffman, M; Locke, R

2014-04-01

To investigate the association between maternal pre-pregnancy obesity, race/ethnicity and prematurity. Retrospective cohort study of maternal deliveries at a single regional center from 2009 to 2010 time period (n = 11,711). Generalized linear models were used for the analysis to estimate an adjusted odds ratio with 95% confidence interval of the association between maternal pre-pregnancy obesity, race/ethnicity and prematurity. Analysis controlled for diabetes, chronic hypertension, previous preterm birth, smoking and insurance status. The demographics of the study population were as follows, race/ethnicity had predominance in the White/Non-Hispanic population with 60.1%, followed by the Black/Non-Hispanic population 24.2%, the Hispanic population with 10.3% and the Asian population with 5.4%. Maternal pre-pregnancy weight showed that the population with a normal body mass index (BMI) was 49.4%, followed by the population being overweight with 26.2%, and last, the population which was obese with 24.4%. Maternal obesity increased the odds of prematurity in the White/Non-Hispanic, Hispanic and Asian population (aOR 1.40, CI 1.12-1.75; aOR 2.20, CI 1.23-3.95; aOR 3.07, CI 1.16-8.13, respectively). Although the Black/Non-Hispanic population prematurity rate remains higher than the other race/ethnicity populations, the Black/Non-Hispanic population did not have an increased odds of prematurity in obese mothers (OR 0.87; CI 0.68-1.19). Unlike White/Non-Hispanic, Asian and Hispanic mothers, normal pre-pregnancy BMI in Black/Non-Hispanic mothers was not associated with lower odds for prematurity. The odds for mothers of the White/Non-Hispanic, Hispanic and Asian populations, for delivering a premature infant, were significantly increased when obese. Analysis controlled for chronic hypertension, diabetes, insurance status, prior preterm birth and smoking. Obesity is a risk factor for prematurity in the White/Non-Hispanic, Asian and Hispanic population, but not for the

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.

EVALUATING THE EFFECTIVENESS OF ELKAR (L-CARNITINE IN PREMATURE INFANTS

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Svetlana V. Garina

2016-06-01

Full Text Available Introduction. Recently in Russia there is a tendency to increase the proportion of premature infants, prolonged postnatal adaptation which may be associated with carnitine deficiency Early diagnosis and correction of carnitine deficiency in premature infants is possible to reserve the prevention of pathological conditions of the prenatal period in these patients. Materials and Methods. 98 newborn infants have been examined with the help of clinical laboratory methods. Results. It has been stated that the overwhelming majority of newborn infants irrespective of their gestational age and body mass at the moment of birth had reference ranges of crude carnitine and higher degree of floating carnitine in their peripheral blood within the first days of their lives. These changes are particularly characteristic for small pre-mature infants. Statistically significant differences between the levels of crude carnitine and floating carnitine depended on the gender of newborn infants have been revealed. Directly correlated dependence of the level of crude carnitine on the body mass at the moment of birth of small premature infants has been stated. Discussion and Conclusions. It has been proved that implementing L-carnitine into the development care plan for premature infants facilitates quick body weight gain, significantly cuts down the period of tube feeding, lowers frequency of anemia development of premature infants and duration of neonatal jaundice. The ability of Elkar to correct functional diseases of cardio vascular system of premature infants has been shown.

Premature hair greying may predict reduced bone mineral density in Graves' disease.

LENUS (Irish Health Repository)

Leary, A C

2012-02-03

BACKGROUND: Premature hair greying has been associated with low bone mineral density (BMD), and it may be more frequent in Graves\\' disease. AIMS: To determine whether premature greying is associated with reduced BMD in women with Graves\\' disease and in control women, and to examine whether premature greying is more common in Graves\\' disease. METHODS: Premature greying (> 50% grey by 40 years) and BMD were determined in 44 women with a history of Graves\\' disease and 133 female controls referred for routine BMD measurement. Exclusion criteria included diseases or drugs known to affect BMD. RESULTS: Mean Z and T scores at the lumbar spine were significantly lower (P < 0.04) in subjects with premature greying than in those not prematurely grey among women with Graves\\' disease, but not among control women. Multiple regression confirmed this difference between Graves\\' and control women (P = 0.041). There were no differences at other measurement sites. Of Graves\\' patients, 36% were prematurely grey compared with 25% of control women (P = 0.14). CONCLUSION: Premature greying may be a weak marker for reduced BMD in women with a history of Graves\\' disease, but it is not a marker in normal women.

Bartter syndrome type III and congenital anomalies of the kidney and urinary tract: an antenatal presentation.

Science.gov (United States)

Westland, Rik; Hack, Wilfried W; van der Horst, Henricus J R; Uittenbogaard, Lukas B; van Hagen, Johanna M; van der Valk, Paul; Kamsteeg, Erik J; van den Heuvel, Lambert P; van Wijk, Joanna A E

2012-12-01

Bartter syndrome encompasses a variety of inheritable renal tubular transport disorders characterized by hypokalemia and hypochloremic metabolic alkalosis. Bartter syndrome Type III is caused by genetic alterations in the chloride channel kidney B (CLCNKB) gene and often presents in the first 2 years of life, known as classic Bartter syndrome. However, in rare cases Bartter syndrome Type III has an antenatal presentation with polyhydramnios, premature delivery and severe dehydration in the first weeks of life. Associations between congenital anomalies of the kidney and urinary tract and Bartter syndrome are extremely rare. This case report presents a girl with Bartter syndrome Type III due to a homozygous CLCNKB mutation and bilateral congenital anomalies of the kidney and urinary tract. In addition, we describe the antenatal presentation as well as its perinatal management.

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

Papillion-Lefèvre Syndrome: Periodontists’ Perspective

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Sunil Kumar Biraggari

2015-01-01

Full Text Available Papillion-Lefèvre Syndrome is a very rare disorder of autosomal recessive inheritance distinguished by palmar plantar hyperkeratosis and early onset of periodontitis affecting the dentition. Genetic studies have identified a mutation in the major gene locus of chromosome 11q14 with loss of function. Cathepsin C gene is to be responsible for Papillion-Lefèvre Syndrome. The present case report describes a 13-year-old female, who visited the Department of Periodontology with the chief compliant of bleeding gums and loose teeth. She presented with the signs and symptoms of Papillion-Lefèvre Syndrome. The patient had premature shedding of her deciduous dentition. On clinical examination, extraorally, the patient presented with persistent thickening, flaking, and scaling of the skin of palms and soles. Her intraoral examination revealed gingival inflammation, abscess formation, and periodontal pockets. Her intraoral radiographs showed bone loss involving the central incisors and molars. The patient underwent periodontal therapy and is under maintenance.

A canine model of Cohen syndrome: Trapped Neutrophil Syndrome.

Science.gov (United States)

Shearman, Jeremy R; Wilton, Alan N

2011-05-23

Trapped Neutrophil Syndrome (TNS) is a common autosomal recessive neutropenia in Border collie dogs. We used a candidate gene approach and linkage analysis to show that the causative gene for TNS is VPS13B. We chose VPS13B as a candidate because of similarities in clinical signs between TNS and Cohen syndrome, in human, such as neutropenia and a typical facial dysmorphism. Linkage analysis using microsatellites close to VPS13B showed positive linkage of the region to TNS. We sequenced each of the 63 exons of VPS13B in affected and control dogs and found that the causative mutation in Border collies is a 4 bp deletion in exon 19 of the largest transcript that results in premature truncation of the protein. Cohen syndrome patients present with mental retardation in 99% of cases, but learning disabilities featured in less than half of TNS affected dogs. It has been implied that loss of the alternate transcript of VPS13B in the human brain utilising an alternate exon, 28, may cause mental retardation. Mice cannot be used to test this hypothesis as they do not express the alternate exon. We show that dogs do express alternate transcripts in the brain utilising an alternate exon homologous to human exon 28. Dogs can be used as a model organism to explore the function of the alternately spliced transcript of VPS13B in the brain. TNS in Border collies is the first animal model for Cohen syndrome and can be used to study the disease aetiology.

Chest roentgenographic findings of thymic size and shape in respiratory distress syndrome

International Nuclear Information System (INIS)

Oh, Young Ho; Yoon, Sung Do; Sung, Ki Yeal; Park, Seog Hee; Kim, Jong Woo; Bahk, Yong Whee

1984-01-01

Thymic size can be affected by both exogenous and endogenous glucocorticoids. Development of the respiratory distress syndrome (RDS) is influenced by adrenal cortical function. Thus, thymic size in RDS is considered to be enlarged due to decreased adrenal cortical function. To find whether the presence of RDS correlates with the thymus, the size and shape of the thymus were evaluated in the radiographs of premature infants with RDS, without RDS (control prematurity) and normal infants. The subjects were consisted of chest films of Korean premature infants, 120 with RDS, 60 without RDS, and 60 of normal infants taken at the Department of Radiology, Our Lady of Mercy Hospital during the period of 62 months since January 1978. Relative size of the thymus was determine by cardiothymic/thoracic ratio (CT /T ratio). Grading and location of the thymic prominence as well as incidence of the shape were examined. And all the relations among the radiographs of RDS, control prematurity and normal infants were analyzed. The results were as follows: 1. The CT/T ratio of premature infants with RDS was significantly greater than that of control prematurity and normal infants (P< 0.01). 2. The incidence of bilateral thymic prominence was more frequent in premature infant with RDS than in control prematurity and normal infants (P<0.05). 3. The frequency of thymic prominence was greater in the right than left side in all the three groups (P<0.05). 4. As in the shape of the thymus, a rounded type was most frequent, and a triangular type was least frequent in all three groups. 5. Incident of RDS was very low (9.8%) when the CT/T ratio is below 0.3 and it was very high (90.9%) when the CT/T ratio is above 0.49.

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.

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

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.

A new nonsense mutation in the NF1 gene with neurofibromatosis-Noonan syndrome phenotype.

Science.gov (United States)

Yimenicioğlu, Sevgi; Yakut, Ayten; Karaer, Kadri; Zenker, Martin; Ekici, Arzu; Carman, Kürşat Bora

2012-12-01

Neurofibromatosis-Noonan syndrome is a rare autosomal dominant disorder which combines neurofibromatosis type 1 (NF1) features with Noonan syndrome. NF1 gene mutations are reported in the majority of these patients. Sequence analysis of the established genes for Noonan syndrome revealed no mutation; a heterozygous NF1 point mutation c.7549C>T in exon 51, creating a premature stop codon (p.R2517X), had been demonstrated. Neurofibromatosis-Noonan syndrome recently has been considered a subtype of NF1 and caused by different NF1 mutations. We report the case of a 14-year-old boy with neurofibromatosis type 1 with Noonan-like features, who complained of headache with triventricular hydrocephaly and a heterozygous NF1 point mutation c.7549C>T in exon 51.

Marfan syndrome gene search intensifies following identification of basic defect

Energy Technology Data Exchange (ETDEWEB)

Randall, T.

1990-10-03

Somewhere, quite possible along chromosomes 8 and/or 15, the gene(s) for Marfan syndrome will be found. The search is intensifying following a report that faulty scaffolding in the body's connective tissue appears to be the long sought after defect behind the syndrome, and inherited disorder that has caused the premature death of young, healthy-looking individuals. Finding that something in the living masonry of the human body has proven to be a 30-year inquisition of nearly two dozen molecules that has engaged investigators worldwide. Historically, researchers have searched for a structural flaw in one of the collagen molecules to explain the cause of Marfan Syndrome. Using monoclonal antibodies, researchers have implicated microfibrils, the extracellular filaments that provide a matrix for the deposit of elastin during embryonic development.

Rapid test for lung maturity, based on spectroscopy of gastric aspirate, predicted respiratory distress syndrome with high sensitivity

DEFF Research Database (Denmark)

Verder, Henrik; Heiring, Christian; Clark, Howard

2017-01-01

AIM: Respiratory distress syndrome (RDS) is a major cause of mortality and morbidity in premature infants. By the time symptoms appear, it may already be too late to prevent a severe course, with bronchopulmonary dysplasia or mortality. We aimed to develop a rapid test of lung maturity...... for targeting surfactant supplementation. METHODS: Concentrations of the most surface-active lung phospholipid dipalmitoylphosphatidylcholine and sphingomyelin in gastric aspirates from premature infants were measured by mass spectrometry and expressed as the lecithin/sphingomyelin ratio (L/S). The same...

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

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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.

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

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.

Maternal Smoking during Pregnancy, Prematurity and Recurrent Wheezing in Early Childhood

Science.gov (United States)

Robison, Rachel G; Kumar, Rajesh; Arguelles, Lester M; Hong, Xiumei; Wang, Guoying; Apollon, Stephanie; Bonzagni, Anthony; Ortiz, Kathryn; Pearson, Colleen; Pongracic, Jacqueline A; Wang, Xiaobin

2013-01-01

Summary Background Prenatal maternal smoking and prematurity independently affect wheezing and asthma in childhood. Objective We sought to evaluate the interactive effects of maternal smoking and prematurity upon the development of early childhood wheezing. Methods We evaluated 1448 children with smoke exposure data from a prospective urban birth cohort in Boston. Maternal antenatal and postnatal exposure was determined from standardized questionnaires. Gestational age was assessed by the first day of the last menstrual period and early prenatal ultrasound (pretermprematurity and maternal antenatal smoking on recurrent wheeze, controlling for relevant covariates. Results In the cohort, 90 (6%) children had recurrent wheezing, 147 (10%) were exposed to in utero maternal smoke and 419 (29%) were premature. Prematurity (odds ratio [OR] 2.0; 95% CI, 1.3-3.1) was associated with an increased risk of recurrent wheezing, but in utero maternal smoking was not (OR 1.1, 95% CI 0.5-2.4). Jointly, maternal smoke exposure and prematurity caused an increased risk of recurrent wheezing (OR 3.8, 95% CI 1.8-8.0). There was an interaction between prematurity and maternal smoking upon episodes of wheezing (p=0.049). Conclusions We demonstrated an interaction between maternal smoking during pregnancy and prematurity on childhood wheezing in this urban, multiethnic birth cohort. PMID:22290763

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�

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.

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

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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.

Apnea of Prematurity (For Parents)

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... 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 ...

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

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

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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

Premature Ejaculation and Utilization of Cognitive Techniques

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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

Premature delivery

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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.

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

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Zong-Hua Wang

2014-08-01

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

Destructin-1 is a collagen-degrading endopeptidase secreted by Pseudogymnoascus destructans, the causative agent of white-nose syndrome

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O'Donoghue, AJ; Knudsen, GM; Beekman, C; Perry, JA; Johnson, AD; DeRisi, JL; Craik, CS; Bennett, RJ

2015-01-01

© 2015, National Academy of Sciences. All rights reserved. Pseudogymnoascus destructans is the causative agent of white-nose syndrome, a disease that has caused the deaths of millions of bats in North America. This psychrophilic fungus proliferates at low temperatures and targets hibernating bats, resulting in their premature arousal from stupor with catastrophic consequences. Despite the impact of white-nose syndrome, little is known about the fungus itself or how it infects its mammalian ho...

Adverse respiratory outcome after premature rupture of membranes before viability.

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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.

[Obesity or overweight and metabolic syndrome in Mexico City teenagers].

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Cardoso-Saldaña, Guillermo C; Yamamoto-Kimura, Liria; Medina-Urrutia, Aida; Posadas-Sánchez, Rosalinda; Caracas-Portilla, Nacú A; Posadas-Romero, Carlos

2010-01-01

aim: To know the metabolic syndrome and its components prevalence in Mexico City adolescents sample. A cross-sectional survey was conducted in 772 men and 1078 women, 12 to 16 years old, from 8 randomly selected public junior high schools in Mexico City. Anthropometric variables, lipids, lipoproteins, Apo AI and B, glucose and insulin were determined. Prevalence of metabolic syndrome was 12.5%, 11.15% in men and 13.5% en women (p ns). The most frequently metabolic syndrome component found in México City adolescents was low HDL-C levels (38%), followed by hypertriglyceridemia (25.5%), hypertension (19.2%), central obesity (11.8%) and elevated fasting glucose (1.7). Except by the hypertriglyceridemia, higher in woman than in men, 28.2% vs. 21.6%, p metabolic syndrome components was similar between males and females. The high prevalence of biochemical and physiological factors of metabolic syndrome, associated with overweight and obesity in Mexico City adolescents, increases the risk of premature development of coronary atherosclerosis and diabetes mellitus in this population.

Report of a case of Turner′s syndrome with localized aggressive periodontitis

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Suresh Kumar Kasagani

2011-01-01

Full Text Available Turner′s syndrome is a disorder in females characterized by the absence of all or part of a normal second sex chromosome. It is typically characterized by the combination of physical features and cytogenetics in females. Physical features include short stature, primary amenorrhea, hypogonadism, low hair line at the back of the neck, and digital anomalies. Most affected patients have a 45XO monosomy, but the presence of an abnormal chromosome or mosaicism of 45X with another cell line can also fulfill the criteria. Features seen in the oral cavity of patients diagnosed with Turner′s syndrome include high palatal vault, hypoplastic mandible, prematurely erupting teeth, and orthodontic anomalies. A case of Turner′s syndrome with localized aggressive periodontitis has been reported here.

[Outcomes of surgical management of retinopathy of prematurity--an overview].

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Kuprjanowicz, Leszek; Kubasik-Kładna, Katarzyna; Modrzejewska, Monika

2014-01-01

According to the guidelines by the ETROP (Early Treatment for Retinopathy of Prematurity) study group, laser therapy is the gold standard in the treatment of retinopathy of prematurity. However, progression of the disease is seen in 12% of eyes despite the treatment. Since there is no causal treatment, new therapies of retinopathy of prematurity, are continually sought, such as anti-VEGF agents, beta-blockers, or insulin-like growth factor gene therapy. In cases with concomitant retinal detachment, surgery is performed. The standard therapy for retinopathy of prematurity stages 4-5 involves pars plicata vitrectomy and lensectomy (stage 5), ab externo surgery (scleral buckling) and lens-sparing vitrectomy (some cases of stage 4). Classic vitrectomy with lensectomy is reserved only for cases with advanced retinal tractions, retina-lens apposition or for cases of intraoperative lens damage during the lens-sparing vitrectomy. The ab externo surgery does not eliminate vitreous tractions, but it stabilises the neovascular membrane activity (transforming it into a scar). The indication for this type of operation is stage 4 retinopathy of prematurity with peripheral proliferations, except for the posterior--aggressive form of retinopathy of prematurity. Many papers have been published on combined therapy involving vitrectomy and conservative treatment. In conclusion, optimal timing of surgical intervention is difficult to determine in stages 4 and 5, because the anatomical and functional outcomes in stage 5 are unfavourable. Both, ab externo surgery and vitrectomy tend to produce poor macular vision in eyes with advanced retinopathy of prematurity, therefore surgical intervention at stage 4 just before the local macular retinal detachment provides better anatomical and functional outcomes.

Biomarkers of brain injury in the premature infant

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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.

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.

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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.

Impact of Prematurity on Language Skills at School Age

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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…

Advances in understanding and management of retinopathy of prematurity.

Science.gov (United States)

Hartnett, Mary Elizabeth

The understanding, diagnosis, and treatment of retinopathy of prematurity have changed in the 70 years since the original description of retrolental fibroplasia associated with high oxygenation. It is now recognized that retinopathy of prematurity differs in appearance worldwide and as ever smaller and younger premature infants survive. New methods are being evaluated to image the retina, diagnose severe retinopathy of prematurity, 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. Copyright © 2016 Elsevier Inc. All rights reserved.

Joint hypermobility syndrome and related pain

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Nilay Sahin

2016-06-01

Full Text Available Hypermobility is defined as an abnormally increased range of motion of a joint resulting from the excessive laxity of the soft tissues. This paper is focused on this commonly forgotten cause of several morbidities. The etiology of hypermobility is not very well known. One decade ago, joint hypermobility syndrome was considered as a benign condition, but now it is recognized as a significant contributor to chronic musculoskeletal pain, besides impacting on other organs. Patients with joint hypermobility syndrome often have diffuse, chronic complaints that are inconsistent with the musculoskeletal system. Chronic pain may cause loss of proprioception and so increased sensitivity to microtrauma, premature osteoarthritis de- velopment, soft tissue problems, psychosocial disorders, and neurophysiological deficiencies. Osteoarthritis, pes planus, mechanical low back pain, and soft tissue rheumatisms are frequent musculoskeletal findings as well as subluxations, thoracic outlet syndrome, rectal and uterine prolapses, hernias, and stress incontinence. Joint hypermobility syndrome's treatment is not easy, and nonsteroidal anti-inflammatory drugs are not usually effective or adequate. Proprioceptive and strengthening exercises have been reported to have supportive and therapeutic effects, but we have limited data on this issue. Joint hypermobility syndrome must be accepted as a multisystem connective tissue disorder rather than just joint laxities. As a result; clinicians must be aware of complexities of connective tissue disorders and comorbidities. [Arch Clin Exp Surg 2016; 5(2.000: 105-112

Cardiovascular Risk Factors in the Antiphospholipid Syndrome

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Felipe Freire da Silva

2014-01-01

Full Text Available A major cause of morbidity and mortality in the context of the antiphospholipid syndrome (APS is the occurrence of thrombotic events. Besides the pathogenic roles of antiphospholipid antibodies (aPL, other risk factors and medical conditions, which are conditions for traditional risk of an individual without the APS, can coexist in this patient, raising their risk of developing thrombosis. Therefore, the clinical and laboratory investigation of comorbidities known to increase cardiovascular risk in patients with antiphospholipid antibody syndrome is crucial for the adoption of a more complete and effective treatment. Experimental models and clinical studies show evidence of association between APS and premature formation of atherosclerotic plaques. Atherosclerosis has major traditional risk factors: hypertension, diabetes mellitus, obesity, dyslipidemia, smoking, and sedentary lifestyle that may be implicated in vascular involvement in patients with APS. The influence of nontraditional risk factors as hyperhomocysteinemia, increased lipoprotein a, and anti-oxLDL in the development of thromboembolic events in APS patients has been studied in scientific literature. Metabolic syndrome with all its components also has been recently studied in antiphospholipid syndrome and is associated with arterial events.

HEARING FUNCTION IN PREMATURE CHILDREN WITH INTRAUTERINE GROWTH RESTRICTION

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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.

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

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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.

Crouzon′s syndrome: A review of literature and case report

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Vivek Padmanabhan

2011-01-01

Full Text Available Crouzon′s 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′s syndrome is caused by mutation in the fibroblast growth factor receptor 2 (FGFR2 gene. Normally, the sutures in the human skull fuse after the complete growth of the brain, but if any of these sutures close early then it may interfere with the growth of the brain. The disease is characterized by premature synostosis of coronal and sagittal sutures which begins in the first year of life. Case report of a 7 year old boy is presented with characteristic features of Crouzon′s syndrome with mental retardation. The clinical, radiographic features along with the complete oral rehabilitation done under general anesthesia and preventive procedures done are described.

Histological Chorioamnionitis: Effects on Premature Delivery and Neonatal Prognosis

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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.

A canine model of Cohen syndrome: Trapped Neutrophil Syndrome

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Shearman Jeremy R

2011-05-01

Full Text Available Abstract Background Trapped Neutrophil Syndrome (TNS is a common autosomal recessive neutropenia in Border collie dogs. Results We used a candidate gene approach and linkage analysis to show that the causative gene for TNS is VPS13B. We chose VPS13B as a candidate because of similarities in clinical signs between TNS and Cohen syndrome, in human, such as neutropenia and a typical facial dysmorphism. Linkage analysis using microsatellites close to VPS13B showed positive linkage of the region to TNS. We sequenced each of the 63 exons of VPS13B in affected and control dogs and found that the causative mutation in Border collies is a 4 bp deletion in exon 19 of the largest transcript that results in premature truncation of the protein. Cohen syndrome patients present with mental retardation in 99% of cases, but learning disabilities featured in less than half of TNS affected dogs. It has been implied that loss of the alternate transcript of VPS13B in the human brain utilising an alternate exon, 28, may cause mental retardation. Mice cannot be used to test this hypothesis as they do not express the alternate exon. We show that dogs do express alternate transcripts in the brain utilising an alternate exon homologous to human exon 28. Conclusion Dogs can be used as a model organism to explore the function of the alternately spliced transcript of VPS13B in the brain. TNS in Border collies is the first animal model for Cohen syndrome and can be used to study the disease aetiology.

Detection of metabolic syndrome features among childhood cancer survivors: A target to prevent disease

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Adriana Aparecida Siviero-Miachon

2008-08-01

Full Text Available Adriana Aparecida Siviero-Miachon1, Angela Maria Spinola-Castro1, Gil Guerra-Junior21Division of Pediatric Endocrinology, Department of Pediatrics, Federal University of Sao Paulo – UNIFESP/EPM, Brazil; 2Division of Pediatric Endocrinology, Department of Pediatrics, State University of Campinas – FCM/UNICAMP, BrazilAbstract: Along with the growing epidemic of obesity, the risk of atherosclerosis, cardiovascular disease morbidity, and mortality are increasing markedly. Several risk factors for cardiovascular disease, such as visceral obesity, glucose intolerance, arterial hypertension, and dyslipidemia commonly cluster together as a condition currently known as metabolic syndrome. Thus far, insulin resistance, and endothelial dysfunction are the primary events of the metabolic syndrome. Several groups have recommended clinical criteria for the diagnosis of metabolic syndrome in adults. Nonetheless, in what concerns children and adolescents, there are no unified definitions, and modified adult criteria have been suggested by many authors, despite major problems. Some pediatric disease states are at risk for premature cardiovascular disease, with clinical coronary events occurring very early in adult life. Survivors of specific pediatric cancer groups, particularly acute lymphocytic leukemia, central nervous system tumors, sarcomas, lymphomas, testicular cancer, and following bone marrow transplantation, may develop metabolic syndrome traits due to: hormonal deficiencies (growth hormone deficiency, thyroid dysfunction, and gonadal failure, drug or radiotherapy damage, endothelial impairment, physical inactivity, adipose tissue dysfunction, and/or drug-induced magnesium deficiency. In conclusion, some primary and secondary prevention remarks are proposed in order to reduce premature cardiovascular disease risk in this particular group of patients.Keywords: metabolic syndrome X, cardiovascular diseases, insulin resistance, obesity, growth hormone

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.

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)

Features of retinopathy of prematurity in a tertiary care hospital in Lahore.

Science.gov (United States)

Jamil, Ahmad Zeeshan; Tahir, Muhammad Younis; Ayub, Muhammad Hammad; Mirza, Khurram Azam

2015-02-01

To study the demographic and clinical features of Retinopathy of Prematurity in urban Punjab. The cross-sectional study was performed at Hameed Latif Hospital, Lahore, from April 2010 to October 2013 and comprised neonates born with birth weight less than 2000 g, gestational age less than 37 weeks, or those who were considered high risk for Retinopathy of Prematurity. Variables recorded included history, birth weight, gestational age, oxygen supplementation, development of Retinopathy of Prematurity, and laser treatment. Data was analysed using SPSS 17. There were 285 neonates in the study with a mean birth weight of 1280.34 ± 350.43 g and mean gestational age being 29.38 ± 3.14 weeks. Overall, 167 (58.6%) received supplemental oxygen, 86(30.2%) were anaemic and 44 (15.4%) received blood transfusion. Besides, 47 (16.5%) premature babies were product of multiple gestation, 34 (11.9%) were having respiratory distress, 25 (8.8%) had sepsis and received intravenous antibiotics, 70(24.6%) developed Retinopathy of Prematurity, and 22 (7.7%) developed threshold disease and received laser treatment at mean gestational age of 32.11 ± 2.53 weeks. Screening is key to preventing childhood blindness caused by Retinopathy of Prematurity. Prematurity, low birth weight and supplemental oxygen therapy are significant risk factors for the condition.

Risk factors of intracranial hemorrhage in premature neonates.

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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.

Neurological consequences of systemic inflammation in the premature neonate.

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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.

Neurological consequences of systemic inflammation in the premature neonate

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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.

Pathophysiology of gastroesophageal reflux disease in premature infants using a radionuclide method

International Nuclear Information System (INIS)

Ishihara, Michiomi

2001-01-01

The cases of 36 very low birthweight infants (premature group) and 52 mature infants with birth weights as low as 1500 g (mature group) with gastro-esephageal reflux disease (GERD) were reviewed. These infants received 24 hour pH monitoring, reflux scintigraphy, gastric emptying, and antrum motility measurement. The results of 24-hour pH monitoring of the premature group are not different from these of the mature group. Time required for reflux scintigraphy of the premature group is higher than that of the mature group. Emptying time of premature group is slower than that of the mature group. Dietary management in premature infants with GERD is important. Using a nasoduodenal feeding tube is quite effective. Radionuclide method, in addition to 24-hour pH monitoring, should be used to evaluate total gastroesophageal function. (author)

Pathophysiology of gastroesophageal reflux disease in premature infants using a radionuclide method

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Ishihara, Michiomi [Tokyo Metropolitan Hospital of Ohkubo (Japan)

2001-12-01

The cases of 36 very low birthweight infants (premature group) and 52 mature infants with birth weights as low as 1500 g (mature group) with gastro-esephageal reflux disease (GERD) were reviewed. These infants received 24 hour pH monitoring, reflux scintigraphy, gastric emptying, and antrum motility measurement. The results of 24-hour pH monitoring of the premature group are not different from these of the mature group. Time required for reflux scintigraphy of the premature group is higher than that of the mature group. Emptying time of premature group is slower than that of the mature group. Dietary management in premature infants with GERD is important. Using a nasoduodenal feeding tube is quite effective. Radionuclide method, in addition to 24-hour pH monitoring, should be used to evaluate total gastroesophageal function. (author)

NEONATAL ABSTINENCE SYNDROME - CASE REPORT

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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

Perspectives and attitudes of pediatricians concerning post-discharge care practice of premature infants.

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Gad, A; Parkinson, E; Khawar, N; Elmeki, A; Narula, P; Hoang, D

2017-01-01

Survival rates of premature infants are at a historical high and increasingly more pediatricians are caring for former premature infants. The goal of this study was to describe the perspectives and attitudes of pediatricians, as well as, the challenges of rendering post-neonatal intensive care unit (NICU) discharge care for premature infants. An anonymous 22-question web-based survey was emailed to pediatricians who are current members of the American Academy of Pediatrics (AAP) and practicing in Kings County, New York. There were 148 completed surveys with 79% being general pediatricians. Of all respondents, 63% believed that premature infants should have a neonatal high risk follow-up visit within days after discharge and 64% were satisfied with the NICU discharge summary acquisition. While 74% of pediatricians felt comfortable following up with former extremely premature infants, 65% referred to specialists, most often to child development, neurology, and physical and/or occupational therapy. The majority (85%) were more likely to refer premature infants to early intervention. Participating pediatricians varied in their knowledge of immunization and breastfeeding guidelines. Finally, 88% of respondents acknowledged that caregivers of premature infants experience increased stress, with 53% stating that the stress should be addressed. Understanding the perceptions and challenges of pediatricians who care for premature infants may help improve post NICU quality of care. Transition to the outpatient setting is a crucial step in the management of premature infants and a focus on improved hand-off procedures between hospital and physicians may prove beneficial. Also, pediatricians must stay abreast of current recommendations for breastfeeding and vaccinations. Furthermore, emphasis should be given to stress reduction and management for caregivers of former premature infants.

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

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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.

Relationship between maternal c-reactive protein level and neonatal outcome in patients with preterm premature rupture of membranes treated with Ampicillin and Azithromycin.

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Serdar Kutuk, Mehmet; Bastug, Osman; Ozdemir, Ahmet; Adnan Ozturk, Mehmet; Tuncay Ozgun, Mahmut; Basbug, Mustafa; Gunes, Tamer; Kurtoglu, Selim

2016-08-01

This historical cohort study aimed to assess the relationship between antenatal maternal C-reactive protein (CRP) level and neonatal outcome preterm premature rupture of membranes (PPROM). We reviewed the records of 70 singleton pregnancies with PPROM between 24 and 34 weeks. Maternal CRP levels of neonates with respiratory distress syndrome, neonatal sepsis, grade 3-4 intraventricular haemorrhage and stage 2-3 necrotizing enterocolitis, perinatal mortality were compared with those without these complications. Administration of corticosteroid, tocolysis for two days and prophylactic antibiotics (intravenous ampicillin/sulbactam, and oral azithromycin) were the standard management protocol. The mean age at PPROM was 29 weeks 2 days (±3 weeks), the mean age at birth was 30 weeks 5 days (±20 days). CRP levels were not different between groups. Uni/multivariate analysis showed that maternal CRP levels were not related with neonatal outcomes. Neonatal complications in PPROM are related with the degree of prematurity and maternal WBC counts.

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

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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

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

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

Economic analysis of the costs associated with prematurity from a literature review.

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Soilly, A L; Lejeune, C; Quantin, C; Bejean, S; Gouyon, J B

2014-01-01

To analyse published cost-of-illness studies that had assessed the cost of prematurity according to gestational age at birth. A review of the literature was carried out in March 2011 using the following databases: Medline, ScienceDirect, The Cochrane Library, Econlit and Business Source Premier, and a French Public-Health database. Key-word sequences related to 'prematurity' and 'costs' were considered. Studies that assessed costs according to the gestational age (GA) at the premature birth (prematurity (extreme, early, moderate and late). Results showed that whatever the follow-up period, costs correlated inversely with GA. They also showed considerable variability in costs within the same GA group. Differences between studies could be explained by the choices made, concerning i/the study populations, ii/contextual information, iii/and various economic criteria. Despite these variations, a global trend of costs was estimated in the short-term period using mean costs from four American studies that presented similar methodologies. Costs stand at over US$ 100,000 for extreme prematurity, between US$ 40,000 and US$ 100,000 for early prematurity, between US$ 10,000 and US$ 30,000 for moderate prematurity and below US$ 4500 for late prematurity. This review underlined not only the clear inverse relationship between costs and GA at birth, but also the difficulty to transfer the results to the French context. It suggests that studies specific to the French health system need to be carried out. Copyright © 2013 The Royal Society for Public Health. Published by Elsevier Ltd. All rights reserved.

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

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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.

Effects of prematurity on language acquisition and auditory maturation: a systematic review.

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Rechia, Inaê Costa; Oliveira, Luciéle Dias; Crestani, Anelise Henrich; Biaggio, Eliara Pinto Vieira; Souza, Ana Paula Ramos de

2016-01-01

To verify which damages prematurity causes to hearing and language. We used the decriptors language/linguagem, hearing/audição, prematurity/prematuridade in databases LILACS, MEDLINE, Cochrane Library and Scielo. randomized controlled trials, non-randomized intervention studies and descriptive studies (cross-sectional, cohort, case-control projects). The articles were assessed independently by two authors according to the selection criteria. Twenty-six studies were selected, of which seven were published in Brazil and 19 in international literature. Nineteen studies comparing full-term and preterm infants. Two of the studies made comparisons between premature infants small for gestational age and appropriate for gestational age. In four studies, the sample consisted of children with extreme prematurity, while other studies have been conducted in children with severe and moderate prematurity. To assess hearing, these studies used otoacoustic emissions, brainstem evoked potentials, tympanometry, auditory steady-state response and visual reinforcement audiometry. For language assessment, most of the articles used the Bayley Scale of Infant and Toddler Development. Most studies reviewed observed that prematurity is directly or indirectly related to the acquisition of auditory and language abilities early in life. Thus, it could be seen that prematurity, as well as aspects related to it (gestational age, low weight at birth and complications at birth), affect maturation of the central auditory pathway and may cause negative effects on language acquisition.

Risk factors for autism and Asperger syndrome. Perinatal factors and migration.

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Haglund, Nils G S; Källén, Karin B M

2011-03-01

Using the Swedish Medical Birth Registry (MBR), obstetrical and demographic information was retrieved for 250 children with autism or Asperger syndrome who were born in Malmoe, Sweden, and enrolled at the local Child and Youth Habilitation Center. The reference group consisted of all children born in Malmoe during 1980-2005. Obstetric sub-optimality (prematurity, low Apgar scores, growth restriction, or macrosomia) was positively associated with autism but not with Asperger syndrome. Maternal birth outside the Nordic countries was positively associated with autism (adjusted OR: 2.2; 95%CI: 1.6-3.1) and negatively associated with Asperger syndrome (OR: 0.6; 95%CI: 0.3-0.97). The highest risk estimate for autism was found among children to women who were born in sub-Saharan Africa (OR: 7.3), or in East Asia (OR: 3.4).

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...

PREMATURE BIRTH AS A MEDICAL AND SOCIAL HEALTHCARE PROBLEM. PART 2

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E. S. Sakharova

2017-01-01

Full Text Available Morbidity and mortality, like a frequency of long-term unfavourable psychomotor developmental outcomes is in inverse relationship with gestational age and birth weight. Now scientists give attention to the risk factors — the infection, preeclampsia, smoking, etc., to look for prevention of premature birth. The outcome of premature baby depends on the birth weight; the methodof labor and the hospital technical support also have an influence. The frequency of neurological impairments — infantile cerebral palsy, visual and hearing disorders, and probability of severe bronchopulmonary dysplasia are also in inverse relationship with gestational age and birth weight. Last decade there are many scientists give attention to the cognitive deficit and behavior disorders in adolescents, born premature. Premature infants with extremely low birth weight have developmental disorders at 8-13%. Not all of cognitive and behavioral problems have symptoms in the first years of life, but have delayed unfavourable effects. The severity of cognitive deficit not always corresponds with structural impairments of brain, detected in functional studies of premature baby in the first year of life.  

Maternal experiences with premature children in a neonatal intensive care unit

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Raphael Colares de Sá

2012-06-01

Full Text Available Objective: Understand the maternal experience with premature children in neonatal intensive care unit. Methods: This is a qualitative and descriptive study. A questionnaire was used with semi-structured interview type, analyzed by the technique of content analysis and discussed, using the theoretical framework. The sample consisted of 11 mothers who accompanied their babies every day in the Neonatal Intensive Care Unit. Results: After discourse analysis emerged the following categories: experiencing maternal feelings in relation to the baby at risk; the meaning of the neonatal unit for mothers of premature infants, maternal perceptions about prematurity and experiencing the formation of the maternal-filial bond. Conclusions:The mother of premature experiences difficult times in the face of risk and instability of the baby, causing ambivalent feelings in relation to prematurity. Nevertheless, it was found thatfeelings of happiness, love and desire to see your baby being discharged form hospital and live with his family, were significant in relation to feelings of sadness and fear of losing her child.

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.

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...

Mitochondrial dysfunction in alveolar and white matter developmental failure in premature infants.

Science.gov (United States)

Ten, Vadim S

2017-02-01

At birth, some organs in premature infants are not developed enough to meet challenges of the extra-uterine life. Although growth and maturation continues after premature birth, postnatal organ development may become sluggish or even arrested, leading to organ dysfunction. There is no clear mechanistic concept of this postnatal organ developmental failure in premature neonates. This review introduces a concept-forming hypothesis: Mitochondrial bioenergetic dysfunction is a fundamental mechanism of organs maturation failure in premature infants. Data collected in support of this hypothesis are relevant to two major diseases of prematurity: white matter injury and broncho-pulmonary dysplasia. In these diseases, totally different clinical manifestations are defined by the same biological process, developmental failure of the main functional units-alveoli in the lungs and axonal myelination in the brain. Although molecular pathways regulating alveolar and white matter maturation differ, proper bioenergetic support of growth and maturation remains critical biological requirement for any actively developing organ. Literature analysis suggests that successful postnatal pulmonary and white matter development highly depends on mitochondrial function which can be inhibited by sublethal postnatal stress. In premature infants, sublethal stress results mostly in organ maturation failure without excessive cellular demise.

Majewski osteodysplastic primordial dwarfism type II (MOPD II) syndrome previously diagnosed as Seckel syndrome: report of a novel mutation of the PCNT gene.

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Piane, Maria; Della Monica, Matteo; Piatelli, Gianluca; Lulli, Patrizia; Lonardo, Fortunato; Chessa, Luciana; Scarano, Gioacchino

2009-11-01

We report on a 3-year-old boy with prenatal onset of proportionate dwarfism, postnatal severe microcephaly, high forehead with receded hairline, sparse scalp hair, beaked nose, mild retrognathia and hypotonia diagnosed at birth as Seckel syndrome. At age 3 years, he became paralyzed due to a cerebrovascular malformation. Based on the clinical and radiological features showing evidence of skeletal dysplasia, the diagnosis was revised to Majewski osteodysplastic primordial dwarfism type II (MOPD II) syndrome. Western blot analysis of the patient's lymphoblastoid cell line lysate showed the absence of the protein pericentrin. Subsequent molecular analysis identified a novel homozygous single base insertion (c.1527_1528insA) in exon 10 of the PCNT gene, which leads to a frameshift (Treo510fs) and to premature protein truncation. PCNT mutations must be considered diagnostic of MOPD II syndrome. A possible role of pericentrin in the development of cerebral vessels is suggested. Copyright 2009 Wiley-Liss, Inc.

Bartter syndrome prenatal diagnosis based on amniotic fluid biochemical analysis.

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Garnier, Arnaud; Dreux, Sophie; Vargas-Poussou, Rosa; Oury, Jean-François; Benachi, Alexandra; Deschênes, Georges; Muller, Françoise

2010-03-01

Bartter syndrome is an autosomic recessive disease characterized by severe polyuria and sodium renal loss. The responsible genes encode proteins involved in electrolyte tubular reabsorption. Prenatal manifestations, mainly recurrent polyhydramnios because of fetal polyuria, lead to premature delivery. After birth, polyuria leads to life-threatening dehydration. Prenatal genetic diagnosis needs an index case. The aim of this study was to analyze amniotic fluid biochemistry for the prediction of Bartter syndrome. We retrospectively studied 16 amniotic fluids of Bartter syndrome-affected fetuses diagnosed after birth, only six of them being genetically proven. We assayed total proteins, alpha-fetoprotein, and electrolytes and defined a Bartter index corresponding to the multiplication of total protein and of alpha-fetoprotein. Results were compared with two control groups matched for gestational age-non-Bartter polyhydramnios (n = 30) and nonpolyhydramnios (n = 60). In Bartter syndrome, we observed significant differences (p Bartter index (0.16, 0.82, and 1.0, respectively). No statistical difference was observed for electrolytes. In conclusion, Bartter syndrome can be prenatally suspected on amniotic fluid biochemistry (sensitivity 93% and specificity 100%), allowing appropriate management before and after birth.

The effect of RO3201195 and a pyrazolyl ketone P38 MAPK inhibitor library on the proliferation of Werner syndrome cells.

Science.gov (United States)

Bagley, Mark C; Dwyer, Jessica E; Baashen, Mohammed; Dix, Matthew C; Murziani, Paola G S; Rokicki, Michal J; Kipling, David; Davis, Terence

2016-01-21

Microwave-assisted synthesis of the pyrazolyl ketone p38 MAPK inhibitor RO3201195 in 7 steps and 15% overall yield, and the comparison of its effect upon the proliferation of Werner Syndrome cells with a library of pyrazolyl ketones, strengthens the evidence that p38 MAPK inhibition plays a critical role in modulating premature cellular senescence in this progeroid syndrome and the reversal of accelerated ageing observed in vitro on treatment with SB203580.

Level of anxiety in parents of high-risk premature twins.

Science.gov (United States)

Zanardo, V; Freato, F; Cereda, C

1998-01-01

We attempted to define parental anxiety in a population of parents of high-risk premature twins (mean birth weight 1,493 +/- 227 kg; mean gestational age 33 +/- 3.5 weeks), admitted to III level NICU. We specifically examined the following factors; gestational age of the twins, whether or not the twins had ventilatory support, pulmonary sequelae, major malformations or intra-ventricular hemorrhage, parental gender and highest level of education obtained by the parent. In the immediate pre-discharge period and a month later, a questionnaire (State-Trait Anxiety Inventory) was given to all parents of premature twins presenting for the discharge. The parents of 30 twins entered the study twice, at the discharge of their first twin (mean postnatal age 40 +/- 32 days), and one month later. They included 15 mothers and 11 fathers, aged 33 +/- 5.5 and 33 +/- 4.2 years, and at the second evaluation 11 mothers and 10 fathers, respectively. As case-controls we examined parental anxiety of fifteen consecutive singleton high-risk prematures, with equal gestational age, discharged immediately after. Our results indicate that the parents of high-risk twin and singleton prematures present an elevated, lasting state-trait anxiety level. Pre- and post-discharge parental anxiety is more elevated (not significant) in twinning with respect to the prematurity alone. When assessed separately by parental gender, in both these groups an increased (not significant) anxiety was persistently found in the mothers. We recommend that, although neonatologists generally define the discharge of the high-risk premature based upon the acquired stabilization of vital parameters, they pay special attention to the twin group we have identified which is at increased risk for predischarge parental anxiety.

Hypogonadism and Sex Steroid Replacement Therapy in Girls with Turner Syndrome.

Science.gov (United States)

Gawlik, Aneta; Hankus, Magdalena; Such, Kamila; Drosdzol-Cop, Agnieszka; Madej, Paweł; Borkowska, Marzena; Zachurzok, Agnieszka; Malecka-Tendera, Ewa

2016-12-01

Turner syndrome is the most common example of hypergonadotropic hypogonadism resulting from gonadal dysgenesis. Most patients present delayed, or even absent, puberty. Premature ovarian failure can be expected even if spontaneous menarche occurs. Laboratory markers of gonadal dysgenesis are well known. The choice of optimal hormone replacement therapy in children and adolescents remains controversial, particularly regarding the age at which therapy should be initiated, and the dose and route of estrogen administration. On the basis of a review of the literature, we present the most acceptable schedule of sex steroid replacement therapy in younger patients with Turner syndrome. Copyright © 2016 North American Society for Pediatric and Adolescent Gynecology. Published by Elsevier Inc. All rights reserved.

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.

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.

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....

Specific features of physical development in extremely premature infants

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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.

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.

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

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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. 

[Buffering capacity of the vitreous body in aggressive posterior retinopathy of prematurity].

Science.gov (United States)

Amkhanitskaia, L I; Sidorenko, E I; Nikolaeva, G V; Kuznetsova, Iu D

2014-01-01

To investigate the role of vitreous body changes in the pathogenesis of aggressive posterior retinopathy of prematurity. The study included 60 children with stage 4-5 retinopathy of prematurity demonstrating either classical or aggressive posterior form of progression. In all cases vitreous samples for laboratory testing were taken during surgery. The study showed that aggressive posterior retinopathy of prematurity is associated with more significant metabolic changes in comparison with classical form of the disease. The degree of biochemical imbalance of the vitreous appeared directly related to the stage of the disease, which was determined by the type and extent of retinal detachment. Volcano-shaped retinal detachment with intensive exudation within the posterior eye segment is considered the most severe variant of aggressive posterior retinopathy of prematurity. Aggressive posterior retinopathy of prematurity is characterized by substantial disturbance of metabolism of the vitreous body, which contributes to exudation and proliferation, thus aggravating the course of the disease and worsening the prognosis.

Significance of phase-display technique for diagnosis of WPW-Syndrome

International Nuclear Information System (INIS)

Mester, J.; Mate, E.; Marosi, G.; Csernay, L.

1985-01-01

28 patients with WPW-syndrome were investigated by nuclear cardiology. Phase-display techniques were capable of visualizing and localizing ventricular preexcitations. The prematurely contraction ventricle was diagnosed in 81% of the cases concordant to the results of 12-channel ECG-technique. The control group consisted of 13 LGL-patients and revealed 3 false positives resulting in a specificity of 77%. The results were checked with respect to reproducibility. Additional projections increased the sensitivity of the method. (orig.) [de

Neonatal bartter syndrome in an extremely low birth weight baby

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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.

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...

Effect of White Noise in Relieving Vaccination Pain in Premature Infants.

Science.gov (United States)

Kucukoglu, Sibel; Aytekin, Aynur; Celebioglu, Ayda; Celebi, Arzu; Caner, Ibrahim; Maden, Rukiye

2016-12-01

The purpose of this study was to evaluate the effect of white noise as a distraction method in relieving procedural pain caused by vaccination for premature infants. This experimental study was performed at a neonatal intensive care unit (NICU) of a university hospital in Turkey between July and September 2013. The study population was composed of 75 premature infants (35 in the study group and 40 in the control group) who met the inclusion criteria. Premature infants in the study group were exposed to white noise using MP3 players placed at the head of the infants' open crib for 1 minute before vaccination. The white noise continued until 1 minute after vaccination. Premature infants in the control group were not exposed to white noise. The Premature Infant Information Form, Intervention Follow-up Form, and Premature Infant Pain Profile (PIPP) were used to collect study data. Descriptive statistics, chi-square test, and independent sample t-tests were used to evaluate the data. The pain level of the control group (PIPP = 14.35 ± 2.59) was significantly higher than the pain level of the study group (PIPP = 8.14 ± 3.14) (p White noise was found to be effective for this sample; however, there is a dire need for extensive research on white noise and its use with this vulnerable population. Copyright © 2016 American Society for Pain Management Nursing. Published by Elsevier Inc. All rights reserved.

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.

Frank-ter Haar syndrome associated with sagittal craniosynostosis and raised intracranial pressure.

Science.gov (United States)

Bendon, Charlotte L; Fenwick, Aimée L; Hurst, Jane A; Nürnberg, Gudrun; Nürnberg, Peter; Wall, Steven A; Wilkie, Andrew O M; Johnson, David

2012-11-09

Frank-ter Haar syndrome is a rare disorder associated with skeletal, cardiac, ocular and craniofacial features including hypertelorism and brachycephaly. The most common underlying genetic defect in Frank-ter Haar syndrome appears to be a mutation in the SH3PXD2B gene on chromosome 5q35.1. Craniosynostosis, or premature fusion of the calvarial sutures, has not previously been described in Frank-ter Haar syndrome. We present a family of three affected siblings born to consanguineous parents with clinical features in keeping with a diagnosis of Frank-ter Haar syndrome. All three siblings have a novel mutation caused by the deletion of exon 13 of the SH3PXD2B gene. Two of the three siblings also have non-scaphocephalic sagittal synostosis associated with raised intracranial pressure. The clinical features of craniosynostosis and raised intracranial pressure in this family with a confirmed diagnosis of Frank-ter Haar syndrome expand the clinical spectrum of the disease. The abnormal cranial proportions in a mouse model of the disease suggests that the association is not coincidental. The possibility of craniosynostosis should be considered in individuals with a suspected diagnosis of Frank-ter Haar syndrome.

The preterm pig as a model of premature infant gait ataxia

DEFF Research Database (Denmark)

Bergström, A.; Ryom, K.; Vanden Hole, C.

Aims/background Compromised gait, balance and motor coordination (ataxia) as observed in cases of cerebral palsy is a serious complication to premature birth. The cerebellum is a central region with regards to these brain functions and its development shows high sensitivity to premature birth. Our...... group has over many years refined a pig model of premature birth focusing on gut and immune system development. Phenotypically, we have observed distinct motoric problems e.g. falls, tiptoe walking and swaying in preterm pigs relative to term born counterparts, indicating compromised brain function...

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)

Caffeine is a risk factor for osteopenia of prematurity in preterm infants: a cohort study.

Science.gov (United States)

Ali, Ebtihal; Rockman-Greenberg, Cheryl; Moffatt, Michael; Narvey, Michael; Reed, Martin; Jiang, Depeng

2018-01-22

Caffeine, the most commonly used medication in Neonatal Intensive Care Units, has calciuric and osteoclastogenic effects. To examine the association between the cumulative dose and duration of therapy of caffeine and osteopenia of prematurity, a retrospective cohort study was conducted including premature infants less than 31 weeks and birth weight less than 1500 g. Osteopenia of prematurity was evaluated using chest X-rays on a biweekly basis over 12 weeks of hospitalization. The cohort included 109 infants. 51% had osteopenia of prematurity and 8% had spontaneous rib fractures. Using the generalized linear mixed model, caffeine dose and duration of caffeine therapy showed a strong association with osteopenia of prematurity. Steroids and vitamin D were also significantly correlated with osteopenia of prematurity while diuretic use did not show a statistically significant effect. The cumulative dose and duration of therapy of caffeine, as well as steroid are associated with osteopenia of prematurity in this cohort. Future studies are needed to confirm these findings and determine the lowest dose of caffeine needed to treat effectively apnea of prematurity.

The influence of premature loss of temporary upper molars on permanent molars.

Science.gov (United States)

Cernei, E R; Maxim, Dana Cristiana; Zetu, Irina Nicoleta

2015-01-01

Premature loss of primary molars due to dental caries and their complications has been associated with space loss and eruptive difficulties, especially when the loss occurs early. The aim of our study was to determine the impact of premature loss of temporary upper molars upon the longitudinal axis of the first and second upper permanent molar. The study group included 64 patients 6-9 years old with premature loss of primary molars and a control group of 48 patients with intact temporary teeth. It was evaluated the angle between longitudinal axis of first and second upper permanent molars and occlusal plane. The sofware used is Easy Dent 4 Viewer®.The data were analyzed by using the Statistical Package for the Social Sciences (version 20.0; SPSS, Chicago, III). It was observed that premature loss of upper second deciduous molars modifies greater the vertical axis of the permanent molars than the premature loss of first upper primary molar. First upper primary molar loss cause an acceleration eruption of first premolar, which will produce a distal inclintion of the both permanent molars. The use of space maintainers after premature loss of the second upper temporary molar is a last solution in preventing tridimensional lesions in the dental arch and occlusion.

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

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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.

Resting-state functional connectivity differences in premature children

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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.

Indices of Neonatal Prematurity as Discriminators of Development in Middle Childhood

Science.gov (United States)

Taub, Harvey B.; And Others

1977-01-01

The comparative value of various parameters of neonatal prematurity for differentiating intellective, scholastic, and social functioning in middle childhood was assessed for a sample of 38 prematurely born and 26 maturely born subjects aged 7 to 9.5 years. (Author/JMB)

Disease: H00741 [KEGG MEDICUS

Lifescience Database Archive (English)

Full Text Available H00741 Ichthyosis prematurity syndrome Ichthyosis prematurity syndrome is a form o...onnevig J, Johnsson M, Sitek JC, Blaas HG, Hausser I, Johansen FE, Jahnsen FL ... TITLE ... Ichthyosis prematurity...e cause the ichthyosis prematurity syndrome. ... JOURNAL ... Am J Hum Genet 85:248-53 (2009) DOI:10.1016/j.ajhg.2009.06.021 ...Dahl N, Fischer J ... TITLE ... Mutations in the fatty acid transport protein 4 gen

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…

Family history of premature death and risk of early onset cardiovascular disease.

Science.gov (United States)

Ranthe, Mattis Flyvholm; Carstensen, Lisbeth; Oyen, Nina; Tfelt-Hansen, Jacob; Christiansen, Michael; McKenna, William J; Wohlfahrt, Jan; Melbye, Mads; Boyd, Heather A

2012-08-28

The purpose of this study was to examine the effect of a family history of premature death, cardiovascular death in particular, on the risk of early cardiovascular disease. Studies suggest that fatal cardiovascular events and less severe cardiovascular diseases may co-occur in families. Consequently, a family history of premature death may indicate a familial cardiac frailty that predisposes to early cardiovascular disease. We ascertained family history of premature death (age Denmark from 1950 to 2008 and followed this cohort for early cardiovascular disease (age history of premature cardiovascular death in first-degree relatives were 1.72 (95% confidence interval [CI]: 1.68 to 1.77), 2.21 (95% CI: 2.11 to 2.31), and 1.94 (95% CI: 1.70 to 2.20), respectively. With ≥2 cardiovascular deaths in a family, corresponding IRRs were 3.30 (95% CI: 2.77 to 3.94), 5.00 (95% CI: 3.87 to 6.45), and 6.18 (95% CI: 3.32 to 11.50). The IRR for any early cardiovascular disease given a family history of premature noncardiovascular death was significantly lower, 1.12 (95% CI: 1.10 to 1.14) (p(cardiac vs. noncardiac) history of premature cardiovascular death was consistently and significantly associated with a risk of early cardiovascular disease, suggesting an inherited cardiac vulnerability. These results should be kept in mind when assessing cardiovascular disease risk in persons with a family history of premature cardiovascular death. Copyright © 2012 American College of Cardiology Foundation. Published by Elsevier Inc. All rights reserved.

Fetal blood vessel count increases in compensation of hypoxia in premature placentas

Directory of Open Access Journals (Sweden)

K. Kartini

2015-04-01

Full Text Available Background Prematurity refers to live births before 37 weeks of gestation, wherein the baby is born before the body and its organ systems achieve perfect maturity, and this disorder is still a global problem. The high incidence of prematurity is a problem in developing and also in developed countries. Certain conditions accompanying pregnancies like preeclampsia, infection, and placental insufficiency, may trigger uterine hypoxia, causing premature birth. The placental condition is related to the intra-uterine fetal condition. In prolonged placental hypoxia, there occurs a compensatory mechanism, i.e. an increase in placental angiogenesis. This study aimed to evaluate the effect of hypoxia on fetal blood vessel count as compensatory mechanism for tissue hypoxia. Methods An observational-analytical cross-sectional design using paraffin blocks of conserved premature placentas, comprising 31 samples of hypoxic premature placentas and 28 samples of non-hypoxic premature placentas, selected using non-random consecutive sampling. The samples were made into slides and stained with hematoxylin-eosin for assessment of histological structure, including fetal blood vessel count and integrity, villus conditions, syncytiotrophoblastic nuclear changes, and syncytiotrophoblastic nuclear aggregation. Mann-Whitney test was used to compare the difference of blood vessel count between groups. Results Assessment of histological structure showed a significant increase in fetal blood vessel count in the hypoxic group [8.00 (5-15] as compared with the non-hypoxic group [7.50 (3-15]. Conclusion The hypoxia in premature placentas caused an increase in the number of fetal blood vessels as a form of compensation for disturbed oxygen homeostasis.

Fetal blood vessel count increases in compensation of hypoxia in premature placentas

Directory of Open Access Journals (Sweden)

K Kartini

2016-02-01

Full Text Available BACKGROUND Prematurity refers to live births before 37 weeks of gestation, wherein the baby is born before the body and its organ systems achieve perfect maturity, and this disorder is still a global problem. The high incidence of prematurity is a problem in developing and also in developed countries. Certain conditions accompanying pregnancies like preeclampsia, infection, and placental insufficiency, may trigger uterine hypoxia, causing premature birth. The placental condition is related to the intra-uterine fetal condition. In prolonged placental hypoxia, there occurs a compensatory mechanism, i.e. an increase in placental angiogenesis. This study aimed to evaluate the effect of hypoxia on fetal blood vessel count as compensatory mechanism for tissue hypoxia. METHODS An observational-analytical cross-sectional design using paraffin blocks of conserved premature placentas, comprising 31 samples of hypoxic premature placentas and 28 samples of non-hypoxic premature placentas, selected using non-random consecutive sampling. The samples were made into slides and stained with hematoxylin-eosin for assessment of histological structure, including fetal blood vessel count and integrity, villus conditions, syncytiotrophoblastic nuclear changes, and syncytiotrophoblastic nuclear aggregation. Mann-Whitney test was used to compare the difference of blood vessel count between groups. RESULTS Assessment of histological structure showed a significant increase in fetal blood vessel count in the hypoxic group [8.00 (5-15] as compared with the non-hypoxic group [7.50 (3-15]. CONCLUSION The hypoxia in premature placentas caused an increase in the number of fetal blood vessels as a form of compensation for disturbed oxygen homeostasis.

Prevalence and outcomes of laser treatment of aggressive posterior retinopathy of prematurity.

Science.gov (United States)

Gunn, David J; Cartwright, David W; Gole, Glen A

2014-07-01

To describe outcomes in a cohort of extremely premature infants treated for aggressive posterior retinopathy of prematurity by diode laser panretinal photocoagulation. Retrospective study. Fifteen eyes in eight infants. A review was carried out on infants between 23 and 25.6 weeks gestational age admitted to The Royal Brisbane and Women's Hospital neonatal intensive care unit between 1992 and 2009. Success of treatment, visual and refractive outcomes. Five hundred fifty-four infants were admitted to neonatal intensive care unit, 373 survived till screening, and 304 had retinopathy of prematurity. Sixty-six infants required treatment, and eight of these had aggressive posterior retinopathy of prematurity (2.5% of all infants with retinopathy of prematurity). Mean gestational age was 24.2 weeks, mean birthweight was 634 g, and treatment occurred at mean 34.1 weeks post-menstrual age. The mean total number of burns per eye was 2967. Five of 15 treated eyes required retreatment. Two patients subsequently died of unrelated causes. Regression occurred in 9 of 11 remaining eyes; one eye progressed to stage 4b and another to stage 5 retinopathy of prematurity. Vitrectomy was performed in two eyes. Five eyes had 6/12 vision, one had 3/60, and three had no perception of light. Of the remaining two eyes, one had good fixation and the other had poor fixation. Despite good structural outcomes, visual outcomes for conventional laser treatment of aggressive posterior retinopathy of prematurity are poor. © 2013 Royal Australian and New Zealand College of Ophthalmologists.

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…

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.

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

Werner’s syndrome: A case report and review of literature

Directory of Open Access Journals (Sweden)

Farhana Tahseen Taj

2018-04-01

Full Text Available Werner’s Syndrome also known as Pangeria is an autosomal recessive disorder characterized by premature aging, increased risk of malignancies and atherosclerosis. The Global incidence rate is less than 1 in 100,000 live births. The incidence is higher in Japan and Sardinia affecting 1 in 20,000 – 40,000 live births and 1 in 50,000 live births respectively. Individuals with this disorder typically grow and develop normally until they reach puberty. Affected individual usually do not have a growth spurt, resulting in short stature. The characteristic aged appearance typically begins to develop when they are in their twenties and includes graying and loss of hair, a hoarse voice, and thin, hardened skin. They may also have a facial appearance described as “bird-like facies.” Werner’s Syndrome has been described as “Caricature of ageing” by Epstein et al. 1996. An OMIM number # has been assigned to Werner’s Syndrome with phenotype MIM number 277700 (OMIM#277700.

A patient with Werner syndrome and adiponectin gene mutation.

Science.gov (United States)

Hashimoto, Naotake; Hatanaka, Sachiko; Yokote, Koutaro; Kurosawa, Hiroko; Yoshida, Tomohiko; Iwai, Rie; Takahashi, Hidenori; Yoshida, Katsuya; Horie, Atsuya; Sakurai, Kenichi; Yagui, Kazuo; Saito, Yasushi; Yoshida, Shouji

2007-01-01

Werner syndrome is a premature aging disease characterized by genomic instability and increased cancer risk. Here, we report a 45-year-old diabetic man as the first Werner syndrome patient found to have an adiponectin gene mutation. Showing graying and loss of hair, skin atrophy, and juvenile cataract, he was diagnosed with Werner syndrome type 4 by molecular analysis. His serum adiponectin concentration was low. In the globular domain of the adiponectin gene, I164T in exon 3 was detected. When we examined effects of pioglitazone (15 mg/day) on serum adiponectin multimer and monomer concentrations using selective assays, the patient's relative percentage increased in adiponectin concentration was almost same as that in the 18 diabetic patients without an adiponectin mutation, but the absolute adiponectin concentration was half of those seen in diabetic patients treated with the same pioglitazone dose who had no adiponectin mutation. The response suggested that pioglitazone treatment might help to prevent future Werner syndrome-related acceleration of atherosclerosis. Present and further clinical relevant to atherosclerosis in this patient should be imformative concerning the pathogenesis and treatment of atherosclerosis in the presence of hypoadiponectinemia and insulin resistance.

[Estimation on the indirect economic burden of disease-related premature deaths in China, 2012].

Science.gov (United States)

Yang, Juan; Feng, Luzhao; Zheng, Yaming; Yu, Hongjie

2014-11-01

To estimate the indirect economic burden of disease-related premature deaths in China, 2012. Both human capital approach and friction cost methods were used to compute the indirect economic burden of premature deaths from the following sources: mortality from the national disease surveillance system in 2012, average annual income per capita from the China Statistic Yearbook in 2012, population size from the 2010 China census, and life expectancy in China from the World Health Organization life table. Data from the Human Capital Approach Estimates showed that the indirect economic burden of premature deaths in China was 425.1 billion in 2012, accounting for 8‰ of the GDP. The indirect economic burden of chronic non-communicable diseases associated premature deaths was accounted for the highest proportion(67.1%, 295.4 billion), followed by those of injuries related premature deaths (25.6% , 108.9 billion), infectious diseases, maternal and infants diseases, and malnutrition related deaths (6.4% , 26.9 billion). The top five premature deaths that cause the indirect economic burden were malignancy, cardiovascular diseases, unintentional injuries, intentional injuries, and diseases of the respiratory system. The indirect economic burden of premature deaths mainly occurred in the population of 20-59 year-olds. Under the Friction Cost method, the estimates appeared to be 0.11%-3.49% of the total human capital approach estimates. Premature death caused heavy indirect economic burden in China. Chronic non-communicable diseases and injuries seemed to incur the major disease burden. The indirect economic burden of premature deaths mainly occurred in the working age group.

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

Extrauterine growth restriction: Universal problem among premature infants

Directory of Open Access Journals (Sweden)

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

Role of VEGF Inhibition in the Treatment of Retinopathy of Prematurity.

Science.gov (United States)

Eldweik, Luai; Mantagos, Iason S

2016-01-01

Retinopathy of prematurity (ROP) is a potentially blinding disease characterized by retinal neovascularization, which eventually can lead to tractional retinal detachment. Improvements have been made regarding the management of retinopathy of prematurity (ROP) since it was described in the Cryotherapy for Retinopathy of Prematurity study. A more appropriate time for therapeutic intervention was defined by the Early Treatment for Retinopathy of Prematurity (ETROP) trial. Advances in screening strategies with the use of digital imaging systems are now available. All of this and the use of laser photocoagulation and vitreoretinal surgery have contributed to significant increases in favorable outcomes and decreases in child blindness secondary to ROP. Recently the use of vascular endothelial growth factor (VEGF) inhibitors has been introduced to the armamentarium for the treatment of ROP. The purpose of this review article is to evaluate the role of VEGF inhibition in the treatment of ROP.

Neonatal Bartter syndrome with cholelithiasis and hydrocephalus: Rare association.

Science.gov (United States)

Özdemir, Özmert Ma; Çıralı, Ceren; Yılmaz Ağladıoğlu, Sebahat; Evrengül, Havva; Tepeli, Emre; Ergin, Hacer

2016-09-01

Neonatal Bartter syndrome (NBS) is a rare autosomal recessive renal tubular disorder. This disease is characterized by hypokalemia, hypochloremia, and metabolic alkalosis that is often associated with failure to thrive and recurrent episodes of dehydration. The combination of BS and cholelithiasis in an infant is very rare. Herein, we report a premature male infant with NBS who developed cholelithiasis and hydrocephalus on clinical follow up. We recommend that periodic routine hepatobiliary ultrasonograpic screening for cholelithiasis should be performed in patients with NBS. © 2016 Japan Pediatric Society.

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.

Early increased density of cyclooxygenase-2 (COX-2 immunoreactive neurons in Down syndrome

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Maria Mulet

2017-06-01

Full Text Available Neuroinflammation is one of the hallmarks of Alzheimer’s disease. One of the enzymes involved in neuroinflammation, even in early stages of the disease, is COX-2, an inducible cyclooxygenase responsible for the generation of eicosanoids and for the generation of free radicals. Individuals with Down syndrome develop Alzheimer’s disease early in life. Previous studies pointed to the possible overexpression of COX-2 and correlated it to brain regions affected by the disease. We analysed the COX-2 expression levels in individuals with Down syndrome and in young, adult and old mice of the Ts65Dn mouse model for Down syndrome. We have observed an overexpression of COX-2 in both, Down syndrome individuals and mice. Importantly, mice already presented an overexpression of COX-2 at postnatal day 30, before neurodegeneration begins; which suggests that neuroinflammation may underlie the posterior neurodegeneration observed in individuals with Down syndrome and in Ts65Dn mice and could be a factor for the premature appearance of Alzheimer’s disease.

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.

Brain CT studies in 26 cases of aged patients with Down syndrome

International Nuclear Information System (INIS)

Arai, Yukio; Yoshihara, Sachiko; Iinuma, Kazuso.

1995-01-01

Computed tomographic images of brains from 26 individuals (10 males and 16 females) with Down syndrome were analysed for roentgenographic measurement. Their ages ranged from 14 to 47 years, the average being 28 years. The results showed that their Sylvian fissure ratio was larger in the aged group. A high incidence of calcification in basal ganglia, choroid plexus and pineal body was noted (85%). An increased Sylvian fissure ratio and a high incidence of intracranial calcification may be practically used as representatives of premature aging. Furthermore, a high incidence of mega cisterna magna implicates that it is worthy of study whether individuals with Down syndrome have a predisposition to underdevelopment of cerebellum. (author)

[Clinical features of a Chinese pedigree with Waardenburg syndrome type 2].

Science.gov (United States)

Yang, Shu-zhi; Yuan, Hui-jun; Bai, Lin-na; Cao, Ju-yang; Xu, Ye; Shen, Wei-dong; Ji, Fei; Yang, Wei-yan

2005-10-12

To investigate detailed clinical features of a Chinese pedigree with Waardenburg syndrome type 2. Members of this pedigree were interviewed to identify personal or family medical histories of hearing loss, the use of aminoglycosides, and other clinical abnormalities by filling questionnaire. The audiological and other clinical evaluations of the proband and other members of this family were conducted, including pure-tone audiometry, immittance and auditory brain-stem response and ophthalmological, dermatologic, hair, temporal bone CT examinations. This family is categorized as Waardenburg syndrome type 2 according to its clinical features. It's an autosomal dominant disorder with incomplete penetrance. The clinical features varied greatly among family members and characterized by sensorineural hearing loss, heterochromia irides, freckle on the face and premature gray hair. Hearing loss can be unilateral or bilateral, congenital or late onset in this family. This Chinese family has some unique clinical features comparing with the international diagnostic criteria for Waardenburg syndrome. This study may provide some evidences to amend the diagnostic criteria for Waardenburg syndrome in Chinese population.

Bibliometric analysis of theses and dissertations on prematurity in the Capes database.

Science.gov (United States)

Pizzani, Luciana; Lopes, Juliana de Fátima; Manzini, Mariana Gurian; Martinez, Claudia Maria Simões

2012-01-01

To perform a bibliometric analysis of theses and dissertations on prematurity in the Capes database from 1987 to 2009. This is a descriptive study that used the bibliometric approach for the production of indicators of scientific production. Operationally, the methodology was developed in four steps: 1) construction of the theoretical framework; 2) data collection sourced from the abstracts of theses and dissertations available in the Capes Thesis Database which presented the issue of prematurity in the period 1987 to 2009; 3) organization, processing and construction of bibliometric indicators; 4) analysis and interpretation of results. Increase in the scientific literature on prematurity during the period 1987 to 2009; production is represented mostly by dissertations; the institution that received prominence was the Universidade de São Paulo. The studies are directed toward the low birth weight and very low birth weight preterm newborn, encompassing the social, biological and multifactorial causes of prematurity. There is a qualified, diverse and substantial scientific literature on prematurity developed in various graduate programs of higher education institutions in Brazil.

Computer-Assisted Digital Image Analysis of Plus Disease in Retinopathy of Prematurity.

Science.gov (United States)

Kemp, Pavlina S; VanderVeen, Deborah K

2016-01-01

The objective of this study is to review the current state and role of computer-assisted analysis in diagnosis of plus disease in retinopathy of prematurity. Diagnosis and documentation of retinopathy of prematurity are increasingly being supplemented by digital imaging. The incorporation of computer-aided techniques has the potential to add valuable information and standardization regarding the presence of plus disease, an important criterion in deciding the necessity of treatment of vision-threatening retinopathy of prematurity. A review of literature found that several techniques have been published examining the process and role of computer aided analysis of plus disease in retinopathy of prematurity. These techniques use semiautomated image analysis techniques to evaluate retinal vascular dilation and tortuosity, using calculated parameters to evaluate presence or absence of plus disease. These values are then compared with expert consensus. The study concludes that computer-aided image analysis has the potential to use quantitative and objective criteria to act as a supplemental tool in evaluating for plus disease in the setting of retinopathy of prematurity.

AXIAL MODIFICATIONS OF PERMANENT LOWER MOLARS AFTER PREMATURE LOSSES OF TEMPORARY MOLARS.

Science.gov (United States)

Cernei, E R; Mavru, R B; Zetu, Irina Nicoleta

2016-01-01

The aim of our study was to determine the impact of premature loss of temporary lower molars upon the longitudinal axis of the first and second permanent molars. The study groups included 61 patients, 6-9 year olds with premature loss of primary molars and a control group of 24 patients with intact temporary teeth. We evaluated the angle between longitudinal axis of first and second lower permanent molars and occlusal plane. It was observed that premature loss of lower second deciduous molar modifies more the vertical axis of first and second permanent molars than the premature loss of first lower primary molar. Reducing space occurs mainly through mesial inclination of molars that separates the edentulous breach. Temporary loss of both lower first molars on the same quadrant causes an accelerated eruption of both premolars increasing the prevalence of eruption sequence: "4-5-3-7". The preservation of the occlusal morpho-functional complex using space maintainers mainly when the premature loss of the second primary molars occurs is the best interceptive treatment option.

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.

Decreased risk of prematurity after elective repeat cesarean delivery in Hispanics.

Science.gov (United States)

Vilchez, Gustavo; Chelliah, Anushka; Bratley, Elaine; Bahado-Singh, Ray; Sokol, Robert

2015-01-01

The current recommendation is to delay elective repeat cesarean deliveries (ERCD) until 39 weeks to decrease prematurity risks. Prior reports suggest accelerated maturity of fetuses according to race (African-Americans and Asians). To analyze the effect of the Hispanic ethnicity on the prematurity risk after ERCD. The US Natality Database from 2004 to 2008 was reviewed. Inclusion criteria were singleton delivery, no trial of labor, repeat cesarean. Exclusion criteria were fetal anomalies, history of diabetes/hypertension related disorders. Outcomes analyzed were Apgar score, assisted ventilation, intensive care admission, surfactant/antibiotic use and seizures. Two groups were identified: non-Hispanic Whites (NHW) and Hispanic Whites (HW). Regression analysis was performed to calculate adjusted odds ratios. Deliveries at 36-40 weeks were studied with 40 weeks as the reference group. A total of 930421 ERCDs were identified, 396823 NHW and 236733 HW. For NHW, the risk of prematurity was lower at 39 weeks. For HW, there was no difference in the risks of prematurity at/beyond 38 weeks. There appears to be accelerated maturity with no increase in prematurity risk at 38 weeks in HW delivered by ERCD. Ethnicity can be considered for patient counseling and decision making regarding optimal timing of elective interventions.

Prevalence and Determinants of Premature Menopause among Indian Women: Issues and Challenges Ahead.

Science.gov (United States)

Jungari, Suresh Banayya; Chauhan, Bal Govind

2017-05-01

Premature menopause refers to the occurrence of menopause in women less than 40 years of age. This heterogeneous disorder affects 1 percent and 0.1 percent of women less than 40 and 30 years of age, respectively. The study reported in this article attempts to understand the prevalence and determinants of premature menopause among Indian women by studying the effects of various socioeconomic indicators, such as age, education, wealth index, rural-urban settlement, work status, religion, and caste, on women. The study analyzed the National Family Health Survey-3, which is equivalent to the Demographic Health Survey in India. Bivariate and logistic regression analyses were performed to tease out the determinants of premature menopause. Results indicate that the percentage of premature menopause is very high (5.5 percent) among Indian women. Among Indian states, Andhra Pradesh women have the highest percentage of premature menopause (14.6 percent). Smoking and the nutritional status of women are strongly associated with early menopause. Furthermore, women living in rural areas and using tobacco are at a greater risk of premature menopause. © 2017 National Association of Social Workers.

Mathematical modelling of thermoregulation processes for premature infants in closed convectively heated incubators.

Science.gov (United States)

Fraguela, Andrés; Matlalcuatzi, Francisca D; Ramos, Ángel M

2015-02-01

The low-weight newborns and especially the premature infants have difficulty in maintaining their temperature in the range considered to be normal. Several studies revealed the importance of thermal environment and moisture to increase the survival rate of newborns. This work models the process of heat exchange and energy balance in premature newborns during the first hours of life in a closed incubator. In addition, a control problem was proposed and solved in order to maintain thermal stability of premature newborns to increase their rate of survival and weight. For this purpose, we propose an algorithm to control the temperature inside the incubator. It takes into account the measurements of the body temperature of a premature newborn which are recorded continuously. We show that using this model the temperature of a premature newborn inside the incubator can be kept in a thermal stability range. Copyright © 2014. Published by Elsevier Ltd.

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

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...

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

Neuro-ophthalmic manifestations of prematurity

Directory of Open Access Journals (Sweden)

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.

Valve-sparing aortic root replacement in Marfan syndrome.

Science.gov (United States)

Cameron, Duke E; Vricella, Luca A

2005-01-01

Marfan syndrome is the most common inherited connective tissue disorder, affecting approximately 1 in 10,000 live births. The cardinal features of Marfan syndrome are the abnormalities of the skeleton (tall stature, arachnodactyly, and joint hyperelasticity), eye (lens subluxation), and aorta (root aneurysm with proclivity toward rupture and dissection). Aortic catastrophe accounts for most of the premature mortality among Marfan patients, a risk that climbs steeply during adolescence and results in death of half of Marfan patients by the age of 40 years. Most of the improvement in life expectancy that has been achieved in Marfan syndrome is attributable to early recognition of aortic root aneurysms and prophylactic replacement with composite grafts (mechanical valve prostheses within Dacron conduits) before rupture or dissection occurs. Despite the excellent early and late results with composite grafts, there has been growing interest in operative procedures that replace the sinuses but preserve the aortic valve leaflets, to avoid anticoagulation and minimize the risk of prosthesis-related endocarditis. These procedures are still in evolution and late results are not yet known, but as with mitral repair in the setting of myxomatous disease, valve-sparing procedures in Marfan syndrome have weathered a storm of initial criticism and skepticism and are steadily gaining acceptance.

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

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…

Level of C - reactive protein as an indicator for prognosis of premature uterine contractions.

Science.gov (United States)

Najat Nakishbandy, Bayar M; Barawi, Sabat A M

2014-01-01

high concentrations of maternal C-reactive protein have been associated with adverse pregnancy outcome, and premature uterine contraction may be predicted by elevated levels of C-reactive protein. This may ultimately be simple and cost-effective enough to introduce as a low-risk screening program. an observational case control study was performed from May 1st, 2010 to December 1st, 2010 at Maternity Teaching Hospital-Erbil/ Kurdistan Region/ Iraq. The sample size was (200) cases. Hundred of them were presented with premature uterine contractions at 24(+0)-36(+6) weeks. The other hundred were control group at same gestational ages. The level of C-reactive protein was determined in both groups and both groups were followed till delivery. (93) out of (100) women with premature uterine contractions had elevated level of C-Reactive protein and 91% delivered prematurely while in the control group only (9) out of (100) women had elevated level of C-reactive protein and only 8% of them delivered preterm. Differences were statistically highly significant. C-reactive protein can be used as a biomarker in prediction of premature delivery when it is associated with premature uterine contractions. As well it can be used as a screening test to detect cases that are at risk of premature delivery.

Risk factors for premature birth in French Guiana: the importance of reducing health inequalities.

Science.gov (United States)

Leneuve-Dorilas, Malika; Favre, Anne; Carles, Gabriel; Louis, Alphonse; Nacher, Mathieu

2017-11-27

French Guiana has the highest birth rate in South America. This French territory also has the highest premature birth rate and perinatal mortality rate of all French territories. The objective was to determine the premature birth rate and to identify the prevalence of risk factors of premature birth in French Guiana. A retrospective study of all births in French Guiana was conducted between January 2013 and December 2014 using the computerized registry compiling all live births over 22 weeks of gestation on the territory. During this period 12 983 live births were reported on the territory. 13.5% of newborns were born before 37 (1755/12 983). The study of the registry revealed that common sociodemographic risk factors of prematurity were present. In addition, past obstetrical history was also important: a scarred uterus increased the risk of prematurity adjusted odds ratio =1.4, 95%CI (1.2-1.6). Similarly, obstetrical surveillance, the absence of preparation for birth or of prenatal interview increased the risk of prematurity by 2.4 and 2.3, the excess fraction in the population was 69% and 72.2%, respectively. Known classical risk factors are important. In the present study excess fractions were calculated in order to prioritize interventions to reduce the prematurity rate.

Chorioamniotic membrane separation and preterm premature rupture of membranes complicating in utero myelomeningocele repair.

Science.gov (United States)

Soni, Shelly; Moldenhauer, Julie S; Spinner, Susan S; Rendon, Norma; Khalek, Nahla; Martinez-Poyer, Juan; Johnson, Mark P; Adzick, N Scott

2016-05-01

Since the results of the Management of Myelomeningocele Study were published, maternal-fetal surgery for the in utero treatment of spina bifida has become accepted as a standard of care alternative. Despite promise with fetal management of myelomeningocele repair, there are significant complications to consider. Chorioamniotic membrane separation and preterm premature rupture of membranes are known complications of invasive fetal procedures. Despite their relative frequency associated with fetal procedures, few data exist regarding risk factors that may be attributed to their occurrence or the natural history of pregnancies that are affected with chorionic membrane separation or preterm premature rupture of membranes related to the procedure. The objective of this study was to review chorioamniotic membrane separation and preterm premature rupture of membranes in a cohort of patients undergoing fetal management of myelomeningocele repair including identification of risk factors and outcomes. This was a retrospective review of patients undergoing fetal management of myelomeningocele repair and subsequent delivery from January 2011 through December 2013 at 1 institution. Patients were identified through the institutional fetal management of myelomeningocele repair database and chart review was performed. Perioperative factors and outcomes among patients with chorioamniotic membrane separation and preterm premature rupture of membranes were compared to those without. Risk factors associated with the development of chorioamniotic membrane separation and preterm premature rupture of membranes were determined. A total of 88 patients underwent fetal management of myelomeningocele repair and subsequently delivered during the study period. In all, 21 patients (23.9%) were diagnosed with chorioamniotic membrane separation by ultrasound and preterm premature rupture of membranes occurred in 27 (30.7%). Among the chorioamniotic membrane separation patients, 10 (47.6%) were

Metabolomics of prematurity: analysis of patterns of amino acids, enzymes, and endocrine markers by categories of gestational age.

Science.gov (United States)

Wilson, Kumanan; Hawken, Steven; Ducharme, Robin; Potter, Beth K; Little, Julian; Thébaud, Bernard; Chakraborty, Pranesh

2014-02-01

Prematurity may influence the levels of amino acids, enzymes, and endocrine markers obtained through newborn screening. Identifying which analytes are the most affected by degree of prematurity could provide insight into how prematurity impacts metabolism. Analytes from blood spots assayed by Newborn Screening Ontario between March 2006 and April 2009 were used in this analysis. We examined the associations between the degree of prematurity and the levels of amino acids, enzymes, and endocrine markers in all newborns with and without adjustment for birth weight, feeding status, sample timing, transfusion, and sex. Our analysis included the following cohorts: 373,819 children born at term (>36 wk gestation), 26,483 near-term children (33-36 wk gestation), 4,354 very premature children (28-32 wk gestation), and 1,146 extremely premature children (prematurity, the levels of three amino acids (arginine, leucine, and valine) were at least 50% different between the cohorts of extremely premature and term children. The levels of 17-hydroxyprogesterone increased with increasing prematurity, while thyrotropin-stimulating hormone values consistently decreased with increasing prematurity. None of the three enzyme markers we examined showed a trend in levels across categories of prematurity. This study demonstrates that children at different stages of prematurity are metabolically distinct. Future research should focus on the mechanism by which specific analytes are influenced by prematurity.

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.).

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.

DENGUE DURING PREGNANCY: ASSOCIATION WITH LOW BIRTH WEIGHT AND PREMATURITY

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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.

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

Altered Amygdala Development and Fear Processing in Prematurely Born Infants

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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

Antiphospholipid Syndrome during pregnancy: the state of the art

Science.gov (United States)

Di Prima, Fosca A. F.; Valenti, Oriana; Hyseni, Entela; Giorgio, Elsa; Faraci, Marianna; Renda, Eliana; De Domenico, Roberta; Monte, Santo

2011-01-01

Obstetric complications are the hallmark of antiphospholipid syndrome. Recurrent miscarriage, early delivery, oligohydramnios, prematurity, intrauterine growth restriction, fetal distress, fetal or neonatal thrombosis, pre-eclampsia/eclampsia, HELLP syndrome, arterial or venous thrombosis and placental insufficiency are the most severe APS-related complication for pregnant women. Antiphospholipid antibodies promote activation of endothelial cells, monocytes and platelets, causing an overproduction of tissue factor and thromboxane A2. Complement activation might have a central pathogenetic role. These factors, associated with the typical changes in the hemostatic system during normal pregnancy, result in a hypercoagulable state. This is responsible of thrombosis that is presumed to provoke many of the pregnancy complications associated with APS. Obstetric care is based on combined medical-obstetric high-risk management and treatment with the association between aspirin and heparin. This review aims to deter- mine the current state of the art of APS by investigating the knowledge achievements of recent years, to provide the most appropriate diagnostic and therapeutic management for pregnant women suffering from this syndrome. PMID:22439075

Diagnosis and treatment of polycystic ovarian syndrome in adolescents.

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Nicandri, Katrina F; Hoeger, Kathleen

2012-12-01

To review what is understood about the pathophysiology of polycystic ovarian syndrome (PCOS), the diagnostic challenges of PCOS in adolescent women, associated risk factors, as well as the best evidence-based treatment options for adolescence. Diagnosing PCOS in adolescents requires a unique set of criteria for which no single marker currently exists. Adolescents at high risk for developing the syndrome are congenital virilization, low birth weight, premature pubarche, central precocious puberty, large for gestational age girls born to overweight mothers, obesity syndromes, insulin-resistant features, and girls born to parents with PCOS, central obesity, or diabetes in whom PCOS ought to be suspected when associated with irregular menses. Insulin, hyperandrogenemia, and adipocytokines are integral players in the pathophysiology of PCOS. PCOS may be an inheritable trait; however, no gene has yet been identified. Quality of life remains a concern for young women with PCOS. Lifestyle modifications geared to prevent long-term sequelae remain the first-line treatment in conjunction with oral contraceptive pills. Identifying PCOS in adolescents remains a diagnostic dilemma, but early intervention and treatment can improve long-term health.

[Ketoconazole and clindamycin efficacy vs oral clindamycin in premature membranes rupture prevention].

Science.gov (United States)

Castillo Huerta, Eugenio; Garibay Valencia, Miguel; Mirabent-González, Felio

2008-07-01

Vulvovaginitis is one of the main causes of premature membrane rupture. To evaluate effectiveness of a combination of ketoconazole (400 mg) and clindamycin (100 mg) in vaginal tablets, compared with clindamicyn alone (600 mg/daily) orally, for six days, to prevent premature membrane rupture in patients with vulvovaginitis. Longitudinal, prospective, comparative, randomized, double-blind, double-dummy study in patients older than 18 years, during them third trimester of normoevolutive pregnancy with symptomatic vulvovaginitis. Patients were monitored as out patient. Genital secretion culture and fresh studies were made. Signs and symptoms were evaluated in regular intervals: 4, 7 and 11 days. Pregnancy control was performed every three weeks, until childbirth or premature membrane rupture. 105 patients were included: 53 in the group of ketoconazole and clindamicyn (1), and 52 in the group of clindamycin alone (2). Symptoms were similar in both groups of treatment, without statistically significant differences. A case of group 2 has premature membrane rupture (p = 0.495). C. albicans was cultured in 35% of group 2 and in 11% of group 2. No adverse events with treatments were reported. The combination of ketoconazole and cindamycin was effective to prevent premature membrane rupture in patients with vulvovaginitis.

Retinopathy of prematurity: a review of risk factors and their clinical significance.

Science.gov (United States)

Kim, Sang Jin; Port, Alexander D; Swan, Ryan; Campbell, J Peter; Chan, R V Paul; Chiang, Michael F

2018-04-19

Retinopathy of prematurity (ROP) is a retinal vasoproliferative disease that affects premature infants. Despite improvements in neonatal care and management guidelines, ROP remains a leading cause of childhood blindness worldwide. Current screening guidelines are primarily based on two risk factors: birth weight and gestational age; however, many investigators have suggested other risk factors, including maternal factors, prenatal and perinatal factors, demographics, medical interventions, comorbidities of prematurity, nutrition, and genetic factors. We review the existing literature addressing various possible ROP risk factors. Although there have been contradictory reports, and the risk may vary between different populations, understanding ROP risk factors is essential to develop predictive models, to gain insights into pathophysiology of retinal vascular diseases and diseases of prematurity, and to determine future directions in management of and research in ROP. Copyright © 2018 Elsevier Inc. All rights reserved.

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.

Acromegaly accompanied by Turner syndrome with 47,XXX/45,X/46,XX mosaicism.

Science.gov (United States)

Yamazaki, Masanori; Sato, Ai; Nishio, Shin-ichi; Takeda, Teiji; Miyamoto, Takahide; Katai, Miyuki; Hashizume, Kiyoshi

2009-01-01

A 33-year-old woman was hospitalized for examination of edematous laryngopharynx. She was acromegalic. A pituitary adenoma with elevated serum levels of growth hormone (GH) and insulin-like growth factor-I (IGF-I) was detected, indicating acromegaly caused by GH-secreting pituitary adenoma. Multiple pigmented nevi were also noted without overt short stature and cubitus valgus. Chromosome analysis revealed that she had contracted Turner syndrome with 47,XXX/45,X/46,XX mosaicism. Transsphenoidal resection of the tumor decreased serum GH and IGF-I levels, but the edema was not improved. Both premature ovarian failure and hypertension appeared after surgery. This case may indicate the important relationships between GH/IGF-I and Turner syndrome.

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...

Complete heart block in a patient with POEMS syndrome: A case report

Directory of Open Access Journals (Sweden)

Farzaneh Ashrafi

2014-09-01

Full Text Available BACKGROUND: Polyneuropathy, organomegaly, endocrinopathy, monoclonal syndrome (POEMS is a rare paraneoplastic syndrome associated with plasma cell dyscrasia. CASE REPORT: A 48-year-old man presented with a 1-year history of paresthesia and progressive weakness of extremities. Diagnosis of POEMS syndrome was made for him on the basis of clinical presentation, additional physical findings, typical sclerotic bone lesion, and bone marrow findings. In last admission, he explained episodes of dyspnea and chest pain that associated with frequent premature ventricular contraction in his electrocardiograph. Patient heart monitoring showed some episodes of complete heart block. Infra-His atrioventricular block in electro-physiologic study was detected. He had no history of ischemic heart disease. His cardiopulmonary findings on examination were normal. All results of cardiac biomarkers and serum electrolytes and repeated echocardiography were within normal range. Cong red staining of rectal fat pad biopsy was negative. After pacemaker insertion radiation of sclerotic bone, lesion started for him, but radiotherapy was ineffective, and he expired with respiratory failure. Complete heart block in POEMS syndrome has not been reported previously, and it is the first POEMS case with complete heart block. CONCLUSION: Complete heart block is a cardiac manifestation of POEMS syndrome.   Keywords: Complete Heart Block, POEM Syndrome, Multiple Meloma 

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...

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.

Skin findings in Williams syndrome.

Science.gov (United States)

Kozel, Beth A; Bayliss, Susan J; Berk, David R; Waxler, Jessica L; Knutsen, Russell H; Danback, Joshua R; Pober, Barbara R

2014-09-01

Previous examination in a small number of individuals with Williams syndrome (also referred to as Williams-Beuren syndrome) has shown subtly softer skin and reduced deposition of elastin, an elastic matrix protein important in tissue recoil. No quantitative information about skin elasticity in individuals with Williams syndrome is available; nor has there been a complete report of dermatologic findings in this population. To fill this knowledge gap, 94 patients with Williams syndrome aged 7-50 years were recruited as part of the skin and vascular elasticity (WS-SAVE) study. They underwent either a clinical dermatologic assessment by trained dermatologists (2010 WSA family meeting) or measurement of biomechanical properties of the skin with the DermaLab™ suction cup (2012 WSA family meeting). Clinical assessment confirmed that soft skin is common in this population (83%), as is premature graying of the hair (80% of those 20 years or older), while wrinkles (92%), and abnormal scarring (33%) were detected in larger than expected proportions. Biomechanical studies detected statistically significant differences in dP (the pressure required to lift the skin), dT (the time required to raise the skin through a prescribed gradient), VE (viscoelasticity), and E (Young's modulus) relative to matched controls. The RT (retraction time) also trended longer but was not significant. The biomechanical differences noted in these patients did not correlate with the presence of vascular defects also attributable to elastin insufficiency (vascular stiffness, hypertension, and arterial stenosis) suggesting the presence of tissue specific modifiers that modulate the impact of elastin insufficiency in each tissue. © 2014 Wiley Periodicals, Inc.

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

An evidence-based unified definition of lifelong and acquired premature ejaculation : report of the second International Society for Sexual Medicine Ad Hoc Committee for the Definition of Premature Ejaculation

NARCIS (Netherlands)

Serefoglu, Ege Can; McMahon, Chris G; Waldinger, Marcel D|info:eu-repo/dai/nl/163958564; Althof, Stanley E; Shindel, Alan; Adaikan, Ganesh; Becher, Edgardo F; Dean, John; Giuliano, Francois; Hellstrom, Wayne J G; Giraldi, Annamaria; Glina, Sidney; Incrocci, Luca; Jannini, Emmanuele; McCabe, Marita; Parish, Sharon; Rowland, David; Segraves, R Taylor; Sharlip, Ira; Torres, Luiz Otavio

INTRODUCTION: The International Society for Sexual Medicine (ISSM) Ad Hoc Committee for the Definition of Premature Ejaculation developed the first evidence-based definition for lifelong premature ejaculation (PE) in 2007 and concluded that there were insufficient published objective data at that

An evidence-based unified definition of lifelong and acquired premature ejaculation : report of the second international society for sexual medicine ad hoc committee for the definition of premature ejaculation

NARCIS (Netherlands)

Serefoglu, Ege Can; McMahon, Chris G; Waldinger, Marcel D|info:eu-repo/dai/nl/163958564; Althof, Stanley E; Shindel, Alan; Adaikan, Ganesh; Becher, Edgardo F; Dean, John; Giuliano, Francois; Hellstrom, Wayne Jg; Giraldi, Annamaria; Glina, Sidney; Incrocci, Luca; Jannini, Emmanuele; McCabe, Marita; Parish, Sharon; Rowland, David; Segraves, R Taylor; Sharlip, Ira; Torres, Luiz Otavio

INTRODUCTION: The International Society for Sexual Medicine (ISSM) Ad Hoc Committee for the Definition of Premature Ejaculation developed the first evidence-based definition for lifelong premature ejaculation (PE) in 2007 and concluded that there were insufficient published objective data at that

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.

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)

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

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...

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.

Inflammatory and oxidative stress airway markers in premature newborns of hypertensive mothers

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R.J. Madoglio

2016-01-01

Full Text Available Although oxidative stress and inflammation are important mechanisms in the pathophysiology of preeclampsia and preterm diseases, their contribution to the respiratory prognosis of premature infants of hypertensive mothers is not known. Our objective was to determine the levels of oxidative stress and inflammation markers in the airways of premature infants born to hypertensive and normotensive mothers, in the first 72 h of life, and to investigate whether they are predictors of bronchopulmonary dysplasia (BPD/death. This was a prospective study with premature infants less than 34 weeks’ gestation on respiratory support who were stratified into 2 groups: 32 premature infants of hypertensive mothers and 41 of normotensive women, with a mean gestational age of 29 weeks. Exclusion criteria were as follows: diabetes mellitus, chorioamnionitis, malformation, congenital infection, and death within 24 h after birth. The outcome of interest was BPD/death. Malondialdehyde (MDA, nitric oxide (NO, and interleukin 8 (IL-8 were measured in airway aspirates from the first and third days of life and did not differ between the groups. Univariate and multivariate statistical analyses were performed. The concentrations of MDA, NO, and IL-8 were not predictors of BPD/death. Premature infants who developed BPD/death had higher levels of IL-8 in the first days of life. The gestational age, mechanical ventilation, and a small size for gestational age were risk factors for BPD/death. In conclusion, the biomarkers evaluated were not increased in premature infants of hypertensive mothers and were not predictors of BPD/death.

Sensory integration intervention and the development of the premature infant: A controlled trial

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E Lecuona

2017-11-01

Full Text Available Background. Premature infants are at risk of sensory processing difficulties and developmental delays due to an immature central nervous system and possible episodes of medical instability, discomfort, pain and stress during the first weeks or months after birth.Objective. To investigate the effect of Ayres Sensory Integration (ASI on the development of premature infants in the first 12 months of life.Methods. A pre-/post-test experimental design was used to randomly divide 24 premature infants from a low socioeconomic setting in Bloemfontein, South Africa, into experimental and control groups after being matched by corrected age and gender. Developmental status was determined with the Bayley III Scales of Infant and Toddler Development, the Test of Sensory Functions in Infants and the Infant/Toddler Sensory Profile. The experimental group received 10 weeks of ASI intervention.Results. ASI intervention had a positive effect on the sensory processing and development of premature infants, especially in terms of cognitive, language and motor development.Conclusions. ASI intervention at an early age enhances the developmental progress of premature infants. 

Treatment-related risk factors for premature menopause following Hodgkin lymphoma

DEFF Research Database (Denmark)

De Bruin, Marie L; Huisbrink, Jeannine; Hauptmann, Michael

2008-01-01

We conducted a cohort-study among 518 female 5-year Hodgkin lymphoma (HL) survivors, aged 14 to 40 years (median: 25 years) at treatment (1965-1995). Multivariable Cox regression was used to quantify treatment effects on risk of premature menopause, defined as cessation of menses before age 40...... years. After a median follow up of 9.4 years, 97 women had reached menopause before age 40 years. Chemotherapy was associated with a 12.3-fold increased risk of premature menopause compared with radiotherapy alone. Treatment with MOPP (mechlorethamine, vincristine, procarbazine, prednisone......)/ABV (doxorubicine, bleomycine, vinblastine) significantly increased the risk of premature menopause (hazard ratio [HR]: 2.9), although to a lesser extent than MOPP treatment (HR: 5.7). Alkylating agents, especially procarbazine (HR: 8.1) and cyclophosphamide (HR: 3.5), showed the strongest associations. Ten years...

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...

An empirical operationalization study of DSM-IV diagnostic criteria for premature ejaculation

NARCIS (Netherlands)

Waldinger, M. D.; Hengeveld, M. W.; Zwinderman, A. H.; Olivier, B.

1998-01-01

The DSM-IV diagnostic criteria for premature ejaculation remain to be investigated by a clinical study. A prospective study was therefore conducted to investigate the DSM-IV definition and to provide an empirical operationalization of premature ejaculation. In this study 140 men suffering from

[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.

MICROBIOLOGICAL STUDY ON ENDOCERVIX IN PRETERM PREMATURE RUPTURE OF MEMBRANE

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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...

The Turner syndrome in patient with 45X/47XXX mosaic karyotype--case report.

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Maciejewska-Jeske, Marzena; Czyzyk, Adam; Meczekalski, Blazej

2015-07-01

Turner syndrome (TS) is a gonadal dysgenesis related to partial or total lack of one of the X chromosomes. It this report we describe a young patient presenting some somatic features of TS, who underwent spontaneous puberty and was eumenoorheic up to the age of 23. Using fluorescent in situ hybridization (FISH) mosaic karyotype (45X[131]/47XXX[9]) of TS and triple X syndrome was found. She presented uncommon for TS somatic hemihypotrophy and underwent growth hormone and surgical therapy. The patient was diagnosed with premature ovarian failure when she was 23, with absent follicular reserve. Clinical features of this case and a few published cases will be reviewed briefly.

Papillon-Lefevre syndrome: A case report of 2 affected siblings

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Anupriya Sharma

2013-01-01

Full Text Available Papillon-Lefèvre syndrome (PLS is a very rare syndrome of autosomal recessive inheritance characterized by palmar-plantar hyperkeratosis and early onset periodontitis, leading to premature loss of both primary and permanent dentitions. Various etiopathogenic factors are associated with the syndrome, but a recent report has suggested that the condition is linked to x mutations of the cathepsin C gene. The purpose of this report is to describe two cases of PLS in the same family who presented to the Department of Dentistry of Dr. R. P. Government Medical College at Tanda, Kangra (Himachal Pradesh with a chief complaint of mobility and rapid loss of teeth. Hyperkeratosis of palms and soles was present. On intraoral examination, there was severe gingival inflammation, abscess formation, and deep periodontal pockets with mobility of teeth. Histopathological examination of the specimen taken from the thickened skin was reported to be consistent with PLS. The dental treatment comprised oral prophylaxis, scaling and root planning, antibiotic therapy, instructions on oral hygiene, restorations, extraction of hopelessly affected teeth, and prosthetic rehabilitation.

Radiological assessment of skull base changes in children with syndromic craniosynostosis: role of ''minor'' sutures

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Calandrelli, Rosalinda; D' Apolito, Gabriella; Gaudino, Simona; Stefanetti, Mariangela; Colosimo, Cesare [Universita Cattolica Sacro Cuore, Institute of Radiology, Rome (Italy); Massimi, Luca; Di Rocco, Concezio [Universita Cattolica Sacro Cuore, Institute of Neurosurgery, Rome (Italy)

2014-10-15

This study aims to identify the premature synostosis of ''major'' and ''minor'' sutures of the four ''sutural arches'' of the skull and to perform a morphometric analysis in children with syndromic craniosynostosis in order to evaluate changes in the skull base linked with premature suture synostosis. We reviewed multiplanar high-resolution CT images, implemented with 3D reconstructions, from 18 patients with complex syndromic craniosynostosis and compared them with 18 age-matched healthy subjects. We assessed the calvarial sutures and their extension to the skull base, and then we correlated specific types of synostosis with the size, shape and symmetry of the cranial fossae. We found a marked asymmetry of the skull base growth in all patients. The synostotic involvement around the coronal ring caused a reduction in the growth of the anterior and middle fossae. The size of the posterior cranial fossa was related not only to ''major'' but also to ''minor'' suture synostosis of the lambdoid and parieto-squamosal arches. Changes in the skull base and craniofacial axis symmetry are due to structural and functional relationships between ''major'' and ''minor'' skull sutures, suggesting a structural and functional relationship between the neurocranium and basicranium. The early recognition of prematurely closed skull base sutures may help clinicians and neurosurgeons to establish correct therapeutic approaches. (orig.)

Spontaneous Transition of Double Tachycardias with Atrial Fusion in a Patient with Wolff-Parkinson-White Syndrome.

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Kim, Dongmin; Lee, Myung-Yong

2016-07-01

Among patients with Wolff-Parkinson-White syndrome, atrioventricular reciprocating tachycardia (AVRT) and atrioventricular nodal reentrant tachycardia (AVNRT) can coexist in a single patient. Direct transition of both tachycardias is rare; however, it can occur after premature atrial or ventricular activity if the cycle lengths of the two tachycardias are similar. Furthermore, persistent atrial activation by an accessory pathway (AP) located outside of the AV node during ongoing AVNRT is also rare. This article describes a case of uncommon atrial activation by an AP during AVNRT and gradual transition of the two supraventricular tachycardias without any preceding atrial or ventricular activity in a patient with preexcitation syndrome.

Fryns anophthalmia-plus syndrome in an 18-week-old fetus.

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Jayasinghe, Caren; Gembruch, Ulrich; Kuchelmeister, Klaus; Körber, Friederike; Müller, Annette M

2012-01-01

Fryns anophthalmia-plus syndrome is a very rare condition initially described by Fryns and colleagues in 1995 in a pair of siblings of nonconsanguineous parents. Since that time, only a few cases have been reported, most of them in newborns and young children. Clinical presentation is variable and includes anophthalmia/microphthalmia, cleft lip/palate, and other facial deformities. Furthermore, skeletal, central nervous system, and endocrine anomalies have been described. We report the case of a male fetus of 18 weeks of gestation with normal karyotype and findings matching Fryns anophthalmia-plus syndrome. Pregnancy was terminated because of sonographically proven facial midline defects and a marked cerebral ventriculomegaly. Macroscopic and histological findings obtained at autopsy showed extreme bilateral microphthalmia, unilateral cleft palate, unilateral nasal deformity, and low-set ears. Skeletal anomalies included 13 pairs of ribs, premature ossification of the calcaneus, and talipes.

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.

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

Premature Growth Plate Closure in a Ballet Dancer en Pointe.

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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.

Excessive Premature Atrial Complexes and the Risk of Recurrent Stroke or Death in an Ischemic Stroke Population.

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Vinther, Kristina H; Tveskov, Claus; Möller, Sören; Auscher, Soren; Osmanagic, Armin; Egstrup, Kenneth

2017-06-01

Our aim was to investigate the association of premature atrial complexes and the risk of recurrent stroke or death in patients with ischemic stroke in sinus rhythm. In a prospective cohort study, we used 24-hour Holter recordings to evaluate premature atrial complexes in patients consecutively admitted with ischemic strokes. Excessive premature atrial complexes were defined as >14 premature atrial complexes per hour and 3 or more runs of premature atrial complexes per 24 hours. During follow-up, 48-hour Holter recordings were performed after 6 and 12 months. Among patients in sinus rhythm, the association of excessive premature atrial complexes and the primary end point of recurrent stroke or death were estimated in both crude and adjusted Cox proportional hazards models. We further evaluated excessive premature atrial complexes contra atrial fibrillation in relation to the primary end point. Of the 256 patients included, 89 had atrial fibrillation. Of the patients in sinus rhythm (n = 167), 31 had excessive premature atrial complexes. During a median follow-up of 32 months, 50 patients (30% of patients in sinus rhythm) had recurrent strokes (n = 20) or died (n = 30). In both crude and adjusted models, excessive premature atrial complexes were associated with the primary end point, but not with newly diagnosed atrial fibrillation. Compared with patients in atrial fibrillation, those with excessive premature atrial complexes had similarly high risks of the primary end point. In patients with ischemic stroke and sinus rhythm, excessive premature atrial complexes were associated with a higher risk of recurrent stroke or death. Copyright © 2017 National Stroke Association. Published by Elsevier Inc. All rights reserved.

Retinopathy of prematurity: the need for prevention

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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

INFORMATIVITY OF SPECTRAL OPTICAL COHERENT TOMOGRAPHY IN AGGRESSIVE POSTERIOR RETINOPATHY OF PREMATURITY

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A. V. Tereshchenko

2017-01-01

Full Text Available The purpose: to evaluate the informativity of optical coherence tomography in patients with aggressive posterior retinopathy of prematurity. Patients and methods. spectral optical coherence tomography using portable device iVue-100 with a removable camera (Optovue, USA was held in 32 children (64 eyes with aggressive posterior retinopathy of prematurity with a gestational period 26–31 week. Results. Children with aggressive posterior retinopathy of prematurity at the stage of early clinical manifestations, in addition to the indication that the immaturity of the retina, according to the spectral optical coherence tomography revealed only a few areas of epiretinal proliferation, which are not visualized with a digital retinoscopy and binocular indirect ophthalmoscopy. When the process is more pronounced in children with retinopathy of prematurity aggressive rear stage manifestation already determined multiple zones epiretinal proliferation as a "mushroom" and "flake" conglomerates with rear zone hyaloid membrane had an uneven seal. Coarser structural disorders of the retina and the vitreoretinal interface have been identified in patients with advancedstage aggressive posterior retinopathy of prematurity. We determined the shaft extraretinal proliferation as a "comb", as well as portions of epiretinal proliferation on the border of vascularized and avascular retina, which tended to merge, and the formation of massive hyperreflection complexes, lifted back hyaloid membrane, which was not only uneven sealed, but in some places is stratified. Conclusion. Despite the complexity of the procedure and the complexity of its implementation, the data obtained are particularly valuable and informative because they allow to complement the clinical picture and objectify it. It helps to choose the optimal tactics and improvement of a differentiated approach to the treatment of aggressive posterior retinopathy of prematurity.

The preterm cervix reveals a transcriptomic signature in the presence of premature prelabor rupture of membranes.

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Makieva, Sofia; Dubicke, Aurelija; Rinaldi, Sara F; Fransson, Emma; Ekman-Ordeberg, Gunvor; Norman, Jane E

2017-06-01

Premature prelabor rupture of fetal membranes accounts for 30% of all premature births and is associated with detrimental long-term infant outcomes. Premature cervical remodeling, facilitated by matrix metalloproteinases, may trigger rupture at the zone of the fetal membranes overlying the cervix. The similarities and differences underlying cervical remodeling in premature prelabor rupture of fetal membranes and spontaneous preterm labor with intact membranes are unexplored. We aimed to perform the first transcriptomic assessment of the preterm human cervix to identify differences between premature prelabor rupture of fetal membranes and preterm labor with intact membranes and to compare the enzymatic activities of matrix metalloproteinases-2 and -9 between premature prelabor rupture of fetal membranes and preterm labor with intact membranes. Cervical biopsies were collected following preterm labor with intact membranes (n = 6) and premature prelabor rupture of fetal membranes (n = 5). Biopsies were also collected from reference groups at term labor (n = 12) or term not labor (n = 5). The Illumina HT-12 version 4.0 BeadChips microarray was utilized, and a novel network graph approach determined the specificity of changes between premature prelabor rupture of fetal membranes and preterm labor with intact membranes. Quantitative reverse transcription-polymerase chain reaction and Western blotting confirmed the microarray findings. Immunofluorescence was used for localization studies and gelatin zymography to assess matrix metalloproteinase activity. PML-RARA-regulated adapter molecule 1, FYVE-RhoGEF and PH domain-containing protein 3 and carcinoembryonic antigen-ralated cell adhesion molecule 3 were significantly higher, whereas N-myc downstream regulated gene 2 was lower in the premature prelabor rupture of fetal membranes cervix when compared with the cervix in preterm labor with intact membranes, term labor, and term not labor. PRAM1 and CEACAM3 were localized

A C597-->A polymorphism in the Norrie disease gene is associated with advanced retinopathy of prematurity in premature Kuwaiti infants.

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Haider, M Z; Devarajan, L V; Al-Essa, M; Kumar, H

2002-01-01

Retinopathy of prematurity (ROP) is a retinal vascular disease which occurs in infants with a short gestational age and low birth weight and may lead to retinal detachment and blindness. In some premature infants, ROP progresses to advanced stages despite rigorous intervention, but in the majority, it spontaneously regresses before the threshold stage. Genetic factors, e.g. mutations in the Norrie disease (ND) gene, have been implicated in determining the progression of ROP to advanced stages. We have identified a novel C597A polymorphism of the ND gene; we screened this and another mutation in the ND gene, C110G, in 210 premature Kuwaiti infants using PCR-RFLP, DNA sequence analysis and DNA enzyme immunoassay hybridization to investigate their association with advanced-stage ROP. In this cohort of premature Kuwaiti newborns, 115 of 210 babies had no eye problems and served as controls, while 95 were found to have ROP. In 71 of the 95 ROP cases, the disease spontaneously regressed at or before stage 3, while in 24 of 95 ROP cases, the disease progressed to advanced stages 4 or 5. The incidence of the AA genotype of the C597A polymorphism was considerably higher in advanced-stage ROP cases (83.3%) compared to spontaneously regressing ROP cases (0%) and the normal controls (10.4%) (p < 0.0001). For the other genotypes, no significant difference was detected between the controls and ROP cases. In the case of the C110G mutation in the ND gene, no significant differences were detected between the controls and ROP cases, and the majority of subjects had a CC genotype in all three groups. Copyright 2002 National Science Council, ROC and S. Karger AG, Basel

Waardenburg Syndrome: A Case Study of Two Patients.

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Sharma, Karan; Arora, Archana

2015-09-01

Waardenburg syndrome is an autosomal dominant disorder with an incidence of 1 in 40,000 that manifests with sensorineural deafness, pigmentation defects of the skin, hair and iris and various defects of neural crest-derived tissues. This genetically heterogeneous disease accounts for >2 % of the congenitally deaf population. Mutations in the EDN3, EDNRB, MITF, PAX3, SNAI2, and SOX10 genes can cause Waardenburg syndrome. We here report a case of 12 year old female who presented with chief complaint of decreased hearing in both ears and had clinical features consistent with Waardenburg syndrome. She had a distinct white forelock of hair in the midline along with striking bilateral blue iris. Also a white depigmented patch was present on the right forearm. Both eyes had bright red fundal reflex with choroidal depigmentation. Her younger brother, the second case in this study, had similar blue eyes, white forelock of hair, depigmented skin patch and choroidal depigmentation but with normal hearing. Their father had a history of premature graying of hair. All the primary care physicians coming across a child with blue eyes and white forelock of hair should get the child's hearing tested at the first instance, if not already tested. An early diagnosis and improvement of hearing impairment with timely intervention are the most important for psychological and intellectual development of children with Waardenburg syndrome.

Outcome of Isolated Premature Menarche: A Retrospective and Follow-Up Study.

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Ejaz, Sehar; Lane, Andrew; Wilson, Thomas

2015-01-01

Isolated premature menarche is isolated or recurrent vaginal bleeding in a female in the absence of appropriate secondary sexual characters. Retrospective chart review of patients with premature menarche, followed by a telephone questionnaire. Charts of patients evaluated in the Pediatric Endocrine Clinic for premature vaginal bleeding from 1982-2013 were reviewed. Of 21 patients identified, 17 could be contacted. Five newly diagnosed patients were recruited during the course of the study. The median age at initial presentation was 7 years. Most patients presented with Tanner I sexual development. Some had more advanced breast staging, which regressed later. All had prepubertal baseline and stimulated gonadotropins. Most of the patients reported a single or few episodes of menses. Two reported continuation of irregular bleeding into adulthood. All reported an adult height within the midparental target height. Premature menarche in the absence of other appropriate secondary sexual characteristics is a benign entity. Most patients have a few isolated episodes of menses that stop spontaneously; some may continue to have periods into adulthood. Unlike true puberty, these patients do not demonstrate advanced skeletal maturation, and the adult height is normal. Fertility appears to be normal. © 2015 S. Karger AG, Basel.

The Impact of Premature Childbirth on Parental Bonding

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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.

Cardiovascular consequences of extreme prematurity: the EPICure study.

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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.

Papillon-Lefévre Syndrome: Report of Two Cases in a Family

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C Vani

2010-01-01

Full Text Available This report presents two cases of Papillon-Lefévre syndrome (PLS affecting two girls among five siblings belonging to a south Indian Muslim family. The patients were 12 and 14 years old. The patients presented with palmar-plantar hyperkeratosis which started around the age of two years. The elder patient was edentulous due to severe destructive periodontitis causing premature loss of teeth. The younger patient had severe destructive periodontitis with multiple periodontal abscess and loose teeth.

Validation of the Colorado Retinopathy of Prematurity Screening Model.

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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.

Pacifier and swaddling effective in impeding premature infant's pain score and heart rate.

Science.gov (United States)

Efendi, Defi; Rustina, Yeni; Gayatri, Dewi

2018-02-01

To assess the effectiveness of pacifier and swaddling on premature infant's pain score, hearthrate, and oxygen saturation during an invasive procedure. This randomized control trial involv 30 premature infants who were randomly assigned into control (n=15) and intervention (n=15) groups using parallel design. Infants in the intervention group received pacifier and swaddling when they were undergoing invasive procedures. The outcome indicators of the two-day intervention were pain score, hearth rate, and oxygen saturation. The Premature Infant Pain Profile (PIPP) was used in this study to measure infants' pain. The paired t-test results showed that the pain score and heart rate were significantly increased following the procedure in the control group (p=0.003; p=0.013 0.005). There was no significant different in oxygen saturation in the control group (p=0.270) and in the intervention (p=0.370) group before and after the procedure. Providing pacifier and swaddling can impede the increase of premature infants' pain score and hearth rate during an invasive procedures, therefore it can be implemented as an alternative to pain management in premature infants. Copyright © 2018 Elsevier España, S.L.U. All rights reserved.

[Optimum approach to delivery for control of premature birth (author's transl)].

Science.gov (United States)

Nieder, J; Lattorff, E

1980-01-01

Foetal condition and neonatal mortality of 637 prematurely born children with birth weights below 2,501 g were analysed, depending on modes of delivery, such as spontaneous birth, speculum delivery, use of forceps, manual support, and caesarean section. The clinical condition of the newborn, assessed five minutes from parturition by Apgar score 1, was found to depend primarily on birth weight rather than on the mode of delivery. The average Apgar values were lower for less mature newborns. While Apgar scores were worst for newborns after caesarean section delivery, the differences between approaches to delivery could not be statistically secured. Neonatal mortality went up, according to expectation, along with dropping birth weight. The mortality rate of premature births below 1,501 g was not affected by delivery modes. Prophylactic use of Shute forceps and speculum delivery appeared to be superior to spontaneous birth in the medium weight class, between 1,501 g and 2,000 g. Yet, not even here were the differences between clear postnatal mortality rates statistically secured. -Lowest mortality figures were recorded from spontaneous birth in the weight class between 2,001 g and 2,500 g, but significant differences were established only to speculum delivery. Premature newborns after caesarean section had poorer prospects than all variants of vaginal birth, but among the latter premature births from breech presentation were more endangered than others. Decisions as to vaginal, abdominal, spontaneous proprophylactically surgical approaches to premature deliveries should be taken for every individual case and due consideration of many factors.

Mothers' Strategies in Handling the Prematurely Born Infant: a Qualitative Study

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Afsaneh Arzani

2015-03-01

Full Text Available Introduction: Family, especially mother, is faced with numerous challenges by experiencing a premature birth. Since knowing about mother‟s efforts regarding prematurely born infant helps us in our comprehensive understanding of the impact of this incident on the family system and its performance. The present study was carried out to explore the mothers' strategies regarding prematurely born infant. Methods: In a conventional qualitative content analysis, data was collected through purposive sampling by semi-structured deep interviews with 18 mothers who had prematurely born infant during 2012-2013 in the teaching hospitals of the north and northwest of Iran. All the interviews were recorded, typed, and finally analyzed. Results: Data analysis resulted in the extraction of categories of "asking for help, elevating capacity and reducing personal responsibilities and commitments". These categories were revealed in mothers respectively by the different sub-categories of "religious appeal and relying on beliefs, seeking information from the treatment and caring team, participating in infant‟s care, companionship and support of family and friends”, “focusing on positive thinking and imagination, patience and strength " and "ignoring some routine affairs and reducing role-related activities and duties". Conclusion: Considering the uniqueness of the mother's role in responding to the needs of infants, healthcare system should consider mothers as real target in the intervention strategies in order to promote health and quality of life, so maybe this way, the burden of care and management of critical situations caused by a premature birth on the mother can be reduced.

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.

Nutritional support management in premature infant in a Mexican (Guanajuato) hospital.

OpenAIRE

Monroy-Torres, R.; Mendoza Hernández, A. N.; Ruiz González, S. R.

2012-01-01

Introduction: Premature infant has special nutritional and physiological recommendations. Nutritional support promotes an appropriate weight gain. While this support is monitored according to international guidelines, the metabolic and infectious complicationscan be reduced and prevented.Objective: To describe the management of nutritional support in premature infant in a Mexican (Guana juato) hospital.Methods: A descriptive cross-sectional study, where a survey of 22 questions was applied by...

Mental Health Outcomes in US Children and Adolescents Born Prematurely or with Low Birthweight

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Gopal K. Singh

2013-01-01

Full Text Available We examined the effects of prematurity (37 weeks of gestation and low birthweight (2500 g on mental health outcomes among US children aged 2–17 years. The 2011-2012 National Survey of Children’s Health ( = 95,677 was used to estimate prevalence of parent-reported mental health problems in children. Prevalence of mental disorders was 22.9% among children born prematurely, 28.7% among very-low-birth-weight (1500 g children, and 18.9% among moderately low-birth-weight (1500–2499 g children, compared with 15.5% in the general child population. Compared to those born full term, children born prematurely had 61% higher adjusted odds of serious emotional/behavioral problems, 33% higher odds of depression, and 58% higher odds of anxiety. Children born prematurely had 2.3 times higher odds of autism/ASD, 2.9 times higher odds of development delay, and 2.7 times higher odds of intellectual disability than term children. Very-low-birth-weight children had 3.2 times higher odds of autism/ASD, 1.7 times higher odds of ADD/ADHD, 5.4 times higher odds of development delay, and 4.4 times higher odds of intellectual disability than normal-birth-weight children. Social factors were significant predictors of mental disorders in both premature/low-birth-weight and term/normal-birth-weight children. Neurodevelopmental conditions accounted for the relationship between prematurity and depression/anxiety/conduct problems. Prematurity and low birthweight are significant risk factors for mental health problems among children.

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.

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 ...

Concurrent insulinoma with mosaic Turner syndrome: A case report.

Science.gov (United States)

Wang, Shaoyun; Yang, Lijuan; Li, Jie; Mu, Yiming

2015-03-01

Turner syndrome is a chromosomal abnormality in which the majority of patients have a 45XO karyotype, while a small number have a 45XO/47XXX karyotype. Congenital adrenal hyperplasia has been previously reported in patients with Turner syndrome. Although insulinomas are the most common type of functioning pancreatic neuroendocrine tumor and have been reported in patients with multiple endocrine neoplasias, the tumors have not been reported in patients with mosaic Turner syndrome. The present study reports the first case of an insulinoma in a patient with 45XO/47XXX mosaic Turner syndrome. The patient suffered from recurrent hypoglycemia, which was relieved following ingestion of glucose or food. A 5-h glucose tolerance test was performed and the levels of glucose, C-Peptide and insulin were detected. In addition, computed tomography (CT) and ultrasound scanning were performed to evaluate the possibility of an insulinoma. Pathological examination and karyotyping were performed on a surgical specimen and a whole blood sample, respectively. The patient was found to suffer from premature ovarian failure, and a physical examination was consistent with a diagnosis of Turner syndrome. An ultrasound scan demonstrated streak ovaries and the patient was found to have a 45XO/47XXX karyotype. Furthermore, a lesion was detected in the pancreas following CT scanning, which was identified as an insulinoma following surgical removal and histological examination. In conclusion, the present study reports the first case of an insulinoma in a patient with mosaic Turner syndrome. Since mosaic Turner syndrome and insulinoma are rare diseases, an association may exist that has not been previously identified.

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

Early postnatal hyperglycaemia is a risk factor for treatment-demanding retinopathy of prematurity

DEFF Research Database (Denmark)

Slidsborg, Carina; Jensen, Louise Bering; Rasmussen, Steen Christian

2017-01-01

Background To investigate whether neonatal hyperglycaemia in the first postnatal week is associated with treatment-demanding retinopathy of prematurity (ROP). Methods This is a Danish national, retrospective, case-control study of premature infants (birth period 2003-2006). Three national registers...

Forensic study into the causes of premature failures in asphalt pavements in Tanzania

CSIR Research Space (South Africa)

Anochie-Boateng, Joseph

2015-11-01

Full Text Available Tanzania is faced with challenges of premature failures in roads and highways. Some asphalt pavements fail prematurely in less than five years of their expected 20 years design life cycle. These failures have been identified as mostly permanent...

STAGE 5 RETINOPATHY OF PREMATURITY IN ONE EYE – CASE REPORT

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Gordana Stanković-Babić

2012-03-01

Full Text Available Retinopathy of prematurity (ROP is a leading cause of blindness in children and one of the most important reasons of blindness in the perinatal period. The aim of the paper was to present a nine-month-old baby boy with esotropia, microphtalmos and completely detached retina in one eye, as the end stage of the disease, who had not been checked for ROP. The boy was born in the 32nd gestational week, with 1670 g birth weight. Indirect ophthalmoscope examination and ultrasonography of the left eye showed stage 5 retinopathy of prematurity. On the right eye, the finding was valid. Retinopathy of prematurity today needs recognition, understanding and awareness among ophthalmologists, pediatricians, neonatologists. Early diagnosis of damage is important in the treatment of ROP.

Human Metapneumovirus Infection is Associated with Severe Respiratory Disease in Preschool Children with History of Prematurity.

Science.gov (United States)

Pancham, Krishna; Sami, Iman; Perez, Geovanny F; Huseni, Shehlanoor; Kurdi, Bassem; Rose, Mary C; Rodriguez-Martinez, Carlos E; Nino, Gustavo

2016-02-01

Human metapneumovirus (HMPV) is a recently discovered respiratory pathogen of the family Paramyxoviridae, the same family as that of respiratory syncytial virus (RSV). Premature children are at high risk of severe RSV infections, however, it is unclear whether HMPV infection is more severe in hospitalized children with a history of severe prematurity. We conducted a retrospective analysis of the clinical respiratory presentation of all polymerase chain reaction-confirmed HMPV infections in preschool-age children (≤5 years) with and without history of severe prematurity (prematurity. Preschool children with a history of prematurity had more severe HMPV disease as illustrated by longer hospitalizations, new or increased need for supplemental O2, and higher severity scores independently of age, ethnicity, and history of asthma. Our study suggests that HMPV infection causes significant disease burden among preschool children with a history of prematurity leading to severe respiratory infections and increasing health care resource utilization due to prolonged hospitalizations. Copyright © 2016. Published by Elsevier B.V.

Dose evaluation for digital X-ray imaging of premature neonates

International Nuclear Information System (INIS)

Minkels, T.J.M.; Jeukens, C.R.L.P.N.; Andriessen, P.; Van der Linden, A.N.; Dam, A.J.; Van Straaten, H.L.M.; Cottaar, E.J.E.; Van Pul, C.

2017-01-01

X-ray radiography is a commonly used diagnostic method for premature neonates. However, because of higher radiosensitivity and young age, premature neonates are more sensitive to the detrimental effects of ionising radiation. Therefore, it is important to monitor and optimise radiation doses at the neonatal intensive care unit (NICU). The number of X-ray examinations, dose area product (DAP) and effective doses are evaluated for three Dutch NICUs using digital flat panel detectors. Thorax, thorax abdomen and abdomen protocols are included in this study. Median number of examinations is equal to 1 for all three hospitals. Median DAP ranges between 0.05 and 1.02 μGy m2 for different examination types and different weight categories. These examinations result in mean effective doses between 4 ± 4 and 30 ± 10 μSv per examination. Substantial differences in protocols and doses can be observed between hospitals. This emphasises the need for up-to-date reference levels formulated specifically for premature neonates. (authors)

Fertility preservation in Turner syndrome.

Science.gov (United States)

Grynberg, Michaël; Bidet, Maud; Benard, Julie; Poulain, Marine; Sonigo, Charlotte; Cédrin-Durnerin, Isabelle; Polak, Michel

2016-01-01

Premature ovarian insufficiency is a relatively rare condition that can appear early in life. In a non-negligible number of cases the ovarian dysfunction results from genetic diseases. Turner syndrome (TS), the most common sex chromosome abnormality in females, is associated with an inevitable premature exhaustion of the follicular stockpile. The possible or probable infertility is a major concern for TS patients and their parents, and physicians are often asked about possible options to preserve fertility. Unfortunately, there are no recommendations on fertility preservation in this group. The severely reduced follicle pool even during prepubertal life represents the major limit for fertility preservation and is the root of numerous questions regarding the competence of gametes or ovarian tissue crybanked. In addition, patients suffering from TS show higher than usual rates of spontaneous abortion, fetal anomaly, and maternal morbidity and mortality, which should be considered at the time of fertility preservation and before reutilization of the cryopreserved gametes. Apart from fulfillment of the desire of becoming genetic parents, TS patients may be potential candidates for egg donation, gestational surrogacy, and adoption. The present review discusses the different options for preserving female fertility in TS and the ethical questions raised by these approaches. Copyright © 2016 American Society for Reproductive Medicine. Published by Elsevier Inc. All rights reserved.

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

Science.gov (United States)

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

2005-07-01

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. To provide a definition for lifelong premature ejaculation that is based on epidemiological evidence including the neurobiological and psychological approach. We used the 0.5 and 2.5 percentiles as accepted standards of disease definition in a skewed distribution. We applied these percentiles in a stopwatch-determined intravaginal ejaculation latency time (IELT) distribution of 491 nonselected men from five different countries. The practical consequences of 0.5% and 2.5% cutoff points for disease definition were taken into consideration by reviewing current knowledge of feelings of control and satisfaction in relation to ejaculatory performance of the general male population. Literature arguments to be used in a proposed consensus on a definition of premature ejaculation. The stopwatch-determined IELT distribution is positively skewed. The 0.5 percentile equates to an IELT of 0.9 minute and the 2.5 percentile an IELT of 1.3 minutes. However, there are no available data in the literature on feelings of control or satisfaction in relation to ejaculatory latency time in the general male population. Random male cohort studies are needed to end all speculation on this subject. Exact stopwatch time assessment of IELT in a multinational study led us to propose that all men with an IELT of less than 1 minute (belonging to the 0.5 percentile) have "definite" premature ejaculation, while men with IELTs between 1 and 1.5 minutes (between 0.5 and 2.5 percentile) have "probable" premature ejaculation. Severity of premature ejaculation (nonsymptomatic, mild, moderate, severe) should be defined in terms of associated psychological problems. We define lifelong premature ejaculation as a neurobiological dysfunction with an unacceptable increase of risk to

Carotid body size measured by computed tomographic angiography in individuals born prematurely.

Science.gov (United States)

Bates, Melissa L; Welch, Brian T; Randall, Jess T; Petersen-Jones, Humphrey G; Limberg, Jacqueline K

2018-05-24

We tested the hypothesis that the carotid bodies would be smaller in individuals born prematurely or exposed to perinatal oxygen therapy when compared individuals born full term that did not receive oxygen therapy. A retrospective chart review was conducted on patients who underwent head/neck computed tomography angiography (CTA) at the Mayo Clinic between 10 and 40 years of age (n = 2503). Patients were identified as premature ( body images captured during the CTA were performed. Carotid body visualization was possible in 43% of patients and 52% of age, sex, and body mass index (BMI)-matched controls but only 17% of juvenile preterm subjects (p = 0.07). Of the carotid bodies that could be visualized, widest axial measurements of the carotid bodies in individuals born prematurely (n = 7, 34 ± 4 weeks gestation, birth weight: 2460 ± 454 g; average size: 2.5 ± 0.2 cm) or individuals exposed to perinatal oxygen therapy (n = 3, 38 ± 2 weeks gestation, Average size: 2.2 ± 0.1 cm) were not different when compared to controls (2.3 ± 0.2 cm and 2.3 ± 0.2 cm, respectively, p > 0.05). Carotid body size, as measured using CTA, is not smaller in adults born prematurely or exposed to perinatal oxygen therapy when compared to sex, age, and BMI-matched controls. However, carotid body visualization was lower in juvenile premature patients. The decreased ability to visualize the carotid bodies in these individuals may be a result of their prematurity. Copyright © 2018. Published by Elsevier B.V.

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

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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.

A population study of the contribution of medical comorbidity to the risk of prematurity in blacks.

Science.gov (United States)

Ehrenthal, Deborah B; Jurkovitz, Claudine; Hoffman, Matthew; Kroelinger, Charlan; Weintraub, William

2007-10-01

The purpose of this study was to test the hypothesis that the higher prevalence of medical comorbidities among black women accounts for their increased risk of prematurity. A population-based regional cohort of women receiving obstetric care for singleton pregnancies at a large community hospital between 2003 and 2006 were analyzed using univariate and multivariable logistic regression. Data for 18,624 consecutive births found increased odds of adverse outcomes for black compared to white women: prematurity OR = 1.6 (1.4-1.8), extreme prematurity OR = 2.5 (2.0-3.2). Logistic regression modeling identified black race, age prematurity among blacks. Though there is a greater burden of health risk among black women, this did not account for the higher rates of low birthweight and prematurity.

[School performance of former premature infants in the first four years of school].

Science.gov (United States)

Frenzel, J; Paalhorn, U

1992-12-01

School achievement during the first four grades was analysed by means of subject marks in 203 prematurely born and in 140 maturely born children. In subjects referring to behaviour in the classroom, no statistically significant differences in average marks could be found between prematurely born children and the control group. The average marks in performance subjects were slightly higher in the subgroup of very prematurely born children. However, statistically significant lower marks were observed in the subject of sports only, and for formerly immature children also in the subject of manual training. The higher the educational level of the mothers, the better the average marks without sports. No relationships between school performance and manifestation of postnatal risk factor like Apgar score, blood gas values and duration of oxygen dependency could be seen. These results demonstrate that school performance of former premature infants lies within the normal variance of their grade.

A morphometric CT study of Down's syndrome showing small posterior fossa and calcification of basal ganglia

International Nuclear Information System (INIS)

Ieshima, A.; Yoshino, K.; Takashima, S.; Takeshita, K.; Kisa, T.

1984-01-01

We report characteristic and morphometric changes of cranial computed tomography (CT) with increasing age in 56 patients with Down's syndrome aged from 0 month to 37 years. Patients were compared with 142 normal controls aged 0 to 59 years. Width of ventricles, Sylvian fissures, posterior fossa, pons and cisterna magna were measured on CT. The incidences of the cavum septi pellucidi, cavum vergae and cavum veli interpositi and high density in the basal ganglia were examined. There was high incidence (10.7%) of bilateral calcification of basal ganglia in Down's syndrome, although that of pineal body and choroid plexus calcification was similar in Down's syndrome and controls. Basal ganglia calcification is more frequently seen in young Down's syndrome and may be related to the premature aging characteristic of Down's syndrome. The CT in Down's syndrome showed relatively small posterior fossa, small cerebellum, small brain stem and relatively large Sylvian fissures in those under one year of age. There was a high frequency of midline cava and large cisterna magna. There were no significant atrophic changes on CT except after the fifth decade comparing with controls. (orig.)

[Correlation between the lower first permanent molar axis and the premature loss of temporary molars].

Science.gov (United States)

Petcu, Ana; Maxim, A; Haba, Danisia

2009-01-01

The aim of our study was to determine the impact of premature loss of temporary molars upon the longitudinal axis of the first permanent molar. The study sample was formed by 94 orthopanthomografies of child patients with premature loss of lower temporary molars (first or second) after clinical eruption of the first permanent molar. All panoramic radiographs have been realized with the same panoramic unit with 1.4% magnification coefficient and were analyzed using a standardized technique of tracing the images of teeth and bone on matte acetate paper. It was evaluated the angle between longitudinal axis of first permanent lower molar and occlusal plane. It was observed that premature loss of lower second deciduous molar modifies greater the vertical axis of first permanent molar (between 61 degrees and 79 degrees) then premature loss of first lower primary molar. This is perhaps because the loss of space in the case of premature exfoliation of first primary molar is due more to distal drift of canine then mesial drift of molars. The drift to mesial of first permanent molar is more accentuated proportional with the age at which appeared premature loss and so it is loss of leeway space.

Faktor-Faktor yang Mempengaruhi Perilaku Auditor dalam Penghentian Prematur atas Prosedur Audit

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Astia Putriana

2016-03-01

Full Text Available The purpose of this research is to examine the effect of time pressure, audit risk, materiality, review procedure and quality control, need for achievement, and professional commitments on the auditor in premature termination on audit procedures. This reseach applies a mail survey as data collection method and convienece sampling as sample collection method. Research subjects are 106 auditor at the Supreme Audit Board of the Republic of Indonesia (BPK RI Representative of South Kalimantan and Central Kalimantan. Empirical evidence finds that audit risk effect toward premature termination on the audit procedures. However, time pressure, materiality, review procedure and quality control, need for achievement and professional commitment does not effect toward premature termination on the audit procedures.

Double trisomy (48,XXX,+18) with features of Roberts syndrome

Energy Technology Data Exchange (ETDEWEB)

Descartes, M.; Longshore, J.W.; Crawford, E. [Univ. of Alabama, Birmingham, AL (United States)] [and others

1994-09-01

We report an infant with double trisomy 48,XXX,+18, who also displayed features of Roberts syndrome. All previously published cases with similar double trisomy have presented with features of trisomy 18 syndrome. The chromosome analysis done at birth revealed the double trisomy; parental chromosomes were normal. The proband presented with microbrachycephaly, unilateral cleft lip and palate, choanal atresia, midfacial capillary hemanioma, thin nares, shallow orbits, malformed ears, sparse hair, hypomelia of the upper limbs, rocker-bottom feet, auricular septal defect and agenesis of the corpus callosum. Characteristic features of Roberts syndrome included hypomelia, midfacial defects, and severe growth deficiency. Among the many different features reported in the literature for patients with trisomy 18 syndrome, the most consistent were growth deficiency, clenched fingers and congenital heart defects (e.g. VSD, ASD, PDA). Although some of our patient`s features such as cleft lip and cleft palate, low-set malformed ears, ASD, defects of the corpus callosum, choanal atresia, radial aplasia could also be seen in trisomy 18 syndrome (in 10-50% of the cases), her phenotype was more typical of Roberts syndrome because of symmetrical hypomelia and midfacial defects. Our patient`s chromosomes did not show premature separation of centromeric heterochromatin, a feature reported to occur in approximately one-half of individuals with Roberts syndrome. Sporadic aneuploidy involving different chromosomes has been found in lymphocyte cultures from some Roberts syndrome patients and is considered by some authors as a mitotic mutant. This aneuploidy is most likely to be chromosome gain. The simultaneous occurrence of trisomy X and 18 is extremely rare with only 11 cases having been reported in the literature. Our patient is unique since she has the double trisomy in addition to the characteristic features of Roberts syndrome.

PSYCHOMOTOR DEVELOPMENT IN PREMATURE INFANTS UNTIL THE END OF THEIR THIRD YEAR OF LIFE

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Valentina DUKOVSKA

2009-06-01

Full Text Available Psychomotor development in premature infants has specific characteristics with increased tendency towards neuro-developmental difficulties, such as the fact that certain percent of the developmentally challenged people belongs in this category of children.Many factors contribute to the neuro-developmental difficulties in premature infants. A large number of studies have shown that the birth weight (BW and gestational age (GA have strong correlation with the neuro-developmental outcome.In order to establish the general developmental outcome and the developmental outcome in specific areas of early development, that is the first three years of life in preemies, we have conducted a research on our own population. We conducted a longitudinal study on 20 premature newborns with very low birth weight (VLBW, with a follow-up period from 4 weeks CGA until 36 weeks GA.The research results showed that the largest difference in developmental areas between the group of premature infants with VLBW and the control group is present at the end of the 36th month of life and the general development quotient (GDQ in the premature group was significantly lower during the whole follow-up period, except at the end of month 4 - in different developmental areas. We also concluded that 20% of the premature infants with VLBW have developmental difficulties and severe difficulties in their motor development.