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Sample records for bronchopulmonary dysplasia

  1. Displasia broncopulmonar Bronchopulmonary dysplasia

    Directory of Open Access Journals (Sweden)

    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. Pulmonary Hemosiderosis in Children with Bronchopulmonary Dysplasia

    OpenAIRE

    David Kurahara; Marina Morie; Maya Yamane; Sarah Lam; Wallace Matthews; Keolamau Yee; Kara Yamamoto

    2014-01-01

    We describe a possible association between pulmonary hemosiderosis (PH) and a history of bronchopulmonary dysplasia (BPD). Both patients were born at 28-week gestation and presented with PH at ages 22 months and 6 years, respectively. Both initially presented with cough and tachypnea, and bronchoalveolar lavage showed evidence of hemosiderin-laden macrophages. Initial hemoglobin levels were < 4 g/dL and chest radiographs showed diffuse infiltrates that cleared dramatically within days after i...

  3. Oxygen Saturation Targeting and Bronchopulmonary Dysplasia.

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    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

  4. 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.

  5. Pulmonary hemosiderosis in children with bronchopulmonary dysplasia.

    Science.gov (United States)

    Kurahara, David; Morie, Marina; Yamane, Maya; Lam, Sarah; Matthews, Wallace; Yee, Keolamau; Yamamoto, Kara

    2014-01-01

    We describe a possible association between pulmonary hemosiderosis (PH) and a history of bronchopulmonary dysplasia (BPD). Both patients were born at 28-week gestation and presented with PH at ages 22 months and 6 years, respectively. Both initially presented with cough and tachypnea, and bronchoalveolar lavage showed evidence of hemosiderin-laden macrophages. Initial hemoglobin levels were pulmonary blood was observed upon initial intubation, prompting the need for high frequency ventilation, immediate corticosteroids, and antibiotics. The mechanical ventilation wean was made possible by the addition of mycophenolate mofetil (MMF) and hydroxychloroquine. Slow tapering off of medications was accomplished over 6 years. These cases represent a possible correlation between prematurity-associated BPD and PH. We present a review of the literature regarding this possible association. In addition, MMF proved to be life-saving in one of the PH cases, as it has been in pulmonary hemorrhage related to systemic lupus erythematosus. Further studies are warranted to investigate the possible association between PH and prematurity-related BPD, as well as the use of MMF in the treatment of PH. PMID:25309768

  6. Pulmonary Hemosiderosis in Children with Bronchopulmonary Dysplasia

    Directory of Open Access Journals (Sweden)

    David Kurahara

    2014-01-01

    Full Text Available We describe a possible association between pulmonary hemosiderosis (PH and a history of bronchopulmonary dysplasia (BPD. Both patients were born at 28-week gestation and presented with PH at ages 22 months and 6 years, respectively. Both initially presented with cough and tachypnea, and bronchoalveolar lavage showed evidence of hemosiderin-laden macrophages. Initial hemoglobin levels were < 4 g/dL and chest radiographs showed diffuse infiltrates that cleared dramatically within days after initiation of intravenous corticosteroids. In the first case, frank pulmonary blood was observed upon initial intubation, prompting the need for high frequency ventilation, immediate corticosteroids, and antibiotics. The mechanical ventilation wean was made possible by the addition of mycophenolate mofetil (MMF and hydroxychloroquine. Slow tapering off of medications was accomplished over 6 years. These cases represent a possible correlation between prematurity-associated BPD and PH. We present a review of the literature regarding this possible association. In addition, MMF proved to be life-saving in one of the PH cases, as it has been in pulmonary hemorrhage related to systemic lupus erythematosus. Further studies are warranted to investigate the possible association between PH and prematurity-related BPD, as well as the use of MMF in the treatment of PH.

  7. 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

  8. Efficacy of azithromycin for prevention of bronchopulmonary dysplasia (BPD)

    OpenAIRE

    Gharehbaghi, Manizheh Mostafa; Peirovifar, Ali; GHOJAZADEH, Mortaza; MAHALLEI, Majid

    2012-01-01

    Bronchopulmonary dysplasia (BPD) remains one of the most serious and challenging complications in premature infants. This study was conducted to evaluate the efficacy of azithromycin in the prevention of BPD in very low birth weight preterm infants Materials and methods: Preterm neonates with birth weight less than 1500 g were enrolled in a prospective randomized controlled clinical trial. One hundred eight neonates were randomly allocated to the intervention group (n = 56) or control group ...

  9. 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...

  10. 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.

  11. Inhaled nitric oxide to prevent bronchopulmonary dysplasia in preterm neonates.

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    Mercier, Jean-Christophe; Olivier, Paul; Loron, Gauthier; Fontaine, Romain; Maury, Laure; Baud, Olivier

    2009-02-01

    Bronchopulmonary dysplasia is a chronic lung disease that affects premature infants and contributes to their morbidity and mortality. With the advent of prenatal steroids and postnatal exogenous surfactant and less aggressive respiratory support, premature infants can develop chronic oxygen dependency without even acute respiratory distress. This 'new bronchopulmonary dysplasia' could be the result of impaired postnatal growth. Several experimental studies have suggested a possible role of the vascular endothelial growth factor/nitric oxide (VEGF/NO) pathway in restoring pulmonary angiogenesis and enhancing distal lung growth. The results of the clinical studies are, however, inconclusive, and it is currently unclear which subsets of premature infants might benefit from inhaled nitric oxide. Besides, severe intracranial haemorrhage and/or cystic periventricular leucomalacia may affect the most immature babies, many of whom are spared from severe initial respiratory disease. Recently, inhaled nitric oxide was shown to significantly decrease the incidence of these neurological events, and to improve the long-term outcome in a few clinical trials. At times neuroprotective, at times neurotoxic, nitric oxide is capable of divergent effects depending upon the extent of cerebral damage, the redox state of the cell, and the experimental model used. Recently, our group found that inhaled nitric oxide had remote effects including angiogenesis and maturation on the developing brain in rodent pups. Thus, we await the results of the recently completed randomised clinical trial of inhaled nitric oxide to prevent bronchopulmonary dysplasia (the European Nitric Oxide or 'EUNO' trial) where, besides the primary endpoint of chronic oxygen dependency reduction at 36 weeks' postconceptional age, long-term lung and brain will be followed-up until 7 years of age. PMID:18986855

  12. 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

  13. 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

  14. 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.

  15. 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...

  16. 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 ...

  17. 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.)

  18. Biomarkers in neonatology: the new "omics" of bronchopulmonary dysplasia.

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    Piersigilli, Fiammetta; Bhandari, Vineet

    2016-06-01

    Bronchopulmonary dysplasia (BPD) is a complex disorder resulting from gene-environmental interactions. An improved understanding of the pathogenesis of this most common chronic lung disease in infants has been made by utilizing animal models and correlating with human data. Currently, while some (vitamin A, caffeine) pharmacotherapeutic options are being utilized to ameliorate this condition, there is still no specific or effective treatment for BPD. It would be helpful for prognostication and targeted potential novel therapeutic strategies to identify those babies accurately who are at risk for developing this disease. A reliable biomarker would have the capacity to be detected in the initial phase of the disease, to allow early interventions to avoid or minimize the detrimental effects of the disease. This review will focus on human studies performed with the "omic" techniques, specifically genomics, epigenomics, microbiomics, transciptomics, proteomics and metabolomics, and summarize the information available in the literature, as it pertains to biomarker identification for BPD. Using "omics" technologies, investigators have reported markers that have the potential to be used as biomarkers of BPD: SPOCK2, VEGF -624C > G, VEGF -460T > C, mast cells specific markers, miR-219 pathway, miR-152, -30a-3p, -133b, -206, -7, lactate, taurine, trimethylamine-N-oxide, gluconate, myoinositol and alterations in surfactant lipid profile. PMID:26135768

  19. Impact of bronchopulmonary dysplasia on brain and retina.

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    Poon, Annie Wing Hoi; Ma, Emilie Xiao Hang; Vadivel, Arul; Jung, Suna; Khoja, Zehra; Stephens, Laurel; Thébaud, Bernard; Wintermark, Pia

    2016-01-01

    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 (Panimal model of chronic neonatal hyperoxia can be used to simultaneously study lung, brain and retinal injuries related to hyperoxia. PMID:26988760

  20. 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.

  1. 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.

  2. 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.

  3. 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.

  4. Imbalance between Cysteine Proteases and Inhibitors in a Baboon Model of Bronchopulmonary Dysplasia

    OpenAIRE

    Altiok, Ozden; Yasumatsu, Ryuji; Bingol-Karakoc, Gulbin; Riese, Richard J.; Stahlman, Mildred T.; Dwyer, William; Pierce, Richard A.; Bromme, Dieter; Weber, Ekkehard; Cataltepe, Sule

    2005-01-01

    Rationale: Bronchopulmonary dysplasia (BPD) continues to be a major morbidity in preterm infants. The lung pathology in BPD is characterized by impaired alveolar and capillary development. An imbalance between proteases and protease inhibitors in association with changes in lung elastic fibers has been implicated in the pathogenesis of BPD.

  5. 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.

  6. 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),...

  7. Pulmonary Vein Stenosis in Neonates with Severe Bronchopulmonary Dysplasia.

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    Swier, Natasha L; Richards, Bernadette; Cua, Clifford L; Lynch, Susan K; Yin, Han; Nelin, Leif D; Smith, Charles V; Backes, Carl H

    2016-06-01

    Objectives Pulmonary vein stenosis (PVS) is a rare, often lethal anomaly associated with poor outcomes. Given the association between bronchopulmonary dysplasia (BPD) and cardiovascular complications, we tested the hypotheses that (1) a subgroup of neonates with severe BPD develop PVS (BPD-PVS) and have worse outcomes than do neonates with severe BPD alone (BPD); (2) among a cohort of neonates with severe BPD-associated pulmonary hypertension (BPD-PH), PVS is an additional risk factor for adverse outcomes and mortality. Study Design We performed a retrospective review of neonates with severe BPD, based on the Eunice Kennedy Shriver National Institute of Child Health and Development (NICHD) criteria, at our institution between June 1, 2009, and June 30, 2013. PVS was determined based on serial review of echocardiograms performed during their hospitalization. Neonates with congenital heart disease or chromosomal anomalies were excluded. Results Of 213 patients with severe BPD, 10 (4.7%) were found to have PVS (BPD-PVS). Neonates with BPD-PVS had lower birth weight (634 ± 178 vs. 767 ± 165 g; p < 0.01) and were more likely to be intrauterine growth restricted (80 vs. 11%; p < 0.01) than neonates with BPD alone. Time on mechanical ventilation and length of hospitalization were longer in the BPD-PVS group than BPD group. Survival was lower in the BPD-PVS group than BPD group (5/10 [50%] vs. 196/203 [97%]; log-rank test p < 0.01). Among a subgroup of neonates with BPD-PH, survival was lower among infants with PVS than those without PVS (5/9 [56%] vs. 26/30 [86%]; log-rank test p = 0.01). Conclusions Compared with neonates with severe BPD alone, those with acquired PVS are at increased risk for worse outcomes, including higher mortality. Evidence-based recommendations regarding screening protocols and surveillance are needed in this high-risk subgroup of BPD neonates. PMID:26862723

  8. Bronchopulmonary dysplasia: understanding of the underlying pathological mechanisms

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    Daniela Fanni

    2014-06-01

    Full Text Available Bronchopulmonary dysplasia (BPD is a chronic lung disease occurring in preterm infants, typically before 28 weeks of gestational age, characterized by a prolonged need for supplemental oxygen or positive pressure ventilation. The normal stages of lung development and their relation to the timing of preterm birth is strategic in order to understand the pathogenesis of BPD. In embryonic and pseudoglandular stages the lungs arise from the anterior foregut as a bud where the branching morphogenesis generate a tree-like network of airways. The canalicular stage is characterized by increasing proliferation of distal lung epithelial cells and rapid expansion of the intra-acinar capillaries. The complexity of the airways increases, secondary crests begin to form and full maturation of the alveolus occurs during the saccular and the alveolar stages. Mesechyme components, expecially elastin and myofibroblast, display a major role in normal lung development. BPD is thought to result after an acute insult to the neonatal lung following therapy with oxygen supplementation and mechanical ventilation. Chorioamnionitis, infections and genetic susceptibly are hypothesized to contribute to the injury that affect the normal human lung development. Abnormalities in the mesenchyme were consistently seen in association with inhibition of alveolarization. The pathological features that characterize BPD are complex and differ according with the disease progression. Alveolar simplification, interstitial fibrosis, septal thickness, large airways, smooth muscle hypertrophy, fetal artery persistance and decrease in the arterial number can be histologically observed. In conclusion, in order to reach a complete clinical-pathological diagnosis, the correlation of the pathological features with the fundamental steps of lung morphogenesis and a strict dialogue between the neonatologist and the perinatal pathologist are required. Given these conditions, in our experience, a

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

    Directory of Open Access Journals (Sweden)

    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

  10. Vasculoprotective effects of heme oxygenase-1 in a murine model of hyperoxia-induced bronchopulmonary dysplasia

    OpenAIRE

    Fernandez-Gonzalez, Angeles; Alex Mitsialis, S.; Liu, Xianlan; Kourembanas, Stella

    2011-01-01

    Bronchopulmonary dysplasia (BPD) is characterized by simplified alveolarization and arrested vascular development of the lung with associated evidence of endothelial dysfunction, inflammation, increased oxidative damage, and iron deposition. Heme oxygenase-1 (HO-1) has been reported to be protective in the pathogenesis of diseases of inflammatory and oxidative etiology. Because HO-1 is involved in the response to oxidative stress produced by hyperoxia and is critical for cellular heme and iro...

  11. Persistently Elevated Right Ventricular Index of Myocardial Performance in Preterm Infants with Incipient Bronchopulmonary Dysplasia

    OpenAIRE

    Czernik, Christoph; Rhode, Stefanie; Metze, Boris; Schmalisch, Gerd; Bührer, Christoph

    2012-01-01

    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 prete...

  12. Continuous positive airway pressure titration in infants with severe upper airway obstruction or bronchopulmonary dysplasia.

    OpenAIRE

    Khirani, Sonia; Ramirez, Adriana; Aloui, Sabrina; Leboulanger, Nicolas; Picard, Arnaud; Fauroux, Brigitte

    2013-01-01

    Abstracta Introduction Noninvasive continuous positive airway pressure (CPAP) is recognized as an effective treatment for severe airway obstruction in young children. The aim of the present study was to compare a clinical setting with a physiological setting of noninvasive CPAP in infants with nocturnal alveolar hypoventilation due to severe upper airway obstruction (UAO) or bronchopulmonary dysplasia (BPD). Methods The breathing pattern and respiratory muscle output of all consecutive infant...

  13. 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...

  14. 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 ...

  15. 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...

  16. 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 ...

  17. 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...

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

    Directory of Open Access Journals (Sweden)

    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.

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

    Directory of Open Access Journals (Sweden)

    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.

  20. Rib enlargement in premature infants with bronchopulmonary dysplasia

    Energy Technology Data Exchange (ETDEWEB)

    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)

  1. 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)

  2. Comparing the Efficacy of High and Low Doses of Vitamin A in Prevention of Bronchopulmonary Dysplasia

    OpenAIRE

    Majid Mahallei; Manizheh Mostafa Gharehbaghi; Leila Majidzadeh; Nazanin Hazhir

    2016-01-01

    Background Bronchopulmonary dysplasia (BPD) is one of the most common serious squeal of preterm infants. It involves approximately one quarter of infants with birth weight less than 1500 grams and 30% of less than 1000 grams. Vitamin A has been shown to reduce BPD rate. We compared efficacy of low and high doses of vitamin A for prevention of BPD in very low birth weight preterm infants. Materials and Methods In a randomized clinical trial, 120 preterm infants with gestation age 32 weeks or l...

  3. 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

  4. Antenatal steroid treatment reduces childhood asthma risk in very low birth weight infants without bronchopulmonary dysplasia

    OpenAIRE

    Hung, Yi-Li; Hsieh, Wu-Shiun; Chou, Hung-Chieh; Yang, Yao-Hsu; Chen, Chien-Yi; Tsao, Po-Nien

    2009-01-01

    Bronchopulmonary dysplasia (BPD) and very low birth weight (VLBW) are associated with increased incidences of asthma and pulmonary dysfunction in childhood. However, no studies exist which examine asthma risk factors in children who were VLBW infants and did not have BPD. To address this issue, we assessed the asthma incidence and risk factors for asthma in 117 children (approximate mean age of 5 years) who were VLBW [<1500 g, mean gestational age (GA): 30 weeks] infants without BPD. The ...

  5. 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

  6. 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

  7. 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.

  8. 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.

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

    Directory of Open Access Journals (Sweden)

    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.

  10. 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.

  11. 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

  12. 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 ...

  13. Comparing the Efficacy of High and Low Doses of Vitamin A in Prevention of Bronchopulmonary Dysplasia

    Directory of Open Access Journals (Sweden)

    Majid Mahallei

    2016-06-01

    Full Text Available Background Bronchopulmonary dysplasia (BPD is one of the most common serious squeal of preterm infants. It involves approximately one quarter of infants with birth weight less than 1500 grams and 30% of less than 1000 grams. Vitamin A has been shown to reduce BPD rate. We compared efficacy of low and high doses of vitamin A for prevention of BPD in very low birth weight preterm infants. Materials and Methods In a randomized clinical trial, 120 preterm infants with gestation age 32 weeks or less and birth weight less than 1,500 grams were enrolled in the study. Group A (n=60 received 1,500 IU vitamin A intramuscularly three times per week and group B (n=60 received 5,000 IU vitamin A intramuscularly 3 times/week. Vitamin A was continued for 4 weeks in all patients. Oxygen dependency at age 28 days after birth and at 36 weeks’ postmenstrual age was determined in all studied infants. Results The mean gestation age and birth weight in group A was 29.2 ± 2.1 weeks and 1095 ± 211 gr and in group B 28.7 ± 2.1week and 1147 ± 218 grams (P>0.05. Moderate to severe bronchopulmonary dysplasia was detected in 6 (10% neonates in group A and 13(21.6% infants in group B, P= 0.09. Mortality rate was 4 (6.6% infants in group A and 3 (5% patients in group B (P>0.05. Conclusion In our study, high and low doses of vitamin A were similar with respect to the BPD, intra-ventricular hemorrhage, and retinopathy of prematurity and total number of days for hospital stay in very low birth weight preterm infants.

  14. 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

  15. Sleep Quality, Stress, Caregiver Burden, and Quality Of Life in Maternal Caregivers of Young Children With Bronchopulmonary Dysplasia

    OpenAIRE

    Feeley, Christine A.; Turner-Henson, Anne; Christian, Becky J.; Avis, Kristin T.; Heaton, Karen; Lozano, David; Su, Xiaogang

    2013-01-01

    Little is known about the influence of sleep quality, stress, and caregiver burden on quality of life in maternal caregivers of young children with bronchopulmonary dysplasia (BPD). In 61 maternal caregivers (mean age 29.59 years) of young children with BPD (mean age 13.93 months), caregivers reported sleeping a mean of 5.8 hours, and significant correlations were found between sleep quality and depressive symptoms and stress, as well as an inverse correlation with quality of life. Sleep qual...

  16. 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...

  17. 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

  18. Vasculoprotective effects of heme oxygenase-1 in a murine model of hyperoxia-induced bronchopulmonary dysplasia.

    Science.gov (United States)

    Fernandez-Gonzalez, Angeles; Alex Mitsialis, S; Liu, Xianlan; Kourembanas, Stella

    2012-04-15

    Bronchopulmonary dysplasia (BPD) is characterized by simplified alveolarization and arrested vascular development of the lung with associated evidence of endothelial dysfunction, inflammation, increased oxidative damage, and iron deposition. Heme oxygenase-1 (HO-1) has been reported to be protective in the pathogenesis of diseases of inflammatory and oxidative etiology. Because HO-1 is involved in the response to oxidative stress produced by hyperoxia and is critical for cellular heme and iron homeostasis, it could play a protective role in BPD. Therefore, we investigated the effect of HO-1 in hyperoxia-induced lung injury using a neonatal transgenic mouse model with constitutive lung-specific HO-1 overexpression. Hyperoxia triggered an increase in pulmonary inflammation, arterial remodeling, and right ventricular hypertrophy that was attenuated by HO-1 overexpression. In addition, hyperoxia led to pulmonary edema, hemosiderosis, and a decrease in blood vessel number, all of which were markedly improved in HO-1 overexpressing mice. The protective vascular response may be mediated at least in part by carbon monoxide, due to its anti-inflammatory, antiproliferative, and antiapoptotic properties. HO-1 overexpression, however, did not prevent alveolar simplification nor altered the levels of ferritin and lactoferrin, proteins involved in iron binding and transport. Thus the protective mechanisms elicited by HO-1 overexpression primarily preserve vascular growth and barrier function through iron-independent, antioxidant, and anti-inflammatory pathways. PMID:22287607

  19. 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.

  20. 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

  1. 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

  2. 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.

  3. 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.

  4. 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.)

  5. 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)

  6. 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.

  7. 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...

  8. 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...

  9. 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

  10. 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

  11. 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.

  12. 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

  13. 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

  14. 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

  15. Bronchopulmonary dysplasia: where have all the vessels gone? Roles of angiogenic growth factors in chronic lung disease.

    Science.gov (United States)

    Thébaud, Bernard; Abman, Steven H

    2007-05-15

    Bronchopulmonary dysplasia and emphysema are significant global health problems at the extreme stages of life. Both are characterized by arrested alveolar development or loss of alveoli, respectively. Both lack effective treatment strategies. Knowledge about the genetic control of branching morphogenesis in mammals derives from investigations of the respiratory system in Drosophila, but mechanisms that regulate alveolar development remain poorly understood. Even less is known about regulation of the growth and development of the pulmonary vasculature. Understanding how alveoli and the underlying capillary network develop, and how these mechanisms are disrupted in disease states, are critical for developing effective therapies for lung diseases characterized by impaired alveolar structure. Recent observations have challenged old notions that the development of the blood vessels in the lung passively follows that of the airways. Rather, increasing evidence suggests that lung blood vessels actively promote alveolar growth during development and contribute to the maintenance of alveolar structures throughout postnatal life. Our working hypothesis is that disruption of angiogenesis impairs alveolarization, and that preservation of vascular growth and endothelial survival promotes growth and sustains the architecture of the distal airspace. Furthermore, the explosion of interest in stem cell biology suggests potential roles for endothelial progenitor cells in the pathogenesis or treatment of lung vascular disease. In this Pulmonary Perspective, we review recent data on the importance of the lung circulation, specifically examining the relationship between dysmorphic vascular growth and impaired alveolarization, and speculate on how these new insights may lead to novel therapeutic strategies for bronchopulmonary dysplasia. PMID:17272782

  16. 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

    three and bronchopulmonary dysplasia (BPD) or death and further to assess the impact of patent ductus arteriosus (PDA) on this association in neonates born before 32 gestational weeks. METHODS: A cohort study of 183 neonates born before 32 gestational weeks consecutively admitted to the Neonatal...

  17. Vascular Endothelial Growth Factor/Placental Growth Factor Heterodimer Levels in Preterm Infants with Bronchopulmonary Dysplasia.

    Science.gov (United States)

    Procianoy, Renato S; Hentges, Cláudia R; Silveira, Rita C

    2016-04-01

    Background Bronchopulmonary dysplasia (BPD) is associated with changes in pulmonary angiogenesis. However, the role of the vascular endothelial growth factor/placental growth factor (VEGF/PlGF) heterodimer, an antiangiogenic factor, remains unknown in this disease. Objective To compare VEGF/PlGF levels in preterm infants with and without BPD. Methods This study was approved by the Institutional Review Board. Preterm neonates with birth weight institutions after 72 hours of life; death before blood collection; presence of major congenital malformations, inborn errors of metabolism, and early sepsis; and mothers with multiple pregnancies, TORCH infections, HIV infection, or autoimmune diseases. BPD was defined as the need for oxygen therapy for a period equal to or greater than 28 days, accompanied by radiographic changes compatible with the disease. Blood was collected from neonates in the first 72 hours of life. VEGF/PlGF levels were measured using the enzyme-linked immunosorbent assay method. The chi-square test, t-test, Mann-Whitney test, analysis of variance, and Kruskal-Wallis test were used for statistical analysis. Variables found to be significant in the univariate analysis were included in the multivariate analysis. Results Seventy-three patients were included (19 with BPD, 43 without BPD, and 11 neonates who died in the first 28 days of life), with a mean (SD) gestational age of 30.32 (2.88) weeks and birth weight of 1,288 (462) g. Median VEGF/PlGF levels were higher in the groups with BPD and death in the first 28 days of life than in the group without BPD (16.46 [IQR, 12.19-44.57] and 20.64 [IQR, 13.39-50.22], respectively, vs. 9.14 [IQR, 0.02-20.64] pg/mL], p < 0.001). Higher VEGF/P1GF levels remained associated with BPD and death in the first 28 days of life in the multivariate analysis. Conclusion Higher plasma VEGF/PlGF levels were found in preterm neonates with BPD and in those who died in the first 28 days of life, suggesting an

  18. 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

  19. [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

  20. 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.

  1. 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

  2. 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...

  3. 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.

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

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    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

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

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    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.

  6. 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

  7. A three-dimensional human model of the fibroblast activation that accompanies bronchopulmonary dysplasia identifies Notch-mediated pathophysiology.

    Science.gov (United States)

    Sucre, Jennifer M S; Wilkinson, Dan; Vijayaraj, Preethi; Paul, Manash; Dunn, Bruce; Alva-Ornelas, Jackelyn A; Gomperts, Brigitte N

    2016-05-15

    Bronchopulmonary dysplasia (BPD) is a leading complication of premature birth and occurs primarily in infants delivered during the saccular stage of lung development. Histopathology shows decreased alveolarization and a pattern of fibroblast proliferation and differentiation to the myofibroblast phenotype. Little is known about the molecular pathways and cellular mechanisms that define BPD pathophysiology and progression. We have developed a novel three-dimensional human model of the fibroblast activation associated with BPD, and using this model we have identified the Notch pathway as a key driver of fibroblast activation and proliferation in response to changes in oxygen. Fetal lung fibroblasts were cultured on sodium alginate beads to generate lung organoids. After exposure to alternating hypoxia and hyperoxia, the organoids developed a phenotypic response characterized by increased α-smooth muscle actin (α-SMA) expression and other genes known to be upregulated in BPD and also demonstrated increased expression of downstream effectors of the Notch pathway. Inhibition of Notch with a γ-secretase inhibitor prevented the development of the pattern of cellular proliferation and α-SMA expression in our model. Analysis of human autopsy tissue from the lungs of infants who expired with BPD demonstrated evidence of Notch activation within fibrotic areas of the alveolar septae, suggesting that Notch may be a key driver of BPD pathophysiology. PMID:26968771

  8. 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.

  9. 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

  10. Evaluation of very-low-birth-weight preterm infants with bronchopulmonary dysplasia

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    Esin Yıldız Aldemir

    2010-03-01

    Full Text Available Aim: The study has been done to assess the frequency, etiological risk factors, clinical characteristics, mortality and morbidity rates of bronchopulmonary displasia (BPD in very-low-birth-weight (VLBW preterm infants under 32nd gestational weeks, in the neonatal intensive care unit (NICU. Material and Method: Preterm infants with VLBW characteristics who were diagnosed with BPD between January 2003 and December 2004 have been evaluated for the way of delivery, gender, birth weight, gestational age and etiological risk factors. Duration of the steroid therapy and its early complications have been recorded. Other causes of morbidity and mortality have been assessed.Results: 2226 preterm infants have been admitted to the NICU between January 2003 and December 2004. 825 (37% of these infants were VLBW and 162 died. Forty-two (6.3% of these cases were diagnosed with BPD. Of the etiological factors premature rupture of membranes represented 24%, respiratory distress syndrome 60%, sepsis %66, pneumonia 52%, meningitis 14% and patent ductus arteriosus 25% among the cases. Ventilatory support was needed for 41 infants and 22 of the cases were administered surfactant therapy. Mean initial time for ventilatory support was 5.3±6.6 days wheras mean duration of the ventilatory support was 12.3±11.0 days. Clinical response to steroid therapy was found to be 80% whereas weaning from oxygen took 8.50±5.49 days. Of the steroid complications hyperglycemia represented 38%, hypertension 21% and infection 9% of the cases and none of these adverse effectes were permanent. Seven infants (16% with BPD died and sepsis, pneumonia and necrotizing enterocolitis were found to be responsible. Conclusions: BPD arises multifactorially. Preterm labor, VLBW, mechanical ventilation, prenatal and postnatal infections should be mentioned among the most important risk factors. (Turk Arch Ped 2010; 45: 25-30

  11. Matrix metalloproteinase gene polymorphisms and bronchopulmonary dysplasia: identification of MMP16 as a new player in lung development.

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    Alice Hadchouel

    Full Text Available BACKGROUND: Alveolarization requires coordinated extracellular matrix remodeling, a process in which matrix metalloproteinases (MMPs play an important role. We postulated that polymorphisms in MMP genes might affect MMP function in preterm lungs and thus influence the risk of bronchopulmonary dysplasia (BPD. METHODS AND FINDINGS: Two hundred and eighty-four consecutive neonates with a gestational age of <28 weeks were included in this prospective study. Forty-five neonates developed BPD. Nine single-nucleotide polymorphisms (SNPs were sought in the MMP2, MMP14 and MMP16 genes. After adjustment for birth weight and ethnic origin, the TT genotype of MMP16 C/T (rs2664352 and the GG genotype of MMP16 A/G (rs2664349 were found to protect from BPD. These genotypes were also associated with a smaller active fraction of MMP2 and with a 3-fold-lower MMP16 protein level in tracheal aspirates collected within 3 days after birth. Further evaluation of MMP16 expression during the course of normal human and rat lung development showed relatively low expression during the canalicular and saccular stages and a clear increase in both mRNA and protein levels during the alveolar stage. In two newborn rat models of arrested alveolarization the lung MMP16 mRNA level was less than 50% of normal. CONCLUSIONS: MMP16 may be involved in the development of lung alveoli. MMP16 polymorphisms appear to influence not only the pulmonary expression and function of MMP16 but also the risk of BPD in premature infants.

  12. 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.

  13. 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.

  14. 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.

  15. 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

  16. 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

  17. Trends in survival among extremely-low-birth-weight infants (less than 1000 g without significant bronchopulmonary dysplasia

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    Botet Francesc

    2012-06-01

    Full Text Available Abstract Objective The aim of this study was to analyze the evolution from 1997 to 2009 of survival without significant (moderate and severe bronchopulmonary dysplasia (SWsBPD in extremely-low-birth-weight (ELBW infants and to determine the influence of changes in resuscitation, nutrition and mechanical ventilation on the survival rate. Study design In this study, 415 premature infants with birth weights below 1000 g (ELBW were divided into three chronological subgroups: 1997 to 2000 (n = 65, 2001 to 2005 (n = 178 and 2006 to 2009 (n = 172. Between 1997 and 2000, respiratory resuscitation in the delivery room was performed via a bag and mask (Ambu®, Ballerup, Sweden with 40-50% oxygen. If this procedure was not effective, oral endotracheal intubation was always performed. Pulse oximetry was never used. Starting on January 1, 2001, a change in the delivery room respiratory policy was established for ELBW infants. Oxygenation and heart rate were monitored using a pulse oximeter (Nellcor® attached to the newborn’s right hand. If resuscitation was required, ventilation was performed using a face mask, and intermittent positive pressure was controlled via a ventilator (Babylog2, Drägger. In 2001, a policy of aggressive nutrition was also initiated with the early provision of parenteral amino acids. We used standardized parenteral nutrition to feed ELBW infants during the first 12–24 hours of life. Lipids were given on the first day. The glucose concentration administered was increased by 1 mg/kg/minute each day until levels reached 8 mg/kg/minute. Enteral nutrition was started with trophic feeding of milk. In 2006, volume guarantee treatment was instituted and administered together with synchronized intermittent mandatory ventilation (SIMV + VG. The complications of prematurity were treated similarly throughout the study period. Patent ductus arteriosus was only treated when hemodynamically significant. Surgical closure of the

  18. 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 ...

  19. 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.

  20. 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.

  1. 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

  2. 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

    Directory of Open Access Journals (Sweden)

    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.

  3. 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

  4. 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

  5. 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

  6. 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 ...

  7. 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

  8. 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

  9. 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

  10. 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.

  11. 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.

  12. 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

  13. 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.

  14. 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

  15. 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.

  16. 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。

  17. 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

  18. 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

  19. 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

  20. 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...

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

    Institute of Scientific and Technical Information of China (English)

    郑国方; 武荣; 刘石; 郝小清

    2012-01-01

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

  2. 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

  3. 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

  4. Fatores de risco para a doença por refluxo gastroesofágico em recém-nascidos de muito baixo peso portadores de displasia broncopulmonar Risk factors for gastroesophageal reflux disease in very low birth weight infants with bronchopulmonary dysplasia

    Directory of Open Access Journals (Sweden)

    Thaís B. Mendes

    2008-04-01

    Full Text Available OBJETIVO: Conhecer os fatores de risco para a doença por refluxo gastroesofágico (DRGE em recém-nascidos de muito baixo peso com displasia broncopulmonar. MÉTODOS: Realizou-se um estudo caso-controle incluindo 23 casos e 23 controles com displasia broncopulmonar, sendo realizada investigação por monitorização prolongada do pH esofágico no período de janeiro de 2001 a outubro de 2005. Para cada caso, selecionou-se um controle, e foram comparados pela idade gestacional, peso ao nascimento, gênero, uso de corticóide pré-natal, tempo de ventilação assistida, tempo de oxigenoterapia, tempo de uso de sonda gástrica, uso de xantinas, idade pós-conceptual e peso durante a monitorização do pH esofágico. Realizou-se a análise por regressão logística múltipla para estabelecer o odds ratio (OR com intervalo de confiança de 95% (IC95%. RESULTADOS: Os dois grupos (com e sem DRGE não apresentaram diferenças significativas em relação às variáveis demográficas e de evolução pós-natal, uso de corticóide pré e pós-natal, bem como ao tempo de uso de cafeína, ventilação mecânica e oxigenoterapia. Entretanto, as variáveis intolerância alimentar (OR = 6,55; IC95% 1,05-40,8 e tempo de uso de sonda gástrica (OR = 1,67; IC95% 1,11-2,51 comportaram-se como fatores de risco para DRGE. A variável idade pós-conceptual ao exame de monitorização do pH (OR = 0,02; IC95% OBJECTIVE: To assess risk factors for gastroesophageal reflux disease (GERD in very low birth weight infants with bronchopulmonary dysplasia. METHODS: A case-control study was carried out in 23 cases and 23 control subjects with bronchopulmonary dysplasia submitted to 24-hour esophageal pH monitoring between January 2001 and October 2005. Cases and controls were compared for gestational age, birth weight, gender, use of antenatal steroids, duration of assisted ventilation, duration of oxygen therapy, length of gastric tube use, administration of xanthines

  5. 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

  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. 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....... 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...

  9. 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.

  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

    incidence of PH was 23% among infants with BPD. Furthermore, we found a significantly larger frequency of intubation at birth, postnatal infection, longer duration of continuous positive airway pressure treatment and use of oxygen therapy among infants with PH and BPD than among the remaining infants...

  11. 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...

  12. 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.

  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. Sponastrime dysplasia

    International Nuclear Information System (INIS)

    The 2nd family with Sponastrime Dysplasia is described. The clinical, radiologic and chondro-osseous morphology of boy and girl siblings are presented. The facial appearance is an 'oriental look' with midface hypoplasia and a saddle nose. The radiological findings include the spinal changes of lordosis, osteoporosis and pear-shaped vertebrae, as well as striated metaphyses (osteopathia striata). The morphological findings suggest a disturbance in the formation of cartilage, with a defect in collagen and proteoglycans synthesis in this rare autosomal recessive skeletal dysplasia. (orig.)

  15. 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

  16. Kidney Dysplasia

    Science.gov (United States)

    ... urinary tract defects. 2 1 Swiatecka-Urban A. Multicystic renal dysplasia. Medscape website. http://emedicine.medscape.com/article/982560- ... 27, 2013. Accessed July 14, 2014. 2 Fetal multicystic dysplastic kidney. Anne & Robert H. Lurie Children’s Hospital of Chicago ...

  17. Pseudoachondroplastic dysplasia.

    Directory of Open Access Journals (Sweden)

    Khungar A

    1993-04-01

    Full Text Available Pseudoachondroplasia is a heterogeneous inherited skeletal dysplasia in which dwarfism is a major feature. We report here a case of a 7 year old girl misdiagnosed as rickets, who presented with short stature, lordosis, genu varum and flexion deformities at both the elbows. Skeletal survey revealed epiphyseal and metaphyseal irregularities. A review of literature is also presented.

  18. 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.

  19. 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...

  20. 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 ...

  1. 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- ...

  2. 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

  3. 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...

  4. Mondini dysplasia

    International Nuclear Information System (INIS)

    Recent advances in imaging technique, including high resolution thin section computed tomography scanning and magnetic resonance imaging (MRI), permit the easy diagnosis of congenital malformations of the osseous labyrinth, which have so far been lumped together as 'Mondini dysplasia'. In the present study, the anatomic patterns from the radiogrpahic appearance and the clinical manifestation were examined in 18 patients (23 ears) with radiographic abnormalities of the inner ear. The most common abnormal configuration was a large vestibule (20 of 23 ears). This anomaly of the vestibule often involved the lateral semicircular canal, revealed as a round high signal zone on T2-weighted MRI. However, a large vestibule was not always associated with an abnormal cochlea. Abnormal cochleas were found in 8 of the 20 ears with a large vestibule, and most of these 8 ears had total or profound deafness. But 4 of the 10 ears with residual hearing had low tone deafness and 6 had fluctuating hearing loss, which was frequently associated with attacks of dizziness. These clinical manifestations of Mondini dysplasia are similar to those of patients with endolymphatic hydrops. (author)

  5. 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)

  6. 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)

  7. Oculodentodigital dysplasia.

    Science.gov (United States)

    Doshi, Dharmil C; Limdi, Purvi K; Parekh, Nilesh V; Gohil, Neepa R

    2016-03-01

    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. PMID:27146935

  8. 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.

  9. 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

  10. Genetics Home Reference: oculodentodigital dysplasia

    Science.gov (United States)

    ... Webbing of the fingers or toes Health Topic: Cleft Lip and Palate Health Topic: Tooth Disorders Educational Resources (6 links) ... Dysplasia MalaCards: oculodentodigital dysplasia March of Dimes: Cleft Lip and Cleft ... Oculodentodigital dysplasia Washington University, St. Louis: Neuromuscular ...

  11. 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.

  12. 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...

  13. 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

  14. 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

  15. 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.

  16. 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.

  17. Treatment of hip dysplasia.

    Science.gov (United States)

    Anderson, A

    2011-04-01

    Hip dysplasia is a common orthopaedic developmental disorder of dogs. This paper reviews the treatment options available for management of the condition in the skeletally immature and adult dog. PMID:21906059

  18. 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.

  19. 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.

  20. 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.

  1. Cloverleaf skull with generalised bone dysplasia

    International Nuclear Information System (INIS)

    A case of cloverleaf skull with generalised bone dysplasia is reported. The authors believe that bone dysplasia associated with cloverleaf is neither identical with thanatophoric dysplasia nor achondroplasia. Until identity of thanatophoric dysplasia and cloverleaf skull with generalised bone dysplasia is proved the diseases should be looked upon as separate entities and the wording ''thanatophoric dysplasia with cloverleaf skull'' should be abolished. (orig.)

  2. 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.

  3. Thanatophoric dysplasia in identical twins.

    OpenAIRE

    Young, I D; Patel, I; Lamont, A C

    1989-01-01

    Female twins concordant for thanatophoric dysplasia are presented. Monozygosity was confirmed using minisatellite DNA genetic fingerprinting. The evidence supporting new dominant mutations as the likely cause of thanatophoric dysplasia is reviewed.

  4. 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.

  5. Renal dysplasia: US findings

    International Nuclear Information System (INIS)

    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

  6. 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

  7. 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...

  8. 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 ...

  9. Oral epithelial dysplasia classification systems

    DEFF Research Database (Denmark)

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

    2008-01-01

    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....... Several studies have shown great interexaminer and intraexaminer variability in the assessment of the presence or absence and the grade of oral epithelial dysplasia. The Working Group considered the two class classification (no/questionable/ mild - low risk; moderate or severe - implying high risk) and...

  10. Spondyloepiphyseal dysplasia tarda

    International Nuclear Information System (INIS)

    The authors report on a case of spondyloepiphyseal dysplasia tarda (SDT). The most important clinical and radiological signs are described and the criteria for differential diagnosis listed. Among the bone dysplasias Maroteaux, Lamy and Bernhard distinguished in 1957 a discrete form which they called spondyloepiphyseal dysplasia tarda. The condition was found in 20 patients from four generations of three families studied. SDT is a rare and little-known abnormality of bone development. There have been very few communications concerning this condition. Furthermore, this very rare condition is not considered often enough in differential diagnosis and the findings are often misinterpreted; this also occurred in earlier examinations of the case reported here. (orig./MG)

  11. Imaging features of communicating bronchopulmonary foregut malformation

    International Nuclear Information System (INIS)

    Objective: To summarize the upper gastrointestinal (UGI) series and CT features of communicating bronchopulmonary foregut malformation (CBPFM) and to improve the ability for the diagnosis. Methods: Three cases of CBPFM proved by surgery and pathology were reviewed retrospectively. All the cases performed the UGI series, plain and contrast enhanced CT scan. Results: The UGI series showed abnormal fistulous tracts arising from the esophagus and extending into the mass in the lung in 2 cases, arising from the gastric fundus and extending into the right hemithorax in 1 case. CT demonstrated solid masses in the para-spinal region of the lower lobe in all cases, among them, 1 case showed agenesis of the right lung. Contrast enhanced CT scan showed pulmonary arterial blood supply in 2 cases, systemic blood supply originate from the celiac trunk in 1 case, pulmonary vein drainage in all cases. Reconstruction showed aberrant tracts arise from the esophagus in 2 case, from the gastric fundus in 1 case. Conclusion: CBPFM have various appearance. UGI series can demonstrate the abnormal tract directly, CT can evaluate the lung, the abnormal artery and vein, the communication with the gastrointestinal tract and the associated malformation, so it is the optimal method for the diagnosis of CBPFM. (authors)

  12. 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.

  13. 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

    CPAP) and surfactant treatment. The approach may be supplemented with caffeine citrate and non-invasive positive pressure ventilation for apnoea. The low incidence of BPD seen as a consequence of the treatment strategy is mainly due to a reduced need for mechanical ventilation (MV). Conclusion: Early...

  14. Glucocorticoid Induced Cerebellar Toxicity in the Developing Neonate: Implications for Glucocorticoid Therapy during Bronchopulmonary Dysplasia

    Directory of Open Access Journals (Sweden)

    Kevin K. Noguchi

    2014-01-01

    Full Text Available Prematurely born infants commonly suffer respiratory dysfunction due to the immature state of their lungs. As a result, clinicians often administer glucocorticoid (GC therapy to accelerate lung maturation and reduce inflammation. Unfortunately, several studies have found GC therapy can also produce neuromotor/cognitive deficits and selectively stunt the cerebellum. However, despite its continued use, relatively little is known about how exposure to this hormone might produce neurodevelopmental deficits. In this review, we use rodent and human research to provide evidence that GC therapy may disrupt cerebellar development through the rapid induction of apoptosis in the cerebellar external granule layer (EGL. The EGL is a transient proliferative region responsible for the production of over 90% of the neurons in the cerebellum. During normal development, endogenous GC stimulation is thought to selectively signal the elimination of the EGL once production of new neurons is complete. As a result, GC therapy may precociously eliminate the EGL before it can produce enough neurons for normal cerebellar function. It is hoped that this review may provide information for future clinical research in addition to translational guidance for the safer use of GC therapy.

  15. Meyer's dysplasia epiphysealis

    International Nuclear Information System (INIS)

    The skeletal dysplasias are a group of heterogeneous conditions since the clinical and genetic point of view, that to date they are about 200 different disorders. They have as common denominator an inconvenience of the normal process of growth and development of the bony weaving and their cartilaginous precursors. In this article the case of an adolescent of 16 years is presented with Meyer's dysplasia epiphysealis whose diagnostic was delayed and that as opposed to the cases reported in the literature required surgical treatment due to the persistent symptoms, and the literature is reviewed

  16. 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.

  17. 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.

  18. 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

  19. 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

  20. 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...

  1. 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 of...

  2. BRONCHOPULMONARY COMPLICATIONS OF INDOOR POLLUTION IN IRANIAN RUSTIC POPULATION

    OpenAIRE

    Kazem Amoli

    1994-01-01

    Chronic bronchopulmonary disorders occurred in a large number of rustic females who used to bake bread at their dwellings under unhgyienic conditions. Bronchoscopy revealed advanced pathological changes with characterised black areas infiltrating the bronchial walls. Findings in ten patients who referred with acute chronic respiratory symptoms and a positive history of indoor pollution are described with an emphasis on their bronchoscopic changes.

  3. 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.

  4. Focal cortical dysplasia – review

    OpenAIRE

    Kabat, Joanna; Król, Przemysław

    2012-01-01

    Summary Focal cortical dysplasia is a malformation of cortical development, which is the most common cause of medically refractory epilepsy in the pediatric population and the second/third most common etiology of medically intractable seizures in adults. Both genetic and acquired factors are involved in the pathogenesis of cortical dysplasia. Numerous classifications of the complex structural abnormalities of focal cortical dysplasia have been proposed – from Taylor et al. in 1971 to the last...

  5. Cloverleaf skull with generalised bone dysplasia

    Energy Technology Data Exchange (ETDEWEB)

    Kozlowski, K.; Warren, P.S.; Fisher, C.C.

    1985-09-01

    A case of cloverleaf skull with generalised bone dysplasia is reported. The authors believe that bone dysplasia associated with cloverleaf is neither identical with thanatophoric dysplasia nor achondroplasia. Until identity of thanatophoric dysplasia and cloverleaf skull with generalised bone dysplasia is proved the diseases should be looked upon as separate entities and the wording ''thanatophoric dysplasia with cloverleaf skull'' should be abolished.

  6. Dentin dysplasia type I

    OpenAIRE

    Singh, Aarti; Gupta, Sangesh; Yuwanati, Monal Bhaurao; Mhaske, Shubhangi

    2013-01-01

    Dentin dysplasia type I is a rare hereditary disturbance of dentin formation characterised clinically by nearly normal appearing crowns and hypermobility of teeth that affects one in every 100 000 individuals and manifests in both primary and permanent dentitions. Radiographic analysis shows obliteration of all pulp chambers, short, blunted, and malformed roots, and periapical radiolucencies of non-carious teeth. This paper presents three cases demonstrating classic features of type I dentin ...

  7. 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.

  8. A spectrum of bronchopulmonary anomalies associated with tracheoesophageal malformations

    International Nuclear Information System (INIS)

    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. (orig.)

  9. BRONCHOPULMONARY COMPLICATIONS OF INDOOR POLLUTION IN IRANIAN RUSTIC POPULATION

    Directory of Open Access Journals (Sweden)

    Kazem Amoli

    1994-06-01

    Full Text Available Chronic bronchopulmonary disorders occurred in a large number of rustic females who used to bake bread at their dwellings under unhgyienic conditions. Bronchoscopy revealed advanced pathological changes with characterised black areas infiltrating the bronchial walls. Findings in ten patients who referred with acute chronic respiratory symptoms and a positive history of indoor pollution are described with an emphasis on their bronchoscopic changes.

  10. 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.

  11. 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.

  12. 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.

  13. 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...

  14. Bronchopulmonary sequestration in a 60 year old man

    OpenAIRE

    Naffaa, Lena; Tank, Jay; Ali, Sara; Ong, Cesar

    2014-01-01

    We report a case of bronchopulmonary sequestration (BPS) in a 60 year old man with recurrent cough. After failed antibiotic therapy for presumed left lower lobe (LLL) pneumonia seen on chest radiographs, bronchoscopy was performed revealing cryptogenic organizing pneumonia. Further work-up with thoracic imaging demonstrates a feeding artery from the thoracic aorta to the LLL consolidation indicating the presence of BPS. A brief review of the clinical and radiological features and management o...

  15. 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...

  16. 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

  17. 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)

  18. 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.

  19. Focal cortical dysplasia – review

    International Nuclear Information System (INIS)

    Focal cortical dysplasia is a malformation of cortical development, which is the most common cause of medically refractory epilepsy in the pediatric population and the second/third most common etiology of medically intractable seizures in adults. Both genetic and acquired factors are involved in the pathogenesis of cortical dysplasia. Numerous classifications of the complex structural abnormalities of focal cortical dysplasia have been proposed – from Taylor et al. in 1971 to the last modification of Palmini classification made by Blumcke in 2011. In general, three types of cortical dysplasia are recognized. Type I focal cortical dysplasia with mild symptomatic expression and late onset, is more often seen in adults, with changes present in the temporal lobe. Clinical symptoms are more severe in type II of cortical dysplasia usually seen in children. In this type, more extensive changes occur outside the temporal lobe with predilection for the frontal lobes. New type III is one of the above dysplasias with associated another principal lesion as hippocampal sclerosis, tumor, vascular malformation or acquired pathology during early life. Brain MRI imaging shows abnormalities in the majority of type II dysplasias and in only some of type I cortical dysplasias. The most common findings on MRI imaging include: focal cortical thickening or thinning, areas of focal brain atrophy, blurring of the gray-white junction, increased signal on T2- and FLAIR-weighted images in the gray and subcortical white matter often tapering toward the ventricle. On the basis of the MRI findings, it is possible to differentiate between type I and type II cortical dysplasia. A complete resection of the epileptogenic zone is required for seizure-free life. MRI imaging is very helpful to identify those patients who are likely to benefit from surgical treatment in a group of patients with drug-resistant epilepsy. However, in type I cortical dysplasia, MR imaging is often normal, and also in both

  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. Bronchopulmonary sequestration in a 60 year old man.

    Science.gov (United States)

    Naffaa, Lena; Tank, Jay; Ali, Sara; Ong, Cesar

    2014-10-01

    We report a case of bronchopulmonary sequestration (BPS) in a 60 year old man with recurrent cough. After failed antibiotic therapy for presumed left lower lobe (LLL) pneumonia seen on chest radiographs, bronchoscopy was performed revealing cryptogenic organizing pneumonia. Further work-up with thoracic imaging demonstrates a feeding artery from the thoracic aorta to the LLL consolidation indicating the presence of BPS. A brief review of the clinical and radiological features and management options of BPS are listed, with particular emphasis on the various imaging modalities and techniques in the diagnosis and pre-surgical planning of intralobar sequestration. PMID:25426223

  2. 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.

  3. Ectodermal dysplasia: a genetic review.

    Science.gov (United States)

    Deshmukh, Seema; Prashanth, S

    2012-09-01

    Ectodermal dysplasia is a rare hereditary disorder with a characteristic physiognomy. It is a genetic disorder affecting the development or function of the teeth, hair, nails and sweat glands. Depending on the particular syndrome ectodermal dysplasia can also affect the skin, the lens or retina of the eye, parts of the inner ear, the development of fingers and toes, the nerves and other parts of the body. Each syndrome usually involves a different combination of symptoms, which can range from mild to severe. The history and lessons learned from hypohidrotic ectodermal dysplasia (HED) may serve as an example for unraveling of the cause and pathogenesis of other ectodermal dysplasia syndromes by demonstrating that phenotypically identical syndromes can be caused by mutations in different genes (EDA, EDAR, EDARADD), that mutations in the same gene can lead to different phenotypes and that mutations in the genes further downstream in the same signaling pathway (NEMO) may modify the phenotype quite profoundly. The aim of this paper is to describe and discuss the etiology, genetic review, clinical manifestations and treatment options of this hereditary disorder. How to cite this article: Deshmukh S, Prashanth S. Ectodermal Dysplasia: A Genetic Review. Int J Clin Pediatr Dent 2012; 5(3):197-202. PMID:25206167

  4. Perfusion lung scintigraphy in primary broncho-pulmonary cancer

    International Nuclear Information System (INIS)

    Research on primary broncho-pulmonary cancer has called extensively on scintigraphy and it seemed interesting to weigh up the pros and cons of the technique in this particular case. Our intention is to sum up objectively from recent documents the applications of scintigraphy in the study of primary broncho-pulmonary cancers and to attempt, on the basis of the results compiled, to show what benefits have been gained from this technique and to find out whether it has any pre-surgical value and of what kind. The technique was invariable; the tracer consists of human albumin macro-aggregates labelled with technetium 99m which by its short half-life and slight penetration enables four exposures to be taken during the same examination (front, back, right and left profiles), thus reducing the risks of mistaken diagnoses due to the use of a single incidence. Similarly the detection method was always the scintillation camera which explores the whole organ at once, considerably shortening the examination time. Lung scintigraphy by perfusion of labelled human albumin macro-aggregates offers the great advantage of being simple to use and harmless. It is easy to understand the important place it has taken in the range of methods available for lung circulation exploration

  5. 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.

  6. Chondroectodermal dysplasia: a rare syndrome.

    Directory of Open Access Journals (Sweden)

    Dana Tahririan

    2014-06-01

    Full Text Available Chondroectodermal dysplasia (Ellis-Van Creveld syndrome is a rare autosomal recessive congenital abnormality. This syndrome is characterized by a spectrum of clinical findings, among which chondrodystrophy, polydactyly, ectodermal dysplasia, and congenital cardiac anomalies are the most common. It is imperative to not overlook the cardiac complications in patients with this syndrome during dental procedures. The case presented here, although quite rare, was detected under normal conditions and can be alarming for dental care providers. Clinical reports outline the classical and unusual oral and dental manifestations, which help health care providers diagnose chondroectodermal dysplasia, and refer patients with this syndrome to appropriate health care professionals to receive treatment to prevent further cardiac complications and bone deformities.

  7. 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

  8. 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

  9. 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.

  10. Epithelial dysplasia in Caroli's disease.

    OpenAIRE

    Fozard, J B; Wyatt, J I; Hall, R I

    1989-01-01

    We report a young patient with a solitary intrahepatic cyst without demonstrable connection with the biliary tree. The operative appearances suggested hydatid disease but histological examination of the resected cyst showed that it was the result of Caroli's disease already complicated by severe dysplasia. This case provides further evidence for the premalignant nature of Caroli's disease.

  11. 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 ( ...

  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. 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.

  14. High Incidence of Rickets in Extremely Low Birth Weight Infants with Severe Parenteral Nutrition-Associated Cholestasis and Bronchopulmonary Dysplasia

    OpenAIRE

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

    2012-01-01

    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...

  15. 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.

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

    Science.gov (United States)

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

    2014-10-28

    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. PMID:25349664

  17. 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 apparently unilateral right developmental dysplasia (left hip center-edge angles greater than 20 degrees), 26 patients with apparently unilateral left developmental dysplasia (right hip center-edge angles greater than 20 degrees), 68 patients with bilateral developmental dysplasia, and 34 patients...... with bilateral borderline developmental dysplasia (bilateral center-edge angles less than or equal to 25 degrees). The pelvic computed tomography scans were compared with computed tomography scans of 41 control subjects with healthy hips. The joint anatomy of patients with developmental dysplasia differed from...

  18. Cleidocranial dysplasia: a case report

    Energy Technology Data Exchange (ETDEWEB)

    Han, Jin Won [Kangnung National University College of Medicine, Kangnung (Korea, Republic of)

    2005-12-15

    Cleidocranial dysplasia is a rare, autosomal dominant congenital disorder. A 12-year-old female visited with chief complaint of unerupted permanent teeth. Also her father showed severe class III malocclusion. The extraoral radiography and computed tomography showed delayed closure of the cranial sutures and underdevelopment of maxilla, maxillary sinuses, and frontal sinus. Both clavicles were underdeveloped and thoracic rib cage was bell-shaped. Both zygomatic process appeared as hypoplastic feature. There were many unerupted permanent and supernumerary teeth in the maxilla and mandible. We examined location and number of the unerupted teeth using 3D CT. Finally we could conclude this case was cleidocranial dysplasia based on the clinico-radiologic findings.

  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. 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.

  1. 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...

  2. 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.

  3. Ectodermal dysplasia in identical twins

    OpenAIRE

    Gurkar Haraswarupa Puttaraju; Paranjyothi Magadi Visveswariah

    2013-01-01

    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 facia...

  4. 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.

  5. 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.

  6. 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

  7. 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. 

  8. Chest radiographic and computed tomographic manifestations in allergic bronchopulmonary aspergillosis

    Directory of Open Access Journals (Sweden)

    Ritesh Agarwal

    2012-01-01

    Full Text Available AIM: To investigate the chest radiographic and high resolution computed tomography (HRCT chest manifestations in glucocorticoid-naïve allergic bronchopulmonary aspergillosis (ABPA patients. METHODS: This is a prospective observational study and includes 60 consecutive glucocorticoid-naïve patients with ABPA who underwent chest radiography and HRCT of the chest (1.25 mm every 10 mm in the routine diagnostic workup for ABPA. RESULTS: Chest radiographs were normal in 50% of cases. Of the remainder, most patients demonstrated permanent findings in the form of parallel line and ring shadows suggesting bronchiectasis. Consolidation was detected in 17 cases but in the majority, the corresponding HRCT chest scan showed mucus-filled bronchiectatic cavities. Chest HRCT was normal in 22 patients, while central bronchiectasis (CB was demonstrated in the remaining 38 patients. Bronchiectasis extended to the periphery in 33%-43% depending on the criteria used for defining CB. The other findings observed on HRCT were mucoid impaction, centrilobular nodules and high-attenuation mucus in decreasing order of frequency. CONCLUSION: Patients with ABPA can present with normal HRCT chest scans. Central bronchiectasis cannot be considered a characteristic feature of ABPA as peripheral bronchiectasis is commonly observed. Consolidation is an uncommon finding in ABPA.

  9. Allergic bronchopulmonary aspergillosis: Lessons for the busy radiologist

    Directory of Open Access Journals (Sweden)

    Ritesh Agarwal

    2011-01-01

    Full Text Available The probability of a radiologist interpreting a disease correctly is not only influenced by their training and experience but also on the knowledge of a particular entity. This editorial reviews certain myths and realities associated with radiological manifestations of allergic bronchopulmonary aspergillosis (ABPA. ABPA is a hypersensitivity disorder against the antigens of Aspergillus fumigatus. Although commonly manifesting with central bronchiectasis (CB, the disorder can present without any abnormalities on high-resolution computed tomography (HRCT of the chest, so-called serologic ABPA (ABPA-S. HRCT of the chest should not be used in screening or in the initial diagnostic work up of asthmatics, as asthma without ABPA can manifest with findings of CB. High-attenuation mucus (HAM is the pathognomonic sign of ABPA and is very helpful in the diagnosis of ABPA complicating asthma and cystic fibrosis. Instead of classifying ABPA based on the presence and absence of CB into ABPA-CB and ABPA-S respectively, ABPA should be classified as ABPA-S, ABPA-CB and ABPA-CB-HAM. The classification scheme based on HAM not only identifies an immunologically severe disease but also predicts a patient with increased risk of recurrent relapses.

  10. 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

  11. Allergic bronchopulmonary aspergillosis in patients with cystic fibrosis.

    Science.gov (United States)

    Mroueh, S; Spock, A

    1994-01-01

    In order to determine the incidence of allergic bronchopulmonary aspergillosis (ABPA) in patients with cystic fibrosis (CF), we reviewed the records of 236 patients followed up at the Duke CF Center. Sixty patients (25 percent) had colonies of Aspergillus fumigatus. These patients were older and had more severe disease as assessed by lower Shwachman-Kulczycki (S-K) scores than the patients who did not have evidence of A fumigatus. In 15 of the patients with A fumigatus (6.5 percent of the total population), the diagnosis was ABPA. Age and S-K scores were not significantly different from those of the patients with A fumigatus without ABPA. Diagnostic features of the affected patients included wheezing refractory to bronchodilator therapy, persistent pulmonary infiltrates, peripheral eosinophilia, positive skin reactivity to an A fumigatus antigen and elevated total serum IgE levels. Steroid therapy was started for all patients, and clinical improvement was noted within 1 month as evidenced by decreased symptoms and weight gain. Chest x-ray films usually showed improvement. Vital capacity improved in all but two patients. Total IgE did not consistently decrease in response to therapy. Although the diagnosis of ABPA may be difficult to establish, ABPA commonly is associated with CF. Most patients respond to steroid therapy; however, the effect of therapy on the course of the disease is difficult to assess. PMID:8275769

  12. 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) • ...

  13. Wilms' tumour and renal dysplasia: an hypothesis

    OpenAIRE

    Marsden, HB; Lawler, W

    1982-01-01

    The incidence of renal dysplasia in a series of Wilms' tumours is presented. The distribution of such lesions is discussed, together with their course of development and regression. The kidney is regarded as a particularly suitable organ for studying the relation between dysplasia and neoplasia. A schema is suggested for this association with regard to Wilms' tumour.

  14. Septo-optic dysplasia (case report)

    OpenAIRE

    Nayak Venkatesh; Bhat K

    1991-01-01

    Septo optic dysplasia is a rare developmental anomaly involving bilateral optic nerve hypoplasia, midline anomalies of the brain and hypothalamo-pituitary dysfunction. A case of septo-optic dysplasia with pituitary dwarfism, optic nerve hypoplasia and absent septum pellucidum is reported.

  15. 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 ...

  16. 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.

  17. Spondylar dysplasia in type X collagenopathy

    International Nuclear Information System (INIS)

    Background. The type X collagen gene (COL10A1) is currently known as the disease-causing gene of metaphyseal dysplasia type Schmid (MDS), whereas a mutation of COL10A1 has been reported to cosegregate with a disease phenotype of mild spondylometaphyseal dysplasia (SMD) in a Japanese family. Objective. To elucidate whether or not spondylar dysplasia is common in patients with mutations of COL10A1 Materials and methods. We re-evaluated the radiological manifestations in six patients with mutations of COL10A1, who had been previously reported as having MDS. Results. Two of six patients showed mild platyspondyly in infancy and early childhood. In both patients, the spondylar dysplasia tended to normalize with age, but mild alterations of the vertebral bodies persisted, even into late childhood. The other radiological manifestations of both patients were identical to those of MDS. Conclusion. Our observation suggests that mild spondylar dysplasia may not be uncommon in MDS. (orig.)

  18. Renal dysplasia and MRI: a clinician's perspective

    International Nuclear Information System (INIS)

    Renal dysplasia is a common abnormality in children. The role of MRI in evaluating children with renal dysplasia is evolving. More information is clearly necessary before MRI replaces conventional imaging modalities. In order to appropriately use MRI, the radiologist must have an understanding of the clinical questions that are important in the management of children with renal dysplasia. This review provides background information on renal dysplasia for the pediatric radiologist. The focus is on unilateral disease, especially multicystic dysplastic kidneys, and bilateral dysplasia, which is the most common cause of kidney failure in children. The emphasis is on the important clinical issues, and the potential of MRI as a methodology for providing clinically useful information not otherwise available from other imaging modalities. (orig.)

  19. 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.

  20. Congenital acinar dysplasia. Case Report

    International Nuclear Information System (INIS)

    Pulmonary hypoplasia (PH) is a rare cause of pulmonary insufficiency , and had a significant rate of morbidity and mortality among affected infants. In most cases ,pulmonary hypoplasia is secondry to underlying abnormalities . These may include space occupying lesions as infants with cogential diaphragmatic hernia; malformation of chest wall resulting in a small thorcacic cavity; severe and prolonged olygohydramnios; and neuromuscular disorders, which prevent normal fetal chest expansion.All lead to poor lung development. Primary PH as a result of cogenital acinar dysplasia is exceedingly rare and is diagnosed by exclusionof all known etiologies of secondary PH. (author)

  1. 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

  2. [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

  3. 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

  4. 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

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

    Directory of Open Access Journals (Sweden)

    AntongiulioFaggiano

    2011-08-01

    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.

  6. 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

  7. 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)

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

    International Nuclear Information System (INIS)

    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 (90Y-DOTATOC vs. 177Lu-DOTATATE vs. 90Y-DOTATOC + 177Lu-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 177Lu-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 90Y-DOTATOC + 177Lu-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 90Y-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 the potential selection biases, considering the

  9. 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

  10. 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.

  11. 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.

  12. 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.

  13. Segmental renal dysplasia--a case report.

    OpenAIRE

    Gupta S; Chumber S; Sharma L

    1995-01-01

    A case of segmental renal dysplasia presenting with loin pain, a renal mass and hypertension in a young girl of 16 years is being reported. Clinical and histological features of this rare renal anomaly are discussed.

  14. 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.)

  15. Genetics Home Reference: Langer mesomelic dysplasia

    Science.gov (United States)

    Skip to main content Your Guide to Understanding Genetic Conditions Enable Javascript for addthis links to activate. ... Conditions Genes Chromosomes & mtDNA Resources Help Me Understand Genetics Home Health Conditions Langer mesomelic dysplasia Langer mesomelic ...

  16. Williams-Beuren Syndrome with Brain Dysplasia

    OpenAIRE

    J Gordon Millichap

    2013-01-01

    Investigators from Jichi and Yokohama City Universities, Japan, report a patient with the common Williams-Beuren syndrome (WBS) deletion in 7q11.23 who presented with severe cerebral and cerebellar dysplasia and progressive hypertrophic cardiomyopathy.

  17. Aggressive fibrous dysplasia of the maxillary sinus

    International Nuclear Information System (INIS)

    Five of 34 patients (ages 4-21 years), who were subsequently diagnosed histologically as having fibrous dysplasia of the maxillary sinus, rapidly developed soft tissue masses of the malar region over a period of less than 4 months with accompanying pain (2 patients) and nasal obstruction and exophthalmos (2 patients). Each was clinically suspected of having a sarcoma. After resection, all lesions developed regrowth. At histopathologic examination, both initial and recurrent masses proved to be typical fibrous dysplasia. (orig./UWA)

  18. 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.

  19. CONGENITAL RADIAL DYSPLASIA: A CASE REPORT

    Directory of Open Access Journals (Sweden)

    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

  20. 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...

  1. 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

  2. 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.

  3. 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

  4. 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

  5. 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...

  6. 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.

  7. Prevalence of bronchopulmonary pathology in the participants of Chernobyl Nuclear Power Plant accident response

    International Nuclear Information System (INIS)

    Epidemiologic examination of the participants of the Chernobyl accident response is performed. Fact of acute effect of the Chernobyl aerosol inhalation on respiratory organs is found. Prevalence of bronchopulmonary diseases in participants of accident response is almost 2 times higher than that in reference group. Further program of investigations includes the hospital stage and the preventive measures at prehospital stage under ambulatory conditions. Assessments of the efficiency of performed treatment - prophylactic measures and their economic benefit are made

  8. Diagnosis and treatment of bronchopulmonary neuroendocrine tumours: State of the art

    DEFF Research Database (Denmark)

    Tabaksblat, Elizaveta Mitkina; Langer, Seppo W; Knigge, Ulrich; Grønbæk, Henning; Mortensen, Jann; Petersen, René Horsleben; Federspiel, Birgitte Hartnack; Ladekarl, Morten

    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...... 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....

  9. Allergic bronchopulmonary aspergillosis complicating Swyer-James-Macleod's syndrome: case report and review of literature.

    Science.gov (United States)

    Sehgal, I S; Dhooria, S; Behera, D; Agarwal, R

    2016-05-01

    Allergic bronchopulmonary aspergillosis (ABPA) is a pulmonary disorder that results from immune responses mounted against antigens of Aspergillus fumigatus, resulting in non-specific respiratory symptoms and structural lung damage. Classically defined in individuals suffering from bronchial asthma and cystic fibrosis, ABPA has recently been described in other lung diseases including COPD, pulmonary tuberculosis, idiopathic bronchiectasis and others. Herein, we report the first case of ABPA complicating Swyer-James-Macleod's syndrome that was successfully treated with oral antifungal therapy. PMID:27152607

  10. 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 ...

  11. Frontometaphyseal dysplasia: evidence for autosomal dominant inheritance.

    Science.gov (United States)

    Kassner, E G; Haller, J O; Reddy, V H; Mitarotundo, A; Katz, I

    1976-12-01

    Frontometaphyseal dysplasia is a syndrome that encompasses cranial hyperostosis, abnormal tubulation of cylindrical bones, and other skeletal and extraskeletal abnormalities. The most striking features are overgrowth of the supraorbital ridges which results in a Mephistophelian facial appearance and a radiographic configuration of the skull that has been likened to a soldier's helmet. Most patients have severe hearing loss, defective dentition, poorly developed musculature, and joint contractures. Dominant inheritance has been suggested in previous reports, but an appropriate pedigree has been documented in only one family. This paper describes three additional patients in two unrelated families: (1) an 8-year-old boy whose mother has mild metaphyseal dysplasia and several minor skeletal abnormalities that have occurred in patients with the syndrome; and (2) two maternal half-brothers. These cases provide additional evidence that frontometaphyseal dysplasia is an autosomal dominant trait with variable penetrance. PMID:998829

  12. [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

  13. Occipital projections in the skeletal dysplasias

    International Nuclear Information System (INIS)

    Occipital projections of the cranium have been reported in a number of skeletal dysplasias and syndromes. We observed two cases of atelosteogenesis type I with a bony occipital projection. This finding has neither been noted nor reported in any form of atelosteogenesis. This led us to search the International Skeletal Dysplasia Registry for occipital projections, and we found them in four other syndromes in which they had not been reported. Thus occipital spurs are a non-diagnostic feature that can be found in at least ten distinct disorders as well as a normal variant. (orig.)

  14. Sponastrime dysplasia. A radiologic-pathologic correlation

    Energy Technology Data Exchange (ETDEWEB)

    Lachman, R.S.; Stoss, H.; Spranger, J.

    1989-07-01

    The 2nd family with Sponastrime Dysplasia is described. The clinical, radiologic and chondro-osseous morphology of boy and girl siblings are presented. The facial appearance is an 'oriental look' with midface hypoplasia and a saddle nose. The radiological findings include the spinal changes of lordosis, osteoporosis and pear-shaped vertebrae, as well as striated metaphyses (osteopathia striata). The morphological findings suggest a disturbance in the formation of cartilage, with a defect in collagen and proteoglycans synthesis in this rare autosomal recessive skeletal dysplasia. (orig.).

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

    International Nuclear Information System (INIS)

    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.)

  16. 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

  17. 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.

  18. MR findings of the osteofibrous dysplasia

    International Nuclear Information System (INIS)

    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.

  19. 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.

  20. 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.

  1. [Renal dysplasia: clinico-pathologic review].

    Science.gov (United States)

    Cunha, A S; de Sousa, J F; Garcia, C

    1992-05-01

    Histology records from 63 nephrectomies were reviewed; 22 patients had unilateral totally dysplastic kidneys and 5 had polar or segmental dysplasia. A clinicopathological study of these cases was undertaken. In the first group, there was a slight male preponderance and 75% of the patients presented were under two years of age. Urinary tract infection was the most common complaint. 4 patients were diagnosed in utero by ultrasound and 5 infants presented an abdominal mass. Hypertension was documented in a newborn baby. Ipsilateral lower urinary tract anomalies were found in 12 patients and those of the contralateral kidney in 2 children. There were 3 cases of extrarenal anomalies. Histological examination revealed 13 cases of multicystic dysplasia and 9 of solid dysplasia. Metaplastic cartilage was found in 1 case. In the group of segmental dysplasia, age ranging from 27 weeks' gestation to 8 years, at the time of the diagnosis. They all had duplex kidneys and 4 had ureterocele. Histological study in these cases was similar to the one found in the previous series, although superimposed inflammatory changes were more pronounced. Some of the theories regarding the pathogenesis of this disorder are reviewed and the importance of its diagnosis is emphasised. PMID:1502940

  2. Multicystic renal dysplasia: a diagnostic dilemma.

    Science.gov (United States)

    Alam, Kiran; Varshney, Manoranjan; Aziz, Mehar; Maheshwari, Veena; Basha, Mahfooz; Gaur, Kavita; Ghani, Imran

    2011-01-01

    A 3-year-old male child had left-sided abdominal lump for 4 months. Radiological examination revealed a cystic mass in the left kidney. A tentative diagnosis of multicystic nephroma was made on clinical and radiological examination. Cytology was inconclusive. Nephrectomy was done. A final diagnosis of multicystic dysplasia was made on histological examination. PMID:22696732

  3. Melorheostosis - a rare dysplasia of the bones

    International Nuclear Information System (INIS)

    A rare case of melorheostosis is reported. The typical radiographic findings known under the term of 'flowing bone' are characteristic of this osteosclerotic dysplasia. Bone scintiscanning and high-resolution MRI can be used to round up the diagnostic findings descibing this rare and benign bone lesion. (orig.)

  4. Williams-Beuren Syndrome with Brain Dysplasia

    Directory of Open Access Journals (Sweden)

    J Gordon Millichap

    2013-10-01

    Full Text Available Investigators from Jichi and Yokohama City Universities, Japan, report a patient with the common Williams-Beuren syndrome (WBS deletion in 7q11.23 who presented with severe cerebral and cerebellar dysplasia and progressive hypertrophic cardiomyopathy.

  5. 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.

  6. 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.

  7. 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.

  8. 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.

  9. 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...

  10. 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.

  11. 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.

  12. 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...

  13. 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...

  14. 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

  15. 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,...

  16. Steroid contraceptive use and cervical dysplasia: increased risk of progression.

    Science.gov (United States)

    Stern, E; Forsythe, A B; Youkeles, L; Coffelt, C F

    1977-06-24

    In a prospective study of women with dysplasia of the cervix, there was an increase in severity of dysplasia and of conversion to cancer in situ in users of the contraceptive pill compared with users of other contraceptive methods. There was a delay in this adverse response. Nonreversal of dysplasia within the first 6 months of pill use is predictive of progression after prolonged exposure. PMID:867043

  17. 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 ...

  18. Malignant transformation of fibrous dysplasia into chondroblastic osteosarcoma

    International Nuclear Information System (INIS)

    A case of malignant transformation of polyostotic fibrous dysplasia into maxillary chondroblastic osteosarcoma is presented. The clinical, radiographic, CT, MR imaging features and pathological findings of polyostotic fibrous dysplasia and its malignant transformation are described. Malignant transformation of fibrous dysplasia is rare and has not previously been described in the English literature in this location in McCune-Albright syndrome and in the absence of radiation treatment. (orig.)

  19. MR imaging features of craniodiaphyseal dysplasia

    Energy Technology Data Exchange (ETDEWEB)

    Marden, Franklin A. [Mallinckrodt Institute of Radiology, Washington University Medical Center, 510 South Kingshighway Blvd., MO 63110, St. Louis (United States); Department of Radiology, St. Louis Children' s Hospital, Children' s Place, MO 63110, St. Louis (United States); Wippold, Franz J. [Mallinckrodt Institute of Radiology, Washington University Medical Center, 510 South Kingshighway Blvd., MO 63110, St. Louis (United States); Department of Radiology, St. Louis Children' s Hospital, Children' s Place, MO 63110, St. Louis (United States); Department of Radiology/Nuclear Medicine, F. Edward Hebert School of Medicine, Uniformed Services University of the Health Sciences, MD 20814, Bethesda (United States)

    2004-02-01

    We report the magnetic resonance (MR) imaging findings in a 4-year-old girl with characteristic radiographic and computed tomography (CT) features of craniodiaphyseal dysplasia. MR imaging exquisitely depicted cranial nerve compression, small foramen magnum, hydrocephalus, and other intracranial complications of this syndrome. A syrinx of the cervical spinal cord was demonstrated. We suggest that MR imaging become a routine component of the evaluation of these patients. (orig.)

  20. 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.

  1. 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...

  2. 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.

  3. Cleidocranial Dysplasia with Autosomal Dominant Inheritance Pattern

    OpenAIRE

    Bhargava, P.; Khan, S; Sharma, R.; Bhargava, S.

    2014-01-01

    Cleidocranial dysplasia (CCD) is an autosomal dominant disease with a wide range of expression, characterized by clavicular hypoplasia, retarded cranial ossification, delayed bone and teeth development, supernumerary teeth, stomatognathic, craniofacial and skeletal abnormalities. This paper presents a case of CCD in a female with brachycephalic skull, depressed frontal bone and nasal bridge, hypoplastic middle one-third of face with mandibular prognathism and hyper mobility of both shoulders ...

  4. Geleophysic dysplasia: Report on two sibs

    Directory of Open Access Journals (Sweden)

    Raquel Boy

    1998-03-01

    Full Text Available The authors describe two additional cases of Geleophysic dysplasia in siblings, which is a rare autosomal recessive disorder of glycoprotein metabolism whose basic defects remain to be determined.Os autores descrevem dois novos casos de displasia Geleofísica em irmãos, uma doença autossômica recessiva rara do metabolismo de glicoproteínas cujo defeito básico ainda não foi determinado.

  5. 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 ...

  6. 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...

  7. 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...

  8. 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...

  9. Hypohidrotic Ectodermal Dysplasia (ED): A Case Series

    OpenAIRE

    Kishore, Mallika; Panat, Sunil R; Aggarwal, Ashish; Agarwal, Nupur; Upadhyay, Nitin; Ajai, Kratika; Alok, Abhijeet

    2014-01-01

    Ectodermal Dysplasia (ED) is a rare disorder with defects in two or more of the following structures: the teeth and the skin and its appendages including hair, nails, eccrine, and sebaceous glands. Dental manifestations include hypodontia, complete anodontia or malformed teeth. The most common form of the ED syndrome is hypohidrotic ED and is usually inherited as an X-linked recessive trait. Female carriers may have a variable degree of clinical manifestations. The condition is thought to occ...

  10. Comparison of three methods to diagnose hip dysplasia in dogs

    International Nuclear Information System (INIS)

    The present study was designed to compare the usefulness of goniometry, radiography and distraction index in diagnosis of hip dysplasia in dogs. During the study 25 clinical cases (50 joints) suspected for hip dysplasia were evaluated. Norberg angle was found to have a significant positive correlation with extension, flexion, abduction, and adduction angles and a significant negative correlation with distraction index (DI) measurements. It could be inferred that all the six parameters (NA, DI, extension, flexion, abduction, and adduction) were reliable indicators for early diagnosis of hip dysplasia.Goniometry could be used as a safe and easy method for preliminary suspicion of hip dysplasia

  11. FGFR3-related condition: a skeletal dysplasia with similarities to thanatophoric dysplasia and SADDAN due to Lys650Met.

    Science.gov (United States)

    Farmakis, Shannon G; Shinawi, Marwan; Miller-Thomas, Michelle; Radmanesh, Alireza; Herman, Thomas E

    2015-03-01

    Mutations in the fibroblast growth factor receptor 3 (FGFR3) gene account for six related skeletal dysplasia conditions: achondroplasia, hypochondroplasia, thanatophoric dysplasia types 1 and 2, SADDAN (severe achondroplasia with developmental delay and acanthosis nigricans), and platyspondylic lethal skeletal dysplasia, San Diego type. This group of disorders has very characteristic clinical and radiologic features, which distinguish them from other skeletal dysplasias. They display a spectrum of severity in the skeletal findings, ranging from relatively mild hypochondroplasia to lethal thanatophoric dysplasia. We report a patient who has the missense FGFR3 mutation, Lys650Met, previously reported in association only with SADDAN, who exhibits some findings similar to both thanatophoric dysplasia (types 1 and 2) in addition to those findings characteristic of SADDAN. PMID:25119967

  12. Monostotic fibrous dysplasia of the lumbar spine.

    Science.gov (United States)

    Avimadje, A M; Goupille, P; Zerkak, D; Begnard, G; Brunais-Besse, J; Valat, J P

    2000-01-01

    Monostotic fibrous dysplasia is exceedingly rare. We report a case in a 61-year-old woman with a history of recurrent low back pain and sciatica since 35 years of age. While walking, she suddenly experienced pain in her right thigh. The pain spread gradually to the buttock and calf on the same side, becoming increasingly severe. The time pattern was mechanical, with exacerbation during straining. Paresthesia developed over the dorsal aspect of the right foot. Nonsteroidal antiinflammatory drugs were ineffective. Radiographs of the spine showed an expansile and heterogeneous lesion in the body of L2. Hyperactivity of L3 and L4 was seen on the bone scan. Computed tomography demonstrated heterogeneity of L2, L3, and L4, as well as hypertrophy of the neural arch of L3 and of the right posterior lamina and spinous process of L4. Alterations in L2, L3, and L4 were noted on the magnetic resonance imaging study, which showed no evidence of epidural involvement. Laboratory tests were normal. A surgical biopsy of L3 established the diagnosis of fibrous dysplasia. Since the seminal description of fibrous dysplasia in 1891, only 21 cases of monostotic spinal involvement have been published. The spinal lesions can remain clinically silent or cause spinal pain with or without neurological symptoms. Radiographic findings are variable (heterogeneity, osteolysis, expansion without cortical violation or soft tissue involvement). Calcium and phosphate levels are normal. The diagnosis depends on examination of a vertebral biopsy specimen. PMID:10773971

  13. The removal of inhaled 239Pu from beagle dogs by bronchopulmonary lavage and chelation therapy

    International Nuclear Information System (INIS)

    The efficacy of bronchopulmonary lavage and chelatan therapy for removing 239Pu from beagle dogs after inhalation of 239Pu aerosols having different solubilities has been investigated. The four aerosols used were nebulized from a solution of 239PuCl4 and heat treated at temperatures of 325, 600, 900 and 11500C. Groups of six beagle dogs were exposed to each of the aerosols. Subsequently, three dogs in each group were treated by lavage and intravenous injections of DTPA. The remaining three dogs in each group served as untreated controls. It was found that bronchopulmonary lavage treatment was effective in removing nearly half of the 239Pu activity from the lung regardless of the aerosol production temperature. This early removal of 239Pu activity resulted in a significant reduction in daily dose rate and therefore cumulative α dose to lung. The effectiveness of DTPA treatment depended on aerosol production temperature, and was effective in reducing accumulation of 239Pu in liver and skeleton of the dogs that inhaled aerosols produced at 3250 and 6000C by enhancing urinary excretion of 239Pu. (U.K.)

  14. Allergic bronchopulmonary mycosis due to fungi other than Aspergillus: a global overview.

    Science.gov (United States)

    Chowdhary, Anuradha; Agarwal, Kshitij; Kathuria, Shallu; Gaur, Shailendra Nath; Randhawa, Harbans Singh; Meis, Jacques F

    2014-02-01

    Allergic bronchopulmonary mycosis (ABPM) is a hypersensitivity-mediated disease of worldwide distribution. We reviewed 143 reported global cases of ABPM due to fungi other than aspergilli. The commonest etiologic agent was Candida albicans, reported in 60% of the cases, followed by Bipolaris species (13%), Schizophyllum commune (11%), Curvularia species (8%), Pseudallescheria boydii species complex (3%) and rarely, Alternaria alternata, Fusarium vasinfectum, Penicillium species, Cladosporium cladosporioides, Stemphylium languinosum, Rhizopus oryzae, C. glabrata, Saccharomyces cerevisiae and Trichosporon beigelii. India accounted for about 47% of the globally reported cases of ABPM, attributed predominantly to C. albicans, followed by Japan (16%) where S. commune predominates, and the remaining one-third from the USA, Australia and Europe. Notably, bronchial asthma was present in only 32% of ABPM cases whereas its association with development of allergic bronchopulmonary aspergillosis (ABPA) is known to be much more frequent. The cases reviewed herein revealed a median IgE value threefold higher than that of ABPA, suggesting that the etiologic agents of ABPM incite a stronger immunological response than that by aspergilli in ABPA. ABPM is currently underdiagnosed, warranting comprehensive basic and clinical studies in order to elucidate its epidemiology and to devise a more effective therapy. PMID:23383677

  15. 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

  16. 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

  17. 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.)

  18. 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.

  19. Lethal skeletal dysplasia owing to double heterozygosity for achondroplasia and spondyloepiphyseal dysplasia congenita.

    OpenAIRE

    Young, I D; Ruggins, N R; Somers, J M; Zuccollo, J M; N. Rutter

    1992-01-01

    A male infant with lethal short limbed dwarfism is described. His father had spondyloepiphyseal dysplasia congenita and his mother had achondroplasia. It is believed that the infant inherited both of these disorders and that their combined effects resulted in early death owing primarily to severe pulmonary hypoplasia.

  20. 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.

  1. 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.

  2. [The dysplasia of myelopoiesis in patients with acute lymphoblastic leucosis].

    Science.gov (United States)

    Frenkel', M A; Kupryshkina, N A; Lebedeva, N B; Zharova, Z D; Baranova, O Iu; Tupitsyn, N N

    2012-12-01

    Nowadays, the analysis of hematopoiesis in patients with acute lymphoblastic leucosis includes only quantitative characteristics of residue myeloid process of bone marrow. The evaluation of myelodysplasia is unexplored still. The analysis of myelopoiesis was carried on sampling of 108 patients with primary acute lymphoblastic leucosis (27 - T-acute lymphohlastic leucosis, 81 - B-acute Iymphoblastic leucosis). The characteristics of dysplasia of granulocytes, erythroid cells and megakaryocytes were based on the parameters of WHO classification of acute myeloid leucosis (2001). The monolinear dysplasia was established in 35 patients (32.4%). multilinear dysplasia--in 9 patients (8.3%). Under T- acute lymphoblastic leucosis the bilinear dysplasia was detected reliably more often and absence of dysplasia more rare than under B-acute lymphoblastic leucosis. The signs of dysplasia of various myeloid lines had no inter-correlation and had no dependencies from indicators of expression of early antigens (CCD34 and TdT) and myeloid antigens (CD13, CD33). The comparison of factual data with indicators of dysplasia under acute mteloid leucosis (181 patients) demonstrated that rates of uni- and multilinear dysplasia under T-acute Iymphoblastic leucosis and acute myeloid leucosis have no significant difference. The myelodysplasia is detected reliably (more often under B-acute lymphoblastic leucosis as compared with acute myeloid leucosis. PMID:23479968

  3. Whole saliva in X-linked hypohidrotic ectodermal dysplasia

    DEFF Research Database (Denmark)

    Lexner, Michala Oron; Bardow, Allan; Hertz, Jens Michael; Almer, Lis; Nauntofte, Birgitte; Kreiborg, Sven

    2007-01-01

    BACKGROUND: X-linked hypohidrotic ectodermal dysplasia (HED) is the most common type of ectodermal dysplasia. Identification of female carriers of X-linked HED can be difficult because of varying degrees of clinical symptoms due to the X-chromosome inactivation. This is the first study about whol...

  4. Renal dysplasia and MRI: a clinician's perspective

    Energy Technology Data Exchange (ETDEWEB)

    Greenbaum, Larry A. [Emory University, Division of Pediatric Nephrology, Children' s Healthcare of Atlanta, Atlanta, GA (United States)

    2008-01-15

    Renal dysplasia is a common abnormality in children. The role of MRI in evaluating children with renal dysplasia is evolving. More information is clearly necessary before MRI replaces conventional imaging modalities. In order to appropriately use MRI, the radiologist must have an understanding of the clinical questions that are important in the management of children with renal dysplasia. This review provides background information on renal dysplasia for the pediatric radiologist. The focus is on unilateral disease, especially multicystic dysplastic kidneys, and bilateral dysplasia, which is the most common cause of kidney failure in children. The emphasis is on the important clinical issues, and the potential of MRI as a methodology for providing clinically useful information not otherwise available from other imaging modalities. (orig.)

  5. 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 ...

  6. 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.

  7. Imaging of dysplasia epiphysealis hemimelica (Trevor's disease)

    International Nuclear Information System (INIS)

    Dysplasia epiphysealis hemimelica (DEH; synonyms; Trevor's or Trevor Fairbank disease) is a rare developmental disorder of the skeleton characterized by asymmetric osteochondral overgrowth of the cartilage of a medial or lateral epiphysis or epiphyseal equivalent. Imaging plays an important role in the diagnosis and management of DEH and in assessing the need for biopsy to differentiate it from more sinister diseases. There is no recent comprehensive review of the imaging of DEH and the purpose of this article is to describe the modern radiological manifestations of DEH

  8. 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

  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. 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

  11. 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.

  12. Profit of 111In-Pentetreotide scintigraphy (OCTREOSCAN) in the broncho-pulmonary cancers

    International Nuclear Information System (INIS)

    The aim of this study was to determine the sensitivity of the scintigraphy of somatostatin receptors in detecting the primary and metastatic sites. A prospective multi-center study including 54 patients (49 M, 5 F, average age 60 ± 9 years) carrying a broncho-pulmonary cancer was carried out as follows: 17 small cell carcinomas (SCC), 15 adenocarcinomas (ADC), 14 epidermoid carcinomas (EC), 7 un-differentiated carcinomas (UDC) and a mixed carcinoma. The planar images of skull, thorax, abdomen and pelvis were done 4 h and 24 h after injecting about 110 MBq of 111In-Pentetreotide. The T/B ratio was determined at 4 h and at 24 h. The results of scintigraphy were compared with the usual extension account. A table is given showing the T/B ratio at 0D and 1D for SCC, ADC, EC and UDC, respectively. The primary tumors were detected with a 100% sensitivity, independently of the histologic type. The UDC were in average more fixating than the other types of tumors. The gap is significant (p = 0.05) relative to the ADC, at 24 h. Visually, the fixation of the primary site seems to pass beyond the anatomic limits of the tumor. The metastatic stretches (all the sites merged) were visualized in 37% of cases. In exchange, the scintigraphy is clear more performing in detecting the cerebral metastases (sensitivity: 70%) particularly, in the SCC (sensitivity: 100%). In conclusion, the Octreoscan scintigraphy is highly sensible in the detection of the primary broncho-pulmonary cancers of any types and seems to be of interest in detecting the cerebral metastases

  13. Improvement in health status following bronchopulmonary hygiene physical therapy in patients with bronchiectasis.

    Science.gov (United States)

    Mutalithas, Kugathasan; Watkin, Gillian; Willig, Briony; Wardlaw, Andrew; Pavord, Ian D; Birring, Surinder S

    2008-08-01

    Chronic productive cough is a common symptom in patients with bronchiectasis that is associated with a reduction in health-related quality of life (QOL). Bronchopulmonary hygiene physical therapy (BHPT) is widely prescribed for patients with bronchiectasis, although the evidence for its efficacy is limited. We set out to prospectively evaluate the impact of BHPT on health-related QOL in patients with non-cystic fibrosis bronchiectasis. We assessed cough symptoms (0-100mm visual analogue scale; VAS) and cough-related QOL in 53 patients with stable non-cystic fibrosis bronchiectasis at baseline and >4 weeks after outpatient-based BHPT. Cough specific health status was assessed with the Leicester Cough Questionnaire (LCQ; total score range 3-21, higher scores representing better QOL). All patients with bronchiectasis complained of cough as the major symptom and had mean (SEM) FEV(1) of 2.1 (0.1)L. Cough-related health status was reduced at baseline; mean (SEM) LCQ score 14.3 (0.6). There were significant improvements in cough symptoms (mean cough VAS before 43.3 (3.6) vs after 27.5 (3.1); mean difference 15.8; 95% CI of difference 9.6-22; p<0.0001) and cough-related health status after BHPT (mean LCQ total score before 14.2 vs after 17.3; mean difference 3.1; 95% confidence interval of difference 2.4-3.9; p<0.001). A significant improvement was seen in all LCQ health-related domains (physical, psychological and social; all p<0.001). Our findings suggest that bronchopulmonary hygiene physical therapy can lead to a significant improvement in cough-related quality of life. PMID:18585027

  14. Arrhythmogenic right ventricular dysplasia: MRI findings

    International Nuclear Information System (INIS)

    Arrhythmogenic right ventricular dysplasia (ARVD) is a heart muscle disorder of unknown cause that is characterized pathologically by fibrofatty replacement of the right ventricular myocardium. Clinical manifestations include structural and functional malformations of the right ventricle, electrocardiographic abnormalities, and presentation with ventricular tachycardias with left bundle branch pattern or sudden death. The disease is often familial with an autosomal inheritance. In addition to right ventricular dilatation, right ventricular aneurysms are typical deformities of ARVD and they are distributed in the so-called ''triangle of dysplasia'', i. e., right ventricular outflow tract, apex, and infundibulum. Ventricular aneurysms at these sites can be considered pathognomonic of ARVD. Another typical hallmark of ARVD is fibrofatty infiltration of the right ventricular free wall. These functional and morphologic characteristics are relevant to clinical imaging investigations such as contrast angiography, echocardiography, radionuclide angiography, ultrafast computed tomography, and magnetic resonance imaging (MRI). Among these techniques, MRI allows the clearest visualization of the heart, in particular because the right ventricle is involved, which is usually more difficult to explore with the other imaging modalities. Furthermore, MRI offers the specific advantage of visualizing adipose infiltration as a bright signal of the right ventricular myocardium. MRI provides the most important anatomic, functional, and morphologic criteria for diagnosis of ARVD within one single study. As a result, MRI appears to be the optimal imaging technique for detecting and following patients with clinical suspicion of ARVD. (orig.)

  15. 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.

  16. 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.

  17. Mondini dysplasia; Clinical signs and diagnostic imaging

    Energy Technology Data Exchange (ETDEWEB)

    Takeda, Taizo; Kakigi, Akinobu; Takeuchi, Shunji; Saito, Haruo (Kochi Medical School, Nankoku (Japan))

    1992-12-01

    Recent advances in imaging technique, including high resolution thin section computed tomography scanning and magnetic resonance imaging (MRI), permit the easy diagnosis of congenital malformations of the osseous labyrinth, which have so far been lumped together as 'Mondini dysplasia'. In the present study, the anatomic patterns from the radiogrpahic appearance and the clinical manifestation were examined in 18 patients (23 ears) with radiographic abnormalities of the inner ear. The most common abnormal configuration was a large vestibule (20 of 23 ears). This anomaly of the vestibule often involved the lateral semicircular canal, revealed as a round high signal zone on T2-weighted MRI. However, a large vestibule was not always associated with an abnormal cochlea. Abnormal cochleas were found in 8 of the 20 ears with a large vestibule, and most of these 8 ears had total or profound deafness. But 4 of the 10 ears with residual hearing had low tone deafness and 6 had fluctuating hearing loss, which was frequently associated with attacks of dizziness. These clinical manifestations of Mondini dysplasia are similar to those of patients with endolymphatic hydrops. (author).

  18. 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.

  19. 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.

  20. 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

  1. 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...... PCR. 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....

  2. 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

  3. A new type of spondylo-metaphyseal dysplasia - Algerian type

    International Nuclear Information System (INIS)

    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. (orig.)

  4. 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.

  5. Congenital cytomegalovirus infection: a cause of renal dysplasia?

    Science.gov (United States)

    Chan, Maren; Hecht, Jonathan L; Boyd, Theonia; Rosen, Seymour

    2007-01-01

    Cytomegalovirus (CMV) infection is one of the most frequently encountered viral infections of the fetus and induces a wide range of histologic and clinical manifestations. Congenital abnormalities are typically restricted to the central nervous system despite evidence of CMV inclusions occurring in most epithelial cells. Although tissue injury and even glomerulonephritis have been observed in congenital CMV infections, renal multicystic dysplasia has not been reported. Herein, we describe a case of unilateral renal dysplasia in a 19-week fetus with concurrent CMV infection. We believe the present case to be the first description of a virus apparently inducing renal multicystic dysplasia. PMID:17638423

  6. 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.

  7. Estimating the cardiorespiratory status of patients with occupational toxic involvement of the bronchopulmonary system and in the Chernobyl liquidators

    International Nuclear Information System (INIS)

    Bronchopulmonary and cardiovascular status was studied in 81 Chernobyl liquidators aged 38-68 and in 57 patients aged 47-67 occupationally exposed to toxic chemicals. X-ray examination showed that diffuse pneumosclerosis predominated in the group with occupational disease. Fibrobronchoscopy showed atrophic changes, and examination of the external respiratory function revealed predominate of restrictive disorders. In liquidators, roentgenography showed no radiation pneumonitis. Fibrobronchoscopy showed predominate of catarrhal changes in the bronchial mucosa. Obstructive disorders revealed in examination of the external respiratory function were caused mainly by blocking of air passage at the level of vocal cords, throat, and upper airways. Elements of combined bronchopulmonary and cardiovascular disease were detected in 4 % of liquidators and in 55 % patients with occupational disease

  8. 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

  9. 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

  10. 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 ...

  11. X-ray morphofunctional changes in the bronchopulmonary system of workers engaged in ethylene oxide production and processing

    International Nuclear Information System (INIS)

    A total of 3475 workers engaged in ethyleneoxide production for 2-20 years, were examined by clinical and x-ray methods. X-ray examinations included roentgenomorphologic (total fluorography of the thoracic cavity organs and long-distance roentgenofunctional methods of examination of the bronchopulmonary system. Chronic bronchitis was detected in 407 workers in 76.2 % of it was chronic nonobstructive functionally unstable bronchitis, in the rest it was chronic obstructive bronchitis

  12. Ectodermal dysplasia-skin fragility syndrome

    Directory of Open Access Journals (Sweden)

    Vijay S Adhe

    2011-01-01

    Full Text Available Ectodermal dysplasia-skin fragility (EDSF syndrome is a rare and first described inherited disorder of desmosomes. It occurs due to loss-of-function mutations in PKP1 gene resulting in poorly formed desmosomes and loss of desmosomal and epidermal integrity. We report a case of a 2-year-old Indian male child who presented with palmoplantar hyperkeratosis with fissuring, short, sparse, and easily pluckable scalp hair, nail dystrophy, and multiple erosions over the skin. Skin biopsy showed epidermal hyperplasia with widening of intercellular spaces. His developmental milestones were delayed but intelligence was normal. Echocardiography, X-ray chest, and electrocardiogram were normal. Very few cases of this syndrome have been reported in the literature. We consider this as the first case report from India.

  13. Oral rehabilitation of children with ectodermal dysplasia.

    Science.gov (United States)

    Montanari, Marco; Callea, Michele; Battelli, Filippo; Piana, Gabriela

    2012-01-01

    The aim of this study was to describe the clinical treatment of young patients, affected by ectodermal dysplasia (ED), and to possibly establish clinical guidelines. The study design was case series. ED syndromes (EDs) are a heterogeneous group of inherited diseases characterised by abnormal development of tissues of ectodermal origin. The most common form of EDs is X linked hypohidrotic ED (HED). Characteristic triad of HED is oligo-anodontia, hypotricosis, hypo-anhydrosis. Oligo-anodontia is one of the most severe impairment, since it affects chewing, swallowing, speech, esthetics and social relation. Early prosthetic rehabilitation (at 2-3 years of age), with partial or complete dentures, is essential to improve oral function and reduce the social impairment. PMID:22729329

  14. Cleidocranial dysplasia with autosomal dominant inheritance pattern.

    Science.gov (United States)

    Bhargava, P; Khan, S; Sharma, R; Bhargava, S

    2014-07-01

    Cleidocranial dysplasia (CCD) is an autosomal dominant disease with a wide range of expression, characterized by clavicular hypoplasia, retarded cranial ossification, delayed bone and teeth development, supernumerary teeth, stomatognathic, craniofacial and skeletal abnormalities. This paper presents a case of CCD in a female with brachycephalic skull, depressed frontal bone and nasal bridge, hypoplastic middle one-third of face with mandibular prognathism and hyper mobility of both shoulders with associated radiographic features. Odontologist is often the first professional who patient of CCD approaches, since there is a delay in the eruption or absence of permanent teeth. The premature diagnosis allows a scope for proper treatment modalities, offering a better life quality for patient. PMID:25184084

  15. 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.

  16. Genetics Home Reference: CHST3-related skeletal dysplasia

    Science.gov (United States)

    ... K, Robertson SP. Spondyloepiphyseal dysplasia, Omani type: further definition of the phenotype. Am J Med Genet A. 2008 Sep ... should consult with a qualified healthcare professional . About Genetics Home ...

  17. 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

  18. 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

  19. Focal Cortical Dysplasia Type IIB and Human Papillomavirus

    Directory of Open Access Journals (Sweden)

    J. Gordon Millichap

    2013-03-01

    Full Text Available Researchers at Temple University School of Medicine, Philadelphia, PA tested the hypothesis that human papillomavirus type 16 oncoprotein E6 (HPV16 E6 is present in human focal cortical dysplasia type IIB (FCDIIB specimens.

  20. 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.

  1. Genetics Home Reference: X-linked spondyloepiphyseal dysplasia tarda

    Science.gov (United States)

    ... Diseases Patient Support and Advocacy Resources (5 links) International Skeletal Dysplasia Registry, UCLA National Organization for Rare Disorders (NORD) Resource list from the University of Kansas Medical Center The Human Growth Foundation The MAGIC Foundation Gene Reviews (1 ...

  2. Contraceptives and dysplasia: higher rate for pill choosers.

    Science.gov (United States)

    Stern, E; Clark, V A; Coffelt, C F

    1970-07-31

    Among women choosing the pill in preference to other contraceptive methods there is a higher rate of the cancer precursor, dysplasia of the cervix, before any possible effect of the pill. PMID:17739011

  3. Histomorphology of renal dysplasia--an autopsy study.

    Science.gov (United States)

    Kakkar, Nandita; Menon, Santosh; Radotra, B D

    2006-01-01

    A retrospective analysis of pediatric autopsies in the past 18 years was done with the aim of studying the histomorphology of renal dysplasia. Renal dysplasia comprised 150 (3.66%) of the 4,099 pediatric autopsies from 20 weeks of gestation to 1 year of life. Primitive ducts with the fibromuscular collar, the sine qua non of renal dysplasia, was seen in all cases. Lobar disorganization and cysts were seen in all cases except for the 7 cases of hypodysplasia. Other elements were seen in varying proportions: cartilage in 33.7%, bone in 1.08%, thickening of basement membrane of the primitive ducts in 64.13%, extramedullary hematopoiesis in 98.9%, nerve twigs in 72.8%, and nodular renal blastema in 2.17% cases. In unilateral multicystic dysplasia/renal agenesis, the contralateral kidney showed abnormalities in 44.45% and 47.37% of cases, respectively. PMID:16908457

  4. 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.

  5. 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

  6. Systematic evaluation of bone dysplasias by the paediatric radiologist

    International Nuclear Information System (INIS)

    A bone dysplasia is often a difficult diagnosis for the radiologist to achieve. However, principles of interpretation can make the task both interesting and often straightforward. In general, one of the factors of bone growth is in some way impaired, yielding an abnormal skeleton. To analyse what is impaired may greatly assist in narrowing the diagnostic possibilities. In most dysplasias, the affected growth factor is either one of enchondral or membranous bone growth. When interpreting bone radiographs for dysplasia one should be aware that aberrant positioning, that may lead to foreshortening in space, may simulate impaired growth in time. Dysplasia diagnosis for the paediatric radiologist is an art, but it can also be a science (as well as a pattern recognition challenge). (orig.)

  7. Genetics Home Reference: Schimke immuno-osseous dysplasia

    Science.gov (United States)

    Skip to main content Your Guide to Understanding Genetic Conditions Enable Javascript for addthis links to activate. ... Conditions Genes Chromosomes & mtDNA Resources Help Me Understand Genetics Home Health Conditions Schimke immuno-osseous dysplasia Schimke ...

  8. 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.

  9. 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.

  10. 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.

  11. 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...

  12. 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 ...

  13. 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...

  14. 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...

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

    OpenAIRE

    Gautier Chene; Frédérique Penault-Llorca; Anne Tardieu; Anne Cayre; Nicole Lagarde; Patricia Jaffeux; Bruno Aublet-Cuvelier; Pierre Dechelotte; Bertrand Felloni; Jean-Luc Pouly; Jacques Dauplat

    2012-01-01

    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 cyste...

  16. 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...

  17. Dentin dysplasia type 1d: A rare case

    OpenAIRE

    Sujit Ranjan Sahoo; Sonia Aggarwal

    2014-01-01

    Dentin dysplasia is a rare hereditary disturbance of dentin formation characterized by a defective dentin development with clinically normal-appearing crowns, severe hypermobility of teeth and spontaneous dental abscesses or cysts. Radiographic analysis shows obliteration of all pulp chambers by pulp stones, short, blunted and malformed or absent roots, peri-apical radiolucencies of noncarious teeth. We present a case of dentin dysplasia type 1d in a 19-year-old boy along with the clinical, r...

  18. 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.

  19. 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...

  20. Syntelencephaly associated with connected transhemispheric cleft of focal cortical dysplasia.

    Science.gov (United States)

    Fujimoto, S; Togari, H; Banno, T; Wada, Y

    1999-05-01

    The authors report a female with syntelencephaly associated with a connected transhemispheric cleft of focal cortical dysplasia. Syntelencephaly is a rare anomaly characterized by fusion of the hemispheres in the posterior frontal and parietal regions and is considered a new variant of holoprosencephaly. Cranial magnetic resonance imaging of the patient revealed syntelencephaly associated with bilateral fused clefts of focal cortical dysplasia without the pial-ependymal seam, which was regarded as an incomplete type of schizencephaly. The underlying mechanism is discussed. PMID:10371387

  1. ULTRASONOGRAPHIC FINDINGS IN CAIRN TERRIERS WITH PRECLINICAL RENAL DYSPLASIA

    OpenAIRE

    Seiler, Gabriela S.; Rhodes, James; Cianciolo, Rachel; Casal, Margret L.

    2010-01-01

    Renal dysplasia is a hereditary disease characterized by abnormal differentiation of renal tissue. The ultrasonographic appearance of dysplastic canine kidneys has been reported in the late stage of the disease where inflammatory and degenerative changes are already present and the dogs are in chronic renal failure. In this study, we describe the ultrasonographic appearance of the kidneys of five related Cairn Terriers affected with renal dysplasia before the onset of clinical or laboratory e...

  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. 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

  4. 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.

  5. 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...

  6. Mutation in WNT10A Is Associated with an Autosomal Recessive Ectodermal Dysplasia: The Odonto-onycho-dermal Dysplasia

    OpenAIRE

    Adaimy, Lynn ; Chouery, Eliane ; Mégarbané, Hala ; Mroueh, Salman ; Delague, Valérie ; Nicolas, Elsa ; Belguith, Hanen ; de Mazancourt, Philippe ; Mégarbané, André 

    2007-01-01

    Odonto-onycho-dermal dysplasia is a rare autosomal recessive syndrome in which the presenting phenotype is dry hair, severe hypodontia, smooth tongue with marked reduction of fungiform and filiform papillae, onychodysplasia, keratoderma and hyperhidrosis of palms and soles, and hyperkeratosis of the skin. We studied three consanguineous Lebanese Muslim Shiite families that included six individuals affected with odonto-onycho-dermal dysplasia. Using a homozygosity-mapping strategy, we assigned...

  7. Antifungal treatment in allergic bronchopulmonary aspergillosis with and without cystic fibrosis: a systematic review.

    Science.gov (United States)

    Moreira, A S; Silva, D; Ferreira, A Reis; Delgado, L

    2014-10-01

    Allergic bronchopulmonary aspergillosis (ABPA) is a rare disease that affects patients with asthma or cystic fibrosis. Its debilitating course has led to the search for new treatments, including antifungals and monoclonal antibodies. To evaluate the efficacy and safety of antifungal treatments in patients with ABPA and either asthma or cystic fibrosis, we performed a systematic review of the literature on the effects of antifungal agents in ABPA using three biomedical databases. Quality assessment was performed using the GRADE methodology and, where appropriate, studies with comparable outcomes were pooled for meta-analysis. Thirty-eight studies - four randomized controlled trials and 34 observational studies - met the eligibility criteria. The antifungal interventions described were itraconazole, voriconazole, posaconazole, ketoconazole, natamycin, nystatin and amphotericin B. An improvement in symptoms, frequency of exacerbations and lung function was reported in most of the studies and was more common with oral azoles. Antifungals also had a positive impact on biomarkers and radiological pulmonary infiltrates, but adverse effects were also common. The quality of the evidence supporting these results was low or very low due to a shortage of controlled studies, heterogeneity between studies and potential bias. Antifungal interventions in ABPA improved patient and disease outcomes in both asthma and cystic fibrosis. However, the recommendation for their use is weak and clinicians should therefore weigh up desirable and undesirable effects on a case-by-case basis. More studies with a better methodology are needed, especially in cystic fibrosis, to increase confidence in the effects of antifungal treatments in ABPA. PMID:24809846

  8. A murine model of allergic bronchopulmonary aspergillosis with elevated eosinophils and IgE.

    Science.gov (United States)

    Kurup, V P; Mauze, S; Choi, H; Seymour, B W; Coffman, R L

    1992-06-15

    A model of allergic bronchopulmonary aspergillosis was developed by exposing BALB/c mice to Aspergillus fumigatus (AF) Ag. Animals immunized intranasally (i.n.) with soluble AF Ag produced low levels of serum IgE compared to animals given alum precipitated AF Ag i.p. The latter treatment also produced higher levels of serum IgG1 and AF-specific IgG1 than soluble AF given i.p. or i.n.. Blood and lung eosinophilia was detected in mice repeatedly exposed to AF by i.n. but not in the groups injected i.p. Particulate AF Ag-induced striking blood and lung eosinophilia and elevated levels of serum IgE in mice preexposed to AF Ag. The results indicate that route of inoculation and physical nature of Ag determine the immune response and can be manipulated to obtain enhanced IgE, eosinophils, or both in the animal model. PMID:1602128

  9. 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.

  10. 18F - fluorodeoxyglucose (FDG) and broncho-pulmonary cancer. Preliminary results

    International Nuclear Information System (INIS)

    The metabolic imaging allowed by emission positron tomography (EPT) represents a new approach in the cancer diagnosis. The augmentation of glycoprotein metabolism in malignant lesions can be evidenced by FDG. The broncho-pulmonary cancer (BPC) poses clinical problems of tissue characterization which are not solved optimally by radiological imaging, so that the new technique presents a major interest. The authors report the first data obtained in France with a positron chamber in 12 patients studied since June 1996, namely 10 cases of pulmonary nodules and two of mediastinal ganglionic extension of BPC. Cross sections from skull to pelvis were achieved 45 minutes after the IV injection of 37 MBq of FDG per 10 kg of weight. The anatomical-pathological examination was systematic and the agreement with EPT was good in 10 cases of 12 (9 positive trues and 1 negative true), in addition, new sites were evidenced, 3 times of 12. They were overlooked by the radiological technique and thus, susceptible of modifying the treatment. These preliminary results are coherent with those reported in the international literature. They incited starting a prospective large-scale study of measuring the diagnosis performances of FDG in EPT in determining the malignity of solitary nodules and mediastinal extension of primary tumors

  11. Arrhythmogenic right ventricular dysplasia: MR features

    International Nuclear Information System (INIS)

    Arrhythmogenic right ventricular dysplasia (ARVD) is a heart disease characterized by a total or partial fat replacement of the myocardium. A total of 30 patients were studied with a suspected diagnosis of ARVD. Clinical criteria used for evaluation of ARVD were: (a) ventricular origin arrhythmias with a left bundle branch block configuration, (b) T-wave inversion in the anterior precordial leads, (c) ventricular kinetic alterations observed using echocardiography and angiography and (d) cardiac failure when there are no pathologies attributable to other heart diseases. All patients had serial EKG and echocardiography tests. One third of patients underwent angiocardiography; 7 of 30 had Holter; 7 of 30 had exercise test just to evaluate the effectiveness of the anti-arrhythmic therapy. All patients underwent MRI examination. The following MRI criteria were used: (a) high-intensity areas indicating the fatty substitution of the myocardium, (b) ectasia of the right ventricular outflow tract, (c) dyskinetic bulges, (d) dilation of the right ventricle and (e) enlargement of the right atrium. The diagnosis of ARVD was classified as highly probable for patients manifesting at least three positive criteria, probable with two positive criteria, dubious with one and negative in the absence of all criteria. Highly probable diagnosis of ARVD was made in 8 patients, probable in 4, dubious in 7 and negative in 11. The MRI technique is very effective in the assessment of ARVD. The MRI criteria may be helpful in the diagnosis of this condition. (orig.). With 6 figs., 1 tab

  12. Bilateral femoral head dysplasia and osteochondritis

    International Nuclear Information System (INIS)

    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. (orig.)

  13. 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

  14. 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

  15. Septo-Optic Dysplasia Syndrome: a Case Report

    Directory of Open Access Journals (Sweden)

    H Alizadeh

    2006-05-01

    Full Text Available Objective: Septo-optic dysplasia consists of optic nerve and septum pellucidum dysgenesis. This syndrome is divided into two subgroups (with or without schizencephaly based on embryological and neuropathologic findings. In about 2/3 of the patients pituitary and hypothalamic dysfunction leads to diabetes insipidus, hypothyroidism and isolated GH deficiency. The association of this syndrome with cortical dysplasia is named septo-optic dysplasia plus. Case report: We report on a 2 year-old girl with visual loss, polyuria and Polydipsia. Her parents noticed visual problem as she was 2 months old. We found right hemiparesis, bilateral cupping and hypoplasia of the optic discs. CT scan, showed lobar holoporencephaly and ventriculomegaly. In MRI septo-optic dysplasia, and atrophy of the optic nerves and chiasma as well as absence of septum pllucidum were seen. In addition, we found central diabetes insipidus and partial GH deficiency in this case. Conclusion: This case illustrates the usefulness of MRI and other imaging procedures in diagnosing septo-optic and septum pellucidum dysplasia in children with developmental retardation

  16. 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.

  17. 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

  18. 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

  19. 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.

  20. 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.

  1. Preliminary study on the rate of broncho-pulmonary cancer in a Romanian department (Bihor) for the estimation of radon risk exposure

    International Nuclear Information System (INIS)

    The purpose of this paper is a retrospective estimation on the rate of lung cancer at the population in the Bihor district (Romania) in two years (1993 -1994) and the potential bronchopulmonary cancer risk from indoor radon. In this time were found 473 cases with primary bronchopulmonary cancer: 400 men (84.5%) and 73 women (15.4%). Most cases ( 64.4%) were from rural environment while the other 35.5% were from urban environment. Preliminary study on the potential lung cancer risk from indoor radon encompassed 40 cases and 66 non-cancer controls in the period March-July 1995. (author)

  2. Inclination and anteversion of Collum femoris in hip dysplasia and coxarthritis

    International Nuclear Information System (INIS)

    Femoral neck angles were measured radiographically in 41 dogs examined for hip dysplasia. Steep femoral neck inclination was found to be a phenomenon of hip dysplasia and coxofemoral joint laxity. The altered biomechanics of a steep femoral neck inclination may be a factor in the pathogenesis of hip dysplasia and secondary osteoarthritis

  3. Cranioplasty Using a Modified Split Calvarial Graft Technique in Cleidocranial Dysplasia

    OpenAIRE

    Jung, Young Taek; Cho, Jae Ik; Lee, Sang Pyung

    2015-01-01

    Cleidocranial dysplasia is a well-documented rare autosomal dominant skeletal dysplasia characterized by hypoplastic/aplastic clavicles, brachycephalic skull, patent sutures and fontanelles, midface hypoplasia, and abnormalities of dentition. Patients with cleidocranial dysplasia often complain about undesirable esthetic appearance of their forehead and skull. Notwithstanding many studies of molecular, genetics and skeletal abnormalities of this congenial disorder, there have been very few wr...

  4. Dose-response relationships and time course of the response to systemic beta adrenoreceptor agonists in infants with bronchopulmonary disease.

    OpenAIRE

    Kraemer, R; Birrer, P; Schöni, M H

    1988-01-01

    The lung function response to three doses of salbutamol 0.075 mg/kg given at 10 minute intervals by gastric tube was studied in 31 infants aged 2-22 months with bronchopulmonary disease (eight after the respiratory distress syndrome, 15 with wheezy bronchitis, and eight with cystic fibrosis). Lung function was measured by whole body plethysmography. Seven of 31 infants had normal lung function and 10 of the remaining 24 had an increase in thoracic gas volume (TGV), 10 an increase in airway re...

  5. Bronchopulmonary Carcinoids causing Cushing Syndrome: Results from a Multicentric Study Suggesting a More Aggressive Behavior.

    Science.gov (United States)

    Lococo, Filippo; Margaritora, Stefano; Cardillo, Giuseppe; Filosso, Perluigi; Novellis, Pierluigi; Rapicetta, Cristian; Carleo, Francesco; Bora, Giulia; Cesario, Alfredo; Stefani, Alessandro; Rossi, Giulio; Paci, Massimiliano

    2016-03-01

    Objective Cushing syndrome (CS) caused by bronchopulmonary carcinoids (BCs) is a very rare entity. The aim of this study was to revisit the features of a multicenter clinical series to identify significant prognostic factors. Methods From January 2002 to December 2013, the clinical and pathological data of 23 patients (treated in five different institutions) were retrospectively reviewed. Survival analysis was performed to explore the relative weight of potential prognostic factors. Results Median age and male/female ratio were 48 years and 14/9, respectively. Most (> 80%) of the patients presented with CS-related symptoms at diagnosis. Tumor location was peripheral in 13 patients (57%) and central in 10 (43%). All patients but two (treated with chemotherapy) underwent surgical resection with curative intent. Definitive cyto/histology was indicative of typical carcinoid (TC) in 16 cases (70%) and atypical carcinoid (AC) in 7 cases (30%). A complete remission of CS was obtained in 16 cases (70%). Lymph nodal involvement was detected in 11 cases (48%), with N2 disease occurring in 7 (∼ 30% of all cases). Four patients (22%) experienced a relapse of the disease after radical surgery. Overall 5-year survival (long-term survival, LTS) was 60%, better in TCs when compared with AC (LTS: 66 v s. 48%, p = 0.28). Log-rank analysis identified ECOG performance status, cTNM and cN staging, pTNM and pN staging, persistence of CS and relapses (local p = 0.006; distant p = 0.001) as significant prognostic factors in this cohort of patients. Conclusion BCs causing CS are characterized by a high rate of lymph-nodal involvement, a suboptimal prognosis (5-year survival = 60%, 66% in TCs) and a remarkable risk of relapse even after radical resection. Advanced stage, lymph-nodal involvement and the persisting of the CS after treatment correlate with a poor prognosis. PMID:26220696

  6. Congenital (infantile) pseudarthrosis of the fibula associated with osteofibrous dysplasia

    International Nuclear Information System (INIS)

    We describe a recently noted association of congenital (infantile) pseudarthrosis of the lower leg with osteofibrous dysplasia. The patient was a 2-year-old boy who presented with a deformed left ankle joint and three cutaneous cafe-au-lait spots. Radiography demonstrated pseudarthrosis of the left distal fibula and a round lucent lesion adjacent to the proximal part of the pseudarthrosis. Histologically, the surgically removed fibula with pseudarthrosis showed a fibromatosis-like fibrovascular proliferation and nonspecific reparative changes. The focal lucent area demonstrated a fibro-osseous lesion, which was histologically identical to osteofibrous dysplasia. This case provides further evidence that osteofibrous dysplasia may be associated with congenital (infantile) pseudarthrosis of the lower leg. (orig.)

  7. Pelvic orientation and assessment of hip dysplasia in adults

    DEFF Research Database (Denmark)

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

    2004-01-01

    on the measurements of radiographic indices of hip dysplasia. MATERIAL AND METHODS: We investigated the effect of varying pelvic orientation on radiographic measurements of acetabular dysplasia using a cadaver model. Results from the cadaver study were used to validate the radiographic assessments of...... pelvic radiograph was recorded at each 3 degrees increment. The most widely used radiographic parameters of hip dysplasia were assessed. 2) Critical limits of acceptable rotation and inclination/reclination of pelvises were determined on 4151 standing, standardised pelvic radiographs of the CCHS cohort......BACKGROUND: The study was performed to qualify the source material of 4151 pelvic radiographs for the research into the relationship between unrecognised childhood hip disorders and the development of hip osteoarthrosis, and to investigate the effect of varying degrees of pelvic tilt and rotation...

  8. 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.

  9. 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.

  10. 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.

  11. 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

  12. Pelvic orientation and assessment of hip dysplasia in adults

    DEFF Research Database (Denmark)

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

    2004-01-01

    on the measurements of radiographic indices of hip dysplasia. MATERIAL AND METHODS: We investigated the effect of varying pelvic orientation on radiographic measurements of acetabular dysplasia using a cadaver model. Results from the cadaver study were used to validate the radiographic assessments of acetabular...... radiograph was recorded at each 3 degrees increment. The most widely used radiographic parameters of hip dysplasia were assessed. 2) Critical limits of acceptable rotation and inclination/reclination of pelvises were determined on 4151 standing, standardised pelvic radiographs of the CCHS cohort. RESULTS......BACKGROUND: The study was performed to qualify the source material of 4151 pelvic radiographs for the research into the relationship between unrecognised childhood hip disorders and the development of hip osteoarthrosis, and to investigate the effect of varying degrees of pelvic tilt and rotation...

  13. CASE REPORT OF SPONDYLOEPIPHYSEAL DYSPLASIA SECONDARY TO CONGINETAL HYPOTHYROIDISM

    Directory of Open Access Journals (Sweden)

    Jhatoth

    2014-07-01

    Full Text Available BACKGROUND: Spondyloepiphyseal dysplasia as a sign of untreated congenital hypothyroidism is rare nowadays due to implementation of neonatal screening and increased awareness of pediatricians to detect hypothyroidism earlier. But neonatal screening is not routinely done in the developing countries. Congenital hypothyroidism is still unrecognized in some parts of developing world. OBJECTIVE: To describe the clinical, radiographic features and to stress the importance of screening of hypothyroidism during infancy and childhood and its current management. METHODS: Detailed history, physical examination and investigations. CONCLUSION: This report underscores the importance of detailed family history and physical examination in the diagnosis of spondyloepiphyseal dysplasia due to untreated congenital hypothyroidism, which was not screened for hypothyroidism during neonatal life. Being a treatable cause, hypothyroidism should always be considered as differential diagnosis of spondyloepiphyseal dysplasia, especially if the patient belongs to the developing world.

  14. 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.)

  15. Canine Hip Dysplasia is Predictable by Genotyping

    Science.gov (United States)

    Guo, Gang; Zhou, Zhengkui; Wang, Yachun; Zhao, Keyan; Zhu, Lan; Lust, George; Hunter, Linda; Friedenberg, Steven; Li, Junya; Zhang, Yuan; Harris, Stephen; Jones, Paul; Sandler, Jody; Krotscheck, Ursula; Todhunter, Rory; Zhang, Zhiwu

    2011-01-01

    Summary Objective To establish a predictive method using whole genome genotyping for early intervention in canine hip dysplasia (CHD) risk management, for the prevention of the progression of secondary osteoarthritis (OA), and for selective breeding. Design Two sets of dogs (6 breeds) were genotyped with dense SNPs covering the entire canine genome. The first set contained 359 dogs upon which a predictive formula for genomic breeding value (GBV) was derived by using their estimated breeding value (EBV) of the Norberg angle (a measure of CHD) and their genotypes. To investigate how well the formula would work for an individual dog with genotype only (without using EBV or phenotype), a cross validation was performed by masking the EBV of one dog at a time. The genomic data and the EBV of the remaining dogs were used to predict the GBV for the single dog that was left out. The second set of dogs included 38 new Labrador retriever dogs, which had no pedigree relationship to the dogs in the first set. Results The cross validation showed a strong correlation (r>0.7) between the EBV and the GBV. The independent validation showed a strong correlation (r=0.5) between GBV for the Norberg angle and the observed Norberg angle (no EBV was available for the new 38 dogs). Sensitivity, specificity, positive, and negative predictive value of the genomic data were all above 70%. Conclusions Prediction of CHD from genomic data is feasible, and can be applied for risk management of CHD and early selection for genetic improvement to reduce the prevalence of CHD in breeding programs. The prediction can be implemented before maturity, at which age current radiographic screening programs are traditionally applied, and as soon as DNA is available. PMID:21215318

  16. 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

  17. 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...

  18. 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.

  19. 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

  20. 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

  1. 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.

  2. Cranioplasty Using a Modified Split Calvarial Graft Technique in Cleidocranial Dysplasia.

    Science.gov (United States)

    Jung, Young Taek; Cho, Jae Ik; Lee, Sang Pyung

    2015-07-01

    Cleidocranial dysplasia is a well-documented rare autosomal dominant skeletal dysplasia characterized by hypoplastic/aplastic clavicles, brachycephalic skull, patent sutures and fontanelles, midface hypoplasia, and abnormalities of dentition. Patients with cleidocranial dysplasia often complain about undesirable esthetic appearance of their forehead and skull. Notwithstanding many studies of molecular, genetics and skeletal abnormalities of this congenial disorder, there have been very few written reports of cranioplasty involving cleidocranial dysplasia. Thus, we report a rare case of successful cranioplasty using a modified split calvarial graft technique in patient with cleidocranial dysplasia. PMID:26279819

  3. 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

  4. 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

  5. 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.)

  6. 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

  7. 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

  8. Histogenesis of retinal dysplasia in trisomy 13

    Directory of Open Access Journals (Sweden)

    Gonzalez-Fernandez Federico

    2007-12-01

    Full Text Available 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 structures. A detailed histopathological study of the ocular structures was performed. The expression of interphotoreceptor retinoid-binding protein (IRBP, cellular retinal-binding protein (CRALBP, rod opsin, and Sonic Hedgehog (Shh were studied by immunohistochemistry. Results Holoprosencephaly, and a spectrum of anatomical findings characteristic of Patau's syndrome, were found. Cytogenetic studies demonstrated trisomy 13 [47, XY, +13]. The eyes were fused but contained two developed separate lenses. In contrast, the cornea, and angle structures were hypoplastic, and the anterior chamber had failed to form. The retina showed areas of normally laminated neural retina, whereas in other areas it was replaced by numerous neuronal rosettes. Histological and immunohistochemical studies revealed that the rosettes were composed of differentiated retinal neurons and Müller cell glia. In normally laminated retina, Shh expression was restricted to retinal-ganglion cells, and to a population of neurons in the inner zone of the outer nuclear layer. In contrast, Shh could not be detected in the dysplastic rosettes. Conclusion The histopathology of cyclopia appears to be more complex than what may have been previously appreciated. In fact, the terms "cyclopia" and "synophthalmia" are misnomers as the underlying mechanism is a failure of the eyes to form separately during development. The rosettes found in the dysplastic retina are fundamentally different than those of

  9. 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.

  10. 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

  11. 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.

  12. 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

  13. 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.

  14. Caudal regression with sirenomelia and dysplasia renofacialis (Potter's syndrome)

    International Nuclear Information System (INIS)

    A case of caudal regression in combination with sirenomelia and dysplasia renofacialis (Potter's syndrome) is reported. The formal pathogenesis of these malformations and clinical facts are shown and discussed. Findings of plain films, postmortal angiography and pathologic-anatomical changes are demonstrated. (orig.)

  15. Craniofacial and temporal bone CT findings in cleidocranial dysplasia

    International Nuclear Information System (INIS)

    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.)

  16. 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

  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. The extracellular matrix and diffusion barriers in focal cortical dysplasias

    Czech Academy of Sciences Publication Activity Database

    Zámečník, J.; Homola, Aleš; Cicanič, Michal; Kuncová, K.; Marusič, P.; Kršek, P.; Syková, Eva; Vargová, Lýdia

    2012-01-01

    Roč. 36, č. 1 (2012), s. 2017-2024. ISSN 0953-816X R&D Projects: GA MŠk 1M0538 Grant ostatní: GA MZd(CZ) NS9915 Institutional research plan: CEZ:AV0Z50390512 Keywords : cortical dysplasia * diffusion * extrecellular space Subject RIV: FH - Neurology Impact factor: 3.753, year: 2012

  19. 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.

  20. Canine hip dysplasia: significance of early bony spurring

    International Nuclear Information System (INIS)

    It is the purpose of this study to call attention to new bone production that often occurs early in the sequence of pathological changes associated with canine hip dysplasia. New bone production extending to bony remodeling, as well as femoral head subluxation, both occur in the sequence of pathologic changes associated with canine hip dysplasia. Subluxation is considered primary, while osteoarthrosis is a secondary feature, and both are used in the diagnosis of canine hip dysplasia. This report concerns the significance of the presence of a solitary bony osteophyte, or spur, that is frequently evident on the caudal aspect of the femoral neck as viewed on the conventional ventrodorsal projection. This report utilizes findings from pelvic radiographs of 605 dogs (five breeds). There was a greater frequency (54%)of this bony change in cases diagnosed radiographically as dysplastic than in cases diagnosed as normal(15%).Thus, it is suggested that this minimal radiographic change can be used as an indicator of early canine hip dysplasia, especially in the absence of subluxation of the femoral head

  1. 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 1997-2006 and ...

  2. 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...

  3. 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

  4. 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.

  5. 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.

  6. 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

  7. Bilateral cystic dysplasia of the rete testis with renal adysplasia.

    Science.gov (United States)

    Bouron-Dal Soglio, Dorothée; Harvey, Isabelle; Jovanovic, Mubina; Oligny, Luc L; Fournet, Jean-Christophe

    2006-01-01

    Cystic dyplasia of the rete testis (CDRT) is an uncommon, generally unilateral lesion characterized by anastomosing cystic spaces lined by a flattened simple cuboidal epithelium in the rete testis. In the literature this lesion often is associated with an ipsilateral urogenital lesion such as renal agenesia or multicystic dysplasia of the kidney, in order of frequency. The pathogenesis is explained by some authors by their common embryologic origin. We are reporting the finding of bilateral CDRT associated with ultrasound-diagnosed renal adysplasia in a 20-week gestational age fetus with oligohydramnios. Although CDRT has been referred to as being associated with multicystic renal dysplasia or renal agenesis, the present case appears to be unique in combining all the malformations together. PMID:16822083

  8. 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...

  9. 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...

  10. 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...

  11. Two sibs who are double heterozygotes for achondroplasia and pseudoachondroplastic dysplasia.

    OpenAIRE

    Woods, C G; Rogers, J G; Mayne, V

    1994-01-01

    We report a family in which two sibs have both achondroplasia and pseudoachondroplastic dysplasia. The mother has achondroplasia and the father has pseudoachondroplastic dysplasia, which he had inherited from his father. Both children appeared typical of achondroplasia at birth. By 1 1/2 years they had developed a fixed lumbar kyphosis with gibbus and had additional x ray changes unusual for just achondroplasia and suggestive of pseudoachondroplastic dysplasia. Subsequently both children have...

  12. 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...

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

    OpenAIRE

    Vishnu Priya; Srivatsa,; Ramachandraprabakar,; Kamala Kannan; Dwaragesh

    2013-01-01

    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 impla...

  14. Septo-optic dysplasia plus: a case report

    OpenAIRE

    Zoric, Lepsa; Nikolic, Simon; Stojcic, Milan; Zoric, Dragana; Jakovljevic, Sinisa

    2014-01-01

    Background Septo-optic dysplasia, also referred to as de Morsier syndrome, is a congenital condition characterized by classic triad features: midline brain abnormalities, optic nerve hypoplasia and pituitary endocrine dysfunction. Sometimes, other various malformations appear within syndrome. Case presentation An 11 and 1/2-year-old Caucasian Southeast European female patient with earlier established diagnoses of growth hormone deficiency, diabetes insipidus, seizures, mental retardation, opt...

  15. 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

  16. 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...

  17. 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...

  18. 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...

  19. 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.

  20. 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...

  1. Renal-hepatic-pancreatic dysplasia: an autosomal recessive malformation.

    OpenAIRE

    Torra, R.; Alós, L.; Ramos, J.; Estivill, X

    1996-01-01

    We report two brothers with a cystic malformation of the kidneys, liver, and pancreas. In both cases the malformation was fatal and the children died shortly after birth. The pathological findings, consisting of multicystic dysplastic kidneys, dilated and dysgenetic bile ducts, dilated pancreatic ducts, and polysplenia, correspond to those reported by Ivemark as renal-hepatic-pancreatic dysplasia. Many polymalformation syndromes include cystic affectation of these three organs, so this syndro...

  2. 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...

  3. 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.

  4. 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.

  5. Complex dental anomalies in a belatedly diagnosed cleidocranial dysplasia patient

    OpenAIRE

    Lu, Hui; Zeng, Binghui; Yu, Dongsheng; Jing, Xiangyi; Hu, Bin; ZHAO Wei; Wang, Yiming

    2015-01-01

    Cleidocranial dysplasia (CCD) is a rare congenital disorder, typically characterized by persistently open skull sutures, aplastic or hypoplastic clavicles, and supernumerary teeth. Mutations in the gene encoding the runt-related transcription factor 2 (RUNX2) protein are responsible for approximately two thirds of CCD patients. We report a 20-year-old CCD patient presenting not only with typical skeletal changes, but also complex dental anomalies. A previously undiagnosed odontoma, 14 supernu...

  6. Bilateral macular dysplasia ('colobomata') and congenital retinal dystrophy.

    OpenAIRE

    Moore, A T; Taylor, D. S.; Harden, A

    1985-01-01

    Three unrelated patients with bilateral macular dysplasia ('colobomata') with no relevant family history were found to have absent or substantially abnormal electroretinograms, implying that there was an associated retinal dystrophy. This may suggest that the macular lesions are associated with a global failure of retinal development, with a regional preponderance rather than a purely localised cause such as an intrauterine infection. It is important to distinguish between congenital infectio...

  7. The role of the acetabular labrum in hip dysplasia. A literature overview

    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...... 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 labral anatomy and function, the etiology of labral tears in hip dysplasia, and diagnostic assessment of...... labral tears, and we discuss treatment strategies for coexisting labral tears and hip dysplasia....

  8. Chronic renal failure due to unilateral renal agenesis and total renal dysplasia (=aplasia)

    International Nuclear Information System (INIS)

    Three adult patients with unilateral renal agenesis/total dysplasia (= aplasia) and with an early chronic renal failure are presented. One patient had renal agenesis without ureter bud and ureteric ostium on one side, and reflux pyelonephritis on the other; one had small compact total renal dysplasia (= aplasia) on one side, while chronic uric acid nephropathy (chronic renal disease as a cause of gout) was diagnosed on the other; the third patient had a total large multicystic dysplasia on one side, and on the other a segmental large multicystic dysplasia. Radiological steps and radiodiagnostic criteria are discussed and the combination of urogenital and extraurogenital anomalies is referred to. (orig.)

  9. Chronic renal failure due to unilateral renal agenesis and total renal dysplasia (=aplasia)

    Energy Technology Data Exchange (ETDEWEB)

    Kroepelin, T.; Ziupa, J.; Wimmer, B.

    1983-05-01

    Three adult patients with unilateral renal agenesis/total dysplasia (= aplasia) and with an early chronic renal failure are presented. One patient had renal agenesis without ureter bud and ureteric ostium on one side, and reflux pyelonephritis on the other; one had small compact total renal dysplasia (= aplasia) on one side, while chronic uric acid nephropathy (chronic renal disease as a cause of gout) was diagnosed on the other; the third patient had a total large multicystic dysplasia on one side, and on the other a segmental large multicystic dysplasia. Radiological steps and radiodiagnostic criteria are discussed and the combination of urogenital and extraurogenital anomalies is referred to.

  10. Age incidence and site distribution of mammary dysplasias in young beagle bitches

    Energy Technology Data Exchange (ETDEWEB)

    Warner, M.R.

    1976-07-01

    The age incidence and site distribution of 2,142 mammary dysplasias were documented for 39 beagle bitches 6 months to 4 years of age. Lesion onset was at 2-3 years of age, at which time more than 50 percent of the females had dysplasias. Dysplasias appeared before palpable tumors. Posterior mammae developed more lesions than did anterior mammae. Thus the gradient for early onset of lesions coincided with the gradient for tumor frequency reported previously; a preneoplastic potential is suggested for (some) dysplasias. Problems of defining normal tissue are discussed.

  11. 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.

  12. Identification of quantitative trait loci (QTL) for canine hip dysplasia and canine elbow dysplasia in Bernese mountain dogs.

    Science.gov (United States)

    Pfahler, Sophia; Distl, Ottmar

    2012-01-01

    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. PMID:23189162

  13. 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.)

  14. 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.)

  15. Establishment of the Certification System "Gynaecological Dysplasia" in Germany.

    Science.gov (United States)

    Beckmann, M W; Quaas, J; Bischofberger, A; Kämmerle, A; Lux, M P; Wesselmann, S

    2014-09-01

    Gynaecological cancer centres have been established nationwide in Germany since 2008 according to the certification system of the German Cancer Society (Deutsche Krebsgesellschaft e. V. [DKG]) and the German Society for Gynaecology and Obstetrics (Deutsche Gesellschaft für Gynäkologie und Geburtshilfe e. V. [DGGG]). However, patient access to the certified gynaecological cancer centres is currently only possible through direct referrals. A longitudinal structure with the corresponding long-term documentation of both the high-grade precursors as well as the cancers does not exist as yet. According to the aims of the National Cancer Plan, a corresponding structure for the cancer entity "cervix carcinoma" should be established. The foundations for such a structure are appropriate diagnostic units that are responsible, after nationwide screening, for clarification according to guideline-conform principles. On the basis of the vote of the certification commission for gynaecological cancer centres under the chairmanship of the DKG, the Working Group for Gynaecological Oncology (Arbeitsgemeinschaft Gynäkologische Onkologie e. V. [AGO]), the Committee on Cervical Pathology and Colposcopy (Arbeitsgemeinschaft Zervixpathologie & Kolposkopie [AG-CPC]) and the DGGG the certification system for gynaecological dysplasia has been established. As a general principle, a distinction is made between the certification of a consulting practice for gynaecological dysplasia and a gynaecological dysplasia facility in order to integrate both outpatient and inpatient health-care facilities into the certification system. In analogy to the further catalogue of requirements from the DKG, quantitative and qualitative minimum numbers are demanded. Furthermore, the requirements of the certification process include a summary of patient information, the applied guidelines, continuing and further training, interdisciplinary cooperation in tumour boards, contents or, respectively, procedure

  16. Mutation in WNT10A is associated with an autosomal recessive ectodermal dysplasia: the odonto-onycho-dermal dysplasia.

    Science.gov (United States)

    Adaimy, Lynn; Chouery, Eliane; Megarbane, Hala; Mroueh, Salman; Delague, Valerie; Nicolas, Elsa; Belguith, Hanen; de Mazancourt, Philippe; Megarbane, Andre

    2007-10-01

    Odonto-onycho-dermal dysplasia is a rare autosomal recessive syndrome in which the presenting phenotype is dry hair, severe hypodontia, smooth tongue with marked reduction of fungiform and filiform papillae, onychodysplasia, keratoderma and hyperhidrosis of palms and soles, and hyperkeratosis of the skin. We studied three consanguineous Lebanese Muslim Shiite families that included six individuals affected with odonto-onycho-dermal dysplasia. Using a homozygosity-mapping strategy, we assigned the disease locus to an ~9-cM region at chromosome 2q35-q36.2, located between markers rs16853834 and D2S353, with a maximum multipoint LOD score of 5.7. Screening of candidate genes in this region led us to identify the same c.697G-->T (p.Glu233X) homozygous nonsense mutation in exon 3 of the WNT10A gene in all patients. At the protein level, the mutation is predicted to result in a premature truncated protein of 232 aa instead of 417 aa. This is the first report to our knowledge of a human phenotype resulting from a mutation in WNT10A, and it is the first demonstration of an ectodermal dysplasia caused by an altered WNT signaling pathway, expanding the list of WNT-related diseases. PMID:17847007

  17. 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...

  18. Novel COL9A3 mutation in a family diagnosed with multiple epiphyseal dysplasia: a case report

    OpenAIRE

    Jeong, Changhoon; Lee, Jae Young; Kim, Jiyeon; Chae, Hyojin; Park, Hae-il; Kim, Myungshin; Kim, Ok-Hwa; Kim, Paul; Lee, Young Kee; Jung, Jongsun

    2014-01-01

    Background Multiple epiphyseal dysplasia is a common skeletal dysplasia characterized by mild short stature, early-onset osteoarthritis mainly involving the hip and knee joints, and abnormally small and/or irregular epiphyses. Multiple epiphyseal dysplasia is clinically and genetically heterogeneous and six genes are associated with the phenotype of multiple epiphyseal dysplasia. Case presentation A 12-year-old Korean boy presented with intermittent knee pain. His height was 144.6 cm (20th pe...

  19. 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

  20. 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.

  1. Fibrous dysplasia associated with intramuscular myxoma(mazabraud's syndrome) : a case report

    International Nuclear Information System (INIS)

    Mazabraud's syndrome, the etiology of which is unknown, is a rare benign disease, characterized by the association of intramuscular myxoma and fibrous dysplasia of bone, usually polyostotic. We describe a case of Mazabraud's syndrome in which with two intramuscular myxomas of the forearm were associated with polyostotic fibrous dysplasia

  2. 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

  3. 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

  4. Spontaneous vertebro-vertebral arterio-venous fistula associated with fibro-muscular dysplasia

    International Nuclear Information System (INIS)

    Extracranial vertebral arteriovenous fistulae of non traumatic origin are extremly rare. The authors report two cases of spontaneous vertebro-vertebral arteriovenous fistulae associated with fibromuscular dysplasia. They discuss the relation-ship between arteriovenous fistulae and fibro-muscular dysplasia, and the specific problems of treatment in these two cases. (orig.)

  5. GENERAL ANAESTHESIA FOR A CHILD WITH CLEIDOCRANIAL DYSPLASIA: A CASE REPORT

    OpenAIRE

    Sangeetha; Kevin Koshy; Shabna; Mangesh

    2014-01-01

    We present a case of a child with Cleidocranial Dysplasia (CD) undergoing multiple teeth extraction. This is an autosomal dominant skeletal dysplasia characterized by developmental abnormalities of bony structures such as supernumerary teeth, brachycephalic skull, short stature and hypoplastic or aplastic clavicles. These structural abnormalities may pose challenges to anaesthetic management. However, there are only limited literatures describing anaesthetic implications o...

  6. 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....

  7. 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...

  8. 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

  9. 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

  10. 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......, and some of these were the focus of this doctoral thesis. Categorized into subjects, the major findings and their possible importance are listed below. DIAGNOSTIC ASSESSMENT OF HIP DYSPLASIA: A multi-observer study quantified the variability of different methods for diagnostic assessment of hip dysplasia...... and osteoarthritis and resulted in general recommendations regarding diagnostic assessment of hip dysplasia. Pelvic tilt was shown to differ significantly between the supine and weight-bearing positions in patients with dysplastic hip joints. This is a finding that adds controversy to the application of neutral...

  11. 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

  12. 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.)

  13. Cortical dysplasia : MRI findings according to the pathological grading

    Energy Technology Data Exchange (ETDEWEB)

    Chung, Gyung Ho; Sohn, Myung Hee; Kim, Chong Soo; Kim, Hyoung Ihl; Lee, Min Chul [Chonbuk National University, Chonju (Korea, Republic of)

    1998-05-01

    The purpose of this study is to describe the MRI findings of cortical dysplasia (CD) according to pathological grading. MRI findings in 24 patients with pathologically proven CD were retrospectively reviewed and were described according to their histologic grading. The group consisted of 11 men and 13 women, and their median age was 21.4 (range, 5 to 41) years. Histologic findings were assigned one of three grades : Grade I (dyslamination of cortical layers only) ; Grade II (additional dysplastic neurons); or Grade III (additional balloon cells). T1 and T2W spin-echo MR images were obtained and were evaluated with specific reference to detection rate, location of the anomaly, the presence or absence of prolonged T2 relaxation in the underlying white matter, and configuration of the dysplastic cortex. Nine patients were found to be suffering from grade I CD, seven from grade II, and eight from grade III. MRI findings were abnormal in 58% of cases (14/24); three of these were grade I, four were grade II, and seven were grade III. Among these 14 patients, four had the lesion in the frontal lobe; five, in the temporal lobe; one, in the parietal lobe; two, in the sylvian fissure area, and two with tuberous sclerosis and multiple lesions. Of twelve patients with cortical dysplasia other than tuberous sclerosis, as seen on MRI, six showed poor gray-white matter differentiation, and six showed cortical thickening; this ranged from 7-10 mm in thickness with irregular, bumpy cortical surfaces. Areas of prolonged T2 relaxation in the underlying white matter were present in six patients. MRI findings were abnormal in 58 % of CD patients. The higher the pathological grading, the higher the detection rate of CD on MRI. To increase the detectability of slight cortical dysplasia, technical development, including new MR sequences or imaging methods, is needed (author). 21 refs., 5 figs.

  14. 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.

  15. 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

  16. 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...

  17. 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

  18. 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...

  19. 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.

  20. Frequency and asymmetry of hip dysplasia in German Shepherd dog

    International Nuclear Information System (INIS)

    A study of frequency and asymmetry of hip dysplasia was carried out using 181 X-rays plates of German Shepherd dogs, both males and females, from June 1986 to March 1993. The X-ray plates were taken with the animals on the ventrodorsal position, with the limbs parallel and the pelvis symmetric. The average age of the dogs was 16.6 months. Results showed 72.4% of dysplastic dogs, being 5.3% unilateral, 89.4% bilateral simmetric and 5.3% bilateral asymmetric. (author)