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Sample records for bronchopulmonary dysplasia

  1. Displasia broncopulmonar Bronchopulmonary dysplasia

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    Luciana F. Velloso Monte

    2005-04-01

    Full Text Available OBJETIVO: Apresentar uma ampla revisão da literatura sobre displasia broncopulmonar, abordando novas definições, fisiopatologia, prevenção, tratamento, prognóstico e evolução. FONTE DOS DADOS: Foram selecionados os artigos mais relevantes sobre o tema, desde a sua descrição inicial, em 1967, pesquisados na MEDLINE. SÍNTESE DOS DADOS: A displasia broncopulmonar é considerada uma das principais causas de doença pulmonar crônica em lactentes. Está associada a hospitalizações freqüentes e prolongadas, especialmente por doenças pulmonares, altos índices de mortalidade e alterações no desenvolvimento neuropsicomotor e no crescimento pôndero-estatural. A patogênese é complexa e influenciada principalmente por prematuridade, infecção, oxigênio suplementar e ventilação mecânica. A prevenção envolve o acompanhamento pré-natal adequado, a prevenção do parto prematuro, o uso pré-natal do corticosteróide, a terapia de reposição de surfactante e o uso de estratégias ventilatórias "protetoras". O tratamento do paciente com displasia broncopulmonar demanda uma equipe multidisciplinar. Quando indicada, a suplementação de oxigênio é de extrema importância. Apesar de maior risco de morbimortalidade nos primeiros anos de vida, a evolução em longo prazo é favorável na maioria das vezes. CONCLUSÕES: A displasia broncopulmonar vem sendo profundamente estudada na tentativa de identificação das suas causas e possibilidades de prevenção e de tratamento. Ainda existem controvérsias quanto a esses assuntos e também em relação ao prognóstico desses pacientes, especialmente quando se trata da evolução tardia da "nova" displasia broncopulmonar.OBJECTIVE: To present a wide-ranging review of the literature on bronchopulmonary dysplasia, covering new definitions, pathophysiology, prevention, treatment, prognosis and progression. SOURCES OF DATA: The most relevant articles published on the subject since it was first

  2. Oxygen Saturation Targeting and Bronchopulmonary Dysplasia.

    Science.gov (United States)

    Darlow, Brian A; Morley, Colin J

    2015-12-01

    Oxygen saturation targeting is widely used in neonatal intensive care, but the optimal target range in very preterm infants has been uncertain and is the subject of recent debate and research. This review briefly discusses the technology of oxygen monitoring and the role of oxygen toxicity in preterm infants. The background to the recent trials of oxygen saturation targeting in acute and continuing care of very preterm infants is reviewed, and the findings and implications of the recent trials, particularly with respect to bronchopulmonary dysplasia, are discussed. PMID:26593080

  3. Initial respiratory management in preterm infants and bronchopulmonary dysplasia

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    Ester Sanz López

    2011-01-01

    Full Text Available BACKGROUND: Ventilator injury has been implicated in the pathogenesis of bronchopulmonary dysplasia. Avoiding invasive ventilation could reduce lung injury, and early respiratory management may affect pulmonary outcomes. OBJECTIVE: To analyze the effect of initial respiratory support on survival without bronchopulmonary dysplasia at a gestational age of 36 weeks. DESIGN/METHODS: A prospective 3-year observational study. Preterm infants of 26 weeks (sensitivity =89.5% and specificity = 67%. The need for prolonged mechanical ventilation could be an early marker for the development of bronchopulmonary dysplasia. This finding could help identify a target population with a high risk of chronic lung disease. Future research is needed to determine other strategies to prevent bronchopulmonary dysplasia in this high-risk group of patients.

  4. Pathogenesis of bronchopulmonary dysplasia: when inflammation meets organ development.

    Science.gov (United States)

    Shahzad, Tayyab; Radajewski, Sarah; Chao, Cho-Ming; Bellusci, Saverio; Ehrhardt, Harald

    2016-12-01

    Bronchopulmonary dysplasia is a chronic lung disease of preterm infants. It is caused by the disturbance of physiologic lung development mainly in the saccular stage with lifelong restrictions of pulmonary function and an increased risk of abnormal somatic and psychomotor development. The contributors to this disease's entity are multifactorial with pre- and postnatal origin. Central to the pathogenesis of bronchopulmonary is the induction of a massive pulmonary inflammatory response due to mechanical ventilation and oxygen toxicity. The extent of the pro-inflammatory reaction and the disturbance of further alveolar growth and vasculogenesis vary largely and can be modified by prenatal infections, antenatal steroids, and surfactant application.This minireview summarizes the important recent research findings on the pulmonary inflammatory reaction obtained in patient cohorts and in experimental models. Unfortunately, recent changes in clinical practice based on these findings had only limited impact on the incidence of bronchopulmonary dysplasia. PMID:27357257

  5. Bronchopulmonary Dysplasia from newborn disease to long-term sequelae

    OpenAIRE

    Broström, Eva Berggren

    2010-01-01

    Bronchopulmonary Dysplasia (BPD) is a complication of premature birth that is associated with increased mortality and morbidity in infancy and impaired lung function and obstructive lung disease from childhood to adulthood. The pathogenesis of BPD is multifactorial, and may involve one or more of the following: a deficiency in surfactant production in the immature lung, chronic inflammatory processes before and after birth, oxidative stress, and trauma due to mechanical vent...

  6. Reviewing the use of corticosteroids in bronchopulmonary dysplasia

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    Fernanda Aparecida de Oliveira Peixoto

    2016-04-01

    Full Text Available Abstract Objective: Review the risks and benefits of postnatal corticosteroid use for the treatment of bronchopulmonary dysplasia, considering that there is not a more effective therapy. Data sources: The literature review was carried out in the BIREME database, using the terms "bronchopulmonary dysplasia and corticosteroid" in the LILACS, IBECS, MEDLINE, Cochrane Library, and SciELO databases, selecting the most relevant articles on the subject, with emphasis on recent literature published in the last five years. Summary of the data: In preterm infants, bronchopulmonary dysplasia is still a common problem and remains without a specific therapy, despite knowledge of the several risk factors. The treatment essentially consists of supportive measures, but in the past, corticosteroids were widely used, as they are the only medications that have an impact on disease progression. However, the emergence of cerebral palsy associated with the indiscriminate use of corticosteroids has prevented the prescription of this drug in the last 15 years. Since then, no new measures have been taken, and the incidence of the disease tended to increase during this period, creating the need for a review of corticosteroid use and, possibly, more restricted indications. Conclusions: The association between risks and benefits of corticosteroid use in preterm infants needs to be considered due to the fact that some infant subpopulations may show more benefits than risks, such as those using mechanical ventilation with difficult weaning.

  7. Course of bronchopulmonary dysplasia. A radiographic follow-up

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    Mortensson, W.; Lindroth, M.

    Forty-one low weight premature infants treated with intermittent positive pressure ventilation in infancy were followed clinically and with chest radiography for 4 to 6 years. One child died during the period (sudden infantile death) and 2 others were not available for follow-up examination. The abnormal chest pattern of bronchopulmonary dysplasia (BPD) resolved completely or improved during the period; residual changes were found in 34 per cent of the cases. The main part of the resolution occurred during the first 2 years. Mild BPD was more prone to heal. The persisting parenchymal changes - interstitial fibrosis or areas of hyperinflation or both - were generally slight. The frequency of infection of the lower respiratory tract was increased during the first 2 years of life and was positively correlated to the severity of the pulmonary abnormalities. The frequency of infection dramatically decreased during the subsequent 2 years.

  8. Characteristics of lung function in pretermin fants with varying degress of bronchopulmonary dysplasia

    Institute of Scientific and Technical Information of China (English)

    卫敏超

    2013-01-01

    Objective To explore the characteristics of lung function in preterm infants with varying degrees of bronchopulmonary dysplasia (BPD) .Methods There were407 infants (278 males and 129 females) were recruited from Shenzhen Children’Hospital between January 2011

  9. Surfactant phosphatidylcholine half-life and pool size measurements in premature baboons developing bronchopulmonary dysplasia

    NARCIS (Netherlands)

    D.J. Janssen; V.P. Carnielli (Virgilio); P.E. Cogo (Paola); S.R. Seidner; I.H.I. Luijendijk; J.L.D. Wattimena (Josias); A.H. Jobe (Alan); L.J.I. Zimmermann (Luc)

    2002-01-01

    textabstractBecause minimal information is available about surfactant metabolism in bronchopulmonary dysplasia, we measured half-lives and pool sizes of surfactant phosphatidylcholine in very preterm baboons recovering from respiratory distress syndrome and developing bronchopulmon

  10. Surfactant phosphatidylcholine half-life and pool size measurements in premature baboons developing bronchopulmonary dysplasia

    OpenAIRE

    Janssen, D.J.; Carnielli, Virgilio; Cogo, Paola; Seidner, S.R.; Luijendijk, I.H.I.; Wattimena, Josias; Jobe, Alan; Zimmermann, Luc

    2002-01-01

    textabstractBecause minimal information is available about surfactant metabolism in bronchopulmonary dysplasia, we measured half-lives and pool sizes of surfactant phosphatidylcholine in very preterm baboons recovering from respiratory distress syndrome and developing bronchopulmonary dysplasia, using stable isotopes, radioactive isotopes, and direct pool size measurements. Eight ventilated premature baboons received (2)H-DPPC (dipalmitoyl phosphatidylcholine) on d 5 of life, and radioactive ...

  11. Regional Variation on Rates of Bronchopulmonary Dysplasia and Associated Risk Factors

    OpenAIRE

    María Ximena Rojas; Mario Augusto Rojas; Juan Manuel Lozano; Martín Alonso Rondón; Laura Patricia Charry

    2012-01-01

    Background. An abnormally high incidence (44%) of bronchopulmonary dysplasia with variations in rates among cities was observed in Colombia among premature infants. Objective. To identify risk factors that could explain the observed high incidence and regional variations of bronchopulmonary dysplasia. Study Design. A case-control study was designed for testing the hypothesis that differences in the disease rates were not explained by differences in city-of-birth specific population characteri...

  12. Reliability of CXR for the diagnosis of bronchopulmonary dysplasia

    International Nuclear Information System (INIS)

    Background. Bronchopulmonary dysplasia (BPD) continues to be prevalent, despite new treatment, in part because of increased survival in less mature infants. Investigations of new treatments have been hampered by a lack of universally accepted diagnostic criteria. Radiographic scoring systems have been developed to provide objective assessment of lung injury and risk for chronic lung disease. Objective. We sought to test the reliability of a recently reported system using chest radiography as the main tool for diagnosis of BPD. Materials and methods. One hundred chest radiographs, half demonstrating BPD and the other half without BPD, were analyzed by pediatric radiologists and by a neonatologist, using the Weinstein score (1-6, depending on increasing radiographic severity). The reliability of this scoring system was tested by kappa (k) statistics. Results. Reliability at the lowest threshold (dividing score 1 from score ≥ 2) was unacceptably low in this population. Reliability increased with inclusion of higher BPD scores in the comparison groups: 1-3 versus 4-6. Conclusion. Using the chest radiograph for the prediction of BPD is not reliable between different observers except at the two extremes of the disease. (orig.)

  13. Nutrition of preterm infants in relation to bronchopulmonary dysplasia

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    Tschirch Edda

    2011-02-01

    Full Text Available Background The pathogenesis of bronchopulmonary dysplasia (BPD is multifactorial. In addition to prenatal inflammation, postnatal malnutrition also affects lung development. Methods A retrospective study was performed to analyse during the first two weeks of life the total, enteral and parenteral nutrition of premature infants ( Results Ninety-five premature infants were analysed: 26 with BPD (27 ± 1 weeks and 69 without BPD (28 ± 1 weeks. There was no statistical significant difference in the total intake of fluids, calories, glucose or protein and weight gain per day in both groups. The risk of developing BPD was slightly increased in infants with cumulative caloric intake below the minimal requirement of 1230 kcal/kg and a cumulative protein intake below 43.5 g/kg. Furthermore, the risk of developing BPD was significantly higher when infants had a cumulative fluid intake above the recommended 1840 ml/kg. In infants who developed BPD, the enteral nutrition was significantly lower than in non-BPD infants [456 ml/kg (IQR 744, 235 vs. 685 (IQR 987, 511]. Infants who did not develop BPD reached 50% of total enteral feeding significantly faster [9.6 days vs. 11.5]. Conclusions Preterm infants developing BPD received less enteral feeding, even though it was well compensated by the parenteral nutrient supply. Data suggest that a critical minimal amount of enteral feeding is required to prevent development of BPD; however, a large prospective clinical study is needed to prove this assumption.

  14. Impact of bronchopulmonary dysplasia on brain and retina

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    Annie Wing Hoi Poon

    2016-04-01

    Full Text Available Many premature newborns develop bronchopulmonary dysplasia (BPD, a chronic lung disease resulting from prolonged mechanical ventilation and hyperoxia. BPD survivors typically suffer long-term injuries not only to the lungs, but also to the brain and retina. However, currently it is not clear whether the brain and retinal injuries in these newborns are related only to their prematurity, or also to BPD. We investigated whether the hyperoxia known to cause histologic changes in the lungs similar to BPD in an animal model also causes brain and retinal injuries. Sprague Dawley rat pups were exposed to hyperoxia (95% O2, ‘BPD’ group or room air (21% O2, ‘control’ group from postnatal day 4–14 (P4–14; the rat pups were housed in room air between P14 and P28. At P28, they were sacrificed, and their lungs, brain, and eyes were extracted. Hematoxylin and eosin staining was performed on lung and brain sections; retinas were stained with Toluidine Blue. Hyperoxia exposure resulted in an increased mean linear intercept in the lungs (P<0.0001. This increase was associated with a decrease in some brain structures [especially the whole-brain surface (P=0.02], as well as a decrease in the thickness of the retinal layers [especially the total retina (P=0.0008], compared to the room air control group. In addition, a significant negative relationship was observed between the lung structures and the brain (r=−0.49, P=0.02 and retina (r=−0.70, P=0.0008 structures. In conclusion, hyperoxia exposure impaired lung, brain, and retina structures. More severe lung injuries correlated with more severe brain and retinal injuries. This result suggests that the same animal model of chronic neonatal hyperoxia can be used to simultaneously study lung, brain and retinal injuries related to hyperoxia.

  15. Bronchopulmonary dysplasia: correlation of radiographic and clinical findings

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    Breysem, L. [Department of Radiology, University Hospitals, K. U. Leuven, Herestraat 49, B-3000 Leuven (Belgium); Smet, M.H. [Department of Radiology, University Hospitals, K. U. Leuven, Herestraat 49, B-3000 Leuven (Belgium); Lierde, S. van [Department of Pediatrics, University Hospitals of Leuven, Leuven (Belgium); Devlieger, H. [Department of Pediatrics, University Hospitals of Leuven, Leuven (Belgium); Boeck, K. de [Department of Pediatrics, University Hospitals of Leuven, Leuven (Belgium); Marchal, G. [Department of Radiology, University Hospitals, K. U. Leuven, Herestraat 49, B-3000 Leuven (Belgium)

    1997-08-01

    Background and purpose. Abnormalities of the chest wall have been described in bronchopulmonary dysplasia (BPD). Clinical, radiographic and pulmonary function variables were evaluated in 1-year-old children ventilated because of neonatal lung disease in order to quantify these thoracic changes and to evaluate the lung disease. Methods. The pulmonary status of 51 infants with neonatal lung disease requiring artificial ventilation was reevaluated clinically and radiographically at the age of 1 year. Twenty-two of these infants had developed BPD. Thoracic depth and width were measured clinically and on chest X-ray. The Toce score evaluated the presence of cardiomegaly, hyperinflation, emphysema and interstitial lung disease. Lung function was measured after sedation using previously reported methods. In BPD patients, Toce score and lung function were determined and compared at 1 month and at 1 year of age. Results. In BPD patients, chest depth was significantly smaller when measured clinically as well as on chest radiograph (P < 0.05; Mann-Whitney U-test). There was a statistically significant correlation between chest depth measured clinically and on chest X-ray. Toce score was significantly higher in BPD patients (P < 0.05). In BPD patients intersitial abnormalities and decreased lung compliance were more frequent at the age of 1 month than at the age of 1 year. At the age of 1 year, hyperinflation was more frequent and at that time increased airway resistance was still noted. Thus the type of X-ray abnormality reflects the type of lung function disturbance. Conclusion. The flatness of the chest is most likely a consequence of the long-standing lung function abnormalities. (orig.). With 3 figs., 6 tabs.

  16. Circulating Fibrocytes Are Increased in Neonates with Bronchopulmonary Dysplasia.

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    Chun Li

    Full Text Available Bronchopulmonary dysplasia (BPD is characterized by the aberrant remodeling of the lung parenchyma, resulting from accumulation of fibroblasts or myofibroblasts. Circulating fibrocytes are implied in pulmonary fibrosis, but whether these cells are associated with the development of BPD or the progressive fibrosis is unknown. The aim of the present study was to investigate the occurrence of fibrocytes in peripheral venous blood and explore whether these cells might be associated with severity of BPD.We investigated circulating fibrocytes in 66 patients with BPD, 23 patients with acute respiratory distress syndrome(ARDS and 11 normal subjects. Circulating fibrocytes were defined and quantified as cells positive for CD45 andcollagen-1 by flow cytometry. Furthermore, serum SDF-1/CXCL12 and TGF-β1 were evaluated using ELISA methods. We also investigated the clinical value of fibrocyte counts by comparison with standard clinical parameters.The patients with BPD had significantly increased numbers of fibrocytes compared to the controls (p < 0.01. Patients with ARDS were not different from healthy control subjects. There was a correlation between the number of fibrocytes and pulmonary hypertension or oxygen saturation (p < 0.05. Fibrocyte numbers were not correlated with other clinical or functional variables or radiologic severity scores. The fibrocyte attractant chemokine CXCL12 increased in plasma (p < 0.05 and was detectable in the bronchoalveolar lavage fluid of 40% of the patients but not in controls.These findings indicate that circulating fibrocytes are increased in patients with BPD and may contribute to pulmonary fibrosis in BPD. Circulating fibrocytes, likely recruited through the CXCR4/CXCL12 axis, might contribute to the production of TGF-β1 for the expansion of fibroblast/myofibroblast population in BPD.

  17. Nutrition of preterm infants with bronchopulmonary dysplasia after hospital discharge – Part II

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    Hercília Guimarães

    2014-01-01

    Full Text Available Preterm infants with bronchopulmonary dysplasia often present with severe growth failure at discharge from the neonatal intensive care unit. Catch-up growth accelerates after hospital discharge, nevertheless, feeding problems may need a specialized approach. Following the revision of the scientific literature on the most relevant aspects on nutrition of patients with bronchopulmonary dysplasia after hospital discharge in Part I, in this article the Authors present and discuss important issues such as catch up growth, swallow dysfunction, gastroesophageal reflux, and how to improve feeding competences.

  18. Extracellular matrix metabolism in bronchopulmonary dysplasia : Focus on lysyl hydroxylases and transglutaminases

    OpenAIRE

    Witsch, Jörn Thilo

    2013-01-01

    Bronchopulmonary dysplasia is a complication of premature birth characterized by impaired alveolar development. Remodeling of the ECM is a driving force for alveolarization and, if pertubated, may impair septation, suggesting dysregulation of ECM remodeling enzymes that drive collagen fiber formation and maturation: the procollagen-lysine, 2-oxoglutarate 5-dioxygenases (Plod) family, also known as lysyl hydroxylases (which catalyzes glycosylation and hydroxylation of collagen),...

  19. Neutrophil and monocyte adhesion molecules in bronchopulmonary dysplasia, and effects of corticosteroids

    OpenAIRE

    Ballabh, P; Simm, M; Kumari, J; Krauss, A; Jain, A.; Califano, C; Lesser, M.; Cunningham-Rundle..., S

    2004-01-01

    Aims: To study a longitudinal change in the expression of adhesion molecules CD11b, CD18, and CD62L on neutrophils and monocytes in very low birth weight babies who develop respiratory distress syndrome, to compare these levels between bronchopulmonary dysplasia (BPD) and non-BPD infants, and to assess the effect of corticosteroid treatment on these adhesion molecules.

  20. Role of serine proteases in the regulation of interleukin-877 during the development of bronchopulmonary dysplasia in preterm ventilated infants.

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    Mallinath Chakraborty

    Full Text Available The chemokine interleukin-8 is implicated in the development of bronchopulmonary dysplasia in preterm infants. The 77-amino acid isoform of interleukin-8 (interleukin-877 is a less potent chemoattractant than other shorter isoforms. Although interleukin-877 is abundant in the preterm circulation, its regulation in the preterm lung is unknown.To study expression and processing of pulmonary interleukin-877 in preterm infants who did and did not develop bronchopulmonary dysplasia.Total interleukin-8 and interleukin-877 were measured in bronchoalveolar lavage fluid from preterm infants by immunoassay. Neutrophil serine proteases were used to assess processing. Neutrophil chemotaxis assays and degranulation of neutrophil matrix metalloproteinase-9 were used to assess interleukin-8 function.Peak total interleukin-8 and interleukin-877 concentrations were increased in infants who developed bronchopulmonary dysplasia compared to those who did not. Shorter forms of interleukin-8 predominated in the preterm lung (96.3% No-bronchopulmonary dysplasia vs 97.1% bronchopulmonary dysplasia, p>0.05. Preterm bronchoalveolar lavage fluid significantly converted exogenously added interleukin-877 to shorter isoforms (p<0.001. Conversion was greater in bronchopulmonary dysplasia infants (p<0.05. This conversion was inhibited by α-1 antitrypsin and antithrombin III (p<0.01. Purified neutrophil serine proteases efficiently converted interleukin-877 to shorter isoforms in a time- and dose-dependent fashion; shorter interleukin-8 isoforms were primarily responsible for neutrophil chemotaxis (p<0.001. Conversion by proteinase-3 resulted in significantly increased interleukin-8 activity in vitro (p<0.01.Shorter, potent, isoforms interleukin-8 predominate in the preterm lung, and are increased in infants developing bronchopulmonary dysplasia, due to conversion of interleukin-877 by neutrophil serine proteases and thrombin. Processing of interleukin-8 provides an attractive

  1. Deregulation of the lysyl hydroxylase matrix cross-linking system in experimental and clinical bronchopulmonary dysplasia

    OpenAIRE

    Witsch, Thilo J.; Turowski, Paweł; Sakkas, Elpidoforos; Niess, Gero; Becker, Simone; Herold, Susanne; Mayer, Konstantin; Vadász, István; Roberts, Jesse D.; Seeger, Werner; Morty, Rory E.

    2013-01-01

    Bronchopulmonary dysplasia (BPD) is a common and serious complication of premature birth, characterized by a pronounced arrest of alveolar development. The underlying pathophysiological mechanisms are poorly understood although perturbations to the maturation and remodeling of the extracellular matrix (ECM) are emerging as candidate disease pathomechanisms. In this study, the expression and regulation of three members of the lysyl hydroxylase family of ECM remodeling enzymes (Plod1, Plod2, an...

  2. Understanding the Short- and Long-Term Respiratory Outcomes of Prematurity and Bronchopulmonary Dysplasia

    OpenAIRE

    Islam, Jessica Y; Keller, Roberta L; Aschner, Judy L.; Hartert, Tina V; Moore, Paul E

    2015-01-01

    Bronchopulmonary dysplasia (BPD) is a chronic respiratory disease associated with premature birth that primarily affects infants born at less than 28 weeks’ gestational age. BPD is the most common serious complication experienced by premature infants, with more than 8,000 newly diagnosed infants annually in the United States alone. In light of the increasing numbers of preterm survivors with BPD, improving the current state of knowledge of long-term respiratory morbidity for infants with BPD ...

  3. The role of patent ductus arteriosus and its treatments in the development of bronchopulmonary dysplasia

    OpenAIRE

    Clyman, Ronald I.

    2013-01-01

    A persistent left-to right shunt through a patent ductus arteriosus (PDA) increases the rate of hydrostatic fluid filtration into the lung’s interstitium, impairs pulmonary mechanics, and prolongs the need for mechanical ventilation. In preclinical trials, pharmacologic PDA closure leads to improved alveolarization and minimizes the impaired postnatal alveolar development that is the pathologic hallmark of the “new bronchopulmonary dysplasia (BPD)”. Although early pharmacologic closure of the...

  4. Bronchoconstriction following instillation of phenylephrine eye drops in premature infants with bronchopulmonary dysplasia: two cases report

    OpenAIRE

    Kim, Hyun Jee; Choi, Jin Guk; Kwak, Kyung-Hwa

    2015-01-01

    Premature infants requiring an ophthalmic examination or even surgery for retinopathy of prematurity (ROP) have a high prevalence of co-existing bronchopulmonary dysplasia (BPD). Reactive airway is one of the clinical presentations of BPD. We report two cases of bronchoconstriction following instillation of mydriatic eye drops. One occurred during induction of anesthesia for laser photocoagulation and the other before screening of ROP. The most likely cause in each case was phenylephrine eye ...

  5. A Clinical Scoring System to Predict the Development of Bronchopulmonary Dysplasia

    OpenAIRE

    Gürsoy, Tuğba; Hayran, Mutlu; Derin, Hatice; Ovalı, Fahri

    2015-01-01

    ObjectiveThis study aims to develop a scoring system for the prediction of bronchopulmonary dysplasia (BPD). MethodsMedical records of 652 infants whose gestational age and birth weight were below 32 weeks and 1,500g, respectively, and who survived beyond 28th postnatal day were reviewed retrospectively. Logistic regression methods were used to determine the clinical and demographic risk factors within the first 72 hours of life associated with BPD, as well as the weights of these factors on ...

  6. Nasal CPAP and surfactant for treatment of respiratory distress syndrome and prevention of bronchopulmonary dysplasia

    DEFF Research Database (Denmark)

    Verder, Henrik; Bohlin, Kajsa; Kamper, Jens;

    2009-01-01

    The Scandinavian approach is an effective combined treatment for respiratory distress syndrome (RDS) and prevention of bronchopulmonary dysplasia (BPD). It is composed of many individual parts. Of significant importance is the early treatment with nasal continuous positive airway pressure (nCPAP......-postnatal treatment with nCPAP and surfactant decreases the severity and mortality of RDS and BPD. This is mainly due to a diminished use of MV in the first days of life....

  7. Response to bronchodilators in very preterm infants with evolving bronchopulmonary dysplasia

    OpenAIRE

    Morrow DK; Schilling D; McEvoy CT

    2015-01-01

    Daniel K Morrow, Diane Schilling, Cindy T McEvoy Department of Pediatrics, Oregon Health and Science University, Portland, OR, USA Background: There are few effective and safe medications to treat very low birth weight (VLBW) infants with evolving bronchopulmonary dysplasia. Bronchodilators are often given to patients who have clinical signs of reactive airway disease, but there is not enough information regarding their effectiveness within this population. Objective: To quantify the pulmona...

  8. Severe bronchopulmonary dysplasia improved by noninvasive positive pressure ventilation: a case report

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    Mann Christian

    2011-09-01

    Full Text Available Abstract Introduction This is the first report to describe the feasibility and effectiveness of noninvasive positive pressure ventilation in the secondary treatment of bronchopulmonary dysplasia. Case presentation A former male preterm of Caucasian ethnicity delivered at 29 weeks gestation developed severe bronchopulmonary dysplasia. At the age of six months he was in permanent tachypnea and dyspnea and in need of 100% oxygen with a flow of 2.0 L/minute via a nasal cannula. Intermittent nocturnal noninvasive positive pressure ventilation was then administered for seven hours daily. The ventilator was set at a positive end-expiratory pressure of 6 cmH2O, with pressure support of 4 cmH2O, trigger at 1.4 mL/second, and a maximum inspiratory time of 0.7 seconds. Over the course of seven weeks, the patient's maximum daytime fraction of inspired oxygen via nasal cannula decreased from 1.0 to 0.75, his respiratory rate from 64 breaths/minute to 50 breaths/minute and carbon dioxide from 58 mmHg to 44 mmHg. Conclusion Noninvasive positive pressure ventilation may be a novel therapeutic option for established severe bronchopulmonary dysplasia. In the case presented, noninvasive positive pressure ventilation achieved sustained improvement in ventilation and thus prepared our patient for safe home oxygen therapy.

  9. Fluid and electrolyte balance during the first week of life and risk of bronchopulmonary dysplasia in the preterm neonate

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    Gustavo Rocha

    2010-01-01

    Full Text Available BACKGROUND: Early fluid and electrolyte imbalances may be associated with an increased risk of bronchopulmonary dysplasia. OBJECTIVE: We sought to establish an association between fluid and electrolyte balance in the first week of life and the risk of bronchopulmonary dysplasia. METHODS: Clinical charts of 205 neonates <32 weeks gestational age and/or <1,250 g birth weight (admitted to our NICU between 1997 and 2008 were analyzed. Clinical features, fluid and electrolyte balance were analyzed for the first 7 days of life using multivariate models of generalized estimation equations. A p value <0.05 was considered significant in all of the hypothesis tests. RESULTS: The prevalence of bronchopulmonary dysplasia was 22%. Lower gestational age and birth weight, male gender, less frequent use of antenatal steroids, respiratory distress syndrome, use of surfactant, patent ductus arteriosus, duration of invasive ventilation and NICU stay were significantly associated with bronchopulmonary dysplasia. The variation in serum values of potassium, phosphorus and creatinine during the first week of life also revealed an association with bronchopulmonary dysplasia. Higher mean plasma calcium values were associated with spontaneous closure of the patent ductus arteriosus. The use of indomethacin to induce patent ductus arteriosus closure was significantly higher in bronchopulmonary dysplasia patients. CONCLUSIONS: Differences in renal function and tubular handling of potassium and phosphorus are present during the first week of life among preterm neonates who will develop bronchopulmonary dysplasia. The higher rate of patent ductus arteriosus and indomethacin use may influence these differences. Serum levels of calcium also appear to play a role in spontaneous ductus arteriosus closure.

  10. Rib enlargement in premature infants with bronchopulmonary dysplasia

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    Yoon, Hye Kyung; Han, Kim Bokyung; Chang, Yun Sil; Choo, In Wook [Samsung Medical Center, School of Medicine, Sungkyunkwan University, Seoul (Korea, Republic of); Kim, Kyeong Ah [Anyang General Hospital, Anyang (Korea, Republic of)

    2000-04-01

    The purpose of this study is to describe the rib changes seen in patients with brochopulmonary dysplasia (BPD). Serial chest radiographs of nine premature infants with BPD who showed diffuse rib enlargement were reviewed for hyperinflation, which was compared with the observed degree of rib enlargement. Vibrator chest physiotherapy was performed in all cases, and five infants underwent conventional ventilation plus high frequency oscillatory ventilation therapy. Their calcium level was normal whereas alkaline phosphatase and phosphate levels were high. In all infants except one, liver enzyme levels were normal. For the treatment of patent ductus arteriosus, infection, and BPD, medications including indomethacin, antibiotics, and dexamethasone were administered. Vitamin D was given to all patients with total parenteral nutrition. Rib enlargement was found to be severe (n=3D4), moderate (n=3D3), or mild (n=3D2) with undulating margins or posterior tapering (n=3D2). Hyperinflation was noted in eight patients, in seven of whom it was moderate to severe. Among these seven, rib enlargement was severe (n=3D2), moderate (n=3D3), or mild (n=3D2). In one infant with mild hyperinflation, rib enlargement was severe. Bilateral irregular infiltrates and atelectases were noted in all patients. In BPD patients, rib enlargement may be seen. In order to differentiate this process from systemic bone disease or bony dysplasia, an awareness of the rib changes occurring in patients with BPD may be important. (author)

  11. Rib enlargement in premature infants with bronchopulmonary dysplasia

    International Nuclear Information System (INIS)

    The purpose of this study is to describe the rib changes seen in patients with brochopulmonary dysplasia (BPD). Serial chest radiographs of nine premature infants with BPD who showed diffuse rib enlargement were reviewed for hyperinflation, which was compared with the observed degree of rib enlargement. Vibrator chest physiotherapy was performed in all cases, and five infants underwent conventional ventilation plus high frequency oscillatory ventilation therapy. Their calcium level was normal whereas alkaline phosphatase and phosphate levels were high. In all infants except one, liver enzyme levels were normal. For the treatment of patent ductus arteriosus, infection, and BPD, medications including indomethacin, antibiotics, and dexamethasone were administered. Vitamin D was given to all patients with total parenteral nutrition. Rib enlargement was found to be severe (n=3D4), moderate (n=3D3), or mild (n=3D2) with undulating margins or posterior tapering (n=3D2). Hyperinflation was noted in eight patients, in seven of whom it was moderate to severe. Among these seven, rib enlargement was severe (n=3D2), moderate (n=3D3), or mild (n=3D2). In one infant with mild hyperinflation, rib enlargement was severe. Bilateral irregular infiltrates and atelectases were noted in all patients. In BPD patients, rib enlargement may be seen. In order to differentiate this process from systemic bone disease or bony dysplasia, an awareness of the rib changes occurring in patients with BPD may be important. (author)

  12. Bronchoconstriction following instillation of phenylephrine eye drops in premature infants with bronchopulmonary dysplasia: two cases report.

    Science.gov (United States)

    Kim, Hyun Jee; Choi, Jin Guk; Kwak, Kyung-Hwa

    2015-12-01

    Premature infants requiring an ophthalmic examination or even surgery for retinopathy of prematurity (ROP) have a high prevalence of co-existing bronchopulmonary dysplasia (BPD). Reactive airway is one of the clinical presentations of BPD. We report two cases of bronchoconstriction following instillation of mydriatic eye drops. One occurred during induction of anesthesia for laser photocoagulation and the other before screening of ROP. The most likely cause in each case was phenylephrine eye drops. We recommend that the minimal dosage of phenylephrine needed to attain proper mydriasis should be instilled to infant patients, and the possibility of bronchoconstriction occurrence kept in mind, especially for infants with low body weight with BPD. PMID:26634087

  13. High-resolution CT findings in infants with bronchopulmonary dysplasia: preliminary report

    International Nuclear Information System (INIS)

    To evaluate high resolution CT(HRCT) findings in infants with bronchopulmonary dysplasia(BPD). In 13 infants(age range, 1-12 months;11 premature babies, two full-term babies; birth weight, 0.97-3.88kg;mean 2,03kg) with clinico-radiologically suggested BPD, HRCT findings of the lung were reviewed retrospectively. Spiral CT using ultra high bone algorithm, 1mm collimation with 5-8mm interval, and 0.7sec scan time was performed without regard to breathing-control of infants. Three radiologists each analysed the HRCT findings twice. HRCT findings of BPD were as follows:parenchymal bands(n=13), interlobular septal thickenings (n=12), multifocal hyperaeration involving lobar or segmental distribution(n=7), and involving lobular distribution or small cyst-like lesion(n=4), centrilobular nodules(n=7), consolidation and/or atelectasis(n=7), and bronchovascular bundle thickening(n=6). Parenchymal bands, interlobular septal thickenings, and multifocal hyperaerations were the major findings in cases of bronchopulmonary dysplasia whereas, centrilobular nodules, consolidation and/or atelectasis, and bronchovascular bundle thickenings were the minor findings. These findings may be used as basic data in the evaluation of BPD in future studies

  14. Stem cell experiments moves into clinic: new hope for children with bronchopulmonary dysplasia.

    Science.gov (United States)

    Pawelec, K; Gładysz, D; Demkow, U; Boruczkowski, D

    2015-01-01

    Bronchopulmonary dysplasia (BPD) is a chronic lung disease with long-term complications that affects mainly preterm born children with low birth weights, especially those treated with mechanical ventilation and oxygen therapy. Successful treatment of BPD could reduce the incidence of other diseases of prematurity such as periventricular leukomalacia and retinopathy. The effects of current therapies are unsatisfactory; thus, searching for novel therapeutic is underway. One promising approach seems administration of mesenchymal stem cells (MSC). Preclinical data strongly support the role of progenitor cells in the preservation of lung structure. MSC can be found more often in pre-term than term umbilical cord and its isolation from Wharton's jelly carries a potential in treating diseases of prematurity. Several questions concerning the use of MSC in BPD remain to be answered, including the amount of transferred cells, intervals between infusions, the best route for administration and the timing. MSC can be administered as a treatment or prophylaxis. However, having in mind that not all prematurely born children are at risk of developing bronchopulmonary dysplasia, a search for laboratory markers identifying potential patients should be conducted. This review summarizes the latest achievements in MSC therapy in the context of BPD. PMID:25252892

  15. INCIDENCE OF BRONCHOPULMONARY DYSPLASIA IN PRETERM NEWBORNS SUBMITTED TO MECHANICAL VENTILATION: A RETROSPECTIVE STUDY OF 1250 PRETERM NEWBORNS

    Directory of Open Access Journals (Sweden)

    Leilianna de Souza Vieira

    2014-03-01

    Full Text Available Objective: To determine the incidence of preterm newborn infants in mechanical ventilation who developed bronchopulmonary dysplasia in a public hospital at Fortaleza/CE. Method: Descriptive, retrospective and longitudinal quantitative analysis with 1250 preterm infants admitted to the Intensive Care Unit, Dr. César Cals General Hospital, at Fortaleza, from July 2006 to June 2007. Data collection occurred during two months, with visits to units twice a week, where the medical records were done. Were included in these sample newborns that were in mechanical ventilation and developed bronchopulmonary dysplasia. Then the gestational average was 28.6 weeks; the mean weight of infants was 1125.33 grams, born vaginally or cesarean section, of both sexes and with various primary diseases such as respiratory distress syndrome, jaundice and neonatal infection. Results: In the sample from the total admissions, 34.48% were for mechanical ventilation and 3.48% developed bronchopulmonary dysplasia. Conclusion: Despite the low prevalence, bronchopulmonary dysplasia is a important complication of prematurity, directly related to the duration of mechanical ventilation, thus the team must be committed on weaning and extubation of those as soon as possible, preferably within the first week of life.

  16. Anatomical Closure of Left-to-Right Shunts in Premature Infants with Bronchopulmonary Dysplasia and Pulmonary Hypertension: A Cautionary Tale

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    Narendra R. Dereddy

    2015-10-01

    Full Text Available Closure of a systemic to pulmonary shunt in premature infants with bronchopulmonary dysplasia may be beneficial, but in the presence of pulmonary hypertension is controversial. Here, we discuss two premature infants with pulmonary hypertension who developed acute pulmonary hypertensive crisis after closure of these shunts and hence advise caution.

  17. Anatomical Closure of Left-to-Right Shunts in Premature Infants with Bronchopulmonary Dysplasia and Pulmonary Hypertension: A Cautionary Tale

    OpenAIRE

    Dereddy, Narendra R.; Chilakala, Sandeep R.; Divya Rana

    2015-01-01

    Closure of a systemic to pulmonary shunt in premature infants with bronchopulmonary dysplasia may be beneficial, but in the presence of pulmonary hypertension is controversial. Here, we discuss two premature infants with pulmonary hypertension who developed acute pulmonary hypertensive crisis after closure of these shunts and hence advise caution.

  18. Bronchopulmonary Dysplasia

    Science.gov (United States)

    ... RDS is a breathing disorder that mostly affects premature newborns. These infants' lungs aren't fully formed or aren't able to make enough surfactant (sur-FAK-tant). Surfactant is a liquid that ...

  19. Understanding the Short- and Long-Term Respiratory Outcomes of Prematurity and Bronchopulmonary Dysplasia.

    Science.gov (United States)

    Islam, Jessica Y; Keller, Roberta L; Aschner, Judy L; Hartert, Tina V; Moore, Paul E

    2015-07-15

    Bronchopulmonary dysplasia (BPD) is a chronic respiratory disease associated with premature birth that primarily affects infants born at less than 28 weeks' gestational age. BPD is the most common serious complication experienced by premature infants, with more than 8,000 newly diagnosed infants annually in the United States alone. In light of the increasing numbers of preterm survivors with BPD, improving the current state of knowledge of long-term respiratory morbidity for infants with BPD is a priority. We undertook a comprehensive review of the published literature to analyze and consolidate current knowledge of the effects of BPD that are recognized at specific stages of life, including infancy, childhood, and adulthood. In this review, we discuss both the short-term and long-term respiratory outcomes of individuals diagnosed as infants with the disease and highlight the gaps in knowledge needed to improve early and lifelong management of these patients. PMID:26038806

  20. Mesenchymal stromal cells in the development and therapy of bronchopulmonary dysplasia.

    Science.gov (United States)

    Möbius, Marius A; Rüdiger, Mario

    2016-12-01

    Bronchopulmonary dysplasia (BPD), the chronic lung disease of prematurity, remains a major healthcare burden. Despite great progresses in perinatal medicine over the past decades, no cure for BPD has been found. The complex pathophysiology of the disease further hampers the development of effective treatment strategies, but recent insights into the biology of mesenchymal stem (MSCs) and progenitor cells in lung development and disease have ignited the hope of preventing or even treating BPD. The promising results of pre-clinical studies have lead to the first early phase clinical trials. However, these treatments are experimental and much more needs to be learned about the mechanism of action and manufacturing of MSCs. In this mini review, we briefly summarize the role of resident and exogenous MSCs in the development and treatment of BPD. PMID:27142639

  1. Systemic Hydrocortisone To Prevent Bronchopulmonary Dysplasia in preterm infants (the SToP-BPD study); a multicenter randomized placebo controlled trial

    NARCIS (Netherlands)

    W. Onland; M. Offringa; F. Cools; A.P.M.C. De Jaegere; K. Rademaker; H. Blom; E. Cavatorta; A. Debeer; P.H. Dijk; A.F. van Heijst; B.W. Kramer; A.A. Kroon; T. Mohns; H.L. van Straaten; A.B. te Pas; C. Theyskens; M.M. van Weissenbruch; A.H. van Kaam

    2011-01-01

    ABSTRACT: BACKGROUND: Randomized controlled trials have shown that treatment of chronically ventilated preterm infants after the first week of life with dexamethasone reduces the incidence of the combined outcome death or bronchopulmonary dysplasia (BPD). However, there are concerns that dexamethaso

  2. Nasal continuous positive airway pressure combined with surfactant and NO for treatment of respiratory distress syndrome, prevention of bronchopulmonary dysplasia, and brain protection

    Institute of Scientific and Technical Information of China (English)

    Henrik Verder

    2010-01-01

    @@ Respiratory distress syndrome (RDS) is the single most important cause of mortality and morbidity in preterm infants and bronchopulmonary dysplasia (BPD)is a leading cause of neuro-muscular disablement and decreased lung function in the most preterm infants.

  3. Response to bronchodilators in very preterm infants with evolving bronchopulmonary dysplasia

    Directory of Open Access Journals (Sweden)

    Morrow DK

    2015-12-01

    Full Text Available Daniel K Morrow, Diane Schilling, Cindy T McEvoy Department of Pediatrics, Oregon Health and Science University, Portland, OR, USA Background: There are few effective and safe medications to treat very low birth weight (VLBW infants with evolving bronchopulmonary dysplasia. Bronchodilators are often given to patients who have clinical signs of reactive airway disease, but there is not enough information regarding their effectiveness within this population. Objective: To quantify the pulmonary function response to bronchodilator therapy in a population of VLBW infants with evolving bronchopulmonary dysplasia. Materials and methods: This is a retrospective analysis of an ongoing large database of pulmonary function tests (PFTs in premature infants. We reviewed the pre- and post-bronchodilator PFTs ordered by a physician due to concern for reactive airway disease. Inclusion criteria: Birth weight (BW <1,500 g; >14 days of age; admission diagnosis of respiratory distress syndrome; requiring ongoing oxygen, continuous positive airway pressure, or ventilator support at the time of PFT. PFTs were done prior to albuterol therapy and repeated 30 minutes after the therapy was given. PFTs included the measurement of passive respiratory mechanics with the single breath occlusion technique, including passive respiratory system compliance, resistance, and tidal volume. Results: Forty VLBW infants (mean gestation of 27.4 weeks; mean BW of 848 g were identified as having PFTs. Twenty-nine of these patients had a BW of ≤1,000 g. The patients were studied at a mean corrected gestational age of 34.9 weeks. Twenty-nine of 40 patients were extubated at the time of the PFT. Of these patients, 21 (52.5% had a decrease in respiratory system resistance of ≥10%. From the other 19 patients, five (12.5% had a decrease of 0% to <10% in respiratory system resistance, and 14(35% showed no response to therapy. There was no significant difference in respiratory system

  4. Significant Differences in Markers of Oxidant Injury between Idiopathic and Bronchopulmonary-Dysplasia-Associated Pulmonary Hypertension in Children

    OpenAIRE

    Vera, Kimberly B.; Donald Moore; English Flack; Michael Liske; Marshall Summar

    2012-01-01

    While oxidant stress is elevated in adult forms of pulmonary hypertension (PH), levels of oxidant stress in pediatric PH are unknown. The objective of this study is to measure F2-isoprostanes, a marker of oxidant stress, in children with idiopathic pulmonary hypertension (IPH) and PH due to bronchopulmonary dysplasia (BPD). We hypothesized that F2-isoprostanes in pediatric IPH and PH associated with BPD will be higher than in controls. Plasma F2-isoprostanes were measured in pediatric PH pati...

  5. Increased levels of phthalates in very low birth weight infants with septicemia and bronchopulmonary dysplasia.

    Science.gov (United States)

    Strømmen, Kenneth; Lyche, Jan Ludvig; Blakstad, Elin Wahl; Moltu, Sissel Jennifer; Veierød, Marit Bragelien; Almaas, Astrid Nylander; Sakhi, Amrit Kaur; Thomsen, Cathrine; Nakstad, Britt; Brække, Kristin; Rønnestad, Arild Erlend; Drevon, Christian André; Iversen, Per Ole

    2016-01-01

    Very low birth weight infants (VLBW; birth weightphthalates from medical devices during their hospital stay. We measured urinary phthalate concentrations among hospitalized VLBW infants participating in a nutritional study. Possible associations between different phthalates and birth weight (BW), septicemia and bronchopulmonary dysplasia (BPD) were evaluated. Forty-six VLBW infants were enrolled in this randomized controlled nutritional study. The intervention group (n=24) received increased quantities of energy, protein, fat, essential fatty acids and vitamin A, as compared to the control group (n=22). The concentrations of 12 urinary phthalate metabolites were measured, using high-performance liquid chromatography coupled to tandem mass spectrometry, at 3 time points during the first 5weeks of life. During this study, the levels of di (2-ethylhexyl) phthalate (DEHP) metabolites decreased, whereas an increasing trend was seen regarding metabolites of di-iso-nonyl phthalate (DiNP). Significantly higher levels of phthalate metabolites were seen in infants with lower BW and those diagnosed with late onset septicemia or BPD. A significant positive correlation between the duration of respiratory support and DEHP metabolites was observed (p≤0.01) at 2.9weeks of age. Birth weight was negatively associated with urinary phthalate metabolite concentrations. Infants with lower BW and those diagnosed with septicemia or BPD experienced prolonged exposure from medical equipment containing phthalates, with subsequent higher levels of phthalate metabolites detected. Clinical Trial Registration no.: NCT01103219. PMID:26922148

  6. Interleukin-4 and 13 concentrations in infants at risk to develop Bronchopulmonary Dysplasia

    Directory of Open Access Journals (Sweden)

    Kruger Thomas E

    2003-08-01

    Full Text Available Abstract Background An exaggerated inflammatory response occurs in the first few days of life in infants who subsequently develop bronchopulmonary dysplasia (BPD. The increase of inflammatory cytokines in many disease processes is generally balanced by a rise in anti-inflammatory cytokines. Interleukin-4 (IL-4 and interleukin-13 (IL-13 have been shown to inhibit production of several inflammatory cytokines important in the development of BPD. Methods We sought to determine if a correlation exists between the presence or absence of IL-4 and IL-13 in tracheal aspirates (TA during the first 3 weeks of life and the development of BPD in premature infants. Serial TAs were prospectively obtained from 36 very low birth weight infants and IL-4 and IL-13 concentrations were determined by ELISA. Results Infants who developed BPD (n = 19 were less mature (25.3 ± 0.02 wks vs. 27.8 ± 0.05 wks; p Conclusions TA concentrations of IL-4 and IL-13 do not increase significantly during acute lung injury in premature infants.

  7. Pulmonary perfusion scintigraphy in the evaluation of the severity of bronchopulmonary dysplasia

    International Nuclear Information System (INIS)

    Objective. The objectives of this study were to analyze the changes in pulmonary perfusion in bronchopulmonary dysplasia (BPD) and to assess the advantages of this method in evaluating the severity of BPD. Patients and methods. The study group was made up of 10 children with BPD, matched with a control group of 12 children. The criteria for matching were birth weight, gestational age and need for ventilation for more than 3 days. Clinical and roentgenographic scoring systems were applied on the 21st day of life. At 6 months of corrected age, clinical evolutive severity was evaluated and a pulmonary perfusion scintigraphy using technetium-99 was performed in each child. The scintigraphic findings were classified in five categories ranging from normal to severely affected, depending on the degree and localization of perfusion abnormalities. Another score was obtained by assigning a value from 1 to 5 to each pulmonary lobe, depending on the concentration of the tracer. Results. The study of clinical, roentgenographic and evolutive scores always showed higher values in children with BPD, with good correlation between methods (P < 0.001). In the BPD group, abnormal lung perfusion patterns were more frequent and more severe (P < 0.05), the lobe scoring was higher (P < 0.05), and a lower count rate was found (P < 0.01). Conclusion. Pulmonary scintigraphy is a useful technique in evaluating the severity of BPD. (orig.). With 1 fig., 3 tabs

  8. Association of a FGFR-4 Gene Polymorphism with Bronchopulmonary Dysplasia and Neonatal Respiratory Distress

    Directory of Open Access Journals (Sweden)

    Milad Rezvani

    2013-01-01

    Full Text Available Background. Bronchopulmonary dysplasia (BPD is the most common chronic lung disease of premature birth, characterized by impaired alveolar development and inflammation. Pathomechanisms contributing to BPD are poorly understood. However, it is assumed that genetic factors predispose to BPD and other pulmonary diseases of preterm neonates, such as neonatal respiratory distress syndrome (RDS. For association studies, genes upregulated during alveolarization are major candidates for genetic analysis, for example, matrix metalloproteinases (MMPs and fibroblast growth factors (FGFs and their receptors (FGFR. Objective. Determining genetic risk variants in a Caucasian population of premature neonates with BPD and RDS. Methods. We genotyped 27 polymorphisms within 14 candidate genes via restriction fragment length polymorphism (RFLP: MMP-1, -2, -9, and -12, -16, FGF receptors 2 and 4, FGF-2, -3, -4, -7, and -18, Signal-Regulatory Protein α (SIRPA and Thyroid Transcription Factor-1 (TTF-1. Results. Five single nucleotide polymorphisms (SNPs in MMP-9, MMP-12, FGFR-4, FGF-3, and FGF-7 are associated ( with RDS, defined as surfactant application within the first 24 hours after birth. One of them, in FGFR-4 (rs1966265, is associated with both RDS ( and BPD (. Conclusion. rs1966265 in FGF receptor 4 is a possible genetic key variant in alveolar diseases of preterm newborns.

  9. Differential expression of long non-coding RNAs in hyperoxia-induced bronchopulmonary dysplasia.

    Science.gov (United States)

    Bao, Tian-Ping; Wu, Rong; Cheng, Huai-Ping; Cui, Xian-Wei; Tian, Zhao-Fang

    2016-07-01

    Bronchopulmonary dysplasia (BPD) is a common complication of premature birth that seriously affects the survival rate and quality of life among preterm neonates. Long non-coding RNAs (lncRNAs) have been implicated in many human diseases. However, the role of lncRNAs in the pathogenesis of BPD remains poorly understood. Here, we exposed neonatal C57BL/6J mice to 95% concentrations of ambient oxygen and established a mouse lung injury model that mimicked human BPD. Next, we compared lncRNA and messenger RNA (mRNA) expression profiles between BPD and normal lung tissues using a high-throughput mouse lncRNA + mRNA array system. Compared with the control group, 882 lncRNAs were upregulated, and 887 lncRNAs were downregulated in BPD lung tissues. We validated some candidate BPD-associated lncRNAs by real-time quantitative reverse-transcription polymerase chain reaction analysis in eight pairs of BPD and normal lung tissues. Gene ontology, pathway and bioinformatics analyses revealed that a downregulated lncRNA, namely AK033210, associated with tenascin C may be involved in the pathogenesis of BPD. To the best of our knowledge, our study is the first to reveal differential lncRNA expression in BPD, which provides a foundation for further understanding of the molecular mechanism of BPD development. Copyright © 2016 John Wiley & Sons, Ltd. PMID:27137150

  10. Hydrogen-rich water ameliorates bronchopulmonary dysplasia (BPD) in newborn rats.

    Science.gov (United States)

    Muramatsu, Yukako; Ito, Mikako; Oshima, Takahiro; Kojima, Seiji; Ohno, Kinji

    2016-09-01

    Bronchopulmonary dysplasia (BPD) is characterized by developmental arrest of the alveolar tissue. Oxidative stress is causally associated with development of BPD. The effects of hydrogen have been reported in a wide range of disease models and human diseases especially caused by oxidative stress. We made a rat model of BPD by injecting lipopolysaccharide (LPS) into the amniotic fluid at E16.5. The mother started drinking hydrogen-rich water from E9.5 and also while feeding milk. Hydrogen normalized LPS-induced abnormal enlargement of alveoli at P7 and P14. LPS increased staining for nitrotyrosine and 8-OHdG of the lungs, and hydrogen attenuated the staining. At P1, LPS treatment decreased expressions of genes for FGFR4, VEGFR2, and HO-1 in the lungs, and hydrogen increased expressions of these genes. In contrast, LPS treatment and hydrogen treatment had no essential effect on the expression of SOD1. Inflammatory marker proteins of TNFα and IL-6 were increased by LPS treatment, and hydrogen suppressed them. Treatment of A549 human lung adenocarcinoma epithelial cells with 10% hydrogen gas for 24 hr decreased production of reactive oxygen species in both LPS-treated and untreated cells. Lack of any known adverse effects of hydrogen makes hydrogen a promising therapeutic modality for BPD. Pediatr Pulmonol. 2016; 51:928-935. © 2016 Wiley Periodicals, Inc. PMID:26845501

  11. Mechanisms of cough provocation and cough resolution in neonates with bronchopulmonary dysplasia

    Science.gov (United States)

    Jadcherla, Sudarshan R.; Hasenstab, Kathryn A.; Shaker, Reza; Castile, Robert G.

    2016-01-01

    Background Cough and deglutition are protective mechanisms that defend against aspiration. We identified mechanisms associated with cough provocation as well as those associated with cough resolution in infants with bronchopulmonary dysplasia (BPD). Methods Manometry signatures of cough were recognized in 16 premature infants with BPD undergoing concurrent esophageal manometry, respiratory inductance plethysmography, and nasal air flow measurements. Pretussive and posttussive pharyngo-esophageal motility changes were analyzed. Mechanisms associated with cough and mechanisms that restored respiratory and esophageal normalcy were analyzed. Results We analyzed 312 cough events during 88 cough clusters; 97% were associated with recognizable manometric patterns. Initial mechanisms related with coughing included nonpropagating swallow (59%), upper esophageal sphincter (UES) reflex contraction (18%), and lower esophageal sphincter (LES) relaxation (14%). UES and LES dysfunction was present in 69% of nonpropagating swallow-associated cough clusters. Mechanisms restoring post-tussive normalcy included primary peristalsis (84%), secondary peristalsis (8%), and none recognized (8%). UES contraction reflex was associated with cough clusters more frequently in infants on nasal continuous positive airway pressure (NCPAP) (OR = 9.13, 95% CI = 1.88–44.24). Conclusion Cough clusters in infants with BPD had identifiable etiologies associated with esophageal events; common initial mechanisms were of upper aerodigestive origin, while common clearing mechanisms were peristaltic reflexes. PMID:26151491

  12. Development of a proxy-reported pulmonary outcome scale for preterm infants with bronchopulmonary dysplasia

    Directory of Open Access Journals (Sweden)

    Laughon Matthew M

    2011-07-01

    Full Text Available Abstract Background To develop an accurate, proxy-reported bedside measurement tool for assessment of the severity of bronchopulmonary dysplasia (also called chronic lung disease in preterm infants to supplement providers' current biometric measurements of the disease. Methods We adapted Patient-Reported Outcomes Measurement Information System (PROMIS methodology to develop the Proxy-Reported Pulmonary Outcomes Scale (PRPOS. A multidisciplinary group of registered nurses, nurse practitioners, neonatologists, developmental specialists, and feeding specialists at five academic medical centers participated in the PRPOS development, which included five phases: (1 identification of domains, items, and responses; (2 item classification and selection using a modified Delphi process; (3 focus group exploration of items and response options; (4 cognitive interviews on a preliminary scale; and (5 final revision before field testing. Results Each phase of the process helped us to identify, classify, review, and revise possible domains, questions, and response options. The final items for field testing include 26 questions or observations that a nurse assesses before, during, and after routine care time and feeding. Conclusions We successfully created a prototype scale using modified PROMIS methodology. This process can serve as a model for the development of proxy-reported outcomes scales in other pediatric populations.

  13. Persistent pulmonary abnormalities in newborns: The changing picture of bronchopulmonary dysplasia

    International Nuclear Information System (INIS)

    Significant changes in the radiographic features of bronchopulmonary dysplasia (BPD) have accompanied recent advances in treatment of neonatal respiratory distress syndrome. Retrospective study of 709 newborns showed atypical radiographic findings in many patients with clinical BPD. While 12/20 infants with clinical BPD showed changes identical to Northway's stage 4 disease, the remaining 8 (40% of patients with significant respiratory dysfunction) had diffuse, fine infiltrates without emphysema. Radiographic progression from RDS through all Northway stages was observed in only 4 patients. Diagnosis of stage 2 BPD was complicated by the presence of PDA in 9/17 cases. Stage 3 BPD was identified with certainty in only 5 infants, but may have coexisted with PIE in as many as 22 cases. Nevertheless, there was close agreement between the radiographic findings and clinical severity of chronic lung disease. Mild (type 1) infiltrates following RDS may be distinguished from chronic pulmonary insufficiency of prematurity (CPIP) or ''immature lung''. In patients who require only short-term supplemental 02, type 1 changes may reflect delayed resolution of RDS in an undeveloped lung. These same findings in infants with prolonged 02 dependence usually indicate a mild form of BPD. Coarse infiltrates and emphysema (type 2) are almost always associated with severe respiratory impairment. (orig.)

  14. Ultrafast CT scoring system for assessing bronchopulmonary dysplasia. Reproducibility and clinical correlation

    International Nuclear Information System (INIS)

    To evaluate the reproducibility of the Ultrafast CT (UFCT) scoring system and assess its usefulness in monitoring clinical severity in infants with bronchopulmonary dysplasia (BPD). UFCT scoring was done in 22 infants (15 boys and 7 girls aged 1 to 37 months) with BPD. A total of 258 lung fields were evaluated for the presence of hyperaeration, linear opacities, triangular subpleural opacities, and bronchovascular bundle distortion or thickening, and UFCT scores were given. Intraobserver and interobserver agreement and reproducibility of UFCT scores were statistically analyzed. In 12 patients, UFCT scores were linearly correlated with clinical severity scores based on respiratory dysfunction and complexity of care. 'Hyperaeration,' which was the most frequent (18 of 22, 81.8%) finding, showed high concordance (κ=0.73, p<0.001, κ=0.59, p<0.001), and its UFCT scores significantly correlated with intraobserver and interobserver analyses (r=0.94, p<0.001, r=0.82, p<0.001, respectively). UFCT scores for hyperaeration significantly correlated with clinical scores (r=0.75, p<0.01), whereas those for the others did not. UFCT is useful for assessing BPD. Hyperaeration was the most common and reproducible finding, and its extent significantly correlated with clinical severity. (author)

  15. A Relationship between Epithelial Maturation, Bronchopulmonary Dysplasia, and Chronic Obstructive Pulmonary Disease

    Directory of Open Access Journals (Sweden)

    Abraham B. Roos

    2012-01-01

    Full Text Available Premature infants frequently develop bronchopulmonary dysplasia (BPD. Lung immaturity and impaired epithelial differentiation contribute together with invasive oxygen treatment to BPD onset and disease progression. Substantial evidence suggests that prematurity is associated with long term pulmonary consequences. Moreover, there is increasing concern that lung immaturity at birth may increase the risk of developing chronic obstructive pulmonary disease (COPD. The mechanisms contributing to this phenomenon remains unknown, largely as a consequence of inadequate experimental models and clinical follow-up studies. Recent evidence suggests that defective transcriptional regulation of epithelial differentiation and maturation may contribute to BPD pathogenesis as well as early onset of COPD. The transcriptional regulators CCAAT/enhancer-binding protein (C/EBPα and C/EBPβ, SMAD family member (Smad3, GATA binding protein (GATA6, and NK2 homeobox (NKX2-1 are reported to be involved in processes contributing to pathogenesis of both BPD and COPD. Increased knowledge of the mechanisms contributing to early onset COPD among BPD survivors could translate into improved treatment strategies and reduced frequency of respiratory disorders among adult survivors of BPD. In this paper, we introduce critical transcriptional regulators in epithelial differentiation and summarize the current knowledge on the contribution of impaired epithelial maturation to the pathogenesis of inflammatory lung disorders.

  16. Deregulation of the lysyl hydroxylase matrix cross-linking system in experimental and clinical bronchopulmonary dysplasia.

    Science.gov (United States)

    Witsch, Thilo J; Turowski, Pawel; Sakkas, Elpidoforos; Niess, Gero; Becker, Simone; Herold, Susanne; Mayer, Konstantin; Vadász, István; Roberts, Jesse D; Seeger, Werner; Morty, Rory E

    2014-02-01

    Bronchopulmonary dysplasia (BPD) is a common and serious complication of premature birth, characterized by a pronounced arrest of alveolar development. The underlying pathophysiological mechanisms are poorly understood although perturbations to the maturation and remodeling of the extracellular matrix (ECM) are emerging as candidate disease pathomechanisms. In this study, the expression and regulation of three members of the lysyl hydroxylase family of ECM remodeling enzymes (Plod1, Plod2, and Plod3) in clinical BPD, as well as in an experimental animal model of BPD, were addressed. All three enzymes were localized to the septal walls in developing mouse lungs, with Plod1 also expressed in the vessel walls of the developing lung and Plod3 expressed uniquely at the base of developing septa. The expression of plod1, plod2, and plod3 was upregulated in the lungs of mouse pups exposed to 85% O2, an experimental animal model of BPD. Transforming growth factor (TGF)-β increased plod2 mRNA levels and activated the plod2 promoter in vitro in lung epithelial cells and in lung fibroblasts. Using in vivo neutralization of TGF-β signaling in the experimental animal model of BPD, TGF-β was identified as the regulator of aberrant plod2 expression. PLOD2 mRNA expression was also elevated in human neonates who died with BPD or at risk for BPD, compared with neonates matched for gestational age at birth or chronological age at death. These data point to potential roles for lysyl hydroxylases in normal lung development, as well as in perturbed late lung development associated with BPD. PMID:24285264

  17. MicroRNA in late lung development and bronchopulmonary dysplasia: the need to demonstrate causality.

    Science.gov (United States)

    Nardiello, Claudio; Morty, Rory E

    2016-12-01

    MicroRNA are emerging as powerful regulators of cell differentiation and tissue and organ development. Several microRNA have been described to play a role in branching morphogenesis, a key step in early lung development. However, considerably less attention has been paid to microRNA as regulators of the process of secondary septation, which drives lung alveolarization during late lung development. Secondary septation is severely perturbed in bronchopulmonary dysplasia (BPD), a common complication of preterm birth characterized by blunted alveolarization. A number of studies to date have reported microRNA microarray screens in animal models of BPD; however, only two studies have attempted to demonstrate causality. Although the expression of miR-150 was altered in experimental BPD, a miR-150(-/-) knockout mouse did not exhibit appreciable protection in a BPD animal model. Similarly, while the expression of miR-489 in the lung was reduced in clinical and experimental BPD, antagomiR and over-expression approaches could not validate a role for miR-489 in the impaired alveolarization associated with experimental BPD. This mini-review aims to highlight microRNA that have been revealed by multiple microarray studies to be potential causal players in normal and pathological alveolarization. Additionally, the challenges faced in attempting to demonstrate a causal role for microRNA in lung alveolarization are discussed. These include the tremendous variability in the animal models employed, and the limitations and advantages offered by the available tools, including antagomiRs and approaches for the validation of a specific microRNA-mRNA interaction during lung alveolarization. PMID:27216745

  18. Protective effects of BMSCs in combination with erythropoietin in bronchopulmonary dysplasia-induced lung injury.

    Science.gov (United States)

    Zhang, Zhao-Hua; Pan, Yan-Yan; Jing, Rui-Sheng; Luan, Yun; Zhang, Luan; Sun, Chao; Kong, Feng; Li, Kai-Lin; Wang, Yi-Biao

    2016-08-01

    Bronchopulmonary dysplasia (BPD) is the most common type of chronic lung disease in infancy, for which no effective therapy is currently available. The aim of the present study was to investigate the effect of treatment with bone marrow mesenchymal stem cells (BMSCs) in combination with recombinant human erythropoietin (rHuEPO) on BPD‑induced mouse lung injury, and discuss the underlying mechanism. The BPD model was established by the exposure of neonatal mice to continuous high oxygen exposure for 14 days, following which 1x106 BMSCs and 5,000 U/kg rHuEPO were injected into the mice 1 h prior to and 7 days following exposure to hyperoxia. The animals received four treatments in total (n=10 in each group). After 14 days, the body weights, airway structure, and levels of matrix metalloproteinase‑9 (MMP‑9) and vascular endothelial growth factor (VEGF) were detected using histological and immunohistochemical analyses. The effect on cell differentiation was observed by examining the presence of platelet endothelial cell adhesion molecule (PECAM) and VEGF using immunofluorescence. Compared with the administration of BMSCs alone, the body weight, airway structure, and the levels of MMP‑9 and VEGF were significantly improved in the BMSCs/rHuEPO group. The results of the present study demonstrated that the intravenous injection of BMSCs significantly improved lung damage in the hyperoxia‑exposed neonatal mouse model. Furthermore, the injection of BMSCs in combination with intraperitoneal injection of rHuEPO had a more marked effect, compared with BMSCs alone, and the mechanism may be mediated by the promoting effects of BMSCs and EPO. The results of the present study provided information, which may assist in future clinical trials. PMID:27279073

  19. Correlation of radiographic thoracic area and oxygenation impairment in bronchopulmonary dysplasia.

    Science.gov (United States)

    Dassios, Theodore; Curley, Anna; Krokidis, Miltiadis; Morley, Colin; Ross-Russell, Robert

    2016-01-01

    We hypothesized that radiographically-assessed hyperinflation in bronchopulmonary dysplasia (BPD) is related to the degree of oxygenation impairment. Our objective was to explore the relation of chest radiographic thoracic area (CRTA) with right-to-left shunt, right shift of the oxyhemoglobin dissociation curve and ventilation/perfusion ratio (VA/Q) in infants with BPD. Twenty-two infants born at median (IQR) gestation of 26 (24-28) weeks with BPD were prospectively studied at 39 (30-69) days. Inspired oxygen (FiO2) was varied to obtain transcutaneous oxygen saturation (SpO2) values between 85 and 96%. Shunt, shift and VA/Q were derived by plotting and analysing pairs of SpO2 and FiO2. CRTA was measured by free hand-tracing the perimeter of the thoracic area in anterio-posterior chest radiographs. Median (IQR) shunt was 8 (1-14)%, shift was 13 (11-19)kPa and VA/Q 0.42 (0.30-0.48). Median (IQR) CRTA/kg was 2495 (1962-2838)mm(2) and was significantly related to shift (r=0.674, p<0.001), VA/Q (r=-0.633, p<0.001), weight at study (r=-0.457, p=0.003) and day of life (r=-0.406, p=0.009), but not to shunt. CRTA in BPD is significantly related to oxygenation impairment as quantified by shift and VA/Q. CRTA can be used as a simple radiographic test to quantify BPD severity. PMID:26410458

  20. MicroRNA-mRNA interactions in a murine model of hyperoxia-induced bronchopulmonary dysplasia

    Directory of Open Access Journals (Sweden)

    Dong Jie

    2012-05-01

    Full Text Available Abstract Background Bronchopulmonary dysplasia is a chronic lung disease of premature neonates characterized by arrested pulmonary alveolar development. There is increasing evidence that microRNAs (miRNAs regulate translation of messenger RNAs (mRNAs during lung organogenesis. The potential role of miRNAs in the pathogenesis of BPD is unclear. Results Following exposure of neonatal mice to 80% O2 or room air (RA for either 14 or 29 days, lungs of hyperoxic mice displayed histological changes consistent with BPD. Comprehensive miRNA and mRNA profiling was performed using lung tissue from both O2 and RA treated mice, identifying a number of dynamically regulated miRNAs and associated mRNA target genes. Gene ontology enrichment and pathway analysis revealed that hyperoxia modulated genes involved in a variety of lung developmental processes, including cell cycle, cell adhesion, mobility and taxis, inflammation, and angiogenesis. MiR-29 was prominently increased in the lungs of hyperoxic mice, and several predicted mRNA targets of miR-29 were validated with real-time PCR, western blotting and immunohistochemistry. Direct miR-29 targets were further validated in vitro using bronchoalveolar stem cells. Conclusion In newborn mice, prolonged hyperoxia induces an arrest of alveolar development similar to that seen in human neonates with BPD. This abnormal lung development is accompanied by significant increases in the levels of multiple miRNAs and corresponding decreases in the levels of predicted mRNA targets, many of which have known or suspected roles in pathways altered in BPD. These data support the hypothesis that dynamic regulation of miRNAs plays a prominent role in the pathophysiology of BPD.

  1. Persistently elevated right ventricular index of myocardial performance in preterm infants with incipient bronchopulmonary dysplasia.

    Directory of Open Access Journals (Sweden)

    Christoph Czernik

    Full Text Available OBJECTIVES: Elevated pulmonary vascular resistance occurs during the first days after birth in all newborn infants and persists in infants at risk for bronchopulmonary dysplasia (BPD. It is difficult to measure in a non-invasive fashion. We assessed the usefulness of the right ventricular index of myocardial performance (RIMP to estimate pulmonary vascular resistance in very low birth weight infants. STUDY DESIGN: Prospective echocardiography on day of life (DOL 2, 7, 14, and 28 in 121 preterm infants (median [quartiles] gestational age 28 [26]-[29] weeks, birth weight 998 [743-1225] g of whom 36 developed BPD (oxygen supplementation at 36 postmenstrual weeks. RESULTS: RIMP derived by conventional pulsed Doppler technique was unrelated to heart rate or mean blood pressure. RIMP on DOL 2 was similar in infants who subsequently did (0.39 [0.33-0.55] and did not develop BPD (0.39 [0.28-0.51], p = 0.467. RIMP declined steadily in non-BPD infants but not in BPD infants (DOL 7: 0.31[0.22-0.39] vs. 0.35[0.29-0.48], p = 0.014; DOL 14: 0.23[0.17-0.30] vs. 0.35[0.25-0.43], p<0.001; DOL 28: 0.21[0.15-0.28] vs. 0.31 [0.21-0.35], p = 0.015. CONCLUSIONS: In preterm infants, a decline in RIMP after birth was not observed in those with incipient BPD. The pattern of RIMP measured in preterm infants is commensurate with that of pulmonary vascular resistance.

  2. Fractal analysis of alveolarization in hyperoxia-induced rat models of bronchopulmonary dysplasia.

    Science.gov (United States)

    Porzionato, Andrea; Guidolin, Diego; Macchi, Veronica; Sarasin, Gloria; Grisafi, Davide; Tortorella, Cinzia; Dedja, Arben; Zaramella, Patrizia; De Caro, Raffaele

    2016-04-01

    No papers are available about potentiality of fractal analysis in quantitative assessment of alveolarization in bronchopulmonary dysplasia (BPD). Thus, we here performed a comparative analysis between fractal [fractal dimension (D) and lacunarity] and stereological [mean linear intercept (Lm), total volume of alveolar air spaces, total number of alveoli, mean alveolar volume, total volume and surface area of alveolar septa, and mean alveolar septal thickness] parameters in experimental hyperoxia-induced models of BPD. At birth, rats were distributed between the following groups: 1) rats raised in ambient air for 2 wk; 2) rats exposed to 60% oxygen for 2 wk; 3) rats raised in normoxia for 6 wk; and 4) rats exposed to 60% hyperoxia for 2 wk and to room air for further 4 wk. Normoxic 6-wk rats showed increased D and decreased lacunarity with respect to normoxic 2-wk rats, together with changes in all stereological parameters except for mean alveolar volume. Hyperoxia-exposed 2-wk rats showed significant changes only in total number of alveoli, mean alveolar volume, and lacunarity with respect to equal-in-age normoxic rats. In the comparison between 6-wk rats, the hyperoxia-exposed group showed decreased D and increased lacunarity, together with changes in all stereological parameters except for septal thickness. Analysis of receiver operating characteristic curves showed a comparable discriminatory power of D, lacunarity, and total number of alveoli; Lm and mean alveolar volume were less discriminative. D and lacunarity did not show significant changes when different segmentation thresholds were applied, suggesting that the fractal approach may be fit to automatic image analysis. PMID:26851258

  3. A Comparison of KL-6 and Clara Cell Protein as Markers for Predicting Bronchopulmonary Dysplasia in Preterm Infants

    OpenAIRE

    Keyi Wang; Xianmei Huang; Hui Lu; Zhiqun Zhang

    2014-01-01

    Objectives. To evaluate the predictive characteristics of KL-6 and CC16 for bronchopulmonary dysplasia (BPD) in preterm infants, either independently or in combination. Study Design. This prospective cohort study was performed from 2011 to 2013 with preterm neonates of gestational age ≤32 weeks and birth weight ≤1500 g. Serum KL-6 and CC16 levels were determined 7 and 14 days after birth. Results. Seventy-three preterm infants were studied. BPD was identified in 24 of these infants. After adj...

  4. Excessive gas exchange impairment during exercise in a subject with a history of bronchopulmonary dysplasia and high altitude pulmonary edema

    OpenAIRE

    Lovering, AT; Romer, LM; Haverkamp, HC; Hokanson, JS.; Eldridge, MW

    2007-01-01

    A 27-year-old male subject (V(O2 max)), 92% predicted) with a history of bronchopulmonary dysplasia (BPD) and a clinically documented case of high altitude pulmonary edema (HAPE) was examined at rest and during exercise. Pulmonary function testing revealed a normal forced vital capacity (FVC, 98.1% predicted) and diffusion capacity for carbon monoxide (D(L(CO)), 91.2% predicted), but significant airway obstruction at rest [forced expiratory volume in 1 sec (FEV(1)), 66.5% predicted; forced ex...

  5. MicroRNA expression profiling studies on bronchopulmonary dysplasia: a systematic review and meta-analysis.

    Science.gov (United States)

    Yang, Y; Qiu, J; Kan, Q; Zhou, X-G; Zhou, X-Y

    2013-01-01

    Over the past several years, several microRNA (miRNA) expression profiling studies have been carried out on bronchopulmonary dysplasia (BPD) in mammalian lung tissues. The most effective way to identify these important miRNAs is to systematically search for similar signatures identified in multiple independent studies. Accordingly, a meta-analysis was conducted to review published miRNA expression profiling studies that compared miRNA expression profiles between BPD lung tissues and normal lung tissues. A vote-counting strategy that considered the total number of studies and time points reporting differential expression was applied. Furthermore, cut-off criteria of statistically significant differentially expressed miRNAs as defined by the author and their predicted target genes, if available, as well as the list of up- and down-regulated miRNA features, were collected and recorded. Results of the meta-analysis revealed that four up-regulated miRNAs (miRNA-21, miRNA-34a, miRNA-431, and Let-7f) and one down-regulated miRNA (miRNA-335) were differentially expressed in BPD lung tissues compared with normal groups. In addition, eight miRNAs (miRNA-146b, miRNA-29a, miRNA-503, miRNA-411, miRNA-214, miRNA-130b, miRNA-382, and miRNA-181a-1*) were found to show differential expression not only in the process of normal lung development, but also during the progress of BPD. Finally, several meaningful target genes (such as the HPGD and NTRK genes) of common miRNAs (such as miRNA-21 and miRNA-141) were systematically predicted. These specific miRNAs may provide clues of the potential mechanisms involved in BPD. Further mechanistic and external validation studies are needed to confirm the clinical significance of these miRNAs in the development of BPD. PMID:24301780

  6. Systemic Hydrocortisone To Prevent Bronchopulmonary Dysplasia in preterm infants (the SToP-BPD study); a multicenter randomized placebo controlled trial

    NARCIS (Netherlands)

    Onland, Wes; Offringa, Martin; Cools, Filip; De Jaegere, Anne P.; Rademaker, Karin; Blom, Henry; Cavatorta, Eric; Dijk, Peter H.; van Heijst, Arno F.; Kramer, Boris W.; Kroon, Andre A.; Mohns, Thilo; van Straaten, Henrica L.; te Pas, Arjan B.; Theyskens, Claire; van Weissenbruch, Mirjam M.; van Kaam, Anton H.; Beer de, A.

    2011-01-01

    Background: Randomized controlled trials have shown that treatment of chronically ventilated preterm infants after the first week of life with dexamethasone reduces the incidence of the combined outcome death or bronchopulmonary dysplasia (BPD). However, there are concerns that dexamethasone may inc

  7. N-Terminal Pro-B Type Natriuretic Peptide as a Marker of Bronchopulmonary Dysplasia or Death in Very Preterm Neonates

    DEFF Research Database (Denmark)

    Sellmer, Anna; Hjortdal, Vibeke Elisabeth; Bjerre, Jesper Vandborg;

    2015-01-01

    BACKGROUND: Bronchopulmonary dysplasia (BPD) is a serious complication of preterm birth. Plasma N-terminal pro-B type natriuretic peptide (NT-proBNP) has been suggested as a marker that may predict BPD within a few days after birth. OBJECTIVES: To investigate the association between NT-proBNP day...

  8. Inhalation or instillation of steroids for the prevention of bronchopulmonary dysplasia.

    Science.gov (United States)

    Bassler, Dirk

    2015-01-01

    Survival of extremely preterm infants has increased over recent years, but bronchopulmonary dysplasia (BPD) remains a major cause of morbidity. In the USA, BPD is the most common chronic respiratory disorder of infancy and affects the pulmonary and overall health of 10,000 preterm infants annually. Preclinical and clinical studies suggest a crucial role for lung inflammation and host immune response in the pathogenesis of BPD. Inflammation may result from, amongst others, chorioamnionitis, postnatal infection, ventilation, and the administration of oxygen. Infants with BPD have worse long-term outcomes than those without chronic lung disease. They are more than twice as likely to be readmitted to hospital in their first year of life and, having survived their primary hospitalizations, they are more likely to die than very preterm infants without chronic lung disease. Survivors with BPD have an increased risk of neurodevelopmental impairment and their respiratory function remains compromised well into adolescence. As the first generations of extremely low birth weight (ELBW) survivors have not yet reached retirement age, there are currently no reliable data addressing the association between BPD and pulmonary diseases of the elderly such as chronic obstructive pulmonary disease. Although BPD is quite common in ELBW infants, there are infants who do not develop BPD, which supports the argument that BPD is a preventable disease, emphasizing the need for high-quality safety and efficacy prevention studies. However, according to an Institute of Medicine statement regarding pediatric drug studies, the therapeutic area that has the fewest drugs indicated for neonates is BPD. As inflammation seems to be a primary mediator of injury in the pathogenesis of BPD, anti-inflammatory agents such as steroids have long been the focus of preventive research activities. However, systemic steroids, although reducing BPD, have frequently been linked to adverse neurodevelopmental

  9. [Assessing the impact of risk factors and polymorphisms GST genes on the development of bronchopulmonary dysplasia in premature infants].

    Science.gov (United States)

    2014-09-01

    An increasing incidence of bronchopulmonary dysplasia (BPD) in premature infants has been reported in recent years. In the present study we analyzed the risk factors for BPD. It was revealed that the most significant factors are the low gestational age and birth weight, as well as prolonged use of mechanical ventilation and late neonatal infection. Polymorphism of studied genes and various combinations of polymorphic variants did not affect the risk of BPD developing. The influence of genetic polymorphisms on the duration of mechanical ventilation, the occurrence of late neonatal infection. For proper evaluation of the contribution of genetic polymorphism is necessary to conduct a preliminary analysis of all possible clinical and laboratory parameters to identify strong independent predictors and then analyze the indirect effects of genetic factors. Further research and development of new approaches to ventilation mode in preterm infants, based on the genetic polymorphism, will create a set of preventive measures and reduce the incidence of BPD. PMID:25341249

  10. Irreversible Respiratory Failure in a Full-Term Infant with Features of Pulmonary Interstitial Glycogenosis as Well as Bronchopulmonary Dysplasia.

    Science.gov (United States)

    Jiskoot-Ermers, Maresa E C; Antonius, Tim A J; Looijen-Salamon, Monika G; Wijnen, Marc H W A; Loza, Bettina F; Heijst, Arno F J van

    2015-10-01

    Pulmonary interstitial glycogenosis (PIG) is a rare interstitial lung disease in the newborns. We report on the clinical presentation and pathological findings of a full-term male infant with pulmonary hypertension requiring extracorporeal membrane oxygenation (ECMO). An open lung biopsy demonstrated interstitial changes resembling pulmonary interstitial glycogenosis as well as bronchopulmonary dysplasia (BPD), without convincing evidence of maturational arrest, infection, alveolar proteinosis, or alveolar capillary dysplasia. The boy was treated with glucocorticoids and, after a few days, was weaned from ECMO. A few hours later, the patient died due to acute severe pulmonary hypertension with acute right ventricular failure. The etiology and underlying pathogenic mechanisms of PIG are unknown. The clinical outcomes are quite varied. Deaths have been reported when PIG exists with abnormal lung development and pulmonary vascular growth and congenital heart disease. No mortality has been reported in PIG together with BPD in full-term infants. In this article, we reported on a full-term infant with interstitial changes resembling PIG and BPD who expired despite no convincing evidence of an anatomical maturational arrest or congenital heart disease. PMID:26495172

  11. Irreversible Respiratory Failure in a Full-Term Infant with Features of Pulmonary Interstitial Glycogenosis as Well as Bronchopulmonary Dysplasia

    Directory of Open Access Journals (Sweden)

    Maresa E. C. Jiskoot-Ermers

    2015-10-01

    Full Text Available Pulmonary interstitial glycogenosis (PIG is a rare interstitial lung disease in the newborns. We report on the clinical presentation and pathological findings of a full-term male infant with pulmonary hypertension requiring extracorporeal membrane oxygenation (ECMO. An open lung biopsy demonstrated interstitial changes resembling pulmonary interstitial glycogenosis as well as bronchopulmonary dysplasia (BPD, without convincing evidence of maturational arrest, infection, alveolar proteinosis, or alveolar capillary dysplasia. The boy was treated with glucocorticoids and, after a few days, was weaned from ECMO. A few hours later, the patient died due to acute severe pulmonary hypertension with acute right ventricular failure. The etiology and underlying pathogenic mechanisms of PIG are unknown. The clinical outcomes are quite varied. Deaths have been reported when PIG exists with abnormal lung development and pulmonary vascular growth and congenital heart disease. No mortality has been reported in PIG together with BPD in full-term infants. In this article, we reported on a full-term infant with interstitial changes resembling PIG and BPD who expired despite no convincing evidence of an anatomical maturational arrest or congenital heart disease.

  12. Transfer of the Active Form of Transforming Growth Factor-β1 Gene to Newborn Rat Lung Induces Changes Consistent with Bronchopulmonary Dysplasia

    OpenAIRE

    Gauldie, Jack; Galt, Tom; Bonniaud, Philippe; Robbins, Clinton; Kelly, Margaret; Warburton, David

    2003-01-01

    Bronchopulmonary dysplasia is a chronic lung disease of premature human infancy that shows pathological features comprising varying sized areas of interstitial fibrosis in association with distorted large alveolar spaces. We have previously shown that transfer of active transforming growth factor (TGF)-β1 (AdTGFβ1223/225) genes by adenovirus vector to embryonic lungs results in inhibition of branching morphogenesis and primitive peripheral lung development, whereas transfer to adult lungs res...

  13. Development of Model of Stage Health Care System for Patients with Bronchopulmonary Dysplasia. Stage I: Determining the Need for Regional Centers for Diagnosis and Treatment

    OpenAIRE

    Shypko, A. F.

    2016-01-01

    Graphical and polynomial (quantitative) regional model of bronchopulmonary dysplasia (BPD) prevalence, depending on the number of premature children, was substantiated, composed and proposed for use for the first time. This provides an opportunity to perform generalized comparative (at the state level) analysis of BPD diagnosis. BPD incidence rates in groups of prematurely born children with different levels of BW deficiency (BW) were determined by calculating the ratio between the number of ...

  14. Determination of the Need and Assessment Algorithms of the Scope of Activity of Regional Centers for Diagnosis and Treatment of Bronchopulmonary Dysplasia

    OpenAIRE

    Shypko, A. F.

    2016-01-01

    Graphical and polynomial (quantitative) regional model of bronchopulmonary dysplasia (BPD) prevalence, depending on the number of premature children, was substantiated, composed and proposed for use for the first time. This provides an opportunity to perform generalized comparative (at the state level) analysis of BPD diagnosis. BPD incidence rates in groups of prematurely born children with different levels of BW deficiency (BW) were determined by calculating the ratio between the number of ...

  15. B-type natriuretic peptide is a biomarker for pulmonary hypertension in preterm infants with bronchopulmonary dysplasia

    Directory of Open Access Journals (Sweden)

    Cuna A

    2013-05-01

    Full Text Available Alain Cuna,1 Jegen Kandasamy,1 Naomi Fineberg,2 Brian Sims1 1Department of Pediatrics, Division of Neonatology, 2Department of Biostatistics, University of Alabama at Birmingham, Birmingham, AL, USA Background: B-type natriuretic peptide (BNP is a cardiac biomarker useful in screening for pulmonary hypertension (PH in adults. It is possible that BNP may also be useful in detecting PH among preterm infants with bronchopulmonary dysplasia (BPD. Objective: To determine the utility of BNP for identification of PH among preterm infants with BPD. Methods: We retrospectively identified preterm infants with BPD who underwent screening echocardiography for suspected PH and had serum BNP levels measured within 10 days before or after echocardiography. Eligible infants were classified based on echocardiographic diagnosis of either PH or no PH. Median and interquartile ranges (IQR of BNP values were compared, and area under the curve (AUC of receiver operator characteristic (ROC analysis was used to determine the optimum threshold value for detection of PH. Results: Twenty-five preterm infants with BPD (mean gestational age 26.5 ± 1.7 weeks, mean birth weight 747 ± 248 g were identified. The median difference in days between echocardiography and BNP measurement was 1 day (IQR 0–3, range 0–10 days. Based on echocardiography, 16 were diagnosed with PH and nine without PH. No significant difference in terms of gestational age, birth weight, sex, race, or respiratory support was found between the two groups. Median (IQR BNP values of those with PH were higher than those without PH (413 [212–1178] pg/mL versus 55 [21–84] pg/mL, P < 0.001. AUC of ROC analysis showed that a BNP value of 117 pg/mL had 93.8% sensitivity and 100% specificity for detecting PH. Conclusion: BNP estimation may be useful for screening of PH in infants with BPD. Keywords: B-type natriuretic peptide, pulmonary hypertension, bronchopulmonary dysplasia, biological markers

  16. mTOR信号通路与支气管肺发育不良%mTOR signaling pathway and bronchopulmonary dysplasia

    Institute of Scientific and Technical Information of China (English)

    邹冬梅(综述); 王少华(审校)

    2016-01-01

    mTOR信号通路是在进化上高度保守的细胞内信号通路,参与多条信号通路的传导,主要包括 PI3K/AKT/mTOR 通路、AKT/TSC1-TSC2/Rheb/mTOR 通路、LKB1-AMPK-TSC-mTOR 通路和 FGF-10-Spry2-mTORC1-STAT3/HIF-1α-VEGF-A通路。该信号通路从多个水平多个方面参与肺发育及肺部多种疾病的调控过程,可能与支气管肺发育不良( bronchopulmonary dysplasia,BPD)有关。 BPD是早产儿十分常见的一种慢性肺疾病( chronic lung disease,CLD),是各种理化因素对发育不成熟肺造成急性肺损伤及损伤后异常修复、肺纤维化的过程。该文总结了mTOR信号通路与肺发育、急性肺损伤及肺纤维化可能存在的关系,探索mTOR信号通路在BPD形成过程中的作用,以期为BPD的防治提供新的切入点。%mTOR signaling pathway is a highly conserved intracellular signaling pathway,which partici-pates in several signaling pathways, such as PI3K/AKT/mTOR, AKT/TSC1-TSC2/Rheb/mTOR, LKB1-AMPK-TSC-mTOR and FGF-10-Spry2-mTORC1-STAT3/HIF-1α-VEGF-A. mTOR signaling implicate in the regulation of the development of lung and many pulmonary diseases in many aspects,may be connected to bron-chopulmonary dysplasia. Bronchopulmonary dysplasia is one of the very common chronic lung diseases in pre-term,physical and chemical factors have been shown to induce acute lung injury, aberrant wound healing and lung fibrosis in the immature lung. This review summarizes relationship of mTOR signaling among lung develop-ment,acute lung injury and lung fibrosis,to explore the role of mTOR signaling in the development of bronchop-ulmonary dysplasia,in hope of providing novel method in the prevention and treatment of bronchopulmonary dysplasia.

  17. Medical closure of patent ductus arteriosus does not reduce mortality and development of bronchopulmonary dysplasia in preterm infants

    Directory of Open Access Journals (Sweden)

    Demet Terek

    2014-01-01

    Full Text Available Background: Although, patent ductus arteriosus (PDA is associated with significant morbidity due to hemodynamic instability in preterm infants, the effect of ductus closure on mortality and morbidity is a controversial issue. The aim is to evaluate the efficacy of oral and intravenous (IV ibuprofen treatment on ductal closure and effects on mortality and bronchoplumonary dysplasia. Materials and Methods: The medical records of 292 premature infants treated at Ege University Neonatal Intensive Care Unit were retrospectively evaluated. Patients were classified into 3 groups as; No PDA, hemodynamically insignificant PDA (hiPDA and hemodynamically significant PDA (hsPDA according to the presence and hemodynamical significance of PDA by echocardiography. hsPDA group was treated with IV or oral ibuprofen. Results: Patent ductus arteriosus was diagnosed by routine echocardiography in 145 patients, of whom 78 (53.7% had hsPDA. All 65 infants with hiPDA had spontaneous PDA closure. Echocardiographic measurements were similar to those patients treated with oral or IV ibuprofen, as in the response rate to treatment without serious adverse effects. The presence of respiratory distress syndrome, surfactant therapy, late sepsis, bronchopulmonary dysplasia (BPD and mortality rates were significantly higher in patients with hsPDA. However, with stepwise logistic regression; 5th min Apgar score (odds ratio [OR], 1.321, 95% confidence interval [CI], 1.063-1.641, P = 0.012 and gestational age (OR, 1.422, 95% CI, 1.212-1.662, P < 0.001 were the only significant variables associated with mortality. Gestational age (OR, 0.680, 95% CI, 0.531-0.871, P = 0.002 was the only significant variable associated with BPD shown with logistic regression. Conclusion: Ibuprofen treatment is effective for hsPDA closure with minimal side effects. HiPDA can close spontaneously; therefore treatment decision should be individualized. However, medical treatment of PDA does not reduce

  18. Association between Hemoglobin Levels in the First 3 Days of Life and Bronchopulmonary Dysplasia in Preterm Infants.

    Science.gov (United States)

    Duan, Jun; Kong, Xiangyong; Li, Qiuping; Hua, Shaodong; Zhang, Sheng; Feng, Zhichun; Zhang, Xiaoying

    2016-08-01

    Objective The objective of this study was to determine the association between hemoglobin (Hb) levels in the first 3 days of life and bronchopulmonary dysplasia (BPD) in preterm infants. Study Design The study population comprises 147 neonates with a gestational age (GA) of less than 32 weeks who were admitted to BaYi Children's Hospital Affiliated to Beijing Military General Hospital from January 2014 to May 2015. Hb levels in the first 3 days of life, maternal and infant characteristics, were recorded and then analyzed. Results BPD patients had a lower GA and birth weight than non-BPD patients. Rates of surfactant use, use of early inhalation hormone, days of mechanical ventilation > 2 weeks, and patent ductus arteriosus in BPD patients were higher and have a significant difference. Number of transfusions was higher in BPD patients. Lower Hb levels in the first 3 days of life were also observed in BPD patients. A cutoff value of Hb levels was determined as 155.5 g/L. Hb ≤ 155 g/L in the first 3 days of life was a significant risk factor for BPD. Conclusion Our study demonstrated that lower Hb levels in the first 3 days of life may increase the risk of developing BPD in preterm infants. PMID:27120476

  19. High incidence of rickets in extremely low birth weight infants with severe parenteral nutrition-associated cholestasis and bronchopulmonary dysplasia.

    Science.gov (United States)

    Lee, Soon Min; Namgung, Ran; Park, Min Soo; Eun, Ho Sun; Park, Kook In; Lee, Chul

    2012-12-01

    Risk factors for rickets of prematurity have not been re-examined since introduction of high mineral formula, particularly in ELBW infants. We analyzed the incidence and the risk factors of rickets in extremely low birth weight (ELBW) infants. As a retrospective case-control study from 2004 to 2008, risk factors were analyzed in 24 patients with rickets versus 31 patients without. The frequency of rickets in ELBW infants was 24/55 (44%). Infants with rickets were diagnosed at 48.2 ± 16.1 days of age, and improved by 85.3 ± 25.3 days. By radiologic evaluation, 29% were grade 1 rickets, 58% grade 2 and 13% grade 3. In univariate analysis, infants with rickets had significantly higher incidence of patent ductus arteriosus, parenteral nutrition associated cholestasis (PNAC), severe PNAC and moderate/severe bronchopulmonary dysplasia (BPD). In multiple regression analysis, after adjustment for gestation and birth weight, rickets significantly correlated with severe PNAC and with moderate/severe BPD. Serum peak alkaline phosphatase levels were significantly elevated in rickets (P rickets of prematurity remains high and the incidence of severe PNAC and moderate/severe BPD was significantly increased 18 and 3 times, respectively.

  20. A Comparison of KL-6 and Clara Cell Protein as Markers for Predicting Bronchopulmonary Dysplasia in Preterm Infants

    Directory of Open Access Journals (Sweden)

    Keyi Wang

    2014-01-01

    Full Text Available Objectives. To evaluate the predictive characteristics of KL-6 and CC16 for bronchopulmonary dysplasia (BPD in preterm infants, either independently or in combination. Study Design. This prospective cohort study was performed from 2011 to 2013 with preterm neonates of gestational age ≤32 weeks and birth weight ≤1500 g. Serum KL-6 and CC16 levels were determined 7 and 14 days after birth. Results. Seventy-three preterm infants were studied. BPD was identified in 24 of these infants. After adjusting for potential confounders, serum KL-6 concentrations were found to be elevated in BPD infants at both time points relative to non-BPD infants, while serum CC16 concentrations were lower at 14 days. At both 7 d and 14 d of life the predictive power of KL-6 levels exceeded that of CC16 (area under receiver operating characteristic curve: at 7 d, 0.91 cf. 0.73, P=0.02; at 14 d, 0.95 cf. 0.85, P=0.05. The combination of these markers enhanced the sensitivity further. Conclusions. Serum KL-6 levels higher than 79.26 ng/mL at 14 days postpartum in preterm infants predict the occurrence of BPD. CC16 was less predictive than KL-6 at this time point, but KL-6 and CC16 together enhanced the prediction.

  1. Bronchopulmonary dysplasia: clinical grading in relation to ventilation/perfusion mismatch measured by single photon emission computed tomography.

    Science.gov (United States)

    Kjellberg, Malin; Björkman, Karin; Rohdin, Malin; Sanchez-Crespo, Alejandro; Jonsson, Baldvin

    2013-12-01

    Bronchopulmonary dysplasia (BPD) is a significant cause of morbidity in the preterm population. Clinical severity grading based on the need for supplemental oxygen and/or need for positive airway pressure at 36 weeks postmenstrual age does not yield reproducible predictive values for later pulmonary morbidity. Single photon emission computed tomography (SPECT) was used to measure the distribution of lung ventilation (V) and perfusion (Q) in 30 BPD preterm infants at a median age of 37 weeks postmenstrual age. The V and Q were traced with 5 MBq Technegas and Technetium-labeled albumin macro aggregates, respectively, and the V/Q match-mismatch was used to quantify the extent of lung function impairment. The latter was then compared with the clinical severity grading at 36 weeks, and time spent on mechanical ventilation, continuous positive airway pressure (CPAP) and supplemental oxygen. Of those with mild and moderate BPD 3/9 and 3/11 patients, respectively, showed significant V/Q mismatches. By contrast, 4/10 patients with severe BPD showed a satisfactory V/Q matching distribution. An unsatisfactory V/Q match was not correlated with time spent on supplemental oxygen or CPAP, but was significantly negatively correlated with time spent on mechanical ventilation. SPECT provides unique additional information about regional lung function. The results suggest that the current clinical severity grading can be improved and/or complemented with SPECT. PMID:23359534

  2. Significant Differences in Markers of Oxidant Injury between Idiopathic and Bronchopulmonary-Dysplasia-Associated Pulmonary Hypertension in Children

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    Kimberly B. Vera

    2012-01-01

    Full Text Available While oxidant stress is elevated in adult forms of pulmonary hypertension (PH, levels of oxidant stress in pediatric PH are unknown. The objective of this study is to measure F2-isoprostanes, a marker of oxidant stress, in children with idiopathic pulmonary hypertension (IPH and PH due to bronchopulmonary dysplasia (BPD. We hypothesized that F2-isoprostanes in pediatric IPH and PH associated with BPD will be higher than in controls. Plasma F2-isoprostanes were measured in pediatric PH patients during clinically indicated cardiac catheterization and compared with controls. F2-Isoprostane levels were compared between IPH, PH due to BD, and controls. Five patients with IPH, 12 with PH due to BPD, and 20 control subjects were studied. Patients with IPH had statistically higher isoprostanes than controls 62 pg/mL (37–210 versus 20 pg/mL (16–27, <0.01. The patients with PH and BPD had significantly lower isoprostanes than controls 15 pg/mL (8–17 versus 20 pg/ml (16–27, <0.02. F2-isoprostanes are elevated in children with IPH compared to both controls and patients with PH secondary to BPD. Furthermore, F2-isoprostanes in PH secondary to BPD are lower than control levels. These findings suggest that IPH and PH secondary to BPD have distinct mechanisms of disease pathogenesis.

  3. Early respiratory management of respiratory distress syndrome in very preterm infants and bronchopulmonary dysplasia: a case-control study.

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    Arjan B Te Pas

    Full Text Available BACKGROUND: In the period immediately after birth, preterm infants are highly susceptible to lung injury. Early nasal continuous positive airway pressure (ENCPAP is an attempt to avoid intubation and may minimize lung injury. In contrast, ENCPAP can fail, and at that time surfactant rescue can be less effective. OBJECTIVE: To compare the pulmonary clinical course and outcome of very preterm infants (gestational age 25-32 weeks with respiratory distress syndrome (RDS who started with ENCPAP and failed (ECF group, with a control group of infants matched for gestational age, who were directly intubated in the delivery room (DRI group. Primary outcome consisted of death during admission or bronchopulmonary dysplasia (BPD. RESULTS: 25 infants were included in the ECF group and 50 control infants matched for gestational age were included in the DRI group. Mean gestational age and birth weight in the ECF group were 29.7 weeks and 1,393 g and in the DRI group 29.1 weeks and 1,261 g (p = NS. The incidence of BPD was significantly lower in the ECF group than in the DRI group (4% vs. 35%; P<0.004; OR 12.6 (95% CI 1.6-101. Neonatal mortality was similar in both groups (4%. The incidence of neonatal morbidities such as severe cerebral injury, patent ductus arteriosus, necrotizing enterocolitis and retinopathy of prematurity, was not significantly different between the two groups. CONCLUSION: A trial of ENCPAP at birth may reduce the incidence of BPD and does not seem to be detrimental in very preterm infants. Randomized controlled trials are needed to test whether early respiratory management of preterm infants with RDS plays an important role in the development of BPD.

  4. Human umbilical cord blood mononuclear cells in a double-hit model of bronchopulmonary dysplasia in neonatal mice.

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    Dominik Monz

    Full Text Available BACKGROUND: Bronchopulmonary dysplasia (BPD presents a major threat of very preterm birth and treatment options are still limited. Stem cells from different sources have been used successfully in experimental BPD, induced by postnatal hyperoxia. OBJECTIVES: We investigated the effect of umbilical cord blood mononuclear cells (MNCs in a new double-hit mouse model of BPD. METHODS: For the double-hit, date mated mice were subjected to hypoxia and thereafter the offspring was exposed to hyperoxia. Human umbilical cord blood MNCs were given intraperitoneally by day P7. As outcome variables were defined: physical development (auxology, lung structure (histomorphometry, expression of markers for lung maturation and inflammation on mRNA and protein level. Pre- and postnatal normoxic pups and sham treated double-hit pups served as control groups. RESULTS: Compared to normoxic controls, sham treated double-hit animals showed impaired physical and lung development with reduced alveolarization and increased thickness of septa. Electron microscopy revealed reduced volume density of lamellar bodies. Pulmonary expression of mRNA for surfactant proteins B and C, Mtor and Crabp1 was reduced. Expression of Igf1 was increased. Treatment with umbilical cord blood MNCs normalized thickness of septa and mRNA expression of Mtor to levels of normoxic controls. Tgfb3 mRNA expression and pro-inflammatory IL-1β protein concentration were decreased. CONCLUSION: The results of our study demonstrate the therapeutic potential of umbilical cord blood MNCs in a new double-hit model of BPD in newborn mice. We found improved lung structure and effects on molecular level. Further studies are needed to address the role of systemic administration of MNCs in experimental BPD.

  5. A breath of fresh air on the mesenchyme: Impact of impaired mesenchymal development on the pathogenesis of Bronchopulmonary Dysplasia

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    Cho-Ming eChao

    2015-04-01

    Full Text Available The early mouse embryonic lung, with its robust and apparently reproducible branching pattern, has always fascinated developmental biologists. They have extensively used this embryonic organ to decipher the role of mammalian orthologues of Drosophila genes in controlling the process of branching morphogenesis. During the early pseudoglandular stage, the embryonic lung is formed mostly of tubes that keep on branching. As the branching takes place, progenitor cells located in niches are also amplified and progressively differentiate along the proximo-distal and dorso-ventral axes of the lung. Such elaborate processes require coordinated interactions between signaling molecules arising from and acting on four functional domains: the epithelium, the endothelium, the mesenchyme and the mesothelium. These interactions, quite well characterized in a relatively simple lung tubular structure remain elusive in the successive developmental and postnatal phases of lung development. In particular, a better understanding of the process underlying the formation of secondary septa, key structural units characteristic of the alveologenesis phase, is still missing. This structure is critical for the formation of a mature lung as it allows the subdivision of saccules in the early neonatal lung into alveoli, thereby considerably expanding the respiratory surface. Interruption of alveologenesis in preterm neonates underlies the pathogenesis of chronic neonatal lung disease known as Bronchopulmonary Dysplasia or BPD. De novo formation of secondary septae appears also to be the limiting factor for lung regeneration in human patients with emphysema. In this review, we will therefore focus on what is known in terms of interactions between the different lung compartments and discuss the current understanding of mesenchymal cell lineage formation in the lung, focusing on secondary septa formation.

  6. 支气管肺发育不良的研究进展%Study Progress in Bronchopulmonary Dysplasia

    Institute of Scientific and Technical Information of China (English)

    孔令凯; 章晟; 封志纯

    2012-01-01

    Bronchopulmonary dysplasia (BPD) remains the most common severe complication of preterm birth. The introduction of prenatal steroid use,pulmonary surfactant treatment and improved ventilator strategies have resulted in great changes from the old BPD,but the incidence of new BPD is increased than before. The new BPD is based on an impairment of lung maturation with prenatal and postnatal multi - hit insults and genetic susceptibility. The multi - hit initiates a cascade of pro - and anti - inflammatory mediators that affect the very immature lung and subsequently vascularization disorders with lung tissue repaired abnormally. There are no satisfied treatment strategy recently. New cure strategy such as adequate oxygenation, permissive hypercapnia, early use of noninvasive mechanical ventilation, INtubation SURfactant Extwbation(INSURE) approach,caffeine,corticosteroids and pulmonary surfactant are beneficial to BPD,and also need more research.%支气管肺发育不良( BPD)是早产儿最常见的严重呼吸系统疾病.随着产前糖皮质激素的应用、呼吸支持的改善、肺表面活性物质(Ps)的应用,经典型BPD发病率有所降低,新型BPD发生率有所增多,其发病机制主要是在基因易感性的基础上,宫内和出生后的多重打击引起促炎、抗炎因子的级联反应,对发育不成熟的肺引起损伤,以及损伤后血管化失调和肺组织异常修复.在治疗上无满意的治疗策略,目前常采用的方法包括保持适当的血氧含量,允许性高碳酸血症,早期使用无创呼吸支持,使用气管内插管-1S使用-尽早拔管改用无创呼吸支持模式,常用药物为咖啡因、类固醇、外源性PS等,但具体效果仍存在争议.

  7. Azithromycin in the extremely low birth weight infant for the prevention of Bronchopulmonary Dysplasia: a pilot study

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    Anstead Michael I

    2007-06-01

    Full Text Available Abstract Background Azithromycin reduces the severity of illness in patients with inflammatory lung disease such as cystic fibrosis and diffuse panbronchiolitis. Bronchopulmonary dysplasia (BPD is a pulmonary disorder which causes significant morbidity and mortality in premature infants. BPD is pathologically characterized by inflammation, fibrosis and impaired alveolar development. The purpose of this study was to obtain pilot data on the effectiveness and safety of prophylactic azithromycin in reducing the incidence and severity of BPD in an extremely low birth weight (≤ 1000 grams population. Methods Infants ≤ 1000 g birth weight admitted to the University of Kentucky Neonatal Intensive Care Unit (level III, regional referral center from 9/1/02-6/30/03 were eligible for this pilot study. The pilot study was double-blinded, randomized, and placebo-controlled. Infants were randomized to treatment or placebo within 12 hours of beginning mechanical ventilation (IMV and within 72 hours of birth. The treatment group received azithromycin 10 mg/kg/day for 7 days followed by 5 mg/kg/day for the duration of the study. Azithromycin or placebo was continued until the infant no longer required IMV or supplemental oxygen, to a maximum of 6 weeks. Primary endpoints were incidence of BPD as defined by oxygen requirement at 36 weeks gestation, post-natal steroid use, days of IMV, and mortality. Data was analyzed by intention to treat using Chi-square and ANOVA. Results A total of 43 extremely premature infants were enrolled in this pilot study. Mean gestational age and birth weight were similar between groups. Mortality, incidence of BPD, days of IMV, and other morbidities were not significantly different between groups. Post-natal steroid use was significantly less in the treatment group [31% (6/19] vs. placebo group [62% (10/16] (p = 0.05. Duration of mechanical ventilation was significantly less in treatment survivors, with a median of 13 days (1–47

  8. Living with Bronchopulmonary Dysplasia

    Science.gov (United States)

    ... Topics Oxygen Therapy Pulmonary Hypertension Respiratory Distress Syndrome Tracheostomy Ventilator/Ventilator Support Send a link to NHLBI ... need long-term ventilator support may need a tracheostomy . A tracheostomy is a surgically made hole in ...

  9. Tempo de ventilação mecânica e desenvolvimento de displasia broncopulmonar Duration of mechanical ventilation and development of bronchopulmonary dysplasia

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    Ana Damaris Gonzaga

    2007-02-01

    Full Text Available OBJETIVO: Verificar a associação entre o tempo de uso da ventilação mecânica e o desenvolvimento de displasia broncopulmonar em recém-nascidos com peso de nascimento 15 dias. Foi calculada a razão de chance para o desenvolvimento de displasia broncopulmonar em cada período de utilização da ventilação mecânica. RESULTADOS: Dos 216 prontuários avaliados, 121 preencheram os critérios de inclusão. As médias do peso de nascimento e idade gestacional foram de 1199,8 g e 31,8 semanas. No período de 1 a 7 dias de uso da ventilação mecânica, 15,5% dos recém-nascidos evoluíram com displasia broncopulmonar; no período de 8 a 14 dias, 60%; e no período > 15 dias, 88,2%; com razão de chance de 0,16, 11,25 e 16,36, respectivamente. CONCLUSÃO: A possibilidade de um recém-nascido com peso de nascimento OBJECTIVE: Verify the association between duration of mechanical ventilation and development of bronchopulmonary dysplasia in neonates weighting at birth less than 1500g. METHODS: Retrospective study conducted with neonates weighting less than 1500g at birth submitted to mechanical ventilation. Neonates presenting major birth defects, transferred to other services or died before the 28th day of life were excluded from the study. Three groups were analyzed according to duration of mechanical ventilation: 1 to 7 days, 8 to 14 days and more than 15 days. The chance ratio of developing bronchopulmonary dysplasia was calculated for each group. RESULTS: From the 216 clinical histories assessed, 121 met the criteria for inclusion in the study. Mean birth weight and gestational age were 1199.8 g and 31.8 weeks. Of all neonates submitted to mechanical ventilation from 1 to 7 days, 15.5% developed bronchopulmonary dysplasia; from 8 to 14 days 60% and from more than 15 days, 88.2%; chance ratios were equal to 0.16; 11.25 and 16.36, respectively. CONCLUSION: The chance of a neonate weighting less than 1500 g developing bronchopulmonary dysplasia

  10. Ruptura prematura das membranas amnióticas no pré-termo: fatores associados à displasia broncopulmonar Preterm premature rupture of the fetal membranes: factors associated with bronchopulmonary dysplasia

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    Danieli Dias Gonçalves

    2010-10-01

    Full Text Available OBJETIVO: identificar os fatores obstétricos e neonatais associados ao desfecho de displasia broncopulmonar em pacientes com amniorrexe prematura no pré-termo. MÉTODOS: foram analisados 213 prontuários do Instituto Fernandes Figueira, entre 1998 e 2002, cujas pacientes evoluíram com quadro de amniorrexe prematura 10 dias (OR: 54,00 [11,55-278,25] p=0,000; idade gestacional 10 dias (p=0,001 e "uso de surfactante" (p=0,040 permaneceram independentemente associadas ao desfecho. CONCLUSÕES: observou-se que os fatores associados à displasia broncopulmonar são de natureza neonatal, sendo que a ventilação mecânica duradoura e o uso de surfactante neonatal influenciaram no desenvolvimento dessa doença.PURPOSE: to analyze obstetric and neonatal factors associated with bronchopulmonary dysplasia outcome in patients with preterm premature amniorrhexis. METHODS: we analyzed 213 medical records of patients of Fernandes Figueira Institute who suffered premature amniorrhexis (10 days (p=0.001 and "use of a surfactant" (p=0.040 remained independently associated with bronchopulmonary dysplasia. CONCLUSIONS: the factors associated with bronchopulmonary dysplasia are related to neonatal features, asprolonged mechanical ventilation and the use of a surfactant influencethe development of thedisease.

  11. 支气管肺发育不良神经系统预后的研究进展%Research Advances in Neurological Outcomes of Bronchopulmonary Dysplasia

    Institute of Scientific and Technical Information of China (English)

    张山丹

    2012-01-01

    As more infants of very low birth weight (VLBW) survive, more survivors will suffer of bronchopulmonary dysplasia (BPD). Through childhood and into early life those would normally be expected, children with BPD have higher rates of cognitive , educational and behavioural impairments , and also reduced lung function . The important affection of children with BPD neurological and respiratory problems later into adult life needs to be determined . This article focuses on discussing of the support for the neurological outcomes of BPD , so as to perfect the understanding of it .%随着极低出生体重(infants of very low birth weight,VLBW)儿存活率的升高,支气管肺发育不良(BPD)发生率也随之增高.对BPD患儿于儿童期和成年早期的神经系统预后研究发现,其出现认知、教育和行为障碍及肺功能降低几率方面较预期高.作者就目前BPD神经系统预后的研究进展,进行综述如下.

  12. Expression of transforming growth factor-β1 in neonatal rats with hyperoxia-induced bronchopulmonary dysplasia and its relationship with lung development.

    Science.gov (United States)

    Yan, B; Zhong, W; He, Q M; Zhang, S Y; Yu, J K; Pan, Y L

    2016-01-01

    The aim of this study was to detect the expression of transforming growth factor-ß1 (TGF-ß1) in neonatal rats with hyperoxia-induced bronchopulmonary dysplasia (BPD) and to explore its relationship with lung development. Forty-eight rats (2-3 days old) were randomly divided into a hyperoxia group and a control group (N = 24) which were then fed in ≥95% oxygen atmosphere and air, respectively. On the 1st, 3rd and 7th days of hyperoxia exposure, morphological changes of lung tissues were observed under an optical microscope. TGF-ß1 mRNA and protein levels in lung tissues were detected by real-time quantitative polymerase chain reaction and western blot, respectively. With increasing time of hyperoxia exposure, the hyperoxia group gradually suffered from pathological changes such as poor development of lung tissues, alveolar simplification, decrease in the number of alveoli, and hindered pulmonary microvascular development. On the 7th day of hyperoxia exposure, TGF-ß1 mRNA and protein levels (relative to b-actin) of the hyperoxia group (0.34 ± 0.19 and 0.21 ± 0.09, respectively) were significantly lower than those of the control group (0.83 ± 0.45 and 0.57 ± 0.45, respectively; P < 0.05). TGF-ß1 participates in the pathogenesis of BPD as an important regulatory factor during pulmonary vascular development. PMID:27173325

  13. Development of left ventricular longitudinal speckle tracking echocardiography in very low birth weight infants with and without bronchopulmonary dysplasia during the neonatal period.

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    Christoph Czernik

    Full Text Available OBJECTIVES: In preterm infants, postnatal myocardial adaptation may be complicated by bronchopulmonary dysplasia (BPD. We aimed to describe the development of left ventricular function by serial 2D, Doppler, and speckle tracking echocardiography (2D-STE in infants with and without BPD during the neonatal period and compare these to anthropometric and conventional hemodynamic parameters. STUDY DESIGN: Prospective echocardiography on day of life (DOL 1, 7, 14, and 28 in 119 preterm infants 10% were seen for the apical segment. While anthropometric parameters show rapid development during the first 4 weeks of life, the speckle tracking parameters did not differ statistically significantly during the neonatal period. Infants with and without BPD differed significantly (p<0.001 in the development of anthropometric parameters, conventional hemodynamic parameters except for heart rate, and 2D-STE parameters: global longitudinal systolic strain rate (GLSSR and longitudinal systolic strain for the mid left wall (LSSR. The largest differences were seen at DOL 1 and 7 in GLSSR (p<0.001 and in LSSR (p<0.01. CONCLUSIONS: Reproducible 2D-STE measurements are possible in preterm infants <1500 g. Cardiac deformation reveals early (DOL 1 and 7 ventricular changes (GLSSR and LSSR in very low birth weight infants who develop BPD.

  14. Complacência pulmonar com uma hora de vida e displasia broncopulmonar em recém-nascidos prematuros Early dynamic pulmonary compliance and bronchopulmonary dysplasia in preterm newborn infants

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    Lídia Mayrink de Barros

    2007-12-01

    Full Text Available OBJETIVOS: avaliar se a complacência pulmonar precoce é fator preditor da presença de displasia broncopulmonar aos 28 dias de vida, em prematuros. MÉTODO: coorte prospectiva de neonatos com idade gestacional OBJECTIVES: to evaluate whether early pulmonary compliance could be a predictor of the presence of bronchopulmonary dysplasia at 28 days of life in preterm infants. METHODS: a cohort study was carried out involving neonates with gestational age <32 weeks and a birth weight of 500-1250 g receiving prophylactic surfactant at 30 minutes of life. The lung mechanics was evaluated using a pneumotachograph connected to the ventilator circuit 60 minutes after birth. Flow signals and volume were measured using WinTracer® in order to determine the dynamic pulmonary compliance and the airway resistance. Variables associated with the need for oxygen or assisted ventilation at 28 days were assessed using logistic regression. RESULTS: 32 neonates were enrolled in the study and 25 survived until the 28th day, at which point 17 (68% needed assisted ventilation and/or oxygen (Group 1, and 8 did not (Group 2. The Group 1 infants were younger, had higher clinical risk index scores and frequency of patent ductus arteriosus. The lung mechanics in the 1st hour of life was similar in Groups 1 and 2. Regression analysis showed that bronchopulmonary dysplasia was associated with the presence of patent ductus arteriosus and lower gestational age. CONCLUSIONS: pulmonary compliance figures in the 1st hour of life did not predict the presence of bronchopulmonary dysplasia in the 28th day of life of the studied population.

  15. Azithromycin to prevent bronchopulmonary dysplasia in ureaplasma-infected preterm infants: pharmacokinetics, safety, microbial response, and clinical outcomes with a 20-milligram-per-kilogram single intravenous dose.

    Science.gov (United States)

    Viscardi, Rose M; Othman, Ahmed A; Hassan, Hazem E; Eddington, Natalie D; Abebe, Elias; Terrin, Michael L; Kaufman, David A; Waites, Ken B

    2013-05-01

    Ureaplasma respiratory tract colonization is associated with bronchopulmonary dysplasia (BPD) in preterm infants. Previously, we demonstrated that a single intravenous (i.v.) dose of azithromycin (10 mg/kg of body weight) is safe but inadequate to eradicate Ureaplasma spp. in preterm infants. We performed a nonrandomized, single-arm open-label study of the pharmacokinetics (PK) and safety of intravenous 20-mg/kg single-dose azithromycin in 13 mechanically ventilated neonates with a gestational age between 24 weeks 0 days and 28 weeks 6 days. Pharmacokinetic data from 25 neonates (12 dosed with 10 mg/kg i.v. and 13 dosed with 20 mg/kg i.v.) were analyzed using a population modeling approach. Using a two-compartment model with allometric scaling of parameters on body weight (WT), the population PK parameter estimates were as follows: clearance, 0.21 liter/h × WT(kg)(0.75) [WT(kg)(0.75) indicates that clearance was allometrically scaled on body weight (in kilograms) with a fixed exponent of 0.75]; intercompartmental clearance, 2.1 liters/h × WT(kg)(0.75); central volume of distribution (V), 1.97 liters × WT (kg); and peripheral V, 17.9 liters × WT (kg). There was no evidence of departure from dose proportionality in azithromycin exposure over the tested dose range. The calculated area under the concentration-time curve over 24 h in the steady state divided by the MIC90 (AUC24/MIC90) for the single dose of azithromycin (20 mg/kg) was 7.5 h. Simulations suggest that 20 mg/kg for 3 days will maintain azithromycin concentrations of >MIC50 of 1 μg/ml for this group of Ureaplasma isolates for ≥ 96 h after the first dose. Azithromycin was well tolerated with no drug-related adverse events. One of seven (14%) Ureaplasma-positive subjects and three of six (50%) Ureaplasma-negative subjects developed physiologic BPD. Ureaplasma was eradicated in all treated Ureaplasma-positive subjects. Simulations suggest that a multiple-dose regimen may be efficacious for microbial

  16. Advances in stem cell treatment for bronchopulmonary dysplasia%干细胞治疗支气管肺发育不良新进展

    Institute of Scientific and Technical Information of China (English)

    孙雨辰

    2015-01-01

    Bronchopulmonary dysplasia(BPD) is a chronic lung disease of prematurity mainly affecting preterm infants with low birth weights, especially those treated with mechanical ventilation and oxygen therapy.There is no specific treatment for BPD until now.Administration of mesenchymal stem cells seems to be an promising novel treatment.Mesenchymal stem cell(MSC) can attenuate lung injury in an amount of animal experiments.But the mechanism is unclear yet.The best dose, timing and the application route of transplantation as the standard treatment strategy is still unresolved.The phase Ⅰ clinical trail shows short-term safety and efficacy of MSC administration.Phase Ⅱ trails and long-term safety studies are under way.This review focuses on the recent achievement in treating BPD with MSC transplantation.%支气管肺发育不良属于新生儿慢性肺部疾病,主要发生在低出生体重早产儿,尤其是接受机械通气及氧疗的患儿.该病目前尚无特效治疗方法.间充质干细胞移植治疗是较有前景的新疗法.大量动物实验研究显示间充质干细胞对肺部损伤有修复效果,但其机制尚不明确.随着干细胞移植治疗逐渐应用于临床,如何规范治疗的问题亟待解决,如干细胞治疗的注入细胞数量、治疗的最佳注入途径和时机等.间充质干细胞移植Ⅰ期临床试验展现出较好的安全性和治疗效果,Ⅱ期临床试验和远期安全性研究已经开展.该文就干细胞治疗支气管肺发育不良的最新进展进行综述.

  17. Prenatal administration of the cytochrome P4501A inducer, Β-naphthoflavone (BNF), attenuates hyperoxic lung injury in newborn mice: Implications for bronchopulmonary dysplasia (BPD) in premature infants

    International Nuclear Information System (INIS)

    Supplemental oxygen contributes to the development of bronchopulmonary dysplasia (BPD) in premature infants. In this investigation, we tested the hypothesis that prenatal treatment of pregnant mice (C57BL/6J) with the cytochrome P450 (CYP)1A1 inducer, ss-napthoflavone (BNF), will lead to attenuation of lung injury in newborns (delivered from these dams) exposed to hyperoxia by mechanisms entailing transplacental induction of hepatic and pulmonary CYP1A enzymes. Pregnant mice were administered the vehicle corn oil (CO) or BNF (40 mg/kg), i.p., once daily for 3 days on gestational days (17-19), and newborns delivered from the mothers were either maintained in room air or exposed to hyperoxia (> 95% O2) for 1-5 days. After 3-5 days of hyperoxia, the lungs of CO-treated mice showed neutrophil infiltration, pulmonary edema, and perivascular inflammation. On the other hand, BNF-pretreated neonatal mice showed decreased susceptibility to hyperoxic lung injury. These mice displayed marked induction of ethoxyresorufin O-deethylase (EROD) (CYP1A1) and methoxyresorufin O-demethylase (MROD) (CYP1A2) activities, and levels of the corresponding apoproteins and mRNA levels until PND 3 in liver, while CYP1A1 expression alone was augmented in the lung. Prenatal BNF did not significantly alter gene expression of pulmonary NAD(P)H quinone reductase (NQO1). Hyperoxia for 24-72 h resulted in increased pulmonary levels of the F2-isoprostane 8-iso-PGF2α, whose levels were decreased in mice prenatally exposed to BNF. In conclusion, our results suggest that prenatal BNF protects newborns against hyperoxic lung injury, presumably by detoxification of lipid hydroperoxides by CYP1A enzymes, a phenomenon that has implications for prevention of BPD in infants. - Highlights: → Supplemental oxygen is routinely administered to premature infants. → Hyperoxia causes lung injury in experimental animals. → Prenatal treatment of mice with beta-naphthoflavone attenuates oxygen injury

  18. How Is Bronchopulmonary Dysplasia Treated?

    Science.gov (United States)

    ... Topics Oxygen Therapy Pulmonary Hypertension Respiratory Distress Syndrome Tracheostomy Ventilator/Ventilator Support Send a link to NHLBI ... support, he or she will likely get a tracheostomy (TRA-ke-OS-toe-me). A tracheostomy is ...

  19. Influência de fatores maternos e neonatais no desenvolvimento da displasia broncopulmonar Influence of maternal and neonatal factors on bronchopulmonary dysplasia development

    Directory of Open Access Journals (Sweden)

    Marcela Raquel de Oliveira Lima

    2011-08-01

    Full Text Available OBJETIVO: Analisar as características epidemiológicas da displasia broncopulmonar (DBP e suas relações com condições maternas e neonatais em uma unidade neonatal. MÉTODOS: Estudo transversal, descritivo e analítico, sendo os dados coletados através da análise de prontuários envolvendo recém-nascidos (RNs pré-termo com peso ao nascimento inferior a 1.500 g e idade gestacional abaixo de 37 semanas internados em uma unidade neonatal. RESULTADOS: Foram estudados 323 recém-nascidos com média do peso ao nascimento de 1.161 g (± 231 g, idade gestacional entre 24 e 36,5 semanas com incidência da DBP de 17,6%. Entre os RNs que desenvolveram DBP, a média de dias de uso de assistência ventilatória mecânica invasiva (AVMI, ventilação não invasiva (VNI e oxigênio foi, respectivamente, 17,6 dias, 16,2 dias e 46,1 dias, sendo significativamente maior naqueles RNs que desenvolveram a DBP (p < 0,001. A ocorrência da DBP foi significativamente maior nos RNs com diagnóstico de persistência do canal arterial (PCA. CONCLUSÃO: A incidência da DBP neste estudo foi semelhante à encontrada na literatura mundial. Não houve associação entre a presença de infecção materna e o uso de corticoide antenatal com a DBP. Os RNs que fizeram uso de surfactante tiveram maior incidência da DBP porque tinham menor PN e menor IG. A ocorrência da PCA e DBP simultaneamente está associada ao maior tempo de uso de AVMI, VNI e oxigênioOBJECTIVE: To review epidemiological features of bronchopulmonary dysplasia (BPD and its relationship with maternal and neonatal conditions in a neonatal unit. METHODS: Cross-sectional, descriptive and analytical study involving preterm newborns (NBs with a birth weight lower than 1,500 g and gestational age under 37 weeks. Data was collected through a review of medical records of these newborns admitted to a neonatal unit. RESULTS: The study included 323 newborns with a mean birth weight of 1,161 g (± 231 g

  20. 早产儿支气管肺发育不良的高危因素及防治对策%Risk factors and prevention countermeasures in preterm infants with bronchopulmonary dysplasia

    Institute of Scientific and Technical Information of China (English)

    彭磊; 乐功芳; 陈绪萍; 龚益明

    2015-01-01

    目的:研究早产儿支气管肺发育不良的高危因素及防治对策。方法统计2010年1月~2013年12月在我院妇产科出生的早产儿498例的胎龄,出生体重,机械通气参数,是否发生宫内感染,产前或产后是否使用肺泡表面活性物质、肾上腺皮质激素等药物,是否输血,是否发生败血症、动脉导管未关闭以及肺透明膜病等合并症,分析上述指标与早产儿支气管肺发育不良之间的关系。结果早产儿支气管肺发育不良发生率为7.23%。低胎龄、低出生体重、宫内感染、吸入氧气浓度>40%、机械通气吸气峰压>20 cmH2 O、机械通气潮气量>6 ml/kg、应用呼吸机>3 d、胎龄≤32周且未用使用肾上腺皮质激素及肺泡表面活性物质、输血、未早期喂养、合并症、胎膜早破等为早产儿支气管肺发育不良的高危因素。结论预防感染与早产,使用肾上腺皮质激素及肺泡表面活性物质,早期喂养,于低吸气峰压、低潮气量以及低浓度氧气的前提下机械通气,尽量降低输血量及液体入量,降低并发症发生率等是防治早产儿支气管肺发育不良的对策。%Objective To analyze the risk factors and prevention countermeasures in preterm infants with bronchopulmonary dysplasia. Methods The related paraments of 498 premature infants were statistically collected, including gestational age, birth weight, mechanical ventilation, intrauterine infection, using pulmonary surfactant prenatally or postnatally, adrenal cortical hormone drugs, blood transfusion, sepsis, closure of artery catheter and hy-aline membrane disease and other comorbidities. The relationship between the indexes and preterm infants with bron-chopulmonary dysplasia was analyzed. Results The incidence of preterm infants with bronchopulmonary dysplasia was 7. 23%. The high risk factors included low gestational age, low birth weight, intrauterine infection, the inhala-tion of

  1. 支气管肺发育不良与遗传因素的相关分析%Analysis on Association of Genetic Factors and Bronchopulmonary Dysplasia

    Institute of Scientific and Technical Information of China (English)

    潘睿; 常立文; 李文斌; 曾凌空; 张佳; 周玉容; 容志惠

    2012-01-01

    目的 探讨肺表面蛋白A(SPA)和肺表面蛋白B(SPB)基因多态性与支气管肺发育不良(BPD)的相关性.方法 运用PCR-限制性片段长度多态性(RFLP)和基因测序方法检测BPD组(51例)和对照组(103例)新生儿的SPA1AA50G/C、SPA1AA219C/T、SPB - 18A/C 、SPB1580C/T基因型频率和等位基因频率.结合临床参数,运用x2检验、Fisher’s精确概率法及多因素Logistic回归分析统计学方法分析与BPD发病有关的危险因素.结果 SPA1AA219C/T和SPB1580C/T等位基因和基因型频率在BPD组和对照组中比较差异无统计学意义,而SPA1AA50等位基因G、基因型GG和GC及SPB - 18等位基因A、基因型AA和AC分布频率在BPD组中明显高于对照组,差异均有统计学意义(Pa<0.05).临床参数中,BPD组出生体质量、胎龄、经鼻持续正压通气(CPAP)、机械通气、出生后应用地塞米松、颅内出血和PDA与对照组比较差异均有统计学意义(Pa<0.05).多因素Logistic回归分析显示,BPD与CPAP、出生后应用地塞米松、颅内出血、SPA1AA50基因型GG和GC及SPB -18基因型AA、AC无关,而与机械通气和PDA呈正相关,与出生体质量、胎龄呈负相关.结论 SPA1AA50G/C、SPB - 18A/C不是BPD发病的遗传易感基因.机械通气和PDA是BPD的高危因素,出生体质量和胎龄是其保护因素.%Objective To explore the association between bronchopulmonary dysplasia (BPD) and polymorphisms of genes coding for surfactant protein A (SPA) and surfactant protein B (SPB). Methods A sample of 154 newboms including BPD group (51 cases) and control group ( 103 cases) were evaluated. Polymorphisms of SPA, AA50G/C,SPA, AA219C/T.SPB - 18A/C and SPB1580C/T were assessed using polymerase chain reaction - restriction fragment length polymorphism( PCR - RFIP) and gene sequencing. The x2 test,Fisher's exact test and multivariate Logistic regression analysis were performed by all factors. Results The frequency of polymorphisms of SPA, AA219C

  2. Avaliação tomográfica pulmonar tardia em prematuros com displasia broncopulmonar e persistência de canal arterial Late pulmonary tomography assessment in premature infants with bronchopulmonary dysplasia submitted to patent ductus arteriosus managemnent

    Directory of Open Access Journals (Sweden)

    Lilian Beani

    2007-12-01

    Full Text Available OBJETIVO: Avaliação tomográfica do parênquima pulmonar de crianças nascidas prematuras de muito baixo peso, com persistência do canal arterial submetidas a tratamento clínico ou cirúrgico e que apresentaram displasia broncopulmonar. MÉTODOS: Entre dezembro de 2006 e janeiro de 2007, 14 crianças foram submetidas à tomografia computadorizada de alta resolução (TCAR, que nasceram prematuras, peso inferior a 1500 gramas, com displasia broncopulmonar (DBP e persistência do canal arterial (PCA, os quais necessitaram tratamento para oclusão do canal, sendo divididos em dois grupos: A - clínico (n = 6 e B - cirúrgico (n = 8. Nove pacientes eram do sexo masculino e cinco, do feminino, com idade média de 36,5±4,3 meses. As TCAR foram analisadas por dois observadores independentes e as lesões quantificadas em cada paciente. Para análises estatísticas, foi utilizado o teste de Mann-Whitney e considerados significantes valores de pOBJECTIVE: To assess through high-resolution computed tomography the pulmonary parenchyma of children prematurely born with both very low birth weight and patent ductus arteriosus submitted to medical or surgical treatment that developed bronchopulmonary dysplasia. METHODS: Between December 2006 and January 2007, 14 children prematurely born with a weight less than 1500g with bronchopulmonary dysplasia (BPD and patent ductus arteriosus (PDA were submitted to high-resolution computed tomography (HRCT. All of them underwent surgical closure of the canal divided into two groups: A - medical (n=6 and B - surgical (n=8. The pool of patients comprised 9 baby boys and 5 girls who were 36.5±4.3 month-old. The HRCT were analyzed by two independent observers and quantified in each patient. The statistical analyses were assessed using the Mann-Whitney test, and p<0.05 was considered statistically significant. RESULTS: Three patients presented normal tomographies, being two of A group and one of B. In A, the most

  3. High Risk Factor and Preventive Treatment Countermeasures of Premature with Bronchopulmonary Dysplasia%早产儿支气管肺发育不良高危因素及防治对策

    Institute of Scientific and Technical Information of China (English)

    李彦夫

    2012-01-01

    Objective:To explored the high risk factor and preventive treatment countermeasures of premature with bronchopulmonary dysplasia.Methods:Retrospectived analyses the data of 110 premature cases in the department of paediatrics from October 2005 to November 2010.The cases: gestational age were less than or equal to 32 weeks,birth weight were less than or equal to 1500 grams,survival time greater than 28 days.75 cases need the treatment of mechanical ventilation.In the 75cases,14 cases were diagnosed as bronchopulmonary dysplasia (group BPD),the rest of 61cases as group NO-BPD.Comparative analyzed the gestational age,birth weight,use corticosteroids before birth,use pulmonary surfactant after birth,suffocation history,premature rupture of membrane history,the time of mechanical ventilation,oxygen time,patent ductus arteriosus and frequently lung infection between the two groups.Results:The rates of bronchopulmonary dysplasia were 12.73% (14/110).The difference of use corticosteroids before birth,use pulmonary surfactant after birth and suffocation history between the two groups wasn't statistically significant(P>0.05).There was statistically significant of the difference of premature rupture of membrane history patent ductus arteriosus and frequently lung infection between the two groups (P28d的早产儿110例的临床资料,需要应用机械通气治疗75例,其中14例诊断为早产儿支气管肺发育不良(为BPD组),61例为非BPD组.比较分析患儿的胎龄、出生时体质量、生前应用糖皮质激素、生后应用肺表面活性物质、窒息史、胎膜早破史、机械通气时间、吸氧时间、动脉导管未闭、反复肺部感染等临床资料.结果:早产儿支气管肺发育不良的发生率占所有住院早产儿的12.73%(14/110).BPD组患儿生前应用糖皮质激素、生后应用肺表面活性物质、窒息史,与非BPD组比较无明显差异性(P>0.05);而BPD组患儿的胎膜早破、动脉导管未闭、反复肺部感

  4. Pulmonary arterial hypertension associated with bronchopulmonary dysplasia and congenital heart disease in preterm infants. A case report of a preterm infant with recurrent pulmonary hypertension after corrective cardiac surgery and review of the literature.

    Science.gov (United States)

    Muneuchi, Jun; Kuraoka, Ayako; Watanabe, Mamie; Ochiai, Yoshie; Joo, Kunitaka

    2015-01-01

    In preterm infants with congenital heart disease, concomitant bronchopulmonary dysplasia (BPD) is associated with relatively poor clinical outcomes because of the increased pulmonary vascular resistance and adverse effects of inflammation on the damaged lungs, even after surgery. We present herein a 1-year-old female who developed recurrent pulmonary arterial hypertension 6 months after closure of a ventricular septal defect. She was born at 26 weeks of gestation (birth weight, 470 g), and developed BPD requiring oxygen supplementation. Her systemic-to-pulmonary blood flow ratio was 2.1 preoperatively and 1.0 postoperatively, pulmonary arterial pressure was 61/15 (mean 39) mmHg preoperatively and 41/17 (mean 24) mmHg postoperatively, and pulmonary vascular resistance was 4.2 mmHg/L·minute·m(2) preoperatively and 3.6 mmHg/L·minute·m(2) postoperatively. At 1 year of age, echocardiography showed an increase in her estimated right ventricular pressure, indicating worsening pulmonary hypertension. After 3 years of treatment with oxygen supplementation, prostacyclin, and bosentan, her pulmonary arterial pressure improved to the normal range. The pathophysiology of pulmonary arterial hypertension is heterogeneous in preterm infants with congenital heart disease and concomitant BPD. Careful management of these patients is warranted even after corrective cardiac surgery.

  5. 支气管肺发育不良的防治——证据及临床应用%Prevention and therapy of bronchopulmonary dysplasia - evidence and clinical practice

    Institute of Scientific and Technical Information of China (English)

    Wolfgang THOMAS; Christian P SPEER; 钱莉玲

    2007-01-01

    The knowledge on the pathogenetic mechanisms of bronchopulmonary dysplasia (BPD) has increased considerably over recent years. However, the incidence of the disease has not substantially been changed by our therapeutic approaches. This review summarizes the existing evidence for a number of respiratory and medical strategies to prevent or ameliorate the disease and gives recommendations for clinical practice. Oxygen plays an important pathogenetic and therapeutic role for BPD. Targeting infants at lower oxygen saturation levels than traditionally used seems to confer major advantages. There is no sufficient evidence for a routine use of respiratory strategies like permissive hypercapnia or inhaled nitric oxide to prevent BPD. Diuretics can ameliorate lung function transiently. High intramuscular doses of vitamin A can reduce the risk of BPD. Early or prophylactic surfactant might also be advantageous. Postnatal corticosteroids are effective but,due to their severe side effects, should be restricted to the severest cases. Alpha1-proteinase inhibitor and superoxide dismutase have no proven benefits for BPD. The role of erythromycin has not been completely elucidated yet. Innovative strategies like Clara Cell 10kD protein still have to be assessed in future trials.

  6. Mechanical ventilation strategies in the prevention and treatment of bronchopulmonary dysplasia%支气管肺发育不良防治的机械通气策略

    Institute of Scientific and Technical Information of China (English)

    王燕(综述); 张士发(审校)

    2014-01-01

    支气管肺发育不良是早产儿呼吸系统的常见疾病。随着危重新生儿救治技术的不断提升和肺表面活性物质的使用,早产儿的存活率显著提高,而支气管肺发育不良作为早产儿的严重并发症之一,其发病率有增加的趋势,并且严重影响早产儿的生活质量。因此,对于支气管肺发育不良的防治尤为重要。目前,已经有很多不同的、新的治疗方法,其中有些方法减少了其严重性,但仍缺乏有效的方法以降低支气管肺发育不良的发病率。该文对支气管肺发育不良的机械通气治疗进展作一综述。%Bronchopulmonary dysplasia( BPD) is very common in respiratory system in preterm infants. With the improvement of emergency care technique of preterm infant and the use of pulmonary surfactant,the survival of preterm infant has increased dramatically. The incidence of BPD is on the rise,which is one of the se-rious complications of preterm infant and seriously affects the quality of their lives. Therefore,it is very important to prevent and treat BPD. So far,there have been many different and new treatment modalities. Some of them have reduced the severity of the disease,but none of them have been able to impact upon the increasing incidence of BPD.

  7. Avaliação da aptidão cardiorrespiratória de crianças com displasia broncopulmonar Cardiorespiratory capacity assessment on children with bronchopulmonary dysplasia

    Directory of Open Access Journals (Sweden)

    LR Abreu

    2007-04-01

    Full Text Available OBJETIVO: Avaliar a aptidão cardiorrespiratória e verificar a presença de broncoespasmo induzido pelo exercício (BIE em crianças com displasia broncopulmonar (DBP. MÉTODO: Foram realizadas prova de função pulmonar e análise de gases em um teste cardiopulmonar, em 46 crianças com idade entre 7 a 10 anos, formando três grupos: crianças nascidas pré-termo com DBP, (DBP, n= 13; crianças nascidas pré-termo sem DBP, (RNPT, n= 13; e crianças saudáveis nascidas a termo, (Controle, n= 20. RESULTADOS: A duração dos testes foi 7,70 ± 1,49; 9,1 ± 2,02 e 8,4 ± 2,12 min; o VO2máximo foi 35,98 ± 5,33; 38,99 ± 6,73 e 34,91 ± 6,09 ml/kg/min; e a VE foi 28,54 ± 7,39; 28,84 ± 5,98 e 28,96 ± 6,96 l/min para os grupos DBP, RNPT e Controle, respectivamente. Não foram encontradas diferenças significantes entre os grupos (p> 0,05. A FCmáxima foi 188 ± 9,37; 196 ± 5,15 e 197 ± 10,90 bpm; a taxa de troca gasosa máxima (R foi 1,21 ± 0,22; 1,10 ± 0,06 e 1,05 ± 0,05 para os grupos DBP, RNPT e Controle, respectivamente, sendo esses valores diferentes entre o grupo Controle e DBP (pOBJECTIVE: To assess cardiorespiratory capacity and investigate the presence of exercise-induced bronchospasm among children with bronchopulmonary dysplasia. METHOD: Pulmonary function tests and gas analyses were performed in a cardiopulmonary test on 46 children aged 7-10 years. Three groups were formed: children born prematurely with bronchopulmonary dysplasia (BPD; n= 13, children born prematurely without bronchopulmonary dysplasia (Preterm; n= 13 and healthy children born at full term (Control; n= 20. RESULTS: The test duration was 7.70 ± 1.49; 9.1 ± 2.02 and 8.4 ± 2.12 min; VO2max was 35.98 ± 5.33; 38.99 ± 6.73 and 34.91 ± 6.09 ml/kg/min; and VE was 28.54 ± 7.39; 28.84 ± 5.98 and 28.96 ± 6.96 l/min for the BPD, Preterm and Control groups respectively. There were no significant differences between the groups (p> 0.05. The maximum heart rate was

  8. 支气管肺发育不良分子遗传学研究进展%Study Advances in Molecular Genetics of Bronchopulmonary Dysplasia

    Institute of Scientific and Technical Information of China (English)

    陈冲; 封志纯

    2012-01-01

    支气管肺发育不良(BPD)的发病率在我国呈逐年上升趋势,但其病因及发病机制尚不十分清楚,研究表明,BPD的发生不仅与早产及氧体积分数等外源性因素有关,且有较大的遗传易感性.现就肺表面活性物质、基质金属蛋白酶、血管内皮生长因子、TNF、转化生长因子-β和结缔组织生长因子等在BPD发生发展中的调节作用的研究进展进行综述.%The incidence of bronrhopulmonary dysplasia ( BPD) is tending to increase year after year in China. However, the etiology and pathogenesis have been unclear. BPD is not only related to external factors,such as preterm and oxygen,but also related to internal factors, such as genetic susceptibility. This paper briefly reviews the regulative roles of pulmonary surfactant, matrix metalloproteinase, vascular endothelud growth factor,tumour necrosis factor,transforming growth factor — β and connective tissue growth factor for BPD.

  9. Phenotypic assessment of pulmonary hypertension using high-resolution echocardiography is feasible in neonatal mice with experimental bronchopulmonary dysplasia and pulmonary hypertension: a step toward preventing chronic obstructive pulmonary disease

    Directory of Open Access Journals (Sweden)

    Reynolds CL

    2016-07-01

    Full Text Available Corey L Reynolds,1 Shaojie Zhang,2 Amrit Kumar Shrestha,2 Roberto Barrios,3 Binoy Shivanna2 1Mouse Phenotyping Core, 2Section of Neonatology, Department of Pediatrics, Baylor College of Medicine, Houston, TX, USA; 3Department of Pathology and Genomic Medicine, Houston Methodist Hospital, Houston, TX, USA Abstract: Bronchopulmonary dysplasia (BPD and chronic obstructive pulmonary disease (COPD are chronic lung diseases of human infants and adults, respectively, that are characterized by alveolar simplification. One-third of the infants with severe BPD develop pulmonary hypertension (PH. More importantly, PH increases morbidity and mortality in BPD patients. Additionally, COPD is a common respiratory morbidity in former BPD patients. The lack of an appropriate small animal model wherein echocardiography (Echo can demonstrate PH is one of the major barriers to understand the molecular mechanisms of the disease and, thereby, develop rational therapies to prevent and/or treat PH in BPD patients. Thus, the goal of this study was to establish a model of experimental BPD and PH and investigate the feasibility of Echo to diagnose PH in neonatal mice. Since hyperoxia-induced oxidative stress and inflammation contributes to the development of BPD with PH, we tested the hypothesis that exposure of newborn C57BL/6J mice to 70% O2 (hyperoxia for 14 days leads to lung oxidative stress, inflammation, alveolar and pulmonary vascular simplification, pulmonary vascular remodeling, and Echo evidence of PH. Hyperoxia exposure caused lung oxidative stress and inflammation as evident by increased malondialdehyde adducts and inducible nitric oxide synthase, respectively. Additionally, hyperoxia exposure caused growth restriction, alveolar and pulmonary vascular simplification, and pulmonary vascular remodeling. At 14 days of age, Echo of these mice demonstrated that hyperoxia exposure decreased pulmonary acceleration time (PAT and PAT/ejection time ratio and increased

  10. The high-risk factors for bronchopulmonary dysplasia in premature infants of mechanical ventilation%机械通气早产儿支气管肺发育不良的高危因素分析

    Institute of Scientific and Technical Information of China (English)

    张慧; 富建华; 薛辛东

    2011-01-01

    目的 探讨机械通气早产儿支气管肺发育不良(bronchopulmonary dysplasia,BPD)的发病率及高危因素.方法 回顾性分析2008年1月至2009年12月我院NICU住院治疗并存活28d以上的、胎龄≤32周的极低出生体质量儿196例的临床资料,其中机械通气治疗61例,21例诊断为BPD(BPD组),40例为非BPD组,对两组患儿临床资料进行对照研究.结果 胎龄≤32周的极低出生体质量儿的BPD总发病率为10.7%,有机械通气史者发病率高达34.4%;BPD组患儿的胎龄及出生体质量均较非BPD组低.BPD组有胎膜早破史及合并新生儿呼吸窘迫综合征(neonatal respiratory distress syndrome,NRDS)、产后感染、应用静脉营养时间长者较非BPD组均明显增高,差异有统计学意义(P0.05),而吸气峰压、机械通气最高氧浓度、机械通气时间及总吸氧时间在两组间差异有统计学意义(P0.05).Peak inspiratory pressure (PIP),the time of mechanical ventilation and oxygen administration were different significantly between two groups (P<0.05).NRDS,postnatal infection,the duration of ventilation,and hyperoxia were the risk factors for BPD,and the regression coefficient were 3.683,1.541,1.188 and 1.647.Conclusion Preventing premature,low birth weight,NRDS,shortening the duration of high peak inspiratory pressure and hyperoxia with mechanical ventilation and the use of the parenteral nutrition,managing the infection of the prenatal and postnatal are the key points of preventing BPD.

  11. Risk factors of different severities bronchopulmonary dysplasia in preterm infants%不同程度支气管肺发育不良早产儿的出生情况及临床疗效分析

    Institute of Scientific and Technical Information of China (English)

    陈均; 陈健; 陆俏群

    2014-01-01

    Objective To analyze the risk factors of different severities bronchopulmonary dysplasia (BPD)in preterm infants and to guide this disease clinical prevention and treatment. Methods The clinical records of 128 preterm infants with different severities BPD,who were admitted to NICU from Feb.201 1 to Feb.2014,were collected and were assigned to one of the 3 groups (mild,moderate,severe)based on BPD se-verities.Statistical analysis of every data set was performed. Results Mild,moderate and severe BPD groups had 57,45 and 26 cases,respectively.Comparisons gender,birth delivery times,birth delivery methods,ges-tational hypertension,use of prenatal Corticosteroids,fetal distress,resuscitation of newborn,use of pulmona-ry surfactant and pulmonary hemorrhage complication among three groups were performed and there were no statistically significant differences (P >0.05).The birth weights and gestational age decreased with the in-creasing severity of BPD,meanwhile the incidence of Apgar 1 minute score 12 hours,infection in pregnancy period,meconium contamination of the amniotic fluid were in-creased,there were statistically significant differences (P 0.05);随着 BPD 程度的加重,胎龄和出生体重呈下降趋势,阿氏评分1 min12 h、母亲孕期合并感染、羊水胎粪污染的比例上升(P <0.05);用氧时间、输浓缩红细胞(CRBC)、血和痰培养阳性、合并 PDA 以及侵入性治疗(机械通气、气管插管超过2次、插胃管)等方面的比例渐增大,差异有统计学意义(P <0.05)。结论避免早产低出生体重是预防 BPD 的基础,积极防治感染、缩短气管插管机械通气和用氧的时间是减轻 BPD 严重程度的关键措施。

  12. Oxidative stress in experimental bronchopulmonary dysplasia

    OpenAIRE

    Horst, Simone Antonia Johanna ter

    2008-01-01

    Due to a lack of patient materials and ethical reasons animal models of BPD are critical for characterization the pathophysiology of BPD and testing of potential treatment options. In chapter 2 of this thesis we characterize a rat model for experimental BPD, induced in neonatal pups by prolonged exposure to hyperoxia, by investigating histopathology and differential gene expression profiles in the lung and demonstrate its significance for studying BPD in premature infants. In chapter 3 we des...

  13. Oxidative stress in experimental bronchopulmonary dysplasia

    NARCIS (Netherlands)

    Horst, Simone Antonia Johanna ter

    2008-01-01

    Due to a lack of patient materials and ethical reasons animal models of BPD are critical for characterization the pathophysiology of BPD and testing of potential treatment options. In chapter 2 of this thesis we characterize a rat model for experimental BPD, induced in neonatal pups by prolonged exp

  14. Avaliação neurológica de recém-nascidos pré-termo de muito baixo peso com displasia broncopulmonar Neurological assessment of very low birth weight infants with bronchopulmonary dysplasia

    Directory of Open Access Journals (Sweden)

    Tathiana Ghisi de Souza

    2009-03-01

    Full Text Available OBJETIVO: Descrever e comparar a avaliação neurológica e comportamental de recém-nascidos pré-termos com e sem displasia broncopulmonar (DBP. MÉTODOS: Recém-nascidos prematuros com peso ao nascer inferior a 1500g e idade gestacional menor de 32 semanas foram avaliados com 40 semanas de idade gestacional corrigida, no Centro de Atenção Integral à Saúde da Mulher da Universidade Estadual de Campinas. Utilizou-se a Avaliação Neurológica de Dubowitz, com 29 itens divididos em seis categorias: tônus, padrões de tônus, reflexos, movimentos, sinais anormais e comportamento. O estado de consciência do recém-nascido foi graduado segundo Brazelton (1973. Utilizaram-se os testes do qui-quadrado e exato de Fischer para variáveis qualitativas e o de Mann-Whitney para as numéricas não-paramétricas, com nível de significância de 5%. RESULTADOS: No período de janeiro de 2005 a setembro de 2007, 24 recém-nascidos, 12 com DBP e 12 controles, com idade gestacional ao nascer de 28±1 semana e peso de 884±202g no grupo com DBP e 31±1 semana e 1156±216g no Grupo Controle foram avaliados. Dos 29 itens avaliados, 18 foram homogêneos entre os grupos e a pontuação geral dos dois grupos não apresentou diferença (p=0,30. Observou-se maior anormalidade neurológica no grupo com DBP em oito itens e, no Grupo Controle, em três itens. CONCLUSÕES: A comparação da avaliação neurológica de Dubowitz de recém-nascidos pré-termos com e sem DBP não apresentou diferença significante com 40 semanas de idade gestacional corrigida. Nas categorias reflexos e postura/tônus, observou-se tendência a anormalidade no grupo DBP.OBJECTIVE: To compare the neurological assessment of preterm newborn infants with and without bronchopulmonary dysplasia (BPD. METHODS: Preterm newborn infants with birth weight less than 1,500g and gestational age less than 32 weeks were evaluated by Dubowitz Method at 40 weeks of corrected gestational age. All infants

  15. Clinical study on risk factors for bronchopulmonary dysplasia in premature infants%早产儿支气管肺发育不良危险因素的探讨

    Institute of Scientific and Technical Information of China (English)

    李源斌; 王爱平; 李卫东

    2011-01-01

    Objective: To investigate the risk factors for bronchopulmonary dysplasia (BPD) in premature infants and provide a basis for its prevention and treatment. Methods: 430 premature infants admitted to neonatal intensive care units (NICU) of Children's Hospital of Kunming City and our hospital from January 2006 to Decemher 2010 were investigated by a retrospective study. The relationship between 17 associated factors including gestational age (GA), birth weight (BW) and BPD were analyzed. Results: Among 430 cases of premature infants, there were 45 BPD cases with the incidence of 10.47%. The potential risk factors of BPD in univariate pearson's Chi-Square test were premature rupture of membranes,genital tract infection, prenatal application of glucocorticoids, test-tube baby, male, GA<32 weeks, BW<1 500 g, blood pH at birth<7.20, respiratory distress syndrome, infectious pneumonia,apnea Patent Ductus Arteriosus (PDA), sepsis, application of mechanical ventilation and pulmonary surfactant. Multivariate Logistic regression analysis found that GA<32 weeks,BW<1 500 g, infectious pneumonia, PDA, mechanical ventilation were the independent risk factors of BPD in premature infants. Conclusion: There are a lot of potential risk factors, among which GA<32 weeks, BW<1 500 g, infectious pneumonia PDA, mechanical ventilation were the independent risk factors of BPD in premature infants.%目的:调查早产儿支气管肺发育不良(BPD)发病的危险因素,为其防治提供理论依据.方法:回顾性分析2006年1月~2010年12月在我院及昆明市儿童医院新生儿病房住院的早产儿430例,分析胎龄、出生体重等17种可能的相关因素与BPD的关系.结果:430例早产儿中,45例发生BPD,发病率为10.47%.单因素分析显示.母亲有胎膜早破、产道感染、产前应用糖皮质激素、患儿为试管婴儿、男婴、胎龄<32周、出生体重<1 500 g、出生时血pH<7.20、患有呼吸窘迫综合征、感染性肺

  16. Risk factors of bronchopulmonary dysplasia in preterm infants%早产儿支气管肺发育不良的相关危险因素分析

    Institute of Scientific and Technical Information of China (English)

    罗英; 戴怡蘅; 刘卫东; 黄为民

    2015-01-01

    目的:探讨胎龄≥32周的极低出生体重儿支气管肺发育不良(bronchopulmonary dys-plasia,BPD)的相关危险因素及可能的防治方向。方法总结我院2012年10月至2014年10月收治的70例 BPD 患儿,选择70例胎龄≥32周且不需要依赖氧疗的极低出生体重儿作为对照组,分析两组患儿围生期可能的危险因素、氧疗和咖啡因使用情况。结果男婴较女婴更易发生 BPD(P ﹦0.000);BPD 组胎龄(P ﹦0.000)及出生体重(P ﹦0.002)均较非 BPD 组低;哮喘家族史、胎儿窘迫、羊水浑浊、宫内感染、肺出血、呼吸窘迫综合征、肺表面活性物质使用、动脉导管开放、呼吸机使用时间、经鼻持续气道正压通气/经鼻间歇正压通气使用时间、氧疗持续时间、咖啡因使用差异均有统计学意义(P 〈0.05);多因素 Logistic 回归分析显示性别(OR ﹦42.393,P ﹦0.002)、胎龄≥28周(OR ﹦58.665,P ﹦0.002)、体重〈1250 g(OR ﹦36.453,P ﹦0.012)、呼吸机使用时间(OR ﹦703.696,P ﹦0.000)是 BPD 发生的独立危险因素,咖啡因的使用(OR ﹦0.025,P ﹦0.010)和经鼻持续气道正压通气/经鼻间歇正压通气的使用(OR ﹦0.004,P ﹦0.002)是 BPD 发生的保护性因素。结论加强产前保健,尽可能减少宫内感染及早产,严格液体管理减少动脉导管开放,合理应用呼吸机,尽量选择无创机械通气,合理使用咖啡因有助于减少 BPD 的发生。%Objective To approach the risk factors of bronchopulmonary dysplasia(BPD)with very low birth weight infants whose gestational age less than 32 weeks,thus it could provide a basis direction for prevention.Methods To summarize 70 neonates with BPD in October 2012 to October 2014 in our hospital, and randomly select 70 very low birth weight infants didn't have oxygen requirement of gestation age less than 32 weeks as control group.The perinatal risk factors,oxygen therapy and use caffeine were analyzed by using the statistical

  17. Bronchopulmonary sequestration and dextrocardia.

    Science.gov (United States)

    Ivanovi-Herceg, Z; Majerić-Kogler, V; Mazuranić, I; Neralić-Meniga, I; Puljić, I

    1998-06-01

    Bronchopulmonary sequestration (BPS) is usually a rare congenital anomaly, which is most frequently extralobar or intralobar. The case of a patient with positional congenital anomaly--dextrocardia (situs thoracalis inversus) and intrapulmonary sequestration (IPS) is presented. Clinical and radiological characteristics of EPS and IPS are discussed, and new combinations of congenital anomalies with bronchopulmonary sequestration are described, dextrocardia and intrapulmonary sequestration. The importance of the algorithm of diagnostic examinations is emphasized, from detection of bronchopulmonary sequestration on the chest roentgenogram to establishing a definite diagnosis by means of angiography.

  18. 不同分度早产儿支气管肺发育不良临床高危因素%Risk factors of bronchopulmonary dysplasia in preterm infants with different severities

    Institute of Scientific and Technical Information of China (English)

    徐发林; 张彦华; 段佳佳; 张晓丽; 郭佳佳

    2013-01-01

    Objective To improve the prevention and treatment of bronchopulmonary dysplasia(BPD) in preterm infants,and the clinical risk factors of premature neonates with different severities of BPD were investigated.Methods A total of 139 cases among preterm infants who were admitted to NICU in the Third Affiliated Hospital of Zhengzhou University from Jan.2007 to Dec.2011 were analyzed retrospectively.The history of birth and mother pregnancy,clinical treatment,prognosis and complication of mild,moderate and severe BPD according to clinical diagnostic criteria were analyzed,respectively.Results Of the total 139 premature neonates,61 cases were diagnosed as mild BPD,48 cases as moderate BPD and 30 cases as severe BPD.No significant differences were found in gender,birth times,fertilization,delivery mode,the percentage of fetal distress and neonatal resuscitation,maternal age,the percentage of pregnancy-induced hypertension,the percentage of antenatal corticosteroids administration and postnatal pulmonary surfactant and combined with patent ducts arteries among the different groups(all P > 0.05).With the increasing severity of BPD,the birth weight and gestational age were decreasing,the percentage of the infants with Apgar 1 minute score ≤7,premature rupture of membranes ≥ 8 hours,maternal perinatal infection,meconium-stained amniotic fluid were increasing(all P < 0.05).And mechanical ventilation,the time of using oxygen,and the percentage of trachea cannula intubation ≥2 times,indwelling gastric tube and red blood cells transfusing,the positive rate of sputum cultures and the blood culture were also increased with the increasing severity of BPD(all P < 0.05).Conclusions Preventing of preterm delivery,control and reduce antenatal and postnatal infection,shorten the duration of mechanical ventilation and usage of oxygen are key factors to reduce BPD and severities in neonatal infants.%目的 探讨不同分度早产儿支气管肺发育不良(BPD)的临床高危

  19. Inlfuencing factors for severity of bronchopulmonary dysplasia in preterm infants%早产儿支气管肺发育不良严重程度的影响因素

    Institute of Scientific and Technical Information of China (English)

    李燕; 韦秋芬; 潘新年; 蒙丹华; 韦玮; 伍秋频

    2014-01-01

    Objective To explore the inlfuencing factors for the severity of bronchopulmonary dysplasia (BPD) in preterm infants. Methods The clinical data of 110 preterm infants who were diagnosed with BPD and had a hospital stay of over 28 days between January 2011 and December 2013 were analyzed. These BPD infants were divided into 3 groups according to the clinical criteria:mild group (n=52), moderate group (n=44), and severe group (n=14). The relationship between the severity of BPD and the gestational age, birth weight, asphyxia, oxygen therapy, pregnancy complications, intrauterine pneumonia and mechanical ventilation was analyzed. Results The severity of BPD was correlated with the following factors:gestational age, birth weight, prenatal infection, duration of oxygen inhalation with a concentration of>40%, use of mechanical ventilation, parameters and duration of mechanical ventilation, duration of continuous positive airway pressure, adoption of intubation surfactant extubation (INSURE) approach, Ureaplasma urealyticum infection, intrauterine pneumonia and patent ductus arteriosus. Logistic regression analysis indicated that the mechanical ventilator parameter peak inspiratory pressure (OR=1.260, 95%CI:1.096-1.448) and duration of mechanical ventilation (OR=1.010, 95%CI:1.005-1.016) were independent risk factors for the severity of BPD, while the INSURE approach was a protective factor (OR=0.208, 95%CI:0.060-0.923). Conclusions The severity of BPD is associated with various factors in preterm infants. The important measures for preventing BPD include avoiding the birth of preterm infants with a very low birth weight, shortening the duration of mechanical ventilation, preventing and reducing pulmonary infections, and applying the INSURE approach.%目的:探讨早产儿支气管肺发育不良(BPD)严重程度的影响因素。方法收集2011年1月至2013年12月住院28d以上的明确诊断为BPD的早产儿110例,根据临

  20. 小胎龄早产儿支气管肺发育不良发生率和危险因素分析%The incidence and risk factors of bronchopulmonary dysplasia in small gestational age premature infants

    Institute of Scientific and Technical Information of China (English)

    郑国方; 武荣; 刘石; 郝小清

    2012-01-01

    Objective To analyse bronchopulmonary dysplasia (BPD) incidence and high risk factor in the small gestational age premature infants. Methods Retrospective analyse the materials of inpatient infants whose gestational age (GA) were =?2 weeks and survived over 28 days in our neonatal intensive care unite ( NICU). The 28 cases as BPD group met the new diagnostic criteria of BPD. The 56 cases as the control group were randomly selected from all the premature infant with no BPD. Results Total of 197 cases of premature infant were included in this study. The incidence of BPD is about 14.2%. There were statistical significance in each GA period group (x2 =32.269,/* =0.000). The incidence increased when the GA decreased; There were statistical significance in each birth weight group (x2 =30. 244, P =0. 000), the incidence increased when birth weight decreased. From the comparison of the 23 risk factors for BPD, we find thai 12 factors have statistical significance (P < 0. 05), those are GA, body weight, oxygen time, maximum oxygen treatment concentration, hospital days, tracheal intubation mechanical ventilation, replacement therapy with pulmonary surfactant, anemia, application of Meropenem, the ratio of tenth day body weight to birth weight, the first blood gas analysis scores after birth and oxygen index < 300. On the basis of Logistic regression analysis of GA, birth weight, the highest inhaled oxygen volume concentration, tracheal intubation mechanical ventilation, anemia, the ratio of tenth day body weight to birth weight, we find that body weight, the highest inhaled oxygen volume concentration, the ratio of tenth body weight to birth weight are high risk factors for BPD. By compared the 18 factors between mild BPD and moderate or severe BPD, we find that asphyxia, application of diuretic, oxygen time and first blood gas analysis scores after birth have statistical significance ( P < 0.05 ) . Conclusions The birth weight, the highest inhaled oxygen volume

  1. 常频机械通气和鼻塞式持续气道正压通气致早产儿支气管肺发育不良的临床比较%Comparison of bronchopulmonary dysplasia between mechanical ventilation and NCPAP in premature infants

    Institute of Scientific and Technical Information of China (English)

    陈洪; 潘家华

    2014-01-01

    Objective To explore morbidity rate of bronchopulmonary dysplasia of premature infants in Anhui Provincial Hospital ,to determine the incidence of bronchopulmonary dysplasia affected by machinery ventilation and NCPAP in premature infants .Methods To prevent the occurrence of bronchopulmonary dysplasia ,data were retrospectively collected from NICU in Anhui Provincial Hospital between Jan.1,2013 to Dec.31,2013.All babies whose gestational age was 0.05).The overall incidence of BPD was 49.0%.The inci-dence of BPD in CMV group was significantly higher than that in NCPAP group (P<0.01).Conclusions The incidence of BPD was high in NICU of Anhui Provincial Hospital .In comparison with NCPAP ,CMV is more likely to cause BPD in premature infants ,the a-voidance of which can significantly decrease the incidence of BPD ,therefore ,NCPAP is a prior choice in clinic .%目的:调查早产儿支气管肺发育不良(BPD)的发病率,探讨常频机械通气(CMV)和鼻塞式持续气道正压通气(NCPAP)对早产儿BPD发病率的影响。方法收集安徽省立医院新生儿病房2013年1月1日至2013年12月31日收治的胎龄<37周且存活≥28 d早产儿临床资料,根据患儿辅助通气情况,分为CMV组和NCPAP组;生后≥28 d仍然需要吸氧并伴有胸片改变定义为BPD,比较两组BPD的发病率。结果入选早产儿100例,CMV组50例,NCPAP组50例,两组在胎龄、性别、出生体重、住院时间、通气时间、妊娠史及合并疾病等方面差别无统计学意义(P>0.05)。 BPD总体发病率为49.0%,CMV组BPD发病率明显高于NCPAP组,差别有统计学意义( P<0.01)。结论早产儿BPD的发病率仍然较高,CMV较NCPAP更易使早产儿发生BPD,避免CMV可明显降低早产儿BPD的发生,临床应尽量使用NCPAP帮助早产儿度过呼吸困难阶段。

  2. Prospective study of risk factors for preterm infants with bronchopulmonary dysplasia%早产儿支气管肺发育不良危险因素前瞻性研究

    Institute of Scientific and Technical Information of China (English)

    任艳丽; 孔祥永; 杜志方; 封志纯

    2015-01-01

    Obgective To explore the risk factors of preterm infants with bronchopulmonary dysplasia(BPD).Methods A prospective cohort study was conducted to analyze the risk factors of preterm infants with BPD.Preterm infants (gestational age < 32 weeks,and admission within 24 h since birth,and survival time more than 28 d since birth) who were sent to the Ward of Extremely Preterm Infants in Bayi Children's Hospital Affiliated to Clinical Medical College in Beijing Military General Hospital of Southern Medical University were enrolled from November 2013 to May 2014.According to the diagnostic criteria of BPD,the subjects were divided into 2 groups(BPD group and non-BPD group).Factors such as maternal information,neonatal basic information,neonatal diseases and treatments were compared between the 2 groups.Risk factors of preterm infants with BPD were analyzed by using t test,Chi-square test,Fisher's exact probability method and Logistic regression analysis.Results (1) A total of 298 cases were enrolled in this study.Among these infants,180 cases were male and 118 cases were female.The gestational age ranged from 25.6 to 31.9 weeks with the average age of (29.9 ± 1.4) weeks and the birth weights ranged from 740 to 2 300 g with the average weight of (1 428.3 ± 289.0) g.There were 19 cases of extremely low birth weight and 175 cases of very low birth weight.Sixty-nine cases of these infants were diagnosed as BPD (43 cases were mild,10 cases were moderate,16 cases were severe) with incidence of 23.2%.(2)The incidence of BPD was negatively related to gestational age and birth weight:the incidence of BPD in preterm infants with gestational age < 28 weeks,28-30 weeks and ≥ 30-32 weeks were 70.4%,41.9% and 6.2%;the incidence of BPD in preterm infants with birth weight < 1 000 g,1 000-1 500 g and ≥ 1 500-1 800 g were 78.9%,29.5% and 8.8%.(3) Multivariate Logistic regression found gestational age (OR =4.52),birth weight (OR =3.38),gender (OR =3

  3. 不同时间使用地塞米松对支气管肺发育不良的防治作用%Clinical study of Dexamethasone in different time for treatment and prevention of bronchopulmonary dysplasia

    Institute of Scientific and Technical Information of China (English)

    齐骥; 杨震英

    2015-01-01

    Objective To study the effect of using Dexamethasone in different time for treatment and prevention of bronchopulmonary dysplasia (BPD), in order to provide the clinical reference as to whether dexamethasone can be used to prevent and treat BPD.Methods A total of 135 very low birth weight infants hospitalized for 1 week who still survived on mechanical ventilation were studied.The total cases were divided into early Dexamethasone group and none Dexamethasone group.Whether early using dexamethasone could prevent BPD or not were observed.The BPD infants were divided into 3 groups, early Dexamethasone group, later Dexamethasone group and none Dexamethasone group.The effect of using Dexamethasone on BPD in different time were observed.Results (1) Among these 135 infants,there were 65 infants developing BPD.The incidence of BPD was 48.15%.There were no significant differences in the prevalence of BPD, the death rate and the disease index of BPD between the early Dexamethasone group and the none Dexamethasone group (all P > 0.05).(2) There were no significant differences in mechanical ventilation time among the 3 BPD groups [(19.81 ± 5.67) d vs (22.32 ± 6.20) d, (21.46 ± 7.02) d, P =0.405].But the average time of inhaling oxygen and hospital stays of later Dexamethasone BPD group were shorter than early Dexamethasone BPD group and none Dexamethasone BPD group.The differences were significant [(37.27 ± 10.14) d vs (45.96 ± 9.91) d,(43.42 ±8.73) d,P=0.012;(64.11 ±8.14) d vs (76.13 ±7.57) d,(68.59 ±8.53) d,P =0.000].(3) The incidence of infection (90.90%, 100.00% vs 81.90%), hyperglycemia (27.27 %, 30.43 % vs 10.00 %), hypertension(9.09% ,13.04% vs 0) and neonatal necrotizing enterocolitis(22.73% ,34.78% vs 15.00%) of all the infants who received Dexamethasone were higher than the infants who did not receive Dexamethasone.But the differences showed no significance(all P > 0.05).(4) There were no significant differences among the 3 BPD

  4. Metastasizing Bronchopulmonary Leiomyosarcoma

    Directory of Open Access Journals (Sweden)

    Speros Livieratos MD

    2015-04-01

    Full Text Available An otherwise healthy 55-year-old female, nonsmoker, was seen in pulmonary consultation for progressively worsening shortness of breath. She had undergone a complete hysterectomy 7 years prior for bleeding leiomyomas. On presentation, her initial chest X-ray showed a large right-sided pleural effusion with multiple pulmonary nodules. Two thoracenteses failed to reveal any cytologic abnormalities. Bronchoscopy revealed smooth, round, endobronchial lesions. Histologic examination showed features consistent with leiomyosarcoma. We present a rare case of a patient that initially had possible leiomyomas of the uterus surgically removed and years later presented with bronchopulmonary leiomyosarcoma.

  5. Endosonography in bronchopulmonary disease

    DEFF Research Database (Denmark)

    Vilmann, Peter; Annema, Jouke; Clementsen, Paul

    2009-01-01

    via the esophagus, trachea and main bronchi. The concept of complete echo-endoscopic staging of lung cancer is postulated as virtually all mediastinal nodes as well as regions relevant to pulmonal medicine (liver and adrenal glands) can be reached by these two methods in combination....... a major impact of EUSFNA as well as EBUS-TBNA on management of patients with lung cancer as well as in patients with unknown lesions in the mediastinum. The aim of the present review is to discuss the current role of endosonography in bronchopulmonary diseases focusing on endosonographically guided biopsy...

  6. 轻度支气管肺发育不良儿童的发育及脉冲振荡肺功能研究%A Study on Physical Development and Pulmonary Function by Impulse Oscillometry in Children with Mild Bron-chopulmonary Dysplasia

    Institute of Scientific and Technical Information of China (English)

    王淑玉; 吕朝霞; 郑一博

    2015-01-01

    目的 监测轻度支气管肺发育不良( bronchopulmonary dysplasia, BPD)儿童3~5岁脉冲振荡肺功能气道阻力及体格发育的动态变化,探讨BPD对患儿远期肺功能和生长发育的影响. 方法 收集14例轻度BPD患儿(BPD组)3~5岁临床资料,监测身高体重变化,使用Master Screen系列肺功能测定系统做脉冲振荡肺功能(IOS)检查,与同胎龄未合并BPD早产儿20例(对照组)比较. BPD组13例、对照组10例3岁时行高分辨CT( HRCT)检查.结果 3、4、5岁BPD组与对照组体重和身高比较,差异无统计学意义(P>0. 05). IOS检测提示呼吸总阻抗(Zrs),总气道阻力(R5),周边弹性阻力(X5)在BPD患儿中明显升高,与同龄非BPD对照组对比,差异有统计学意义(P0. 05). BPD组有10 例患儿3 岁时HRCT有影像学异常,对照组10例中均无异常. 结论 轻度BPD可导致学龄前儿童肺功能明显异常.%Objective To monitor the dynamic changes of pulmonary function airway resistance by impulse oscil-lometry and physical development in 3-5 year-old children with mild bronchopulmonary dysplasia ( BPD) , and to investi-gate the effects of BPD on long-term pulmonary function and physical development. Methods Clinical data of 14 3-5 year-old children with mild BPD ( BPD group) was collected, and the changes of body height and weight were monitored, pulmonary functions by impulse oscillometry ( IOS) were detected using Master Screen lung function measurement sys-tem. The values were compared with those of 20 premature infants at the same fetal age without BPD ( control group) . The high-resolution CT ( HRCT) was performed for 13 children in BPD group and 10 children in control group at the age of 3. Results There were no significant differences in body height and weight between BPD group ( at the age of 3, 4 and 5) and control group (P>0. 05). IOS detection showed that total respiratory impedance (Zrs), total airway resist-ance (R5) and peripheral reactance (X5) values were

  7. Assessment of the effect of surfactant on pulmonary function in bronchopulmonary dysplasia infants%肺表面活性物质对支气管肺发育不良婴幼儿的肺功能评价研究

    Institute of Scientific and Technical Information of China (English)

    王焕焕; 聂川; 黄水清

    2013-01-01

    目的:评价肺表面活性物质 (Pulmonary surfactant,PS)对支气管肺发育不良(bronchopulmonary dysplasia, BPD)婴幼儿肺功能的影响.方法:胎龄<32周,出生体重<1 500g,出院时诊断为BPD的早产儿40例,按有无使用PS分为PS组 (20例)和非PS组 (20例).动态监测两组患儿1岁、2岁、3岁时的肺功能情况,主要是潮气呼吸参数中的达峰时间比(TPTEF/TE)、达峰容积比(VPEF/VE)、吸气时间(Ti)、呼气时间(Te)、潮气量(VT)、身高、体重、出院后3年中因呼吸系统疾病再入院次数.结果:1岁时PS组与非PS组的肺功能参数值、身高、体重、均无明显差异 (P均>0.05).2岁及3岁时PS组的各项肺功能参数、身高、体重均优于非PS组, (P均<0.05),差异有统计学意义.出院后3年中因患呼吸系统疾病再人院次数的比较中发现,PS组平均住院(2.63±0.80)次,而非PS组为(4.57±1.22)次,差异有统计学意义(P<0.05).结论:PS替代治疗可以改善BPD患儿2岁及3岁时的生长发育状况、肺功能状况、并降低BPD患儿再人院次数.%Objective:To assess the effect of pulmonary surfactant (PS) on pulmonary function in bronchopulmonary dysplasia (BPD) infants.Methods:Forty preterm infants with BPD were enrolled (gestational age less than thirty-two weeks,weighting less than 1 500 g),and divided into PS and non-PS groups.Pulmonary function was monitored at 1,2,3 years old,including TPTEF/TE,VPEF/VE,Ti,Te,VT.Body height,weight and the times of re-hospitol caused by respiratory disease were detected.Results:At one years old,there were no significant differences between non-PS and PS groups in lung function parameters,height,body weight (P >0.05).At two years old and three years old,all above indicators were better in PS group than those of non-PS group (P < 0.05).The number of admited to hospital in PS group was (2.63 ±0.08) times,however was (4.57 ± 1.22) times in non-PS group,there was significant difference

  8. 早产儿支气管肺发育不良与肺表面活性物质蛋白基因多态性的相关研究%The Study on Relationship between Premature Bronchopulmonary Dysplasia and Gene Polymorphism of Surfactant Protein

    Institute of Scientific and Technical Information of China (English)

    谢云波

    2012-01-01

    With the increasing survival rate of preterm children,the problems of preterm children bronchopulmonary dysplasia( BPD ) are becoming prominent. The disease needs long-time oxygen and has high mortality. The survivals often have highly reactive airway disease,lower respiratory infection,feeding difficulties, and growth retardation,so it is one of the difficult problems in neonatal intensive care unit,which would be an important factor impacting on quality of life. Recent studies found that the incidence of BPD was significantly affected by complex interactions of genetic and environmental factors. Here is to make a review on the recent research of BPD and pulmonary surfactant protein gene polymorphism.%随着早产儿存活率的不断提高,早产儿支气管肺发育不良(BPD)的问题日益突出.BPD需长时间用氧治疗,病死率高,存活者常遗留高反应性呼吸道疾病、反复下呼吸道感染、喂养困难、生长发育迟缓等问题,因此一直是新生儿重症监护室最为棘手的问题之一,也是严重影响早产儿生存质量的重要因素.近年来研究认为BPD的发病明显受基因和环境因素相互作用的影响.现就近年来有关早产儿BPD与肺表面活性物质蛋白基因多态性的相关研究进行综述.

  9. Animal models of bronchopulmonary dysplasia. The preterm baboon models

    OpenAIRE

    Yoder, Bradley A.; Coalson, Jacqueline J.

    2014-01-01

    Much of the progress in improved neonatal care, particularly management of underdeveloped preterm lungs, has been aided by investigations of multiple animal models, including the neonatal baboon (Papio species). In this article we highlight how the preterm baboon model at both 140 and 125 days gestation (term equivalent 185 days) has advanced our understanding and management of the immature human infant with neonatal lung disease. Not only is the 125-day baboon model extremely relevant to the...

  10. Predictors of bronchopulmonary dysplasia and pulmonary hypertension in newborn children

    DEFF Research Database (Denmark)

    Ali, Zarqa; Peter, Schmidt; Dodd, James Keith;

    2013-01-01

    %. Infants with BPD differed significantly from infants without BPD with regard to the following characteristics: Infants with BPD more frequently had a lower gestational age and BW, intubation at birth, mechanical ventilation within 24 hours of birth, a lower ­Apgar score at one minute and five minutes...

  11. Cervical dysplasia

    Science.gov (United States)

    ... by your provider. Make sure to get the HPV vaccine when it is offered to you. This vaccine prevents many cervical cancers. ... Early diagnosis and prompt treatment cures most cases of cervical ... severe cervical dysplasia may change into cervical cancer.

  12. Incidence and Risk Factors of Bronchopulmonary Dysplasia in Very Low Birth Weight Preterm Infants%极低体质量早产儿支气管肺发育不良的发生率及其影响因素研究

    Institute of Scientific and Technical Information of China (English)

    李春杰; 肖志辉

    2015-01-01

    Objective To investigate the incidence of bronchopulmonary dysplasia( BPD)in very low birth weight preterm infants and its risk factors. Methods We selected 317 very low birth weight preterm infants that accorded with inclusion and exclusion criteria from the Department of Neonatology of Children's Hospital of Suzhou University between September,2010 and May,2014. We recorded BPD incidence and mortality within 28 days of included infants with different gestational age and birth weight. Among infants with survival time≥28 d,46 infants with BPD were assigned as BPD group;92 infants were randomly selected from the rest 205 infants without BPD as control group,with a ratio of 1∶2 between the two groups. Risk factors for BPD incidence in very low birth weight preterm infants were investigated. Results ( 1 ) For 317 included preterm infants, mortality within 28 days was 20. 8%( 66/317 ) . The incidence of BPD in infants with survival time≥28 d was 18. 3%( 46/251). Difference in BPD incidence among infants of different gestational age and birth weight was significant(P﹤0. 05). (2) Significant difference existed between BPD group and control group in number of infants with gestational age less than normal, Apgar score(5 min,﹤7),neonatal respiratory distress syndrome( NRDS),application of postnatal pulmonary surfactant ( PS),endotracheal intubation,mechanical ventilation( ﹥7 d),ventilator associated pneumonia( VAP)and neonatal anemia and blood transfusion( ﹥3 times) (P ﹤0.05). (3)Multivariable logistic regression analysis showed that mechanical ventilation( ﹥7 d),VAP,neonatal anemia and blood transfusion( ﹥3 times)had influence on BPD incidence of very low weight preterm infants(P﹤0. 05). Conclusion Very low birth weight preterm infants have high incidence of BPD. Risk factors include mechanical ventilation( ﹥7 d),VAP and blood transfusion( ﹥3 times).%目的:了解极低体质量早产儿支气管肺发育不良( BPD)的发生率,并探

  13. [Fibromuscular dysplasia].

    Science.gov (United States)

    Desbois, A C; Koskas, F; Cacoub, P

    2015-04-01

    Fibromuscular dysplasia is a segmentary, non-atherosclerotic, non-inflammatory vascular disease that may result in stenosis, occlusion, aneurysms or dissection of medium arteries. Renal involvement is the most frequent location, described in 60-100% of patients. Renal stenosis can be asymptomatic or complicated with arterial hypertension or less frequently with renal insufficiency. Carotid and vertebral involvements are less frequent (10-35%). Surgical management of fibromuscular dysplasia is now less common because of the better efficacy of percutaneous transluminal angioplasty. Thus, histologic characteristics are no longer relevant prognostic criteria. Clinical features and outcome vary according to angiographic presentation (focal or multifocal disease), with an increased recovery rate of hypertension with focal lesions. In the presence of renal fibromuscular dysplasia, only symptomatic patients are revascularized (recent or resistant hypertension) or patients with asymmetric renal size or impaired renal function. Transluminal angioplasty is the first-line treatment except for patients with complex lesions or stenosis associated with aneurysm. PMID:25455952

  14. Bronchopulmonary lophomoniasis: emerging disease or unsubstantiated legend?

    OpenAIRE

    Martínez-Girón, Rafael; van Woerden, Hugo Cornelis

    2014-01-01

    The relationship between Lophomonas, a genus of multiflagellated protozoa, and respiratory pathology has recently received attention. Here, we summarize the origin, mode of transmission, pathogenic mechanism and relevant clinical data of bronchopulmonary lophomoniasis.

  15. Putative Bronchopulmonary Flagellated Protozoa in Immunosuppressed Patients

    OpenAIRE

    Ali Ahmet Kilimcioglu; Yavuz Havlucu; Nogay Girginkardesler; Pınar Çelik; Kor Yereli; Ahmet Özbilgin

    2014-01-01

    Flagellated protozoa that cause bronchopulmonary symptoms in humans are commonly neglected. These protozoal forms which were presumed to be “flagellated protozoa” have been previously identified in immunosuppressed patients in a number of studies, but have not been certainly classified so far. Since no human cases of bronchopulmonary flagellated protozoa were reported from Turkey, we aimed to investigate these putative protozoa in immunosuppressed patients who are particularly at risk of infe...

  16. 肺表面活性物质蛋白B基因多态性与早产儿支气管肺发育不良的相关性%Association between surfactant protein B gene polymorphisms and susceptibility to bronchopulmonary dysplasia in preterm infant

    Institute of Scientific and Technical Information of China (English)

    卢维城; 向伟; 郑旭; 林静; 陈兴月; 魏海波

    2013-01-01

    Objective To investigate the distribution of surfactant protein B (SP-B) gene single nucleotide polymorphisms and to study the association between the SP-B gene polymorphisms and bronchopulmonary dysplasia (BPD) in preterm infant.Methods Forty-two preterm infants with BPD and 68 preterm infants without BPD (control group) were selected.Polymerase chain reaction with restriction fragment length polymorphism was used to establish the genotype and allele frequencies of the SP-B-18A/C,SP-B 1580C/T,SP-B 8714G/C single nucleotide the polymorphisms,and then the association between the polymorphisms and BPD was analyzed.Results The frequencies of genotype CC,AC,AA of SP-B-18A/C in BPD group and control group were 35.7%,52.4%,11.9% and 32.3%,47.7%,20.0%,respectively.The frequencies of genotype CC,GC,GG of SP-B 8714G/C in BPD group and the control group were 26.2%,54.8%,19.0% and 27.7%,58.5%,13.8%,respectively.The frequencies of genotype CC,CT,TT of SP-B 1580C/T in BPD group and control group were 66.7 %,26.2%,7.1% and 40.0%,47.7 %,12.3 %,respectively.The frequencies of allele C and allele A of SP-B-18A/C in BPD group and control group were 61.9%,38.1% and 56.2%,43.8%,respectively.The frequencies of allele G and allele C of SP-B 8714G/C in BPD group and control group were 53.6%,46.8% and 56.9%,43.1%,respectively.The frequencies of allele C and allele T of SP-B 1580C/T in BPD group and control group were 79.8%,20.2% and 63.8%,36.2%,respectively.SP-B-18A/C,SP-B 1580C/T,SP-B 8714G/C were found to be polymorphic.The frequencies of genotype CC of SP-B 1580C/T in BPD group were significantly higher than those in the controls (x2 =7.26,P < 0.05).The frequencies of allele C of SP-B 1580C/T were also statistically different between BPD group and control group(x2 =6.17,P <0.05).The C allele increased the risk of BPD(OR =2.23,95% CI:1.18-4.24).There was no significant difference between the 2 groups in the frequencies of

  17. Septo-Optic Dysplasia

    Science.gov (United States)

    ... Enhancing Diversity Find People About NINDS NINDS Septo-Optic Dysplasia Information Page Synonym(s): De Morsier's Syndrome Table ... being done? Clinical Trials Organizations What is Septo-Optic Dysplasia? Septo-optic dysplasia (SOD) is a rare ...

  18. Arrhythmogenic Right Ventricular Dysplasia

    Science.gov (United States)

    MENU Return to Web version Arrhythmogenic Right Ventricular Dysplasia Overview What is arrhythmogenic right ventricular dysplasia? Arrhythmogenic right ventricular dysplasia (say: “uh-rith-mo-jen-ic right ven-trick- ...

  19. Fibromuscular dysplasia

    OpenAIRE

    Jeunemaitre Xavier; Gimenez-Roqueplo Anne-Paule; Boutouyrie Pierre; Perdu Jérôme; La Batide-Alanore Agnès; Plouin Pierre-François

    2007-01-01

    Abstract Fibromuscular dysplasia (FMD), formerly called fibromuscular fibroplasia, is a group of nonatherosclerotic, noninflammatory arterial diseases that most commonly involve the renal and carotid arteries. The prevalence of symptomatic renal artery FMD is about 4/1000 and the prevalence of cervicocranial FMD is probably half that. Histological classification discriminates three main subtypes, intimal, medial and perimedial, which may be associated in a single patient. Angiographic classif...

  20. Communicating bronchopulmonary foregut malformation: a case report

    Energy Technology Data Exchange (ETDEWEB)

    Kim, Chang Yeol; Goo Hyun Woo; Kim, Hyun Joo; Choi, Soo Jung; Cho, Yong Soo; Lee, Jean Hwa; Yoon, Chong Hyun; Lim, Tae Hwan [Asan Medical Center, College of Medicine, University of Ulsan, Seoul (Korea, Republic of)

    2000-07-01

    Communicating bronchopulmonary foregut malformations are rare tracheobronchial anomalies characterized by a fistula between an isolated portion of respiratory tissue and the esophagus or stomach. We describe a case of CBFM in which chest radiography revealed total haziness in the right lung field. The diagnosis was confirmed by esophagography. (author)

  1. Communicating bronchopulmonary foregut malformation: a case report

    International Nuclear Information System (INIS)

    Communicating bronchopulmonary foregut malformations are rare tracheobronchial anomalies characterized by a fistula between an isolated portion of respiratory tissue and the esophagus or stomach. We describe a case of CBFM in which chest radiography revealed total haziness in the right lung field. The diagnosis was confirmed by esophagography. (author)

  2. Oculodentodigital dysplasia

    Directory of Open Access Journals (Sweden)

    Dharmil C Doshi

    2016-01-01

    Full Text Available Oculodentodigital dysplasia is a rare, autosomal dominant disorder with high penetrance and variable expressivity, caused by mutations in the connexin 43 or gap junction protein alpha-1 gene. It has been diagnosed in fewer than 300 people worldwide with an incidence of around 1 in 10 million. It affects many parts of the body, particularly eyes (oculo, teeth (dento, and fingers and/or toes (digital. The common clinical features include facial dysmorphism with thin nose, microphthalmia, syndactyly, tooth anomalies such as enamel hypoplasia, anodontia, microdontia, early tooth loss and conductive deafness. Other less common features are abnormalities of the skin and its appendages, such as brittle nails, sparse hair, and neurological abnormalities. To prevent this syndrome from being overlooked, awareness of possible symptoms is necessary. Early recognition can prevent blindness, dental problems and learning disabilities. Described here is the case of a 21-year-old male who presented to the ophthalmology outpatient department with a complaint of bilateral progressive loss of vision since childhood.

  3. Analysis of two cases with bronchopulmonary neurofibromatosis

    Directory of Open Access Journals (Sweden)

    Yuan Ting

    2012-07-01

    Full Text Available Abstract Neurogenic tumor of lung is very rare. Only few cases have been reported in the literature. We present here two cases of bronchopulmonary neurofibromatosis in two adults. In both cases, attempts at imaging failed to diagnose the case, and it was the histological study that ensured the diagnosis of neurofibromatosis. Biopsy specimens showed bundles of spindle-shaped cells mixed with collagen, and on immunohistochemistry some cells were positive for S-100 protein.

  4. Diagnosis and treatment of bronchopulmonary neuroendocrine tumours

    DEFF Research Database (Denmark)

    Tabaksblat, Elizaveta Mitkina; Langer, Seppo W; Knigge, Ulrich;

    2016-01-01

    Bronchopulmonary neuroendocrine tumours (BP-NET) are a heterogeneous population of neoplasms with different pathology, clinical behaviour and prognosis compared to the more common lung cancers. The management of BP-NET patients is largely based on studies with a low level of evidence and extrapol...... and extrapolation of data obtained from more common types of neuroendocrine tumours. This review reflects our view of the current state of the art of diagnosis and treatment of patients with BP-NET....

  5. Fibromuscular dysplasia

    Directory of Open Access Journals (Sweden)

    Jeunemaitre Xavier

    2007-06-01

    Full Text Available Abstract Fibromuscular dysplasia (FMD, formerly called fibromuscular fibroplasia, is a group of nonatherosclerotic, noninflammatory arterial diseases that most commonly involve the renal and carotid arteries. The prevalence of symptomatic renal artery FMD is about 4/1000 and the prevalence of cervicocranial FMD is probably half that. Histological classification discriminates three main subtypes, intimal, medial and perimedial, which may be associated in a single patient. Angiographic classification includes the multifocal type, with multiple stenoses and the 'string-of-beads' appearance that is related to medial FMD, and tubular and focal types, which are not clearly related to specific histological lesions. Renovascular hypertension is the most common manifestation of renal artery FMD. Multifocal stenoses with the 'string-of-beads' appearance are observed at angiography in more than 80% of cases, mostly in women aged between 30 and 50 years; they generally involve the middle and distal two-thirds of the main renal artery and in some case also renal artery branches. Cervicocranial FMD can be complicated by dissection with headache, Horner's syndrome or stroke, or can be associated with intracerebral aneurysms with a risk of subarachnoid or intracerebral hemorrhage. The etiology of FMD is unknown, although various hormonal and mechanical factors have been suggested. Subclinical lesions are found at arterial sites distant from the stenotic arteries, and this suggests that FMD is a systemic arterial disease. It appears to be familial in 10% of cases. Noninvasive diagnostic tests include, in increasing order of accuracy, ultrasonography, magnetic resonance angiography and computed tomography angiography. The gold standard for diagnosing FMD is catheter angiography, but this invasive procedure is only used for patients in whom it is clinically pertinent to proceed with revascularization during the same procedure. Differential diagnosis include

  6. Anaesthetic management of bilateral alveolar proteinosis for bronchopulmonary lavage.

    OpenAIRE

    Dixit R; Chaudhari L; Mahashur A

    1998-01-01

    The most hazardous manifestation of pulmonary alveolar proteinosis is progressive hypoxia for which bronchopulmonary lavage (BPL) is the single most effective treatment. Unfortunately this procedure under general anesthesia itself increases the risk of hypoxia due to the need for one lung ventilation. It was therefore considered interesting to report the successful anaesthetic management of a patient with pulmonary alveolar proteinosis for Bronchopulmonary lavage.

  7. Eosinophilic pleural effusion complicating allergic bronchopulmonary aspergillosis.

    Science.gov (United States)

    Kirschner, Austin N; Kuhlmann, Erica; Kuzniar, Tomasz J

    2011-01-01

    Allergic bronchopulmonary aspergillosis (ABPA) is primarily a disease of patients with cystic fibrosis or asthma, who typically present with bronchial obstruction, fever, malaise, and expectoration of mucus plugs. We report a case of a young man with a history of asthma who presented with cough, left-sided pleuritic chest pain and was found to have lobar atelectasis and an eosinophilic, empyematous pleural effusion. Bronchoscopy and sputum cultures grew Aspergillus fumigatus, and testing confirmed strong allergic response to this mold, all consistent with a diagnosis of ABPA. This novel and unique presentation of ABPA expands on the differential diagnosis of eosinophilic pleural effusions. PMID:21311176

  8. Arrhythmogenic right ventricular dysplasia

    OpenAIRE

    Bockeria O.L.; Lе T.G.

    2015-01-01

    Arrhythmogenic right ventricular dysplasia is a hereditary cardiomyopathy characterized by structural and functional disorders in the right ventricle, which results in ventricular arrhythmias. Arrhythmogenic right ventricular dysplasia is one of the important causes of sudden cardiac death in young people and athletes. Structural disorders in arrhythmogenic right ventricular dysplasia are associated with fibrosis and fatty infiltration of the right ventricular myocardium. These changes lead t...

  9. Significance of transforming growth factor-β1 and Krebs Von den lungen-6 in plasma and bronchoalveolar lav-age fluid in children with bronchopulmonary dysplasia premature%支气管肺发育不良患儿血浆及支气管肺泡灌洗液中TGF -β1和 KL -6水平变化的意义

    Institute of Scientific and Technical Information of China (English)

    黄勇; 郑青

    2014-01-01

    Objective To observe the levels of TGF -β1 and KL-6 in plasma of bronchopulmonary dysplasia ( BPD) children before mechanical ventilation , to research its correlation with BPD , and the significance of TGF -β1 and KL-6 in plasma and BALF in different mechanical ventilation periods .Methods Ninety premature infants were selected and divide into 3 groups:non-mechanical ventilation group (Group NMV, n=30), non-BPD mechanical ventilation group (Group MV, n=30), and BPD mechanical ventilation group (Group BPD, n=30).Meanwhile, 30 full-term in-fants were enrolled as control group (Group C).TCG-β1 and KL-6 in plasma and BALF were assessed using ELISA . Results Before mechanical ventilation , the plasma TGF-β1 level in BPD infants was significantly higher than those in Group MV, NMV and C (P0.05).At initial mechanical ventila-tion (1 hour), the TGF-βin BALF of BPD infants (200.5 ±63.8 μg/L) was higher than that in Group MV (137.5 ± 59.1 μg/L) , but with no significant difference .As the ventilation prolonged , the TGF-β1 and KL-6 in plasma and BALF in mechanical ventilation infants was increased; and significant changes in TGF -β1 nd KL-6 were observed in Group BPD since the 48th hour (P<0.01);while significant changes in TGF -β1 in plasma and BALF were not observed until the 48th and 72nd hour, respectively in Group MV (P<0.05), neither was the KL-6 in plasma until the 72nd(P<0.05).In different ventilation periods , TGF-β1 in plasma and BALF of BDP infants were significantly higher than those in is higher than those in non -BDP infants (P<0.05).No significant elevation in KL -6 was observed in BDP infants until the 48th hour (P<0.05).The correlation regression equation of TGF -β1 in plasma and BALF was Y=0.772 3X+10.664, with significant correlation (r=0.853, P<0.01).The correlation regression equation of KL -6 in plasma and BALF was Y=0.986 3X-16.195, with significant correlation (r=0.937, P<0.01).Conclusion High TGF-β1 in BALF before ventilation and at

  10. Anaesthetic management of bilateral alveolar proteinosis for bronchopulmonary lavage.

    Directory of Open Access Journals (Sweden)

    Dixit R

    1998-01-01

    Full Text Available The most hazardous manifestation of pulmonary alveolar proteinosis is progressive hypoxia for which bronchopulmonary lavage (BPL is the single most effective treatment. Unfortunately this procedure under general anesthesia itself increases the risk of hypoxia due to the need for one lung ventilation. It was therefore considered interesting to report the successful anaesthetic management of a patient with pulmonary alveolar proteinosis for Bronchopulmonary lavage.

  11. Dysplasia epiphysealis capitis femoris. Meyer dysplasia

    Directory of Open Access Journals (Sweden)

    Enrique Vergara-Amador

    2011-01-01

    Full Text Available Introduction: Epiphyseal dysplasia of the femoral head (EDFH is defined as an alteration in the development of the child’s hip, characterized by delayed ossification of the proximal femoral epiphysis. Methods: Herein, we present six cases of epiphyseal dysplasia of the femoral head (EDFH, seen by the principal author (EVA within the last six years with minimum follow up at 15 months. Results: The cases were all diagnosed as casual findings. None of the children had symptoms or clinical signs in the hip, only one had a history of hip pain for five days, two months prior, which was diagnosed at the time as transient synovitis. Discussion: Among the differential diagnoses, the main one is Perthes disease, which is differentiated by several parameters like earlier age onset for EDFH (in children below 4 years of age, bilateralism (50% vs. 10%, and a calmer presentation in Meyer’s dysplasia. The evolution in Meyer’s dysplasia is toward improving radiographic changes. None of the patients revealed incongruence of the hip or early degenerative changes, indicating an excellent prognosis. Many authors think it is a variant of the normal ossification of the femoral head.

  12. Polyostotic fibrous dysplasia

    International Nuclear Information System (INIS)

    Fibrous dysplasia is a benign fibro-osseous condition that is replacement of normal bone and marrow tissues by cellular fibrous tissue and immature bone, and it is divided into monostotic type and polyostotic type. Polyostotic fibrous dysplasia involves multiple bones, such as skull, jaw bones, femur and tibia. And it is also divided into two forms: the less severe Jaffe's type and the more severe Albright's syndrome. Clinically, it frequently occurs in the 2nd decade, and occurs more frequently in maxilla than in mandible. And the lesions of fibrous dysplasia tend to become static as skeletal maturity is reached. The authors experienced three cases of polyostosic fibrous dysplasia in the craniofacial area with the complaints of facial asymmetry due to painless swelling. And we discussed the clinical, radiological, and histopathological features of these cases with a brief review of the literatures.

  13. Polyostotic fibrous dysplasia

    Energy Technology Data Exchange (ETDEWEB)

    Lee, Kang Sook; Park, Sang Eok; Choi, Karp Shik [Dept. of Dental Radiology, College of Dentistry, Kyungpook National University, Daegu (Korea, Republic of)

    1994-02-15

    Fibrous dysplasia is a benign fibro-osseous condition that is replacement of normal bone and marrow tissues by cellular fibrous tissue and immature bone, and it is divided into monostotic type and polyostotic type. Polyostotic fibrous dysplasia involves multiple bones, such as skull, jaw bones, femur and tibia. And it is also divided into two forms: the less severe Jaffe's type and the more severe Albright's syndrome. Clinically, it frequently occurs in the 2nd decade, and occurs more frequently in maxilla than in mandible. And the lesions of fibrous dysplasia tend to become static as skeletal maturity is reached. The authors experienced three cases of polyostosic fibrous dysplasia in the craniofacial area with the complaints of facial asymmetry due to painless swelling. And we discussed the clinical, radiological, and histopathological features of these cases with a brief review of the literatures.

  14. Craniofacial fibrous dysplasia

    Directory of Open Access Journals (Sweden)

    Aakarsh Jhamb

    2012-01-01

    Full Text Available Fibrous dysplasia can present clinically in varied forms which may appear as collision of different pathologic processes. We report a rare case of craniofacial fibrous dysplasia with coexisting epithelial lined cyst and superimposed osteomyelitis with sequestrum formation. Its clinical features and management with possible hypotheses are described along with the post operative course. Pertinent literature has been reviewed with emphasis on pathogenesis of this unique occurrence.

  15. Gracile bone dysplasias

    Energy Technology Data Exchange (ETDEWEB)

    Kozlowski, Kazimierz [Department of Medical Imaging, The Children' s Hospital at Westmead, Locked Bag 4001, Westmead 2145, NSW (Australia); Masel, John [Department of Radiology, Royal Children' s Hospital, Brisbane (Australia); Sillence, David O. [Department of Paediatrics and Child Health, The University of Sydney (Australia); Arbuckle, Susan [Department of Anatomical Pathology, The Children' s Hospital at Westmead, NSW (Australia); Juttnerova, Vera [Oddeleni Lekarske Genetiky, Hradec Kralove (Czech Republic)

    2002-09-01

    Gracile bone dysplasias constitute a group of disorders characterised by extremely slender bones with or without fractures. We report four newborns, two of whom showed multiple fractures. Two babies had osteocraniostenosis and one had features of oligohydramnios sequence. The diagnosis in the fourth newborn, which showed thin long bones and clavicles and extremely thin, poorly ossified ribs, is uncertain. Exact diagnosis of a gracile bone dysplasia is important for genetic counselling and medico-legal reasons. (orig.)

  16. Histiocytosis X and Bronchopulmonary Adenocarcinoma: A Rare Coexistence

    Directory of Open Access Journals (Sweden)

    Akýn Kaya

    2002-01-01

    Full Text Available There exists a rarely observed association between pulmonary histiocytosis X and bronchopulmonary cancer. However, the frequency of bronchopulmonary cancer in these patients is higher than in the general population. A 28-year-old patient who currently smokes ten packs of cigarettes a year came to our department of pneumology with complains of cough and hemoptysis. An x-ray of the thorax revealed bilateral cysts and a shadow in the upper part of the right pulmonary field. In addition, a chest tomography showed multiple cysts dispersed throughout the two pulmonary fields and an irregular mass with a diameter of four centimetres in the upper right lobe. Bronchopulmonary adenocarcinoma was diagnosed during a cytologic exam of the bronchial washing. We decided to perform a thoracotomy on the patient, since there was no far metastasis. An upper lobectomy and wedge resection of the upper segment of the lower right lobe, which had been invaded by the tumour, were performed. Histology confirmed the diagnosis of adenocarcinoma. A pulmonary biopsy was carried out on the tumour-free site and showed the presence of histiocytosis X. There is a hypothesis that a neoplasm developed on the pulmonary fibrosis could be an epiphenomenon of bronchopulmonary cancer in patients who smoke and have pulmonary histiocytosis X. It is interesting to note that histiocytosis X and bronchopulmonary cancer were diagnosed at the same time, since the bronchopulmonary cancer may have occurred within a few years following the diagnosis of histiocytosis X, even if she was a smoker. Hemoptysis, which is found in 5% of patients with histiocytosis X, may suggest cancer. This young patient, a smoker, who complained of hemoptysis, is a particularly rare case of the association between pulmonary histiocytosis X and bronchopulmonary cancer whose pathogenesis is not clear cut. It is thus important to note that smoking can have major consequences, even in young people.

  17. Immunopathology and Immunogenetics of Allergic Bronchopulmonary Aspergillosis

    Directory of Open Access Journals (Sweden)

    Alan P. Knutsen

    2011-01-01

    Full Text Available Allergic bronchopulmonary aspergillosis (ABPA is a Th2 hypersensitivity lung disease in response to Aspergillus fumigatus that affects asthmatic and cystic fibrosis (CF patients. Sensitization to A. fumigatus is common in both atopic asthmatic and CF patients, yet only 1%–2% of asthmatic and 7%–9% of CF patients develop ABPA. ABPA is characterized by wheezing and pulmonary infiltrates which may lead to pulmonary fibrosis and/or bronchiectasis. The inflammatory response is characterized by Th2 responses to Aspergillus allergens, increased serum IgE, and eosinophilia. A number of genetic risks have recently been identified in the development of ABPA. These include HLA-DR and HLA-DQ, IL-4 receptor alpha chain (IL-4RA polymorphisms, IL-10 −1082GA promoter polymorphisms, surfactant protein A2 (SP-A2 polymorphisms, and cystic fibrosis transmembrane conductance regulator gene (CFTR mutations. The studies indicate that ABPA patients are genetically at risk to develop skewed and heightened Th2 responses to A. fumigatus antigens. These genetic risk studies and their consequences of elevated biologic markers may aid in identifying asthmatic and CF patients who are at risk to the development of ABPA. Furthermore, these studies suggest that immune modulation with medications such as anti-IgE, anti-IL-4, and/or IL-13 monoclonal antibodies may be helpful in the treatment of ABPA.

  18. Renal dysplasia: US findings

    Energy Technology Data Exchange (ETDEWEB)

    Ha, Doo Hoe; Oh, Ki Keun; Jung, Woo Hee; Yoon, Choon Sik; Ahn, Chang Soo; Kim, Myung Joon [Yonsei University College of Medicine, Seoul (Korea, Republic of)

    1993-12-15

    Renal dysplasia is a congenital anomaly with abnormal development of nephrotic and ductal structure and untreatable disease with absent renal function. To determine whether any consistent sonographic patterns exists,the sonograms of 27 pediatric patients with mastocytosis despotically kidney were reviewed. The diagnosis was proved by pathology in 16 cases and other radiologic imaging in 11 cases. In the classical multicystic despotically kidney(pelvoinfundibular atresia type, 10 cases), there were typical findings, such as absent communication between peripherally located variable sized cysts and presence of the largest cyst away from the renal hilum. One case was associated contralateral renal hydronephrosis. There cases were hydro nephrotic type which had medial location of the largest cyst with non communicating peripheral cysts. Segmental dysplasia with double collecting system and ureterocele (5 cases) and dysplasia due to parasite urethral valve (2 cases) showed hydronephrosis without identifiable peripheral cysts. Among the hypoplastic dysplastic kidney (7 cases) including ectopic kidneys (3cases), corticomedullary differentiation were hard to be identified in 2 cases. In conclusion, diagnosis of the renal dysplasia can be obtained by US only or US with other functional studies such as radionuclide scan(99mTc-DMSA or renogram) and IVP. US detection of renal dysplasia is easy, and US findings provide valuable information in the subsequent management

  19. TREATMENT OF HIP DYSPLASIA

    Directory of Open Access Journals (Sweden)

    Iulian ICLEANU

    2015-11-01

    Full Text Available In this thesis, our purpose is to show that using physiotherapy on patients with hip dysplasia from the very beginning, in the first months of life, helps treating them faster. Common literature proposes to use physiotherapy on patients with hip dysplasia either after their recovery or in the terminal phase of recovery, claiming that any earlier intervention will prolong the hip recovery. The effects of hip dysplasia reflect over the whole musculoskeletal system, while it hinders the knees (genu valgum, the ankles (ankle valgus, calcaneal valgus and the spine (scoliosis especially at the lumbar level. The most spectacular are at the hip level, that is why we made an analytical evaluation only for this joint. To show the importance of physiotherapy for children with hip dysplasia we started from the hypothesis: untimely treatment for children with hip dysplasia has improved results in functional recovery and in obtaining a better stability, without the necessity of orthopedics or surgical interventions. The research methods used in this study are: the observation method, the bibliographic study method, the experimental method, the graphics method and the statistical mathematical method to process the data and to represent the results graphically. In the end, the results obtained are significantly different from the initial evaluations and we came to the conclusion that starting an untimely analytical kinetic treatment and globally personalizing it to every patient improves stability and biomechanical parameters for the hip.

  20. Gambaran Radiografi Dari Dentin Dysplasia

    OpenAIRE

    Sipayung, Andrew Naro Mario

    2011-01-01

    Dentin dysplasia merupakan salah satu penyakit kelainan herediter secara autosomal dominan pada dentin. Menurut Shields Prevalensi individu yang terjadi pada kasus ini perbandingannya 1:100.000. Secara klinis gambaran dentin dysplasia terlihat normal dan ada perubahan warna gigi yang kekuning-kuningan. Secara radiografi dentin dysplasia tipe I terlihat kelainan perkembangan pada akar dengan hampir tidak ada pembentukan akar sama sekali. Dentin dysplasia tipe II terlihat kelainan perkemban...

  1. CONSERVATIVE TREATMENT OF HIP DYSPLASIA

    OpenAIRE

    Mikhail Mikhailovich Kamosko; Mahmoud Stanislavovich Poznovich

    2014-01-01

    Hip dysplasia in children is the subject of careful study by specialists both in our country and abroad. There are three basic variants of hip dysplasia: congenital acetabular dysplasia, congenital subluxation of the hip and congenital dislocation of the hip. However, treatment of congenital dislocation of the hip, which is the most severe form of hip dysplasia in children, currently remains one of the topical problems of children’s orthopedics, despite the significant achievements of modern ...

  2. Allergic Bronchopulmonary Aspergillosis: A Perplexing Clinical Entity.

    Science.gov (United States)

    Shah, Ashok; Panjabi, Chandramani

    2016-07-01

    In susceptible individuals, inhalation of Aspergillus spores can affect the respiratory tract in many ways. These spores get trapped in the viscid sputum of asthmatic subjects which triggers a cascade of inflammatory reactions that can result in Aspergillus-induced asthma, allergic bronchopulmonary aspergillosis (ABPA), and allergic Aspergillus sinusitis (AAS). An immunologically mediated disease, ABPA, occurs predominantly in patients with asthma and cystic fibrosis (CF). A set of criteria, which is still evolving, is required for diagnosis. Imaging plays a compelling role in the diagnosis and monitoring of the disease. Demonstration of central bronchiectasis with normal tapering bronchi is still considered pathognomonic in patients without CF. Elevated serum IgE levels and Aspergillus-specific IgE and/or IgG are also vital for the diagnosis. Mucoid impaction occurring in the paranasal sinuses results in AAS, which also requires a set of diagnostic criteria. Demonstration of fungal elements in sinus material is the hallmark of AAS. In spite of similar histopathologic features, co-existence of ABPA and AAS is still uncommon. Oral corticosteroids continue to be the mainstay of management of allergic aspergillosis. Antifungal agents play an adjunctive role in ABPA as they help reduce the fungal load. Saprophytic colonization in cavitary ABPA may lead to aspergilloma formation, which could increase the severity of the disease. The presence of ABPA, AAS, and aspergilloma in the same patient has also been documented. All patients with Aspergillus-sensitized asthma must be screened for ABPA, and AAS should always be looked for. PMID:27126721

  3. Bronchoplasty for Primary Broncho-Pulmonary Tumors

    International Nuclear Information System (INIS)

    Parenchyma-sparing procedures are widely used in patients with low-grade malignancies of the airway when anatomically suited lesions exist. This study was conducted to evaluate the short-term and the long-term results of bronchoplastic procedures for patients with centrally located primary bronchopulmonary tumors. Methods: Between 2000 and 2009, 36 patients with primary lung tumors required bronchoplasty were retrospectively analyzed. Preoperative assessment included computed tomography (CT) of the chest, bronchoscopy, and spirometry. Pre operative diagnosis was achieved by bronchoscopy for all patients, mediastinoscopy was done for patients with primary lung cancer. Neo adjuvant chemotherapy was given for 6 patients with non small cell lung cancer (NSCLC). Results: We had 15 males and 21 female, the mean age was 37 years and the mean hospital stay was 7.2 days. Operative procedures performed were:Sleeve lobectomy in 30 patients (13 right, 17 left), partial sleeve right pneumonectomy in 3 and bronchial resection with re-anastomosis in 3 (2 left, 1 right). Twelve patients (33.3%) suffered post-operative problems. There was one operative related mortality. Post operative pathology revealed: 27 patients with typical carcinoid, 2 with atypical carcinoid, 4 with squamous cell carcinoma, 2 with adenocarcifioma and one with hamartoma. Pathological TNM staging revealed: 17 patients with stage 1A, 11 with IB, 5 with IIA and 2 with stage IIIA. Follow-up data were available for all patients except two. Two patients died with disseminated disease 1.5 year and 2 years after surgery. The patient with hamartoma developed local recurrence 5 years later and re-excision was done. One patient with lung cancer developed bone metastases and was alive with disease, while the remaining 30 patient's were alive and disease free. The overall 5 years survival was 83.3%. Conclusion: Bronchoplastic resections achieve local control and long-term survival comparable to the standard resections in

  4. Intraerythrocyte Non-Protein-Bound Iron in Children with Bronchopulmonary Pathology

    Directory of Open Access Journals (Sweden)

    E.M. Vasilyeva

    2014-12-01

    Full Text Available A total of 230 children having bronchopulmonary pathology (BPP were examined. Patients were divided into 4 groups according to their intraerythrocyte non-protein- bound iron (IE-NPBI levels. We investigated the relationship of the IE-NPBI level with parameters of respiratory function (RF tests, the severity of comorbidities, and level of other free intracellular ions, such as copper, zinc, and magnesium. The pronounced increase in IE-NPBI level was typical for patients with the connective tissue dysplasia, often accompanied by mitral valve prolapse, osteopenia, and mineral metabolism violation. The severe comorbid diagnoses were typical for patients with reduced levels of IE-NPBI (chronic cor pulmonale, tuberculosis infection. The largest number of comorbidities, aggravating the underlying disease, took place in the group of patients with a significant reduction in IE-NPBI level. A significant increase in IE-NPBI level, as well as a marked reduction of IE-NPBI level, was an unfavorable factor for the underlying disease. We found a correlation between IE-NPBI level and parameters of RF-test in patients with moderate increase in IE-NPBI level.

  5. CONSERVATIVE TREATMENT OF HIP DYSPLASIA

    Directory of Open Access Journals (Sweden)

    Михаил Михайлович Камоско

    2014-12-01

    Full Text Available Hip dysplasia in children is the subject of careful study by specialists both in our country and abroad. There are three basic variants of hip dysplasia: congenital acetabular dysplasia, congenital subluxation of the hip and congenital dislocation of the hip. However, treatment of congenital dislocation of the hip, which is the most severe form of hip dysplasia in children, currently remains one of the topical problems of children’s orthopedics, despite the significant achievements of modern medicine. In spite of the large amount of research in this field, treatment principles of hip dysplasia are still under discussion.

  6. Diagnosis of allergic bronchopulmonary aspergillosis (ABPA) in cystic fibrosis

    DEFF Research Database (Denmark)

    Skov, M; Koch, C; Reimert, C M;

    2000-01-01

    The diagnosis of allergic bronchopulmonary aspergillosis (ABPA) in cystic fibrosis (CF) patients may be difficult to establish because ABPA shares many characteristics with coexisting atopy or other lung infections in these patients. This study aimed to evaluate the sensitivity and specificity...

  7. Algorithm of rehabilitation examination of children with bronchopulmonary diseases

    Directory of Open Access Journals (Sweden)

    Nataliya Ivasyk

    2016-08-01

    Full Text Available Purpose: to develop the algorithm of rehabilitation examination for children with bronchopulmonary diseases. Material & Methods: analysis, generalization, systematization and comparison of data of scientific and methodical literature on problems of physical rehabilitation at bronchopulmonary diseases. Results: the offered algorithm of rehabilitation examination of children with bronchopulmonary diseases provides the consecutive application of such methods as: poll, physical examination, functional examination and method of indexes, which analysis allows defining the rehabilitation diagnosis, which is the basis of technology of the rehabilitation process. Conclusions: rehabilitation examination is the compound of physical rehabilitation which is carried out for the purpose of definition of the rehabilitation diagnosis and is based on subjective, objective assessments and data of supervision. The consecutive carrying out of the complex rehabilitation examination on the offered algorithm and the detailed analysis of its results will promote the determination of rehabilitation potential, the reasons of violations from various systems of organism and individualization of the rehabilitation process of children with bronchopulmonary diseases.

  8. Segmental odontomaxillary dysplasia: clinical, radiological and histological aspects of four cases

    DEFF Research Database (Denmark)

    Becktor, K.B.; Reibel, J.; Vedel, B.;

    2002-01-01

    Segmental odontomaxillary dysplasia, hemimaxillofacial dysplasia, histological and radiological findings......Segmental odontomaxillary dysplasia, hemimaxillofacial dysplasia, histological and radiological findings...

  9. Canine Hip Dysplasia: Breed Effects

    OpenAIRE

    Martin, S W; Kirby, K.; Pennock, P W

    1980-01-01

    This paper is a refinement of previous studies in that only suitably radiographed dogs were included in the data base. The rate of hip dysplasia varied widely by breed from five percent in siberian huskies to eighty-three percent in english bulldogs. There was a significant difference in the prevalence of dysplasia within at least two breeds; golden retrievers and old english sheepdogs. Physical size per se did not appear to be an important determinant of hip dysplasia.

  10. Thanatophoric dysplasia: A review.

    Science.gov (United States)

    Wainwright, H

    2016-06-01

    Thanatophoric dysplasia is a well-known cause of potentially lethal short-limbed dwarfism in the newborn. The diagnosis is usually made by the recognition of characteristic radiological changes and confirmed at autopsy by demonstration of specific morphological and histological changes in the brain. This review is based upon the author's personal experience and archived data of 19 cases and concerns the clinical and radiographic manifestations, autopsy findings, molecular pathogenesis and the approach to antenatal diagnosis. PMID:27245526

  11. Arrhythmogenic right ventricular dysplasia

    Directory of Open Access Journals (Sweden)

    Bockeria O.L.

    2015-06-01

    Full Text Available Arrhythmogenic right ventricular dysplasia is a hereditary cardiomyopathy characterized by structural and functional disorders in the right ventricle, which results in ventricular arrhythmias. Arrhythmogenic right ventricular dysplasia is one of the important causes of sudden cardiac death in young people and athletes. Structural disorders in arrhythmogenic right ventricular dysplasia are associated with fibrosis and fatty infiltration of the right ventricular myocardium. These changes lead to progressive dilatation and dysfunction of the right ventricle, as well as the occurrence of life-threatening ventricular arrhythmias.In 2010 The Task Force corrected the diagnostic criteria of the condition, which include large and small criteria from 6 different categories to make the diagnosis more accurate. ECG, EchoCG, MRI of the heart as well as myocardial biopsy play an important role in the diagnosis of the disease. Prognosis of the disease often depends on the timely prevention of sudden cardiac death – the implantation ofa cardioverter-defibrillator and optimal drug therapy of the symptomatic heart failure.

  12. Spectrum of bronchopulmonary anomalies associated with tracheoesophageal malformations

    Energy Technology Data Exchange (ETDEWEB)

    Benson, J.E.; Fletcher, B.D.; Olsen, M.

    1985-09-01

    The combination of tracheoesophageal and pulmonary malformations is unusual and reportedly carries a high mortality. We have observed six patients with esophageal atresia and tracheoesophageal fistula and one with a bronchoesophageal fistula who had associated bronchopulmonary anomalies ranging from lobar hypoplasia and agenesis to unilateral pulmonary hypoplasia or agenesis. All of the pulmonary malformations were right-sided. Vertebral or rib anomalies were present in five patients, congenital heart disease in two, imperforate anus in one and one patient had radial aplasia and Pierre Robin syndrome. The bronchopulmonary anomalies complicated the surgical care of tracheoesophageal malformations and required radiologic differentiation from aspiration pneumonia and atelectasis. Six of the seven patients survived. Mortality and morbidity were related to complications and associated cardiac anomalies as well as severity of the lung anomaly.

  13. Childhood allergic bronchopulmonary aspergillosis presenting as a middle lobe syndrome

    OpenAIRE

    Shah, Ashok; Gera, Kamal; Panjabi, Chandramani

    2016-01-01

    Allergic bronchopulmonary aspergillosis (ABPA) is infrequently documented in children with asthma. Although collapse is not uncommon, middle lobe syndrome (MLS) as a presentation of ABPA is rather a rarity. A 9-year-old female child with asthma presented with increase in intensity of symptoms along with a right midzone patchy consolidation on a chest radiograph. In addition, an ill-defined opacity abutting the right cardiac border with loss of cardiac silhouette was noted. A right lateral vie...

  14. Two cases of broncho-pulmonary foregut malformations

    OpenAIRE

    Εleftherios D. Spartalis; Elias Lachanas; Dionisios Pavlopoulos; Othonas P. Michail; Anna Karakatsani; Perikles Tomos

    2009-01-01

    SUMMARY. Congenital broncho-pulmonary malformations are mostly asymptomatic. They are diagnosed during the investigation of a pulmonary infection or after a chest x-ray. Fetal ultrasound, chest x-ray, ventilation-perfusion scan, CT, MRI, barium meal, esophagoscopy, bronchoscopy and digital angiography can be used for further investigation. Surgical excision was our treatment of choice and had a significally good prognosis. Pneumon 2009; 22(2):178–185.

  15. Two cases of broncho-pulmonary foregut malformations

    Directory of Open Access Journals (Sweden)

    Εleftherios D. Spartalis

    2009-01-01

    Full Text Available SUMMARY. Congenital broncho-pulmonary malformations are mostly asymptomatic. They are diagnosed during the investigation of a pulmonary infection or after a chest x-ray. Fetal ultrasound, chest x-ray, ventilation-perfusion scan, CT, MRI, barium meal, esophagoscopy, bronchoscopy and digital angiography can be used for further investigation. Surgical excision was our treatment of choice and had a significally good prognosis. Pneumon 2009; 22(2:178–185.

  16. Alveolar proteinosis and nocardiosis: a patient treated by bronchopulmonary lavage.

    OpenAIRE

    Pascual, J.; Gómez Aguinaga, M. A.; Vidal, R; Maudes, A.; Sureda, A.; Gómez Mampaso, E.; Fogué, L.

    1989-01-01

    Alveolar proteinosis is a relatively rare disease of unclear pathogenesis associated with opportunistic-infections. Although nocardiosis is the most frequent one, only 22 cases have been reported previously and are reviewed here. We present a patient with alveolar proteinosis with nocardiosis treated as an emergency with bilateral bronchopulmonary lavage and antibiotics. No previous cases of this association have been successfully managed in this way.

  17. Allergic bronchopulmonary aspergillosis complicating cystic fibrosis in childhood.

    OpenAIRE

    Brueton, M. J.; Ormerod, L P; Shah, K J; Anderson, C. M.

    1980-01-01

    Allergic bronchopulmonary aspergillosis, known to be associated with cystic fibrosis in older patients, occurred in 7 young atopic children with cystic fibrosis. The diagnosis was suggested by the onset of, or the increase in, asthmatic symptoms accompanied by major chest x-ray changes ranging from total collapse of a lung or lobe to extensive but changing areas of consolidation. Each of the children had a blood eosinophilia, positive type I skin tests to Aspergillus fumigatus, and reversible...

  18. Fibrous dysplasia and cherubism.

    Science.gov (United States)

    Bhattacharya, Surajit; Mishra, R K

    2015-01-01

    Fibrous dysplasia (FD) is a non-malignant fibro-osseous bony lesion in which the involved bone/bones gradually get converted into expanding cystic and fibrous tissue. The underlying defect in FD is post-natal mutation of GNAS1 gene, which leads to the proliferation and activation of undifferentiated mesenchymal cells arresting the bone development in woven phase and ultimately converting them into fibro-osseous cystic tissue. Cherubism is a hereditary form of fibrous dysplasia in which the causative factor is transmission of autosomal dominant SH3BP2 gene mutation. The disease may present in two distinct forms, a less severe and limited monostotic form, and a more aggressive and more widespread polyostotic form. Polyostotic form may be associated with various endocrine abnormalities, which require active management apart from the management of FD. Management of FD is not free from controversies. While total surgical excision of the involved area and reconstruction using newer micro-vascular technique is the only definitive treatment available from the curative point of view, but this can be only offered to monostotic and very few polyostotic lesions. In polyostotic varieties on many occasions these radical surgeries are very deforming in these slow growing lesions and so their indication is highly debated. The treatment of cranio-facial fibrous dysplasia should be highly individualized, depending on the fact that the clinical behavior of lesion is variable at various ages and in individual patients. A more conservative approach in the form of aesthetic recontouring of deformed bone, orthodontic occlusal correction, and watchful expectancy may be the more accepted form of treatment in young patients. Newer generation real-time imaging guidance during recontouring surgery adds to accuracy and safety of these procedures. Regular clinical and radiological follow up is required to watch for quiescence, regression or reactivation of the disease process. Patients must be

  19. Arrhythmogenic right ventricular dysplasia

    International Nuclear Information System (INIS)

    The arrhythmogenic right ventricular dysplasia is a condition predominantly well defined with arrhythmic events. We analyze three cases diagnosed by the group. These cases were presented as ventricular tachycardia with a morphology of left bundle branch block, presenting one of them aborted sudden death in evolution. The baseline electrocardiogram and signal averaging were abnormal in two of the three cases, like the echocardiogram. The electrophysiological study was able to induce in the three patients with sustained monomorphic ventricular tachycardia morphology of left bundle branch block. The definitive diagnosis was made by right ventriculography in two cases and magnetic resonance imaging in the other. Treatment included antiarrhythmic drugs in the three cases and the placement of an automatic defibrillator which survived a sudden death (Author)

  20. Allergic bronchopulmonary aspergillosis: a unique presentation in a pediatric patient

    Energy Technology Data Exchange (ETDEWEB)

    Huppmann, Michael V.; Monson, Matthew [Walter Reed Army Medical Center, Department of Radiology, Washington, DC (United States)

    2008-08-15

    Infection by the Aspergillus species of fungus can result in a variety of clinically and radiographically unique pulmonary diseases. The specific disease manifested is most dependent upon the immunocompetency of the infected individual. Allergic bronchopulmonary aspergillosis (ABPA) is most commonly seen in patients with asthma and cystic fibrosis. Since its original description in 1952, much has been published describing the radiographic manifestations of this disease. In this article, we present the unusual case of a 13-year-old whose initial radiographic presentation was that of a dense lobar consolidation. Additionally, we highlight the contributory role of the radiologist in guiding the appropriate clinical work-up and treatment of this disease. (orig.)

  1. A complex communicating bronchopulmonary foregut malformation: diagnostic imaging and pathogenesis

    Energy Technology Data Exchange (ETDEWEB)

    Sumner, T.E.; Auringer, S.T.; Cox, T.D. [Department of Radiology, Bowman Gray School of Medicine, Wake Forest University, Medical Center Boulevard, Winston-Salem, NC 27157-1088 (United States)

    1997-10-01

    We report a newborn with an esophageal lung, a rare type of communicating bronchopulmonary foregut malformation (CBPFM). Associated findings included esophageal atresia, tracheoesophageal fistula (TEF) to the distal esophagus, duodenal stenosis with annular pancreas, imperforate anus, vertebral anomalies and ambiguous genitalia. Radiologic evaluation included chest radiographs, esophagrams, chest ultrasound and chest CT. After colostomy and surgical repair of duodenal stenosis and TEF, a right thoracotomy was performed to treat an esophageal lung. Radiologic features of this unusual variant of CBPFM are presented. Accurate preoperative imaging diagnosis is essential for planning surgical treatment of an esophageal lung. (orig.). With 1 fig.

  2. Esophageal lung – A rare bronchopulmonary foregut malformation

    Directory of Open Access Journals (Sweden)

    S.V. Parelkar

    2014-11-01

    Full Text Available Esophageal lung is a rare variety of communicating bronchopulmonary foregut malformation characterized by a fistula between an isolated portion of respiratory tissue and esophagus or stomach. It may involve the entire lung or one of the pulmonary lobes. Only 20 cases have been reviewed in 2011. Fifty percent of cases are associated with a tracheoesophageal fistula. We report a case of a 6 month old girl who was previously operated for TEF repair, with esophageal lobe which was successfully excised. The relevant literature is reviewed.

  3. Defining dysplasia in Barrett esophagus.

    Science.gov (United States)

    Robert, Marie E

    2003-01-01

    Histologic grading of esophageal biopsies remains the cornerstone of management in patients with Barrett esophagus. This remains true despite ongoing research into the genetic abnormalities that occur in the setting of intestinal metaplasia, dysplasia, and adenocarcinoma of the esophagus. As of this writing, there are no objective tests that can replace the pathologist's eyes in predicting prognosis in this setting. However, pathologists and clinicians are well aware that the histologic interpretation of biopsies is an inherently subjective practice. The validity of this exercise depends entirely on the experience of the pathologist. Having said that, two interobserver studies on the grading of dysplasia in Barrett esophagus suggest that, if published criteria are adhered to, the histologic grading of dysplasia is a useful tool in patient management. In this review, the updated pathologic criteria for each category of dysplasia are presented, and the results of two large interobserver variability studies are reviewed.

  4. Oral epithelial dysplasia classification systems

    DEFF Research Database (Denmark)

    Warnakulasuriya, S; Reibel, J; Bouquot, J;

    2008-01-01

    At a workshop coordinated by the WHO Collaborating Centre for Oral Cancer and Precancer in the United Kingdom issues related to potentially malignant disorders of the oral cavity were discussed by an expert group. The consensus views of the Working Group are presented in a series of papers....... In this report, we review the oral epithelial dysplasia classification systems. The three classification schemes [oral epithelial dysplasia scoring system, squamous intraepithelial neoplasia and Ljubljana classification] were presented and the Working Group recommended epithelial dysplasia grading for routine...... use. Although most oral pathologists possibly recognize and accept the criteria for grading epithelial dysplasia, firstly based on architectural features and then of cytology, there is great variability in their interpretation of the presence, degree and significance of the individual criteria...

  5. Ectodermal dysplasia with true anodontia

    Directory of Open Access Journals (Sweden)

    Madhu Bala

    2011-01-01

    Full Text Available The hereditary condition known as ectodermal dysplasia is characterized by the absence or defect of two or more ectodermally derived structures. The most commonly observed forms of ectodermal dysplasia are the hidrotic and hypohidrotic types; discrimination is based on the absence or presence of sweat glands. A case of 8-year-old male child with hypohidrotic ectodermal dysplasia with complete anodontia of primary as well as secondary dentitions is presented. The child had a short stature, low intelligent quotient (I.Q.,, and was underweight. The patient experienced episodes of high fever, was intolerant to heat, and did not sweat. He exhibited smooth and dry skin, sparse light-colored eyebrows. Dental clinicians can be the first to diagnose ectodermal dysplasia due to the absence of teeth.

  6. Pediatric aspects of skeletal dysplasia.

    Science.gov (United States)

    Ozono, Keiichi; Namba, Noriyuki; Kubota, Takuo; Kitaoka, Taichi; Miura, Kohji; Ohata, Yasuhisa; Fujiwara, Makoto; Miyoshi, Yoko; Michigami, Toshimi

    2012-10-01

    Skeletal dysplasia is a disorder of skeletal development characterized by abnormality in shape, length, a number and mineral density of the bone. Skeletal dysplasia is often associated with manifestation of other organs such as lung, brain and sensory systems. Skeletal dysplasias or dysostosis are classified with more than 400 different names. Enchondral bone formation is a coordinated event of chondrocyte proliferation, differentiation and exchange of terminally maturated chondrocyte with bone. Impaired enchondral bone formation will lead to skeletal dysplasia, especially associated with short long bones. Appropriate bone volume and mineral density are achieved by balance of bone formation and bone resorption and mineralization. The gene encoding fibroblast growth factor receptor 3 is responsible for achondroplasia, representative skeletal dysplasia with short stature. The treatment with growth hormone is approved for achondroplasia in Japan. Osteogenesis imperfecta is characterized by low bone mineral density and fragile bone. Data on the beneficial effect of bisphosphonate for osteogenesis imperfecta are accumulating. Osteopetrosis has high bone mineral density, but sometimes show bone fragility. In Japan as well as other countries, pediatrician treat larger numbers of patients with skeletal dysplasia with short stature and fragile bones compared to 20 years ago.

  7. Allergic bronchopulmonary aspergillosis: a rare cause of pleural effusion.

    LENUS (Irish Health Repository)

    O'Connor, T M

    2012-02-03

    Aspergillus fumigatus is one of the most ubiquitous of the airborne saprophytic fungi. Allergic bronchopulmonary aspergillosis (ABPA) is a syndrome seen in patients with asthma and cystic fibrosis, and is characterized by hypersensitivity to chronic colonization of the airways with A. fumigatus. We report the case of a patient with ABPA presenting with pleural effusion. A 27-year-old male was referred with recurrent right pleural effusion. Past medical history was remarkable for asthma, allergic sinusitis, and recurrent pleurisy. Investigations revealed peripheral eosinophilia with elevated serum immunoglobulin E and bilateral pleural effusions with bilateral upper lobe proximal bronchiectasis. Precipitating serum antibodies to A. fumigatus were positive and the A. fumigatus immediate skin test yielded a positive reaction. A diagnosis of ABPA associated with bilateral pleural effusions was made and the patient was commenced on prednisolone. At review, the patient\\'s symptoms had considerably improved and his pleural effusions had resolved. ABPA may present with diverse atypical syndromes, including paratracheal and hilar adenopathy, obstructive lung collapse, pneumothorax and bronchopleural fistula, and allergic sinusitis. Allergic bronchopulmonary aspergillosis is a rare cause of pleural effusion and must be considered in the differential diagnosis of patients presenting with a pleural effusion, in particular those with a history of asthma.

  8. Bronchopulmonary allergic aspergillosis Aspergilosis broncopulmonar alérgica

    Directory of Open Access Journals (Sweden)

    Rodrigo Ramírez

    1990-03-01

    Full Text Available

    A series of well defined entitles associated with colonization or invasion by fungi of the genus Aspergillus are grouped under the term Aspergillosis; there are various modalities of pulmonary involvement, namely, extrinsec asthma, extrinsec allergic alveolitis, allergic bronchopulmonary aspergillosis, aspergilloma and an invasive form in debilitated terminal patients; besldes there exists a form of food poisoning. We report on the case of a 45 year-old asthmatic woman suffering from allerglc bronchopulmonary aspergillosis and sum. maryze the clinical and laboratory features of the different pulmonary forms of aspergillosis.

    El término Aspergllosis reúne una serle de entidades bien definidas, causadas por hongos del género Aspergillus. En este artículo se presenta el caso de una mujer de 45 años con aspergllosis broncopulmonar alérgica, atendida en el Hospital Universitario San Vicente de Paúl, de Medellín y se hace una somera revisión clínico-patológica de las diferentes formas de aspergllosis pulmonar.

  9. Spondylometaphyseal dysplasia with hypercalcemia. [Radiological studies

    Energy Technology Data Exchange (ETDEWEB)

    Bagga, A.; Srivastava, R.N.; Gupta, S.; Gupta, A.

    1989-08-01

    Kozlowski's spondylometaphyseal dysplasia is characterised by short-trunk dwarfism, platyspondyly, metaphyseal dysplasia and retarded bone age. We report an association of this syndrome with asymptomatic, hypocalciuric hypercalcemia, a previously undocumented finding. (orig.).

  10. Ultrasound diagnosis of pulmonary hypertension in children with chronic bronchopulmonary diseases

    International Nuclear Information System (INIS)

    Ultrasound criteria of diagnosis of pulmonary hypertension and study this complication frequency in children with chronic bronchopulmonary diseases was determined. As diagnostic criteria of pulmonary hypertension Doppler echocardiographic indices of circulation in the pulmonary arteries are suggested

  11. Craniofacial fibrous dysplasia - radiological findings

    International Nuclear Information System (INIS)

    A short literature review of fibrous dysplasia is made. The clinical and diagnostic problems concerning localization of fibrous bone changes in cranio-facial region are precisely discussed. A classification of myelofibrosis lesions due to clinical forms, localization of changes and presence of another disturbances (pigmentations, endocrinopathies etc.) is presented. Two cases of accidentally found fibrous lesions of the skull and jaws during radiological (CBCT) examination because of dental implant treatment are described. (authors) Key words: ALBRIGHT SYNDROME. CRANIOFACIAL FIBROUS DYSPLASIA, FIBROUS BONE LESION. LICHTENSTEIN SYNDROME. MYELOFIBROUS LESION

  12. Allergic bronchopulmonary aspergillosis treated successfully for one year with omalizumab

    Directory of Open Access Journals (Sweden)

    Collins J

    2012-11-01

    Full Text Available Jennifer Collins,1 Gabriele deVos,2 Golda Hudes,2 David Rosenstreich21New York Eye and Ear Infirmary, New York, NY, 2Albert Einstein College of Medicine/Montefiore Medical Center, Bronx, NY, USABackground: Current therapy for allergic bronchopulmonary aspergillosis (ABPA uses oral corticosteroids, exposing patients to the adverse effects of these agents. There are reports of the steroid-sparing effect of anti-IgE therapy with omalizumab for ABPA in patients with cystic fibrosis (CF, but there is little information on its efficacy against ABPA in patients with bronchial asthma without CF.Objective: To examine the effects of omalizumab, measured by asthma control, blood eosinophilia, total serum immunoglobulin E (IgE, oral corticosteroid requirements, and forced expiratory volume spirometry in patients with ABPA and bronchial asthma.Methods: A retrospective review of charts from 2004–2006 of patients treated with omalizumab at an academic allergy and immunology practice in the Bronx, New York were examined for systemic steroid and rescue inhaler usage, serum immunoglobulin E levels, blood eosinophil counts, and asthma symptoms, as measured by the Asthma Control Test (ACT.Results: A total of 21 charts were screened for the diagnosis of ABPA and bronchial asthma. Four patients with ABPA were identified; two of these patients were male. The median monthly systemic corticosteroid use at 6 months and 12 months decreased from baseline usage. Total serum IgE decreased in all patients at 12 months of therapy. Pre-bronchodilator forced expiratory vital capacity at one second (FEV1 was variable at 1 year of treatment. There was an improvement in Asthma Control Test (ACT symptom scores for both daytime and nighttime symptoms.Conclusions: Treatment with omalizumab creates a steroid-sparing effect, reduces systemic inflammatory markers, and results in improvement in ACT scores in patients with ABPA.Keywords: allergic bronchopulmonary aspergillosis

  13. Genetics Home Reference: otospondylomegaepiphyseal dysplasia

    Science.gov (United States)

    ... significantly overlap those of two similar conditions, Weissenbacher-Zweymüller syndrome and Stickler syndrome type III. All of ... OS. COL11A2 mutation associated with autosomal recessive Weissenbacher-Zweymuller syndrome: molecular and clinical overlap with otospondylomegaepiphyseal dysplasia ( ...

  14. Neonatal hip dysplasia: Differental diagnosis

    Directory of Open Access Journals (Sweden)

    Vukašinović Zoran

    2010-01-01

    Full Text Available Introduction. Hip dysplasia is the elementary form of the developmental dysplasia of the hip (DDH. The diagnosis may be made by the ultrasound examination (types II a-, II b. Objective. The aim of the authors was to define the congenital structural neonatal hip dysplasia, and to differentiate hip hypoplasia, hip dysplasia and teratogenic anomalies. Methods. In all the cases, the uniform clinical and ultrasound tests were performed. All the patients were examined in the neonatal period of life (the first six weeks. The following clinical tests were used: Le Damany-Ortolany, Coleman-Barlow-Palmen and Weissman-Strinović. For the ultrasound examination, the Graph’s method was used. Results. The investigation was performed in the period 2007- 2008. 2,878 neonates were included. The distribution of the sonotypes, according to Graph, was as follows: Ia in 16.17%. Ib in 65.08%; IIa+ in 18.17%, IIc in 0.28%, IId in 0.19%; IIIa in 0.009%, IIIb in 0.02%; and IV in 0.01%. It was found that DDH was 8 times more frequent in girls; located more frequently at the left side than bilaterally. Conclusion. Hip sonoscreening has to be performed in all newborns in the first 72 hours. The suggested follow-up period is six weeks: for the diagnosis - the first three weeks, and for the prevention and treatment - all six weeks.

  15. Irreversible Respiratory Failure in a Full-Term Infant with Features of Pulmonary Interstitial Glycogenosis as Well as Bronchopulmonary Dysplasia

    NARCIS (Netherlands)

    Jiskoot-Ermers, M.E.C.; Antonius, T.A.J.; Looijen, M.G.; Wijnen, M.H.W.A.; Loza, B.F.; Heijst, A.F.J. van

    2015-01-01

    Pulmonary interstitial glycogenosis (PIG) is a rare interstitial lung disease in the newborns. We report on the clinical presentation and pathological findings of a full-term male infant with pulmonary hypertension requiring extracorporeal membrane oxygenation (ECMO). An open lung biopsy demonstrate

  16. Ectrodactyly-ectodermal dysplasia clefting syndrome (EEC syndrome)

    OpenAIRE

    Koul, Monika; Dwivedi, Rahul; Upadhyay, Vinod

    2014-01-01

    Ectrodactyly-ectodermal dysplasia- clefting syndrome (also k/a. split hand- split foot malformation /split hand-split foot ectodermal dysplasia- cleft syndrome/ectodermal dysplasia cleft lip/cleft palate syndrome) a rare form of ectodermal dysplasia, is an autosomal dominant disorder inherited as a genetic trait and characterized by a triad of (i) ectrodactyly, (ii) ectodermal dysplasia and, (iii) & facial clefts.

  17. Prediction of exacerbation chronic bronchopulmonary diseases in children with influenza

    Directory of Open Access Journals (Sweden)

    O. I. Afanaseva

    2015-01-01

    Full Text Available The objective: To develop a method for predicting exacerbation of chronic illness in children with asthma and cystic fibrosis, patients with influenza, based on the study of the dynamics of cytokines. Materials and methods: Were examined 52 patients with bronchial asthma and 45 children with cystic fibrosis at the age from 1 year to 12 years, located in infectious pulmonary Department at the planned treatment of underlying pathology, in which influenza was in-hospital infection. Control group observations included 40 patients with the flu, without concomitant pulmonary disease. The etiology of viral infection was established by detection of viral RNA in nasopharyngeal swabs by PCR. Among the influenza viruses were identified influenza АH1N1, АH3N2, influenza B, and in 2009–2010 the predominant antigen was the pandemic influenza virus АH1N1pdm09. Determination of the concentration of serum interleukins IL-1β, IL-4, IL-8, IL-10, ТNF-α, IFN-γ was performed in the 1st and 3rd day of hospitalization cytokines by the solid-phase immune-enzyme assay. Analysis of the results performed using statistical package SPSS 17.0 EN for Windows. Results: The flu caused the aggravation associated bronchopulmonary pathology in 2/3 of children, as MV patients, and patients with BA (65,4%-66,7%, respectively. With an increase of the ratio of IL-4 / IFN-γ and IL-10/IFN-γ, at least 5-6 times, influenza can be considered a trigger of exacerbation of chronic bronchopulmonary pathologies that require amplification of the therapy of bronchial asthma and of сystic fibrosis. The growth of prognostic coefficients in 2-3 times allows using for treatment of influenza in these patients only antiviral agents. Conclusion: The study has shown a method for predicting exacerbation of bronchial asthma and cystic fibrosis in children at an early stage of influenza by calculating the ratio of IL-4/IFN-γ and IL-10/IFN-γ in children aged from 1 year to 12 years. 

  18. Skeletal dysplasias: A radiographic approach and review of common non-lethal skeletal dysplasias

    Institute of Scientific and Technical Information of China (English)

    Ananya; Panda; Shivanand; Gamanagatti; Manisha; Jana; Arun; Kumar; Gupta

    2014-01-01

    Skeletal dysplasias are not uncommon entities and a radiologist is likely to encounter a suspected case of dysplasia in his practice. The correct and early diagnosis of dysplasia is important for management of complications and for future genetic counselling. While there is an exhaustive classification system on dysplasias, it is important to be familiar with the radiological features of common dysplasias. In this article, we enumerate a radiographic approach to skeletal dysplasias, describe the essential as well as differentiating features of common non-lethal skeletal dysplasias and conclude by presenting working algorithms to either definitively diagnose a particular dysplasia or suggest the most likely differential diagnoses to the referring clinician and thus direct further workup of the patient.

  19. Cleidocranial dysplasia: a case report

    Energy Technology Data Exchange (ETDEWEB)

    Kim, Jae Duk; Lee, Chang Yul; You, Choong Hyun [Chosun University College of Medicine, Gwangju (Korea, Republic of)

    2004-03-15

    Cleidocranial dysplasia is a rare and autosomal dominant disorder characterized by aplasia or hypoplasia of the clavicles, an open fontanelle, dental abnormalities, and short stature. A 17-year-old female who presented with short stature and subsequent delay in eruption of permanent teeth is described. she showed the abnormal hypermobility of the shoulder, ocular hypertelorism and concave nasal bridge. Radiographs revealed the underdeveloped maxilla, defect of the cranium in the fontanelle region, and aplasia of the clavicles. Characteristically, panoramic view revealed near parallel-sided borders of the ascending ramus and downward curvature of the zygomatic arch with hypoplasia. The prolonged retention of deciduous teeth with delayed eruption of permanent teeth and multiple embedded supernumerary teeth were striking. Radiographic and clinical investigations revealed Cleidocranial dysplasia.

  20. Childhood allergic bronchopulmonary aspergillosis presenting as a middle lobe syndrome.

    Science.gov (United States)

    Shah, Ashok; Gera, Kamal; Panjabi, Chandramani

    2016-01-01

    Allergic bronchopulmonary aspergillosis (ABPA) is infrequently documented in children with asthma. Although collapse is not uncommon, middle lobe syndrome (MLS) as a presentation of ABPA is rather a rarity. A 9-year-old female child with asthma presented with increase in intensity of symptoms along with a right midzone patchy consolidation on a chest radiograph. In addition, an ill-defined opacity abutting the right cardiac border with loss of cardiac silhouette was noted. A right lateral view confirmed a MLS, which was further corroborated by high resolution computed tomography. Central bronchiectasis was also observed, which prompted a work-up for ABPA. The child met 7/8 major diagnostic criteria for ABPA. She was then initiated on oral prednisolone that resulted in a marked clinical improvement within a fortnight. Radiological clearance occurred at 3 months with inflation of the middle lobe. ABPA presenting with MLS in a child is yet to be reported. A high index of suspicion is required to establish the diagnosis of ABPA in a child presenting with MLS. This would obviate the invasive investigations usually done to ascertain the cause of MLS.

  1. Childhood allergic bronchopulmonary aspergillosis presenting as a middle lobe syndrome.

    Science.gov (United States)

    Shah, Ashok; Gera, Kamal; Panjabi, Chandramani

    2016-01-01

    Allergic bronchopulmonary aspergillosis (ABPA) is infrequently documented in children with asthma. Although collapse is not uncommon, middle lobe syndrome (MLS) as a presentation of ABPA is rather a rarity. A 9-year-old female child with asthma presented with increase in intensity of symptoms along with a right midzone patchy consolidation on a chest radiograph. In addition, an ill-defined opacity abutting the right cardiac border with loss of cardiac silhouette was noted. A right lateral view confirmed a MLS, which was further corroborated by high resolution computed tomography. Central bronchiectasis was also observed, which prompted a work-up for ABPA. The child met 7/8 major diagnostic criteria for ABPA. She was then initiated on oral prednisolone that resulted in a marked clinical improvement within a fortnight. Radiological clearance occurred at 3 months with inflation of the middle lobe. ABPA presenting with MLS in a child is yet to be reported. A high index of suspicion is required to establish the diagnosis of ABPA in a child presenting with MLS. This would obviate the invasive investigations usually done to ascertain the cause of MLS. PMID:26844222

  2. Rootless teeth: Dentin dysplasia type I

    Directory of Open Access Journals (Sweden)

    Sangamesh G Fulari

    2013-01-01

    Full Text Available A rare case of hereditary disturbance of dentine, Dentin dysplasia type I is presented, which is characterized by short or total absence of roots, obliterated pulp chambers, and peri-apical radiolucencies. It affects both primary and secondary dentition. Management of patients with dentinal dysplasia is difficult and requires a multidisciplinary approach. An overview of dentin dysplasia and its management along with a case report is discussed.

  3. Osteoarthritis of the hip and acetabular dysplasia.

    OpenAIRE

    Croft, P.; Cooper, C.; Wickham, C; Coggon, D

    1991-01-01

    The relation between acetabular dysplasia and osteoarthritis of the hip was examined in a series of 1516 pelvic radiographs taken for non-skeletal indications. Osteoarthritis was assessed by measuring joint space, and dysplasia by the centre-edge angle and acetabular depth. In contrast with previous studies of patients with symptomatic osteoarthritis of the hip, no evidence that dysplasia predisposes to osteoarthritis was found. Possible reasons for the discrepancy are discussed. It was concl...

  4. Reasons and diagnostics of dysplasia in dogs

    OpenAIRE

    Kudláčová, Michala

    2012-01-01

    The content of my bachelor thesis is determine the causes and diagnostic possibilities dysplasia of dogs. The first part describes the reasons and diagnostic methods elbow dysplasia. In the second part I turn to issue hip dysplasia, where is more space devoted to the method PennHIP. The aim of my bachelor thesis is to find reasons, describe methods of diagnostic and show possible solutions of this situation.

  5. Spondyloepiphyseal Dysplasia Tarda in Twins

    Directory of Open Access Journals (Sweden)

    Ferhat Çekmez

    2011-08-01

    Full Text Available Introduction: Spondyloepiphyseal dysplasia (SED is a genetically heterogeneous disorder often associated with the early onset of osteoarthrosis. The X-linked recessive form (SEDL affects boys and is characterized by reduced height, arm span exceeding total height, and barrel chest deformity. The radiographic phenotype comprises a hump-shaped deformity of vertebral bodies and mild epiphyseal dysplasia of the femoral head associated with early signs of hip arthrosis.The disorder is caused by mutations in the SEDL (or sedlin gene on Xp22.12-p22.31. SED should be kept in mind as a differential diagnosis in men with early “primary” bilateral osteoarthrosis.Case Report: Here, 11 years old twins diagnosed as SED due to walking disability, limitation of joint motion, pain at the hips and disability in standing for a long time were presented. Discussion: This rare skelatal dysplasia must be kept in mind in patients with painful spine and hip joints, and walking disability. (Jo­ur­nal of Cur­rent Pe­di­at­rics 2011; 9: 97-9

  6. Lower Lid Ectropion in Hypohidrotic Ectodermal Dysplasia

    Directory of Open Access Journals (Sweden)

    Xiaoyun Zhang

    2015-01-01

    Full Text Available We report a case of a lower lid ectropion with ectodermal dysplasia and ectropion blepharoplasty surgery experience. A 14-year-old Han nationality male patient with typical characteristics of hypohidrotic ectodermal dysplasia presented to our clinic for his right lower lid eversion. The patient was diagnosed as having hypohidrotic ectodermal dysplasia and underwent an uneventful blepharoplasty surgery. The lower lid maintained normal position during the 10-month follow-up period. Patients with ectodermal dysplasia could firstly visit ophthalmologist for their ectropion and blepharoplasty surgery could be useful for the disease.

  7. A case report of the fibrous dysplasia

    International Nuclear Information System (INIS)

    The author observed a rare case of fibrous dysplasia in 12 year old female who came to the Infirmary of Dental College, Seoul National University, complaining of facial asymmetry of 3 years' duration in right maxillofacial region. The serial radiograms has been taken, and the nature of the lesion established as a typical fibrous dysplasia according to the interpreted findings in their images. The author has obtained the results as follows: 1. Fibrous dysplasia occurred at 3 years of age in this case. 2. On familial tendency, traumatic history and endocrine disturbances were not noted in this patient. 3. The serial radiograms revealed a typical fibrous dysplasia encroaching right zygomatic bone.

  8. [Improving system of prevention and rehabilitation for asbestos-related broncho-pulmonary diseases in workers].

    Science.gov (United States)

    2011-01-01

    To improve a system of prevention and rehabilitation for broncho-pulmonary diseases among workers engaged into extraction and utilization of chrysotile asbestos, the authors specified major criteria for diagnosis of asbestos-related pulmonary diseases and signs of exposure to asbestos-containing dust, with definition of risk groups for broncho-pulmonary diseases. The authors formulated main concepts of prevention and rehabilitation for asbestos-related pulmonary diseases in workers engaged into asbestos industry. Special attention was paid to harmonization of all medical and technical measures aimed to prevention and liquidation of asbestos-related diseases. PMID:21789804

  9. Genetics Home Reference: multiple epiphyseal dysplasia

    Science.gov (United States)

    ... on PubMed (1 link) PubMed OMIM (6 links) COLLAGEN, TYPE IX, ALPHA-1 EPIPHYSEAL DYSPLASIA, MULTIPLE, 1 EPIPHYSEAL ... Dijkstra I, Verrips A, Taylor JA, Briggs MD. Type IX collagen gene mutations can result in multiple epiphyseal dysplasia ...

  10. Developmental Dislocation (Dysplasia) of the Hip (DDH)

    Science.gov (United States)

    .org Developmental Dislocation (Dysplasia) of the Hip (DDH) Page ( 1 ) The hip is a “ball-and-socket” joint. In a normal hip, the ball at the ... American Academy of Orthopaedic Surgeons. .org Developmental Dislocation (Dysplasia) of the Hip cont. • Family history of DDH (parents or siblings) • ...

  11. Bone scintigraphy in polyostotic fibrous dysplasia

    Energy Technology Data Exchange (ETDEWEB)

    Wadhwa, S.S.; Mansberg, R.; Fernandes, V.B. [Illawarra Regional Hospital, Wollongong, NSW, (Australia)

    1998-03-01

    Fibrous dysplasia is a benign skeletal disorder of unknown aetiology. Fibrous dysplasia characteristically involves the fibrous replacement of portions of the medullary cavities of a single bone (monostotic) or multiple bones (polyostotic). Bones typically involved include the femurs, tibiae, ribs and maxillae. The polyostotic form may be accompanied by skin pigmentation and endocrine abnormalities (McCune Allbright Syndrome). Radiological findings in fibrous dysplasia are variable, ranging from completely radiolucent to radio-opaque lesions, depending on the amount of fibrous or osseous tissue deposited in the medulla. The most common radiographic finding is that of a ground glass-like semi-opaque lesion. Case reports on scintigraphic manifestation of fibrous dysplasia are scanty. We present radiological and scintigraphic findings of polyostotic fibrous dysplasia in a young male. (authors). 3 refs., 1 fig.

  12. Ectodermal dysplasia in identical twins

    Directory of Open Access Journals (Sweden)

    Gurkar Haraswarupa Puttaraju

    2013-01-01

    Full Text Available Hereditary hypohidrotic ectodermal dysplasia (HED is typically inherited as an X-linked recessive trait, characterized by deformity of at least two or more of the ectodermal structures - hair, teeth, nails and sweat glands. Two cases of hereditary HED involving identical male twins, is being documented for the rarity of its occurrence with special attention given to genetics, pathophysiology, clinical, intraoral manifestations and to the methods to improve the masticatory function, the facial esthetics and psychology of patients affected by this disease.

  13. Craniometadiaphyseal dysplasia, wormian bone type.

    Science.gov (United States)

    Santolaya, J M; Hall, C M; García-Miñaur, S; Delgado, A

    1998-05-18

    We report on a 4-year-old boy with craniometadiaphyseal dysplasia (CMDD), wormian bone type. Component manifestations include a large head with prominent forehead, skull changes showing multiple wormian bones, wide long tubular bones without the usual metaphyseal flare, wide and short tubular bones without the normal diaphyseal constriction, and wide ribs and clavicles. In addition to these findings, the propositus, his brother, his father, and a paternal aunt all have parietal protuberances, which seem not related to CMDD. Parental consanguineity supports the autosomal recessive transmission of the condition. PMID:9605592

  14. Aspirin induced asthma accompanied with allergic bronchopulmonary aspergillosis: a case report

    Institute of Scientific and Technical Information of China (English)

    TANG Rui; ZHANG Hong-yu

    2010-01-01

    @@ In this paper, we describe a patient with a rather severe form of aspirin-induced asthma (AIA) and allergic bronchopulmonary aspergillosis (ABPA). The patient is a man born in 1948, who first presented with rhinorrhea,nasal congestion and chronic urticaria, and had an episode of asthma after ingestion of non-steroidal anti-inflammatory drugs (NSAIDs) for the further eight years.

  15. Allergic bronchopulmonary aspergillosis and bilateral fungal balls terminating in disseminated aspergillosis.

    Science.gov (United States)

    Anderson, C J; Craig, S; Bardana, E J

    1980-02-01

    A unique case of allergic bronchopulmonary aspergillosis associated with bilateral apical aspergillomas terminating in disseminated aspergillosis is presented. Postulated mechanisms of this combination are discussed with respect to the patient's clinical findings. The contribution of systemic and aerosolized corticosteroids are considered major contributing factors to dissemination of disease. PMID:7351446

  16. Mixed form of congenital cystic adenomatoid malformation and extralobar bronchopulmonary sequestration : a case report

    International Nuclear Information System (INIS)

    Bronchopulmonary sequestration (BPS) and congenital cystic adenomatoid malformation (CCAM) are rare, but both should be included in the differential diagnosis of fetal lung mass. We experienced a mixed form of Stocker type-III CCAM and extralobar BPS, and present this case, together with a review of the related literature. (author)

  17. Long-term results of PRRT in advanced bronchopulmonary carcinoid

    Energy Technology Data Exchange (ETDEWEB)

    Mariniello, Annapaola; Bodei, Lisa; Baio, Silvia Melania; Gilardi, Laura; Colandrea, Marzia; Papi, Stefano; Grana, Chiara Maria [European Institute of Oncology, Division of Nuclear Medicine, Milan (Italy); Tinelli, Carmine [IRCCS Foundation Policlinico San Matteo, Epidemiology and Biometric Unit, Pavia (Italy); Valmadre, Giuseppe [Presidio Ospedaliero E. Morelli AOVV, Sondalo (Italy); Fazio, Nicola [European Institute of Oncology, Unit of Gastrointestinal Medical Oncology and Neuroendocrine Tumors, Milan (Italy); Galetta, Domenico [European Institute of Oncology, Thoracic Surgery Division, Milan (Italy); Paganelli, Giovanni [Istituto Scientifico Romagnolo per lo Studio e la Cura dei Tumori (IRST) IRCCS, Nuclear Medicine and Radiometabolic Units, Meldola (Italy)

    2016-03-15

    Peptide receptor radionuclide therapy (PRRT) for the treatment of neuroendocrine tumours (NET) has been explored for almost two decades, but there are still few trials that have exclusively investigated well-differentiated and moderately differentiated NET arising from the respiratory tree. Thus, the aim of this study was to explore the outcome in patients affected by bronchopulmonary carcinoid (BPC) following PRRT. We retrospectively analysed 114 patients with advanced stage BPC consecutively treated with PRRT at the European Institute of Oncology, Milan, from 1997 to 2012 and followed until October 2014. The objective responses, overall survival (OS) and progression-free survival (PFS) were rated, and three different PRRT protocols ({sup 90}Y-DOTATOC vs. {sup 177}Lu-DOTATATE vs. {sup 90}Y-DOTATOC + {sup 177}Lu-DOTATATE) were compared with regard to their efficacy and tolerability. The median OS (evaluated in 94 of the 114 patients) was 58.8 months. The median PFS was 28.0 months. The {sup 177}Lu-DOTATATE protocol resulted in the highest 5-year OS (61.4 %). Morphological responses (partial responses + minor responses) were obtained in 26.5 % of the cohort and were associated with longer OS and PFS. The {sup 90}Y-DOTATOC + {sup 177}Lu-DOTATATE protocol provided the highest response rate (38.1 %). Adverse events were mild in the majority of patients. However, haematological toxicity negatively affected survival. No severe (grade 3/4) serum creatinine increase was observed. Patients treated with {sup 90}Y-DOTATOC alone more frequently showed a mild/moderate decrease in renal function. In patients treated with chemotherapy before PRRT had a shorter OS and PFS, and a higher risk of developing nephrotoxicity. In a large cohort of patients with advanced BPC treated in a ''real-world'' scenario and followed up for a median of 45.1 months (range 2 - 191 months), PRRT proved to be promising in prolonging survival and delaying disease progression. Despite

  18. Ectrodactyly-ectodermal dysplasia clefting syndrome (EEC syndrome).

    Science.gov (United States)

    Koul, Monika; Dwivedi, Rahul; Upadhyay, Vinod

    2014-01-01

    Ectrodactyly-ectodermal dysplasia- clefting syndrome (also k/a. split hand- split foot malformation /split hand-split foot ectodermal dysplasia- cleft syndrome/ectodermal dysplasia cleft lip/cleft palate syndrome) a rare form of ectodermal dysplasia, is an autosomal dominant disorder inherited as a genetic trait and characterized by a triad of (i) ectrodactyly, (ii) ectodermal dysplasia and, (iii) & facial clefts. PMID:25737931

  19. Autosomal recessive ectodermal dysplasia: I. An undescribed dysplasia/malformation syndrome.

    Science.gov (United States)

    Bustos, T; Simosa, V; Pinto-Cisternas, J; Abramovits, W; Jolay, L; Rodriguez, L; Fernandez, L; Ramela, M

    1991-12-15

    We describe 27 individuals of 7 families related to each other with high probability who showed manifestations of ectodermal dysplasia and other anomalies affecting females as severely as males with variable expressivity. All parents were normal. These families were detected in a relatively isolated and inbred population with very small neighbouring communities from a Caribbean Sea island, Margarita Island, in Northeastern Venezuela (Nueva Esparta State). The clinical picture common to all patients could not be classified within the heterogeneous group of known ectodermal dysplasias and the published cases do not resemble our patients. We believe that this condition constitutes a newly recognized autosomal recessive dysplasia/malformation syndrome of ectodermal dysplasia. PMID:1776626

  20. Ectodermal Dysplasia Skin Fragility Syndrome

    Directory of Open Access Journals (Sweden)

    Ayça Alan Atalay

    2014-06-01

    Full Text Available Ectodermal dysplasia-skin fragility syndrome (EDSFS is a rare autosomal recessive genodermatosis first described in 1997 by Mc Grath. EDSFS results from loss of function mutations in plakophilin-1 (PKP1. PKP1 is a structural component of desmosomes, cellcell adhesion complexes. It is also found as a nuclear protein in several cell types that are lack of desmosomes. In skin, however, PKP1 expression is confined mainly to suprabasal keratinocytes and the outer root sheath of hair follicules. Loss of function mutation in PKP1 leads to extensive skin fragility, bullae and erosions following minor trauma, focal keratoderma with painful fissures, alopecia, and nail dystrophy. In some patients hypohidrosis may also be seen. EDSFS is now considered as a specific suprabasal form of epidermolysis bullosa simplex. In this report we describe a 20 year old EDSFS case.

  1. Posttraumatic Cranial Cystic Fibrous Dysplasia

    Directory of Open Access Journals (Sweden)

    Arata Tomiyama

    2011-01-01

    Full Text Available A 14-year-old was girl admitted to our hospital with a subcutaneous mass of the occipital head. The mass had grown for 6 years, after she had sustained a head injury at the age of 6, and was located directly under a previous wound. Skull X-ray Photograph (xp, computed tomography (CT, and magnetic resonance imaging (MRI showed a bony defect and cystic changes in the skull corresponding to a subcutaneous mass. Bone scintigraphy revealed partial accumulation. The patient underwent total removal of the skull mass, and the diagnosis from the pathological findings of the cyst wall was fibrous dysplasia (FD. The radiographic findings for cystic cranial FD can be various. Progressive skull disease has been reported to be associated with head trauma, but the relationship between cranial FD and head trauma has not been previously reported. Previous studies have suggested that c-fos gene expression is a key mechanism in injury-induced FD.

  2. Renal infarction complicating fibromuscular dysplasia.

    Science.gov (United States)

    Gavalas, M; Meisner, R; Labropoulos, N; Gasparis, A; Tassiopoulos, A

    2014-01-01

    Fibromuscular dysplasia (FMD) is a nonatherosclerotic, noninflammatory vascular disease that most commonly affects the renal and extracranial carotid arteries. We present 3 cases of renal infarction complicating renal artery FMD in 42-, 43-, and 46-year-old females and provide a comprehensive review of the literature on this topic. In our patients, oral anticoagulation therapy was used to treat all cases of infarction, and percutaneous angioplasty was used nonemergently in one case to treat refractory hypertension. All patients remained stable at 1-year follow-up. This is consistent with outcomes in previously published reports where conservative medical management was comparable to surgical and interventional therapies. Demographic differences may also exist in patients with renal infarction and FMD. A higher prevalence of males and a younger age at presentation have been found in these patients when compared to the general population with FMD.

  3. Developmental hip dysplasia in adolescence

    Directory of Open Access Journals (Sweden)

    Vukašinović Zoran

    2009-01-01

    Full Text Available The authors define adolescence and developmental dysplasia of the hip (DDH. Special attention is paid to pathological findings characteristic of DDH in adolescence (unrecognized and untreated DDH; treated DDH, but non-terminated treatment; DDH diagnosed with delay, inadequately treated, with complications. The authors emphasise that DDH treatment has to be successfully terminated well before the adolescence; possibilities are explained on management modes at the time of adolescence, and possible persons guilty for the persistence of later hip problems are indicated. Based on the authors' experience and having in mind all surgical possibilities for the treatment (pelvic osteotomies, femoral osteotomies, trochanteroplasties, leg length equalization procedures the authors propose treatment protocols. The intention is to provide better treatment results and to prevent secondary hip arthrosis. Furthermore, how to improve the struggle against DDH is suggested.

  4. Mandibuloacral Dysplasia in An Iranian Girl

    Directory of Open Access Journals (Sweden)

    F. Abbasi

    2006-07-01

    Full Text Available Mandibuloacral dysplasia (MAD is a rare autosomal recessive syndrome. Less than 25 families have been reported, most of which are Italian. Here, we describe a new patient of Iranian origin, born to consanguineous parents.

  5. Congenital distal humeral dysplasia: a case report

    Energy Technology Data Exchange (ETDEWEB)

    Joseph, Benjamin; Varghese, Renjit A. [Department of Orthopaedics, Kasturba Medical College, Manipal 576119, Karnataka State (India)

    2003-01-01

    Congenital dysplasia of the humerus is very rare. It is characteristically seen in omodysplasia and has also been reported as one of the associated features of Larsen's syndrome. We report a 4-year-old girl with bilateral humero-ulnar dysplasia, with dislocation of the elbows, facial dysmorphism, ball-and-socket ankles and foot deformities. Although the elbow dysplasia is similar to that seen in Larsen's syndrome, other pathognomic features of Larsen's syndrome were absent. The changes seen in the elbows in this patient are also different from those encountered in omodysplasia. We believe that this condition may be a distinct form of skeletal dysplasia hitherto undescribed. (orig.)

  6. Guidelines for the management of gastroenteropancreatic neuroendocrine tumours (including bronchopulmonary and thymic neoplasms). Part II-specific NE tumour types

    DEFF Research Database (Denmark)

    Oberg, Kjell; Astrup, Lone Bording; Eriksson, Barbro;

    2004-01-01

    Part II of the guidelines contains a description of epidemiology, histopathology, clinical presentation, diagnostic procedure, treatment, and survival for each type of neuroendocrine tumour. We are not only including gastroenteropancreatic tumours but also bronchopulmonary and thymic neuroendocri...

  7. Васкground development questionnaire quality of life for school age children with broncho-pulmonary disease

    Directory of Open Access Journals (Sweden)

    Nataliya Ivasyk

    2015-08-01

    Full Text Available Purpose: to prove feasibility of developing a questionnaire to assess quality of life for school-age children with acute broncho-pulmonary diseases. Material and Methods: analysis of scientific and methodological literature on the study of quality of life. Results: to assess quality of life using both general and specific questionnaires. The most of special are questionnaires designed for adults, and all pulmonary questionnaires designed for chronic diseases. There are of survey questionnaire for children with acute broncho-pulmonary diseases. Conclusions: the proposed of us a questionnaire for children with broncho-pulmonary diseases include questions to determine the effect impact of symptoms of diseasea on motor activity and quality of life. In future we plans to cheak effectiveness of the application of this questionnaire for determine quality of life of children with acute broncho-pulmonary diseases with goal to determine the effectiveness of the rehabilitation process

  8. Bilateral anophthalmia with septo-optic dysplasia

    Directory of Open Access Journals (Sweden)

    Manisha Jana

    2010-01-01

    Full Text Available Bilateral anophthalmia is a rare entity and association with septo-optic dysplasia is an even rare condition. The condition is characterized by absent eyeballs in the presence of eyelids, conjunctiva or lacrimal apparatus. Though anophthalmia can be diagnosed clinically, imaging plays a crucial role in delineating the associated anomalies. In addition, often clinical anophthalmia may prove to be severe microphthalmia on imaging. We describe the imaging findings in an infant with bilateral anophthalmia and septo-optic dysplasia.

  9. Hip dysplasia and congenital hip dislocation

    Energy Technology Data Exchange (ETDEWEB)

    Lingg, G.; Nebel, G.; von Torklus, D.

    1981-11-01

    In human genetics and orthopedics quite different answers have been given to the question of hereditary transmission and frequency of hip dysplasia in families of children with congenital hip dislocation. We therefore have made roentgenometric measurements of 110 parents of children with congenital hip dislocation. In 25% we found abnormal flat acetabulae, whereas 12% had pathologic deep hips. This may propose a new concept of morphology of congenital hip dysplasia.

  10. CONGENITAL RADIAL DYSPLASIA: A CASE REPORT

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    Venkatram Reddy

    2015-08-01

    Full Text Available Congenital radial dysplasia, also referred to as radial club hand , means deficiency along the preaxial or radial side of the extremity. It ranges from hypoplasia of the thumb to variou s degrees of radial hypoplasia. We present one such rare case of type 4 congenital unilateral isolated radial dysplasia with carpel anomaly , reported to our department in SVS medical C ollege, Mahabubanagar, Telangana state

  11. Radiological features of bilateral hereditary micro-epiphyseal dysplasia - a distinct entity in the skeletal dysplasias

    NARCIS (Netherlands)

    Morstert, AK; Dijkstra, PF; van Horn, [No Value; Jansen, BRH; Heutink, P; Lindhout, D

    2002-01-01

    Aim: To prove that bilateral hereditary micro-epiphyseal dysplasia (BHMED), first described by Elsbach in 1959 [1], is a distinct disorder radiologically as well as clinically, compared with multiple epiphyseal dysplasia (MED). Material and Methods: We used the data of the revised pedigree with 84 f

  12. Human Immunodeficiency Virus and Allergic Bronchopulmonary Aspergillosis: Case Report and Review of Literature

    Science.gov (United States)

    Galiatsatos, Panagis; Melia, Michael T.; Silhan, Leann L.

    2016-01-01

    Allergic bronchopulmonary aspergillosis (ABPA) results from a hypersensitivity response to airways colonization with Aspergillus fumigatus, and it occurs most often in individuals with asthma or cystic fibrosis. Allergic bronchopulmonary aspergillosis is an indolent, but potentially progressive, disease in patients. In patients infected with human immunodeficiency virus (HIV), ABPA is rare, and its description in the literature is limited to case reports. We describe the occurrence of ABPA in a 37-year-old woman with well controlled HIV infection. This represents the first documented case of ABPA in an HIV-infected patient whose only pulmonary comorbidity included the ramifications of prior acute respiratory distress syndrome due to Pneumocystis jirovecii pneumonia. We also review prior case reports of ABPA in HIV-infected patients and consider risk factors for its development.

  13. Partitioning of bronchopulmonary carcinoids in two different prognostic categories by Ki-67 score

    Directory of Open Access Journals (Sweden)

    Franco eGrimaldi

    2011-08-01

    Full Text Available Introduction: Histological distinction between typical and atypical bronchopulmonary carcinoids is based on mitotic activity and necrosis. Regardless of these two parameters, outcome after surgery is often unpredictable. In this study the prognostic value of different clinico-pathological factors was retrospectively analyzed in a large series of patients with bronchopulmonary carcinoid.Patients & Methods: The long-term postsurgical outcome of 106 radically treated patients affected by bronchopulmonary carcinoid from 2 Italian centers was correlated with tumor characteristics assessed by combining conventional histology with a panel of immunohistochemical markers of neuroendocrine differentiation (chromogranin-A, NSE and proliferation activity (Ki-67 score. Results: Carcinoids were assessed as typical (TC=75; 70.8% and atypical (AC=31; 29.2%. Mean follow-up was 8.3 years (range: 0-20; median: 8.0. All cases expressed neuroendocrine markers. At univariate analysis, tumor recurrence [14/75 TC (18.7%, 15/31 AC (48.4%] correlated with carcinoid histotype (P = 0.003, tumor size (P = 0.012, mitotic index (P = 0.044, Ki-67 score (P < 0.0001, and synchronous node metastasis (P = 0.037. Of these, Cox multivariate analysis confirmed only Ki-67 score as independent predictor of disease recurrence (P = 0.009. The best cut-off for Ki-67 score (calculated by ROC curves discriminating recurrent versus non recurrent disease was 4% (sensitivity 79.3%; specificity 83.8%; area under the curve 0.85. By stratifying patients according to this cut-off, a significantly different disease-free survival was found (log-rank test P < 0.0001.Conclusions: Ki-67 score accurately separates bronchopulmonary carcinoids in two well-distinct histo-prognostic categories. Ki-67 score predicts the patient’s outcome better than mitotic count, histotype and tumor stage and it is therefore helpful in establishing the appropriate follow-up.

  14. Cystic fibrosis transmembrane conductance regulator (CFTR) gene mutations in allergic bronchopulmonary aspergillosis.

    OpenAIRE

    Miller, P. W.; Hamosh, A.; Macek, M.; Greenberger, P. A.; MacLean, J; Walden, S M; Slavin, R G; Cutting, G R

    1996-01-01

    The etiology of allergic bronchopulmonary aspergillosis (ABPA) is not well understood. A clinical phenotype resembling the pulmonary disease seen in cystic fibrosis (CF) patients can occur in some individuals with ABPA. Reports of familial occurrence of ABPA and increased incidence in CF patients suggest a possible genetic basis for the disease. To test this possibility, the entire coding region of the cystic fibrosis transmembrane regulator (CFTR) gene was analyzed in 11 individuals who met ...

  15. Developmental dysplasia of the hip

    Directory of Open Access Journals (Sweden)

    Shahryar Noordin

    2010-10-01

    Full Text Available Developmental dysplasia of the hip (DDH is a spectrum of anatomical abnormalities of the hip joint in which the femoral head has an abnormal relationship with the acetabulum. Most studies report an incidence of 1 to 34 cases per 1,000 live births and differences could be due to different diagnostic methods and timing of evaluation. Risk factors include first born status, female sex, positive family history, breech presentation and oligohydramnios. Clinical presentations of DDH depend on the age of the child. Newborns present with hip instability, infants have limited hip abduction on examination, and older children and adolescents present with limping, joint pain, and/or osteoarthritis. Repeated, careful examination of all infants from birth and throughout the first year of life until the child begins walking is important to prevent late cases. Provocative testing includes the Barlow and Ortolani maneuvers. Other signs, such as shorting of the femur with hips and knees flexed (Galeazzi sign, asymmetry of the thigh or gluteal folds, and discrepancy of leg lengths are potential clues. Treatment depends on age at presentation and outcomes are much better when the child is treated early, particularly during the first six months of life.

  16. Cervical spinal monostotic fibrous dysplasia: A case report

    Energy Technology Data Exchange (ETDEWEB)

    Kim, Ok Hwa [Dept. of Radiology, Haeundae Paik Hospital, Inje University College of Medicine, Busan (Korea, Republic of)

    2013-09-15

    Monostotic fibrous dysplasia of the cervical vertebra is quite unusual. The author reports a case of monostotic fibrous dysplasia affecting the second cervical vertebra with descriptions from the CT, MR and bone scanning findings.

  17. Fibrous dysplasia in axis treated with vertebroplasty

    Directory of Open Access Journals (Sweden)

    Kadir Kotil

    2010-01-01

    Full Text Available Vertebroplasty of the axis is a challenging procedure, and little is known about its therapeutic outcome. Cervical fibrous dysplasia with a distinct cyst is a rare entity and few cases have been reported in the literature. A 55-year-old man with fibrous dysplasia of axis presented with severe neck pain and left arm since six months. Computed tomography and magnetic resonance imaging revealed an expansile, destructive lesion involving the axis, and no spinal cord. He was submitted to retropharyngeal surgery and the lesion was fulled by vertebroplasty. Microscopic examination was consistent with the diagnosis of monostotic fibrous dysplasia. After the surgery no recurrence was observed. The patient had remarkable improvement in clinical relief of neck pain at 1-year follow-up. Although there are descriptions of vertebral fibrous dysplasia, this is the 13th case of monostotic fibrous dysplasia of the cervical spine, and the 3rd case of the axis described in the literature. The unique case who had treated with ope vertebroplasty.

  18. Fibrous dysplasia of bone: a clinicopathologic review

    Directory of Open Access Journals (Sweden)

    Mohan H

    2011-11-01

    Full Text Available Harsh Mohan1, Preeti Mittal1, Irneet Mundi1, Sudhir Kumar21Department of Pathology, 2Department of Orthopedics, Government Medical College, Sector 32, Chandigarh, IndiaAbstract: Fibrous dysplasia of the bones is an uncommon congenital skeletal disorder that is found equally in both genders and is not inherited. Its etiology has been linked to an activating mutation of Gsα and the downstream effects of the resultant increase in cAMP. Fibrous dysplasia is categorized as either monostotic or polyostotic, and may occur as a component of McCune-Albright syndrome or the rare Mazabraud syndrome. Long bones, skull bones, and ribs are the most commonly affected bones. The radiological picture is somewhat variable, including a ground-glass appearance, expansion of the bone, and sclerosis surrounding the lesion. Histologically, fibrous dysplasia shows irregularly-shaped trabeculae of immature, woven bone in a background of variably cellular, loosely arranged fibrous stroma. It may be complicated by pathologic fracture, and rarely by malignant transformation. This review examines interesting issues surrounding the etiology of fibrous dysplasia, its clinical and laboratory manifestations, radiological picture, utility of bone biopsy, gross and microscopic pathology, complications, and its differential diagnostic considerations.Keywords: fibrous dysplasia, McCune-Albright syndrome, monostotic form, polyostotic form

  19. Perinatal lethal skeletal dysplasia: a case report

    Directory of Open Access Journals (Sweden)

    Sunita Dubey

    2016-01-01

    Full Text Available The word dysplasia originates from ancient Greek words dys (anomalous and plasia (formation. Skeltal dysplasia (SD is a heterogeneous group of congenital anomalies characterized by abnormalities in the development of the bone and cartilage tissue. This results in mark disproportion of the long bones, the spine and fetal head relation to the trunk. Perinatal lethal skeletal dysplasia leads to still birth or early neonatal death due to pulmonary hypoplasia. 30 yrs old G3P3L2 at 32 weeks presented with leaking per vaginum. Her serial scan was done as she had previous stillborn male child with short limbs. Her antenatal scan revealed short limbs from 24 weeks. From18 weeks to 24 weeks she did not underwent any sonography. She went into spontaneous labor and delivered still born male baby with clinical and radiological features suggestive of skeletal dysplasia. Skeletal dysplasia can be diagnosed on antenatal 2 D ultrasound from 14 - 16 weeks onwards. Prenatal genetic testing should be done to diagnose the genetic anomaly and patient should be referred to higher institute for this test. Even if genetic test not done even then termination of pregnancy should be considered based on ultrasound diagnosis especially with family history because of poor fetal prognosis and long term morbidity if survived. [Int J Reprod Contracept Obstet Gynecol 2016; 5(1.000: 224-229

  20. Hip arthroscopy in the setting of hip dysplasia

    OpenAIRE

    Yeung, M.; Kowalczuk, M.; Simunovic, N.; Ayeni, O. R.

    2016-01-01

    Objective Hip arthroscopy in the setting of hip dysplasia is controversial in the orthopaedic community, as the outcome literature has been variable and inconclusive. We hypothesise that outcomes of hip arthroscopy may be diminished in the setting of hip dysplasia, but outcomes may be acceptable in milder or borderline cases of hip dysplasia. Methods A systematic search was performed in duplicate for studies investigating the outcome of hip arthroscopy in the setting of hip dysplasia up to Ju...

  1. Glenoid Dysplasia: Pathophysiology, Diagnosis, and Management.

    Science.gov (United States)

    Eichinger, Josef K; Galvin, Joseph W; Grassbaugh, Jason A; Parada, Stephen A; Li, Xinning

    2016-06-01

    ➤Subtle forms of glenoid dysplasia may be more common than previously thought and likely predispose some patients to symptomatic posterior shoulder instability. Severe glenoid dysplasia is a rare condition with characteristic radiographic findings involving the posteroinferior aspect of the glenoid that often remains asymptomatic.➤Instability symptoms related to glenoid dysplasia may develop over time with increased activities or trauma. Physical therapy focusing on rotator cuff strengthening and proprioceptive control should be the initial management.➤Magnetic resonance imaging and computed tomographic arthrograms are useful for detecting subtle glenoid dysplasia by revealing the presence of an abnormally thickened or hypertrophic posterior part of the labrum, increased capsular volume, glenoid retroversion, and posteroinferior glenoid deficiency.➤Open and arthroscopic labral repair and capsulorrhaphy procedures have been described for symptomatic posterior shoulder instability. Glenoid retroversion of >10° may be a risk factor for failure following soft-tissue-only procedures for symptomatic glenoid dysplasia.➤Osseous procedures are categorized as either glenoid reorientation (osteotomy) or glenoid augmentation (bone graft), and no predictable results have been demonstrated for any surgical strategy. Glenoid osteotomies have been described for increased retroversion, with successful results, although others have noted substantial complications and poor outcomes.➤In severe glenoid dysplasia, the combination of bone deficiency and retroversion makes glenoid osteotomy extremely challenging. Bone grafts placed in a lateralized position to create a blocking effect may increase the risk of the development of arthritis, while newer techniques that place the graft in a congruent position may decrease this risk. PMID:27252441

  2. Rasmussen's encephalitis presenting as focal cortical dysplasia.

    Science.gov (United States)

    O'Rourke, D J; Bergin, A; Rotenberg, A; Peters, J; Gorman, M; Poduri, A; Cryan, J; Lidov, H; Madsen, J; Harini, C

    2014-01-01

    Rasmussen's encephalitis is a rare syndrome characterized by intractable seizures, often associated with epilepsia partialis continua and symptoms of progressive hemispheric dysfunction. Seizures are usually the hallmark of presentation, but antiepileptic drug treatment fails in most patients and is ineffective against epilepsia partialis continua, which often requires surgical intervention. Co-occurrence of focal cortical dysplasia has only rarely been described and may have implications regarding pathophysiology and management. We describe a rare case of dual pathology of Rasmussen's encephalitis presenting as a focal cortical dysplasia (FCD) and discuss the literature on this topic. PMID:25667877

  3. Rasmussen's encephalitis presenting as focal cortical dysplasia

    Directory of Open Access Journals (Sweden)

    D.J. O'Rourke

    2014-01-01

    Full Text Available Rasmussen's encephalitis is a rare syndrome characterized by intractable seizures, often associated with epilepsia partialis continua and symptoms of progressive hemispheric dysfunction. Seizures are usually the hallmark of presentation, but antiepileptic drug treatment fails in most patients and is ineffective against epilepsia partialis continua, which often requires surgical intervention. Co-occurrence of focal cortical dysplasia has only rarely been described and may have implications regarding pathophysiology and management. We describe a rare case of dual pathology of Rasmussen's encephalitis presenting as a focal cortical dysplasia (FCD and discuss the literature on this topic.

  4. Turner's syndrome, fibromuscular dysplasia, and stroke.

    Science.gov (United States)

    Lancman, M; Mesropian, H; Serra, P; Granillo, R

    1991-02-01

    We report a 43-year-old woman who presented with a right frontoparietotemporal ischemic stroke. She had been diagnosed with Turner's syndrome during childhood and had a history of chronic estrogen therapy. Cerebral angiography showed lesions characteristics of fibromuscular dysplasia involving the right internal carotid and right vertebral arteries. We are not aware of any previous reports describing an association between fibromuscular dysplasia and Turner's syndrome. Although chronic estrogen therapy cannot be ruled out as a cause of this patient's stroke, we suggest a possible etiologic relation between these two entities.

  5. [Congenital hip dysplasia, screening and therapy].

    Science.gov (United States)

    Kolb, A; Windhager, R; Chiari, C

    2015-11-01

    Congenital hip dysplasia and hip dislocation are relatively common pathological conditions of the musculoskeletal system in infants. An early and certain diagnosis can now be achieved by sonographic hip screening within the framework of screening examination programs. This early diagnostic procedure in infants is essential particularly for a conservative treatment strategy. Therefore, apart from possessing in-depth knowledge, training of the examiner in specialist courses is of central importance. This article presents an overview of the entity of congenital hip dysplasia and hip dislocation, the diagnostics and treatment with special emphasis on recent developments. PMID:26489825

  6. Epileptogenicity of Cortical Dysplasias and Tumors

    Directory of Open Access Journals (Sweden)

    J Gordon Millichap

    2009-12-01

    Full Text Available The epileptogenic characteristic of focal cortical dysplasias and dysembryoplastic neuroepithelial tumors explored by depth electrodes and stereoelectroencephalography is quantified using an epileptogenicity index, in a study of 36 patients with focal drug-resistant epilepsy at Universite de la Mediterranee and other centers in Marseille and Rennes, France.

  7. Simplified Classification of Focal Cortical Dysplasia

    Directory of Open Access Journals (Sweden)

    J Gordon Millichap

    2002-09-01

    Full Text Available Sections of cortex from 52 of 224 (23% patients with cortical dysplasia, operated on for drug-resistant partial epilepsy, were retrospectively re-examined histologically at Niguarda Hospital, and Istituto Nazionale Neurologico ‘C. Besta’, Milan, Italy.

  8. The other hip in unilateral hip dysplasia

    DEFF Research Database (Denmark)

    Jacobsen, Steffen; Rømer, Lone; Søballe, Kjeld

    2006-01-01

    We reviewed transverse pelvic computed tomography scans of 197 consecutively referred adult patients with hip pain thought to be secondary to developmental dysplasia. A center-edge angle of 20 degrees or less was considered the upper normal value. Four groups were identified: 69 patients with app...

  9. Recurrent Monostotic Fibrous Dysplasia in the Mandible

    Directory of Open Access Journals (Sweden)

    Nilton Alves

    2016-01-01

    Full Text Available Fibrous dysplasia (FD is a condition in which normal bone marrow is replaced by an abnormal proliferation of new fibrous connective tissue. Female patient, white, 20 years old, attended the dental clinic reporting a slow increase in volume in the right mandible region over the last 5 years. She was examined by imaging: the panoramic X-ray revealed a lesion with the appearance of ground glass while the cone-beam computed tomography showed an extensive lesion in the region of the right hemimandible. The histopathological examination was compatible with fibrous dysplasia. Bone gammagraphy was indicated, plus an endocrinological study to eliminate polyostotic forms, which produced a negative result. Monostotic fibrous dysplasia in the right hemimandible was diagnosed. Conservative surgery was carried out and after 1 year recurrence of the tumour was observed. We may conclude that conservative surgery might not be the best choice for treatment for monostotic fibrous dysplasia in the mandible and that other options must be considered, such as radical surgery or the use of bisphosphonates. In our study, we may also conclude that it is very important to explain to the patient the possibility of recurrence of the lesion and the need for monitoring with periodic imaging studies.

  10. Screening for developmental dysplasia of the hip

    NARCIS (Netherlands)

    Boere-Boonekamp, Magda M.; Verkerk, Paul H.

    1998-01-01

    The success rates of screening programmes for Developmental Dysplasia of the Hip (DDH) vary widely. Studies on screening programmes for DDH based on a Medline search for the years 1966–1997 are reviewed. The percentage treated in most studies, especially those using ultrasound, are high and suggest

  11. MR findings of the osteofibrous dysplasia

    Energy Technology Data Exchange (ETDEWEB)

    Jung, Joon Yong; Jee, Won Hee [College of Medicine, The Catholic University of Korea, Seoul (Korea, Republic of); Hong, Sung Hwan [Dept. of Radiology, Seoul National University College of Medicine, Seoul (Korea, Republic of); and others

    2014-02-15

    The aim of this study was to describe MR findings of osteofibrous dysplasia. MR images of 24 pathologically proven osteofibrous dysplasia cases were retrospectively analyzed for a signal intensity of the lesion, presence of intralesional fat signal, internal hypointense band, multilocular appearance, cortical expansion, intramedullary extension, cystic area, cortical breakage and extraosseous extension, abnormal signal from the adjacent bone marrow and soft tissue and patterns of contrast enhancement. All cases of osteofibrous dysplasia exhibited intermediate signal intensity on T1-weighted images. On T2-weighted images, 20 and 4 cases exhibited heterogeneously intermediate and high signal intensity, respectively. Intralesional fat was identified in 12% of the cases. Internal low-signal bands and multilocular appearance were observed in 91%. Cortical expansion was present in 58%. Intramedullary extension was present in all cases, and an entire intramedullary replacement was observed in 33%. Cortical breakage (n 3) and extraosseous mass formation (n = 1) were observed in cases with pathologic fractures only. A cystic area was observed in one case. Among 21 cases without a pathologic fracture, abnormal signal intensity in the surrounding bone marrow and adjacent soft tissue was observed in 43% and 48%, respectively. All cases exhibited diffuse contrast enhancement. Osteofibrous dysplasia exhibited diverse imaging features ranging from lesions confined to the cortex to more aggressive lesions with complete intramedullary involvement or perilesional marrow edema.

  12. Novel mutations in geleophysic dysplasia type 1.

    Science.gov (United States)

    Porayette, Prashob; Fruitman, Deborah; Lauzon, Julie L; Le Goff, Carine; Cormier-Daire, Valérie; Sanders, Stephen P; Pinto-Rojas, Alfredo; Perez-Atayde, Antonio R

    2014-01-01

    Geleophysic dysplasia (GD) is a rare genetic disorder characterized by acromelic dysplasia. Geleophysic dysplasia type 1 (MIM 231050) is autosomal recessive and is caused by homozygous or compound heterozygous mutation in the ADAMTSL2 (a disintegrin and metalloproteinase with thrombosponding repeats-like 2) gene. Geleophysic dysplasia type 2 (MIM 614185) is autosomal dominant and is caused by heterozygous mutation in the fibrillin 1 (FBN1) gene. Here, we present the clinical and histopathologic findings in a child with GD with newly identified ADAMTSL2 mutations. The 1st mutation was probably a pathogenic one, c.[1934G>A] p.[Arg645His], located in exon 13; the 2nd, in intron 8, was probably changing a splice site. While the light and electron microscopic findings were similar to those previously described, hydrocephalus due to aqueductal stenosis might be a new associated finding in these patients. This child with these 2 novel mutations also had an aggressive clinical course with early-onset progressive cardiac valvular disease. PMID:24251637

  13. Comparative analyses of lung transcriptomes in patients with alveolar capillary dysplasia with misalignment of pulmonary veins and in foxf1 heterozygous knockout mice.

    Directory of Open Access Journals (Sweden)

    Partha Sen

    Full Text Available Alveolar Capillary Dysplasia with Misalignment of Pulmonary Veins (ACDMPV is a developmental disorder of the lungs, primarily affecting their vasculature. FOXF1 haploinsufficiency due to heterozygous genomic deletions and point mutations have been reported in most patients with ACDMPV. The majority of mice with heterozygous loss-of-function of Foxf1 exhibit neonatal lethality with evidence of pulmonary hemorrhage in some of them. By comparing transcriptomes of human ACDMPV lungs with control lungs using expression arrays, we found that several genes and pathways involved in lung development, angiogenesis, and in pulmonary hypertension development, were deregulated. Similar transcriptional changes were found in lungs of the postnatal day 0.5 Foxf1+/- mice when compared to their wildtype littermate controls; 14 genes, COL15A1, COL18A1, COL6A2, ESM1, FSCN1, GRINA, IGFBP3, IL1B, MALL, NOS3, RASL11B, MATN2, PRKCDBP, and SIRPA, were found common to both ACDMPV and Foxf1 heterozygous lungs. Our results advance knowledge toward understanding of the molecular mechanism of ACDMPV, lung development, and its vasculature pathology. These data may also be useful for understanding etiologies of other lung disorders, e.g. pulmonary hypertension, bronchopulmonary dysplasia, or cancer.

  14. Chest radiographic staging in allergic bronchopulmonary aspergillosis: relationship with immunological findings.

    LENUS (Irish Health Repository)

    Kiely, J L

    2012-02-03

    The question of whether a chest radiographic severity staging system could be correlated with standard blood\\/serum diagnostic indices in allergic bronchopulmonary aspergillosis (ABPA) was addressed in 41 patients. Asthma and positive Aspergillus fumigatus (AF) serology were considered essential diagnostic inclusion criteria. Eosinophil count, serum immunoglobulin (Ig)E and immediate skin hypersensitivity were also tested to grade patients as "definite" or "likely" ABPA. Definite cases had all five of these factors present, whereas likely cases had three or more. Chest radiographs were examined by experienced radiologists blinded to the clinical data. The six-stage radiographic score (0-5) was based on the severity and duration of changes seen: stage 0: normal; stage 1: transient hyperinflation; stage 2: transient minor changes; stage 3: transient major changes; stage 4: permanent minor changes; and stage 5: permanent major changes. Significant positive correlations (p<0.05) were observed between peak AF titres (expressed as an index), peak eosinophil count and radiographic severity stage. When considered as subgroups, these correlations approached, but did not reach, significance for the group with "likely" ABPA (n=28), but in the group with definite ABPA (n=13), there was a high correlation between radiographic score and peak AF index (r=0.59), as well as peak eosinophil count (r=0.62). This study suggests that the peak Aspergillus fumigatus index and eosinophil counts correlate best with the severity of radiographic stages in allergic bronchopulmonary aspergillosis. This chest radiographic staging system may be useful in the clinical assessment and management of patients with allergic bronchopulmonary aspergillosis, particularly in those patients with more severe radiographic stages.

  15. BRONCHOPULMONARY LESIONS AND QUALITY OF LIFE IN PATIENTS WITH RHEUMATOID ARTHRITIS

    Directory of Open Access Journals (Sweden)

    M. V. Sheyanov

    2011-01-01

    Full Text Available Aim – assessment of quality of life (QoL in patients with rheumatoid arthritis (RA with the presence and severity of bronchopulmonary lesions.Materials and methods. The study included 104 patients with RA and 100 patients not suffering from RA and verified chronic respiratory diseases. The analysis of the QOL of patients using questionnaires EQ-5D (EuroQoL Group, 1990 and SGRQ (St. George's Hospital questionnaire to assess respiratory function, performed spirometry, bodyplethysmography , pulse oximetry, the definition of lung diffusioncapacity, multispiral computed tomography of the lungs.Results. Performance of all scales and the resulting indices of questionnaires EQ-5D and SGRQ showed a significant decrease in QoL ofRA patients compared with those in control group and the general population. A correlation index of EQ-5D with vital capacity (r = 0.47;p < 0.001 and diffusion capacity (r = 0.67; p < 0.01 of the lungs is revealed. The main reason for the reduction of indices of the questionnaire SGRQ in patients with RA was the presence of shortness of breath. The multi-factorial origin of dyspnea in patients with RA with theessential role of bronchopulmonary lesions was established.Conclusion. Bronchopulmonary lesions in the underlying disease have an adverse impact on the QOL of patients with RA. Promising directions for improving the QOL of RA patients with bronchial lesions can be considered for activities for the conservation of respiratory lung function, exercise control RA activity, elimination of anemia correction of psycho-emotional disturbances of anxiety-depressive character.

  16. BRONCHOPULMONARY LESIONS AND QUALITY OF LIFE IN PATIENTS WITH RHEUMATOID ARTHRITIS

    Directory of Open Access Journals (Sweden)

    M. V. Sheyanov

    2014-07-01

    Full Text Available Aim – assessment of quality of life (QoL in patients with rheumatoid arthritis (RA with the presence and severity of bronchopulmonary lesions.Materials and methods. The study included 104 patients with RA and 100 patients not suffering from RA and verified chronic respiratory diseases. The analysis of the QOL of patients using questionnaires EQ-5D (EuroQoL Group, 1990 and SGRQ (St. George's Hospital questionnaire to assess respiratory function, performed spirometry, bodyplethysmography , pulse oximetry, the definition of lung diffusioncapacity, multispiral computed tomography of the lungs.Results. Performance of all scales and the resulting indices of questionnaires EQ-5D and SGRQ showed a significant decrease in QoL ofRA patients compared with those in control group and the general population. A correlation index of EQ-5D with vital capacity (r = 0.47;p < 0.001 and diffusion capacity (r = 0.67; p < 0.01 of the lungs is revealed. The main reason for the reduction of indices of the questionnaire SGRQ in patients with RA was the presence of shortness of breath. The multi-factorial origin of dyspnea in patients with RA with theessential role of bronchopulmonary lesions was established.Conclusion. Bronchopulmonary lesions in the underlying disease have an adverse impact on the QOL of patients with RA. Promising directions for improving the QOL of RA patients with bronchial lesions can be considered for activities for the conservation of respiratory lung function, exercise control RA activity, elimination of anemia correction of psycho-emotional disturbances of anxiety-depressive character.

  17. Voriconazole in the treatment of allergic bronchopulmonary aspergillosis in cystic fibrosis.

    LENUS (Irish Health Repository)

    Glackin, L

    2009-01-01

    Allergic bronchopulmonary aspergillosis (ABPA) can cause a significant clinical deterioration in patients with cystic fibrosis. There is very little research in the current literature with regard to alternatives for treatment, apart from long courses of steroids. We conducted a retrospective review of all our patients with ABPA treated with the antifungal voriconazole and found there was a significant drop in IgE levels post treatment as well as a decrease in steroid dosing. The improvement in FEV was not statistically significant; however there was a very wide variation in pre-treatment levels.

  18. Excellent outcome of Aspergillous endophthalmitis in a case of allergic bronchopulmonary aspergillosis

    Directory of Open Access Journals (Sweden)

    Balbir Khan

    2014-01-01

    Full Text Available While invasive aspergillosis occurs typically in severely immunocompromised patients, cases of surgical site infections have been reported in immunocompetent individuals. The purpose is to report an eye with post-operative Aspergillus endophthalmitis, which achieved a good visual outcome following early and aggressive treatment. A young patient, known case of allergic bronchopulmonary aspergillosis presented to us with post-cataract surgery endophthalmitis. He was treated with pars plana vitrectomy and intravitreal voriconazole and systemic itraconazole. The patient regained a vision of 20/30 with follow up of 2 years.

  19. Dysplasia in Inflammatory Bowel Diseases: Definition and Clinical Impact

    Directory of Open Access Journals (Sweden)

    Karel Geboes

    1999-01-01

    Full Text Available Dysplasia is a morphological term that ethymologically means ‘malformation’. For the definition of inflammatory bowel disease-related dysplasia, the nature and origin of the malformation are stressed and the lesion is defined as an epithelial malformation that is unequivocally neoplastic but noninvasive. The use of a precise definition is necessary because of the clinical consequences related to the finding of dysplasia in IBD. The microscopic diagnosis of dysplasia, however, remains difficult. Clinically, it is important to make a proper differential diagnosis between polypoid IBD-related dysplasia and sporadic adenoma occurring in IBD, and between therapy-related ‘pseudodysplasia’ and genuine dysplasia. When dysplasia is diagnosed, a second opinion may be indicated because of the clinical consequences. Additional techniques to search for genetic defects associated with carcinogenesis can help to support the diagnosis. They can identify changes in DNA content and molecular changes resulting from defects of genes controlling cell proliferation and death or tissue structure. These changes can, however, be absent, appear early or late in the transition from normality toward dysplasia and cancer, or appear during repair. Positive findings indicate an increased cancer risk, but the magnitude of the risk remains to be defined. A positive diagnosis of genuine dysplasia necessitates clinical action – either follow-up of the patient or treatment. In practice, treatment means surgery because dysplasia can be a precursor and/or a marker of malignancy, except for sporadic adenomas, which can be removed locally.

  20. CYTOMORPHOLOGICAL EVALUATION AND PROGNOSIS OF BRONCHOPULMONARY COMPLICATIONS IN ACUTE AND EARLY PERIODS OF SPINAL CORD TRAUMA

    Directory of Open Access Journals (Sweden)

    I.A. Norkin

    2009-09-01

    Full Text Available There were investigated 50 cytological preparations after fibro-optic bronchoscopy of 10 patients with cervical spinal cord injuries. The dynamics of broncho-pulmonary complications of spinal cord injuries was estimated on the basis of cytological broncho-alveolar lavage fluid investigations. In the work there were used clinico-neurologic methods, radiological (computer tomography and magnetic resonance imaging, endoscopic (fibro-optic bronchoscopy and cytomorphological investigations. Cytomorphological investigations of broncho-alveolar lavage fluid were carried out on the 3-4, 7, 14, 30th days. Cellular composition of the broncho-alveolar wash-out (endopulmonary cytogramme was estimated by calculation of more than 100 cells in 3 fields of the immersion microscope coverage. Quantitative changes of cellular elements were taken into account with respect to normal cell amount. The results were analyzed according to the average out method. Quantitative changes of inflammatory elements in endopulmonary cytogramme were determined by the degree of endobronchitic manifestations and were corresponding to clinico-radiological picture of development of broncho-pulmonary complications in different periods of spinal cord injury

  1. Value and indications of liver scintigraphy in the initial assessment of bronchopulmonary cancers

    International Nuclear Information System (INIS)

    This retrospective study of 117 liver scintigraphs, carried out systematically in the initial examination of bronchopulmonary cancer patients, attempts to define the value and indications of the method in the diagnosis of liver metastases at the stage when the primary cancer is discovered. Its sensitivity and reliability were estimated by comparing the interpretation of the scan with the actual situation. Scintigraphic diagnosis meets with several difficulties. It is ruled by technology: in spite of many improvements it seems that the quality of conventional scintigraphy has reached its limits, through transverse axial tomodensitometry may be a future solution. Morever its interpretation depends on the experience and temperament of the observer, as shown by the results of double-blind readings. Finally the examination is not specific to the nature of the liver disease. It seems that without prejudice to the patient the indications of liver scintigraphy in the initial assessment of bronchopulmonary cancer may be limited to cases where some clinical or biological doubt on the integrity of the liver is present

  2. Radiological diagnosis of immunologically mediated disorders of the bronchopulmonary system in children and adolescents

    International Nuclear Information System (INIS)

    After coverage of pathophysiological mechanisms, radiological symptoms and differential diagnosis of bacterial and opportunistic infections of the bronchopulmonary system are discussed as they occur in humoral, cellular and combined congenital and acquired immune deficiencies. The discussion is based on case reports. Humoral deficiences cause recurrent and chronic bacterial infections of the bronchopulmonary system, frequently with bronchiectasis. In the case of cellular and combined immune deficiencies, not only bacterial infections but also the very serious opportunistic infections occur. Opportunistic infections of the lung are predominantly caused by Pneumocystis carinii, by the cytomegaly virus, and by fungi such as Candida, Aspergillus and Mucor. Pneumocystis is also the most frequent cause of opportunistic infections of the lungs in children with AIDS. In contrast to the situation in adults, in children a relatively low-grade lymphocytic interstitial pneumonitis occasionally precedes the typical opportunistic infections. Lymphocytic interstitial pneumonitis and Pneumocystis pneumonia can be differentiated from each other easily in children because of their relatively characteristic appearances. Fungal infections, on the other hand, sometimes pose severe diagnostic problems. Radiological chest findings in autoimmune diseases are discussed. (orig.)

  3. Joint space width in dysplasia of the hip

    DEFF Research Database (Denmark)

    Jacobsen, Steffen; Sonne-Holm, Stig; Søballe, K;

    2005-01-01

    In a longitudinal case-control study, we followed 81 subjects with dysplasia of the hip and 136 control subjects without dysplasia for ten years assessing radiological evidence of degeneration of the hip at admission and follow-up. There were no cases of subluxation in the group with dysplasia....... Neither subjects with dysplasia nor controls had radiological signs of ongoing degenerative disease at admission. The primary radiological discriminator of degeneration of the hip was a change in the minimum joint space width over time. There were no significant differences between these with dysplasia...... and controls in regard to age, body mass index or occupational exposure to daily repeated lifting at admission.We found no significant differences in the reduction of the joint space width at follow-up between subjects with dysplasia and the control subjects nor in self-reported pain in the hip. The...

  4. Arrhythmogenic right ventricular dysplasia: A case report

    Directory of Open Access Journals (Sweden)

    Tessa Negrín Valdés

    2015-10-01

    Full Text Available Arrhythmogenic right ventricular dysplasia is a heart muscle disease that predominantly affects the right ventricle, bringing about the replacement of normal myocardium with fatty or fibrofatty tissue and causing sudden death in young individuals. Ventricular tachycardia is an important clinical manifestation, although there are reports of right or global heart failure. The diagnosis is confirmed by echocardiography and magnetic resonance imaging. The case of a 65-year-old former smoker, with hypertension and ischemic heart disease, a history of effort syncope symptoms and proven non-sustained ventricular tachycardia, with morphology of left bundle branch block, is reported. Relevant diagnostic studies were performed, and echocardiographic elements which were compatible with arrhythmogenic right ventricular dysplasia were found. Therefore, an implantable cardioverter defibrillator was implanted, after which the patient has had a favorable outcome.

  5. A Case Report of Camptomelic Dysplasia

    Directory of Open Access Journals (Sweden)

    Zia Islami

    2011-06-01

    Full Text Available Camptomelic Dysplasia (CMD is a rare autosomal dominant congenital dwarfism characterized by shortness and bowing of long bones (camptomelia and other severe skeletal and extra skeletal malformations. CMD is generally considered to be lethal and the majority of cases die in the neonatal period due to respiratory insufficiency.We hereunder report a term male neonate with characteristic clinical and radiological findings of CMD, hydrocephaly, no sex reversal, and a negative family history of skeletal problems who was born to non-consanguineous healthy parents and was admitted to Shahid Sadoughi Hospital, Yazd, Iran,immediately after birth due to respiratory distress.The patient required continuous mechanical ventilation support and all attempts to reduce respiratory support failed and the patient died on the 21th day of his life. Camptomelic Dysplasia is a terrible experience for parents; thus, prenatal diagnosis of CMD by ultrasound is essential and mandatory for a better therapeutic intervention.

  6. Cardiac sarcoidosis mimicking right ventricular dysplasia.

    Science.gov (United States)

    Shiraishi, Jun; Tatsumi, Tetsuya; Shimoo, Kazutoshi; Katsume, Asako; Mani, Hiroki; Kobara, Miyuki; Shirayama, Takeshi; Azuma, Akihiro; Nakagawa, Masao

    2003-02-01

    A 59-year-old woman with skin sarcoidosis was admitted to hospital for assessment of complete atrioventricular block. Cross-sectional echocardiography showed that the apical free wall of the right ventricle was thin and dyskinetic with dilation of the right ventricle. Thallium-201 myocardial imaging revealed a normal distribution. Both gallium-67 and technetium-99m pyrophosphate scintigraphy revealed no abnormal uptake in the myocardium. Right ventriculography showed chamber dilation and dyskinesis of the apical free wall, whereas left ventriculography showed normokinesis, mimicking right ventricular dysplasia. Cardiac sarcoidosis was diagnosed on examination of an endomyocardial biopsy specimen from the right ventricle. A permanent pacemaker was implanted to manage the complete atrioventricular block. After steroid treatment, electrocardiography showed first-degree atrioventricular block and echocardiography revealed an improvement in the right ventricular chamber dilation. Reports of cardiac sarcoidosis mimicking right ventricular dysplasia are extremely rare and as this case shows, right ventricular involvement may be one of its manifestations.

  7. Prosthodontic management of anhidrotic ectodermal dysplasia

    Directory of Open Access Journals (Sweden)

    Shilpy Gupta

    2011-01-01

    Full Text Available Ectodermal dysplasia is characterized by the absence or defects of two or more ectodermally derived structures. Anodontia or hypodontia is the most striking dental manifestation. In severe hypodontia, there is lack of alveolar development with consequent protrusion and eversion of the lips. Patients with anhidrotic forms suffer from heat intolerance due to lack of sweat glands and mild infections may lead to death in infancy from hyperthermia. A case of a 4-year-old child with anhidrotic ectodermal dysplasia with partial anodontia is presented. Dental, oral, and physical features were taken into consideration in diagnosis and treatment planning for this patient. Clinical management consisted of removable partial prosthesis in maxillary arch and complete denture prosthesis in mandibular arch. The main aim of the treatment was to improve psychological development and to promote better functioning of the stomatognathic system.

  8. Total hip replacement in young adults with hip dysplasia

    OpenAIRE

    Engesæter, Ingvild Ø; Lehmann, Trude; Laborie, Lene B; Lie, Stein Atle; Rosendahl, Karen; Engesæter, Lars B

    2011-01-01

    Background and purpose Dysplasia of the hip increases the risk of secondary degenerative change and subsequent total hip replacement. Here we report on age at diagnosis of dysplasia, previous treatment, and quality of life for patients born after 1967 and registered with a total hip replacement due to dysplasia in the Norwegian Arthroplasty Register. We also used the medical records to validate the diagnosis reported by the orthopedic surgeon to the register. Methods Subjects born after Janua...

  9. Hip arthroscopy in the setting of hip dysplasia

    Science.gov (United States)

    Yeung, M.; Kowalczuk, M.; Simunovic, N.

    2016-01-01

    Objective Hip arthroscopy in the setting of hip dysplasia is controversial in the orthopaedic community, as the outcome literature has been variable and inconclusive. We hypothesise that outcomes of hip arthroscopy may be diminished in the setting of hip dysplasia, but outcomes may be acceptable in milder or borderline cases of hip dysplasia. Methods A systematic search was performed in duplicate for studies investigating the outcome of hip arthroscopy in the setting of hip dysplasia up to July 2015. Study parameters including sample size, definition of dysplasia, outcomes measures, and re-operation rates were obtained. Furthermore, the levels of evidence of studies were collected and quality assessment was performed. Results The systematic review identified 18 studies investigating hip arthroscopy in the setting of hip dysplasia, with 889 included patients. Criteria used by the studies to diagnose hip dysplasia and borderline hip dysplasia included centre edge angle in 72% of studies but the range of angles were quite variable. Although 89% of studies reported improved post-operative outcome scores in the setting of hip dysplasia, revision rates were considerable (14.1%), with 9.6% requiring conversion to total hip arthroplasty. Conclusion The available orthopaedic literature suggests that although improved outcomes are seen in hip arthroscopy in the setting of hip dysplasia, there is a high rate of re-operation and conversion to total hip arthroplasty. Furthermore, the criteria used to define hip dysplasia vary considerably among published studies. Cite this article: M. Yeung, M. Kowalczuk, N. Simunovic, O. R. Ayeni. Hip arthroscopy in the setting of hip dysplasia: A systematic review. Bone Joint Res 2016;5:225–231. DOI: 10.1302/2046-3758.56.2000533. PMID:27313136

  10. Changes in walking and running in patients with hip dysplasia

    OpenAIRE

    Jacobsen, Julie S; Nielsen, Dennis B; Sørensen, Henrik; Søballe, Kjeld; Mechlenburg, Inger

    2013-01-01

    Background and purpose Earlier studies have suggested that the hip extension angle and the hip flexor moment in walking are affected by hip dysplasia, but to our knowledge there have been no reports on running or evaluations of self-reported health. We evaluated differences in walking, running, and self-reported health between young adults with symptomatic hip dysplasia and healthy controls. Patients and methods Walking and running in 32 patients with hip dysplasia, mean 34 (18–53) years old,...

  11. Ectrodactyly-ectodermal dysplasia-cleft lip and palate syndrome

    OpenAIRE

    Reema Sharma Dhar; Amitava Bora

    2014-01-01

    Ectrodactyly-ectodermal dysplasia-cleft (EEC) syndrome is an autosomal dominant disorder characterized by the triad of ectrodactyly-ectodermal dysplasia, and facial clefting along with some associated features. Presence of all the three major features in a single individual is extremely rare. We report a case of 4 year 11 months old child with EEC syndrome having ectodermal dysplasia-cleft lip and cleft palate and ectrodactyly with some associated features. Clinical features, diagnosis and ro...

  12. Frequency of Developmental Hip Dysplasia in a Training Hospital

    OpenAIRE

    Emrah Can; İlhan Asya Tanju; Cihan Meral

    2010-01-01

    Aim: We aimed to determine the frequency of cases with developmental hip dysplasia during the neonatal period and the associated risk factors. Methods: Hip ultrasound images of 258 full-term newborns aged one month were evaluated prospectively in conjunction with physical examination for developmental hip dysplasia in GATA well baby outpatient clinic. Results: The incidence of developmental hip dysplasia was 0.3% in one-month-old, healthy, full-term babies included in ...

  13. Radicular Dentin Dysplasia Associated with Enamel Hypoplasia

    International Nuclear Information System (INIS)

    The author observed a rare case of radicular dentin dysplasia associated with enamel hypoplasia in a 11-year-old boy with a complaint of gum boil formation. 1. Clinically, yellowish-brown colored teeth with severe attrition and several gum boils were observed. 2. Radiographically, obliteration of pulp chamber and root canal, multiple periapical radiolucencies without obvious cause and blunt roots were observed. 3. Systemically, scalp hair and eyebrows were loose and short. And saddle nose could be also seen.

  14. Fetal MR imaging of Kniest dysplasia

    Energy Technology Data Exchange (ETDEWEB)

    Yazici, Zeynep [Uludag University, Faculty of Medicine, Department of Radiology, Gorukle (Turkey); Kline-Fath, Beth M.; Laor, Tal [Cincinnati Children' s Hospital Medical Center, Department of Radiology, Cincinnati, OH (United States); Tinkle, Bradley T. [Cincinnati Children' s Hospital Medical Center, Division of Human Genetics, Cincinnati, OH (United States)

    2010-03-15

    We present a case of Kniest dysplasia, a rare form of the type II collagenopathies, with prenatal MRI. Sonography revealed only short limbs in the fetus. Fetal MRI findings included enlarged hyaline cartilaginous structures with abnormally high T2 signal intensity, delayed ossification of the pubic and ischial bones, and platyspondyly. By delineating the cartilaginous abnormalities, fetal MRI can contribute to the prenatal diagnosis of chondrodysplasias. (orig.)

  15. Coronary Artery Manifestations of Fibromuscular Dysplasia

    OpenAIRE

    Michelis, Katherine C.; Olin, Jeffrey W.; Kadian-Dodov, Daniella; D’Escamard, Valentina; Kovacic, Jason C.

    2014-01-01

    Fibromuscular dysplasia (FMD) involving the coronary arteries is an uncommon but important condition that can present as acute coronary syndrome, left ventricular dysfunction, or potentially sudden cardiac death. Although the classic angiographic “string of beads” that may be observed in renal artery FMD does not occur in coronary arteries, potential manifestations include spontaneous coronary artery dissection, distal tapering or long, smooth narrowing that may represent dissection, intramur...

  16. Color Doppler imaging of cervicocephalic fibromuscular dysplasia

    OpenAIRE

    Grzyska Ulrich; Arning Christian

    2004-01-01

    Abstract Background Fibromuscular dysplasia (FMD) is a possible cause of stroke, especially in middle-aged women. However, only few reports are available on ultrasonographic detection and monitoring. Methods Among the 15,000 patients who underwent color Doppler imaging (CDI) of the cervicocephalic arteries during the study period, all cases fulfilling ultrasound criteria of FMD were included into the case series. Criteria of FMD were: 1. Segmental string-of-beads pattern, 2. Localization in t...

  17. Invasive treatment for carotid fibromuscular dysplasia

    OpenAIRE

    Tekieli, Łukasz M.; Maciejewski, Damian R.; Dzierwa, Karolina; Kabłak-Ziembicka, Anna; Michalski, Michał; Wójcik-Pędziwiatr, Magdalena; Brzychczy, Andrzej; Moczulski, Zbigniew; Żmudka, Krzysztof; Pieniążek, Piotr

    2015-01-01

    Introduction Fibromuscular dysplasia (FMD) is an infrequent non-inflamatory disease of unknown etiology that affects mainly medium-size arteries. The prevalence of FMD among patients scheduled for endovascular treatment of carotid artery stenosis is unknown. Aim To evaluate the prevalence and treatment options of carotid FMD in patients scheduled for carotid artery stenting (CAS). Material and methods Between Jan 2001 and Dec 2013, 2012 CAS procedures were performed in 1809 patients (66.1% me...

  18. Epilepsy, Acquired Aphasia with Focal Cortical Dysplasia

    Directory of Open Access Journals (Sweden)

    Girija A.S

    1999-01-01

    Full Text Available A six year old boy having complex partial seizures with secondary generalization of four months duration developing isolated expressive dysphasia, later progressing to global aphasia is being reported. His awake EEG showed a left temporal spike wave discharge and sleep EEG showed continuous spike and ware discharges. MR imaging demonstrated focal cortical dysplasia in the left frontal and opercular region, a combination that has not been reported earlier.

  19. Hereditary mucoepithelial dysplasia and severe respiratory distress

    OpenAIRE

    Mahmoud Halawa; Abu-Hasan, Mutasim N; ElMallah, Mai K.

    2015-01-01

    Hereditary mucoepithelial dysplasia (HMD) is a rare autosomal dominant disorder characterized by mucoepithelial disruption of the skin, hair and mucous membranes. It results from defective gap junction formation and leads to non-scarring alopecia, mucosal erythema, perineal erythematous intertrigo, involvement of the conjunctival mucosa, and pulmonary disease. We present a case of severe respiratory distress in an initially healthy full term infant born to a mother with HMD. This infant later...

  20. Histogenesis of retinal dysplasia in trisomy 13

    OpenAIRE

    Gonzalez-Fernandez Federico; Heffner Reid; Lakshminrusimha Satyan; Chan Ada

    2007-01-01

    Abstract Background Although often associated with holoprosencephaly, little detail of the histopathology of cyclopia is available. Here, we describe the ocular findings in a case of trisomy 13 to better understand the histogenesis of the rosettes, or tubules, characteristic of the retinal dysplasia associated with this condition. Methods A full pediatric autopsy was performed of a near term infant who died shortly after birth from multiple congenital anomalies including fused facial-midline ...

  1. Monostotic fibrous dysplasia with Raynaud's phenomenon.

    Science.gov (United States)

    Kumar, K V S Hari; Aravinda, K; Narayanan, K

    2015-01-01

    Fibrous dysplasia (FD) is a benign bone disorder characterized by alteration in bone morphology. Monostotic FD is the commonest variant and affects the craniofacial bones. Raynaud's phenomenon is recurrent vasospasm of the fingers and toes due to cold exposure. The disease is usually idiopathic or secondary to connective tissue disorders. Raynaud's phenomenon is not described previously with FD. We recently encountered two interesting patients of craniofacial monostotic FD with Raynaud's phenomenon and report the same in this report.

  2. A Case Report of Camptomelic Dysplasia

    Directory of Open Access Journals (Sweden)

    Zia Islami

    2011-09-01

    Full Text Available Camptomelic Dysplasia (CMD is a rare autosomal dominant congenital dwarfism characterized by shortness and bowing of long bones (camptomelia and other severe skeletal and extra skeletal malformations. CMD is generally considered to be lethal and the majority of cases die in the neonatal period due to respiratory insufficiency.We hereunder report a term male neonate with characteristic clinical and radiological findings of CMD, hydrocephaly, no sex reversal, and a negative family history of skeletal problems who was born to non-consanguineous  healthy parents and was admitted to Shahid Sadoughi Hospital, Yazd, Iran,immediately after birth due to respiratory distress.The patient required continuous mechanical ventilation support and all attempts to reduce respiratory support failed and the patient died on the 21th day of his life. Camptomelic Dysplasia is a terrible experience for parents; thus, prenatal diagnosis of CMD by ultrasound is essential and mandatory for a better therapeutic intervention.Key words: Camptomelic dysplasia; dwarfism/congenital; bowing of longbones; sex-reversal

  3. Development of lung function in very low birth weight infants with or without bronchopulmonary dysplasia: Longitudinal assessment during the first 15 months of corrected age

    Directory of Open Access Journals (Sweden)

    Schmalisch Gerd

    2012-03-01

    Full Text Available Abstract Background Very low birth weight (VLBW infants ( Methods Comprehensive lung function assessment was performed at about 50, 70, and 100 weeks of postmenstrual age in 55 sedated VLBW infants (29 with former BPD [O2 supplementation was given at 36 weeks of gestational age] and 26 VLBW infants without BPD [controls]. Mean gestational age (26 vs. 29 weeks, birth weight (815 g vs. 1,125 g, and the proportion of infants requiring mechanical ventilation for ≥7 d (55% vs. 8%, differed significantly between BPD infants and controls. Results Both body weight and length, determined over time, were persistently lower in former BPD infants compared to controls, but no significant between-group differences were noted in respiratory rate, respiratory or airway resistance, functional residual capacity as determined by body plethysmography (FRCpleth, maximal expiratory flow at the FRC (V'max FRC, or blood gas (pO2, pCO2 levels. Tidal volume, minute ventilation, respiratory compliance, and FRC determined by SF6 multiple breath washout (representing the lung volume in actual communication with the airways were significantly lower in former BPD infants compared to controls. However, these differences became non-significant after normalization to body weight. Conclusions Although somatic growth and the development of some lung functional parameters lag in former BPD infants, the lung function of such infants appears to develop in line with that of non-BPD infants when a body weight correction is applied. Longitudinal lung function testing of preterm infants after discharge from hospital may help to identify former BPD infants at risk of incomplete recovery of respiratory function; such infants are at risk of later respiratory problems.

  4. The Angiotensin Converting Enzyme Insertion/Deletion polymorphism is not associated with an increased risk of death or bronchopulmonary dysplasia in ventilated very low birth weight infants

    Directory of Open Access Journals (Sweden)

    Baier R John

    2004-12-01

    Full Text Available Abstract Background The ACE gene contains a polymorphism consisting of either the presence (insertion, I or absence (deletion, D of a 287 bp alu repeat in intron 16. The D allele is associated with increased ACE activity in both tissue and plasma. The DD genotype is associated with risk of developing ARDS and mortality. The frequency of the D allele is higher in patients with pulmonary fibrosis, sarcoidosis and berylliosis. The role of this polymorphism has not been studied in the development of BPD in the premature newborn. Methods ACE I/D genotype was determined in 245 (194 African-American, 47 Caucasian and 4 Hispanic mechanically ventilated infants weighing less than 1250 grams at birth and compared to outcome (death and/or development of BPD. Results The incidence of the D allele in the study population was 0.58. Eighty-eight (35.9% infants were homozygous DD, 107 (43.7% were heterozygous ID and 50 (20.4% were homozygous II. There were no significant differences between genotype groups with respect to ethnic origin, birth weight, gestation, or gender. There was no effect of the ACE I/D polymorphism on mortality or development of BPD (O2 on 28 days or 36 weeks PCA. Secondary outcomes (intraventricular hemorrhage and periventricular leukomalacia similarly were not influenced by the ACE ID polymorphism. Conclusions The ACE I/D polymorphism does not significantly influence the development of BPD in ventilated infants less than 1250 grams.

  5. Brochopulmonary dysplasia: New high resolution computed tomography scorting system and correlation between the high resolution computed tomography score and clinical severity

    Energy Technology Data Exchange (ETDEWEB)

    Shin, Sumi; Kim, Woo Sun; Cheon, Jung Eun; Kim, Han Suk; Lee, Whal; Jung, Ah Young; Kim, In One; Choi, Jung Hwan [Seoul National University College of Medicine, Seoul (KR)

    2013-04-15

    To develop an high resolution computed tomography (HRCT) scoring system for the assessment of bronchopulmonary dysplasia (BPD) and determine its usefulness as compared with the chest radiographic score. Forty-two very low-birth-weight preterm infants with BPD (25 male, 17 female) were prospectively evaluated with HRCT performed at the mean age of 39.1-week postmenstrual age. Clinical severity of BPD was categorized as mild, moderate or severe. The HRCT score (0-36) of each patient was the sum of the number of bronchopulmonary segments with 1) hyperaeration and 2) parenchymal lesions (linear lesions, segmental atelectasis, consolidation and architectural distortion), respectively. We compared the HRCT scores with the chest radiographic scores (the Toce system) in terms of correlation with clinical severity. The HRCT score had good interobserver (r = 0.969, p < 0.001) and intraobserver (r = 0.986, p < 0.001) reproducibility. The HRCT score showed better correlation (r = 0.646, p < 0.001) with the clinical severity of BPD than the chest radiographic score (r = 0.410, p = 0.007). The hyperaeration score showed better correlation (r = 0.738, p < 0.001) with the clinical severity of BPD than the parenchymal score (r = 0.523, p < 0.001). We have developed a new HRCT scoring system for BPD based on the quantitative evaluation of pulmonary abnormalities of BPD consisting of the hyperaeration score and the parenchymal score. The HRCT score shows better correlation with the clinical severity of BPD than the radiographic score.

  6. Sinobronchial allergic aspergillosis with allergic bronchopulmonary aspergillosis: a less common co-existence

    Science.gov (United States)

    Upadhyay, Rashmi; Kant, Surya; Prakash, Ved; Saheer, S

    2014-01-01

    Allergic bronchopulmonary aspergillosis (ABPA) is an immunological pulmonary disorder that is characterised by a hyper-responsiveness of the airways to Aspergillus fumigatus. Although several other fungi may also present with similar clinical conditions, Aspergillus remains the most common fungal pathogen causing airway infections. Co-existence of ABPA with allergic Aspergillus sinusitis (AAS) is an uncommon presentation. The concept of one airway/one disease justifies the co-existence of ABPA with AAS, but it does not always hold true. We report a case of a 35-year-old woman who presented with symptoms suggestive of bronchial asthma. On further investigation, the radiological pattern showed fleeting shadows and CT scan showed central cystic bronchiectatic changes characteristic of ABPA. The nasal secretions were investigated for the presence of Aspergillus and were found to be positive. Hence a diagnosis of ABPA with AAS was established. The patient was treated with oral steroids and antifungal drugs. PMID:25371437

  7. Multiple bronchoceles in a non-asthmatic patient with allergic bronchopulmonary aspergillosis.

    Science.gov (United States)

    Amin, Muhammad Umar; Mahmood, Rabia

    2008-09-01

    Allergic bronchopulmonary aspergillosis (ABPA) is a hypersensitivity reaction due to a fungus, Aspergillus fumigatus. It is typically seen in patients with long-standing asthma. Our patient was a non-asthmatic 18 years old male who presented with chronic cough for 2 years. Peripheral blood eosinophilia and elevated scrum IgE were observed. His x-ray chest revealed v-shaped opacity in the left upper lobe close to the hilum. High resolution computed tomographic scan of the chest revealed multiple dilated bronchi filled with mucous (bronchoceles) and central bronchiectasis (CB) involving main segmental bronchi. Central bronchiectasis (CB) was typical of ABPA but bronchocele formation was a rare manifestation of the disease. The patient was managed with oral prednisolone and was relieved of his symptoms. Occurrence of ABPA in non-asthmatics is very rare and deserves reporting. PMID:18846804

  8. Allergic bronchopulmonary aspergillosis (ABPA): studies on the general and specific humoral response.

    Science.gov (United States)

    Sandhu, R S; Bardana, E J; Khan, Z U; Dordevich, D M

    1978-04-14

    Serum specimens from 138 patients suffering from chronic respiratory disorders including 63 with allergic bronchopulmonary aspergillosis (ABPA), 2o with suspected ABPA, 15 with pulmonary tuberculosis, 14 with bronchial asthma, 10 with chronic bronchitis and 6 with miscellaneous pulmonary conditions were studied for circulating antibodies to Aspergillus. The ammonium sulfate test was empolyed with an iodine-125 labeled mycelial component derived from Aspergillus fumigatus. When compared to normal controls from the same area, this test indicated that sera from 82 per cent of patients with ABPA had elevated binding titers to the radiolabeled antigenic component. Immunodiffusion using a culture filtrate antigen from A. fumigatus, revealed precipitating antibody to this fungus in 89 percent of sera from ABP patients. The majority of patients with ABPA demonstrated marked elevations of total serum IgE, moderate elevations of serum IgA and IgD and slightly increased levels of IgG and IgM. PMID:652026

  9. Use of Nebulized Amphotericin B in the Treatment of Allergic Bronchopulmonary Aspergillosis in Cystic Fibrosis

    Directory of Open Access Journals (Sweden)

    M. Proesmans

    2010-01-01

    Full Text Available Background. Systemic steroids and adjunctive antifungal therapy are the cornerstone in treating allergic bronchopulmonary aspergillosis (ABPA in the context of CF. Aim. Evaluate the use of inhaled amphotericin B (iAMB as antifungal agent in this context. Methods. Report of 7 CF patients with recurrent or difficult to treat ABPA and failure to taper systemic corticosteroids treated with AMB deoxycholate (AMB-d (Fungizone 25 mg 3× a week or AMB lipid complex (ABLC (Abelcet 50 mg twice weekly. Successful therapy was defined as steroid withdrawal without ABPA relapse within 12 months. Results. Therapy was successful in 6 of 7 patients treated with iAMB. In 5/6, lung function improved. The patient with treatment failure has concomitant MAC lung infection. Conclusion. Inhaled AMB may be an alternative to commonly used adjunctive antifungal therapy in the treatment of ABPA. More data are needed on safety and efficacy.

  10. Marfan syndrome with multiseptate pneumothorax and mandibular fibrous dysplasia

    OpenAIRE

    Kate A; Gothi D; Joshi J

    2009-01-01

    We describe a rare case of pneumothorax due to Marfan syndrome associated with fibrous dysplasia of the mandible. Marfan syndrome and fibrous dysplasia were possibly due to a common etiological factor. The association between the two and other tumors described in literature related to Marfan syndrome is discussed.

  11. Marfan syndrome with multiseptate pneumothorax and mandibular fibrous dysplasia

    Directory of Open Access Journals (Sweden)

    Kate A

    2009-01-01

    Full Text Available We describe a rare case of pneumothorax due to Marfan syndrome associated with fibrous dysplasia of the mandible. Marfan syndrome and fibrous dysplasia were possibly due to a common etiological factor. The association between the two and other tumors described in literature related to Marfan syndrome is discussed.

  12. The role of the acetabular labrum in hip dysplasia

    DEFF Research Database (Denmark)

    Hartig-Andreasen, Charlotte; Søballe, Kjeld; Troelsen, Anders

    2013-01-01

    A periacetabular osteotomy (PAO) is the preferred joint preserving treatment for young adults with symptomatic hip dysplasia and no osteoarthritis. In symptomatic dysplasia of the hip, there is labral pathology in up to 90% of cases. However, no consensus exists as to whether a labral tear should...

  13. Endoscopic options for treatment of dysplasia in Barrett's esophagus.

    Science.gov (United States)

    Vance, R Brooks; Dunbar, Kerry B

    2015-12-25

    Recent advances in the endoscopic treatment of dysplasia in Barrett's esophagus (BE) have allowed endoscopists to provide effective and durable eradication therapies. This review summarizes the available endoscopic eradication techniques for dysplasia in patients with BE including endoscopic mucosal resection, endoscopic submucosal dissection, photodynamic therapy, argon plasma coagulation, radiofrequency ablation and cryotherapy. PMID:26722612

  14. Congenital bronchopulmonary malformations: A single-center experience and a review of literature

    Directory of Open Access Journals (Sweden)

    Kumar Basant

    2008-01-01

    Full Text Available Purpose: To present a single-center experience with 25 cases of bronchopulmonary malformations and the review the literature. Materials and Methods: We conducted a retrospective analysis of the medical records of patients with congenital bronchopulmonary malformations who were operated between July 1997 and July 2007 in our institute; we examined the modes of presentations, management, and outcome. Outcome of all patients was assessed over a short follow-up period (average 1.8 months. Results: Out of 25 patients, 18 (72% were male and 7 (28% were female. Age of patients ranged from 1 day to 11 years. The histopathological diagnosis was congenital cystic adenomatoid malformations [CCAM; n = 14 (56%], congenital lobar emphysema [CLE; n = 5 (20%], pulmonary sequestrations [PS; n = 3 (12%], and bronchogenic cysts [BC; n = 3 (12%]. Antenatal diagnosis was available in only 2 (8% patients. The common presenting symptoms were respiratory distress and chest infections. Lobectomy was the procedure of choice . Mortality was 16% (n = 4; M: F = 3: 1. Two patients died because of overwhelming sepsis, one from compromised cardiac function, and one from aspiration which might possibly have been prevented. Conclusion: Patients with progressive respiratory distress due to these anomalies may require urgent surgical intervention regardless of age. The surgical outcome is favorable, with manageable complications. Plain x-ray chest and CT of thorax are usually sufficient for diagnosis and planning of treatment. Pathological diagnosis may differ from the imaging diagnosis. Mortality is found to be more in neonates. Apart from initial stabilization, resection of lesion and careful postoperative care is necessary to reduce mortality and morbidity.

  15. Dyssegmental dysplasia in siblings: Prenatal ultrasonic diagnosis

    Energy Technology Data Exchange (ETDEWEB)

    Andersen, P.E. Jr.; Hauge, M.; Bang, J.

    1988-01-01

    Two cases of dyssegmental dysplasia (type Silverman-Handmaker) in siblings are presented. The first-born died at the age of 3 months and the second fetus was followed during pregnancy with ultrasound examinations. In the 20th week of gestation marked shortening of the extremities was found; a female infant showing the same radiologic bony malformations as the firstborn was born by cesarean section. These cases support the autosomal recessive inheritance and demonstrate the possibility of prenatal diagnosis in this type of micromelic dwarfism. (orig.)

  16. Hip osteoarthritis and dysplasia in Chinese men.

    OpenAIRE

    Lau, E. M.; Lin, F.; Lam, D; Silman, A.; Croft, P.

    1995-01-01

    OBJECTIVE--To estimate the prevalence of hip osteoarthritis (OA hip) and hip dysplasia in a sample of Hong Kong men who were unselected with respect to hip symptoms. METHODS--The postmicturition films of 999 men aged 60-75 years, consecutive attenders for intravenous urography between 1987 and 1990 at a regional hospital, were reviewed. OA hip was diagnosed as the occurrence of two or more features of OA using a modified version of the Kellgren and Lawrence scale, or a minimal joint space of ...

  17. Hereditary mucoepithelial dysplasia and severe respiratory distress

    Directory of Open Access Journals (Sweden)

    Mahmoud Halawa

    2015-01-01

    Full Text Available Hereditary mucoepithelial dysplasia (HMD is a rare autosomal dominant disorder characterized by mucoepithelial disruption of the skin, hair and mucous membranes. It results from defective gap junction formation and leads to non-scarring alopecia, mucosal erythema, perineal erythematous intertrigo, involvement of the conjunctival mucosa, and pulmonary disease. We present a case of severe respiratory distress in an initially healthy full term infant born to a mother with HMD. This infant later developed signs and symptoms of HMD. A high index of suspicion for pulmonary infection with atypical organism is essential in infants with a family history of HMD who present with respiratory distress.

  18. Tibia Vara due to Focal Fibrocartilaginous Dysplasia

    Directory of Open Access Journals (Sweden)

    A Tavakoli

    2004-06-01

    Full Text Available We present a case of unilateral tibia vara associated with an area of focal fibrocartilaginous dysplasia in the medial aspect of the right proximal tibia. Such a case has not been described previously. The affected child was 8 months old. Deformity resolved without aggressive treatment. The pathogenesis of the focal lesion remains controversial. The most likely explanation is that the mesenchymal anlage of the tibial metaphysis has for unknown reasons, developed abnormality at the insertion of the pes anserinus. Keywords: Tibia Vara, Pes Anserinus

  19. The effect of breeding schemes on the genetic response of canine hip dysplasia, elbow dysplasia, appearance and behaviour traits

    NARCIS (Netherlands)

    Mäki, K.; Liinamo, A.E.; Groen, A.F.; Bijma, P.; Ojala, M.

    2005-01-01

    Current dog breeding programmes must be changed if genetic improvement in health and behaviour traits is to be achieved. A computer simulation programme was used to assess the possible genetic improvement in hip dysplasia (HD), elbow dysplasia (ED) and behaviour (BE) traits in a dog population whils

  20. Non-adenomatous forms of gastro-oesophageal epithelial dysplasia: an under-recognised entity?

    Science.gov (United States)

    Serra, Stefano; Chetty, Runjan

    2014-10-01

    Foveolar dysplasia is an uncommon form of dysplasia that is encountered in the stomach and oesophagus in the context of Barrett’s oesophagus. Glands displaying foveolar dysplasia also show architectural abnormalities that are similar to those encountered in adenomatous dysplasia. However, from a cytological point of view, foveolar dysplasia glands are lined by low-cuboidal to columnar epithelium, the cytoplasm is often clear with round-to-oval nuclei. Nuclear stratification as seen in adenomatous dysplasia is not common, although there is loss of nuclear polarity, pleomorphism and mitotic activity. It is important to distinguish low-grade foveolar dysplasia from regenerative change.

  1. A Case of Extensive polyostotic fibrous dysplasia

    International Nuclear Information System (INIS)

    Fibrous dysplasia is a benign disorder of bone consisting of intramedullary proliferation of fibrous tissue and irregularly distributed, poorly developed bone. The disease manifests itself in the monostotic form in which only one bone is involved and the polyostotic form in which multiple bones at different sites are affected. We reported a extensive case of polyostotic fibrous dysplasia with involvement of craniofacial bones, mandible, ribs, extremities. A 18-year-old man showed remarkable right facial swelling who had been treated on right femur 3 years ago with a bone graft for pathologic fracture and he recognized facial swelling 5 years ago. Extraoral radiograms and computed tomogram showed diffuse sclerosis with a ground glass appearance of the most calvarial bones, facial bones. The right mandibular lesion showed very expansible lesion with mottled appearance. Bone scans showed multifocal increased uptakes in craniofacial bones, right mandible, bilaterally in ribs, humerus, femur, tibia and characteristic various deformity of right femur (shepherd's crook deformity). This case showed exceptionally bilateral, extensive nature of bone lesion and didn't show any features of skin pigmentation and endocrine disturbances.

  2. [Polyostotic fibrous dysplasia. A clinical case report].

    Science.gov (United States)

    Gallesio, C; Tagliabue, M; Mazzeo, R; De Gioanni, P P

    1996-11-01

    The authors present a severe case of polyostotic fibrous dysplasia in which there was considerable involvement of cranial bone and facial skeleton. Numerous lesions were present at the level of the long bones of limbs. Endocrine dysfunction was also present in the form of a hypophyseal adenoma secreting prolactin and ACTH. The concomitance of acromegaly or gigantism and/or hyperprolactinemia and polyostotic fibrous dysplasia has only been reported to date in a few cases in literature. The authors describe the appearance of the subject, correlating clinical photographs with X-rays. They report the clinical excursus of the patient characterised by the gradual increase in deformities which seriously jeopardized the patient's relational life, in particular the appearance of a bulk on the forehead and checks and the deformation of the symphyseal portion of the mandible with presence of interdental diastemata. The patient also complained diplopia, difficulty in chewing owing to the mobilisation of teeth, and increasing bone pain probably due to nerve compression by exuberant bone. It was not possible to perform corrective surgery owing to the patient's overall poor health conditions. In fact, dilatative cardiomyopathy which continued to worsen in spite of numerous forms of medical treatment resulted in the patient's death owing to cardiac decompensation. Even the attempt to treat the patient's primary endocrine dysfunction using bromocryptine and subsequently octreotide failed to produce positive results owing to the onset of collateral effects which led to the early suspension of treatment. PMID:9026699

  3. Placental Mesenchymal Dysplasia: A Case Report

    Directory of Open Access Journals (Sweden)

    Rachna Agarwal

    2012-01-01

    Full Text Available Introduction. A rare case of histologically proven placental mesenchymal dysplasia (PMD with fetal omphalocele in a 22-year-old patient is reported. Material and Methods. Antenatal ultrasound of this patient showed hydropic placenta with a live fetus of 17 weeks period of gestation associated with omphalocele. Cordocentesis detected the diploid karyotype of the fetus. Patient, when prognosticated, choose to terminate the pregnancy in view of high incidence of fetal and placental anomalies. Subsequent histopathological examination of placenta established the diagnosis to be placental mesenchymal dysplasia. Conclusion. On clinical and ultrasonic grounds, suspicion of P.M.D. arises when hydropic placenta with a live fetus presents in second trimester of pregnancy. Cordocentesis can detect the diploid karyotype of the fetus in such cases. As this condition is prognostically better than triploid partial mole, continuation of pregnancy can sometimes be considered after through antenatal screening and patient counseling. However, a definite diagnosis of P.M.D. is made only on placental histology by absence of trophoblast hyperplasia and trophoblastic inclusions.

  4. A Case of Extensive polyostotic fibrous dysplasia

    Energy Technology Data Exchange (ETDEWEB)

    Lee, Byung Do [Dept. of Oral and Maxillofacial Radiology, School of Dentistry, Wonkwang University, Iksan (Korea, Republic of); Hwang, Eui Hwan; Lee, Sang Rae [Dept. of Oral and Maxillofacial Radiology, School of Dentistry, Kyunghee University, Seoul (Korea, Republic of)

    2000-06-15

    Fibrous dysplasia is a benign disorder of bone consisting of intramedullary proliferation of fibrous tissue and irregularly distributed, poorly developed bone. The disease manifests itself in the monostotic form in which only one bone is involved and the polyostotic form in which multiple bones at different sites are affected. We reported a extensive case of polyostotic fibrous dysplasia with involvement of craniofacial bones, mandible, ribs, extremities. A 18-year-old man showed remarkable right facial swelling who had been treated on right femur 3 years ago with a bone graft for pathologic fracture and he recognized facial swelling 5 years ago. Extraoral radiograms and computed tomogram showed diffuse sclerosis with a ground glass appearance of the most calvarial bones, facial bones. The right mandibular lesion showed very expansible lesion with mottled appearance. Bone scans showed multifocal increased uptakes in craniofacial bones, right mandible, bilaterally in ribs, humerus, femur, tibia and characteristic various deformity of right femur (shepherd's crook deformity). This case showed exceptionally bilateral, extensive nature of bone lesion and didn't show any features of skin pigmentation and endocrine disturbances.

  5. 302 Screening for Allergic Bronchopulmonary Aspergillosis in Patients with Aspergillus + Asthma From 2000 to 2010

    OpenAIRE

    Greenberger, Paul

    2012-01-01

    Background Approximately 25% of patients with persistent asthma have immediate skin reactivity to Aspergillus species. The purpose of this study was to screen all patients with immediate hypersensitivity to Aspergillus for evidence of Allergic Bronchopulmonary Aspergillosis (ABPA). Methods All patients with asthma underwent immediate cutaneous testing including prick (epicutaneous) with a mix of Aspergillus species and if negative, intradermal at 1000 PNU/mL, Aspergillus fumigatus (Af). Sera ...

  6. Human papillomavirus (HPV) in vulvar dysplasia and carcinoma in situ

    DEFF Research Database (Denmark)

    Junge, Jette; Poulsen, H; Horn, T;

    1995-01-01

    Surgical specimens from 62 patients with vulvar dysplasia and carcinoma in situ were morphologically investigated. Lesions were classified according to WHO (mild, moderate, severe dysplasia and carcinoma in situ) and according to Toki et al. (1991) (warty, basaloid, combined warty/basaloid or bas....... No case revealed more than one type of HPV. HPV type 6, 11, 18, and 31 were not detected by PCR. The results indicate a correlation between HPV type 16 and 33 and dysplasia/carcinoma in situ in the vulva....

  7. Focal cemento-osseous dysplasia masquerading as a residual cyst

    Directory of Open Access Journals (Sweden)

    Rajat Bhandari

    2012-01-01

    Full Text Available Focal cemento-osseous dysplasia (FCOD is a benign fibroosseous condition that can be seen in dentulous and edentulous patients. It is an asymptomatic lesion and needs no treatment; however, follow-up is essential due to the possibility that it can progress to a condition called florid cemento-osseous dysplasia. We report a case of FCOD of mandible in a 25-year-old female. Clinically, the lesion resembled periapical pathosis of odontogenic origin. An attempt has been made to discuss the clinical and histopathologic features along with differential diagnosis of cemento-osseous dysplasia.

  8. Geleophysic dysplasia associated with bilateral angle closure glaucoma

    Directory of Open Access Journals (Sweden)

    Murat Sinan Saricaoglu

    2013-01-01

    Full Text Available In this case report, we present occurrence of bilateral angle closure glaucoma in a 9-year-old girl with geleophysic dysplasia. Bilateral YAG laser iridotomy was applied, but intraocular pressure (IOP remained at high levels, necessitating bilateral trabeculectomy with mitomycin C. On her follow-up examinations for 3 years, IOP remained in the mid-20s with no need for further intervention or antiglaucoma medication. There are few reports describing the ocular findings of geleophysic dysplasia in literature. To our knowledge, this is the first case report describing an application of glaucoma surgery and its results at geleophysic dysplasia.

  9. Bilateral Cerebellar Cortical Dysplasia without Other Malformations: A Case Report

    Energy Technology Data Exchange (ETDEWEB)

    Oh, Jung Seok; Ahn Kook Jin; Kim, Jee Young; Lee, Sun Jin; Park, Jeong Mi [Catholic University Yeouido St. Mary' s Hospital, College of Medicine, Seoul (Korea, Republic of)

    2010-06-15

    Recent advances in MRI have revealed congenital brain malformations and subtle developmental abnormalities of the cerebral and cerebellar cortical architecture. Typical cerebellar cortical dysplasia as a newly categorized cerebellar malformation, has been seen in patients with Fukuyama congenital muscular dystrophy. Cerebellar cortical dysplasia occurs at the embryonic stage and is often observed in healthy newborns. It is also incidentally and initially detected in adults without symptoms. To the best of our knowledge, cerebellar dysplasia without any related disorders is very rare. We describe the MRI findings in one patient with disorganized foliation of both cerebellar hemispheres without a related disorder or syndrome

  10. Ectrodactyly-ectodermal dysplasia-cleft lip and palate syndrome

    Directory of Open Access Journals (Sweden)

    Reema Sharma Dhar

    2014-01-01

    Full Text Available Ectrodactyly-ectodermal dysplasia-cleft (EEC syndrome is an autosomal dominant disorder characterized by the triad of ectrodactyly-ectodermal dysplasia, and facial clefting along with some associated features. Presence of all the three major features in a single individual is extremely rare. We report a case of 4 year 11 months old child with EEC syndrome having ectodermal dysplasia-cleft lip and cleft palate and ectrodactyly with some associated features. Clinical features, diagnosis and role of a dentist in the multidisciplinary treatment approach have been elaborated in this case report.

  11. Ectrodactyly-ectodermal dysplasia-cleft lip and palate syndrome.

    Science.gov (United States)

    Dhar, Reema Sharma; Bora, Amitava

    2014-01-01

    Ectrodactyly-ectodermal dysplasia-cleft (EEC) syndrome is an autosomal dominant disorder characterized by the triad of ectrodactyly-ectodermal dysplasia, and facial clefting along with some associated features. Presence of all the three major features in a single individual is extremely rare. We report a case of 4 year 11 months old child with EEC syndrome having ectodermal dysplasia-cleft lip and cleft palate and ectrodactyly with some associated features. Clinical features, diagnosis and role of a dentist in the multidisciplinary treatment approach have been elaborated in this case report. PMID:25231046

  12. Radiological features of bilateral hereditary micro-epiphyseal dysplasia - a distinct entity in the skeletal dysplasias

    Energy Technology Data Exchange (ETDEWEB)

    Mostert, A.K. [Isala Clinics, Location Weezenlanden, Dept. of Orthopaedic Surgery, Zwolle (Netherlands); Dijkstra, P.F. [Jan van Breemen Inst., Dept. of Radiology, Amsterdam (Netherlands); Horn, J.R. van [Univ. Hospital Groningen, Dept. of Orthopaedic Surgery, Groningen (Netherlands); Jansen, B.R.H. [Reinier de Graaf Hospital, Dept. of Orthopaedic Surgery, Delft (Netherlands); Heutink, P. [Erasmus MCRotterdam, Dept. of Clinical Genetics, Rotterdam (Netherlands); Lindhout, D. [Univ. Medical Centre Utrecht, Dept. of Medical Genetics, Utrecht (Netherlands)

    2002-07-01

    Aim: To prove that bilateral hereditary micro-epiphyseal dysplasia (BHMED), first described by Elsbach in 1959, is a distinct disorder radiologically as well as clinically, compared with multiple epiphyseal dysplasia (MED). Material and Methods: We used the data of the revised pedigree with 84 family members, performed a medical history, physical examination and made a radiological evaluation for defining a clinical and radiological phenotype of BHMED family members. We used blood samples for genetic analysis. Results: Although there is a clear clinical picture of the dysplasia, the radiological signs are more reliable for making the diagnosis. Especially the typical deformity of the hip and knee joint are diagnostic for BHMED. By linkage analysis we excluded linkage with the three known MED-loci (EDM1, EDM2 and EDM3). Conclusion: BHMED is indeed an entity that is distinct from common multiple epiphyseal dysplasia (MED), clinically, as well as radiologically and genetically. (orig.) [German] Ziel: Es sollte dargelegt werden, dass sich eine vererbliche, laterale Mikro-Epiphysendysplasie (BHMED), Erstbeschreibung durch Elsbach 1959, klinisch, radiologisch und genetisch von einer mutiplen Epiphysendysplasie (MED) unterscheidet. Material und Methode: Anhand der Daten eines ueberarbeiteten Stammbaumes mit 84 Familienmitgliedern wurde der medizinische Werdegang rekonstruiert. Es erfolgte eine physische Untersuchung der Familienmitglieder. Schliesslich wurde eine radiologische Auswertung durchgefuehrt, um einen klinischen und radiologischen Phaenotyp der von BHMED betroffenen Familienmitglieder zu definieren. Fuer eine genetische Analyse wurden Blutproben entnommen. Ergebnisse: Obwohl es ein deutliches klinisches Bild einer Dysplasie gibt, sind die radiologischen Kennzeichen fuer die Diagnose zuverlaessiger. Insbesondere die typische Deformation der Huefte und des Kniegelenks ist diagnostisch fuer BHMED. Durch Linkage-Analyse konnte eine Verbindung zu den drei bekannten

  13. Ectodermal dysplasias: the p63 tail.

    Science.gov (United States)

    Tadini, G; Santagada, F; Brena, M; Pezzani, L; Nannini, P

    2013-02-01

    Various combinations of limb anomalies, ectodermal dysplasias and orofacial clefts characterize heterozygous mutations in the transcription factor gene p63. The causative gene is crucial during embryonic ontogenesis, mostly in the development of limbs and other ectodermal derived tissues. The pattern of mutations in six different p63-related syndromes (EEC syndrome, AEC syndrome, ADULT syndrome, LMS syndrome, RHS syndrome, SHFM syndrome) shows genotype-phenotype correlations. The most frequent p63 mutation syndrome is the EEC syndrome, characterized by ectrodactyly, ectodermal dysplasia and cleft lip/palate. Ectodermal dysplasia is characterized by ectrodactyly often associated with syndactyly, sparse hair, dry skin, hypo-anodontia, dysplastic nails and alterations in sebaceous glands, mammary glands and nipples. The third hallmark of the EEC syndrome is orofacial clefting, in particular lip and palate. p63 mutations also cause the other five inherited syndromes: symptoms are overlapping, but each of these diseases has its own characteristic phenotypic features: for instance AEC syndrome (ankyloblepharon-ectodermal defects-cleft lip/palate) has as distinctive feature ankyloblepharon, while mammary glands and nipples hypoplasia are frequent findings in LMS syndrome and in ADULT syndrome (acro-dermato-ungual-lacrimal-tooth syndrome). The latter can be distinguished from other p63 syndromes by the absence of orofacial clefting and by prominent ectodermal signs. The narrowest genotype-phenotype correlation is in the EEC and AEC syndromes. All EEC missense mutations are clustered in the DNA binding domain and do not bind to DNA; in contrast, all missens mutations reported in AEC syndrome are localized in the α-motif domain, and it has been demonstrated that they disrupt interaction with other proteins. LMS and ADULT syndrome have their own unique mutated amino-acid residues. Only two amino-acid residues are known to be mutated amongst ADULT syndrome: asparagines 6 and

  14. A rare genetic disease - spondyloepiphyseal dysplasia

    Institute of Scientific and Technical Information of China (English)

    YANG Bo; LIN Jin; JIN Jin; WENG Xi-sheng; ZHAO Qing; QIU Gui-xing

    2010-01-01

    @@ Spondyloepiphyseal dysplasia (SED) comprises a group of hereditary disorders caused by osteochondrodysplasia of the spine and long tubular bones owing to chromosome abnormalities,1 SED can be divided into two major types, termed SED congenita and SED tarda, according to the time of onset, and both types have some particular characteristics. SED is a rare genetic disorder with an incidence of 1-4 per million population,2 and is prone to be confused with other conditions of short stature. We collected and analyzed the clinical data for 6 patients with SED who were admitted to Peking Union Medical College Hospital for treatment between May 1995 and January 2006 in order to provide a relatively comprehensive recognition of this disease for doctors and to facilitate the definite diagnosis among patients with dwarfism.

  15. Emerging targeted drug therapies in skeletal dysplasias.

    Science.gov (United States)

    Yap, Patrick; Savarirayan, Ravi

    2016-10-01

    Quantum advances have occurred in the field of human genetics in the six decades since Watson and Crick expressed their "wish to suggest a structure for the salt of deoxyribose nucleic acid." These culminated with the human genome project, which has opened up myriad possibilities, including that of individualized genetic medicine, the ability to deliver medical advice, management, and therapy tailored to an individual's genetic blueprint. Advances in genetic diagnostic capabilities have been rapid, to the point where the genome can be sequenced for several thousand dollars. Crucially, it has facilitated the identification of targets for "precision" treatments to combat genetic diseases at their source. This manuscript will review the innovative, pathogenesis-based therapies that are revolutionizing management of skeletal dysplasias, giving patients and families new options and outcomes. © 2016 Wiley Periodicals, Inc. PMID:27155200

  16. PATHOLOGICAL AND MORPHOLOGICAL RESEARCH OF EXPERIMENTAL ACETABULAR DYSPLASIA

    Institute of Scientific and Technical Information of China (English)

    张自明; 马瑞雪; 吉士俊; 牛之彬

    2004-01-01

    Objective To investigate the pathological mechanism of hip dysplasia. Methods The left knee joints of eighteen rabbits were fixed in extending position with plaster cylinder for four weeks, but their hip joints were flexed. The right side served as control. Roentgenogram was made in all animals. The changes of the xray films and the pathological findings between left and right hips were compared. Results Appearance of hip dysplasia was obvious at four weeks after plaster fixation. There were pathological changes, including shallow acetabulum and flat femoral head, increased acetabular index and decreased acetabular head index on the x-ray films.Conclusion The hip dysplasia is the result of prolonged extending position of the knee joint. Abnormal knee posture seems to be one of the important factors of hip dysplasia. This kind of deformation may be worsened with time.

  17. New ECG Criteria in Arrhythmogenic Right Ventricular Dysplasia/Cardiomyopathy

    NARCIS (Netherlands)

    M.G.P.J. Cox; J.J. van der Smagt; A.A.M. Wilde; A.C.P. Wiesfeld; D.E. Atsma; M.R. Nelen; L.M. Rodriguez; P. Loh; M.J. Cramer; P.A. Doevendans; J.P. van Tintelen; J.M.T. de Bakker; R.N.W. Hauer

    2009-01-01

    Background-Desmosomal changes, electric uncoupling, and surviving myocardial bundles in fibrofatty tissue characterize arrhythmogenic right ventricular dysplasia/cardiomyopathy (ARVD/C). Resultant activation delay is pivotal for reentry and thereby ventricular tachycardia (VT). Current task force cr

  18. Ehlers-Danlos syndrome with monostotic fibrous dysplasia

    Directory of Open Access Journals (Sweden)

    Rao A

    1979-01-01

    Full Text Available An unusual case of Ehlers-Danlos syndrome with monostotic fibrous dysplasia of the humorus is presented. The other orthopae-dic manifestations, its complications and associated features are re-viewed and summarised.

  19. Glenoid Dysplasia in the Recurrent Shoulder Dislocation: A Case Report

    Directory of Open Access Journals (Sweden)

    Hamza Sucuoglu

    2016-02-01

    Full Text Available Glenoid dysplasia, which is often ignored, is a rare developmental anomaly. In most cases the patients remain asymptomatic. Although glenoid dysplasia has been diagnosed by incidentally on chest radiograph, also it has been described because of the developing instability of shoulder joint. Our young male patient who has recurrent dislocation of the shoulder-joint 4-5 times a year for last 5 years, dislocation has been reduced in the emergency department and he has been discharged from hospital with shoulder strap and rest. Finally when he admitted to our outpatient clinic with recurrent shoulder dislocation, the diagnosis of glenoid dysplasia is revealed by X-ray examination. We present the diagnose of glenoid dysplasia with clinical and radiological findings which should be kept in mind in patients with recurrent dislocations of shoulder as in our case.

  20. Incidence of Canine Hip Dysplasia : A Survey of 272 Cases

    Directory of Open Access Journals (Sweden)

    G. D. Rao

    2010-10-01

    Full Text Available A total of 272 cases of hip dysplasia were reviewed. A review of clinical cases presented with the clinical signs of hip dysplasia were referred to Radiology Unit of Madras Veterinary College, from May 2007-April 2009 was taken for this study.The incidence was highest in young animals of age group over three months to one year (52.94 percent. The breed-wise incidence was more common in Labrador Retriever (36.76 percent. Male dogs were found to be more affected (59.55 percent than female dogs. Bilateral hip dysplasia was found to be more (88.60 percent than unilateral. Among the unilateral hip dysplasia, left side was found to be more (54.83 percent than right. [Vet. World 2010; 3(5.000: 219-220

  1. Effectiveness of ultrasound screening for developmental dysplasia of the hip

    NARCIS (Netherlands)

    Roovers, EA; Boere-Boonekamp, MM; Zielhuis, GA; Kerkhoff, TH

    2005-01-01

    Objective: To determine the effectiveness of ultrasound screening for developmental dysplasia of the hip (DDH) after the neonatal period. Design: Prospective cohort study. Setting: Child health care centres. Participants: Infants attending the child health care centres. Interventions: The interventi

  2. Differential Genetic Regulation of Canine Hip Dysplasia and Osteoarthritis

    OpenAIRE

    Zhengkui Zhou; Xihui Sheng; Zhiwu Zhang; Keyan Zhao; Lan Zhu; Gang Guo; Steve G Friedenberg; Hunter, Linda S.; Vandenberg-Foels, Wendy S.; Hornbuckle, William E.; Ursula Krotscheck; Elizabeth Corey; Moise, Nancy S.; Dykes, Nathan L.; Junya Li

    2010-01-01

    BACKGROUND: Canine hip dysplasia (HD) is a common polygenic trait characterized by hip malformation that results in osteoarthritis (OA). The condition in dogs is very similar to developmental dysplasia of the human hip which also leads to OA. METHODOLOGY/PRINCIPAL FINDINGS: A total of 721 dogs, including both an association and linkage population, were genotyped. The association population included 8 pure breeds (Labrador retriever, Greyhounds, German Shepherd, Newfoundland, Golden retriever,...

  3. Conventional Complete Denture in Patients with Ectodermal Dysplasia

    OpenAIRE

    Larissa Soares Reis Vilanova; Alfonso Sánchez-Ayala; Giselle Rodrigues Ribeiro; Camila Heitor Campos; Arcelino Farias-Neto

    2015-01-01

    Ectodermal dysplasia is described as heritable conditions that involve anomalies of structures derived from the ectoderm, including hypodontia. In the cases of edentulous young patients, who did not finish their craniofacial growth, treatment with conventional complete denture is a suitable alternative. The aim of this study was to report a case of mandibular edentulism treated with conventional complete denture in a thirteen-year-old patient diagnosed with hidrotic ectodermal dysplasia. Typi...

  4. Osteofibrous dysplasia of clavicle clinically mimicking chronic osteomyelitis

    Directory of Open Access Journals (Sweden)

    Nirmal Raj Gopinathan

    2016-01-01

    Full Text Available Osteofibrous dysplasia or ossifying fibroma is an uncommon benign fibro-osseous lesion of childhood, commonly described in the maxilla and the mandible. Among long bones, it usually presents in the tibia as a painless swelling or anterior bowing. Ossifying fibroma of clavicle has never been reported in English literature, to the best of our knowledge. Here, we would like to present an unusual case of osteofibrous dysplasia of clavicle clinically mimicking chronic osteomyelitis.

  5. Dysspondyloenchondromatosis: Another COL2A1-Related Skeletal Dysplasia?

    OpenAIRE

    Nakane, T.; Tando, T.; Aoyagi, K.; Hatakeyama, K.; Nishimura, G; Coucke, I.P.J.; Mortier, G; Sugita, K.

    2011-01-01

    Dysspondyloenchondromatosis (DSC) is a rare skeletal dysplasia that has currently been classified into the group of spondylometaphyseal dysplasias. To date, only 12 affected individuals have been reported. All cases are sporadic, and the etiology remains unknown. Distinctive features of DSC are anisospondyly and enchondroma-like lesions in the metaphyseal and diaphyseal portions of the long tubular bones. Affected individuals usually develop kyphoscoliosis and asymmetric limb shortening at an...

  6. Ectrodactyly, ectodermal dysplasia, cleft lip, and palate (EEC syndrome

    Directory of Open Access Journals (Sweden)

    Mohita Marwaha

    2012-01-01

    Full Text Available The ectodermal dysplasias (EDs are a large and complex group of diseases. More than 170 different clinical conditions have been recognized and defined as ectodermal dysplasias. Commonly involved ectodermal-derived structures are hair, teeth, nails, and sweat glands. In some conditions, it may be associated with mental retardation. We report a case of 10-year-old male child with ectrodactyly, syndactyly, ED, cleft lip/palate, hearing loss, and mental retardation.

  7. MRI findings of dysplasia epiphysealis hemimelica: a case report

    Energy Technology Data Exchange (ETDEWEB)

    Seo, Young Lan; Nam, Eun Sook [Hallym University College of Medicine, Seoul (Korea, Republic of)

    2002-09-01

    Dysplasia epiphysealis hemimelica, also known as Trevor's disease, is a rare disorder characterized by osteochondral overgrowth of one or more epiphyses and usually affecting the lower limbs. It typically presents in childhood, with painless swelling or deformity around the involved joint. We report a case of recurrent dysplasia epiphysealia which presented as a large popliteal mass four years after excision of the initial lesion.

  8. Juvenile dysmenorrhea associated with hypomagnesemia and connective tissue dysplasia

    OpenAIRE

    Oltinoy Yakubova

    2012-01-01

    The paper discusses the relationship of juvenile dysmenorrhea with connective tissue dysplasia, which biochemical marker is hydroxyproline, and magnesium level in blood serum depending on hormonal profile during the second phase of the menstrual cycle. Study showed that in young woman with dysmenorrhea and phenomena of connective tissue dysplasia hydroxyproline level in urine was increased; it was associated with increased degradation of collagen, decreased level of magnesium and hormonal cha...

  9. Glenoid Dysplasia in the Recurrent Shoulder Dislocation: A Case Report

    OpenAIRE

    Hamza Sucuoglu

    2016-01-01

    Glenoid dysplasia, which is often ignored, is a rare developmental anomaly. In most cases the patients remain asymptomatic. Although glenoid dysplasia has been diagnosed by incidentally on chest radiograph, also it has been described because of the developing instability of shoulder joint. Our young male patient who has recurrent dislocation of the shoulder-joint 4-5 times a year for last 5 years, dislocation has been reduced in the emergency department and he has been discharged from hospita...

  10. The pathogenesis and diagnosis of canine hip dysplasia: a review.

    OpenAIRE

    Fries, C L; Remedios, A M

    1995-01-01

    Hip dysplasia is a common developmental problem affecting the canine population. Despite extensive research into the condition, many questions remain unanswered and numerous misconceptions are present among the general public. The purpose of this paper is to review the current knowledge on the development of hip dysplasia, factors modifying its development, and current diagnostic techniques. A computerized literature search was conducted for the period of January 1983 to April 1985 using the ...

  11. The role of the acetabular labrum in hip dysplasia

    OpenAIRE

    Hartig-Andreasen, Charlotte; Søballe, Kjeld; Troelsen, Anders

    2013-01-01

    A periacetabular osteotomy (PAO) is the preferred joint preserving treatment for young adults with symptomatic hip dysplasia and no osteoarthritis. In symptomatic dysplasia of the hip, there is labral pathology in up to 90% of cases. However, no consensus exists as to whether a labral tear should be treated before the periacetabular osteotomy (PAO), treated simultaneously with the PAO, or left alone and only treated if symptoms persist after the PAO. This review is an update of aspects of lab...

  12. Ectrodactyly, ectodermal dysplasia, cleft lip, and palate (EEC syndrome)

    OpenAIRE

    Mohita Marwaha; Kanwar Deep Singh Nanda

    2012-01-01

    The ectodermal dysplasias (EDs) are a large and complex group of diseases. More than 170 different clinical conditions have been recognized and defined as ectodermal dysplasias. Commonly involved ectodermal-derived structures are hair, teeth, nails, and sweat glands. In some conditions, it may be associated with mental retardation. We report a case of 10-year-old male child with ectrodactyly, syndactyly, ED, cleft lip/palate, hearing loss, and mental retardation.

  13. Cystic fibrosis transmembrane conductance regulator (CFTR) gene mutations in allergic bronchopulmonary aspergillosis

    Energy Technology Data Exchange (ETDEWEB)

    Miller, P.W.; Hamosh, A.; Macek, M. Jr. [John Hopkins Univ. School of Medicine, Baltimore, MD (United States)] [and others

    1996-07-01

    The etiology of allergic bronchopulmonary aspergillosis (ABPA) is not well understood. A clinical phenotype resembling the pulmonary disease seen in cystic fibrosis (CF) patients can occur in some individuals with ABPA. Reports of familial occurrence of ABPA and increased incidence in CF patients suggest a possible genetic basis for the disease. To test this possibility, the entire coding region of the cystic fibrosis transmembrane regulator (CFTR) gene was analyzed in 11 individuals who met strict criteria for the diagnosis of ABPA and had normal sweat electrolytes ({le}40 mmol/liter). One patient carried two CF mutations ({Delta}F508/R347H), and five were found to carry one CF mutation (four {Delta}F508; one R117H). The frequency of the {Delta}F508 mutation in patients with ABPA was significantly higher than in 53 Caucasian patients with chronic bronchitis (P < .0003) and the general population (P < .003). These results suggest that CFTR plays an etiologic role in a subset of ABPA patients. 54 refs., 2 tabs.

  14. Is There a Relationship between Ovarian Epithelial Dysplasia and Infertility?

    Directory of Open Access Journals (Sweden)

    Gautier Chene

    2012-01-01

    Full Text Available Aim. Ovarian epithelial dysplasia was initially described in material from prophylactic oophorectomies performed in patients at genetic risk of ovarian cancer. Similar histopathological abnormalities have been revealed after ovulation stimulation. Since infertility is also a risk factor for ovarian neoplasia, the aim of this study was to study the relationship between infertility and ovarian dysplasia. Methods. We blindly reviewed 127 histopathological slides of adnexectomies or ovarian cystectomies according to three groups—an exposed group to ovulation induction (n = 30, an infertile group without stimulation (n = 35, and a spontaneously fertile control group (n = 62—in order to design an eleven histopathological criteria scoring system. Results. The ovarian dysplasia score was significantly higher in exposed group whereas dysplasia score was low in infertile and control groups (resp., 8.21 in exposed group, 3.69 for infertile patients, and 3.62 for the controls. In the subgroup with refractory infertility there was a trend towards a more severe dysplasia score (8.53 in ovulation induction group and 5.1 in infertile group. Conclusion. These results raise questions as to the responsibility of drugs used to induce ovulation and/or infertility itself in the genesis of ovarian epithelial dysplasia.

  15. The usefulness of nucleomedical procedures in diagnosis of fibrous dysplasia

    Energy Technology Data Exchange (ETDEWEB)

    Otsuka, Nobuaki; Fukunaga, Masao; Ono, Shimato (Kawasaki Medical School, Kurashiki, Okayama (Japan)) (and others)

    1989-09-01

    Bone scintigraphy with {sup 99m}Tc-phosphorous compounds and {sup 67}Ga scintigraphy were performed in 8 patients (monostotic 3 cases, polyostotic 5 cases) with fibrous dysplasia. The tendency toward abnormal accumulation of radioactivity on bone scintigraphy was high in the tibia, maxilla, mandibule and ribs. The characteristics of the scintigraphic image at the sites of bone lesion in fibrous dysplasia were judged to be marked (++), moderate (+) or poor or minimal (-), according to the degree of accumulation of radioactivity. Eleven sites of fibrous dysplasia showed marked accumulation and 5 sites showed moderate accumulation. Poor or minimal accumulation was not observed in any fibrous dysplasia lesions. Sclerotic changes on bone roentgenograms appeared as marked accumulation of radionuclides on bone scintigraphy in all cases. Cystic changes on roentgenograms showed a tendency toward moderate accumulation on scintigrams. {sup 67}Ga scans were also all positive for 2 experimental cases (3 sites) of bone lesions of fibrous dysplasia. Thus, bone and {sup 67}Ga scintigraphies appear to be useful and essential in evaluating the pathophysiology of fibrous dysplasia. (author).

  16. Assessment of hip dysplasia and osteoarthritis: Variability of different methods

    Energy Technology Data Exchange (ETDEWEB)

    Troelsen, Anders; Elmengaard, Brian; Soeballe, Kjeld (Orthopedic Research Unit, Univ. Hospital of Aarhus, Aarhus (Denmark)), e-mail: a_troelsen@hotmail.com; Roemer, Lone (Dept. of Radiology, Univ. Hospital of Aarhus, Aarhus (Denmark)); Kring, Soeren (Dept. of Orthopedic Surgery, Aabenraa Hospital, Aabenraa (Denmark))

    2010-03-15

    Background: Reliable assessment of hip dysplasia and osteoarthritis is crucial in young adults who may benefit from joint-preserving surgery. Purpose: To investigate the variability of different methods for diagnostic assessment of hip dysplasia and osteoarthritis. Material and Methods: By each of four observers, two assessments were done by vision and two by angle construction. For both methods, the intra- and interobserver variability of center-edge and acetabular index angle assessment were analyzed. The observers' ability to diagnose hip dysplasia and osteoarthritis were assessed. All measures were compared to those made on computed tomography scan. Results: Intra- and interobserver variability of angle assessment was less when angles were drawn compared with assessment by vision, and the observers' ability to diagnose hip dysplasia improved when angles were drawn. Assessment of osteoarthritis in general showed poor agreement with findings on computed tomography scan. Conclusion: We recommend that angles always should be drawn for assessment of hip dysplasia on pelvic radiographs. Given the inherent variability of diagnostic assessment of hip dysplasia, a computed tomography scan could be considered in patients with relevant hip symptoms and a center-edge angle between 20 deg and 30 deg. Osteoarthritis should be assessed by measuring the joint space width or by classifying the Toennis grade as either 0-1 or 2-3

  17. Gene p63: In ectrodactyly-ectodermal dysplasia clefting, ankyloblepharon-ectodermal dysplasia, Rapp-Hodgkin syndrome

    OpenAIRE

    van Straten, Cornelia; Butow, Kurt-W

    2013-01-01

    Introduction: An analysis was made of three different syndromes associated with p63 gene mutations, known as ectrodactyly–ectodermal dysplasia-clefting syndrome (EEC), ankyloblepharon–ectodermal dysplasia clefting syndrome (AEC or Hay–Wells) and Rapp–Hodgkin syndrome (RHS). The postoperative complications associated with their cleft reconstructions were also evaluated. Materials and Methods: Extensive demographic information, in particular of the clinical appearances, associated malformations...

  18. Global burden of allergic bronchopulmonary aspergillosis with asthma and its complication chronic pulmonary aspergillosis in adults.

    Science.gov (United States)

    Denning, David W; Pleuvry, Alex; Cole, Donald C

    2013-05-01

    Allergic bronchopulmonary aspergillosis (ABPA) complicates asthma and may lead to chronic pulmonary aspergillosis (CPA) yet global burdens of each have never been estimated. Antifungal therapy has a place in the management of ABPA and is the cornerstone of treatment in CPA, reducing morbidity and probably mortality. We used the country-specific prevalence of asthma from the Global Initiative for Asthma (GINA) report applied to population estimates to calculate adult asthma cases. From five referral cohorts (China, Ireland, New Zealand, Saudi Arabia and South Africa), we estimated the prevalence of ABPA in adults with asthma at 2.5% (range 0.72-3.5%) (scoping review). From ABPA case series, pulmonary cavitation occurred in 10% (range 7-20%), allowing an estimate of CPA prevalence worldwide using a deterministic scenario-based model. Of 193 million adults with active asthma worldwide, we estimate that 4,837,000 patients (range 1,354,000-6,772,000) develop ABPA. By WHO region, the ABPA burden estimates are: Europe, 1,062,000; Americas, 1,461,000; Eastern Mediterranean, 351,000; Africa, 389,900; Western Pacific, 823,200; South East Asia, 720,400. We calculate a global case burden of CPA complicating ABPA of 411,100 (range 206,300-589,400) at a 10% rate with a 15% annual attrition. The global burden of ABPA potentially exceeds 4.8 million people and of CPA complicating ABPA ˜ 400,000, which is more common than previously appreciated. Both conditions respond to antifungal therapy justifying improved case detection. Prospective population and clinical cohort studies are warranted to more precisely ascertain the frequency of ABPA and CPA in different locations and ethnic groups and validate the model inputs.

  19. Arrhythmogenic Right Ventricular Dysplasia in Neuromuscular Disorders

    Science.gov (United States)

    Finsterer, Josef; Stöllberger, Claudia

    2016-01-01

    OBJECTIVES Arrhythmogenic right ventricular dysplasia (ARVD) is a rare, genetic disorder predominantly affecting the right ventricle. There is increasing evidence that in some cases, ARVD is due to mutations in genes, which have also been implicated in primary myopathies. This review gives an overview about myopathy-associated ARVD and how these patients can be managed. METHODS A literature review was done using appropriate search terms. RESULTS The myopathy, which is most frequently associated with ARVD, is the myofibrillar myopathy due to desmin mutations. Only in a single patient, ARVD was described in myotonic dystrophy type 1. However, there are a number of genes causing either myopathy or ARVD. These genes include lamin A/C, ZASP/cypher, transmembrane protein-43, titin, and the ryanodine receptor-2 gene. Diagnosis and treatment are identical for myopathy-associated ARVD and nonmyopathy-associated ARVD. CONCLUSIONS Patients with primary myopathy due to mutations in the desmin, dystrophia myotonica protein kinase, lamin A/C, ZASP/cypher, transmembrane protein-43, titin, or the ryanodine receptor-2 gene should be screened for ARVD. Patients carrying a pathogenic variant in any of these genes should undergo annual cardiological investigations for cardiac function and arrhythmias. PMID:27790050

  20. Dentin Dysplasia in Notum Knockout Mice.

    Science.gov (United States)

    Vogel, P; Read, R W; Hansen, G M; Powell, D R; Kantaputra, P N; Zambrowicz, B; Brommage, R

    2016-07-01

    Secreted WNT proteins control cell differentiation and proliferation in many tissues, and NOTUM is a secreted enzyme that modulates WNT morphogens by removing a palmitoleoylate moiety that is essential for their activity. To better understand the role this enzyme in development, the authors produced NOTUM-deficient mice by targeted insertional disruption of the Notum gene. The authors discovered a critical role for NOTUM in dentin morphogenesis suggesting that increased WNT activity can disrupt odontoblast differentiation and orientation in both incisor and molar teeth. Although molars in Notum(-/-) mice had normal-shaped crowns and normal mantle dentin, the defective crown dentin resulted in enamel prone to fracture during mastication and made teeth more susceptible to endodontal inflammation and necrosis. The dentin dysplasia and short roots contributed to tooth hypermobility and to the spread of periodontal inflammation, which often progressed to periapical abscess formation. The additional incidental finding of renal agenesis in some Notum (-/-) mice indicated that NOTUM also has a role in kidney development, with undiagnosed bilateral renal agenesis most likely responsible for the observed decreased perinatal viability of Notum(-/-) mice. The findings support a significant role for NOTUM in modulating WNT signaling pathways that have pleiotropic effects on tooth and kidney development. PMID:26926082

  1. Cleidocranial dysplasia: report of six clinical cases.

    Science.gov (United States)

    Martins, Rosemary Baptista; de Souza, Ricardo Salgado; Giovani, Elcio Magdalena

    2014-01-01

    Cleidocranial dysplasia (CCD) is an autosomal-dominant disorder that occurs due to mutations in the Cbfa 1 gene, also called Runx 2, located on the short arm of chromosome 6, affecting osteoblast skeletal-specific bones that have intramembranous ossification. This condition is characterized by hypoplastic clavicles, short stature, and great clinical significance in the stomatognathic complex, with involvement of facial bones, changes in the eruption patterns, including multiple supernumerary and retained teeth. This study reports six subjects of the same family with CCD identified in the Dentistry Clinic of Oral Diagnosis Department, Universidade Paulista, Campus Sorocaba, Sao Paulo State, Brazil. All cases had clinical and radiographic aspects of this important condition, such as short stature, hypertelorism, severe mobility of the shoulders, and supernumerary and retained teeth. Due to the rare incidence and phenotypic manifestations, CCD can be easily misdiagnosed. The oral commitments are one of the main (functional and aesthetic) causes of complaints in these subjects; and a dentist must establish the diagnosis as early as possible, followed by behaviors and practices that can minimize harmful manifestations of the syndrome and improve health associated with oral and multidisciplinary integration offering improvements in quality of life of these subjects. PMID:24712510

  2. Assessment of adult hip dysplasia and the outcome of surgical treatment

    DEFF Research Database (Denmark)

    Troelsen, Anders

    2012-01-01

    Hip dysplasia and hip joint deformities in general are recognized as possible precursors of osteoarthritic development. Early and correct identification of hip dysplasia is important in order to offer timely joint preserving treatment. In the contemporary literature, several controversies exist, ...

  3. Epilepsy as a Rare Neurologic Manifestation of Oculodentodigitalis Dysplasia

    Directory of Open Access Journals (Sweden)

    Mohammad BARZEGAR

    2012-09-01

    Full Text Available How to Cite this Article: Barzegar M, Sayadnasiri M, Tabrizi A. Epilepsy as a Rare Neurologic Manifestation of Oculodentodigitalis Dysplasia. Iran J Child Neurol 2012; 6(3: 39-43.Oculodentodigitalis dysplasia (ODDD is an extremely rare inherited disorderinvolving the development of the face, eyes, teeth and limbs. In addition,some patients develop neurological problems mostly a spastic paraparesisassociated with white matter abnormalities on magnetic resonance imaging.This report describes a patient with epilepsy, a rare neurologic manifestationof this syndrome.ReferencesJudisch GF, Martin-Casals A, Hanson JW, Olin WH.Oculodentodigital dysplasia. Four new reports and aliterature review. Arch Ophthalmol 1979 May;97(5:878-84.Paznekas WA, Boyadjiev SA, Shapiro RE, DanielsO, Wollnik B, Keegan CE, et al. Connexin 43(GJA1 mutations cause the pleiotropic phenotype of oculodentodigital dysplasia. Am J Hum Genet 2003 Feb;72(2:408-18.Parashari UC, Khanduri S, Bhadury S, Qayyum FA.Radiographic diagnosis of a rare case of oculodentodigital dysplasia. SA J Radiology 2011:134-6.van Es RJ, Wittebol-Post D, Beemer FA. Oculodentodigital dysplasia with mandibular retrognathism and absenceof syndactyly:a case report with a novel mutation in the connexin 43 gene. Int J Oral Maxillofac Surg 2007 Sep;36(9:858-60.Aminabadi NA, Ganji AT, Vafaei A, Pourkazemi M,Oskouei SG. Oculodentodigital dysplasia: disease spectrum in an eight-year-old boy, his parents and asibling. J Clin Pediatr Dent 2009 Summer;33(4:337-41.Loddenkemper T, Grote K, Evers S, Oelerich M, StogbauerF. Neurological manifestations of the oculodentodigital dysplasia syndrome. J Neurol 2002 May;249(5:584-95.Opjordsmoen S, Nyberg-Hansen R. Hereditary spasticparaplegia with neurogenic bladder disturbances and syndactylia. Acta Neurol Scand 1980 Jan;61(1:35-41.Farmer TW, Wingfield MS, Lynch SA, Vogel FS, HuletteC, Katchinoff B, et al. Ataxia, chorea, seizures, and dementia. Pathologic features of a newly

  4. Computed tomographic features of fibrous dysplasia of maxillofacial region

    Energy Technology Data Exchange (ETDEWEB)

    Sontakke, Subodh Arun; Karjodka, Freny R [Nair Hospital Dental College, Mumba (India); Umarji, Hemant R [Government Dental College and Hospital, Mumbai (India)

    2011-03-15

    This study was to find the computed tomographic features of fibrous dysplasia of the maxillofacial region. All eight cases included in the study reported either to Government Dental College and Hospital or Nair Hospital Dental College, Mumbai between 2003 and 2009. The patients were prescribed computed tomogram in addition to conventional radiographs of maxillofacial region which were studied for characteristic features of fibrous dysplasia. The diagnosis of fibrous dysplasia was confirmed by histopathological report. All cases showed the ill-defined margins of lesions except in the region where the lesions were extending to cortex of the involved bone. Internal structure of all cases showed ground glass appearance. Four cases of maxillary lesion showed the displacement of maxillary sinus maintaining the shape of maxillary sinus. Two cases showed complete obliteration of maxillary sinus. Displacement of inferior alveolar canal did not follow any typical pattern in any of the cases but was displaced in different directions. The craniofacial type of fibrous dysplasia is as common as fibrous dysplasia of jaw. The margins, extent, internal structure and effect on surrounding structure are well detected on computed tomographic images.

  5. Ultrasonographic findings of renal dysplasia in cocker spaniels: eight cases.

    Science.gov (United States)

    Felkai, C; Vörös, K; Vrabély, T; Vetési, F; Karsai, F; Papp, L

    1997-01-01

    A retrospective study of eight young Cocker Spaniels aged 9-24 months was performed to describe the ultrasonographic findings of histologically confirmed renal dysplasia. Ultrasonography revealed kidneys of significantly (p imaging plane. In the other type of the ultrasound appearance, overall increased echogenicity with poor corticomedullary demarcation was noticed, and the kidneys could hardly be separated from their surroundings. These features were best recognised in the sagittal (coronal) imaging plane. In one dog with secondary hypercalcaemia, a hyperechoic corticomedullary area was also seen. Post-mortem histological diagnosis revealed renal dysplasia and secondary fibrosis. Based on ultrasound findings alone, renal dysplasia (renal familial disease) can be suspected when small kidneys with thin echogenic cortex are present in young dogs. An ultrasound image, similar to that of fibrotic kidneys (increased overall echogenicity and reduced corticomedullary definition) cannot be differentiated from chronic inflammatory disease and from end-stage kidneys. Therefore, ultrasound-guided biopsy or post-mortem histology is necessary for the definitive diagnosis of renal dysplasia. This is the first study reporting on the ultrasound appearance of renal dysplasia in Cocker Spaniel dogs. PMID:9557317

  6. Recurring fibrous dysplasia of anthro maxillary with cranial base invasion

    Directory of Open Access Journals (Sweden)

    Sousa, Kátia Maria Marabuco de

    2009-09-01

    Full Text Available Introduction: Fibrous dysplasia is an osseous lesion with an unknown etiology. It is characterized by the osseous maturation insufficiency. It may affect any bone, but the affection of craniofacial bones is the most critical for otorhinolaryngology. Maxilla is the most affected facial bone and the orbitary invasion is an uncommon event. The symptoms are unspecific and for its low suspicion and uncommonness, the diagnosis is generally late. The monostotic form presents a slow growth and asymptomatic course and needs to be followed up. The polyostotic type has a progressive behavior and is associated to recurrence and complications. Objective: To present two cases of patients with fibrous dysplasia diagnosis and describe the clinical presentation, radiological findings and the treatment of this pathology. Cases Report: Two cases of fibrous dysplasia are reported, which initially presented unspecific symptomatology, but with characteristic radiologic signs. They were submitted to surgical treatment for resection of the lesions and evolved with frequent recurrences with extensive affection of the facial sinuses, one patient had cranial base invasion and frontal craniotomy was needed for tumoral excision. Final Comments: Fibrous dysplasia is an uncommon osteopathy. The tomography is the choice method for characterization of the tumoral expansion, and helps in the surgical planning. The surgical strategy is indicated for symptomatic lesions, functions alterations or anatomic disorders. This article describes two uncommon manifestations of recurrent fibrous dysplasia with an extensive affection of anthro maxillary, ethmoidal and sphenoid sinuses, in addition to orbitary and cranial base invasion.

  7. Frequency of Developmental Hip Dysplasia in a Training Hospital

    Directory of Open Access Journals (Sweden)

    Emrah Can

    2010-09-01

    Full Text Available Aim: We aimed to determine the frequency of cases with developmental hip dysplasia during the neonatal period and the associated risk factors. Methods: Hip ultrasound images of 258 full-term newborns aged one month were evaluated prospectively in conjunction with physical examination for developmental hip dysplasia in GATA well baby outpatient clinic. Results: The incidence of developmental hip dysplasia was 0.3% in one-month-old, healthy, full-term babies included in the study. 44% of them were male and 56% were female. The mean birth weight was 3311.8±511.4 g. 48% of all births were spontaneous vaginal deliveries and 52% cesarean deliveries. A history of oligohydramniosis was present in 8% of cases, 1% had breech presentation, 7% had a family history of developmental dysplasia and 7% had been swaddled. Additional congenital anomaly and torticollis were not detected at the physical examination of the babies. The risk factors were determined to be twin birth and female gender in the only baby who had developmental hip dysplasia (Type 2a. Conclusion: Developmental hip displasia is a significant public health concern in developing countries. Physical examination performed in conjunction with hip ultrasonography routinely in the neonatal period may contribute to the early diagnosis and treatment. (The Medical Bulletin of Haseki 2010; 48: 99-102

  8. Craniofacial fibrous dysplasia - A review of current management techniques

    Directory of Open Access Journals (Sweden)

    Yadavalli Guruprasad

    2012-01-01

    Full Text Available Fibrous dysplasia is a pathologic condition of bone of unknown etiology with no apparent familial, hereditary or congenital basis. Lichtenstein first coined the term in 1938 and in 1942 he and Jaffe separated it from other fibro-osseous lesions. It is a bone tumor that, although benign, has the potential to cause significant cosmetic and functional disturbance, particularly in the craniofacial skeleton. Its management poses significant challenges to the surgeon. Craniofacial fibrous dysplasia is 1 of 3 types of fibrous dysplasia that can affect the bones of the craniofacial complex, including the mandible and maxilla. Fibrous dysplasia is a skeletal developmental disorder of the bone-forming mesenchyme that manifests as a defect in osteoblastic differentiation and maturation. It is a lesion of unknown etiology, uncertain pathogenesis, and diverse histopathology. Fibrous dysplasia represents about 2, 5% of all bone tumors and over 7% of all benign tumours. Over the years, we have gained a better understanding of its etiology, clinical behavior, and both surgical and non-surgical treatments.

  9. Polyostotic Fibrous Dysplasia of Cranio-Maxillofacial Area

    International Nuclear Information System (INIS)

    Fibrous dysplasia is believed to be a hamartomatous developmental lesion of unknown origin. This disease is divided into monostotic and polyostotic fibrous dysplasia. Polyostotic type can be divided into craniofacial type, Lichtenstein-Jaffe type, and McCune-Albright syndrome. In this case, a 31-year-old female presented spontaneous loss of right mandibular teeth before 5 years and has shown continuous expansion of right mandibular alveolus. Through the radiographic view, the coarse pattern of the mixed radiopaque-lucent lesion was seen on the right mandibular body, and there was diffuse pattern of the mixed radiopaque-lucent lesion with ill-defined margin in the left mandibular body. In the right calvarium, the lesion had cotton-wool appearance. Partial excision for contouring, multiple extraction, and alveoloplasty were accomplished under general anesthesia for supportive treatment. Finally we could conclude this case was polyostotic fibrous dysplasia of cranio-maxillofacial area based on the clinical, radiologic finding, and histopathologic examination.

  10. Radiological analysis of polyostotic fibrous dysplasia in skeletal system

    Energy Technology Data Exchange (ETDEWEB)

    Shin, Ma Rie; Kim, Jin Sik; Kim, Han Suk [National Medical Center, Seoul (Korea, Republic of); Park, Soo Soung [Chung Ang University College of Medicine, Seoul (Korea, Republic of)

    1984-12-15

    Over a period of recent 3 years, the 5 cases of polyostotic fibrous dysplasia were proven histologically at National Medical Center, and they were evaluated and analyzed radiologically and clinically. The results were as follows: 1. The age of 5 patients ranged from 12 to 21. 2. In general, clinical symptoms of these patients were pain of affected sites and swelling , fracture, walking disturbance of lower extremities. 3. The order of frequent site of polyostotic fibrous dysplasia was skull (4 cases), femur (3 cases), maxilla (2 case), humerus, tibia, rib, radius, metacarpal bone and phalanx. 4. The characteristic radiological findings of polyostotic fibrous dysplasia were multicystic lesions with ground glass appearance, osteosclerosis, cortical thinning and pathologic fracture and deformity of long bones. Particularly, in the extremities, multicystic radiolucencies, groud glass appearance, shepherd's crook and coxa vara deformities were noticed, and in the skull and maxilla, sclerotic changes were principally demonstrated.

  11. REHABILITASI PASIEN GIGI TIRUAN PENUH DENGAN EKTODERMAL DYSPLASIA (LAPORAN KASUS

    Directory of Open Access Journals (Sweden)

    Susi R. Puspita Dewi

    2015-07-01

    Full Text Available Ectodermal dysplasia is a rare congenital disease that affects several ectodermal structures. This disease is usually transmitted as an x-linked recessive trait in which the gene is carried by female and manifested in male. The orofacial characteristics of ectodermal dysplasia include anodontia or hypodontia, congenital teeth, underdevelopment of alveolar ridges and it is not uncommon for the face of an affected child to take on the appearance characteristic of old age, a prominent forehead, protuberant lips, a depressed nasal bridge, hypotricosis, and hypohidrosis. The treatment to manage orogacial disfigurement may afford the patient some measure of confidence, esthetics, function and speech. This case report describes the diagnosis and treatment of ectodermal dysplasia in an 18 year patient. The treatment included removable complete denture.

  12. Polyostotic Fibrous Dysplasia of Cranio-Maxillofacial Area

    Energy Technology Data Exchange (ETDEWEB)

    Han, Jin Woo; Kwon, Hyuk Rok; Lee, Jin Ho; Park, In Woo [Dept. of Oral and Maxillofacial Radiology, College of Dentistry, Kangnung National University, Kangnung (Korea, Republic of)

    2000-06-15

    Fibrous dysplasia is believed to be a hamartomatous developmental lesion of unknown origin. This disease is divided into monostotic and polyostotic fibrous dysplasia. Polyostotic type can be divided into craniofacial type, Lichtenstein-Jaffe type, and McCune-Albright syndrome. In this case, a 31-year-old female presented spontaneous loss of right mandibular teeth before 5 years and has shown continuous expansion of right mandibular alveolus. Through the radiographic view, the coarse pattern of the mixed radiopaque-lucent lesion was seen on the right mandibular body, and there was diffuse pattern of the mixed radiopaque-lucent lesion with ill-defined margin in the left mandibular body. In the right calvarium, the lesion had cotton-wool appearance. Partial excision for contouring, multiple extraction, and alveoloplasty were accomplished under general anesthesia for supportive treatment. Finally we could conclude this case was polyostotic fibrous dysplasia of cranio-maxillofacial area based on the clinical, radiologic finding, and histopathologic examination.

  13. Evaluation of reflux nephropathy, pyelonephritis and renal dysplasia

    International Nuclear Information System (INIS)

    MR urography has the potential to significantly improve our understanding of the relationship between reflux nephropathy, pyelonephritis, vesicoureteric reflux and renal dysplasia. MR urography utilizes multiple parameters to assess both renal anatomy and function and provides a more complete characterization of acquired and congenital disease. Pyelonephritis and renal scarring can be distinguished by assessing the parenchymal contours and signal intensity. Characteristic imaging features of renal dysplasia include small size, subcortical cysts, disorganized architecture, decreased and patchy contrast enhancement as well as a dysmorphic pelvicalyceal system. Because of its ability to subdivide and categorize this heterogeneous group of disorders, it seems inevitable that MR urography will replace DMSA renal scintigraphy as the gold standard for assessment of pyelonephritis and renal scarring. MR urography will contribute to our understanding of renal dysplasia and its relationship to reflux nephropathy. (orig.)

  14. New directions in clinical imaging of cortical dysplasias.

    Science.gov (United States)

    Madan, Neel; Grant, P Ellen

    2009-10-01

    Neuroimaging is essential in the work-up of patients with intractable epilepsy. In pediatric patients with medically refractory epilepsy, cortical dysplasias account for a large percentage of the epileptogenic substrate. Unfortunately, these are also the most subtle lesions to identify. For this reason, there has been ongoing interest in utilizing new advanced magnetic resonance imaging (MRI) techniques to improve the ability to identify, diagnose, characterize, and delineate cortical dysplasias. Technologic gains such as multichannel coils (32 phased array and beyond) and higher field strengths (3T, 7T, and greater) coupled with newer imaging sequences such as arterial spin labeling (ASL), susceptibility weighted imaging (SWI) and diffusion tensor/spectrum imaging (DTI/DSI) are likely to increase yield. Improved MRI techniques coupled with a multimodality approach including magnetoencephalography (MEG), positron emission tomography (PET), and other techniques will increase sensitivity and specificity for identifying cortical dysplasias. PMID:19761449

  15. Bronchopulmonary arterial anastomosis at the precapillary level in human lung. Visualization using CT angiography compared with microangiography of autopsied lung

    International Nuclear Information System (INIS)

    To investigate the interrelationships between the bronchial and pulmonary circulations including the existence of precapillary bronchopulmonary arterial anastomoses, CT of bronchial arteriography (BAG-CT) was performed in 10 patients and BAG-CT during a pulmonary artery block test (PA-block) in 5 patients with lung cancer. Bronchial and pulmonary circulations were evaluated in 5 autopsied normal lungs by injecting silicone rubber with different colors into the bronchial and pulmonary arteries. BAG-CT correlated well with the findings at silicone rubber injection into lung autopsy samples. BAG-CT demonstrated inflow of contrast medium into the pulmonary artery during PA-block in all cases, while no inflow was observed before and following reversal of PA-block. Mixed silicone rubber was observed in the lobar to subsubsegmental bronchial arteries in all cases and in the subsubsegmental pulmonary artery in one case. Precapillary bronchopulmonary arterial anastomoses may exist at the level of the lobar bronchi to the periphery. If either the pulmonary or bronchial circulation is disturbed, flow occurs inside the anastomoses to supplement the other flow, especially flow from the bronchial to the pulmonary arteries via the anastomoses, which occurs within 30 min

  16. Bronchopulmonary arterial anastomosis at the precapillary level in human lung. Visualization using CT angiography compared with microangiography of autopsied lung

    International Nuclear Information System (INIS)

    Purpose: To investigate the interrelationships between the bronchial and pulmonary circulations including the existence of precapillary bronchopulmonary arterial anastomoses. Material and Methods: CT of bronchial arteriography (BAG-CT) was performed in 10 patients and BAG-CT during a pulmonary artery block test (PA-block) in 5 patients with lung cancer. Bronchial and pulmonary circulations were evaluated in 5 autopsied normal lungs by injecting silicone rubber with different colors into the bronchial and pulmonary arteries. Results: BAG-CT correlated well with the findings at silicone rubber injection into lung autopsy samples. BAG-CT demonstrated inflow of contrast medium into the pulmonary artery during PA-block in all cases, while no inflow was observed before and following reversal of PA-block. Mixed silicone rubber was observed in the lobar to subsubsegmental bronchial arteries in all cases and in the subsubsegmental pulmonary artery in one case. Conclusion: Precapillary bronchopulmonary arterial anastomoses may exist at the level of the lobar bronchi to the periphery. If either the pulmonary or bronchial circulation is disturbed, flow occurs inside the anastomoses to supplement the other flow, especially flow from the bronchial to the pulmonary arteries via the anastomoses, which occurs within 30 min. (orig.)

  17. Hip dysplasia in a litter of Domestic Shorthair cats

    International Nuclear Information System (INIS)

    A 14-month-old female Domestic Shorthair cat was presented with bilaterally shallow acetabuli, flattened femoral heads, and subluxation of the hips, changes consistent with hip dysplasia. Follow-up radiographs showed additional osteophyte formation and remodeling of both coxofemoral joints. Two of her female littermate exhibited the same condition. Pelvic examinations of a male from the same litter as well as those of the queen and two other 3-year-old offspring were normal. This report demonstrates that it is likely that genetics plays a role in felinehip dysplasia, although further detailed reports and similar investigations of related cats affected by this condition are needed

  18. COL2A1 Mutation in Spondylometaphyseal Dysplasia Algerian Type

    OpenAIRE

    Matsubayashi, S; Ikema, M.; Ninomiya, Y.; Yamaguchi, K; Ikegawa, S.; Nishimura, G

    2013-01-01

    Spondylometaphyseal dysplasia Algerian type (SMD-A) is an autosomal dominant disorder that was first reported in an Algerian family by Kozlowski et al. [Pediatr Radiol 1988;18:221-226]. Kozlowski's group reported a sporadic case in a 12-year-old Polish boy. They proposed SMD-A as a distinctive skeletal dysplasia and also suggested that a case of SMD reported by Schmidt et al. [J Pediatr 1963;63:106-112] might have had the same disorder. Afterwards, however, no additional report has emerged to...

  19. Ectodermal Dysplasia: A Clinical Overview for the Dental Practitioner.

    Science.gov (United States)

    Halai, Tina; Stevens, Claire

    2015-10-01

    The term ectodermal dysplasia (ED) is used to describe a group of rare congenital disorders characterized by abnormalities of two or more ectodermal structures such as the skin, hair, nails, teeth and sweat glands. This paper will give an overview of the aetiology of ED and describe the manifestations and dental management of this condition. In particular, the important role of the dental practitioner in the identification and management of patients with ED will be highlighted. CPD/Clinical Relevance: Dental practitioners should be aware of the oral features of ectodermal dysplasia and be able to make timely referrals and provide appropriate continuing care for these patients. PMID:26685476

  20. Radiographic Classification of Developmental Dysplasia of the Hip

    Directory of Open Access Journals (Sweden)

    José Julio Requeiro Molina

    2013-08-01

    Full Text Available For over a decade, abduction splinting has been the method of treatment for developmental dysplasia of the hip in the Paquito González Cueto University Pediatric Hospital. This paper is aimed at presenting the dynamic classification for this condition from a radiographic point of view. Representative schemes and radiographies of patients with various stages of developmental hip dysplasia were used for illustrating this classification. The dynamic behavior of the radiographic parameters used in the classification allows gathering diagnostic groups before, during and after treatment in order to assess its final results.

  1. Cerebral Infarct due to Fibromuscular Dysplasia: A Case Report

    Directory of Open Access Journals (Sweden)

    Arzu Tay

    2013-04-01

    Full Text Available The course of cervicocephalic fibromuscular dysplasia is mainly asymptomatic. It is often found as an incidental finding on autopsy or angiography mostly in women and is commonly located in extracranial region of carotid artery. In the present article, we reported a 21 year-old man who has been initially accepted to our intensive care with a tentative diagnosis of cerebrovascular infarct after having symptoms of loss of consciousness and right hemiparesis. He later received a certain diagnosis of fibromuscular dysplasia after neuroimaging findings. This disorder should be considered in differential diagnosis of young stroke patients. [Cukurova Med J 2013; 38(2.000: 305-307

  2. Hip dysplasia and the performing arts: is there a correlation?

    Science.gov (United States)

    Turner, Robert; O'Sullivan, Eilish; Edelstein, Jaime

    2012-03-01

    Dancers frequently present with hip pain. The etiology of this pathology has not been clearly identified from an anatomical perspective. Structural variations including hip dysplasia and dynamic variables from the foot to the pelvis will be discussed. Understanding the etiology as a structural entity, neuromuscular entity or a combination of the two, allows for a successful rehabilitative process and a successful return to dance. This article describes the possible correlation between hip dysplasia and hip pain in the dancer, the relationship of dance postures to the kinematic chain and outlines possible treatment strategies for management.

  3. Radiographic signs of acetabular dysplasia of the adult hip

    Energy Technology Data Exchange (ETDEWEB)

    Lingg, G.; von Torklus, D.

    1981-06-01

    Many papers have been published about the different types of measurements used in the evaluation of hip dysplasia in the pediatric age group. However, there are no publications that deal with this topic regarding adults. The authors present an initial series of measurements of the angle of the roof of the acetabulum in 100 randomized asymptomatic adult males. The normal value ranged from -10/sup 0/ to +10/sup 0/. These measurements were correlated with those described by Wiberg. The combination of both methods yields highly reliable information in the evaluation of hip dysplasia.

  4. [The biological kinetics of biofilms of clinical strains of Staphylococcus aureus and Pseudomonas aeruginosa separated from patients with bronchopulmonary complications under traumatic disease of spinal cord].

    Science.gov (United States)

    Ul'ianov, V Iu; Opredelentseva, S V; Shvidenko, I G; Norkin, I A; Korshunov, G V; Gladkova, E V

    2014-08-01

    The capacity and intensity of formation of microbial biofilms was analyzed in 24 strains of Staphylococcus aureus and Pseudomonas aeruginosa in static conditions of cultivation during 24, 48, 72 and 96 yours. The microorganisms were separated from patients with bronchopulmonary infectious complications in acute and early periods of traumatic disease of spinal cord.

  5. Functional state of the bronchopulmonary system in Mayak nuclear workers inhaled plutonium-239 aerosols

    Energy Technology Data Exchange (ETDEWEB)

    Belyaeva, Z.; Grigoryeva, E.; Khokhryakov, V. [Southern Urals Biophysics Institute, Ozyorsk (Russian Federation)

    2006-07-01

    Full text of publication follows: The current system of the individual and collective protection facilities for nuclear personnel permits decreasing the radiation dose from internal emitters at the most. At the same time, specific production conditions do not exclude possible inhalation of plutonium-239 aerosols. As the lung is the critical organ for this isotope, the study of respiratory function is aimed at detecting of pre-clinical lung pathology. Early detection of internal exposure effects on functional state of respiratory apparatus is difficult due to a number of confounding actors of non-radiation nature, one of which is smoking. Functional state of bronchopulmonary system was studied in 386 males, workers of the first Russian nuclear facility. 1198 examinations were carried out during medical inspection as well as hospitalization for routine preventive inspection. Most of males (39.4%) started working at the age of 21-26 years and 27.2% at the age of 20 years. The main factors of occupational exposure were exposure to plutonium-239 aerosols and the external gamma -rays. The absorbed dose to lungs from incorporated plutonium-239 was 0-435.8 c Gy. Whole-body external gamma dose varied from 0 to 382 c Gy at the examination. Individual dosimetry data were provided by the Mayak Radiation Safety Department and Internal Dosimetry Laboratory of the Southern Urals Biophysics Institute. While studying respiratory function, the most informative indices characterizing the state of lung tissue and tracheobronchial system such as vital capacity inspiration, forced expiratory volume, forced inspiratory volume, test Tiffno, diffusion capacity, characteristics of the flow vs. volume of the forced vital capacity inspiration curve, and resistance were used. Analysis was done separately for smokers and nonsmokers. Smoking index, i.e. product of number of smoked cigarettes per day and number of years of smoking was considered an integral value. The study did not reveal the

  6. The pathogenesis of renal dysplasia. I. Quantification of hypoplasia and dysplasia.

    Science.gov (United States)

    Schwarz, R D; Stephens, F D; Cussen, L J

    1981-09-01

    In order to assess the relative effects of abnormal ureteric orifice position and abnormal urodynamics on the morphogenesis of hypoplasia and dysplasia in kidneys obtained from infants, we devised a method of quantifying the renal structures. The method was based on radial glomerular counts which ranged from zero to normal (seven to nine), a score for dysplastic structures, and the ratio of normal to abnormal tissues present. These three values, when plotted against each other, correlated closely. The glomerular count, with occasional minor adjustment for inconsistencies, was the best parameter of hypodysplasia. Severe to moderate grades of hypodysplasias fell in the low and middle ranges and hypoplasia through to normal in the highest range. By grading kidneys in this way, we were able to compare the effects of ureteral ectopy and abnormal urinary dynamics on the developing kidney. PMID:7024184

  7. Arrhythmogenic right ventricular cardiomyopathy/dysplasia.

    Science.gov (United States)

    Thiene, Gaetano; Corrado, Domenico; Basso, Cristina

    2007-01-01

    Arrhythmogenic right ventricular cardiomyopathy/dysplasia (ARVC/D) is a heart muscle disease clinically characterized by life-threatening ventricular arrhythmias. Its prevalence has been estimated to vary from 1:2,500 to 1:5,000. ARVC/D is a major cause of sudden death in the young and athletes. The pathology consists of a genetically determined dystrophy of the right ventricular myocardium with fibro-fatty replacement to such an extent that it leads to right ventricular aneurysms. The clinical picture may include: a subclinical phase without symptoms and with ventricular fibrillation being the first presentation; an electrical disorder with palpitations and syncope, due to tachyarrhythmias of right ventricular origin; right ventricular or biventricular pump failure, so severe as to require transplantation. The causative genes encode proteins of mechanical cell junctions (plakoglobin, plakophilin, desmoglein, desmocollin, desmoplakin) and account for intercalated disk remodeling. Familiar occurrence with an autosomal dominant pattern of inheritance and variable penetrance has been proven. Recessive variants associated with palmoplantar keratoderma and woolly hair have been also reported. Clinical diagnosis may be achieved by demonstrating functional and structural alterations of the right ventricle, depolarization and repolarization abnormalities, arrhythmias with the left bundle branch block morphology and fibro-fatty replacement through endomyocardial biopsy. Two dimensional echo, angiography and magnetic resonance are the imaging tools for visualizing structural-functional abnormalities. Electroanatomic mapping is able to detect areas of low voltage corresponding to myocardial atrophy with fibro-fatty replacement. The main differential diagnoses are idiopathic right ventricular outflow tract tachycardia, myocarditis, dialted cardiomyopathy and sarcoidosis. Only palliative therapy is available and consists of antiarrhythmic drugs, catheter ablation and

  8. Arrhythmogenic right ventricular cardiomyopathy/dysplasia

    Directory of Open Access Journals (Sweden)

    Basso Cristina

    2007-11-01

    Full Text Available Abstract Arrhythmogenic right ventricular cardiomyopathy/dysplasia (ARVC/D is a heart muscle disease clinically characterized by life-threatening ventricular arrhythmias. Its prevalence has been estimated to vary from 1:2,500 to 1:5,000. ARVC/D is a major cause of sudden death in the young and athletes. The pathology consists of a genetically determined dystrophy of the right ventricular myocardium with fibro-fatty replacement to such an extent that it leads to right ventricular aneurysms. The clinical picture may include: a subclinical phase without symptoms and with ventricular fibrillation being the first presentation; an electrical disorder with palpitations and syncope, due to tachyarrhythmias of right ventricular origin; right ventricular or biventricular pump failure, so severe as to require transplantation. The causative genes encode proteins of mechanical cell junctions (plakoglobin, plakophilin, desmoglein, desmocollin, desmoplakin and account for intercalated disk remodeling. Familiar occurrence with an autosomal dominant pattern of inheritance and variable penetrance has been proven. Recessive variants associated with palmoplantar keratoderma and woolly hair have been also reported. Clinical diagnosis may be achieved by demonstrating functional and structural alterations of the right ventricle, depolarization and repolarization abnormalities, arrhythmias with the left bundle branch block morphology and fibro-fatty replacement through endomyocardial biopsy. Two dimensional echo, angiography and magnetic resonance are the imaging tools for visualizing structural-functional abnormalities. Electroanatomic mapping is able to detect areas of low voltage corresponding to myocardial atrophy with fibro-fatty replacement. The main differential diagnoses are idiopathic right ventricular outflow tract tachycardia, myocarditis, dialted cardiomyopathy and sarcoidosis. Only palliative therapy is available and consists of antiarrhythmic drugs

  9. Surgical Management of Seizures with Focal Cortical Dysplasia

    Directory of Open Access Journals (Sweden)

    J Gordon Millichap

    2003-12-01

    Full Text Available Anatomical-clinical correlations and EEG findings in 10 children, aged 26 months to 11 years (median 6 years, with drug resistant partial epilepsy and focal cortical dysplasia, operated on 1996-2000, were analysed at the Epilepsy Surgery Centre “C Munari” in Milan, Italy.

  10. Craniofacial and temporal bone CT findings in cleidocranial dysplasia

    Energy Technology Data Exchange (ETDEWEB)

    Gonzalez, Guido E. [Massachusetts General Hospital and Harvard Medical School, Department of Radiology, Boston, MA (United States); Clinica Alemana de Santiago, Departamento de Imagenes, Santiago (Chile); Caruso, Paul A.; Curtin, Hugh D. [Massachusetts Eye and Ear Infirmary and Harvard Medical School, Department of Radiology, Boston, MA (United States); Small, Juan E. [Massachusetts General Hospital and Harvard Medical School, Department of Radiology, Boston, MA (United States); Massachusetts Eye and Ear Infirmary and Harvard Medical School, Department of Radiology, Boston, MA (United States); Jyung, Robert W. [Massachusetts Eye and Ear Infirmary and Harvard Medical School, Department of Otology, Boston, MA (United States); Troulis, Maria J. [Massachusetts General Hospital and Harvard Medical School, Department of Oral and Maxillofacial Surgery, Boston, MA (United States)

    2008-08-15

    Cleidocranial dysplasia (CCD) is a multistructural polyostotic genetic disorder that results from mutation of the CBFA1 gene. Hearing loss is a frequent finding in CCD. We describe the CT craniofacial findings in CCD and provide a comprehensive discussion of the CT temporal bone findings in these patients. (orig.)

  11. Colorectal cancer and dysplasia in inflammatory bowel disease.

    Science.gov (United States)

    Zisman, Timothy L; Rubin, David T

    2008-05-01

    Both ulcerative colitis and Crohn's disease carry an increased risk of developing colorectal cancer. Established risk factors for cancer among patients with inflammatory bowel disease (IBD) include the younger age at diagnosis, greater extent and duration of disease, increased severity of inflammation, family history of colorectal cancer and coexisting primary sclerosing cholangitis. Recent evidence suggests that current medical therapies and surgical techniques for inflammatory bowel disease may be reducing the incidence of this complication. Nonetheless heightened vigilance and a careful, comprehensive approach to prevent or minimize the complications of invasive cancer are warranted in this unique cohort of patients. Current guidelines for the prevention and early detection of cancer in this high risk population are grounded in the concept of an inflammation-dysplasia-carcinoma sequence. A thorough understanding of the definition and natural history of dysplasia in IBD, as well as the challenges associated with detection and interpretation of dysplasia are fundamental to developing an effective strategy for surveillance and prevention, and understanding the limitations of the current approach to prevention. This article reviews the current consensus guidelines for screening and surveillance of cancer in IBD, as well as presenting the evidence and rationale for chemoprevention of cancer and a discussion of emerging technologies for the detection of dysplasia. PMID:18461651

  12. A Case of Solitary Nonvascularized Corneal Epithelial Dysplasia

    Directory of Open Access Journals (Sweden)

    Tomoya Morii

    2016-01-01

    Full Text Available Background. Epithelial dysplasia is categorized as conjunctival/corneal intraepithelial neoplasia which is a precancerous lesion. The lesion is usually developed at the limbal region and grows towards central cornea in association with neovascularization into the lesion. Here, we report a case of isolated nonvascularized corneal epithelial dysplasia surrounded by normal corneal epithelium with immune histochemical finding of ocular surface tissues cytokeratins, for example, keratin 13 and keratin 12. Case Presentation. A 76-year-old man consulted us for visual disturbance with localized opacification of the corneal epithelium in his left eye. His visual acuity was 20/20 and 20/200 in his right and left eye, respectively. Slit lamp examination showed a whitish plaque-like lesion at the center of his left corneal epithelium. No vascular invasion to the lesion was found. The lesion was surgically removed and subjected to histopathological examination and diagnosed as epithelial dysplasia. Amyloidosis was excluded by direct fast scarlet 4BS (DFS staining. Immunohistochemistry showed that the dysplastic epithelial cells express keratin 13 and vimentin, but not keratin 12, indicating that the neoplastic epithelial cells lacked corneal-type epithelium differentiation. Conclusions. The lesion was diagnosed as nonvascularized epithelial dysplasia of ocular surface. Etiology of the lesion is not known.

  13. A Case of Solitary Nonvascularized Corneal Epithelial Dysplasia

    Science.gov (United States)

    Morii, Tomoya; Sumioka, Takayoshi; Izutani-Kitano, Ai; Takada, Yukihisa; Okada, Yuka; Kao, Winston W.-Y.; Saika, Shizuya

    2016-01-01

    Background. Epithelial dysplasia is categorized as conjunctival/corneal intraepithelial neoplasia which is a precancerous lesion. The lesion is usually developed at the limbal region and grows towards central cornea in association with neovascularization into the lesion. Here, we report a case of isolated nonvascularized corneal epithelial dysplasia surrounded by normal corneal epithelium with immune histochemical finding of ocular surface tissues cytokeratins, for example, keratin 13 and keratin 12. Case Presentation. A 76-year-old man consulted us for visual disturbance with localized opacification of the corneal epithelium in his left eye. His visual acuity was 20/20 and 20/200 in his right and left eye, respectively. Slit lamp examination showed a whitish plaque-like lesion at the center of his left corneal epithelium. No vascular invasion to the lesion was found. The lesion was surgically removed and subjected to histopathological examination and diagnosed as epithelial dysplasia. Amyloidosis was excluded by direct fast scarlet 4BS (DFS) staining. Immunohistochemistry showed that the dysplastic epithelial cells express keratin 13 and vimentin, but not keratin 12, indicating that the neoplastic epithelial cells lacked corneal-type epithelium differentiation. Conclusions. The lesion was diagnosed as nonvascularized epithelial dysplasia of ocular surface. Etiology of the lesion is not known. PMID:27042371

  14. Pathophysiology, diagnosis, and treatment of canine hip dysplasia

    International Nuclear Information System (INIS)

    Dogs with hip dysplasia are commonly presented to veterinarians for evaluation. Although many causes of the condition have been proposed, a definitive cause has not been established. The multifactorial nature of canine hip dysplasia can confuse client education and management ofthe disease. The basic concept involved is the biomechanical imbalance between the forces on the coxofemoral joint and the associated muscle mass; the result is joint laxity in young, growing dogs. This laxity leads to incongruity; the eventual result is degenerative joint disease. Canine hip dysplasia can affect any breed but is most often reported in large and giant breeds. Understanding the pathophysiology and biomechanics involved with this developmental disease is important in providing clients with diagnostic, therapeutic, and prognostic information. The selection of treatment is influenced by the following factors:the age, health, and intended use of the patient; clinical signs; diagnostic findings; the availability of treatment; and the financial constraints of the owner. This article discusses the current concepts concerning the pathophysiology and biomechanics of canine hip dysplasia and outlines diagnostic and therapeutic options. The objective of the article is to provide practitioners with a reference for decision making and client education

  15. Prenatal diagnosis and epidemiology of multicystic kidney dysplasia in Europe

    DEFF Research Database (Denmark)

    Winding, Louise; Loane, Maria; Wellesley, Diana;

    2014-01-01

    OBJECTIVES: The aim of this study is to describe the prenatal diagnosis and epidemiology of multicystic kidney dysplasia (MCKD). METHODS: The study is based on routinely collected data from a European database of major congenital anomalies including 13 registries with cases born in 1997...

  16. RUNX2 analysis of Danish cleidocranial dysplasia families

    DEFF Research Database (Denmark)

    Hansen, L; Riis, A K; Silahtaroglu, A;

    2011-01-01

    Cleidocranial dysplasia (CCD) is an autosomal dominant inherited disease caused by mutations in the Runt gene RUNX2. Screening of 19 Danish CCD families revealed 16 pathogenic mutations (84%) representing 8 missense mutations, 2 nonsense mutations, 4 frame-shift mutations and 2 large deletions...

  17. Colorectal cancer and dysplasia in inflammatory bowel disease

    Institute of Scientific and Technical Information of China (English)

    Timothy L Zisman; David T Rubin

    2008-01-01

    Both ulcerative colitis and Crohn's disease carry an increased risk of developing colorectal cancer.Established risk factors for cancer among patients with inflammatory bowel disease (IBD) include the younger age at diagnosis,greater extent and duration of disease,increased severity of inflammation,family history of colorectal cancer and coexisting primary sclerosing cholangitis.Recent evidence suggests that current medical therapies and surgical techniques for inflammatory bowel disease may be reducing the incidence of this complication.Nonetheless heightened vigilance and a careful,comprehensive approach to prevent or minimize the complications of invasive cancer are warranted in this unique cohort of patients.Current guidelines for the prevention and early detection of cancer in this high risk population are grounded in the concept of an inflammation-dysplasia-carcinoma sequence.A thorough understanding of the definition and natural history of dysplasia in IBD,as well as the challenges associated with detection and interpretation of dysplasia are fundamental to developing an effective strategy for surveillance and prevention,and understanding the limitations of the current approach to prevention.This article reviews the current consensus guidelines for screening and surveillance of cancer in IBD,as well as presenting the evidence and rationale for chemoprevention of cancer and a discussion of emerging technologies for the detection of dysplasia.

  18. Anemia in a neonate with placental mesenchymal dysplasia.

    Science.gov (United States)

    Ishikawa, Satoshi; Morikawa, Mamoru; Umazume, Takeshi; Yamada, Takahiro; Kanno, Hiromi; Takakuwa, Emi; Minakami, Hisanori

    2016-05-01

    Causes of intrauterine fetal death (IUFD) are uncertain in most placental mesenchymal dysplasia (PMD) cases. Our case showed high α-fetoprotein levels in the maternal circulation, markedly dilated subchorionic vessels, and neonatal hemoglobin concentration of 8.4 g/dL, suggesting that fetal anemia may explain some adverse outcomes in PMD pregnancies. PMID:27190607

  19. Anemia in a neonate with placental mesenchymal dysplasia

    OpenAIRE

    Ishikawa, Satoshi; Morikawa, Mamoru; Umazume, Takeshi; Yamada, Takahiro; Kanno, Hiromi; Takakuwa, Emi; Minakami, Hisanori

    2016-01-01

    Key Clinical Message Causes of intrauterine fetal death (IUFD) are uncertain in most placental mesenchymal dysplasia (PMD) cases. Our case showed high α‐fetoprotein levels in the maternal circulation, markedly dilated subchorionic vessels, and neonatal hemoglobin concentration of 8.4 g/dL, suggesting that fetal anemia may explain some adverse outcomes in PMD pregnancies.

  20. QT dispersion in patients with arrhythmogenic right ventricular dysplasia

    DEFF Research Database (Denmark)

    Benn, Marianne; Hansen, P S; Pedersen, A K

    1999-01-01

    , of electrical instability. The present study was conducted to assess the occurrence of QT dispersion and its modulation during treatment with sotalol. Methods Twenty-five patients with the diagnosis of arrhythmogenic right ventricular dysplasia were studied retrospectively. Fourteen patients were considered low...

  1. Black hair follicular dysplasia, an autosomal recessive condition in dogs.

    OpenAIRE

    Schmutz, S M; Moker, J S; Clark, E.G.; Shewfelt, R

    1998-01-01

    Using histology, a coat color abnormality and the subsequent hair loss were diagnosed as black hair follicular dysplasia. A pedigree analysis of an affected litter and literature review suggests that this is inherited as an autosomal recessive trait. The melanocyte stimulating hormone receptor gene is ruled out by using linkage analysis.

  2. Hip dysplasia in a 6-year-old Salz ram

    OpenAIRE

    Loste, Araceli; Ramos, Juan José; Sáez, Teófilo; Sever, Ramón; Marca, Carmen

    2003-01-01

    A 6-year old Salz ram was presented with a history of poor body condition, progressive gait abnormalities, pelvic limb lameness, and difficulty with copulation. Based on the history, clinical signs, hip palpation, and radiography, a diagnosis of hip dysplasia, previously unreported in sheep, was made.

  3. Prenatal 3D Ultrasound Diagnostics in Cleidocranial Dysplasia

    DEFF Research Database (Denmark)

    Hermann, NV; Hove, HD; Jørgensen, C;

    2009-01-01

    A 34-year-old Caucasian woman with cleidocranial dysplasia (CCD) and a known family history of CCD was referred for an ultrasound examination in the first trimester of her second pregnancy. Molecular genetic analysis of the RUNX2 gene was non-informative. A routine 2D ultrasound examination carried...

  4. Endoscopic options for treatment of dysplasia in Barrett'sesophagus

    Institute of Scientific and Technical Information of China (English)

    2015-01-01

    Recent advances in the endoscopic treatment of dysplasiain Barrett's esophagus (BE) have allowed endoscopists toprovide effective and durable eradication therapies. Thisreview summarizes the available endoscopic eradicationtechniques for dysplasia in patients with BE includingendoscopic mucosal resection, endoscopic submucosaldissection, photodynamic therapy, argon plasma coagulation,radiofrequency ablation and cryotherapy.

  5. Prevalence and co-occurrence of hip dysplasia and elbow dysplasia in Dutch pure-bred dogs

    NARCIS (Netherlands)

    Lavrijsen, Ineke; Heuven, Henri; Meij, Bjorn; Theyse, Lars; Nap, R.C.; Leegwater, Peter; Hazewinkel, Herman

    2014-01-01

    tHip as well as elbow dysplasia (HD, ED) are developmental disorders leading to malforma-tion of their respective joints. For a long time both disorders have been scored and targetedfor improvement using selective breeding in several Dutch dog populations. In this paperall scores for both HD and ED,

  6. Prevalence and co-occurrence of hip dysplasia and elbow dysplasia in Dutch pure-bred dogs

    NARCIS (Netherlands)

    Lavrijsen, I.C.M.; Heuven, H.C.M.; Meij, B.P.; Theyse, L.F.H.; Nap, R.C.; Leegwater, P.A.J.; Hazewinkel, H.A.W.

    2014-01-01

    Hip as well as elbow dysplasia (HD, ED) are developmental disorders leading to malformation of their respective joints. For a long time both disorders have been scored and targeted for improvement using selective breeding in several Dutch dog populations. In this paper all scores for both HD and ED,

  7. Craniotubular dysplasia with severe postnatal growth retardation, mental retardation, ectodermal dysplasia, and loose skin: Lenz-Majewski-like syndrome.

    Science.gov (United States)

    Nishimura, G; Harigaya, A; Kuwashima, M; Kuwashima, S

    1997-07-11

    The heterogeneous group of craniotubular dysplasias is characterized by modeling errors of the craniofacial and tubular bones. Some conditions in this category cause not only skeletal abnormalities but also a variety of mesoectodermal dysplasias, as exemplified in Lenz-Majewski syndrome (MIM 151050), which comprises craniodiaphyseal dysplasia, failure to thrive, mental retardation, proximal symphalangism, enamel hypoplasia, and loose skin. We report on a boy with a hitherto unknown multisystem disorder, including skeletal changes that were regarded as a form of craniotubular dysplasia. The patient had a large head, exophthalmos, a broad nasal root, anteverted nostrils, large auricles, thick lips, micrognathia, severe postnatal growth retardation with emaciation, severe mental retardation, sparse hair growth, enamel hypoplasia, and thin, loose skin with hyperlaxity. Skeletal changes consisted of thickened calvaria, sclerosis of the skull base and facial bones, thick ribs, and metaphyseal undermodeling of the tubular bones. In addition, generalized osteopenia was evident. The present disorder overlaps phenotypically with Lenz-Majewski syndrome; nevertheless, the absence of diaphyseal hyperostosis and proximal symphalangism in the present patient was not consistent with Lenz-Majewski syndrome.

  8. Mutations in the Gene Encoding the Calcium-Permeable Ion Channel TRPV4 Produce Spondylometaphyseal Dysplasia, Kozlowski Type and Metatropic Dysplasia

    Science.gov (United States)

    Krakow, Deborah; Vriens, Joris; Camacho, Natalia; Luong, Phi; Deixler, Hannah; Funari, Tara L.; Bacino, Carlos A.; Irons, Mira B.; Holm, Ingrid A.; Sadler, Laurie; Okenfuss, Ericka B.; Janssens, Annelies; Voets, Thomas; Rimoin, David L.; Lachman, Ralph S.; Nilius, Bernd; Cohn, Daniel H.

    2009-01-01

    The spondylometaphyseal dysplasias (SMDs) are a group of short-stature disorders distinguished by abnormalities in the vertebrae and the metaphyses of the tubular bones. SMD Kozlowski type (SMDK) is a well-defined autosomal-dominant SMD characterized by significant scoliosis and mild metaphyseal abnormalities in the pelvis. The vertebrae exhibit platyspondyly and overfaced pedicles similar to autosomal-dominant brachyolmia, which can result from heterozygosity for activating mutations in the gene encoding TRPV4, a calcium-permeable ion channel. Mutation analysis in six out of six patients with SMDK demonstrated heterozygosity for missense mutations in TRPV4, and one mutation, predicting a R594H substitution, was recurrent in four patients. Similar to autosomal-dominant brachyolmia, the mutations altered basal calcium channel activity in vitro. Metatropic dysplasia is another SMD that has been proposed to have both clinical and genetic heterogeneity. Patients with the nonlethal form of metatropic dysplasia present with a progressive scoliosis, widespread metaphyseal involvement of the appendicular skeleton, and carpal ossification delay. Because of some similar radiographic features between SMDK and metatropic dysplasia, TRPV4 was tested as a disease gene for nonlethal metatropic dysplasia. In two sporadic cases, heterozygosity for de novo missense mutations in TRPV4 was found. The findings demonstrate that mutations in TRPV4 produce a phenotypic spectrum of skeletal dysplasias from the mild autosomal-dominant brachyolmia to SMDK to autosomal-dominant metatropic dysplasia, suggesting that these disorders should be grouped into a new bone dysplasia family. PMID:19232556

  9. Lower-limb valgus deformity associated with developmental hip dysplasia

    Institute of Scientific and Technical Information of China (English)

    GUO Sheng-jie; ZHOU Yi-xin; YANG De-jin; YANG Xu-cheng

    2012-01-01

    Background Treating developmental dysplasia of the hip is often challenging.The difficulties include not only the hip surgery itself but also the treatment of the associated lower-limb valgus deformity However,there have been very few studies on such deformity in patients with developmental hip dysplasia.In this study,we investigated the prevalence and severity of lower-limb valgus deformity,along with the relationship between the severity ef valgus deformity and mechanical alterations of the hip or the ipsilateral knee.Methods Two hundred and six affected lower limbs of 116 adult patients with untreated developmental dysplasia of the hip were included in the study,grouped according to the severity of hip dysplasia.Each study participant's radiographs were measured to quantitatively evaluate the mechanical axis deviation of the lower limb,and further to evaluate the prevalence and severity of the lower-limb valgus deformity.Some mechanical alterations of the hip and the ipsilateral knee were also measured on the radiographs.Results Of the affected lower limbs,14.1% had valgus deformities.Study participants with Crowe typeⅢ?hip dysplasiahad the most severe deformity and the highest prevalence of deformity.Severity of valgus deformity had a strong positive correlation with the lateral migration of the femoral head but not with the superior migration.A decreased lateral distal femoral angle contributed to the lower-limb valgus deformity,and the lateral distal femoral angle had a strong negative correlation with the severity of valgus deformity.Conclusions Hip dysplasia is commonly associated with lower-limb valgus deformity,and the severity of the lower-limb valgus deformity is mostly affected by lateral migration but not superior migration of the femoral head.The valgus deformity may originate mainly in the distal femur,in addition to the hip joint itself.These findings can be taken into account when planning to treat the patients with hip dysplasia.

  10. Prosthetic rehabilitation of an adolescent with hypohidrotic ectodermal dysplasia with partial anodontia: Case report

    Directory of Open Access Journals (Sweden)

    Kaul S

    2008-01-01

    Full Text Available Ectodermal dysplasia is a hereditary syndrome characterized by dysplasia of tissues of ectodermal origin (hair, skin, nails, and teeth and occasionally, dysplasia of mesodermally derived tissues. The triad of nail dystrophy (onychodysplasia, alopecia, or hypotrichosis (scanty, fine, light hair on the scalp and eyebrows and palmoplantar hypohidrosis is usually accompanied by lack of sweat glands and partial or complete absence of primary and permanent dentition. Hypohidrotic ectodermal dysplasia usually has an X-linked inheritance and affects only males severely, while female heterozygotes show only minor defects. The clinical management of children with ectodermal dysplasia provides a unique opportunity for cooperative effort between the pedodontist and the prosthodontist. The following case report discusses the management of a young boy with hypohidrotic ectodermal dysplasia. Removable prostheses were employed in the treatment. The aim was to rehabilitate the adolescent prosthodontically and boost him psychologically.

  11. Automated measurement of diagnostic angles for hip dysplasia

    DEFF Research Database (Denmark)

    de Raedt, Sepp; Mechlenburg, Inger Buur; Stilling, Maiken;

    2013-01-01

    A fully automatic method for measuring diagnostic angles of hip dysplasia is presented. The method consists of the automatic segmentation of CT images and detection of anatomical landmarks on the femur and acetabulum. The standard angles used in the diagnosis of hip dysplasia are subsequently....... These values correspond to values found in evaluating interobserver and intraobserver variation for manual measurements. The method can be used in clinical practice to replace the current manual measurements performed by radiologists. In the future, the method will be integrated into an intraoperative surgical...... automatically calculated. Previous work in automating the measuring of angles required the manual segmentation or delineation of the articular joint surface. In the current work automatic segmentation is established using graph-cuts with a cost function based on a sheetness score to detect the sheet...

  12. Influence of anaesthesia on canine hip dysplasia score.

    Science.gov (United States)

    Genevois, J-P; Chanoit, G; Carozzo, C; Remy, D; Fau, D; Viguier, E

    2006-10-01

    Hip dysplasia (HD) scores, based on the five grades, as defined by the Fédération Cynologique Internationale, were compared between anaesthetized (group 1, n = 3839) and non-sedated non-anaesthetized dogs (group 2, n = 1517). Each dog was radiographed in the standard ventro-dorsal hip joint extended position. Each radiograph was evaluated by the same reader blinded regarding the dog's status of anaesthesia. Results showed that there was a significant difference in hip dysplasia prevalence between group 1 (22%) compared with group 2 (9%) (P < 0.005). This difference was the result of a lower rate of hip-joint laxity assessment and the measurement of Norberg-Olsson angle <105 degrees in group 2 compared with group 1. The acetabular and femoral morphologies were not significantly different between the groups. The data confirm that the scoring of dogs for HD on standard radiographs with the hip joints extended is influenced by anaesthesia. PMID:16970631

  13. Treatment of acetabular dysplasia by triple pelvic osteotomy and its short-term results

    OpenAIRE

    Dogan, Ahmet; Zorer, Gazi; Ozer, Utku Erdem

    2004-01-01

    Objectives: We evaluated the effect of triple pelvic osteotomy on acetabular coverage and its clinical implications by clinical and radiographic parameters in patients with acetabular dysplasia. Methods: Triple pelvic osteotomy was performed in 21 hips of 19 patients (13 females, 6 males; mean age during operation 16.3 years; range 8 to 32 years). Acetabular dysplasia was bilateral in two, and unilateral in 17 patients. Etiology was developmental dysplasia of the hip in 12 patients, Legg-C...

  14. Influence of hip dysplasia on the development of osteoarthritis of the hip

    OpenAIRE

    Lievense, Annet; Bierma-zeinstra, Sita; Verhagen, Arianne; Verhaar, JAN; Koes, Bart

    2004-01-01

    textabstractBACKGROUND: It has been suggested that in some patients with primary hip osteoarthritis (OA), the disease occurs as a consequence of acetabular dysplasia or hip dysplasia (HD). OBJECTIVE: To carry out a systematic review to investigate the association between acetabular dysplasia and hip OA. METHODS: A database search of Medline, Embase, and the Cochrane library was carried out, and articles that aimed at studying the relationship between HD and hip OA were identified. The methodo...

  15. Ectrodactyly, ectodermal dysplasia, and cleft lip/palate syndrome: A case report of "Incomplete syndrome"

    OpenAIRE

    P K Shivaprakash; Joshi, Hrishikesh V.; Hina Noorani; Venugopal Reddy

    2012-01-01

    Ectrodactyly, ectodermal dysplasia, and cleft lip/palate (EEC) is a rare syndrome having ectrodactyly, ectodermal dysplasia, and cleft lip/palate. So far, very few cases have been reported in literature. However, we report a case of incomplete EEC syndrome having ectrodactyly and cleft lip and palate with absence of signs of ectodermal dysplasia with no other systemic anomalies. Other feature noted is the syndactyly of toes which is reported rarely in this syndrome. A multidisciplinary approa...

  16. Holoprosencephaly in an Egyptian baby with ectrodactyly-ectodermal dysplasia-cleft syndrome: a case report

    OpenAIRE

    Metwalley Kalil Kotb; Fargalley Hekma

    2012-01-01

    Abstract Introduction Ectrodactyly-ectodermal dysplasia-cleft lip or palate syndrome (OMIM No. 129900) is characterized by the triad of ectrodactyly, ectodermal dysplasia and facial clefting (of the lip and/or palate). Holoprosencephaly denotes a failure in the division of the embryonic forebrain (prosencephalon) into distinct lateral cerebral hemisphere. The association between ectrodactyly-ectodermal dysplasia-cleft lip or palate syndrome and holoprosencephaly is very rare. Here we report h...

  17. Multidisciplinary approach of ectodermal dysplasia with implant retained fixed prosthesis

    Directory of Open Access Journals (Sweden)

    Vishnu Priya

    2013-01-01

    Full Text Available Ectodermal dysplasia represents a group of rare inherited conditions in which two or more ectodermally derived anatomical structures fail to develop. Early dental intervention can improve patient′s appearance, thereby minimizing associated emotional and psychological problems in these patients. Treatment requires a teamwork by medical personnel along with dental professionals of various specialties. Here, a rare case of a young female patient is presented with prosthetic management with implant supported fixed partial denture.

  18. Telescopic overdenture for oral rehabilitation of ectodermal dysplasia patient

    OpenAIRE

    Charu Gupta; Mahesh Verma; Rekha Gupta; Shubhra Gill

    2015-01-01

    Reduced number of teeth with underdeveloped alveolar ridges poses a greatest prosthetic challenge in rehabilitation of ectodermal dysplasia patients (ED). Furthermore, surgical risks and financial constraints may preclude the implant supported prosthesis, the most desirable treatment option in an adult ED patient. Long edentulous span does not permit fixed dental prosthesis (FDP) as well. Telescopic denture by incorporating the best of both fixed and removable prosthesis can be a viable treat...

  19. Septo-optic dysplasia Displasia septo-óptica

    OpenAIRE

    Karina de Ferran; Isla Aguiar Paiva; Daniel Luiz Schueftan Gilban; Monique Resende; Micheline Abreu Rayol de Souza; Izabel Calland Ricarte Beserra; Marilia Martins Guimarães

    2010-01-01

    Septo-optic dysplasia (SOD), also referred to as de Morsier syndrome, is a rare congenital condition, characterized by two of the classic triad features: midline brain abnormalities, optic nerve hypoplasia (ONH) and pituitary endocrine dysfunction. We report 5 children with SOD, originally referred to be evaluated due to short stature, who also presented bilateral optic nerve hypoplasia, nystagmus and development delay. In 4 of the patients, we identified neuroimaging abnormalities of the hyp...

  20. Surgical treatment of fibrous dysplasia in the proximal femur

    OpenAIRE

    TONG, ZHICHAO; Zhang, Wentao; Jiao, Ning; Wang, Kunzheng; Chen, Bo; Yang, Tuanmin

    2013-01-01

    The aim of this study was to summarize oncological and functional results and to investigate surgical treatment methods and efficacies by conducting a retrospective study of patients with fibrous dysplasia (FD) in the proximal femur. A total of 15 patients with FD in the proximal femur were selected. Among them, 12 cases were monostotic and 3 cases were polyostotic. In addition, 2 cases were accompanied by shepherd’s crook deformity. All cases received internal fixation following focus curett...

  1. Chahine algorithm to invert light scattering spectroscopy of epithelial dysplasia

    Institute of Scientific and Technical Information of China (English)

    2007-01-01

    To perceive the epithelial dysplasia from the light scattering spectroscopy (LSS) is an inverse problem, which can be transformed into the inversion of the size distribution of epithelial-cell nuclei. Based on the simulation of single polarized LSS for epithelial-cell nuclei, Chahine algorithm is adopted to retrieve the size distribution. Numerical results show that Chahine algorithm has high inversion precision for both single-peaked and bimodal models, which implies the potential to increase diagnostic resolution of LSS.

  2. Bernese periacetabular osteotomy for hip dysplasia: Surgical technique and indications.

    Science.gov (United States)

    Kamath, Atul F

    2016-05-18

    For young, active patients with healthy hip cartilage, pelvic osteotomy is a surgical option in to address hip pain and to improve mechanical loading conditions related to dysplasia. Hip dysplasia may lead to arthrosis at an early age due to poor coverage of the femoral head and abnormal loading of the joint articulation. In patients with symptomatic dysplasia and closed triradiate cartilage (generally over age 10), including adolescents and young adults (generally up to around age 40), the Bernese periacetabular osteotomy (PAO) is a durable technique for addressing underlying structural deformity. The PAO involves a modified Smith-Petersen approach. Advantages of the Bernese osteotomy include preservation of the weight-bearing posterior column of the hemi-pelvis, preservation of the acetabular blood supply, maintenance of the hip abductor musculature, and the ability to effect powerful deformity correction about an ideal center of rotation. There is an increasing body of evidence that preservation of the native hip can be improved through pelvic osteotomy. In contrast to hip osteotomy and joint preservation, the role of total hip arthroplasty in young, active patients with correctable hip deformity remains controversial. Moreover, the durability of hip replacement in young patients is inherently limited. Pelvic osteotomy should be considered the preferred method to address correctable structural deformity of the hip in the young, active patient with developmental dysplasia. The Bernese PAO is technically demanding, yet offers reproducible results with good long-term survivorship in carefully selected patients with preserved cartilage and the ability to meet the demands of rehabilitation. PMID:27190755

  3. Ocular and non-ocular manifestations of hypohidrotic ectodermal dysplasia

    OpenAIRE

    Tyagi, Pallavi; Tyagi, Vipin; Hashim, Adnan A

    2011-01-01

    Hypohidrotic ectodermal dysplasia (HED) is a group of rare multisystemic genetic syndromes that affects ectodermal structures such as skin, hair, nails, teeth and sweat glands. The authors present a case of a child with ocular and dermatological signs of HED along with severe involvement of other multiple organ systems. The family history could be traced to four generations and there was an observed trend of increase in severity of signs and symptoms occurring at younger age. The purpose of t...

  4. AN UNUSUAL CASE OF ASYMPTOMATIC APLASTIC RENAL DYSPLASIA

    Institute of Scientific and Technical Information of China (English)

    LouisTsun-CheungChow; Wing-HingChow

    1995-01-01

    The postmortem examination of a 59-year-old man who had suffered from acute abdominal pain for two days revealed that the cause of death was peritonitis secondary to perforated peptic ulceration. During examination,it was found that the urinary tract was abnormal. Here,we report a postmortem finding of aplastic renal dysplasia of the kidney and malformation of Lhe urinary tract.

  5. Pelvic orientation and assessment of hip dysplasia in adults

    DEFF Research Database (Denmark)

    Jacobsen, Steffen; Sonne-Holm, Stig; Lund, Bjarne;

    2004-01-01

    point and reproducible readings, especially in epidemiological and clinical studies, and when performing preoperative planning and follow-up of patients undergoing redirectional pelvic osteotomies, it is important that all aspects of the radiographic examination are controlled and reproducible....... Furthermore, we found that studies of acetabular dysplasia based on supine urograms or colon radiographs without information about pelvic orientation, centering of the X-ray beam and tube to film distance, run a serious risk of erroneous measurements....

  6. Dosimetry of computerized tomography in the evaluation of hip dysplasia

    Energy Technology Data Exchange (ETDEWEB)

    Guyer, B.; Bassano, D.A.; Levinsohn, E.M.; Smith, D.S.; Cady, R.B.

    1984-07-01

    The usefulness of computerized tomography (CT) in the assessment of hip dysplasia has recently been given attention in the literature and concern regarding radiation dose has been raised. This study was undertaken to measure the radiation dose, both in and out of plaster, for plain films, arthrography, tomography, and CT. A method is suggested to reduce dosage by 80% without compromising diagnostic information. Our experience with 25 scans of patients aged 4 months to 39 years is presented.

  7. Case study of right ventricle arrhythmogenic dysplasia within one family

    OpenAIRE

    Bockeria L.A.; Shatalov K. V.; Berseneva M. I.; Koloskova N. N.

    2012-01-01

    We present the clinical case of arrhythmogenic cardiomyopathy and the analysis of different manifestations of this disease within one family. Three brothers D. born in 1986, 1988 and 1998 were observed between 2009 and 2011. Echocardiography, magnetic resonance imaging, histologic study were used as the methods of examination. According to their results the arrhythmogenic right ventricular dysplasia was diagnosed. Elder child had manifestations of end-stage heart failure which required hea...

  8. Familial osteochondritis dissecans a dysplasia of articular cartilage

    Energy Technology Data Exchange (ETDEWEB)

    Kozlowski, K.; Middleton, R.

    1985-03-01

    Two cases of osteochondritis dissecans in a boy and his mother are described. In the son only the knee and elbow joints and the epiphysis of the right second metacarpal were involved, whereas the mother showed early generalised degenerative joint disease associated with many large loose bodies in one knee. The authors speculate that familial osteochondritis dissecans is a dysplasia of articular cartilage caused by abnormal chondrocyte metabolism.

  9. Thanatophoric dysplasia, an enigmatic dilemma: a case report

    Directory of Open Access Journals (Sweden)

    Chanda Rai

    2016-08-01

    Full Text Available Thanatophoric dysplasia is a rare, fatal form of skeletal dysplasia that affects fetus in utero. It is characterized by marked underdevelopment of fetal skeleton and short limbs. This disorder can be diagnosed antenatally and the couple should be counselled for termination of pregnancy. 20 years old female came in her second trimester carrying an ultrasound report which showed features of thanatophoric dwarfism. She was advised to terminate her pregnancy but she decided to continue with her pregnancy. She was induced after 40 weeks and she delivered a stillborn baby with dwarf like features, a condition identified as thanatophoric dwarfism. Early diagnosis can be done by ultrasound as early as 13 weeks of gestation and since babies born with thanatophoric dysplasia have a very poor prognosis, couples should be counselled regarding early termination of pregnancy. 3D ultrasound scan and molecular analysis can also help identify this disorder. [Int J Reprod Contracept Obstet Gynecol 2016; 5(8.000: 2856-2858

  10. Identification of quantitative trait loci (QTL for canine hip dysplasia and canine elbow dysplasia in Bernese mountain dogs.

    Directory of Open Access Journals (Sweden)

    Sophia Pfahler

    Full Text Available A genome-wide association study for canine hip dysplasia (CHD and canine elbow dysplasia (CED using the Illumina canine high density bead chip had been performed for 174 Bernese mountain dogs. General and mixed linear model analysis identified two different regions with single nucleotide polymorphisms (SNPs on dog chromosome (CFA 14 significantly associated with CHD and a further significantly CHD-associated region on CFA37. For CED, four SNPs on CFA11 and 27 were significantly associated. The identified SNPs of four associated regions included nearby candidate genes. These possible positional candidates were the genes PON2 on CFA14 and FN1 on CFA37 for CHD and the genes LMNB1 on CFA11 and WNT10B on CFA27 for CED.

  11. Primary alveolar capillary dysplasia (acinar dysplasia) and surfactant protein B deficiency: a clinical, radiological and pathological study

    Energy Technology Data Exchange (ETDEWEB)

    Hugosson, Claes O.; Khoumais, Nuha [King Faisal Specialist Hospital and Research Centre, Department of Radiology MBC 28, Riyadh (Saudi Arabia); Salama, Husam M.; Kattan, Abdul H. [King Faisal Specialist Hospital and Research Centre, Department of Paediatrics, Riyadh (Saudi Arabia); Al-Dayel, Fouad [King Faisal Specialist Hospital and Research Centre, Department of Pathology, Riyadh (Saudi Arabia)

    2005-03-01

    Full-term infants with severe and prolonged respiratory distress represent a diagnostic challenge. Plain radiographic findings may be nonspecific or similar to classic surfactant deficiency disease for infants with surfactant protein B deficiency and acinar dysplasia. Objectives: To describe the similar clinical-radiolgical patterns of two rare neonatal conditions. Six newborn babies with severe respiratory distress at birth demonstrated clinical and radiographically prolonged and progressive diffuse pulmonary opacification. All infants demonstrated hyperinflation of the lungs. The diffuse hazy opacification, which varied from mild (n=3) to moderate (n=3), progressed to severe diffuse opacification preceding death, which occurred at 12-36 days of life. Open lung biopsy confirmed the diagnosis of primary alveolar acinar dysplasia (AD) in four infants and surfactant protein B deficiency (SPBD) in two infants. In full-term babies with unexplained progressive respiratory distress from birth and progress of radiological changes, both AD and SPBD should be considered. (orig.)

  12. Primary alveolar capillary dysplasia (acinar dysplasia) and surfactant protein B deficiency: a clinical, radiological and pathological study

    International Nuclear Information System (INIS)

    Full-term infants with severe and prolonged respiratory distress represent a diagnostic challenge. Plain radiographic findings may be nonspecific or similar to classic surfactant deficiency disease for infants with surfactant protein B deficiency and acinar dysplasia. Objectives: To describe the similar clinical-radiological patterns of two rare neonatal conditions. Six newborn babies with severe respiratory distress at birth demonstrated clinical and radiographically prolonged and progressive diffuse pulmonary opacification. All infants demonstrated hyperinflation of the lungs. The diffuse hazy opacification, which varied from mild (n=3) to moderate (n=3), progressed to severe diffuse opacification preceding death, which occurred at 12-36 days of life. Open lung biopsy confirmed the diagnosis of primary alveolar acinar dysplasia (AD) in four infants and surfactant protein B deficiency (SPBD) in two infants. In full-term babies with unexplained progressive respiratory distress from birth and progress of radiological changes, both AD and SPBD should be considered. (orig.)

  13. Suprabasal expression of Ki-67 as a marker for the severity of oral epithelial dysplasia and oral squamous cell carcinoma

    OpenAIRE

    Nidhi Dwivedi; Shaleen Chandra; Bina Kashyap; Vineet Raj; Akhil Agarwal

    2013-01-01

    Background: Transition of the normal oral epithelium to dysplasia and to malignancy is featured by increased cell proliferation. To evaluate the hypothesis of distributional disturbances in proliferating and stem cells in oral epithelial dysplasia and oral squamous cell carcinoma (OSCC). Aim: To evaluate layer wise expression of Ki-67 in oral epithelial dysplasia and in OSCC. Materials and Methods: Thirty histologically confirmed cases of oral epithelial dysplasia, fifteen cases of OSCC and f...

  14. Cone-beam computed tomography: An inevitable investigation in cleidocranial dysplasia

    Directory of Open Access Journals (Sweden)

    Nandita S Gupta

    2015-01-01

    Full Text Available Cleidocranial dysplasia is a heritable skeletal dysplasia and one of the most common features of this syndrome is multiple impacted supernumerary teeth. Cone-beam computed tomography, the most recent advancement in maxillofacial imaging, provides the clinician to view the morphology of the skull and the dentition in all three dimensions and help in treatment planning for the patient.

  15. Comparative proteomics of rat brain in the BCNU-induced model of cortical dysplasia

    Institute of Scientific and Technical Information of China (English)

    郭谊

    2014-01-01

    Objective To screen the differential proteins in the brain(neocortex and hippocampus)between the rats with cortical dysplasia(CD)and control ones,and investigate the role of their alteration in the development of epilepsy in CD.Methods Cortical dysplasia was induced in rat pups via in utero delivery of BCNU.A two-dimensional electrophoresis

  16. Genetic variances, trends and mode of inheritance for hip and elbow dysplasia in Finnish dog populations

    NARCIS (Netherlands)

    Mäki, K.; Groen, A.F.; Liinamo, A.E.; Ojala, M.

    2002-01-01

    The aims of this study were to assess genetic variances, trends and mode of inheritance for hip and elbow dysplasia in Finnish dog populations. The influence of time-dependent fixed effects in the model when estimating the genetic trends was also studied. Official hip and elbow dysplasia screening r

  17. A child with autoimmune polyendocrinopathy candidiasis and ectodermal dysplasia treated with immunosuppression: a case report

    OpenAIRE

    O'Gorman, Clodagh S; Shulman, Rayzel M; Lara-Corrales, Irene; POPE, ELENA; Marcon, Margaret; Grasemann, Hartmut; Schneider, Rayfel; Upton, Julia; Sochett, Etienne B.; Kolfin, Dror; Cohen, Eyal

    2013-01-01

    Introduction: Common features of autoimmune polyendocrinopathy-candidiasis-ectodermal dysplasia include candidiasis, hypoparathyroidism and hypoadrenalism. The initial manifestation of autoimmune polyendocrinopathy-candidiasis-ectodermal dysplasia may be autoimmune hepatitis, keratoconjunctivitis, frequent fever with or without a rash, chronic diarrhea, or different combinations of these with or without oral candidiasis. Case presentation: We discuss a profoundly affected 2.9-y...

  18. Influence of hip dysplasia on the development of osteoarthritis of the hip

    NARCIS (Netherlands)

    A.M. Lievense (Annet); S.M. Bierma-Zeinstra (Sita); A.P. Verhagen (Arianne); J.A.N. Verhaar (Jan); B.W. Koes (Bart)

    2004-01-01

    textabstractBACKGROUND: It has been suggested that in some patients with primary hip osteoarthritis (OA), the disease occurs as a consequence of acetabular dysplasia or hip dysplasia (HD). OBJECTIVE: To carry out a systematic review to investigate the association between acetabular

  19. Ectrodactyly-ectodermal dysplasia-clefting syndrome (EEC): report of a case with perioral papillomatosis

    OpenAIRE

    Fernandes, B.; Ruas, E; MacHado, A; Figueiredo, A

    2002-01-01

    We report a 13-year-old boy with ectodermal dysplasia, ectrodactyly, and syndactyly, hypospadias, photophobia, conductive hearing loss, and perioral papillomatosis. His father had ectrodactyly and hypotrichosis. The clinical picture suggested ectrodactyly-ectodermal dysplasia-clefting (EEC) syndrome. The presence of perioral papillomatosis, classically seen in Goltz syndrome, has been reported only once before in EEC syndrome.

  20. Walking pattern in adults with congenital hip dysplasia: 14 women examined by inverse dynamics

    DEFF Research Database (Denmark)

    Pedersen, Eva Natalia G.; Simonsen, Erik B; Alkjaer, T;

    2004-01-01

    Knowledge of the gait dynamics in patients with hip dysplasia may help to understand the consequences of the mechanical changes in the hip.......Knowledge of the gait dynamics in patients with hip dysplasia may help to understand the consequences of the mechanical changes in the hip....

  1. Multiple epiphyseal dysplasia complicated by severe osteochondritis dissecans of the knee. Incidence in two families

    Energy Technology Data Exchange (ETDEWEB)

    Versteylen, R.J.; Zwemmer, A.; Lorie, C.A.M.; Schuur, K.H.

    1988-09-01

    Two families are described which appear to contain examples of multiple epiphyseal dysplasia. In both families a striking incidence of severe osteochondritis of the knees was encountered. It is suggested that this was caused by the fragmented and maldeveloped epiphyses characteristic of epiphyseal dysplasia.

  2. Novel and recurrent TRPV4 mutations and their association with distinct phenotypes within the TRPV4 dysplasia family

    NARCIS (Netherlands)

    J. Dai; O.H. Kim; T.J. Cho; M. Schmidt-Rimpler; H. Tonoki; K. Takikawa; N. Haga; K. Miyoshi; H. Kitoh; W.J. Yoo; I.H. Choi; H.R. Song; D.K. Jin; H.T. Kim; H. Kamasaki; P. Bianchi; G. Grigelioniene; S. Nampoothiri; M. Minagawa; S.I. Miyagawa; T. Fukao; C. Marcelis; M.C.E. Jansweijer; R.C.M. Hennekam; F. Bedeschi; A. Mustonen; Q. Jiang; H. Ohashi; T. Furuichi; S. Unger; B. Zabel; E. Lausch; A. Superti-Furga; G. Nishimura; S. Ikegawa

    2010-01-01

    Background Mutations in TRPV4, a gene that encodes a Ca2+ permeable non-selective cation channel, have recently been found in a spectrum of skeletal dysplasias that includes brachyolmia, spondylometaphyseal dysplasia, Kozlowski type (SMDK) and metatropic dysplasia (MD). Only a total of seven missens

  3. [Characteristics of temporary organization of the bronchopulmonary pattern in healthy persons and in patients with bronchial asthma].

    Science.gov (United States)

    Alekseev, M Iu; Gorbenko, P P; Dubinskaia, A V; Savich, A A; Sysuev, V M

    1989-01-01

    It has been shown by periodographic computer analysis that ultradian rhythms of all examined parameters (bronchial resistance, inhalation, exhalation and breathing cycle duration, inspiration activity index, pneumographic amplitude, inhalation rate) of bronchopulmonary pattern in asthmatics and normal subjects exhibit latent periodicity, with prevailing oscillations of about 60 sec. during spontaneous breathing or under exposures. changing bronchial potency. Slow-wave components form very complex poly-harmonical temporal structure with specific organization during air breathing and response to challenge tests. Bronchospasm provoked by inhalation of acetylcholine produced an abrupt decrease of the number of periodical ultradian components (or even total disappearance of oscillations) and the development of a rigid hypersynchronic temporal structure on the basis of the hypersynchronized ultradien fluctiations. The principal factors of this new system may be changes of airway resistance. Analysis of our data suggests that the phenomenon of bronchial hyper-reactivity may be associated with a disturbance in temporal organization of the cardiobronchopulmonary pattern. Development of temporal disorganization may have some pathogenetic stages such as hypersynchronization, disrhythmy, appearance of a rigid temporal structure and bronchospasm as a clinical result. PMID:2711745

  4. Allergic bronchopulmonary aspergillosis in Italian cystic fibrosis patients: Prevalence and percentage of positive tests in the employed diagnostic criteria

    International Nuclear Information System (INIS)

    The prevalence of allergic bronchopulmonary aspergillosis (ABPA) in cystic fibrosis (CF) patients is difficult to determine because the data in the literature are not homogeneous or comparable. ABPA and CF have similar clinical symptoms which make diagnosis difficult and underestimate the real dimensions of the problem. We conducted an epidemiological study on 3089 Italian CF patients to determine the prevalence of ABPA in Italy and verify the percentage of positive tests in the employed diagnostic criteria. Our results indicate that the prevalence of ABPA in Italian CF patients is 6.18%, mainly in adolescents and young adults. ABPA is diagnosed using clinical symptoms (presence of episodic bronchial obstructions or typical radiographic features) and on the basis of other criteria which can only be partially fulfilled in paediatric patients. Among the diagnostic tests the most sensitive are the total IgE (84.5%), specific IgE anti-Aspergillus fumigatus (81.6%) and the prick test (68.3%). In the absence of clinical symptoms and gold standard diagnostic tests, serological positivity and/or the skin test are not sufficient evidence to confirm the presence of ABPA

  5. Acute toxicity of polyethylene glycol p-isooctylphenol ether in Syrian hamsters exposed by inhalation or bronchopulmonary lavage

    Energy Technology Data Exchange (ETDEWEB)

    Damon, E.G. (Inhalation Toxicology Research Inst., Albuquerque, NM); Halliwell, W.H.; Henderson, T.R.; Mokler, B.V.; Jones, R.K.

    1982-01-01

    Dose-response studies were conducted with Syrian hamsters exposed to polyethylene glycol p-isooctylphenyl ether (Triton X-100) via inhalation or bronchopulmonary lavage. Syrian hamsters were exposed to an aerosol of Triton X-100 with a mass median aerodynamic diameter of 1.5 ..mu..m and a concentration of 3.0 mg/liter. Estimated initial lung burdens of Triton X-100 ranged from 800 to 3100 ..mu..g. Hamsters were lavaged with concentrations of Triton X-100 ranging from 0.01 to 0.10% in isotonic saline resulting in initial lung burdens of Triton X-100 that ranged from 300 to 3200 ..mu..g. The LD50/7 values were 1700 ..mu..g (1300 to 2100 ..mu..g, 95% confidence limits) for the inhalation study and 2100 (1900 to 2700) ..mu..g for the lavage study. The difference between the LD50/7 values for the two methods of exposure was not significant. However, histopathological examination revealed differences in the nature and distribution of pathologic changes observed in animals exposed by the two routes of administration. Animals exposed by inhalation died as a result of ulcerative laryngitis and laryngeal edema with only minimal pulmonary pathologic alterations. Animals exposed by lavage, where the larynx was not exposed to Triton X-100, died from pulmonary edema and acute exudative pneumonia. These results demonstrate the need for careful selection of exposure methods to meet the specific objectives of a toxicology study.

  6. Secondary influences and ectopic causes of canine hip dysplasia. Critical constructive thoughts to hip dysplasia diagnostics and to current breeding strategies

    International Nuclear Information System (INIS)

    This article questions the stagnation of breeding results by hip dysplasia screening and its current etiology. The ''Coxa Valga Antetorta'', anteversion of the hip joint and ''soft tissue displasia'' are discussed besides a multitude of primary diseases leading to growth deformities and other diseases in the hip. Ectopic primary causes like malformation of the spine leading to a secondary ''dysplatic'' osteoarthritis of the hip (functional secondary dysplasia) are also discussed in this article. Recent and very promising breeding strategies (estimation of the breeding value) in the battle against hip dysplasia are presented. Biochemical, immunological and structural aspects are presented as a not totally utopic perspecitive. Molecular genetic markers for hip dysplasia will offer in the near future a possibility to detect carriers ct the disease by a blood sample ion before clinical manifestation

  7. Lumbar gibbus in storage diseases and bone dysplasias

    International Nuclear Information System (INIS)

    Objective. The objective of this study was to review the problem of lumbar gibbus in children with storage diseases and bone dysplasias utilizing plain films and MR imaging. Materials and methods. Clinical histories and radiographic images in five patients with storage diseases [four mucopolysaccharidosis (MPS) and one mucolipidosis[ and two with achondroplasia were reviewed. The International Skeletal Dysplasia Registry (Los Angeles, Calif.), surveyed for all patients with lumbar gibbus and skeletal dysplasias, provided 12 additional cases. Results. All patients had localized gibbus of the upper lumbar spine, characterized by anterior wedging and posterior displacement of the vertebrae at the apex of the curve, producing a beaked appearance. The curve, exaggerated in the sitting or standing position, was most severe in the two patients with MPS-IV (one of whom died). Both developed severe neurologic signs and symptoms requiring surgical intervention. In four patients, MR images demonstrated the apex of the curve to be at or below the conus. Two patients demonstrated anterior herniation of the intervertebral discs at the apex of the curve, though the signal intensity of the intervertebral discs was normal. Conclusion. Lumbar gibbus has important neurologic and orthopedic implications, and is most severe in patients with MPS. The etiology of the gibbus with vertebral beaking is multifactorial and includes poor truncal muscle tone, weight-bearing forces, growth disturbance and anterior disc herniation. The curve is generally at or below the conus. Neurologic complications are unusual, although orthopedic problems can arise. Due to their longer survival, patients with achondroplasia or Morquio's disease are more vulnerable to eventual gibbus-related musculoskeletal complications. (orig.). With 6 figs., 2 tabs

  8. Diagnostic methods and treatment options for focal cortical dysplasia.

    Science.gov (United States)

    Guerrini, Renzo; Duchowny, Michael; Jayakar, Prasanna; Krsek, Pavel; Kahane, Philippe; Tassi, Laura; Melani, Federico; Polster, Tilman; Andre, Véronique M; Cepeda, Carlos; Krueger, Darcy A; Cross, J Helen; Spreafico, Roberto; Cosottini, Mirco; Gotman, Jean; Chassoux, Francine; Ryvlin, Philippe; Bartolomei, Fabrice; Bernasconi, Andrea; Stefan, Hermann; Miller, Ian; Devaux, Bertrand; Najm, Imad; Giordano, Flavio; Vonck, Kristl; Barba, Carmen; Blumcke, Ingmar

    2015-11-01

    Our inability to adequately treat many patients with refractory epilepsy caused by focal cortical dysplasia (FCD), surgical inaccessibility and failures are significant clinical drawbacks. The targeting of physiologic features of epileptogenesis in FCD and colocalizing functionality has enhanced completeness of surgical resection, the main determinant of outcome. Electroencephalography (EEG)-functional magnetic resonance imaging (fMRI) and magnetoencephalography are helpful in guiding electrode implantation and surgical treatment, and high-frequency oscillations help defining the extent of the epileptogenic dysplasia. Ultra high-field MRI has a role in understanding the laminar organization of the cortex, and fluorodeoxyglucose-positron emission tomography (FDG-PET) is highly sensitive for detecting FCD in MRI-negative cases. Multimodal imaging is clinically valuable, either by improving the rate of postoperative seizure freedom or by reducing postoperative deficits. However, there is no level 1 evidence that it improves outcomes. Proof for a specific effect of antiepileptic drugs (AEDs) in FCD is lacking. Pathogenic mutations recently described in mammalian target of rapamycin (mTOR) genes in FCD have yielded important insights into novel treatment options with mTOR inhibitors, which might represent an example of personalized treatment of epilepsy based on the known mechanisms of disease. The ketogenic diet (KD) has been demonstrated to be particularly effective in children with epilepsy caused by structural abnormalities, especially FCD. It attenuates epigenetic chromatin modifications, a master regulator for gene expression and functional adaptation of the cell, thereby modifying disease progression. This could imply lasting benefit of dietary manipulation. Neurostimulation techniques have produced variable clinical outcomes in FCD. In widespread dysplasias, vagus nerve stimulation (VNS) has achieved responder rates >50%; however, the efficacy of noninvasive

  9. Lumbar gibbus in storage diseases and bone dysplasias

    Energy Technology Data Exchange (ETDEWEB)

    Levin, T.L. [Department of Radiology, Division of Pediatric Radiology, Columbia-Presbyterian Medical Center, Babies and Children`s Hospital of New York, NY (United States); Berdon, W.E. [Department of Radiology, Division of Pediatric Radiology, Columbia-Presbyterian Medical Center, Babies and Children`s Hospital of New York, NY (United States); Lachman, R.S. [International Skeletal Dysplasia Registry, Los Angeles, CA (United States); Anyane-Yeboa, K. [Department of Pediatrics, Columbia-Presbyterian Medical Center, Babies and Children`s Hospital of New York, NY (United States); Ruzal-Shapiro, C. [Department of Radiology, Division of Pediatric Radiology, Columbia-Presbyterian Medical Center, Babies and Children`s Hospital of New York, NY (United States); Roye, D.P. Jr. [Department of Orthopedic Surgery, Columbia-Presbyterian Medical Center, Babies and Children`s Hospital of New York, NY (United States)

    1997-04-01

    Objective. The objective of this study was to review the problem of lumbar gibbus in children with storage diseases and bone dysplasias utilizing plain films and MR imaging. Materials and methods. Clinical histories and radiographic images in five patients with storage diseases [four mucopolysaccharidosis (MPS) and one mucolipidosis] and two with achondroplasia were reviewed. The International Skeletal Dysplasia Registry (Los Angeles, Calif.), surveyed for all patients with lumbar gibbus and skeletal dysplasias, provided 12 additional cases. Results. All patients had localized gibbus of the upper lumbar spine, characterized by anterior wedging and posterior displacement of the vertebrae at the apex of the curve, producing a beaked appearance. The curve, exaggerated in the sitting or standing position, was most severe in the two patients with MPS-IV (one of whom died). Both developed severe neurologic signs and symptoms requiring surgical intervention. In four patients, MR images demonstrated the apex of the curve to be at or below the conus. Two patients demonstrated anterior herniation of the intervertebral discs at the apex of the curve, though the signal intensity of the intervertebral discs was normal. Conclusion. Lumbar gibbus has important neurologic and orthopedic implications, and is most severe in patients with MPS. The etiology of the gibbus with vertebral beaking is multifactorial and includes poor truncal muscle tone, weight-bearing forces, growth disturbance and anterior disc herniation. The curve is generally at or below the conus. Neurologic complications are unusual, although orthopedic problems can arise. Due to their longer survival, patients with achondroplasia or Morquio`s disease are more vulnerable to eventual gibbus-related musculoskeletal complications. (orig.). With 6 figs., 2 tabs.

  10. MR imaging findings of acetabular dysplasia in adults

    Energy Technology Data Exchange (ETDEWEB)

    James, Steven; Connell, David [The Royal National Orthopaedic Hospital, Radiology Department, London, Middlesex (United Kingdom); Miocevic, Miranda; Malara, Frank; Pike, Jonathan [Victoria House Hospital, Radiology Department, Melbourne (Australia); Young, David [Melbourne Orthopaedic Group, Orthopaedic Surgery, Melbourne (Australia)

    2006-06-15

    To evaluate the diagnostic accuracy of MR imaging in the identification of labral and articular cartilage lesions in patients with acetabular dysplasia. Pre-operative MR imaging was performed on 27 hips in 25 consecutive patients (16 males, 9 females, age range 19-52 years, mean age 31.2 years) with radiographic evidence of acetabular dysplasia (centre-edge angle of Wiberg <20 degrees). The average duration of symptoms was 16.2 months. Two musculoskeletal radiologists assessed MR images in consensus for the presence of abnormality involving the acetabular labrum and adjacent acetabular articular cartilage. A high resolution, non-arthrographic technique was used to assess the labrum and labral chondral transitional zone. Surgical correlation was obtained in all cases by a single surgeon experienced in hip arthroscopy and ten patients with normal hip MRI were included to provide a control group. The acetabular labra in the dysplastic hips demonstrated abnormal signal intensity, and had an elongated appearance when compared with the control group (mean length 10.9 mm vs 6.4 mm). Morphological appearances in the labra included surface irregularity, fissures and cleft formation. MR imaging correctly identified the severity of chondral abnormality in 24 of 27 hips (89%) when compared with arthroscopic findings. MR imaging demonstrates an elongated labrum, focal intra-substance signal change and irregularity and fissuring of the margins in patients with acetabular dysplasia. Abnormality is also identified at the labral chondral transitional zone, where fissuring, focal clefts, chondral deficiency and subchondral cyst formation may be apparent. A high-resolution, non-arthrographic technique can provide an accurate preoperative assessment and evaluate the presence of premature osteoarthritis. (orig.)

  11. Three Cases of Spondyloepiphyseal Dysplasia Tarda in One Korean Family.

    Science.gov (United States)

    Chung, Sang Wan; Kang, Eun Ha; Lee, Yun Jong; Ha, You Jung; Song, Yeong Wook

    2016-09-01

    Spondyloepiphyseal dysplasia (SED) tarda is an inherited skeletal arthropathy. Because SED tarda involves the joints and resemble the clinical findings of chronic arthropathies, this disease is frequently misdiagnosed as juvenile idiopathic arthritis (JIA). We report here on three patients (father and his two daughters) in one family with SED tarda. All patients had back pain and polyarthralgia. Their radiographs revealed typical changes for SED tarda including platyspondyly and dysplastic bone changes. This rare disease has major clinical importance in that it is similar with JIA or rheumatoid arthritis. PMID:27401665

  12. Drug-resistant epilepsy associated with cortical dysplasias

    Directory of Open Access Journals (Sweden)

    I. E. Poverennova

    2013-12-01

    Full Text Available Epilepsy associated with malformations of the cerebral cortex is reported in the literature to account for up to 25% of the total cases of symptomatic epilepsies. It is characterized by the most severe course and often induces drug-resistance in seizures. A group of patients with resistant seizures is singled out among the total number of patients with symptomatic epilepsy caused by cerebral cortical dysgenesis. The most important risk factors for resistance are identified in dysplasias. The prognostically unfavorable clinical features of epilepsy are described. A diagnostic algorithm is proposed to identify risk groups and to prevent drug-resistant forms of epilepsy.

  13. Hip dysplasia in the cat: a report of three cases

    International Nuclear Information System (INIS)

    Hip dysplasia was diagnosed in three cats. Two were presented with a history of hindlimb lameness and the other had a history of constipation. All were confined for two weeks and showed considerable clinical improvement. At follow-up examination the cats were free of clinical signs despite the deterioration in the radiological appearance of their hips. Luxation or subluxation of the hips, insufficient development of the craniolateral acetabular edges, loss of the arched shape of the cranial subchondral acetabular bones, shallow acetabula and secondary degenerative changes on the femoral heads and necks were the main radiological findings in the affected cats

  14. Hereditary dentine disorders: dentinogenesis imperfecta and dentine dysplasia

    OpenAIRE

    MacKie Iain; McDonnell Sinead T; Barron Martin J; Dixon Michael J

    2008-01-01

    Abstract The hereditary dentine disorders, dentinogenesis imperfecta (DGI) and dentine dysplasia (DD), comprise a group of autosomal dominant genetic conditions characterised by abnormal dentine structure affecting either the primary or both the primary and secondary dentitions. DGI is reported to have an incidence of 1 in 6,000 to 1 in 8,000, whereas that of DD type 1 is 1 in 100,000. Clinically, the teeth are discoloured and show structural defects such as bulbous crowns and small pulp cham...

  15. MONOSTOTIC FIBROUS DYSPLASIA PRESENTING IN MAXILLA:A CASE REPORT

    Directory of Open Access Journals (Sweden)

    Taha Emre KÖSE

    2016-04-01

    Full Text Available Fibrous dysplasia (FD is a bone disorder in which fibrous tissue replaces normal bone. FD can be monostotic (10%–25% or polyostotic (50–90% and is typically diagnosed accidentally on radiographs. Craniofacial lesions are typically unilateral and are diagnosed by clinical assessment and radiographic evaluation. This report describes the case of a 50-yearold female patient who had presented with painless swelling of the right maxilla and was diagnosed with FD. Subsequent bone scintigraphy identified the lesion as monostotic. Based on the patient’s age and the radiographic data, contour correction was performed. However, 1 year after surgery, the lesion regrew and the treatment was repeated.

  16. Arrhythmogenic right ventricular cardiomyopathy/dysplasia: an updated imaging approach.

    Science.gov (United States)

    Zimmerman, Stefan L

    2015-02-01

    Arrhythmogenic right ventricular cardiomyopathy/dysplasia (ARVC/D) is a rare inherited cardiomyopathy characterized by fibrofatty replacement of the right ventricular myocardium and risk of sudden death from ventricular tachyarrhythmias. Cardiac magnetic resonance (MR) imaging plays an important role in the diagnostic evaluation of patients and family members suspected of having ARVC/D. This article discusses the epidemiology and pathophysiology of ARVC/D, reviews typical MR imaging findings and diagnostic criteria, and summarizes potential pitfalls in the MR imaging evaluation of patients suspected of having ARVC/D.

  17. Congenital Osteofibrous dysplasia, Involving the tibia of a neonate

    Energy Technology Data Exchange (ETDEWEB)

    Kim, Sang Yoon; Lee, Sang Hoon [Dept. of Radiology and Research Institute of Radiology, University of Ulsan College of Medicine, Asan Medical Center, Seoul (Korea, Republic of)

    2015-11-15

    Osteofibrous dysplasia (OFD) is a benign fibro-osseous lesion found in long bones, and congenital OFD in neonates is very rare. The diagnosis of OFD in neonates is difficult, and it is sometimes misidentified as any of a number of other congenital tumors or tumor-like lesions, in which case biopsies are often necessary. After a histological confirmation of OFD, non-surgical or delayed surgical treatment is generally recommended. We present image findings from the radiographs and magnetic resonance images in the case of a 7-day-old female infant with pathologically confirmed congenital OFD.

  18. [DNA in koilocytotic dysplasia of the cervix uteri, cytophotometric studies].

    Science.gov (United States)

    Christov, K; Karageosov, I; Makaveeva, V; Kristeva, K

    1987-01-01

    In koilocytotic dysplasia of the uterine cervix the DNA content in squamous cells was quantitated by cytophotometry in histological preparations stained according to Feulgen. Three patterns of DNA distribution in the squamous cells were found. In type one (21.4%) the cells had DNA content in the diploid and paradiploid zone of the histogram. In type two (35.7%) cells with triploid and tetraploid DNA values were found, but with a conspicuous modal class of cells. In type three no modal class cells were found (42.9%). The quantitative DNA changes in squamous cells show that some of the HPV induced alterations may be regarded as precancerous.

  19. Bilateral renal infarction: an uncommon presentation of fibromuscular dysplasia.

    Science.gov (United States)

    Ayach, Taha; Kazory, Amir

    2013-12-01

    While fibromuscular dysplasia (FMD) is an established cause of secondary hypertension, its association with renal infarction is less well recognized. We report a middle-aged man who presented with complaints of loin pain and severe hypertension. Computed tomography angiography of the abdomen revealed bilateral renal infarction with multiple short-segment arterial dissection compatible with FMD in the absence of systemic vasculitis and other risk factors for thromboembolic events. Bilateral renal infarction complicating FMD is extremely rare and has so far been reported only in a handful of cases. Physicians encountering cases of otherwise unexplained renal infarction/ischemia need to be aware of this complication.

  20. Ectodermal dysplasias: a new clinical-genetic classification

    OpenAIRE

    Priolo, M; Lagana, C.

    2001-01-01

    The ectodermal dysplasias (EDs) are a large and complex nosological group of diseases, first described by Thurnam in 1848. In the last 10 years more than 170 different pathological clinical conditions have been recognised and defined as EDs, all sharing in common anomalies of the hair, teeth, nails, and sweat glands. Many are associated with anomalies in other organs and systems and, in some conditions, with mental retardation.
The anomalies affecting the epidermis and epidermal appendages ar...

  1. Conventional Complete Denture in Patients with Ectodermal Dysplasia

    Science.gov (United States)

    Vilanova, Larissa Soares Reis; Sánchez-Ayala, Alfonso; Ribeiro, Giselle Rodrigues; Campos, Camila Heitor; Farias-Neto, Arcelino

    2015-01-01

    Ectodermal dysplasia is described as heritable conditions that involve anomalies of structures derived from the ectoderm, including hypodontia. In the cases of edentulous young patients, who did not finish their craniofacial growth, treatment with conventional complete denture is a suitable alternative. The aim of this study was to report a case of mandibular edentulism treated with conventional complete denture in a thirteen-year-old patient diagnosed with hidrotic ectodermal dysplasia. Typical features, such as frontal bossing, depressed nasal bridge, protuberant lips, scarce hair, and brittle nails, were visualized during the extraoral examination. The intraoral inspection and radiographic analysis revealed oligodontia, dental malformation, and prolonged retention of deciduous teeth at maxilla and total edentulism at mandible. A conventional complete denture was planned and constructed following the same steps of technique as recommended in adults. Although this option is not a definitive treatment, the patient and his parents were satisfied with his improvement in chewing and speech, as well as with the aesthetic benefits. PMID:26425372

  2. Conventional Complete Denture in Patients with Ectodermal Dysplasia

    Directory of Open Access Journals (Sweden)

    Larissa Soares Reis Vilanova

    2015-01-01

    Full Text Available Ectodermal dysplasia is described as heritable conditions that involve anomalies of structures derived from the ectoderm, including hypodontia. In the cases of edentulous young patients, who did not finish their craniofacial growth, treatment with conventional complete denture is a suitable alternative. The aim of this study was to report a case of mandibular edentulism treated with conventional complete denture in a thirteen-year-old patient diagnosed with hidrotic ectodermal dysplasia. Typical features, such as frontal bossing, depressed nasal bridge, protuberant lips, scarce hair, and brittle nails, were visualized during the extraoral examination. The intraoral inspection and radiographic analysis revealed oligodontia, dental malformation, and prolonged retention of deciduous teeth at maxilla and total edentulism at mandible. A conventional complete denture was planned and constructed following the same steps of technique as recommended in adults. Although this option is not a definitive treatment, the patient and his parents were satisfied with his improvement in chewing and speech, as well as with the aesthetic benefits.

  3. Differential genetic regulation of canine hip dysplasia and osteoarthritis.

    Directory of Open Access Journals (Sweden)

    Zhengkui Zhou

    Full Text Available BACKGROUND: Canine hip dysplasia (HD is a common polygenic trait characterized by hip malformation that results in osteoarthritis (OA. The condition in dogs is very similar to developmental dysplasia of the human hip which also leads to OA. METHODOLOGY/PRINCIPAL FINDINGS: A total of 721 dogs, including both an association and linkage population, were genotyped. The association population included 8 pure breeds (Labrador retriever, Greyhounds, German Shepherd, Newfoundland, Golden retriever, Rottweiler, Border Collie and Bernese Mountain Dog. The linkage population included Labrador retrievers, Greyhounds, and their crosses. Of these, 366 dogs were genotyped at ∼22,000 single nucleotide polymorphism (SNP loci and a targeted screen across 8 chromosomes with ∼3,300 SNPs was performed on 551 dogs (196 dogs were common to both sets. A mixed linear model approach was used to perform an association study on this combined association and linkage population. The study identified 4 susceptibility SNPs associated with HD and 2 SNPs associated with hip OA. CONCLUSION/SIGNIFICANCE: The identified SNPs included those near known genes (PTPRD, PARD3B, and COL15A1 reported to be associated with, or expressed in, OA in humans. This suggested that the canine model could provide a unique opportunity to identify genes underlying natural HD and hip OA, which are common and debilitating conditions in both dogs and humans.

  4. Epidemiology of fibromuscular dysplasia: A review of the literature.

    Science.gov (United States)

    Shivapour, Daniel M; Erwin, Phillip; Kim, Esther Sh

    2016-08-01

    Fibromuscular dysplasia (FMD) is a non-atherosclerotic, non-inflammatory disease of medium sized arteries that has been described in multiple anatomic territories with a wide variety of manifestations (e.g. beading, stenosis, occlusion, aneurysm, or dissection). While the first case of FMD is thought to have been described over 75 years ago, the causes, natural history, and epidemiology of FMD in the general population remain incompletely understood. This article reviews important historical and contemporary contributions to the FMD literature that inform our current understanding of the prevalence and epidemiology of this important disorder. A particular focus is given to studies which form the basis for FMD prevalence estimates. Prevalence estimates for renal FMD are derived from renal transplant donor studies and sub-studies of clinical trials of renal artery stenting; however, it is unclear how well these estimates generalize to the overall population as a whole. Newer data are emerging examining the genetic associations and environmental interactions with FMD. Significant contributions to the understanding of FMD have come from the United States Registry for Fibromuscular Dysplasia; however, many unanswered questions remain, and future studies are required to further characterize FMD epidemiology in general populations and advance our understanding of this important disorder. PMID:27067138

  5. Histochemical Analysis of Renal Dysplasia with Ureteral Atresia

    International Nuclear Information System (INIS)

    Unilateral small kidney with ureteral obstruction was discovered in a 74-year-old female cadaver during an anatomical dissection course. In order to elucidate the histogenesis of renal dysplasia, we carried out histochemical and immunohistochemical analyses. On macroscopic view, the kidney was approximately 3 cm in length, 2 cm in width and weighed only 9 g. Although the ureter ran from the renal hilus to the bladder, its width was under 2 mm. The renal parenchyma was extremely thin and there was a large congested vein in the renal sinus. On microscopic examination of the kidney, we observed that numerous developing renal tubules had cytokeratin-positive epithelia, most of which were surrounded by concentric fibrosis. However, we could not detect any structures resembling the collecting duct, renal tubules, renal pelvis, or glomeruli. The concentric mesencymal fibrous tissue surrounding the immature renal tubules contained the smooth muscles that were positive for h-caldesmon. Serial sections of the ureter revealed several small and discontinuous lacunae lined by cuboidal and transitional epithelium, which did not constitute a patent lumen through the bladder. This case is a rare case of renal dysplasia with defect in recanalization of the ureteral bud during the early developmental stage

  6. Automated measurement of diagnostic angles for hip dysplasia

    Science.gov (United States)

    de Raedt, Sepp; Mechlenburg, Inger; Stilling, Maiken; Rømer, Lone; Søballe, Kjeld; de Bruijne, Marleen

    2013-03-01

    A fully automatic method for measuring diagnostic angles of hip dysplasia is presented. The method consists of the automatic segmentation of CT images and detection of anatomical landmarks on the femur and acetabulum. The standard angles used in the diagnosis of hip dysplasia are subsequently automatically calculated. Previous work in automating the measuring of angles required the manual segmentation or delineation of the articular joint surface. In the current work automatic segmentation is established using graph-cuts with a cost function based on a sheetness score to detect the sheet-like structure of the bone. Anatomical landmarks are subsequently detected using heuristics based on ray-tracing and the distance to the approximated acetabulur joint surface. Standard diagnositic angles are finally calculated and presented for interpretation. Experiments using 26 patients, showed a good agreement with gold standard manual measurements by an expert radiologist as performed in daily practice. The mean difference for the five angles was between -1:1 and 2:0 degrees with a concordance correlation coefficient between 0:87 and 0:93. The standard deviation varied between 2:3 and 4:1 degrees. These values correspond to values found in evaluating interobserver and intraobserver variation for manual measurements. The method can be used in clinical practice to replace the current manual measurements performed by radiologists. In the future, the method will be integrated into an intraoperative surgical guidance system.

  7. Multiple epiphyseal dysplasia: radiographic abnormalities correlated with genotype

    Energy Technology Data Exchange (ETDEWEB)

    Unger, S.L. [Ahmanson Department of Pediatrics, Steven Spielberg Pediatric Research Center, Los Angeles, CA (United States); Briggs, M.D.; Holden, P. [Wellcome Trust Centre for Cell-Matrix Research, University of Manchester (United Kingdom); Zabel, B. [Children' s Hospital, Univ. of Mainz (Germany); Ala-Kokko, L.; Paassilta, P.; Lohiniva, J. [Dept. of Medical Biochemistry, Univ. of Oulu (Finland); Rimoin, D.L. [Ahmanson Department of Pediatrics, Steven Spielberg Pediatric Research Center, Los Angeles, CA (United States); Department of Pediatrics, UCLA School of Medicine, Los Angeles, CA (United States); Lachman, R.S. [Ahmanson Department of Pediatrics, Steven Spielberg Pediatric Research Center, Los Angeles, CA (United States); Department of Pediatrics, UCLA School of Medicine, Los Angeles, CA (United States); Department of Radiology, UCLA School of Medicine, Los Angeles, CA (United States); Cohn, D.H. [Ahmanson Department of Pediatrics, Steven Spielberg Pediatric Research Center, Los Angeles, CA (United States); Department of Human Genetics, UCLA School of Medicine, Los Angeles, CA (United States)

    2001-01-01

    Multiple epiphyseal dysplasia (MED) is an osteochondrodysplasia characterized clinically by mild short stature and early-onset degenerative joint disease and radiographically by epiphyseal hypoplasia/dysplasia. MED is genetically heterogeneous, with autosomal dominant cases resulting from mutations in at least three genes: the cartilage oligomeric matrix protein (COMP) gene (EDM1) and the COL9A2 (EDM2) and COL9A3 (EDM3) genes of type IX procollagen. We present here a comparison of the radiographic phenotypes of MED patients with type IX collagen gene mutations and those with COMP gene mutations. We reviewed radiographs from two patients with MED produced by COMP mutations, two families with COL9A2 mutations, and one family with a mutation in COL9A3. The data demonstrated that the patients with type IX collagen defects had more severe joint involvement at the knees and relative hip sparing, while the patients with COMP mutations had significant involvement at the capital femoral epiphyses and irregular acetabuli. This pattern of joint involvement was consistent regardless of overall degree of severity of the phenotype. (orig.)

  8. 不同程度支气管肺发育不良新生儿血浆KL-6水平变化%Plasma KL-6 levels of different grade of bronchopulmonary dysplasia in neonates

    Institute of Scientific and Technical Information of China (English)

    潘育林; 叶永灿; 胡国刚

    2016-01-01

    目的 探讨不同程度支气管肺发育不良(BPD)新生儿血浆KL-6水平,分析其对支气管肺发育的影响及机制.方法 选择2012年1月-2015年9月诊治的BPD新生儿117例(观察组),按照其吸入氧浓度(FiO2)分为重度BPD组29例(FiO2≥30%或需机械通气)、中度BPD组(21%<FiO2<30%)38例,轻度BPD组(未用氧)50例;根据新生儿RDS影像学分级标准,Ⅰ~Ⅱ级57例、Ⅲ级39例、Ⅳ级21例.选取无BPD新生儿41例作为对照组.检测观察组治疗前后及对照组新生儿血浆KL-6水平.结果 观察组患儿血浆KL-6为(794.58±42.31)U/mL,高于对照组,差异有统计学意义(P<0.05);观察组患儿出院前血浆KL-6为(108.65±37.29)U/mL,低于治疗前,差异有统计学意义(P<0.05);重度BPD组治疗前和治疗后72h患儿血浆KL-6分别为(1 023.60±49.38)U/mL和(435.29±38.82)U/mL,均高于中度和轻度BPD组患儿,中度BPD组患儿血浆KL-6高于轻度组,差异有统计学意义(P<0.05);Ⅳ级患儿治疗前和治疗后72h血浆KL-6分别为(1 048.31±48.59) U/mL和(467.38±37.95) U/mL,均高于Ⅲ级和Ⅰ~Ⅱ级患儿,Ⅲ级患儿血浆KL-6高于Ⅰ~Ⅱ级患儿,差异有统计学意义(P<0.05);各组患儿出院前血浆KL-6均低于治疗前和治疗后72h,治疗后72h患儿血浆KL-6均低于治疗前,差异有统计学意义(P<0.05).结论 BPD新生儿血浆KL-6水平明显高于非BPD新生儿,且随着吸入氧浓度(FiO2)和BPD分级程度的增加呈上升趋势,治疗后显著降低BPD发生率或减轻BPD分级程度,血浆KL-6可作为不同程度BPD新生儿诊治和预后评估指标.

  9. Avaliação tomográfica pulmonar tardia em prematuros com displasia broncopulmonar e persistência de canal arterial Late pulmonary tomography assessment in premature infants with bronchopulmonary dysplasia submitted to patent ductus arteriosus managemnent

    OpenAIRE

    Lilian Beani; Airton Camacho Moscardini; Antonio Soares Souza; Arthur Soares Souza Jr; Adriana Érica Yamamoto; Ulisses Alexandre Croti; Domingo Marcolino Braile

    2007-01-01

    OBJETIVO: Avaliação tomográfica do parênquima pulmonar de crianças nascidas prematuras de muito baixo peso, com persistência do canal arterial submetidas a tratamento clínico ou cirúrgico e que apresentaram displasia broncopulmonar. MÉTODOS: Entre dezembro de 2006 e janeiro de 2007, 14 crianças foram submetidas à tomografia computadorizada de alta resolução (TCAR), que nasceram prematuras, peso inferior a 1500 gramas, com displasia broncopulmonar (DBP) e persistência do canal arterial (PCA), ...

  10. Neuroendocrine tumors of the bronchopulmonary system (typical and atypical carcinoid tumors): current strategies in diagnosis and treatment. Conclusions of an expert meeting February 2011 in Weimar, Germany.

    Science.gov (United States)

    Hörsch, Dieter; Schmid, Kurt W; Anlauf, Martin; Darwiche, Kaid; Denecke, Tim; Baum, Richard P; Spitzweg, Christine; Grohé, Christian; Presselt, Norbert; Stremmel, Christian; Heigener, David F; Serke, Monika; Kegel, Thomas; Pavel, Marianne; Waller, Cornelius F; Deppermann, Karl-Matthias; Arnold, Rudolf; Huber, Rudolf M; Weber, Matthias M; Hoffmann, Hans

    2014-01-01

    Neuroendocrine tumors (NETs; syn. carcinoid tumors) are highly or moderately differentiated neoplasms. They comprise a large variety of rare and heterogeneous tumors with an estimated incidence of 3-5/100,000/year. They can arise in virtually every internal organ, but mainly occur in the gastroenteropancreatic and bronchopulmonary systems. Around 25% of the NETs are localized in the bronchopulmonary system. Approximately 2% of all lung tumors are NETs. According to the World Health Organization (WHO) classification of lung tumors, bronchopulmonary NETs are subdivided into typical carcinoids (TCs) and atypical carcinoids (ACs). The parameter with the highest impact on NET behavior and prognosis is the histological classification and staging according to the tumor/node/metastasis (TNM) system. The diagnosis of NETs is established by histological examination and the immunohistochemical detection of general neuroendocrine markers, such as chromogranin A (CgA) and synaptophysin. Serum markers and the use of functional imaging techniques are important additive tools to establish the diagnosis of a NET. The only curative option for lung NETs is complete surgical resection. Beyond that, the currently available interdisciplinary therapeutic options are local ablation, biotherapy (somatostatin analogues), or chemotherapy. New therapeutic options such as peptide receptor radionuclide therapy (PRRT) and molecularly targeted therapies achieve promising results and are under further evaluation. This report is a consensus summary of the interdisciplinary symposium 'Neuroendocrine Tumors of the Lung and of the Gastroenteropancreatic System (GEP NET) - Expert Dialogue' held on February 25-26, 2011 in Weimar, Germany. At this conference, a panel of 23 German experts shared their knowledge and exchanged their thoughts about research, diagnosis, and clinical management of NETs, whereby special attention was paid to NETs of the respiratory tract. PMID:24853787

  11. DNA Ploidy and Liver Cell Dysplasia in Liver Biopsies from Patients with Liver Cirrhosis

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    Sayed S El-Sayed

    2004-01-01

    Full Text Available There is controversy among pathologists when assessing the presence or absence of liver cell dysplasia in liver biopsies taken from cirrhotic patients. The objective of the present study was to determine the DNA ploidy pattern of hepatocytes of patients with liver cirrhosis and its relationship to liver cell dysplasia. A total of 48 male patients diagnosed with liver cirrhosis based on clinical, laboratory and histopathological criteria were included in the study. A liver biopsy was taken from each patient; one part of the biopsy was subjected to histopathology, and the other to flow cytometry. The histopathological examination revealed liver cell dysplasia in 60% of patients with liver cirrhosis (62% of them had large cell dysplasia [LCD] and 38% had small cell dysplasia [SCD]. Abnormal DNA content (aneuploidy was found in 81.5% of positive liver cell dysplasia specimens and found only in 11.1% of negative liver cell dysplasia specimens, with a statistically significant difference (P0.05 in comparison with SCD. In conclusion, SCD (similar to LCD is also associated with aneuploidy and elevated DNA index, and may carry the same risk for progression to hepatocellular carcinoma.

  12. Unusual manifestations of craniofacial fibrous dysplasia: clinical, endocrinological and computed tomographic features.

    Science.gov (United States)

    Daly, B D; Chow, C C; Cockram, C S

    1994-01-01

    Clinical, endocrinological and computed tomographic features of three patients with unusual manifestations or complications of craniofacial involvement of fibrous dysplasia are presented. One patient with polyostotic fibrous dysplasia presented in late pregnancy with acute onset of bilateral optic nerve compression and blindness secondary to a rapidly expanding mass of fibrous dysplasia tissue involving the sphenoid, pituitary and optic chiasm regions. A second patient with polyostotic fibrous dysplasia developed thyrotoxicosis and probable gigantism/acromegaly in keeping with a rare form of McCune-Albright syndrome. Extensive bony distortion of the skull and facial bones by fibrous dysplasia made clinical recognition of these complications more difficult. A third patient had monostotic fibrous dysplasia with marked sclerosis of the sphenoid bone on plain radiographs which mimicked appearances of a meningioma and resulted in a negative craniotomy as computed tomography was not yet available at the time of presentation. Each case demonstrated rare complications of craniofacial fibrous dysplasia and highlighted the wide spectrum of appearances in which it may manifest, often resulting in overlap and diagnostic confusion with other disease processes. The value of computed tomography in assessment is emphasized. PMID:8140010

  13. Study of gas exchange in the bronchopulmonary system after inhalation administration of 133Xe in patients with chronic nonspecific pulmonary diseases

    International Nuclear Information System (INIS)

    Results of a comparative study of pulmonary ventilation, perfusion and alveolar gas exchange in 155 patients with chronic nonspecific pulmonary diseases are presented. In view of the shortcomings of conventional radiopulmonography with 133Xe the discrepancy between clinicoroentgenological findings and ventilation indices was 38%, that between the former and perfusion was 20%. It was concluded that a study of gas exchange in the bronchopulmonary system during inhalation administration of 133Xe provided an opportunity for objective diagnosis of a pathological process in the lung parenchyma, to outline a further adequate plan of the patient's examination and to assess the efficacy of his treatment

  14. Questions of the clinical estimation of bronchopulmonary system status of the personnel which will participate in works on transformation 'Shelter object' in radioecologically safe condition

    International Nuclear Information System (INIS)

    The given data indicate that for victims of the ChNPP accident (primarily clean-up workers) presence of bronchological pathology in the form of chronic obstructive pulmonary disease with some special clinical, endoscopes, pathomorphological and immunological features appeared typical. That requires the adequate methodology elaboration of diagnostics and treatment of bronchopulmonary diseases for the given contingent. Thus, the personnel directed on works, connected with transformation 'Shelter Object' (ShO) in radioecologically safe condition should have complex pulmonological maintenance at all stages of medicosanitary support

  15. Osteosclerotic metaphyseal dysplasia: a skeletal dysplasia that may mimic lead poisoning in a child with hypotonia and seizures

    International Nuclear Information System (INIS)

    We report the case of a 23-month-old male with hypotonia, developmental delay, and complex seizures. Radiographs revealed profound sclerosis of the metaphyses and epiphyses of the long and short bones in the extremities, with a unique pattern of distribution. Sclerosis also involved the anterior ribs, iliac crests, talus, and calcaneus. The skull and vertebral bodies appeared unaffected. Blood lead levels were normal. We believe that this constellation of clinical and radiographic abnormalities closely resembles osteosclerotic metaphyseal dysplasia (OMD) due to an autosomal recessive defect. Characteristic skeletal findings were instrumental in determining the diagnosis. OMD is a very rare sclerosing bone disorder, first described in 1993. The syndrome is characterized clinically by developmental delay of a progressive nature, hypotonia, elevated alkaline phosphatase, and late-onset spastic paraplegia. We encountered a young child with these neurologic symptoms who displayed sclerotic metaphyseal changes on hand radiographs obtained to determine the bone age. Lead poisoning, a known cause of metaphyseal sclerosis, was initially suspected. Careful analysis of the metaphyseal bone changes helped to distinguish this bone dysplasia from lead poisoning and other causes of metaphyseal sclerosis. (orig.)

  16. Clinical, radiographic, and histological findings of florid cemento-osseous dysplasia: a case report

    International Nuclear Information System (INIS)

    Cemento-osseous dysplasias are a group of disorders known to originate from periodontal ligament tissue and involve, essentially, the same pathological process. They are usually classified into three main groups: periapical, florid, and focal cemental dysplasias depending on their extent and radiographic appearances. Radiographically, florid cementoosseous dysplasia (FCOD) appears as dense, lobulated masses, often symmetrically located in various regions of the jaws. The best management for the asymptomatic FCOD patient consists of regular recall examinations with prophylaxis. The management of the symptomatic patient is more difficult. A case of FCOD occurring in a 52-year-old edentulous Korean female is reported which is rare with regard to race and sex.

  17. Antenatal diagnosis of Thanatophoric dysplasia: a case report and review of literature

    Directory of Open Access Journals (Sweden)

    Keerthi Kocherla

    2014-06-01

    Full Text Available Thanatophoric dysplasia is the lethal skeletal dysplasia characterized by marked underdevelopment of the skeleton and short-limb dwarfism. Foetus has short neck, narrow thoracic cage and protruberant abdomen. Other anatomical features include a relatively enlarged head with frontal bossing, platyspondyly, telephone handle femurs. Thanatophoric dysplasia is usually diagnosed using second trimester ultrasonography. We report this rare entity from rural India with emphasis on its anatomical features along with review of relevant literature. [Int J Res Med Sci 2014; 2(3.000: 1176-1179

  18. Clinical, radiographic, and histological findings of florid cemento-osseous dysplasia: a case report

    Energy Technology Data Exchange (ETDEWEB)

    Kim, Jeong Hee; Song, Byeong Chul; Kimn, Sun Ho; Park, Yang Soon [Seoul Veterans Hospital, Seoul (Korea, Republic of)

    2011-09-15

    Cemento-osseous dysplasias are a group of disorders known to originate from periodontal ligament tissue and involve, essentially, the same pathological process. They are usually classified into three main groups: periapical, florid, and focal cemental dysplasias depending on their extent and radiographic appearances. Radiographically, florid cementoosseous dysplasia (FCOD) appears as dense, lobulated masses, often symmetrically located in various regions of the jaws. The best management for the asymptomatic FCOD patient consists of regular recall examinations with prophylaxis. The management of the symptomatic patient is more difficult. A case of FCOD occurring in a 52-year-old edentulous Korean female is reported which is rare with regard to race and sex.

  19. Crohn’s Disease and Idiopathic Thrombocytopenic Purpura in a Patient with Ectodermal Dysplasia and Immunodeficiency

    Directory of Open Access Journals (Sweden)

    Farzaneh Motamed

    2006-09-01

    Full Text Available In this case report we will describe a rare association between anhyrotic ectodermal dysplasia (AED and immunodeficiency and autoimmunity [in our case: Idiopathic Thrombocytopenic Purpura (ITP and Crohn disease]. AED is a rare congenital disorder characterized by sparse hair, abnormal teeth and anhidrosis due to lack of eccrine glands. The survey of 87 cases with (AED revealed only one Irritable Bowel Disease (IBD.  AED has only two relevancies with immunodeficiency: (EDA-ID: Ectodermal Dysplasia Anhyrotic with Immunodeficiency and APE-CED (Autoimmune polyendocrinopathy, Candidiasis and Ectodermal Dysplasia that in our case EDA-ID is strongly suspected.

  20. New type of spondylo-metaphyseal dysplasia - Algerian type. Report of five cases

    Energy Technology Data Exchange (ETDEWEB)

    Kozlowski, K.; Bacha, L.; Massen, R.; Ayati, M.; Sator, S.; Brahimi, L.

    1988-04-01

    A new, dominantly inherited, severe form of spondylometaphyseal dysplasia in five members of an Algerian family is reported. Another child, not investigated, was also probably affected. The disease is characterised by a unique clinical and radiological set of features: dwarfism, genu valgum deformity, progressive kypho-scoliosis, wrist deformity, myopia and severe metaphyseal dysplasia, with moderate spinal changes and minimal changes in the hands and feet. In view of the geographical localisation of the disorder and the anatomical distribution we propose the name Algerian type of spondylo-metaphyseal dysplasia.

  1. Ectrodactyly, ectodermal dysplasia, and cleft lip/palate syndrome: A case report of "Incomplete syndrome"

    Directory of Open Access Journals (Sweden)

    P K Shivaprakash

    2012-01-01

    Full Text Available Ectrodactyly, ectodermal dysplasia, and cleft lip/palate (EEC is a rare syndrome having ectrodactyly, ectodermal dysplasia, and cleft lip/palate. So far, very few cases have been reported in literature. However, we report a case of incomplete EEC syndrome having ectrodactyly and cleft lip and palate with absence of signs of ectodermal dysplasia with no other systemic anomalies. Other feature noted is the syndactyly of toes which is reported rarely in this syndrome. A multidisciplinary approach for treatment is needed which is co-ordinated by pedodontist or pediatrician.

  2. Reconstruction of the Acetabulum in Developmental Dysplasia of the Hip in total hip replacement

    OpenAIRE

    Vasileios Sakellariou; Michael Christodoulou; Gregory Sasalos; George Babis

    2014-01-01

    Developmental dysplasia of the hip (DDH) or congenital hip dysplasia (CDH) is the most prevalent developmental childhood hip disorder. It includes a wide spectrum of hip abnormalities ranging from dysplasia to subluxation and complete dislocation of the hip joint. The natural history of neglected DDH in adults is highly variable. The mean age of onset of symptoms is 34.5 years for dysplastic DDH, 32.5 years for low dislocation, 31.2 years for high dislocation with a false acetabulum, and 46.4...

  3. Total arthroplasty in patients with developmental dysplasia of hip fractures: Two case reports

    OpenAIRE

    Çitlak, Atilla; KERİMOĞLU, Servet; BAKİ, Mehmet Emre

    2015-01-01

    Treatment of fractures in patients with developmental dysplasia of hip is not clear. In patients without any pre-existing hip pathology, open or closed reduction and internal fixation is used to treat hip fractures. Total arthroplasty is used as a salvage procedure in hip fractures of young patients. Total arthroplasty serves perfect functional results in elderly patients with developmental dysplasia of hip. We presented two multi-trauma patients with developmental dysplasia of hip, and their...

  4. Immediate Overlay Removable Partial Dentures for a Patient with Ectodermal Dysplasia: A Clinical Report

    Directory of Open Access Journals (Sweden)

    Ramin Negahdari

    2016-01-01

    Full Text Available Ectodermal dysplasia has several characteristic signs and symptoms, including anadontia or hypodontia, conical and hypoplastic teeth, atrophic alveolar ridges, protuberant lips, and hypotrichosis. Definitive treatment options for these patients are several including fixed, removable or implant-supported prostheses. Economic limitations or other priorities can prevent patients from choosing the most desirable treatment. This clinical report describes the prosthetic rehabilitation of a patient with ectodermal dysplasia. The treatment developed an overlay immediate removable partial denture fabricated to reconstruct acceptable occlusal vertical dimension, function and esthetics. A 2-year period of follow up showed the minor chipping of composite layer on the metal substructure. Keywords: Ectodermal dysplasia, mouth rehabilitation

  5. Bilateral femoral head dysplasia and osteochondritis. Multiple epiphyseal dysplasia tarda, spondylo-epiphyseal dysplasia tarda, and bilateral Legg-Perthes disease

    Energy Technology Data Exchange (ETDEWEB)

    Andersen, P.E. Jr.; Schantz, K.; Bollerslev, J.; Justesen, P.

    Multiple epiphyseal dysplasia tarda (MEDT) and spondylo-epiphyseal dysplasisa tarda (SEDT) are genetically transmitted conditions affecting the hips, which may resemble bilateral Legg-Perthes disease (LPD). Misdiagnoses are not uncommon, with serious implications for treatment, prognosis and genetic counseling. An epidemiologic study of MEDT and SEDT in a well-defined population of 453 921 persons in Denmark was performed. A population prevalence of 0.7 per 100 000 inhabitants with SEDT and 4.0 per 100 000 inhabitants with MEDT was found. Distinguishing features between MEDT, SEDT and bilateral LPD based on radiologic findings in the hips, other joints, and spine were ascertained. Bilateral LPD is always asymmetric, exhibits patches of increased density in the epiphyses and often metaphyseal cyst-like changes. No spinal lesion or affection of other joints is present, and the acetabula are normal. In MEDT and SEDT the capital femoral epiphyses are symmetrically flattened, fragmented and uniformly slightly sclerotic. Generalised platyspondyly is a constant finding in SEDT.

  6. Bilateral Second Carpal Row Duplication Associated with Multiple Epiphyseal Dysplasia.

    Science.gov (United States)

    Cladiere-Nassif, Victoire; Delaroche, Caroline; Pottier, Edwige; Feron, Jean-Marc

    2015-11-01

    We report a case of a 75-year-old woman presenting a hitherto undescribed condition of bilateral second carpal row duplication. She was diagnosed in childhood with both Marfan and Ehlers-Danlos syndromes, with no clear evidence and no further medical follow-up. She presented throughout her life with various articular symptoms, which appeared to be compatible with a diagnosis of multiple epiphyseal dysplasia, and underwent several surgical procedures on her knees and hips. Most recently, she was reporting pain at the base of the fifth metacarpal bone of the left hand. X-ray images and computed tomography (CT) were obtained for exploration and showed a total second row duplication in both carpi, with a total number of 18 carpal bones in each wrist. PMID:26649258

  7. Bilaterally symmetric focal cortical dysplasia in a golden retriever dog.

    Science.gov (United States)

    Casey, K M; Bollen, A W; Winger, K M; Vernau, K M; Dickinson, P J; Higgins, R J; Sisó, S

    2014-11-01

    A 10-year-old golden retriever dog was referred with a 24-h history of generalized seizures. Magnetic resonance imaging of the brain found no abnormalities on 3 mm transverse sections and the dog was subsequently humanely destroyed. Microscopically there was bilaterally symmetrical focal disorganization of cortical grey matter within the tips of the right and left suprasylvian gyri of the temporal cortex. The focal abnormal cortical lamination was characterized by loss of pyramidal neurons with abnormal, irregular, angular, remaining neurons occasionally forming clusters, surrounded by fibrillary astrogliosis and microgliosis and vascular proliferation. These histological findings are consistent with focal cortical dysplasia, a cerebral cortical malformation that causes seizures in people, but not reported previously in the dog. PMID:25246180

  8. Overlapping DSPP mutations cause dentin dysplasia and dentinogenesis imperfecta.

    Science.gov (United States)

    McKnight, D A; Simmer, J P; Hart, P S; Hart, T C; Fisher, L W

    2008-12-01

    Dentinogenesis imperfecta (DGI) and dentin dysplasia (DD) are allelic disorders due to mutations in DSPP. Typically, the phenotype breeds true within a family. Recently, two reports showed that 3 different net -1 bp frameshift mutations early in DSPP's repeat domain caused DD, whereas 6 more 3' frameshift mutations were associated with DGI. Here we identify a DD kindred with a novel -1 bp frameshift (c.3141delC) that falls within the portion of the DSPP repeat domain previously associated solely with the DGI phenotype. This new frameshift mutation shows that overlapping DSPP mutations can give rise to either DGI or DD phenotypes. Furthermore, the consistent kindred presentation of the DD or DGI phenotype appears to be dependent on an as-yet-undescribed genetic modifier closely linked to DSPP.

  9. Isolated dentinogenesis imperfecta and dentin dysplasia: revision of the classification.

    Science.gov (United States)

    de La Dure-Molla, Muriel; Philippe Fournier, Benjamin; Berdal, Ariane

    2015-04-01

    Dentinogenesis imperfecta is an autosomal dominant disease characterized by severe hypomineralization of dentin and altered dentin structure. Dentin extra cellular matrix is composed of 90% of collagen type I and 10% of non-collagenous proteins among which dentin sialoprotein (DSP), dentin glycoprotein (DGP) and dentin phosphoprotein (DPP) are crucial in dentinogenesis. These proteins are encoded by a single gene: dentin sialophosphoprotein (DSPP) and undergo several post-translational modifications such as glycosylation and phosphorylation to contribute and to control mineralization. Human mutations of this DSPP gene are responsible for three isolated dentinal diseases classified by Shield in 1973: type II and III dentinogenesis imperfecta and type II dentin dysplasia. Shield classification was based on clinical phenotypes observed in patient. Genetics results show now that these three diseases are a severity variation of the same pathology. So this review aims to revise and to propose a new classification of the isolated forms of DI to simplify diagnosis for practitioners.

  10. Surgical Treatment of Renal Fibromuscular Dysplasia in a Young Child

    Directory of Open Access Journals (Sweden)

    Arjan W. J. Hoksbergen

    2015-01-01

    Full Text Available During a routine checkup in a 10-year-old male with Attention-Deficit Hyperactivity Disorder, blood pressure of 180/120 mmHg was found. Physical examination was completely normal. Ultrasound examination showed poststenotic dilatation of the left renal artery which was confirmed by CT-angiography showing a short, high grade stenosis of the left renal artery. Percutaneous Transluminal Angioplasty of the stenosis was not successful and therefore the stenosis was excised with reimplantation of the renal artery in the aorta. Pathological examination of the excised segment showed media-type Fibromuscular Dysplasia (FMD. Six years after surgery, the kidney is completely normal regarding size and function. There are no signs of restenosis of the left renal artery. Nevertheless, the hypertension remained although less severe and requiring less medication.

  11. Surgical Treatment of Renal Fibromuscular Dysplasia in a Young Child.

    Science.gov (United States)

    Hoksbergen, Arjan W J; Renwarin, Lennaert; Wisselink, Willem

    2015-01-01

    During a routine checkup in a 10-year-old male with Attention-Deficit Hyperactivity Disorder, blood pressure of 180/120 mmHg was found. Physical examination was completely normal. Ultrasound examination showed poststenotic dilatation of the left renal artery which was confirmed by CT-angiography showing a short, high grade stenosis of the left renal artery. Percutaneous Transluminal Angioplasty of the stenosis was not successful and therefore the stenosis was excised with reimplantation of the renal artery in the aorta. Pathological examination of the excised segment showed media-type Fibromuscular Dysplasia (FMD). Six years after surgery, the kidney is completely normal regarding size and function. There are no signs of restenosis of the left renal artery. Nevertheless, the hypertension remained although less severe and requiring less medication. PMID:26078908

  12. Hyperostotic esthesioneuroblasma: Rare variant and fibrous dysplasia mimicker

    Energy Technology Data Exchange (ETDEWEB)

    Ahmed, Manzoor [Neuroradiology Section, Imaging Institute, Cleveland Clinic Foundation, Cleveland (United States); Knott, Phillip Daniel [Director of Facial Plastic and Reconstructive Surgery, Associate Professor of Otolaryngology, UCSF School of Medicine, San Fransisco (United States)

    2014-02-15

    A 65-year-old male presented with a 3-year history of orbital symptoms. An imaging-based diagnosis of fibrous dysplasia involving the skull base was made at another institution. CT showed a diffuse sinonasal mass and ground-glass appearance of the bones of the anterior skull base with bony defects and mucocele formation. MRI demonstrated an accompanying intracranial and orbital rind of soft tissue mass along the hyperostotic bones. FDG-PET showed corresponding intense hypermetabolism. Small cysts were observed at the tumor-brain interface. Biopsy revealed esthesioneuroblastoma with bone infiltration that is compatible with the hyperostotic variant of esthesioneuroblastoma. There are a few cases of hyperostotic esthesioneuroblastoma reported in the literature.

  13. Magnetic resonance findings in arrhythmogenic dysplasia of right ventricle

    International Nuclear Information System (INIS)

    To compare the magnetic resonance (MR) findings in patients with arrhythmogenic dysplasia of right ventricle (ADRV) with the images of right ventricle (RV) presenting normal morphology. Three groups of patients were studied by MR: a) a group of 20 healthy volunteers; b) 22 patients with ADRV diagnosed by other methods; and c) 11 patients presenting right ventricular tachycardia (VT) with no evidence of ADRV. When compared with the other two groups, the patients with ADRV were found to have an enlarged right atrium and RV, one wall of RV abnormally thin, changes in the myocardial signal and significant left ventricular involvement. MR is a noninvasive method that is useful in the assessment of RV dilation, ventricular wall thinning, deformities and sacculations and in the detection of changes in the myocardial MR signal produced by the replacement. It aids in the localization, characterization and quantification of morphological changes in RV. (Author) 36 refs

  14. Segmental Odontomaxillary Dysplasia: Review of the Literature and Case Report

    Directory of Open Access Journals (Sweden)

    Riya M. Kuklani

    2010-01-01

    Full Text Available Segmental Odontomaxillary Dysplasia (SOD is an uncommon, nonhereditary, recently recognized developmental disorder affecting the upper jaw and related dental components. It is a rare condition of uncertain etiology that results in painless unilateral expansion of the posterior dentoalveolar complex, gingival hyperplasia, lack of one or both premolars in the affected area, delayed eruption of adjacent teeth and malformations of the primary molars. Radiographically, the affected bone is thickened and irregular in outline, with coarse trabecular pattern that is vertically oriented resulting in a relatively radiopaque granular appearance. Only a few cases have been reported in the English literature. Considering the rarity of the condition, we report a case of SOD in a pediatric patient who was followed up over a period of over two years. The clinical, radiographic, and histologic features are presented along with a review of the literature.

  15. Reliability of radiographic parameters in adults with hip dysplasia

    Energy Technology Data Exchange (ETDEWEB)

    Terjesen, Terje [Oslo University Hospital, Rikshospitalet, Department of Orthopaedics, Oslo (Norway); Gunderson, Ragnhild B. [Oslo University Hospital, Rikshospitalet, Department of Radiology, Oslo (Norway)

    2012-07-15

    To assess the reliability of radiographic measurements in adults previously treated for developmental dysplasia of the hip (DDH) and to clarify whether these parameters differ according to position of the patient (supine versus standing). Fifty-one patients (41 females and 10 males) with 63 affected hips were included in the study. The mean follow-up period was 45 (44-49) years in the patients who had not undergone total hip replacement (THR). Anteroposterior radiographs of the pelvis were taken with the patient in the supine and in the standing position. Measurements used for residual hip dysplasia were center-edge (CE) angle and migration percentage (MP). The joint space width (JSW) was measured at three or four locations of the upper, weight-bearing part of the joint, and the shortest distance was termed the minimum joint space width (minJSW). One radiologist and one orthopaedic surgeon, each with more than 30 years of experience, independently measured the radiographic parameters. The limits of agreement (LOA) of the CE angle (mean interobserver difference {+-} 2SD) were within the range -8 to 7 . The LOA of the MP were in the range -8 to 8% and of the minJSW -0.6 to 1.1 mm. The mean differences in CE angle between supine and standing radiographs (supine - standing) ranged from -1.1 to 0.0 and the mean differences in MP between supine and standing positions were below 1%. The mean positional differences in minJSW were below 0.1 mm and were not statistically significant. The interobserver variations with regard to CE angle, MP, and minJSW were moderate, indicating that these are reliable measurements in clinical practice. Femoral head coverage and JSW did not significantly differ between supine and weight-bearing positions. (orig.)

  16. Diagnosis, prevention, and management of canine hip dysplasia: a review

    Directory of Open Access Journals (Sweden)

    Schachner ER

    2015-05-01

    Full Text Available Emma R Schachner, Mandi J Lopez Department of Veterinary Clinical Sciences, School of Veterinary Medicine, Louisiana State University, Baton Rouge, LA, USA Abstract: Canine hip dysplasia (CHD is a polygenic and multifactorial developmental disorder characterized by coxofemoral (hip joint laxity, degeneration, and osteoarthritis (OA. Current diagnostic techniques are largely subjective measures of joint conformation performed at different stages of development. Recently, measures on three-dimensional images generated from computed tomography scans predicted the development of OA associated with CHD. Continued refinement of similar imaging methods may improve diagnostic imaging techniques to identify dogs predisposed to degenerative hip joint changes. By current consensus, joint changes consistent with CHD are influenced by genetic predisposition as well as environmental and biomechanical factors; however, despite decades of work, the relative contributions of each to the development and extent of CHD signs remain elusive. Similarly, despite considerable effort to decipher the genetic underpinnings of CHD for selective breeding programs, relevant genetic loci remain equivocal. As such, prevention of CHD within domestic canine populations is marginally successful. Conservative management is often employed to manage signs of CHD, with lifelong maintenance of body mass as one of the most promising methods. Surgical intervention is often employed to prevent joint changes or restore joint function, but there are no gold standards for either goal. To date, all CHD phenotypes are considered as a single entity in spite of recognized differences in expression and response to environmental conditions and treatment. Identification of distinct CHD phenotypes and targeting evidence-based conservative and invasive treatments for each may significantly advance prevention and management of a prevalent, debilitating condition in canine companions. Keywords: canine

  17. Radiological aspects of prenatal-onset cortical hyperostosis [Caffey Dysplasia

    International Nuclear Information System (INIS)

    Objective: Cortical hyperostosis is a bone disease that may, at times, occur with a prenatal onset. This study seeks to present the characteristic patterns of prenatal-onset cortical hyperostosis (PCH) with regard to the radiographic features, and tries to ascertain whether PCH is a separate entity from infantile cortical hyperostosis (ICH), known as classic Caffey Disease. Materials and methods: This retrospective study identified cases with PCH based upon abnormal radiographic and chondro-osseous morphological and clinical findings, as available, from the International Skeletal Dysplasia Registry between 1987 and 2009. Outcomes and clinical information were also identified from medical records. Results: Based upon radiographic results, we found 20 individuals with PCH, of whom 10 neonatally survived, and 10 died. Hyperostosis of the mandible was found in 18/20, and of the skull base in 16/20 cases. Hyperostosis of the ribs was found in 17/20 cases, of the scapulae in 14/20, and of the clavicles in 4/20. Hyperostosis of the ileum was found in 11/20 cases, and of the long bones in all 20/20 cases, of which three cases had fibula sparing. No hyperostosis of the hands, feet, and spine was found. Conclusions: Our results suggest that, based upon clinical features and radiographic expression, ICH and PCH represent two separate entities, and that ICH should continue to be referred to as Caffey Disease and that PCH should be called Caffey Dysplasia. The findings of symmetrical hyperostosis of the mandible, ribs, scapulae, ilea, and long bones in any combination should suggest the diagnosis of PCH.

  18. Thanatophoric dysplasia type 1 with cloverleaf skull in a dichorionic twin.

    Science.gov (United States)

    Salinas-Torres, V M

    2015-01-01

    Here is reported for the first time, a case of thanatophoric dysplasia type 1 with cloverleaf skull in a (Mexican) dichorionic female twin. The patient's main clinical and radiographic findings included severe limb shortening, narrow thorax shape; short ribs, marked platyspondyly, curved short femurs, and a cloverleaf skull. The female twin sib had normal growth parameters and phenotypic appearance. According to the literature, cloverleaf skull in thanatophoric dysplasia type 1 is rare, even more so in dichorionic twins. Moreover, the present observation confirms that thanatophoric dysplasia type 1 patients may show phenotypic heterogeneity related to cloverleaf skull and other congenital anomalies. Therefore, a careful family history along with clinical, radiological, and molecular investigations is suggested, in order to achieve an accurate parental counseling for thanatophoric dysplasia. PMID:26043509

  19. Delayed ossification of the femoral head in dogs with hip dysplasia

    International Nuclear Information System (INIS)

    In humans, delayed ossification of the caput femoris is often seen associated with hip dysplasia in babies. This phenomenon may possibly exist in dogs. In this study, the radiographic appearance of the caput femoris of 13 German shepherd dogs was examined. The dogs underwent pelvic radiography at the age of 14 to 15 days, six weeks, and 12 months. A significant relationship was shown between hip dysplasia and the late appearance of the epiphysis of the caput femoris (P=0–02). At the age of 14 to 15 days it was not possible to see both epiphyses in 54 per cent of the dogs. All of these dogs had hip dysplasia when they were 12 months old. This was in contrast to the six dogs which had both epiphyses visible when they were 14 to 15 days old. At 12 months of age, four of these dogs (67 per cent) did not show any sign of hip dysplasia

  20. Cytobrush and endocervical curettage in the diagnosis of dysplasia and malignancy of the uterine cervix

    DEFF Research Database (Denmark)

    Mogensen, S T; Bak, Martin; Dueholm, M;

    1997-01-01

    The validity of cytobrush and endocervical curettage combined with colposcopically directed biopsies in the diagnosis of cervical dysplasia and malignancy has not been evaluated in randomized trials. We aimed to elucidate the diagnostic validity of the two methods....

  1. Paleopathological Study of Dwarfism-Related Skeletal Dysplasia in a Late Joseon Dynasty (South Korean) Population

    Science.gov (United States)

    Woo, Eun Jin; Lee, Won-Joon; Hu, Kyung-Seok; Hwang, Jae Joon

    2015-01-01

    Skeletal dysplasias related to genetic etiologies have rarely been reported for past populations. This report presents the skeletal characteristics of an individual with dwarfism-related skeletal dysplasia from South Korea. To assess abnormal deformities, morphological features, metric data, and computed tomography scans are analyzed. Differential diagnoses include achondroplasia or hypochondroplasia, chondrodysplasia, multiple epiphyseal dysplasia, thalassemia-related hemolytic anemia, and lysosomal storage disease. The diffused deformities in the upper-limb bones and several coarsened features of the craniofacial bones indicate the most likely diagnosis to have been a certain type of lysosomal storage disease. The skeletal remains of EP-III-4-No.107 from the Eunpyeong site, although incomplete and fragmented, provide important clues to the paleopathological diagnosis of skeletal dysplasias. PMID:26488291

  2. Mucinous cyst exhibiting severe dysplasia in gastric heterotopic pancreas associated withe gastrointestinal stromal tumour

    Institute of Scientific and Technical Information of China (English)

    2007-01-01

    Heterotopic pancreatic tissue within the stomach is rare and dysplasia within heterotopic pancreatic tissue is very rare. We present the first report of a patient with concurrent occurrence of heterotopic pancreas in the stomach with a gastrointestinal stromal tumour.

  3. 7 tesla T2*-weighted MRI as a tool to improve detection of focal cortical dysplasia.

    Science.gov (United States)

    Veersema, Tim J; van Eijsden, Pieter; Gosselaar, Peter H; Hendrikse, Jeroen; Zwanenburg, Jaco J M; Spliet, Wim G M; Aronica, Eleonora; Braun, Kees P J; Ferrier, Cyrille H

    2016-09-01

    Focal cortical dysplasia is one of the most common underlying pathologies in patients who undergo surgery for refractory epilepsy. Absence of a MRI-visible lesion necessitates additional diagnostic tests and is a predictor of poor surgical outcome. We describe a series of six patients with refractory epilepsy due to histopathologically-confirmed focal cortical dysplasia, for whom pre-surgical 7 tesla T2*-weighted MRI was acquired. In four of six patients, T2* sequences showed areas of marked superficial hypointensity, co-localizing with the epileptogenic lesion. 7 tesla T2* hypointensities overlying focal cortical dysplasia may represent leptomeningeal venous vascular abnormalities associated with the underlying dysplastic cortex. Adding T2* sequences to the MRI protocol may aid in the detection of focal cortical dysplasias.

  4. Fibrous dysplasia of the jaws associated with secondary hyperparathyroidism: a case report

    Energy Technology Data Exchange (ETDEWEB)

    Whi, Jung Hyun; Kim, Young Joo; Chun, Kyung Ah; Kim, Ki Tae; Chang, Eun Deok; Kim, Young Ok; Lee, Won [The Catholic University of Korea, Uijongbu (Korea, Republic of)

    2007-06-15

    There have been few reports on fibrous dyplasia associated with secondary hyperparathyroidism. We report a case of a hemodialysis patient with secondary hyperparathyroidism concomitant with fibrous dysplasia of the jaws causing an abnormal deformity.

  5. Skin symptoms in four ectodermal dysplasia syndromes including two case reports of Rapp-Hodgkin-Syndrome.

    Science.gov (United States)

    Knaudt, Björn; Volz, Thomas; Krug, Markus; Burgdorf, Walter; Röcken, Martin; Berneburg, Mark

    2012-01-01

    The skin, hair and nail changes in four distinct ectodermal dysplasia syndromes are compared and reviewed. These syndromes comprise Christ-Siemens-Touraine syndrome; ectrodactyly, ectodermal dysplasia and cleft lip/palate syndrome; ankyloblepharon-ectodermal defects-cleft lip/palate syndrome and Rapp-Hodgkin syndrome. A comprehensive overview of the dermatological signs and symptoms in these syndromes was generated from the database of the Ectodermal Dysplasia Network Germany, the clinical findings in the patients seen in our department and an extensive review of the literature. The findings included abnormalities of skin, sweating, hair and nails. These clinical findings are discussed in relation to the underlying molecular defects known to play a role in these four ectodermal dysplasia syndromes. PMID:22759387

  6. Ectrodactyly, Ectodermal dysplasia, and Cleft Lip-Palate Syndrome; Its Association with Conductive Hearing Loss

    Science.gov (United States)

    Robinson, Geoffrey C.; And Others

    1973-01-01

    Conductive hearing loss associated with the ectrodactyly, ectodermal dysplasia, and cleft lip palate syndrome was reported in one sporadic case and in a pedigree with four cases in three generations. (GW)

  7. Evolution of the term and definition of dysplasia of the hip - a review of the literature.

    Science.gov (United States)

    Musielak, Bartosz; Idzior, Maciej; Jóźwiak, Marek

    2015-10-12

    There is no consensus on the definition of dysplasia of the hip (DH). Past and present concepts used to describe DH do not form a complete view of the pathology. Moreover, some authors still present the disease as congenital, not developmental. This prompted authors to analyze the evolution of the definition of DH. Based on the biomedical databases 500 articles and books in the field of hip dysplasia were found and analyzed. Fifteen definitions of hip dysplasia met inclusion criteria, subsequently were analyzed and presented in chronological order. The analysis revealed that currently there is no single, universal definition of hip dysplasia in the aspect of morphological, clinical, and radiological studies. Despite the widely-used term of DH, it is described imprecisely and in different ways. Therefore, it is necessary to develop a multidisciplinary definition of this pathology covering all aspects of hip disorders considered valid in modern orthopaedics. PMID:26528350

  8. A Genetic Variants Database for Arrhythmogenic Right Ventricular Dysplasia/Cardiomyopathy

    NARCIS (Netherlands)

    van der Zwaag, Paul A.; Jongbloed, Jan D. H.; van den Berg, Maarten P.; van der Smagt, Jasper J.; Jongbloed, Roselie; Bikker, Hennie; Hofstra, Robert M. W.; van Tintelen, J. Peter

    2009-01-01

    Arrhythmogenic right ventricular dysplasia/cardiomyopathy (ARVD/C) is a hereditary cardiomyopathy characterized by fibrofatty replacement of cardiomyocytes, ventricular tachyarrhythmias and sudden death. ARVD/C is mainly caused by mutations in genes encoding desmosomal proteins. However, the pathoge

  9. PITX1 is a reliable biomarker for predicting prognosis in patients with oral epithelial dysplasia

    OpenAIRE

    Nakabayashi,Motoki; Osaki, Mitsuhiko; KODANI, ISAMU; Okada, Futoshi; Ryoke, Kazuo; Oshimura, Mitsuo; Ito, Hisao; Kugoh, Hiroyuki

    2013-01-01

    Paired-like homeodomain 1 (PITX1) genes are essential in human development. In the present study, PITX1 protein expression was evaluated in human normal oral mucosa, oral epithelial dysplasia and oral squamous cell carcinoma (OSCC), with the aim of examining the expression patterns of these critical genes during the multi-stage transformation of oral epithelial dysplasia to OSCC. PITX1 and Ki-67 expression were assessed by immunohistochemistry in 26 individuals with normal oral mucosa, 106 pa...

  10. Increased nuclear ?-catenin expression in oral potentially malignant lesions: A marker of epithelial dysplasia

    OpenAIRE

    Reyes Rojas, Montserrat; Rojas Alcayaga, Gonzalo; Maturana Ramírez, Andrea; Aitken Saavedra, Juan; Rojas, Carolina; Ortega Pinto, Ana Verónica

    2015-01-01

    Background Deregulation of ?-catenin is associated with malignant transformation; however, its relationship with potentially malignant and malignant oral processes is not fully understood. The aim of this study was to determine and compare the nuclear ?-catenin expression in oral dysplasia and oral squamous cell carcinoma (OSCC). Material and Methods Cross sectional study. Immunodetection of ?-catenin was performed on 72 samples, with the following distribution: 21 mild dysplasia, 12 moderate...

  11. Primary vitreoretinal dysplasia resembling Norrie's disease in a female: association with X autosome chromosomal translocation.

    OpenAIRE

    OHBA, N.; Yamashita, T.

    1986-01-01

    A female infant with the typical clinical and histopathological features of vitreoretinal dysplasia is described. She had an apparently balanced reciprocal chromosomal translocation 46XX,t(X;10) with the X chromosome breakpoint being on the short arm. Since the parents' karyotypes were normal, it is most plausible that a de novo chromosomal translocation disrupted the vitreoretinal dysplasia gene itself. The severe clinical symptoms of this heterozygous female patient were explained by non-ra...

  12. Modern conceptions about mechanisms of progression process of hip dysplasia in children (review

    Directory of Open Access Journals (Sweden)

    Sertakova А.V.

    2011-09-01

    Full Text Available In the literature review of modern data concerning mechanisms of formation and progression process of hip dysplasia in children is represented. The questions concerning classification, processes of morphological and functional (biochemical change of osteocartilaginous components of hip in children with connective tissue dysplasia, changes of content of remodeling and skeletal system degradation markers, angiogenesis in the process of progression of pathological changes in joint are taken up

  13. Exclusion of the COL2A1 gene as the mutation site in diastrophic dysplasia.

    OpenAIRE

    Elima, K; Kaitila, I; Mikonoja, L; Elonsalo, U; Peltonen, L.; Vuorio, E

    1989-01-01

    The involvement of the cartilage specific type II collagen gene (COL2A1) was studied in nine patients with diastrophic dysplasia in the Finnish population, where the prevalence of this chondrodystrophy clearly exceeds that reported for other populations. COL2A1 was chosen as the candidate gene based on previous morphological and chemical studies which suggested abnormal structure of type II collagen in diastrophic dysplasia. Southern analysis of the patients' DNA showed no disease related dif...

  14. Hypohidrotic ectodermal dysplasia with ankylosis of temporomandibular joint and cleft palate: A rare presentation

    Directory of Open Access Journals (Sweden)

    Manisha Goyal

    2015-01-01

    Full Text Available The ectodermal dysplasias are a heterogenous group of diseases, which have one or more anomalies of the hair, teeth, nails, and sweat glands. Hypohidrotic ectodermal dysplasia (HED is the most common type and is usually transmitted as an X-linked recessive trait. It is characterized by classical triad of hypotrichosis, anhidrosis/hypohidrosis, and hypodontia/anodontia. Here, we describe an Indian boy affected with HED and rare features including ankylosis of temporomandibular joint and cleft palate.

  15. Advanced diffusion imaging sequences could aid assessing patients with focal cortical dysplasia and epilepsy

    OpenAIRE

    Winston, G P; Micallef, C.; Symms, M.R.; Alexander, D. C.; Duncan, J.S.; Zhang, H.

    2014-01-01

    Summary Malformations of cortical development (MCD), particularly focal cortical dysplasia (FCD), are a common cause of refractory epilepsy but are often invisible on structural imaging. NODDI (neurite orientation dispersion and density imaging) is an advanced diffusion imaging technique that provides additional information on tissue microstructure, including intracellular volume fraction (ICVF), a marker of neurite density. We applied this technique in 5 patients with suspected dysplasia to ...

  16. The British Society of Gastroenterology early gastric cancer/dysplasia survey: an interim report.

    OpenAIRE

    De Dombal, F T; Price, A. B.; Thompson, H; Williams, G. T.; Morgan, A G; Softley, A; Clamp, S E; Unwin, B J

    1990-01-01

    This presentation describes interim findings in a series of 319 patients referred from 41 hospitals on the basis of histopathological findings of 'early gastric cancer', 'dysplasia', or 'worrying mucosal appearances'. Data were recorded using a predefined proforma, and histopathological material circulated amongst a 'panel' of three further pathologists. After this process, 132 patients were classified as having early gastric cancer and 63 as dysplasia. There was good agreement between pathol...

  17. Association of generalized aggressive periodontitis and ectrodactyly-ectodermal dysplasia-cleft syndrome

    OpenAIRE

    Rosamma Joseph; Nath, Sameera G.

    2012-01-01

    Ectrodactyly-ectodermal dysplasia-cleft (EEC) syndrome is an autosomal dominant disorder characterized by the triad of ectrodactyly, ectodermal dysplasia, and facial clefting. Even though literature has documented the association of various genetic disorders with aggressive periodontitis, the periodontal manifestations in patients with EEC syndrome have never been addressed. This case report presents the periodontal status of three patients in a family with EEC syndrome. The presence of gener...

  18. A Case of Ectrodactyly, Ectodermal Dysplasia, Cleft Lip and Palate Syndrome Associated with Hydrocephaly

    OpenAIRE

    Buket Uysal Aladag; Fatma Hilal Yilmaz; Nadir Kocak; Ali Annagur

    2013-01-01

    Ectrodactyly, ectodermal dysplasia, cleft lip, and palate syndrome (EEC) is a genetic developmental disorder characterized by ectrodactyly, ectodermal dysplasia and orofacial clefts (cleft lip/ palate). A few cases have been reported in literature. The cardinal components of the syndrome are ectrodactyly and syndactyly of the hands and feet, cleft lip with or without cleft palate, and abnormalities ectodermal structures including skin (i.e. hypopigmented and dry skin, hyperkeratosis, skin atr...

  19. Case report of imaging analysis of the dysplasia epiphysealis hemimelic (Trevor's disease)

    Energy Technology Data Exchange (ETDEWEB)

    Shu, Jang Ho; Cho, Kil Ho [Dept. of Diagnostic Radiology, College of Medicine, Yeungnam University, Daegu (Korea, Republic of)

    2013-08-15

    Trevor's disease, also known as dysplasia epiphysealis hemimelica, is a rare developmental disorder presented with epiphyseal overgrowth involving one or multiple epiphyses. Here we report the radiologic findings of two cases of dysplasia epiphysealis hemimelica in a 4-year-old boy in the knee without symptom and a 10-year-old boy in the ankle with pain. The former was observed for eight years and the latter was treated with surgical resection.

  20. Genetic alterations and epithelial dysplasia in juvenile polyposis syndrome and sporadic juvenile polyps.

    OpenAIRE

    Wu, T. T.; Rezai, B.; Rashid, A.; Luce, M.C.; Cayouette, M. C.; Kim, C.; Sani, N.; Mishra, L; Moskaluk, C A; Yardley, J. H.; Hamilton, S R

    1997-01-01

    Juvenile polyps are regarded as hamartomatous polyps and occur in sporadic and familial syndromic settings. There is increased risk of gastrointestinal neoplasia in patients with juvenile polyposis syndrome, but the molecular mechanisms are not known. We therefore studied 78 colorectal juvenile polyposis from 12 patients with juvenile polyps syndrome and 34 sporadic juvenile polyps for epithelial dysplasia and genetic changes associated with colorectal neoplasia. Dysplasia occurred in 31% of ...