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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. 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.

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

    DEFF Research Database (Denmark)

    Verder, Henrik; Bohlin, Kajsa; Kamper, Jens

    2009-01-01

    The Scandinavian approach is an effective combined treatment for respiratory distress syndrome (RDS) and prevention of bronchopulmonary dysplasia (BPD). It is composed of many individual parts. Of significant importance is the early treatment with nasal continuous positive airway pressure (n...

  4. 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

  5. HYPERTROPHIC OBSTRUCTIVE CARDIOMYOPATHY AS A SIDE-EFFECT OF DEXAMETHASONE TREATMENT FOR BRONCHOPULMONARY DYSPLASIA

    NARCIS (Netherlands)

    BRAND, PLP; VANLINGEN, RA; BRUS, F; TALSMA, MD; ELZENGA, NJ

    1993-01-01

    We report three infants who developed hypertrophic obstructive cardiomyopathy during dexamethasone treatment for bronchopulmonary dysplasia. In all three infants, echocardiography had ruled out cardiac abnormalities prior to the dexamethasone course. The hypertrophic obstructive cardiomyopathy appea

  6. 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.

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

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    Piersigilli, Fiammetta; Bhandari, Vineet

    2016-01-01

    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.

  8. Circulating Fibrocytes Are Increased in Neonates with Bronchopulmonary Dysplasia

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    Li, Chun; Li, Xiaoyu; Deng, Chun; Guo, Chunbao

    2016-01-01

    Background Bronchopulmonary dysplasia (BPD) is characterized by the aberrant remodeling of the lung parenchyma, resulting from accumulation of fibroblasts or myofibroblasts. Circulating fibrocytes are implied in pulmonary fibrosis, but whether these cells are associated with the development of BPD or the progressive fibrosis is unknown. The aim of the present study was to investigate the occurrence of fibrocytes in peripheral venous blood and explore whether these cells might be associated with severity of BPD. Methods We investigated circulating fibrocytes in 66 patients with BPD, 23 patients with acute respiratory distress syndrome(ARDS) and 11 normal subjects. Circulating fibrocytes were defined and quantified as cells positive for CD45 andcollagen-1 by flow cytometry. Furthermore, serum SDF-1/CXCL12 and TGF-β1 were evaluated using ELISA methods. We also investigated the clinical value of fibrocyte counts by comparison with standard clinical parameters. Results The patients with BPD had significantly increased numbers of fibrocytes compared to the controls (p fibrocytes and pulmonary hypertension or oxygen saturation (p Fibrocyte numbers were not correlated with other clinical or functional variables or radiologic severity scores. The fibrocyte attractant chemokine CXCL12 increased in plasma (p fibrocytes are increased in patients with BPD and may contribute to pulmonary fibrosis in BPD. Circulating fibrocytes, likely recruited through the CXCR4/CXCL12 axis, might contribute to the production of TGF-β1 for the expansion of fibroblast/myofibroblast population in BPD. PMID:27309347

  9. 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.

  10. 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

    2016-04-15

    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.

  11. 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.

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

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    Chun Li

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

  13. 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.

  14. Inhaled nitric oxide for prevention of bronchopulmonary dysplasia in premature babies (EUNO) : a randomised controlled trial

    NARCIS (Netherlands)

    Mercier, Jean-Christophe; Hummler, Helmut; Durrmeyer, Xavier; Sanchez-Luna, Manuel; Carnielli, Virgilio; Field, David; Greenough, Anne; Van Overmeire, Bart; Jonsson, Baldvin; Hallman, Mikko; Baldassarre, James

    2010-01-01

    Background In animal models, inhaled nitric oxide improved gas exchange and lung structural development, but its use in premature infants at risk of developing bronchopulmonary dysplasia remains controversial. We therefore tested the hypothesis that inhaled nitric oxide at a low concentration, start

  15. Development of Sucking Patterns in Pre-Term Infants with Bronchopulmonary Dysplasia

    NARCIS (Netherlands)

    da Costa, Saakje P.; van der Schans, Cees P.; Zweens, Mar J.; Boelema, Sarai R.; van der Meij, Eva; Boerman, Mieke A.; Bos, Arend F.

    2010-01-01

    Background: Pre-term infants with bronchopulmonary dysplasia (BPD) are at risk of acquiring brain abnormalities. Combined with ongoing breathing difficulties, this may influence the development of their sucking patterns. Objective: To determine the longitudinal development of sucking patterns from b

  16. Bombesin-like peptide mediates lung injury in a baboon model of bronchopulmonary dysplasia

    NARCIS (Netherlands)

    Sunday, ME; Yoder, BA; Cuttitta, F; Haley, KJ; Emanuel, RL

    1998-01-01

    The etiology of bronchopulmonary dysplasia (BPD), a chronic lung disease of infants surviving respiratory distress syndrome, remains fundamentally enigmatic. BPD is decreasing in severity but continues to be a major problem in pediatric medicine, being especially prevalent among very premature infan

  17. INFANTILE CHOREA IN AN INFANT WITH SEVERE BRONCHOPULMONARY DYSPLASIA - AN EMG STUDY

    NARCIS (Netherlands)

    HADDERSALGRA, M; BOS, AF; MARTIJN, A; PRECHTL, HFR

    1994-01-01

    Recently a new movement disorder has been described which develops in some preterm infants with bronchopulmonary dysplasia. The present report provides a detailed description (including polyelectromyographical and serial cranial ultrasound findings) of this syndrome in a single infant. The authors s

  18. Transcriptome analysis in preterm infants developing bronchopulmonary dysplasia : data processing and statistical analysis of microarray data

    OpenAIRE

    2015-01-01

    Bronchopulmonary dysplasia is one of the most common chronic lung diseases and contributes greatly to morbidity of preterm infants. While moderate and severe forms of BPD are the most common forms under investigation little is known about the development of mild BPD. The aim of this work is to identify mechanisms and biomarkers, which make it possible to predict at birth whether a preterm infant is prone to develop no BPD, mild BPD, or a stronger form of BPD. Transcriptome and in particula...

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

    OpenAIRE

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

    2015-01-01

    A Clinical Scoring System to Predict the Development of Bronchopulmonary Dysplasia Tugba Gursoy, MD1 Mutlu Hayran, MD2 Hatice Derin, MD3 Fahri Ovali, MD3 1Department of Neonatology, School of Medicine, KOC University, Istanbul, Turkey 2Department of Preventive Oncology, Faculty of Medicine, Hacettepe University, Ankara, Turkey 3Department of Pediatrics, Zeynep Kamil Maternity and Children’s Research and Training Hospital, Istanbul, Turkey 4Department of Neonatology,...

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

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    Mann Christian

    2011-09-01

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

  1. Rib enlargement in premature infants with bronchopulmonary dysplasia

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

    2000-04-01

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

  2. [Longitudinal study of children with bronchopulmonary dysplasia treated with disodium cromoglycate].

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    Kassur-Siemieńska, Barbara; Milewska-Bobula, Bogumiła; Dmeńska, Hanna; Idzik, Mirosława; Bauer, Anna; Marciński, Paweł; Dunin-Wasowicz, Dorota; Lipka, Bozena

    2003-01-01

    In order to improve the quality of life of children born prematurely, who developed chronic lung disease, clinical trials of drugs of different origin are undertaken. The aim of the work was the evaluation of the efficacy of disodium cromoglycate in the treatment of bronchopulmonary dysplasia in children. We retrospectively studied 15 infants with bronchopulmonary dysplasia (BPD) hospitalised in the Infant Care Department of Children's Health Memorial Institute from 01.01.1997 to 01.02.2000. All babies were premature (25-30 weeks of gestation) with LBW or VLBW A control group of 11 babies with BPD, matched for birth weight and gestational age, who did not have disodium cromoglycate therapy were also studied. Recurrent obturative bronchitis and bronchial hyperresponsiveness were stated in all cases in both groups. Disodium cromoglycate was administered in all babies in the study group. Inhaled corticosteroid (Budesonide mite) was given in 10 cases, for a short period of time, due to severe obturative bronchitis. Babies in the control group were treated with systemic and inhaled corticosteroids. Results of our trial compared with the log-rank and chi2 test show statistically, significant differences in the regression of obturative bronchitis (log-rank = 4.35, p < 0.0001) and normalization of capillary blood-gas examination (log-rank = 3.777, p < 0.0002) in favour of the studied group, treated with disodium cromoglycate.

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

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    Narendra R. Dereddy

    2015-10-01

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

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

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    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.

  5. Definition and outpatient management of the very low-birth-weight infant with bronchopulmonary dysplasia.

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    Groothuis, Jessie R; Makari, Doris

    2012-04-01

    Bronchopulmonary dysplasia (BPD), also known as chronic lung disease of prematurity, is the major cause of pulmonary disease in infants. The pathophysiology and management of BPD have evolved over the past four decades as improved neonatal intensive care unit (NICU) modalities have increased survival rates. The likelihood for developing BPD increases with the degree of prematurity and reaches 25-35% in very low-birth-weight and extremely low-birth-weight infants. BPD affects many organ systems, and infants with BPD are at increased risk for rehospitalization and numerous complications following NICU discharge. The management of BPD and medically related problems, particularly during the first 2 years of life, remains a continuing challenge for parents and healthcare providers. It is important that a multidisciplinary team consisting of the neonatologist/attending physician, primary care physician, and other specialized support staff work in concert and meet regularly to provide continuity of care and accurate patient assessments.

  6. 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.

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

    NARCIS (Netherlands)

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

    2011-01-01

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

  8. A new look at bronchopulmonary dysplasia: postcapillary pathophysiology and cardiac dysfunction

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    Malikiwi, Andra; Paul, Eldho; Tan, Kenneth; Menahem, Samuel

    2016-01-01

    Abstract Pulmonary hypertension (PH) and right ventricular function are the focus of cardiovascular effects of bronchopulmonary dysplasia (BPD). We assessed cardiac indexes reflecting systemic afterload and pulmonary venous back pressure as pathophysiologic factors. Cardiac parameters were measured by conventional echocardiography in 20 preterm infants with severe BPD and compared with those of 10 preterm infants with no BPD and 20 healthy term infants. In infants with severe BPD, PH was noted in 5 (25%) by tricuspid regurgitation Doppler jet ≥2.8 m/s and in 15 (75%) by time to peak velocity/right ventricular ejection time valve stroke volume (4.7 ± 0.7 vs. 5.6 ± 0.6 vs. 5.9 ± 0.1; P = 0.002), and myocardial performance index (0.33 ± 0.05 vs. 0.28 ± 0.01 vs. 0.27 ± 0.05; P = 0.03). Left ventricular output was significantly lower in the BPD cohort (183 ± 45 vs. 189 ± 9 vs. 191 ± 32 mL/kg/min; P = 0.03). Altered systemic (left-sided) cardiac function was noted in infants with BPD, which may lead to pulmonary venous congestion contributing to a continued need for respiratory support. PMID:28090292

  9. Stem cells and their mediators – next generation therapy for bronchopulmonary dysplasia

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    Marius Alexander Möbius

    2015-07-01

    Full Text Available Bronchopulmonary dysplasia (BPD remains a major complication of premature birth. Despite great achievements in perinatal medicine over the past decades, there is no treatment for BPD. Recent insights into the biology of stem/progenitor cells have ignited the hope of regenerating damaged organs. Animal experiments revealed promising lung protection/regeneration with stem/progenitor cells in experimental models of BPD and led to first clinical studies in infants. However, these therapies are still experimental and knowledge on the exact mechanisms of action of these cells is limited. Furthermore, heterogeneity of the therapeutic cell populations and missing potency assays limit currently our ability to predict a cell product’s efficacy. In here, we review the therapeutic potential of mesenchymal stromal, endothelial progenitor and amniotic epithelial cells for BPD. Current knowledge on the mechanisms behind the beneficial effects of stem cells is briefly summarized. Finally, we discuss the obstacles constraining their transition from bench to bedside and present potential approaches to overcome them.

  10. Ureaplasma in lung. 2. Association with bronchopulmonary dysplasia in premature newborns.

    Science.gov (United States)

    Benstein, Barbara D; Crouse, Dennis T; Shanklin, D Radford; Ourth, Donald D

    2003-10-01

    Infants with Ureaplasma urealyticum in the lower respiratory tract are at risk for chronic lung disease (CLD) or bronchopulmonary dysplasia (BPD) but causality has been difficult to prove. The goal of this study was to identify ureaplasma in human neonatal lung tissue using the in situ hybridization (ISH) procedure described in Part 1 (Exp. Mol. Pathol., in press) of this report. By correlating their presence with the histopathologic findings, it may be possible to provide further evidence of the pathogenicity of ureaplasmas and their association with BPD. Lung autopsy tissue from seven infants with positive cultures and seven infants with negative cultures for ureaplasma were included in the study. All culture-positive infants were positive for ureaplasma on ISH and all had histopathologic evidence of BPD. Two of the seven infants with negative cultures were positive for ureaplasma with ISH. Of interest, these two infants were also found to have BPD at autopsy. The other five infants with negative cultures were also negative for ureaplasma on ISH and had no evidence of BPD. This study correlates the presence of U. urealyticum by ISH with the finding of BPD on histopathologic evaluation and provides evidence that it has a role in the development of CLD.

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

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    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.

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

    Energy Technology Data Exchange (ETDEWEB)

    Soler, C. [Neonatal Unit, Dept. of Pediatrics, Casa Maternitat Hospital, Clinical Hospital and Sant Joan de Deu Hospital, Univ. of Barcelona (Spain); Figueras, J. [Neonatal Unit, Dept. of Pediatrics, Casa Maternitat Hospital, Clinical Hospital and Sant Joan de Deu Hospital, Univ. of Barcelona (Spain)]|[Servicio de Neonatologia, Hospital Clinico, Barcelona (Spain); Roca, I. [Nuclear Medicine Unit, Autonomous Univ. of Barcelona (Spain); Perez, J.M. [Neonatal Unit, Dept. of Pediatrics, Casa Maternitat Hospital, Clinical Hospital and Sant Joan de Deu Hospital, Univ. of Barcelona (Spain); Jimenez, R. [Neonatal Unit, Dept. of Pediatrics, Casa Maternitat Hospital, Clinical Hospital and Sant Joan de Deu Hospital, Univ. of Barcelona (Spain)

    1997-01-01

    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.

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

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    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.

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

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    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.

  15. Bronchopulmonary Dysplasia: Chronic Lung Disease of Infancy and Long-Term Pulmonary Outcomes

    Science.gov (United States)

    Davidson, Lauren M.; Berkelhamer, Sara K.

    2017-01-01

    Bronchopulmonary dysplasia (BPD) is a chronic lung disease most commonly seen in premature infants who required mechanical ventilation and oxygen therapy for acute respiratory distress. While advances in neonatal care have resulted in improved survival rates of premature infants, limited progress has been made in reducing rates of BPD. Lack of progress may in part be attributed to the limited therapeutic options available for prevention and treatment of BPD. Several lung-protective strategies have been shown to reduce risks, including use of non-invasive support, as well as early extubation and volume ventilation when intubation is required. These approaches, along with optimal nutrition and medical therapy, decrease risk of BPD; however, impacts on long-term outcomes are poorly defined. Characterization of late outcomes remain a challenge as rapid advances in medical management result in current adult BPD survivors representing outdated neonatal care. While pulmonary disease improves with growth, long-term follow-up studies raise concerns for persistent pulmonary dysfunction; asthma-like symptoms and exercise intolerance in young adults after BPD. Abnormal ventilatory responses and pulmonary hypertension can further complicate disease. These pulmonary morbidities, combined with environmental and infectious exposures, may result in significant long-term pulmonary sequalae and represent a growing burden on health systems. Additional longitudinal studies are needed to determine outcomes beyond the second decade, and define risk factors and optimal treatment for late sequalae of disease. PMID:28067830

  16. Animal models of bronchopulmonary dysplasia. The preterm and term rabbit models.

    Science.gov (United States)

    D'Angio, Carl T; Ryan, Rita M

    2014-12-15

    Bronchopulmonary dysplasia (BPD) is an important lung developmental pathophysiology that affects many premature infants each year. Newborn animal models employing both premature and term animals have been used over the years to study various components of BPD. This review describes some of the neonatal rabbit studies that have contributed to the understanding of BPD, including those using term newborn hyperoxia exposure models, premature hyperoxia models, and a term newborn hyperoxia model with recovery in moderate hyperoxia, all designed to emulate aspects of BPD in human infants. Some investigators perturbed these models to include exposure to neonatal infection/inflammation or postnatal malnutrition. The similarities to lung injury in human premature infants include an acute inflammatory response with the production of cytokines, chemokines, and growth factors that have been implicated in human disease, abnormal pulmonary function, disordered lung architecture, and alveolar simplification, development of fibrosis, and abnormal vascular growth factor expression. Neonatal rabbit models have the drawback of limited access to reagents as well as the lack of readily available transgenic models but, unlike smaller rodent models, are able to be manipulated easily and are significantly less expensive than larger animal models.

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

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    Dong Jie

    2012-05-01

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

  18. Posttranslational modification of β-catenin is associated with pathogenic fibroblastic changes in bronchopulmonary dysplasia.

    Science.gov (United States)

    Sucre, Jennifer M S; Vijayaraj, Preethi; Aros, Cody J; Wilkinson, Dan; Paul, Manash; Dunn, Bruce; Guttentag, Susan H; Gomperts, Brigitte N

    2017-02-01

    Bronchopulmonary dysplasia (BPD) is a common complication of premature birth. The histopathology of BPD is characterized by an arrest of alveolarization with fibroblast activation. The Wnt/β-catenin signaling pathway is important in early lung development. When Wnt signaling is active, phosphorylation of β-catenin by tyrosine kinases at activating sites, specifically at tyrosine 489 (Y489), correlates with nuclear localization of β-catenin. We examined fetal lung tissue, lung tissue from term newborns, and lung tissue from infants who died with BPD; we found nuclear β-catenin phosphorylation at Y489 in epithelial and mesenchymal cells in fetal tissue and BPD tissue, but not in the lungs of term infants. Using a 3D human organoid model, we found increased nuclear localization of β-catenin phosphorylated at Y489 (p-β-catenin(Y489)) after exposure to alternating hypoxia and hyperoxia compared with organoids cultured in normoxia. Exogenous stimulation of the canonical Wnt pathway in organoids was sufficient to cause nuclear localization of p-β-catenin(Y489) in normoxia and mimicked the pattern of α-smooth muscle actin (α-SMA) expression seen with fibroblastic activation from oxidative stress. Treatment of organoids with a tyrosine kinase inhibitor prior to cyclic hypoxia-hyperoxia inhibited nuclear localization of p-β-catenin(Y489) and prevented α-SMA expression by fibroblasts. Posttranslational phosphorylation of β-catenin is a transient feature of normal lung development. Moreover, the persistence of p-β-catenin(Y489) is a durable marker of fibroblast activation in BPD and may play an important role in BPD disease pathobiology.

  19. Stem cells as therapeutical option for the treatment of bronchopulmonary dysplasia

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    Dominik Monz

    2015-12-01

    Full Text Available During the past decades clinical results in neonatology have improved dramatically and increased the survival rate of preterm infants significantly. However, the short and long term outcome of these high-risk preterm infants is mainly influenced by respiratory diseases and neurological damages. Despite great advances in perinatal medicine, there is still no satisfactory treatment for bronchopulmonary dysplasia (BPD and current approaches are only supportive, have strong adverse effects or only show small benefits. Stem cell based therapies as well as other modes of regenerative strategies are applied as standard therapy in childhood predominantly in paediatric oncology. To date, such therapies have successfully been applied to treat immunodeficiency disorders and aplastic anaemia. But regenerative medicine might be an option for the treatment of BPD in preterm infants. According to some first preclinical results stem cell administration appears as a promising tool to improve the clinical outcome in high-risk infants. For severe neonatal diseases, e.g. hypoxic-ischemic encephalopathy (HIE in term neonates or BPD in preterm infants, a number of animal models have been established. Although these studies showed positive effects of stem cells in animal models of BPD several questions still remain. Further studies with appropriate preclinical neonate models and carefully controlled clinical trials are needed to assess the significance of regenerative therapies. In this review, we summarize recent results of some experimental and clinical studies that used stem cells to treat BPD associated with impairment of lung development. Proceedings of the 2nd International Course on Perinatal Pathology (part of the 11th International Workshop on Neonatology · October 26th-31st, 2015 · Cagliari (Italy · October 31st, 2015 · Stem cells: present and future Guest Editors: Gavino Faa, Vassilios Fanos, Antonio Giordano

  20. Sildenafil for the Treatment of Pulmonary Arterial Hypertension in Infants with Bronchopulmonary Dysplasia.

    Science.gov (United States)

    Trottier-Boucher, M N; Lapointe, A; Malo, J; Fournier, A; Raboisson, M J; Martin, B; Moussa, A

    2015-08-01

    Sildenafil, a phosphodiesterase-5 inhibitor, is a controversial treatment option for pulmonary arterial hypertension (PAH), a significant complication of bronchopulmonary dysplasia (BPD). The objective of this study was to evaluate the use of sildenafil in infants with PAH secondary to BPD. This was a retrospective review of medical records of all premature infants with PAH associated with BPD treated with sildenafil between January 2009 and May 2013 in a level 3 neonatal intensive care unit. The primary outcomes were clinical response (20 % decreases in respiratory support score or oxygen requirements) and echocardiographic response (20 % decrease in tricuspid regurgitation gradient or change of at least 1° of septal flattening). Twenty-three infants were included in the study. Significant echocardiographic and clinical responses were, respectively, observed in 71 and 35 % of cases. Most clinical responses were observed in the first 48 h of treatment, and the median time to an echocardiographic response was of 19 days. The median dose of sildenafil used was 4.4 mg/kg/day, with a median time to reach the maximum dose of 9 days. Transient hypotension was the primary reported side effect, and it was observed in 44 % of our study population. Sildenafil treatment in patients with PAH secondary to BPD was associated with an echocardiographic improvement in the majority of patients, whereas clinical improvement was observed in a minority of patients. Many infants presented with transient hypotension during the course of the treatment. Further prospective studies are required to better assess safety and efficacy of this treatment in this population.

  1. 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.

  2. 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...

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

    NARCIS (Netherlands)

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

    2011-01-01

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

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

    Science.gov (United States)

    Bassler, Dirk

    2015-01-01

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

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

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    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.

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

    Science.gov (United States)

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

    2012-12-01

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

  7. Clinical Analysis of Premature Infants with Bronchopulmonary Dysplasia%早产儿支气管肺发育不良症的临床分析

    Institute of Scientific and Technical Information of China (English)

    欧伟明; 张金凤; 张菊弟

    2015-01-01

    Objective To investigate the clinical features of preterm infants with bronchopulmonary dysplasia.Methods In our hospital were retrospectively analyzed clinical data of 48 cases of preterm infants with bronch-opulmonary dysplasia in children.Results 48 patients of 44 patients gradualy improved,hospitalized from 21 to 33 d after discharge;4 cases died,the mortality time 10~30 d,cause of death: 1 cases of pulmonary infection,2 cases of chronic respiratory failure,1 cases of pneumothorax.Conclusion Premature for bronchopulmonary dysplasia of newborn disease risk factors,should strengthen the prevention,a reasonable set of ventilator parameters,avoid the occurrence of complications such as infection.%目的 探讨早产儿支气管肺发育不良症的临床特点.方法 回顾性分析我院48例早产儿支气管肺发育不良症患儿的临床资料.结果 48例患儿中44例逐渐好转,住院21~33 d后出院;4例患儿病死,病死时间10~30 d,病死原因:肺部感染1例,慢性呼吸衰竭2例,气胸1例.结论 早产为新生儿支气管肺发育不良症的危险因素,临床应加强预防,合理设置呼吸机参数,避免感染等并发症出现.

  8. 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.

  9. Fatores maternos e neonatais na incidência de displasia broncopulmonar em recém-nascidos de muito baixo peso Maternal and neonatal factors affecting the incidence of bronchopulmonary dysplasia in very low birth weight newborns

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    Gicelle S. Cunha

    2003-11-01

    Full Text Available OBJETIVO: Obter a incidência de displasia broncopulmonar (DBP; avaliar os fatores maternos e neonatais associados com a doença; determinar a correlação entre DBP e a evolução dos recém-nascidos. MÉTODOS: Os dados foram coletados prospectivamente de 153 recém-nascidos com peso de nascimento inferior a 1.500 g, nascidos em Campinas de setembro de 2000 a abril de 2002 e tratados no Hospital Universitário. Foram utilizados razão de taxas de incidências com intervalo de confiança de 95% (IC 95%, regressão Breslow-Cox, teste t de Student, regressão linear e teste exato de Fisher. RESULTADOS: Entre os 124 recém-nascidos que sobreviveram aos 28 dias de vida, 33 (26,6% apresentavam DBP. Peso de nascimento OBJECTIVE: To determine the incidence of bronchopulmonary dysplasia, to identify maternal and neonatal factors associated with the disease, and to determine the correlation between bronchopulmonary dysplasia and the progress of newborns. METHODS: Data were prospectively collected on 153 infants born in Campinas (state of São Paulo, Brazil from September 2000 to April 2002 weighing less than 1,500 g and treated at the University Hospital. The ratio of incidence rates with 95% CI, Breslow-Cox regression, Student's t test, linear regression and the Fisher's exact test were utilized. RESULTS: Among the 124 babies who survived until 28 days of age, 33 (26.6% developed bronchopulmonary dysplasia. Birthweight < 1,000 g (5.6; 95% CI 3.0, 10.4 and gestational age < 30 weeks (4.0; 95% CI 2.1, 7.2 were correlated with increased incidence of bronchopulmonary dysplasia. Breslow-Cox regression showed that other factors including gender, Apgar score, hyaline membrane disease, antenatal steroid therapy, pregnancy-induced hypertension, delivery route and maternal age were not associated with bronchopulmonary dysplasia. Mean duration of hospitalization and ventilator therapy in newborns with and without bronchopulmonary dysplasia was 78.8 days (SD = 26

  10. Systematic Review of Inhaled Bronchodilator and Corticosteroid Therapies in Infants with Bronchopulmonary Dysplasia: Implications and Future Directions.

    Directory of Open Access Journals (Sweden)

    Brian J Clouse

    Full Text Available There is much debate surrounding the use of inhaled bronchodilators and corticosteroids for infants with bronchopulmonary dysplasia (BPD.The objective of this systematic review was to identify strengths and knowledge gaps in the literature regarding inhaled therapies in BPD and guide future research to improve long-termoutcomes.The databases of Academic Search Complete, CINAHL, PUBMED/MEDLINE, and Scopus were searched for studies that evaluated both acute and long-term clinical outcomes related to the delivery and therapeutic efficacy of inhaled beta-agonists, anticholinergics and corticosteroids in infants with developing and/or established BPD.Of 181 articles, 22 met inclusion criteria for review. Five evaluated beta-agonist therapies (n = 84, weighted gestational age (GA of 27.1(26-30 weeks, weighted birth weight (BW of 974(843-1310 grams, weighted post menstrual age (PMA of 34.8(28-39 weeks, and weighted age of 53(15-86 days old at the time of evaluation. Fourteen evaluated inhaled corticosteroids (n = 2383, GA 26.2(26-29 weeks, weighted BW of 853(760-1114 grams, weighted PMA of 27.0(26-31 weeks, and weighted age of 6(0-45 days old at time of evaluation. Three evaluated combination therapies (n = 198, weighted GA of 27.8(27-29 weeks, weighted BW of 1057(898-1247 grams, weighted PMA of 30.7(29-45 weeks, and age 20(10-111 days old at time of evaluation.Whether inhaled bronchodilators and inhaled corticosteroids improve long-term outcomes in BPD remains unclear. Literature regarding these therapies mostly addresses evolving BPD. There appears to be heterogeneity in treatment responses, and may be related to varying modes of administration. Further research is needed to evaluate inhaled therapies in infants with severe BPD. Such investigations should focus on appropriate definitions of disease and subject selection, timing of therapies, and new drugs, devices and delivery methods as compared to traditional methods across all modalities of

  11. 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

  12. Living with Bronchopulmonary Dysplasia

    Science.gov (United States)

    ... the neonatal intensive care unit (NICU). Fatigue (tiredness). Frustration that you can't breastfeed your infant right ... the hospital. They may continue to need oxygen therapy (oxygen given through nasal prongs, a mask, or ...

  13. 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

  14. Life after the NNU: the long term effects on mothers' lives, managing a child at home with broncho-pulmonary dysplasia and on home oxygen.

    Science.gov (United States)

    Manns, Sarah V

    2004-12-01

    This study investigated the long-term influences on mothers' lives having managed an infant with bronchopulmonary dysplasia (BPD), on home oxygen. 16 mothers UK wide, whose children had been at home for over a year, formed this project, and completed a semi-structured questionnaire. All mothers displayed a high standard of literacy and were English/British by their own description with no indication of cross cultural or ethnic differences. Mothers, giving up jobs and careers to remain home, were the primary carers for their child, and experienced long term emotional distress, suffered from lowered self-esteem over many years, self-blame in some cases and grieved over many aspects of pregnancy, birth, babyhood and early childhood. The fear of infection led to these mothers keeping themselves and their children isolated, compounded for half the mothers who faced negative reactions from the community when they did go out with their child.

  15. N-Terminal Pro-B Type Natriuretic Peptide as a Marker of Bronchopulmonary Dysplasia or Death in Very Preterm Neonates: A Cohort Study.

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    Anna Sellmer

    Full Text Available Bronchopulmonary dysplasia (BPD is a serious complication of preterm birth. Plasma N-terminal pro-B type natriuretic peptide (NT-proBNP has been suggested as a marker that may predict BPD within a few days after birth.To investigate the association between NT-proBNP day 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.A cohort study of 183 neonates born before 32 gestational weeks consecutively admitted to the Neonatal Intensive Care Unit, Aarhus University Hospital, Denmark. On day three plasma samples were collected and echocardiography carried out. NT-proBNP was measured by routine immunoassays. The combined outcome BPD or death was assessed at 36 weeks of postmenstrual age. Receiver operator characteristic (ROC analysis was performed to determine the discrimination ability of NT-proBNP by the natural log continuous measure to recognize BPD or death. The association of BPD or death was assessed in relation to natural log NT-proBNP levels day three.The risk of BPD or death increased 1.7-fold with one unit increase of natural log NT-proBNP day three when adjusted for gestational age at birth (OR = 1.7, 95% CI 1.3; 2.3. The association was found both in neonates with and without a PDA. Adjusting for GA, PDA diameter, LA:Ao-ratio, or early onset sepsis did not change the estimate.We found NT-proBNP to be associated with BPD or death in very preterm neonates. This association was not only explained by the PDA. We speculate that NT-proBNP may help the identification of neonates at risk of BPD as early as postnatal day three.

  16. Progress of Treatment of Bronchopulmonary Dysplasia in Premature Infants%早产儿支气管肺发育不良的治疗进展

    Institute of Scientific and Technical Information of China (English)

    黄婕; 郑直

    2013-01-01

    Bronchopulmonary dysplasia( BPd) is currently one of the most common complications of premature infants,which has become one of the most difficult problems in neonatal intensive care unit.The pathogenesis of BPd is extremely complex, so that there is no effective treatment at present.This paper has introduced the latest definition,and progress of prevention and treatment of BPd in premature infants both in domestic and foreign.%早产儿支气管肺发育不良(broncho-pulmonary dysplasia,BPd )是目前早产儿最常见的并发症之一,已经成为新生儿重症监护病房最棘手的问题之一。BPd的发病机制极其复杂,目前尚无有效的治疗方法。现主要介绍国内外有关早产儿BPd的定义、预防及治疗新进展。

  17. 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.

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

    Institute of Scientific and Technical Information of China (English)

    张山丹

    2012-01-01

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

  19. 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.

  20. 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

    2016-05-06

    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 development.

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

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    Lídia Mayrink de Barros

    2007-12-01

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

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

    Science.gov (United States)

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

    2013-05-01

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

  3. How Is Bronchopulmonary Dysplasia Treated?

    Science.gov (United States)

    ... on infants and meet their basic needs of warmth, nutrition, and protection. Once doctors diagnose BPD, some ... the NICU, he or she also may need physical therapy. Physical therapy can help strengthen your child's ...

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

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    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

  5. 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

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    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

  6. Analysis on high risk factors of bronchopulmonary dysplasia in very low birth weight infants%极低出生体重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)

    杨亚娟; 刘晓红; 齐利峰; 李腾; 卫敏超

    2013-01-01

    Objective: To explore the clinical high risk factors of bronchopulmonary dysplasia (BPD) in very low birth weight infants. Methods: The clinical data of 199 very low birth weight infants who were treated in NICU of the hospital were analysed retrospectively, then they were divided into BPD group and nori - BPD group; the probable risk factors of BPD were analyzed. Results: Among 199 very low birth weight infants, 48 infants were diagnosed as BPD, the morbidity was 24. 1%. There were statistically significant differences in the time of mechanical ventilation, the time of oxygen inhalation, the time of oxygen inhalation with oxygen concentration >40% , intrauterine infection, combined with patent ductus arteriosus, and nosocomial infection between BPD group and non - BPD group (P 40% were the risk factors of BPD. Conclusion: Preventing intrauterine infection can reduce the morbidity of BPD, mechanical ventilation for a long time and oxygen inhalation with high oxygen concentration are high risk factors of BPD.%目的:探讨极低出生体重儿发生支气管肺发育不良(Bronchopulmonary Dysplasia,BPD)的临床高危因素.方法:回顾性分析NICU收治的极低出生体重儿199例患儿的临床资料,根据是否发生BPD分为BPD组和非BPD组,分析BPD发生的可能危险因素.结果:199例低出生体重儿中有48例发生BPD,发病率为24.1%.与非BPD患儿组相比,BPD组患儿在机械通气时间、总吸氧时间、吸氧浓度>40%时间、宫内感染、合并动脉导管未闭、院内感染等方面比较差异有统计学意义(P<0.05),Logistic回归分析结果显示机械通气时间、宫内感染、吸氧浓度>40%时间为疾病发生的危险因素.结论:预防宫内感染可降低BPD的发生率,长时间机械通气及高浓度吸氧为BPD发生的高危因素.

  7. 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.

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

    Science.gov (United States)

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

    2015-01-01

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

  9. Study Advances in Molecular Pathogenesis of Bronchopulmonary Dysplasia%支气管肺发育不良的分子水平及发病机制的研究进展

    Institute of Scientific and Technical Information of China (English)

    张华; 刘漫君

    2013-01-01

    With the improvement of premature infants treatment successful rate,the pathological changes and the typing of bronchopulmonary dysplasia(BPD) will also be changed.BPD might be the result of premature birth,chronic oxygen exposure,inflammation and many other factors.It is not only the major cause of the chronic respiratory diseases for infants,but also the major cause of death for infants.The pathogenesis of BPD is a hot spot in neonatology.Here reviews the research progress of molecular level pathogenesis and related genes in BPD onset and development.%随着早产儿救治成活率的不断提高,支气管肺发育不良(BPD)的病理改变、分型等也随之发生了改变.BPD可能是早产、慢性氧暴露、炎症等多因素共同作用的结果,是婴幼儿时期慢性呼吸系统疾病的主要病因和死亡原因.BPD的发病机制是新生儿医学的研究热点.该文就BPD的分子水平发病机制、相关基因在BPD发生、发展中的调节作用等相关研究进展予以综述.

  10. Displasia broncopulmonar: incidência, fatores de risco e utilização de recursos em uma população sul-americana de recém-nascidos de muito baixo peso Bronchopulmonary dysplasia: incidence, risk factors and resource utilization in a population of South-American very low birth weight infants

    Directory of Open Access Journals (Sweden)

    Jose L. Tapia

    2006-02-01

    .OBJECTIVE: To determine the incidence of bronchopulmonary dysplasia, its risk factors and resource utilization in a large South American population of very low birth weight infants. METHODS: Data were prospectively collected from infants weighing 500 to 1,500 g born at 16 NEOCOSUR Network centers from 10/2000 through 12/2003. Multivariate relative risk and 95% confidence intervals were estimated by Poisson regression with robust error variance to find factors that affected the risk of bronchopulmonary dysplasia. RESULTS: 1,825 very low birth weight infant survivors were analyzed. Mean birth weight and gestational age were 1085+279 g and 29+3 weeks respectively. Bronchopulmonary dysplasia incidence averaged 24.4% and survival without bronchopulmonary dysplasia augmented with increasing gestational age. Higher birth weight and gestational age and a female gender all decreased the risk for bronchopulmonary dysplasia. Factors that independently increased that risk were surfactant requirement, mechanical ventilation, air leak, patent ductus arteriosus, late onset sepsis and necrotizing enterocolitis. Bronchopulmonary dysplasia infants had more days of hospitalization (91±27 vs. 51±19, on mechanical ventilation (19±20 vs. 4±7 and oxygen therapy (72±30 vs. 8±14 in comparison with non BPD infants. CONCLUSIONS: Bronchopulmonary dysplasia incidence was 24.4% in a large South American population and is related to greater resource utilization. Risk factors for bronchopulmonary dysplasia in this study were: surfactant requirement, mechanical ventilation, air leak, patent ductus arteriosus, late onset sepsis and necrotizing enterocolitis. These studies may provide information useful to the design of effective preventive perinatal strategies.

  11. Detection of circulating fibrocytes in bronchopulmonary dysplasia in the premature infants and its significance%循环纤维细胞在早产儿支气管肺发育不良中的检测及意义

    Institute of Scientific and Technical Information of China (English)

    李春; 邓春

    2015-01-01

    Objective:To investigate the expression and clinical significance of CD34,COL Ⅰ and CXCR4 in bronchopulmonary dysplasia(BPD).Methods:Expressions of CD34,COL Ⅰ and CXCR4 in peripheral blood from 44 premature infants with BPD on the 1st,3rd,Sth,7th and 28th d after birth were measured by flow cytometry(FCM) and the expression differences of CD34,COL Ⅰ,CXCR4 between BPD group and the non-BPD group were compared.Results:On the 1st d after birth,the expression of CXCR4 increased greatly in BPD group compared with that of non-BPD group.With the increase of days after birth,COL Ⅰ level peaked on 28th d in BPD group,while CD34 and CXCR4 levels reduced to the lowest.Data of ANOVA for repeated measurement showed that time and the changes in CD34,COL Ⅰ and CXCR4 levels caused an interactive effect on the occurrence of BPD(F=77.66,P=-0.000).ROC curve displayed that area under the curve of COL Ⅰ was 0.867,higher than those of CD34 and CXCR4.When COL Ⅰ was 1.3%,the sensitivity was 69.7% and specificity was 86%.There were statistically significances in BPD group among different time points(P=0.000).Conclusion:Circulating fibrocytes with increased level of COL Ⅰ as well as decreased level of CD34 and CXCR4 are closely related with the occurrence of BPD.%目的:探讨CD34、Ⅰ型胶原(collagen Ⅰ,COL Ⅰ)、CXCR4在支气管肺发育不良(bronchopulmonary dysplasia,BPD)的表达及临床意义.方法:利用流式细胞仪(flow cytometry,FCM)检测61例早产儿生后1、3、5、7、28 d外周血中CD34、COLⅠ、CX-CR4的表达,并比较CD34、COLⅠ、CXCR4在BPD组及非BPD组间表达的差异.结果:BPD组患儿较非BPD组患儿CXCR4在生后第1天有明显增高[(61.4±13.37)%].随着日龄的增大,BPD患儿COLⅠ水平在第28天达到高峰[3.42(2.87,4.98)%],而CD34、CXCR4水平降至最低[(0.67±0.25)%;(31.9±13.48)%].重复测量设计方差分析显示,日龄的增大及CD34、COLⅠ、CX-CR4水平的变化对BPD

  12. 早产儿支气管肺发育不良危险因素前瞻性队列研究%Prospective cohort study on risk factor for bronchopulmonary dysplasia in the premature infant

    Institute of Scientific and Technical Information of China (English)

    钟美珍; 白海涛; 刘登礼; 王礼周; 庄德义

    2011-01-01

    目的 探讨早产儿支气管肺发育不良(BPD)的发生率及危险因素.方法 应用前瞻性队列研究的方法,对我院产科2009年1月至2010年6月出生的所有活产早产儿进行研究,统计BPD发生率,并分析相关危险因素.结果 (1)共有425例早产儿入组研究,其中男266例,女159例;胎龄(33.9±2.4)周(26~ 36周);出生体重(2038±660) g(770 ~3150 g),其中极低出生体重儿85例,超低出生体重儿7例.发生BPD 45例,发生率10.6%,死亡(包括自动出院撤机后死亡)7例,BPD病死率15.6%.BPD患儿胎龄≤32周36例(80.0%),出生体重<1500 g 29例(64.4%).(2)多因素Logistic回归分析显示胎龄<30周(OR =3.10)、出生体重<1500 g(OR=2.29)、感染性肺炎(OR =2.74)、动脉导管未闭(OR =2.12)、机械通气(OR =9.57)、H2受体抑制剂( OR=1.36)、应用碳青霉烯类抗生素>4周(OR=2.59)是BPD发病的独立危险因素(P均<0.05).结论 早产儿发生BPD的独立危险因素较多,需要综合防治才能有效控制BPD的发生.%Objective To investigate the incidence and the risk factors for bronchopulmonary dysplasia ( BPD) in premature infants in Xiamen. Methods This was a single-center prospective clinical cohort study. A total of 425 premature infants in the first hospital affiliated to Xiamen university, between January 1,2009 and June 01,2010, were enrolled. Measurements of the demographic and potential risk factors reflecting illness severity were performed. Results ( 1 ) Among 425 cases of premature infants, 266 (62.6%) cases are male, and 159 (37.4%) cases are female, with average gestational age ( 33. 9 ± 2. 4) wk, and birth weight 750 ~ 2800 g, with an average of (1820 ± 462 ) g, of which 97 cases were of very low birth weight infants. Among these infants, there were 45 BPD cases with the incidence of 10. 6% , 7 of them were death cases (including the deaths after automatic discharge from hospital and weaning mechanical ventilation) with the rough

  13. 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

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    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

  14. Bronchopulmonary sequestration and dextrocardia.

    Science.gov (United States)

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

    1998-06-01

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

  15. Kidney Dysplasia

    Science.gov (United States)

    ... Disease Ectopic Kidney Medullary Sponge Kidney Kidney Dysplasia Kidney Dysplasia What is kidney dysplasia? Kidney dysplasia is a condition in which ... Kidney dysplasia in one kidney What are the kidneys and what do they do? The kidneys are ...

  16. 阿奇霉素防治早产儿支气管肺发育不良的系统评价%Azithromycin for preventing bronchopulmonary dysplasia in preterm infants:a systematic review

    Institute of Scientific and Technical Information of China (English)

    李茂军; 陈昌辉; 吴青; 石伟; 阳倩; 唐彬秩

    2015-01-01

    Objective To assess the effectiveness and safety of Azithromycin for preventing bronchopulmonary dysplasia(BPD) in preterm infants in order to provide reference for the clinical treatment of BPD.Methods The electronic retrieval were conducted to review randomized controlled trials (RCTs) from The Cochrane Library,PubMed,EM-Base,China Biological Medicine Database (CBM),Chinese Journals full-text Database (CNKI),Chinese Technological Journals Database(VIP) and Wan Fang Digital Journal Full-text Database by free texts and medical subject headings.The retrieval time was from inception to Dec.2012.Randomized or quasi-randomized studies were conducted by comparing Azithromycin therapy and no treatment or placebo management to prevent BPD among the preterm or low birth weight infants were included.The reference lists of relevant trials and conference proceedings were searched.Risk biases of the trials were assessed.Statistical analysis was performed by using Revman 5.1 offered by Cochrane.Results A total of 2 trials including 328 preterm infants were included.No significant difference was observed between the Azithromycin group and the control group in the incidence of BPD(RR =0.81,95% CI 0.55-1.19).The risk ratio of death and post-natal steroid used in the Azithromycin group were lower,but there was no difference.The risk ratio of length of stay was not significantly different.The rate of BPD in preterm infants who had a positive respiratory culture of Ureaplasma between the preventative Azithromycin group and the placebo group showed that the incidence of BPD was significantly less in the Azithromycin group.Conclusions The available data are insufficient to make a recommendation regarding treatment with prophylactic Azithromycin to prevent BPD in preterm infants.More RCTs with large-scale and high-quality are required to provide more reliable evidence.%目的 系统评价阿奇霉素防治早产儿支气管肺发育不良(BPD)的有效性及安全性,以期为本病

  17. 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

  18. Use of corticosteroids and the outcome of infants with bronchopulmonary dysplasia Uso de Corticosteróides e evolução de recém-nascidos com displasia broncopulmonar

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    Marta M. G. B. Mataloun

    1999-12-01

    Full Text Available Ventilator-dependent premature infants are often treated with dexamethasone. Several trials showed that steroids while improve pulmonary compliance and facilitate extubation, some treated infants may have adverse effects, such as alterations of growth curves. We conducted this retrospective study to evaluate the effects of steroids on mechanical ventilation, oxygen therapy, hospital length stay and mortality, in ventilator-dependent infants with bronchopulmonary dysplasia (BPD (defined as the need of oxygen supplementation at 28 days of life. Twenty-six newborns with BPD were evaluated during 9 -- 42 days postpartum (mean = 31 days and were divided into two groups: Group I - 14 newborns that did not receive dexamethasone, and Group II - 12 newborns that received dexamethasone at 14 --21 days of life. Dexamethasone was given at a dose of 0.25 mg per kilogram of body weight twice daily intravenously for 3 days, after which the dose was tapered. RESULTS: There were no statistically significant differences in the mean length of mechanical ventilation (Group I - 37 days, Group II - 35 days; oxygen supplementation (Group I - 16 days, Group II - 29 days; hospital stay (Group I - 72 days, Group II - 113 days; mortality (Group I - 35.7%, Group II - 41.6%. At birth, Group II was lighter (BW: Group I - 1154 grams ± 302, Group II - 791 grams ± 165; p Recém-nascidos (RN pré-termo dependentes de ventilação mecânica são frequentemente, tratados com corticosteróides. Vários estudos demonstraram que o uso de corticosteróides melhora a complacência pulmonar e facilita a extubação. No entanto, o uso de corticosteróides é associado , também, a alguns efeitos colaterais, como alterações na curva de crescimento dos recém-nascidos. Nós realizamos um estudo retrospectivo, para avaliar os efeitos dos corticosteróides sobre a duração da ventilação mecânica, oxigenoterapia como também sobre o tempo de internação e mortalidade, em rec

  19. 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

  20. Screening of susceptibility genes for bronchopulmonary dysplasia in Han premature infants%汉族早产儿支气管肺发育不良易感基因筛查

    Institute of Scientific and Technical Information of China (English)

    赵堃; 农绍汉; 余宇晖; 钟劲; 欧阳维富; 黄小穗; 聂志强; 孙云霞; 梁穗新

    2015-01-01

    Objective To explore the relationship between susceptibility loci polymorphism and bronchopulmonary dysplasia (BPD) in Han premature infants.Methods Twenty-eight susceptibility genes were speculated to be associated with BPD development according to the literature.And 46 cases of Han premature infants,who were hospitalized in Guangdong General Hospital from April to December 2013 and whose gestational age≤32 weeks,birth weight (BW) ≤ 1 500 g,were prospectively selected into the study after obtaining the informed consents from the parents.Among them,31 cases were BPD patients (BPD group),and 15 cases were non-BPD patients (control group).Blood samples were collected for the detection of 28 susceptibility genes within 3 days of hospitalization.After blood samples were extracted,and genomic DNA was amplified by PCR,the blood samples were then analyzed by single base extension technology and DNA mass spectrometry.Results Fourteen genes,whose frequencies were in Hardy-Weinberg equilibrium among the 28 susceptibility genes,were finally selected as the candidate genes for the study.Tumor necrosis factor α (TNF-α) gene rs1799724 and Toll-like receptor (TLR)-10 gene rs11096955 were founded to be possibly related to the development of BPD.A significant higher CC [93.5% (29/31 cases)] and lower TT[0(0/31 cases)]contents were presented in TNF-α gene detection in BPD group,those in the control group were 33.3% (5/15 cases),20.0% (3/15 cases),and there was significant difference between 2 groups (x2 =18.044,P < 0.01) ; while higher AC [22.6% (7/31 cases)] and lower CC [12.9% (4/31 cases)] contents in TLR-10 gene detection were presented in BPD group,those in the control group were 20.0% (3/15 cases),46.7% (7/15 cases),there was a significant difference between 2 groups (x2 =6.252,P =0.043).C allele distribution frequency of TNF-α gene in the BPD group[93.5% (29/31 cases)] increased,compared with that in control group[46.7% (7/15 cases)],there was a

  1. 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

  2. Anti-inflammtory effects of erythropoietin on hyperoxia-induced bronchopulmonary dysplasia in newborn rats%促红细胞生成素对高氧肺损伤炎症反应病理过程的影响

    Institute of Scientific and Technical Information of China (English)

    王晓蕾; 薛辛东

    2009-01-01

    Objective Bronchopulmonary dysplasia (BPD) is a multifactorial disease resulting from the impact of injury (including oxygen toxicity, barotrauma, volutrauma, and infection) on the immature lung. Oxygen toxicity is thought to be a major contributing factor in the pathogenesis in BPD. Previous animal studies have shown that exposure to hyperoxia in the neonatal period causes lung structural changes that are similar to the histology seen in human infants with BPD. Erythropeietin (EPO) has pleiotropic actions including antioxidant, anti-apeptotic, anti-inflammatory and angiogenic effects. Animal experiments reveal that EPO may have protective effects on hyperoxic lung injury, but the mechanisms remain unknown. The aim of the study was to evaluate the anti-inflammatory effects and understand mechanism of action of EPO on the hyperexia-induced BPD in newborn rats. Method Several litters of Wistar pups were pooled together within 12 hours after birth and randomly divided into four groups: Ⅰ. air-exposed control group, Ⅱ. air-exposed human recombinant erythropeietin (rhEPO)-treated group, Ⅲ. hyperoxia-expesed placebo group and Ⅳ. hyperoxia-expesed rhEPO-treated group. Group Ⅲ and Ⅳ rats were exposed to 85% oxygen. Group Ⅱ and Ⅳ rats received rhEPO (1200 IU/kg) subcutaneously on postnatal days 0 and 2. Group Ⅰ and Ⅲ received 0.9% saline in the same way. Pups from each group were sacrificed on days 3, 7, and 14. Blood hemoglobin concentration, hematocrit and platelet count were determined by blood cell analyzer. Total protein content in bronchoaiveolar lavage fluid (BALF) and myelopsroxidase (MPO) were measured by biochemical assay. Changes of monocyte chemoattractant protein-1 (MCP-1) and cytokine-induced neutrophil cbemoattraclant-1 (CINC-1) mRNA expressions were measured by BT-PCR. Result In group Ⅲ, there were a few inflammatory cells infiltrations in interstitium on day 3 and inflammatory response worsened on day 7. Alveolar and capillary

  3. [Pseudotumoral allergic bronchopulmonary aspergillosis].

    Science.gov (United States)

    Otero González, I; Montero Martínez, C; Blanco Aparicio, M; Valiño López, P; Verea Hernando, H

    2000-06-01

    Allergic bronchopulmonary aspergillosis (ABPA) develops as the result of a hypersensitivity reaction to fungi of the genus Aspergillus. Clinical and radiological presentation can be atypical, requiring a high degree of suspicion on the part of the physician who treats such patients. We report the cases of two patients with APBA in whom the form of presentation--with few asthma symptoms, images showing lobar atelectasia and hilar adenopathy--led to an initial suspicion of lung cancer.

  4. Endosonography in bronchopulmonary disease

    DEFF Research Database (Denmark)

    Vilmann, Peter; Annema, Jouke; Clementsen, Paul

    2009-01-01

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

  5. Metastasizing Bronchopulmonary Leiomyosarcoma

    Directory of Open Access Journals (Sweden)

    Speros Livieratos MD

    2015-04-01

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

  6. Investigation of Early Chest Radiograohic Images of Respiratory Distress Syndrome Complicated with Bronchopulmonary Dysplasia%呼吸窘迫综合征并发支气管肺发育不良早期胸部影像的研究

    Institute of Scientific and Technical Information of China (English)

    劳国荣; 张剑; 罗世康; 叶伙华; 刘超凡

    2013-01-01

    Objective:To investigate the imaging findings and significance of neonatal respiratory distress syndrome(NRDS)complicated with bronchopulmonary dysplasia(BPD),and improve the understandings of complication of chest images especially the early chest images. Method:66 newborns with neonatal respiratory distress syndrome complicated with bronchopulmonary dysplasia(BPD)admitted in the hospital from January 2006 to November 2011 were involved in this research. These cases who had clear discharge diagnosis,full chest image data and complete clinical data and followed for 2 years were analyzed retrospectively. Result:Review of imaging after average treatment for 2-3 weeks showed that 66 cases who treated with NRDS complicated with BPD all showed lungs brightness reduction,ground glass visible changes,planes and flocculent cloud shadow patches of both lung fields and blurred boundary performance. Furthermore,absorption was relatively slower and lasting time was relatively longer compared with image of pulmonary edema during the treatment. 66 cases ultimately had varied degrees of grid-like vesicle-like shadow of change and 25 cases had no significant change after continuous film image. Conclusion:Chest radiographic image change is the most intuitive,most convenient,fastest and first method of clinical dynamic observation. Diagnosis of neonatal bronchopulmonary dysplasia is mainly according on clinical history and imaging data. Although image of chest radiograph and CT has no significantly character,it is very important for the diagnosis. The high resolution CT can provide some valuable signs which contribute to the early diagnosis of development of BPD and gain important time for the prevention and treatment of patients.%  目的:探讨新生儿呼吸窘迫综合征(NRDS)并发支气管肺发育不良(BPD)影像学表现及其意义,以提高对该并发症的胸部影像的认识,尤其是该并发症的早期胸部影像的认识。方法:选择2006

  7. Ectodermal dysplasia

    Science.gov (United States)

    ... the womb. Alternative Names Anhidrotic ectodermal dysplasia; Christ-Siemens-Touraine syndrome Images Skin layers References Grange DK. Ectodermal dysplasias. Rimoin D, Korf B, eds. In: Emery and Rimoin's Principles and Practice of Medical Genetics . 6th ed. Philadelphia, PA: Elsevier; 2013:chap ...

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

    DEFF Research Database (Denmark)

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

    2013-01-01

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

  9. Ectodermal dysplasia

    Directory of Open Access Journals (Sweden)

    Sonia Saggoo

    2009-01-01

    Full Text Available Hereditary hypohidrotic ectodermal dysplasia, also called the Christ-Siemens-Touraine Syndrome is characterized by congenital dysplasia of one or more ectodermal structures and is manifested by hypohidrosis, hypotrichosis and hypodontia. It is usually an X-linked recessive mendelian character which is rarely seen in males. It results from abnormal morphogenesis of cutaneous and oral embryonic ectoderm. Patients with this disorder exhibit smooth , thin and dry skin, fine and blond scanty hair. Intra-orally anodontia or hypodontia, with impaired development of alveolar process is seen. A case report of a rare case of this disorder in a female patient aged 18 years is hereby presented.

  10. Safety evaluation of inhaled nitric oxide in treatment of bronchopulmonary dysplasia%长期吸入低浓度一氧化氮在支气管肺发育不良治疗中的安全性研究

    Institute of Scientific and Technical Information of China (English)

    韦秋芬; 李燕; 潘新年; 蒙丹华; 刘先知; 许靖; 韦玮

    2016-01-01

    Objective To discuss the safety of inhaled nitric oxide (iNO)for bronchopulmonary dysplasia (BPD).Methods We analysed 65newborns diagnosed as BPD from January 2012to December 2013in Maternal and Child Health Hospital of the Guangxi Zhuang Autonomous Region.They were divided into iNO group(n=35)and control group(n=30)according to whether administering iNO or not.The heart rate,blood pressure,oxygen supply time,assisted ventilation time,hospital stay,concentration of NO2 and methemoglobin,and the changes of coagulation function were observed dynamically before and after iNO treatment.Results There were significant differences in oxygen supply time[(37±9)d vs.(55±7)d], assisted ventilation time[(29±7)d vs.(35±9)d],hospital stay [(45±9)d vs.(54±7)d]between iNO group and control group(P﹤0.05).There were no obvious changes in heart rate,blood pressure and co-agulation function before and after iNO treatment(P﹥0.05).The incidences of the complications had no sig-nificant differences between the two groups (P﹥0.05).Conclusion Long-time iNO can shorten oxygen therapy time and assisted ventilation time,iNO therapy in BPD doesn′t found serious adverse effect to cardio-vascular function as well as coagulation function,and doesn′t increase the risk of intracranial hemorrhage and retinopathy of prematurity.%目的:探讨吸入一氧化氮(inhaled nitric oxide,iNO)治疗支气管肺发育不良的疗效及安全性。方法收集2012年1月至2013年12月在我院新生儿科收治的确诊支气管肺发育不良患儿65例,根据是否给予iNO治疗,将患儿分为iNO治疗组35例及对照组30例。动态观察iNO治疗前后两组患儿的心率、血压、给氧时间、辅助通气时间、住院时间、NO2浓度、高铁血红蛋白浓度及凝血功能的变化。结果 iNO治疗组与对照组患儿的吸氧时间[(37±9)d vs.(55±7)d],辅助通气时间[(29±7)d vs.(35±9)d]及住院时间[(45±9)d vs.(54±7)d]比较,

  11. Bronchopulmonary lophomoniasis: emerging disease or unsubstantiated legend?

    Science.gov (United States)

    Martínez-Girón, Rafael; van Woerden, Hugo Cornelis

    2014-06-23

    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.

  12. The value of improved family management model to reduce occurrence of death and rehospitalization of children with bronchopulmonary dysplasia after discharge%改良出院后家庭管理模式在降低支气管肺发育不良患儿出院后病死率及再住院率的价值

    Institute of Scientific and Technical Information of China (English)

    杨秀芳; 柳国胜

    2015-01-01

    目的 探讨改良出院后家庭管理模式对降低支气管肺发育不良(BPD)患儿出院后病死率及再住院率的价值.方法 选取2006年1月至2013年12月在中山大学附属中山医院新生儿监护室住院的BPD患儿为研究对象,其中2010年1月至2013年12月应用改良出院后家庭管理模式31例BPD患儿为试验组,2006年1月至2009年12月应用传统出院后家庭管理模式27例BPD患儿为对照组.应用x2检验比较2组出院后3个月内病死率和再住院率;应用t检验比较2组在校正胎龄40周及校正年龄3月龄时肺功能情况.结果 试验组出院后3个月内的病死率[3.22%(1/31例)]明显低于对照组[22.22%(6/27例)],差异有统计学意义(x2 =4.907,P<0.05).试验组再住院率[25.80%(8/31例)]明显低于对照组[77.78%(21/27例)],差异有统计学意义(x2=15.591,P <0.05).校正年龄3月龄时试验组(存活30例)呼吸频率低于对照组(存活21例),2组比较差异有统计学意义(t=9.225,P<0.05),试验组达峰时间、达峰容积、25%潮气量时呼气流速、50%潮气量时呼气流速和75%潮气量时呼气流速均高于对照组,2组比较差异均有统计学意义(t=3.992、3.301、4.645、3.152、2.916,P均<0.05),校正年龄3月龄时试验组BPD患儿的肺功能明显优于对照组.结论 改良出院后家庭管理模式有利于降低BPD患儿出院后3个月内的病死率和再住院率,有利于肺功能的改善.%Objective To explore the value of improved family management model to reduce the occurrence of death and rehospitalization rate of children with bronchopulmonary dysplasia (BPD) after discharge.Methods The children with BPD who were admitted in Neonatal Intensive Care Unit of Zhongshan Hospital Affiliated to Sun Yat-Sen University from January 2006 to December 2013 were enrolled.Thirty-one cases with BPD used with improved family management mode after discharge from January 2010 to December 2013 were as experimental group

  13. Study on risk factors and follow-up outcome at 2 years in preterm infants with bronchopulmonary dysplasia%早产儿支气管肺发育不良危险因素及2岁时随访结局

    Institute of Scientific and Technical Information of China (English)

    尹燕丹; 祁媛媛; 洪达; 王传凯; 张晓波; 钱莉玲

    2016-01-01

    目的:探讨早产儿发生支气管肺发育不良( BPD)的危险因素及远期随访结局。方法以2012年1月至2013年12月在复旦大学附属儿科医院新生儿科病房住院的胎龄≤32周、出生体重≤1500 g及生后7 d内入院的BPD早产儿为BPD组,同期入住我院的非BPD早产儿中选取与BPD组等同样本量的病例为对照组。采集与BPD发生的母亲和新生儿因素行单因素分析和多因素分析。同时统计BPD早产儿生后1岁内和~2岁的支气管炎、肺炎、喘息发作次数和住院次数等指标。结果 BPD组和对照组均纳入了156例早产儿。单因素分析显示,BPD组母亲年龄( P=0.046)、先兆子( P=0.025)和阴道产( P<0.001)比例显著高于对照组;BPD组出生胎龄、出生体重显著低于对照组( P均<0.001)。BPD组1和5 min Apgar评分,败血症≥72 h、动脉导管未闭( PDA)、早产儿视网膜病变、应用肺表面活性物质、呼吸机相关性肺炎、机械通气≥7 d的比例均与对照组差异有统计学意义。多因素Logistic回归分析显示胎龄( OR=0.46,95%CI:0.37~0.58)、机械通气≥7 d(OR=9.47,95%CI:3.70~24.27)、PDA(OR=2.21,95%CI:1.18~4.12)、先兆子(OR=4.91,95%CI:1.26~19.15)是发生BPD的危险因素。BPD组1岁以内支气管炎、喘息的发生率高于对照组,再入院率两组差异无统计学意义;BPD组生后~2岁较生后1岁以内肺炎的发生率显著下降,支气管炎、喘息的发生率及再入院率差异无统计学意义。结论低出生胎龄、机械通气≥7 d、PDA、先兆子是发生BPD的危险因素;BPD早产儿在生后1年以内下呼吸道感染的发生率增高。%Objective To investigate the main risk factors and long term outcome of preterm infants with bronchopulmonary dysplasia( BPD). Methods Children with BPD were collected from neonatal intensive care units( NICU)in Children

  14. Recombinant human erythropoietin attenuates pulmonary inflammatory in newborn rats with chronical hyperoxia-induced bronchopulmonary dysplasia%重组人促红细胞生成素减轻慢性高体积分数氧致支气管肺发育不良新生大鼠的炎性反应

    Institute of Scientific and Technical Information of China (English)

    耿琳琳; 吕伟; 宋靖荣

    2015-01-01

    Objective To investigate anti-inflammatory effect of recombinant human erythropoietin(rhEPO) on bronchopulmonary dysplasia in newborn rats exposed to hyperoxia.Methods Ninety-six Wistar newborn rats were randomly divided into 4 groups after birth:room air-exposed control group,room air-exposed rhEPO treated group,hyperoxia-exposed group,and the hyperoxia-exposed rhEPO treated group.The last two groups were exposed to oxygen,FiO2 =850 mL/L,room air-exposed rhEPO treated and hyperoxia-exposed rhEPO treated group received rhEPO 2 400 IU/kg subcutaneously at birth,30 minutes' before oxygen exposure and 2 d after birth.The isodose of 9 g/L saline was given in the same way in room air-exposed controls and hyperoxia-exposed pups.Rats from each group were sacrificed on day 3,7 and 10.Lung histology was observed under microscope,and mRNA expression of monocyte chemoattractant protein-1 (MCP-1) and cytokine-induced neutrophil hemoattractant-1 (CINC-1) were determined with reverse transcriotion-polymerase chain reaction(RT-PCR).Results Under microscope,in the hyperoxia-exposed group,inflammatory cell influx was detected in the lungs on the 3rd day and there was marked neutrophlic infiltrate on the 7th day.Alveolar enlargement and fibrosis were evident on the 10th day.At the same time,the histopathological changes were improved greatly in the lungs of hyperoxia-exposed rhEPO treated pups compared with the hyperoxia-exposed pups.MCP-1 and CINC-1 mRNA expression increased in hyperoxia-exposed pups,compared with room air-exposed controls especially on the 7th day [(0.94 ± 0.45) vs (0.21 ± 0.03),P < 0.001 ; (1.26 ± 0.29) vs (0.26 ± 0.06),P < 0.001].MCP-1 and CINC-1 mRNA expression were greatly depressed in the hyperoxia-exposed rhEPO treated pups compared with the hyperoxia-exposed pups especially on the 7th day.[(0.65 ± 0.07) vs (0.94 ± 0.45),P<0.05;(0.83±0.07) vs (1.26±0.29),P<0.05].Conclusions The therapy of rhEPO (2 400 IU/kg) therapy can reduce lung

  15. 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.

  16. 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

  17. Diagnosis and treatment of bronchopulmonary neuroendocrine tumours

    DEFF Research Database (Denmark)

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

    2016-01-01

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

  18. Analysis of two cases with bronchopulmonary neurofibromatosis

    Directory of Open Access Journals (Sweden)

    Yuan Ting

    2012-07-01

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

  19. Putative bronchopulmonary flagellated protozoa in immunosuppressed patients.

    Science.gov (United States)

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

    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 infectious diseases. Bronchoalveolar lavage fluid samples of 110 immunosuppressed adult patients who were admitted to the Department of Chest Diseases, Hafsa Sultan Hospital of Celal Bayar University, Manisa, Turkey, were examined in terms of parasites by light microscopy. Flagellated protozoal forms were detected in nine (8.2%) of 110 cases. Metronidazole (500 mg b.i.d. for 30 days) was given to all positive cases and a second bronchoscopy was performed at the end of the treatment, which revealed no parasites. In conclusion, immunosuppressed patients with bronchopulmonary symptoms should attentively be examined with regard to flagellated protozoa which can easily be misidentified as epithelial cells.

  20. Genetics Home Reference: metatropic dysplasia

    Science.gov (United States)

    ... damage the spinal cord; either a sunken chest (pectus excavatum) or a protruding chest (pectus carinatum); and joint ... Disease InfoSearch: Metatrophic dysplasia MalaCards: metatropic dysplasia Nemours Children's Health System Orphanet: Metatropic dysplasia Patient Support and ...

  1. Cervical dysplasia - series (image)

    Science.gov (United States)

    ... to detect cervical cancer. Limited or early cervical cancer (carcinoma in situ, or cervical intraepithelial neoplasia, or dysplasia) requires treatment with ablation therapy, usually in the form of ...

  2. CT in childhood allergic bronchopulmonary aspergillosis

    Energy Technology Data Exchange (ETDEWEB)

    Shah, A.; Bhagat, R.; Panchal, N. (Delhi Univ. (India). Vallabhabhai Patel Chest Inst.); Pant, C.S. (Institute of Nuclear Medicine and Allied Sciences, Delhi (India). Imaging Div.)

    1992-06-01

    CT of the thorax done during acute severe asthma in two paediatric patients demonstrated central bronchiectasis, a sine qua non for the diagnosis of allergic bronchopulmonary aspergillosis. Bronchography, regarded as the gold standard, was done subsequently on recovery. A comparative segmental analysis revealed that CT was able to identify immediately 24 of 27 segments which showed central bronchiectasis on bronchography. Early diagnosis with the aid of CT enabled immediate intervention which may have helped to prevent further lung damage in the paediatric patients. (orig.).

  3. Spondylo-costal dysplasia

    Energy Technology Data Exchange (ETDEWEB)

    Kozlowski, K.

    1984-02-01

    Fourteen patients with spondylo-costal dysplasia were analysed. 3 of them presented without obvious associated anomalies ''pure'' spondylo-costal dysplasias; 2 had several components consistent with Vater (Vacterl)-Association; 2 showed malformations which are often encountered in Vater (Vacterl)-Association; 4 presented with minor malformations; 3 had major associated malformations rarely seen in Vater (Vacterl)-Association. Thoracic spine and costal malsegmentation can be sporadically observed in other ''errors in septation complex'' (axial mesodermal dysplasia) including severe myelomeningocoele and diastematomyelia.

  4. APPLYING OF GAS ANALYSIS IN DIAGNOSIS OF BRONCHOPULMONARY DISEASES

    Directory of Open Access Journals (Sweden)

    Ye. B. Bukreyeva

    2014-01-01

    Full Text Available Bronchopulmonary system diseases are on the first place among the causes of people's death. Most of methods for lung diseases diagnosis are invasive or not suitable for children and patients with severe disease. One of the promising methods of clinical diagnosis and disease activity monitoring of bronchopulmonary system is analyzing of human breath. Directly exhaled breath or exhaled breath condensate are using for human breaths analyzing. Analysis of human breath can apply for diagnostic, long monitoring and evaluation of efficacy of the treatment bronchopulmonary diseases. Differential diagnostic between chronic obstructive lung disease (COPD and bronchial asthma is complicated because they have differences in pathogenesis. Analysis of human breath allows to explore features of COPD and bronchial asthma and to improve differential diagnostic of these diseases. Human breaths analyzing can apply for diagnostic dangerous diseases, such as tuberculosis, lung cancer. The analysis of breath air by spectroscopy methods is new noninvasive way for diagnosis of bronchopulmonary diseases.

  5. Cervical deciduosis imitating dysplasia.

    Science.gov (United States)

    van Diepen, Diederik Anthony; Hellebrekers, Bart; van Haaften, Anne-Marie; Natté, Remco

    2015-09-22

    Ectopic cervical deciduosis is generally an accidental finding during pregnancy, and usually presents without any symptoms or need for therapeutic intervention. However, it can sometimes imitate dysplasia or carcinoma. We report a case of a 34-year-old G2P0, with a history of cervical dysplasia, presenting at 11 weeks of gestation, with vaginal blood loss. During examination, lesions mimicking dysplasia were found on the cervix. Histological examination reported cervical deciduosis. Deciduosis is a benign change during pregnancy and will resolve spontaneously. With the increasing use of cytology and colposcopy, the reported incidence is growing. When it is hard to differentiate between dysplasia and deciduosis, histological confirmation should be considered.

  6. 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.

  7. Gracile bone dysplasias

    Energy Technology Data Exchange (ETDEWEB)

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

    2002-09-01

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

  8. 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.

  9. Mandibulo-acral dysplasia

    Energy Technology Data Exchange (ETDEWEB)

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

    2000-11-01

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

  10. 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.

  11. 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.

  12. 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.

  13. Prevention and management of bronchopulmonary dysplasia: Lessons learned from the neonatal research network

    Science.gov (United States)

    Kennedy, Kathleen A.; Cotten, C. Michael; Watterberg, Kristi L.; Carlo, Waldemar A.

    2017-01-01

    Despite remarkable improvements in survival of extremely premature infants, the burden of BPD among survivors remains a frustrating problem for parents and caregivers. Advances, such as antenatal steroids and surfactant replacement, which have dramatically improved survival, have not reduced BPD among survivors. Other advances that have significantly improved the combined outcome of death or BPD, such as vitamin A and avoidance of mechanical ventilation, have had smaller magnitude effects on the outcome of BPD alone. Postnatal steroids have a clear beneficial effect on BPD, but the optimal preparation, dose, and timing for maximizing benefit and minimizing harm have yet to be determined. This persistent burden of BPD among the most immature survivors remains a challenge for the NRN and other researchers in neonatal medicine. PMID:27742002

  14. Growth in infants with bronchopulmonary dysplasia, endocrine and pulmonary aspects : clinical and follow-up studies

    NARCIS (Netherlands)

    W.A. Huijsman (Marianne)

    2003-01-01

    markdownabstract__Abstract__ In the last decades important advances in neonatal intensive care have been made leading to an increased survival of especially very preterm infants. Major changes in survival rate have been attributed to the use of antenatal steroids and surfactant in the prevention an

  15. 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.

  16. 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.

  17. 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...

  18. Algorithm of rehabilitation examination of children with bronchopulmonary diseases

    Directory of Open Access Journals (Sweden)

    Nataliya Ivasyk

    2016-08-01

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

  19. Lumbar-sacral dysplasias

    Energy Technology Data Exchange (ETDEWEB)

    Schumacher, M.; Thron, A.

    1984-09-01

    By means of some selected examples, the myelographic and CT characteristics are presentated of different lumbar-sacral dysplasias. The advantage of the different methods of examination (CT, CT myelography and myelography) and the improved presentation of pathological-anatomical details by means of a combination of these methods in the diagnosis of hyperplasia of the filum terminale, diastematomyelia, tethered conus, intracorporal and anterior sacral meningocele have been shown.

  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. [Craniofacial fibrous dysplasia].

    Science.gov (United States)

    Couturier, A; Aumaître, O; Mom, T; Gilain, L; André, M

    2016-12-01

    Fibrous dysplasia of bone is a benign, uncommon, sporadic, congenital skeletal disorder resulting in deformity. This disease arises from activating somatic mutation in GNAS which encodes the α subunit of the G stimulatory protein associated with proliferation of undifferentiated osteogenic cells resulting in marrow fibrosis, abnormal matrix production, and stimulation of osteoclastic resorption upon overproduction of IL-6 observed in dysplastic cells. Fibrous dysplasia may be monostotic or polyostotic. This mutation affecting many tissues, café au lait skin macules and endocrinopathies (precocious puberty, hyperthyroidism, growth hormone excess, Cushing syndrome) may be associated in McCune-Albright syndrome, but also myxoma in Mazabraud syndrome or phosphate diabetes. Diagnosis of craniofacial fibrous dysplasia should be considered in the presence of headache, neuralgia, sensory disorders (vision, hearing, balance, smelling), functional disorders (nasal obstruction, nasolacrimal duct obstruction, non-matching occlusion), infectious complications (sinusitis, otitis, mastoiditis). Such symptoms should lead to perform craniofacial CT scan completed with MRI. Bone biopsy is not systematic. Surgical treatment is discussed in cases of nervous complication, facial deformity or active lesions. In case of pain resistant to conventional analgesics, intravenous bisphosphonates can be proposed. In non-responder patients, several case reports suggest the efficacy of a monoclonal antibody directed against the IL-6 receptor which requires to be confirmed by randomized studies.

  2. Spectrum of bronchopulmonary anomalies associated with tracheoesophageal malformations

    Energy Technology Data Exchange (ETDEWEB)

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

    1985-09-01

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

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

    OpenAIRE

    Collins J; de Vos G; Hudes G; Rosenstreich D

    2012-01-01

    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 the...

  4. 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...

  5. Defining dysplasia in Barrett esophagus.

    Science.gov (United States)

    Robert, Marie E

    2003-01-01

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

  6. 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.

  7. Ellis-Van Creveld Dysplasia

    Science.gov (United States)

    ... configuration along chromosome 4 (4p16), are responsible for EVC (3). Physical Characteristics Ellis-Van Creveld Dysplasia is ... 000 live births. More than 200 cases of EVC have now been reported (3). Face and Skull ...

  8. Pediatric aspects of skeletal dysplasia.

    Science.gov (United States)

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

    2012-10-01

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

  9. 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.

  10. 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.)

  11. Esophageal lung – A rare bronchopulmonary foregut malformation

    Directory of Open Access Journals (Sweden)

    S.V. Parelkar

    2014-11-01

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

  12. Genetics Home Reference: hypohidrotic ectodermal dysplasia

    Science.gov (United States)

    ... Names for This Condition Anhidrotic Ectodermal Dysplasia Christ-Siemens-Touraine Syndrome CST syndrome HED Related Information How ... NORD) Resource list from the University of Kansas Medical Center GeneReviews (1 link) Hypohidrotic Ectodermal Dysplasia ClinicalTrials. ...

  13. Schimke immunoosseous dysplasia: Defining skeletal features

    NARCIS (Netherlands)

    K.B. Hunter (Kshamta); T. Lücke (Thomas); J. Spranger (Jürgen); S.F. Smithson (Sarah); H. Alpay (Harika); J.-L. André (Jean-Luc); Y. Asakura (Yumi); R. Bogdanovic (Radovan); D. Bonneau (Dominique); R. Cairns (Robyn); K. Cransberg (Karlien); S. Fründ (Stefan); H. Fryssira (Helen); D. Goodman (David); K. Helmke (Knut); B. Hinkelmann (Barbara); G. Lama (Guiliana); P. Lamfers (Petra); C. Loirat (Chantal); S. Majore (Silvia); C. Mayfield (Christy); B.F. Pontz (Betram); C. Rusu (Christina); J.M. Saraiva (Jorge); B. Schmidt (Beate); L. Schoemaker (Lawrence); S. Sigaudy (Sabine); N. Stajic (Natasa); D. Taha (Doris); C.F. Boerkoel (Cornelius)

    2010-01-01

    textabstractSchimke immunoosseous dysplasia (SIOD) is an autosomal recessive multisystem disorder characterized by prominent spondyloepiphyseal dysplasia, T cell deficiency, and focal segmental glomerulosclerosis. Biallelic mutations in swi/snf-related, matrix-associated, actin-dependent regulator o

  14. Bronchopulmonary allergic aspergillosis Aspergilosis broncopulmonar alérgica

    Directory of Open Access Journals (Sweden)

    Rodrigo Ramírez

    1990-03-01

    Full Text Available

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

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

  15. 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.

  16. 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.

  17. Case report: allergic bronchopulmonary aspergillosis and allergic fungal sinusitis successfully treated with voriconazole.

    Science.gov (United States)

    Erwin, Gary E; Fitzgerald, John E

    2007-12-01

    Allergic bronchopulmonary aspergillosis and allergic fungal sinusitis are closely related disorders that rarely present in the same individual. The mainstay of treatment for allergic bronchopulmonary aspergillosis is systemic corticosteroids. Itraconazole is used as adjunctive therapy in refractory cases. Allergic fungal sinusitis requires initial sinus surgery followed by systemic steroids. Antifungal therapy has not proven to be beneficial in allergic fungal sinusitis. We report a case of concomitant allergic bronchopulmonary aspergillosis and allergic fungal sinusitis that was refractory to standard therapy but had dramatic clinical response following treatment with voriconazole.

  18. The nature of fibrous dysplasia

    Directory of Open Access Journals (Sweden)

    Lemmer Johan

    2009-11-01

    Full Text Available Abstract Fibrous dysplasia has been regarded as a developmental skeletal disorder characterized by replacement of normal bone with benign cellular fibrous connective tissue. It has now become evident that fibrous dysplasia is a genetic disease caused by somatic activating mutation of the Gsα subunit of G protein-coupled receptor resulting in upregulation of cAMP. This leads to defects in differentiation of osteoblasts with subsequent production of abnormal bone in an abundant fibrous stroma. In addition there is an increased production of IL-6 by mutated stromal fibrous dysplastic cells that induce osteoclastic bone resorption.

  19. Oral epithelial dysplasia classification systems

    DEFF Research Database (Denmark)

    Warnakulasuriya, S; Reibel, J; Bouquot, J

    2008-01-01

    ) and was of the view that reducing the number of choices from 3 to 2 may increase the likelihood of agreement between pathologists. The utility of this need to be tested in future studies. The variables that are likely to affect oral epithelial dysplasia scoring were discussed and are outlined here; these need...

  20. Genetics Home Reference: otospondylomegaepiphyseal dysplasia

    Science.gov (United States)

    ... 1):33-5. Citation on PubMed Melkoniemi M, Brunner HG, Manouvrier S, Hennekam R, Superti-Furga A, Kääriäinen ... de Waal Malefijt MC, van den Hoogen FH, Brunner HG. Oto- spondylo-megaepiphyseal dysplasia (OSMED): clinical description ...

  1. Role of inhaled amphotericin in allergic bronchopulmonary aspergillosis

    Directory of Open Access Journals (Sweden)

    I S Sehgal

    2014-01-01

    Full Text Available Allergic bronchopulmonary aspergillosis (ABPA is an immunological pulmonary disorder caused by immune reactions mounted against the ubiquitous fungus Aspergillus fumigatus. The disease clinically manifests with poorly controlled asthma, hemoptysis, systemic manifestations like fever, anorexia and weight loss, fleeting pulmonary opacities and bronchiectasis. The natural course of the disease is characterized by repeated episodes of exacerbations. Almost 30-40% of the patients require prolonged therapy, which currently consists of corticosteroids and anti-fungal azoles; both these agents have significant adverse reactions. Amphotericin B administered via the inhaled route can achieve a high concentration in the small airways with minimal systemic side-effects. Nebulized amphotericin B has been used in the management of invasive pulmonary aspergillosis. The aim of this review is to study the utility of inhaled amphotericin in ABPA.

  2. Exophiala pisciphila: a novel cause of allergic bronchopulmonary mycosis

    Science.gov (United States)

    Mador, M. Jeffery

    2016-01-01

    Allergic bronchopulmonary mycosis (ABPM) is a hypersensitivity reaction to fungal antigens, which may particularly plague uncontrolled asthmatics. Non-aspergillus fungal organisms may be implicated and may elicit a more severe immunologic response. Exophiala pisciphila, a marine organism, has not been reported as a culprit yet. However, this report indicates it may be implicated in unrelenting symptoms in a severe asthmatic patient who had become dependent on corticosteroids. Proper identification and adequate therapy of this organism led to complete resolution of respiratory symptoms, with adequate subsequent control of the asthma. ABPM may complicate asthma and lead to a lack of its control. Proper awareness, testing and treatment of non-aspergillus pulmonary mycosis is essential to proper asthma care and beneficial for its control. PMID:27499992

  3. Allergic bronchopulmonary aspergillosis in an adult with Kartagener syndrome.

    Science.gov (United States)

    Sehgal, Inderpaul Singh; Dhooria, Sahajal; Bal, Amanjit; Agarwal, Ritesh

    2015-08-06

    Allergic bronchopulmonary aspergillosis (ABPA) is a pulmonary disorder resulting from immune responses directed against inhaled Aspergillus fumigatus antigens. It manifests with poorly controlled asthma, fleeting pulmonary opacities and structural lung damage in the form of bronchiectasis. Initially defined in individuals suffering from bronchial asthma and cystic fibrosis, it has also been described in patients with other structural lung disorders such as chronic obstructive pulmonary disease, pulmonary tuberculosis, idiopathic bronchiectasis and others. Kartagener syndrome is a manifestation of primary ciliary dyskinesia characterised by the presence of dextrocardia, bronchiectasis and chronic sinusitis. We report a case of ABPA in an adult suffering from Kartagener syndrome. We also performed a systematic review of the literature on the association between Kartagener syndrome and ABPA.

  4. Pseudomonas bronchopulmonary infections in a palliative care setting

    Directory of Open Access Journals (Sweden)

    Naveen Salins

    2015-04-01

    Full Text Available Blood stream infections and pneumonia caused by Pseudomonas aeruginosa is associated with high mortality, especially in an immunocompromised host. A large section of the palliative care patient population has varied forms of compromised immunity due to advanced cancer or cancer treatment, organ failures, chronic autoimmune disorders, degenerative conditions, and acquired immunodeficiency syndrome. The lung is one of the most frequently involved organs in a variety of complications in an immunocompromised host and infection is the most common complication. P. aeruginosa is one of the most common pathogens associated with bronchopulmonary infections in an immunocompromised host. Routine radiological tests like chest X-ray may often be unyielding and an early and a prompt initiation of treatment reduces mortality and morbidity risk.

  5. 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

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

    NARCIS (Netherlands)

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

    2015-01-01

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

  7. 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.

  8. 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.

  9. Skeletal dysplasia in ancient Egypt.

    Science.gov (United States)

    Kozma, Chahira

    2008-12-01

    The ancient Egyptian civilization lasted for over 3000 years and ended in 30 BCE. Many aspects of ancient Egyptian culture, including the existence of skeletal dysplasias, and in particular achondroplasia, are well known through the monuments and records that survived until modern times. The hot and dry climate in Egypt allowed for the preservation of bodies and skeletal anomalies. The oldest dwarf skeleton, the Badarian skeleton (4500 BCE), possibly represents an epiphyseal disorder. Among the remains of dwarfs with achondroplasia from ancient Egypt (2686-2190 BCE), exists a skeleton of a pregnant female, believed to have died during delivery with a baby's remains in situ. British museums have partial skeletons of dwarfs with achondroplasia, humeri probably affected with mucopolysaccharidoses, and a skeleton of a child with osteogenesis imperfecta. Skeletal dysplasia is also found among royal remains. The mummy of the pharaoh Siptah (1342-1197 BCE) shows a deformity of the left leg and foot. A mummified fetus, believed to be the daughter of king Tutankhamun, has scoliosis, spina bifida, and Sprengel deformity. In 2006 I reviewed the previously existing knowledge of dwarfism in ancient Egypt. The purpose of this second historical review is to add to that knowledge with an expanded contribution. The artistic documentation of people with skeletal dysplasia from ancient Egypt is plentiful including hundreds of amulets, statues, and drawing on tomb and temple walls. Examination of artistic reliefs provides a glance of the role of people with skeletal dysplasia and the societal attitudes toward them. Both artistic evidence and moral teachings in ancient Egypt reveal wide integration of individuals with disabilities into the society.

  10. Spondyloepiphyseal Dysplasia Tarda in Twins

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    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

  11. Optic Nerve Decompression for Orbitofrontal Fibrous Dysplasia

    OpenAIRE

    Abe, Takumi; Sato, Kaneshige; Otsuka, Takaharu; Kawamura, Noriyoshi; Shimazu, Motohiko; Izumiyama, Hitoshi; Matsumoto, Kiyoshi

    2002-01-01

    Orbitofrontal fibrous dysplasia often involves the bony orbit and the optic canal. Although fibrous dysplasia reportedly produces compression of the optic nerve leading to visual distrubances, optic nerve decompression in patients without clinical signs of optic neuropathy is still controversial. We describe two patients with orbitofrontal fibrous dysplasia without signs of visual disturbance and one patient with McCune-Albright syndrome and progressive visual impairment. Optic nerve decompre...

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

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    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. 

  13. Presentation of hypohidrotic ectodermal dysplasia in two siblings

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    Uday Ginjupally

    2015-01-01

    Full Text Available Ectodermal dysplasias are a large hereditary group of disorders which are usually manifested as X-linked recessive disorders and have a full expression in males, whereas females show little to no signs of the disorder. The two most common types of ectodermal dysplasias are hypohidrotic ectodermal dysplasia (Christ-Siemens-Touraine syndrome and hidrotic ectodermal dysplasia (Clouston syndrome. Hypohidrotic ectodermal dysplasia is characterized by hypodontia, hypotrichosis, and hypohidrosis. Here, we present two female sibling cases of hypohidrotic ectodermal dysplasia.

  14. 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.

  15. Perfusion pulmonoscintigraphy in diagnostic of broncho-pulmonary paecilomycosis

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    Abdusalom Ashurov

    2010-12-01

    Full Text Available 74 patients with broncho-pulmonary paecilomycosis were observed for the indexes of pulmonoscintigraphy. According to the clinical manifestations of the disease all investigated patients were divided into two groups: 1st group - 25 people with predominance of the clinical signs of bronchial asthma (5 people with chronic obstructive bronchitis, 20 people with bronchial asthma and 2nd group - 54 people with predominance of the clinical signs of inflammation process of the lungs' parenchyma and interstitial tissue (38 patients with pneumonia, 16 patients with exogenous-allergic alveolitis. The results of radionuclide investigation showed that scintigraphic pictures of the investigated people of the 1st and 2nd groups were significantly differed from the lungs' picture of the patients from the control group. During visual evaluation of the scintigrams the areas of disorders of pulmonary circulation were presented by defects of different degree. Also, they had uneven decreasing of the distribution of the radiopharmaceutical drug in the injured areas, most often in the middle and lower areas of the lungs, sometimes along the whole lung areas. Density of radiopharmaceutical distribution in these areas was decreased in comparison with the adjoining lung tissue. The functional area of parenchyma and the form of the organ were not changed.

  16. The "pirate sign" in fibrous dysplasia.

    Science.gov (United States)

    Singnurkar, Amit; Rush, Chris

    2006-11-01

    Fibrous dysplasia commonly involves the skull in both its monostotic and polyostotic variants. We present two cases of fibrous dysplasia involving the sphenoid wing, which were strikingly similar in their bone scan appearance. Both patients demonstrated intense increased uptake of Tc-99m MDP in a pattern reminding us of a "pirate wearing an eyepatch." We propose that this characteristic appearance of fibrous dysplasia of the sphenoid wing be called the "pirate sign." A review of the literature revealed several other pathologic conditions that have been reported to involve the sphenoid bone and should be considered in the differential diagnosis of abnormal bone tracer uptake in this region.

  17. Posttraumatic Cranial Cystic Fibrous Dysplasia

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    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.

  18. Renal infarction complicating fibromuscular dysplasia.

    Science.gov (United States)

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

    2014-01-01

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

  19. Ectodermal Dysplasia Skin Fragility Syndrome

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    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.

  20. Developmental hip dysplasia in adolescence

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    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.

  1. Camptomelic dysplasia: A case report

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    Koš Radmila

    2007-01-01

    Full Text Available Campomelic/camptomelic dysplasia is a very rare, severe osteochondrodysplasia characterised by severe skeletal and nonskeletal malformations and lethal outcome mainly in neonatal period. Characteristic abnormality by which the syndrome got its name is short, bowed long bones of lower extremities, most often of femur, manifested by short and bowed legs. Skin dimpling on tibial anterior side is another prominent characteristic of this syndrome. Severe cases are inherited by autosomal dominant trait, by mutation Sox9 gene on chromosome 17, with lethal outcome in the first days of life. Less severe forms of the disease are due to balanced translocation t (13;17 with life span up to the third decade of life. A majority of karyotypic males present as phenotypic females. We report a case of a female neonate, without consanguinity between parents, with characteristic signs of camptomelic dysplasia with short birth length of 46 cm, macrocephaly (head circumference 39 cm, dolichocephaly, hydrocephalus, short trunk and legs. Narrow rib cage, bowed lower extremities, short hand and foot phalanges, nail hypoplasia were noticed. Anterior fontanelle was enlarged, high forehead, face small and flat, hypertelorism, low nasal bridge, micrognathia, low set ears, cleft palate, were found. Characteristic skin dimpling on anterior side of tibia was present on both legs. Bone X-ray studies presented the following changes: anterior bowing of shortened femurs, hip dislocation, cervical vertebrae, scapulas, eleven pairs of slender ribs. Hip luxation. Karyotype was normal for a female, 46 XX. Respiratory insufficiency was present since birth, exacerbated, and led to lethal outcome in the second day of life, as described in the majority of these patients. .

  2. A rare case of allergic bronchopulmonary mycosis caused by Alternaria alternata.

    NARCIS (Netherlands)

    Chowdhary, A.; Agarwal, K.; Randhawa, H.S.; Kathuria, S.; Gaur, S.N.; Najafzadeh, M.J.; Roy, P.; Arora, N.; Khanna, G.; Meis, J.F.G.M.

    2012-01-01

    A rare case of allergic bronchopulmonary mycosis (ABPM), caused by Alternaria alternata, is reported in an immunocompetent resident of Delhi. Her complaints included a generalized, urticarial skin rash and occasional pain in the right lower chest. Her differential count showed eosinophils, 22%; abso

  3. Allergic bronchopulmonary mycosis due to co-infection with Aspergillus fumigatus and Schizophyllum commune

    Directory of Open Access Journals (Sweden)

    Masafumi Seki

    2014-01-01

    Full Text Available A 61-year-old female presented with eosinophilic pneumonia accompanied by bronchial asthma. She was finally diagnosed with allergic bronchopulmonary mycosis (ABPM due to co-infection with Aspergillus fumigatus and Schizophyllum commune detected by genetic analysis of the plug and from cultures.

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

    Institute of Scientific and Technical Information of China (English)

    TANG Rui; ZHANG Hong-yu

    2010-01-01

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

  5. 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

  6. Mandibuloacral Dysplasia in An Iranian Girl

    Directory of Open Access Journals (Sweden)

    F. Abbasi

    2006-07-01

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

  7. 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

  8. Bilateral anophthalmia with septo-optic dysplasia

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    Manisha Jana

    2010-01-01

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

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

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    Nataliya Ivasyk

    2015-08-01

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

  10. Developmental dysplasia of the hip

    Directory of Open Access Journals (Sweden)

    Shahryar Noordin

    2010-10-01

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

  11. Etiology and pathogenesis of ectodermal dysplasias.

    Science.gov (United States)

    Itin, Peter H

    2014-10-01

    Ectodermal dysplasias are a large group of heterogeneous heritable conditions characterized by congenital defects of one or more ectodermal structures and their appendages. The skin and its appendages are mainly composed by ectodermal components but development initiation of appendages is orchestrated by signals of the mesoderm with the help of placodes. A complex network of signaling pathways coordinates the formation and function of ectodermal structures. In recent years much has been discovered regarding the molecular mechanisms of ectodermal embryogenesis and this facilitates a rational basis for classification of ectodermal dysplasia. Interestingly, not only complex ectodermal syndromes but also mono- or oligosymptomatic ectodermal malformations may result from a mutation in a gene that is critical for ectodermal development. Mesodermal, and occasionally endodermal malformations may coexist. Embryogenesis occurs in distinct tissue organizational fields and specific interactions among the germ layers exist that may lead to a wide range of ectodermal dysplasias. Of the approximately 200 different ectodermal dysplasias, about 80 have been characterized at the molecular level with identification of the genes that are mutated in these disorders. Modern molecular genetics will increasingly elucidate the basic defects of these distinct syndromes and shed more light into the regulatory mechanisms of embryology. The upcoming classification of ectodermal dysplasias will combine detailed clinical and molecular knowledge.

  12. 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

  13. Technology of physical rehabilitation of children with bronchopulmonary diseases in the conditions of hospitalization

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    Nataliya Ivasyk

    2016-10-01

    Full Text Available Purpose: the development of technology of physical rehabilitation of children with bronchopulmonary diseases. Material & Methods: general scientific – analysis, conception and generalization, synthesis, comparison, abstraction. Results: technology of physical rehabilitation for children with bronchopulmonary diseases (BD, which is directed to the restoration and the development of physiological functions of a child, the prevention of synchronization of sharp processes, the elimination of negative changes in health of a child, the assistance in creation of conditions for adaptation to changes as a result of disease in life situations, is offered. Conclusions: the program and its activity including basic and variable components is the compound of the offered technology of physical rehabilitation for children with BD in the conditions of hospitalization.

  14. Anatomical arrangement of the lobar bronchi, broncho-pulmonary segments and their variations

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    Sathidevi V. K.

    2016-11-01

    Conclusions: In man there is an increase in the number of bronchial generations and alveoli after birth. An increase in their size was noted as well. Thus the study of variations in the pattern of bronchopulmonary segments aids the clinician very much. It is necessary for Thoracic Surgeons, Anaesthetists, Chest physicians, Radiologists, Ultrasonologists, Pathologists and Anatomists for investigative procedures, diagnosis and various treatment modalities including surgeries like segmentectomy. [Int J Res Med Sci 2016; 4(11.000: 4928-4932

  15. 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. N...

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

    Science.gov (United States)

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

    1991-02-01

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

  17. Cleido cranial dysplasia: report of a family.

    Science.gov (United States)

    González López, Blanca Silvia; Ortiz Solalinde, Clara; Kubodera Ito, Toshio; Lara Carrillo, Edith; Ortiz Solalinde, Estela

    2004-12-01

    A family case of Cleidocranial Dysplasia is presented. A mother and two adolescent girls were examined. In all three cases, a radiological series was performed over the entire body. Generalized dysplasia in bones, prolonged retention of primary teeth, and delayed eruption of permanent, as well as supernumerary teeth was diagnosed. The citogenetic study with GTG band showed normal 46, XX. Bilateral audiometry in the mother demonstrated a mild to moderate hypoacustic condition. Radiological findings are presented and the importance of early diagnosis is discussed.

  18. The Bone Dysplasia Ontology: integrating genotype and phenotype information in the skeletal dysplasia domain

    Directory of Open Access Journals (Sweden)

    Groza Tudor

    2012-03-01

    Full Text Available Abstract Background Skeletal dysplasias are a rare and heterogeneous group of genetic disorders affecting skeletal development. Patients with skeletal dysplasias suffer from many complex medical issues including degenerative joint disease and neurological complications. Because the data and expertise associated with this field is both sparse and disparate, significant benefits will potentially accrue from the availability of an ontology that provides a shared conceptualisation of the domain knowledge and enables data integration, cross-referencing and advanced reasoning across the relevant but distributed data sources. Results We introduce the design considerations and implementation details of the Bone Dysplasia Ontology. We also describe the different components of the ontology, including a comprehensive and formal representation of the skeletal dysplasia domain as well as the related genotypes and phenotypes. We then briefly describe SKELETOME, a community-driven knowledge curation platform that is underpinned by the Bone Dysplasia Ontology. SKELETOME enables domain experts to use, refine and extend and apply the ontology without any prior ontology engineering experience--to advance the body of knowledge in the skeletal dysplasia field. Conclusions The Bone Dysplasia Ontology represents the most comprehensive structured knowledge source for the skeletal dysplasias domain. It provides the means for integrating and annotating clinical and research data, not only at the generic domain knowledge level, but also at the level of individual patient case studies. It enables links between individual cases and publicly available genotype and phenotype resources based on a community-driven curation process that ensures a shared conceptualisation of the domain knowledge and its continuous incremental evolution.

  19. The other hip in unilateral hip dysplasia

    DEFF Research Database (Denmark)

    Jacobsen, Steffen; Rømer, Lone; Søballe, Kjeld

    2006-01-01

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

  20. 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.

  1. Optic nerve decompression for orbitofrontal fibrous dysplasia.

    Science.gov (United States)

    Abe, Takumi; Sato, Kaneshige; Otsuka, Takaharu; Kawamura, Noriyoshi; Shimazu, Motohiko; Izumiyama, Hitoshi; Matsumoto, Kiyoshi

    2002-08-01

    Orbitofrontal fibrous dysplasia often involves the bony orbit and the optic canal. Although fibrous dysplasia reportedly produces compression of the optic nerve leading to visual distrubances, optic nerve decompression in patients without clinical signs of optic neuropathy is still controversial. We describe two patients with orbitofrontal fibrous dysplasia without signs of visual disturbance and one patient with McCune-Albright syndrome and progressive visual impairment. Optic nerve decompression was performed prophylactically for two patients and therapeutically for one patient through the transcranial extradural route. Dystopias and craniofacial deformities induced by fibrous dysplasia also were corrected. The micropressure suction-irrigation system was especially effective for decreasing heat transfer and thereby preventing thermal injury of the optic nerve. The orbitofrontal area was reconstructed from cranial bone, iliac bone, and ribs. Postoperative follow-up revealed no disturbances in visual function and no evidence of cerebrospinal fluid leakage. These findings suggest that optic nerve decompression may be effective in preventing visual disturbances with minimal risk of other neurological sequelae. Subsequent orbital reconstruction yielded satisfactory cosmetic results.

  2. Prophylactic intramedullary nailing in monostotic fibrous dysplasia.

    Science.gov (United States)

    Demiralp, Bahtiyar; Ozturk, Cagatay; Ozturan, Kutay; Sanisoglu, Yavuz S; Cicek, Ilker E; Erler, Kaan

    2008-06-01

    Fibrous dysplasia of bone is an enigma with no known cure. Treatment currently consists of curettage and bone-grafting in an attempt to eradicate the lesion and to prevent progressive deformity. This study presents the results of prophylactic intramedullary nailing in 10 patients with monostotic fibrous dysplasia, pain increasing with movement, and scintigraphically established activity. Ten patients with monostotic fibrous dysplasia in their upper or lower extremities treated between 2001 and 2003 were included in the study. Seven patients were male and 3 were female; their mean age was 26.9 years. The mean duration of follow-up was 33.5 months. Closed intramedullary nail without reaming was used in all cases. Bone grafting was not performed. Patients were allowed full weight bearing on the affected extremities on the second postoperative day. Mean VAS for functional pain was 5.33 +/- 0.65 preoperatively and 2.26 +/- 0.57 at final follow-up (p < 0.05). Radiographs showed no changes in lesion size, and the intramedullary fixation appeared to be stable. Prophylactic intramedullary nailing appeared to be beneficial in monostotic fibrous dysplasia with scintigraphically proven activity and functional pain. It also avoids problems that may occur following pathological fracture.

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

    Directory of Open Access Journals (Sweden)

    Partha Sen

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

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

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    Karel Geboes

    1999-01-01

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

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

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    M. V. Sheyanov

    2014-07-01

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

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

    Directory of Open Access Journals (Sweden)

    M. V. Sheyanov

    2011-01-01

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

  7. 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.

  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. 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.

  10. Cardiac sarcoidosis mimicking right ventricular dysplasia.

    Science.gov (United States)

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

    2003-02-01

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

  11. Atypical parakeratosis: a marker of dysplasia?

    Science.gov (United States)

    Voytek, T M; Kannan, V; Kline, T S

    1996-11-01

    The Bethesda System categorizes atypical parakeratosis (APK) as "ASCUS or SIL depending on the degree of cellular abnormalities." APK, however, is not well-defined. We retrospectively reviewed 68 cervicovaginal specimens with follow-up material to identify specific criteria and clinical significance of APK. APK cells were small cells, 2-3 times the diameter of neutrophil, with dense, orangeophilic cytoplasm, high nuclear cytoplasmic ratio, dense, often uneven chromatin, and irregular nuclear contour. Of 62 cases with APK, 37 had accompanying dysplastic cells. Of 25 cases with APK alone, follow-up revealed 12 with squamous intraepithelial lesion (5 HSIL and 7 LSIL) and 13 with benign changes. A major diagnostic pitfall of APK was inflammation with degeneration. Abundant APK cells, minimal inflammation and degeneration, and previous history of dysplasia frequently were associated with follow-up SIL. The findings of this study identify APK as an important marker for dysplasia that warrants careful evaluation and follow-up.

  12. Arrhythmogenic right ventricular dysplasia: A case report

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    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.

  13. Distinctive skeletal dysplasia in Cockayne syndrome

    Energy Technology Data Exchange (ETDEWEB)

    Silengo, M.C.; Franceschini, P.; Bianco, R.; Biagioli, M.; Pastorin, L.; Vista, N.; Baldassar, A.; Benso, L.

    1986-03-01

    Cockayne syndrome is a well-known autosomal recessive form of dwarfism with senile-like appearance. Skeletal changes such as flattening of vertebral bodies, ivory epiphyses and thickening of cranial vault, have been observed in some patients with this condition. We describe here a 5.5-year-old girl with the typical clinical signs of Cockayne syndrome and a distinctive form of bone dysplasia with major involvement of the spine.

  14. 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.)

  15. Monostotic fibrous dysplasia with Raynaud's phenomenon.

    Science.gov (United States)

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

    2015-01-01

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

  16. A Case Report of Camptomelic Dysplasia

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    Zia Islami

    2011-09-01

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

  17. Malignant transformation of fibrous dysplasia into chondroblastic osteosarcoma

    Energy Technology Data Exchange (ETDEWEB)

    Kaushik, Shaifali [Department of Radiology, Medical College of Virginia, Virginia Commonwealth University, Richmond, VA (United States); Department of Radiology, Medical College of Virginia, Virginia Commonwealth University, Richmond, VA (United States); Smoker, Wendy R.K. [Department of Radiology, Medical College of Virginia, Virginia Commonwealth University, Richmond, VA (United States); Frable, William J. [Department of Pathology, Medical College of Virginia, Virginia Commonwealth University, Richmond, VA (United States)

    2002-02-01

    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.)

  18. Thanatophoric Dysplasia; a Rare Case Report on a Congenital Anomaly

    Directory of Open Access Journals (Sweden)

    Maria Francis Yuvaraj

    2017-01-01

    Full Text Available The rare form of skeletal dysplasia is thanatophoric dysplasia. The meaning for thanatophoric dysplasia is death bearing which is derived from Greek word. It occurs 1in 20,000 to 50,000. It is mainly due to mutations in the fibroblast growth factor receptor 3gene. Features of thanatophoric dysplasia are frontal bossing, prominent eyes, narrow thorax, protruded abdomen and bowed legs. The knowledge about this condition is useful in the fields of Anatomy, Paediatrics, Obstetrics and Gynaecology, Ultrasonagraphy and Genetics, for future research purpose.

  19. The Ectodermal Dysplasias : Severe Palmoplantar Hyperkeratosis And Chronic Angular Cheilitis

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    Mahajan Vikram K

    2003-01-01

    Full Text Available The ectodermal dysplasias are congenital, non-progressive and diffuse disorders affecting primarily the tissues derived from ectoderm. Over a period, their classification has become confusing due to indiscriminate use of them “ectodermal dysplasia” for numerous syndromes with a defect in one or more epidermal defect in each element of skin; their precise classification appears difficult as yet. Only X-linked recessive ectodermal dysplasia (Christ-Siemens-Touraine syndrome remains best defined. This paper describes three cases of ectodermal dysplasias highlighting their overlapping features.

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

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    I.A. Norkin

    2009-09-01

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

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

    Directory of Open Access Journals (Sweden)

    Baier R John

    2004-12-01

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

  2. 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

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    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.

  3. Marfan syndrome with multiseptate pneumothorax and mandibular fibrous dysplasia

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    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.

  4. The role of the acetabular labrum in hip dysplasia

    DEFF Research Database (Denmark)

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

    2013-01-01

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

  5. Cleidocranial dysplasia: Report of 4 cases and review

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    Virender Gombra

    2008-01-01

    Full Text Available Patients with cleidocranial dysplasia commonly present with significant dental problems such as retention of multiple deciduous teeth, impaction or delay in eruption of permanent teeth and often, the presence of supernumerary teeth. We report 4 cases of 2 families presenting with cleidocranial dysplasia disorder with their clinical and radiological diagnosis and illustrating its pathogenesis and various treatment modalities, review of literatures.

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

    Energy Technology Data Exchange (ETDEWEB)

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

    2013-04-15

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

  7. Dyssegmental dysplasia in siblings: Prenatal ultrasonic diagnosis

    Energy Technology Data Exchange (ETDEWEB)

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

    1988-01-01

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

  8. Tibia Vara due to Focal Fibrocartilaginous Dysplasia

    Directory of Open Access Journals (Sweden)

    A Tavakoli

    2004-06-01

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

  9. 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.)

  10. [Importance of hand films in skeletal dysplasia (author's transl)].

    Science.gov (United States)

    Fendel, H

    1976-07-01

    The hand, as part of the skeleton, is generally involved in systemic skeletal dysplasia. However, the degree of abnormalities differs considerably in the various types of dysplasia. In some, abnormal appearance of the hand predominates, in other dysplasia films of the hand provide only little or no useful diagnostic information. At their first examination for growth disorders children often reveal bone dysplasia on roentgenograms of the hand. Therefore, evaluation of hand films should be done as thoroughly as possible. Morphologic and/or metric deviations of the hand may bring the first suspicion although they are not fully diagnostic. Systemic skeletal dysplasia should be diagnosed or excluded by additional adequate radiologic and other clinical examinations.

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

    Science.gov (United States)

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

    2014-11-04

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

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

    Science.gov (United States)

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

    2014-01-01

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

  13. Typical and atypical bronchopulmonary carcinoid tumors: a clinicopathologic and KI-67-labeling study.

    Science.gov (United States)

    Costes, V; Marty-Ané, C; Picot, M C; Serre, I; Pujol, J L; Mary, H; Baldet, P

    1995-07-01

    Expression of a proliferating antigen by KI-67 immunohistochemistry was analyzed with a SAMBA 2005 computer-assisted image processor (Traitement de l'Information for des Techniques Nouvelles, Grenoble, France) in 47 surgically resected bronchopulmonary carcinoids embedded in paraffin. The clinicopathologic characteristics and KI-67 labeling, expressed in percentage of stained nuclear surface relative to the total nuclear surface, of 31 typical carcinoids and 16 atypical carcinoids were compared and assessed with respect to patient survival. The proliferation status was significantly higher in histologically atypical than in typical carcinoids. Moreover, using a 4% cutoff, we observed a significant difference for the 4-year overall survival rate. Semiquantitative analysis of the proliferation index by KI-67 immunostaining seemed to be an effective means of identifying high risk subsets among patients with histologically atypical carcinoids and for whom adjuvant chemotherapy could be proposed.

  14. Allergic bronchopulmonary aspergillosis in garden waste (compost) collectors--occupational implications.

    Science.gov (United States)

    Poole, C J M; Wong, M

    2013-10-01

    The separation of rotting garden material from general domestic waste and its collection for processing in industrial composting sites is a relatively new industry in the UK. Two cases of allergic bronchopulmonary aspergillosis and the results of health surveillance are described in a team of 28 garden waste (compost) collectors. A few cases of extrinsic allergic alveolitis due to Aspergillus fumigatus have previously been reported in compost workers. In the absence of any guidance from research and to prevent similar cases of a potentially serious illness, we advise that new starters to the job of collecting or processing compost are screened for asthma and aspergillus sensitivity, cystic fibrosis, bronchiectasis and immunodeficiency if their exposure to high levels of Aspergillus sp cannot be controlled. Annual health surveillance for these workers is also recommended.

  15. 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.

  16. An extremely rare case: osteosclerotic metaphyseal dysplasia.

    Science.gov (United States)

    Kasapkara, C S; Küçükçongar, A; Boyunağa, O; Bedir, T; Oncü, F; Hasanoğlu, A; Tümer, L

    2013-01-01

    OMD (osteosclerotic metaphyseal dysplasia) is a very rare sclerosing bone disorder, first described by G. Nishimura in two Japanese siblings in 1993 (6). We report the case of a 12-month-old male with hypotonia, developmental delay and sclerosis of the metaphyses and epiphyses of specific bones. This 36-week gestation boy was born to a 26 year old gravida 5 para 1 Turkish mother and a 27 year old nonconsanguineous father. Radiographic findings obtained during the hospital stay included bilateral symmetrical osteosclerosis of the metaphyseal portions of the long bones in the upper and lower extremities with osteopenic shafts. Narrow bands of metaphyseal osteosclerosis were detected in the short tubular bones of the hands and feet. Growing parts of bilateral scapula, iliac, pubic and ischial bones show sclerotic bands. In addition superior and inferior plates of vertebras, transverse processes of sacral vertebras, all visible epiphyses, carpal and tarsal bones also show sclerotic changes. The scalp was unaffected. Based on the clinical, radiographic, and laboratory findings, a diagnosis of OMD was made. We do not know any of the osteosclerotic bone disorder with changes including hypotonia, mental and motor developmental delay and metaphyseal sclerosis of the bones with a unique distribution except OMD. The syndrome is characterized by developmental delay of a progressive nature, hypotonia, elevated alkaline phosphatase, and late-onset spastic paraplegia 18 years ago. Our patient is the 4th case of OMD described in the literature share some clinical and radiological similarities with other three reported cases of osteosclerotic metaphyseal dysplasias.

  17. 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.

  18. A Case of Placental Mesenchymal Dysplasia

    Directory of Open Access Journals (Sweden)

    Shigeki Taga

    2013-01-01

    Full Text Available Placental mesenchymal dysplasia (PMD rarely complicates with pregnancy. A 30-year-old woman, gravida 3, para 3, presenting with placentomegaly, was referred to our department at 18 weeks of gestation. An ultrasonography revealed a normal fetus with a large multicystic placenta, measuring 125 × 42 × 80 mm. The border between the lesion and normal region was not clear. Color doppler revealed little blood flow in the lesion. Magnetic resonance imaging revealed normal fetus and a large multicystic placenta. Serum human chorionic gonadotropin level was 20124.97 U/L, which was normal at 20 weeks of gestation. Thus, placental mesenchymal dysplasia rather than hydatidiform mole with coexistent fetus was suspected. Then, routine checkup was continued. Because she had the history of Cesarean section, an elective Cesarean section was performed at 37 weeks of gestation, and 2520 g female infant with apgar score 8/9 was delivered. The baby was normal with no evidence of Beckwith-Wiedemann syndrome. Placenta of 20 × 16 × 2 cm, weighing 720 g, was bulky with grape like vesicles involving whole placenta. Microscopic examination revealed dilated villi and vessels with thick wall which was lacking trophoblast proliferation. Large hydropic stem villi with myxomatous struma and cistern formation were seen. PMD was histopathologically confirmed.

  19. 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.

  20. Occurrence of allergic bronchopulmonary mycosis in patients with asthma: An Eastern India experience

    Directory of Open Access Journals (Sweden)

    Sarkar Anirban

    2010-01-01

    Full Text Available Background: Allergic bronchopulmonary mycosis (ABPM is a clinical syndrome associated with immune sensitivity to various fungi notably Aspergillus spp. that colonize the airways of asthmatics. Early diagnosis and treatment with systemic corticosteroids is the key in preventing the progression of the disease to irreversible lung fibrosis. Aims: To study the occurrence of ABPM among asthma patients with fungal sensitization attending a chest clinic of a tertiary hospital of eastern India. The clinico-radiological and aetiological profiles are also described. Materials and Methods: All consecutive patients with asthma presenting to the chest clinic over a period of one year were screened for cutaneous hypersensitivity to 12 common fungal antigens. The skin test positive cases were further evaluated for ABPM using standard criteria. Results: One hundred and twenty-six asthma patients were screened using twelve common fungal antigens; forty patients (31.74% were found to be skin test positive, and ABPM was diagnosed in ten patients (7.93%. Of the 10 cases of ABPM, nine cases were those of allergic bronchopulmonary aspergillosis (ABPA and one case was identified as caused by sensitization to Penicillium spp. A majority of the cases of ABPM had advanced disease and had significantly lower FEV1 compared to non-ABPM skin test positive asthmatics. Central bronchiectasis on high resolution CT scan was the most sensitive and specific among the diagnostic parameters. Conclusion: There is a significant prevalence of ABPM in asthma patients attending our hospital and this reinforces the need to screen asthma patients for fungal sensitisation. This will help in early diagnosis and prevention of irreversible lung damage.

  1. Bronchopulmonary infection with lophomonas blattarum: two cases report and literature review

    Institute of Scientific and Technical Information of China (English)

    Yao Guozhong

    2008-01-01

    Objective: To improve the recognition and diagnosis on the bronchopulmonary infection with Lophomonas blattarum (L. blattarum). Methods: The clinical characteristics of 2 patients diagnosed and treated in our hospital were reported, and 42 cases that had been reported from years 1993 to 2007 are analyzed. Results: In our report, the firs tpatient attacked serious asthma time after time, the second patient suffered from bronchiectasis with a protracte dinfection course. Forty-four cases all have pathogen examination and parasitic expertise. The most common symptoms are fever, cough and expectoration. 1/3 of the patients have increased acidophilic granulocyte in peripheral blood. Chest X film and CT scanning suggest changes were similar to pneumonia. Chronic cases are manifested with bronchial asthma, bronchiectasis and pulmonary abscess. L. blattarum found in phlegm or specimen collected by bronchoscopy provides the most reliable evidence for the diagnosis of this disease. Conclusion: Bronchopulmonary L. blattarum infection is a new kind of diseases. The clinical manifestations are similar to pneumonia, asthma, bronchiectasis infection or pulmonary abscess. L. blattarum found in sputum smear, bronchoscopic brush smear, bronchoscopic biopsy smear, or bronchoalceolar lavage under microscope is the foundation of the diagnosis. The pathogen species has not been finally confirmed. It is still unclear how the pathogen exists in the natural environment, how to transmit to persons and what kind of people would suffer from the disease more easily. Treatment only with antibiotics is not effective to this disease. Metronidazole with dosage of 0.5 g per time and twice per day was effective to most patients, the period of treatment need to last 14-38 d, but multidrug resistance case had been reported.

  2. 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.

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

    Science.gov (United States)

    Serra, Stefano; Chetty, Runjan

    2014-10-01

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

  4. Ectodermal dysplasias associated with clefting: significance of scalp dermatitis.

    Science.gov (United States)

    Fosko, S W; Stenn, K S; Bolognia, J L

    1992-08-01

    Several clinical syndromes are characterized by ectodermal dysplasia (ED) in association with clefting of the lip and/or palate. The three most commonly recognized entities are (1) the EEC syndrome (ectodermal dysplasia, ectrodactyly, cleft lip/palate); (2) the Rapp-Hodgkin syndrome with ectodermal dysplasia, cleft lip/palate, and mid facial hypoplasia; and (3) the Hay-Wells or AEC syndrome (ankyloblepharon, ectodermal defects, cleft lip/palate). The clinical characteristics of these entities as well as several less common syndromes are reviewed and summarized. The presence of scalp dermatitis in patients with the AEC syndrome and less often the Rapp-Hodgkin syndrome is emphasized.

  5. Fibrous Dysplasia versus Juvenile Ossifying Fibroma: A Dilemma.

    Science.gov (United States)

    Nair, Sreelakshmi N; Kini, Raghavendra; Rao, Prasanna Kumar; Bhandarkar, Gowri P; Kashyp, Roopashri Rajesh; Rai, Manjunath; Naik, Neel; Santhosh, Athul

    2016-01-01

    Fibrous dysplasia (FD) is a condition characterized by excessive proliferation of bone forming mesenchymal cells which can affect one bone (monostotic type) or multiple bones (polyostotic type). It is predominantly noticed in adolescents and young adults. Fibrous dysplasia affecting the jaws is an uncommon condition. The most commonly affected facial bone is the maxilla, with facial asymmetry being the chief complaint. The lesion in many instances is confused with ossifying fibroma (OF). Diagnosis of these two lesions has to be done based on clinical, radiographic, and microscopic findings. Here, we present a case of fibrous dysplasia of maxilla in a nine-year-old boy mimicking juvenile ossifying fibroma.

  6. 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

  7. Fibrous Dysplasia versus Juvenile Ossifying Fibroma: A Dilemma

    Science.gov (United States)

    Rao, Prasanna Kumar; Bhandarkar, Gowri P.; Rai, Manjunath; Naik, Neel; Santhosh, Athul

    2016-01-01

    Fibrous dysplasia (FD) is a condition characterized by excessive proliferation of bone forming mesenchymal cells which can affect one bone (monostotic type) or multiple bones (polyostotic type). It is predominantly noticed in adolescents and young adults. Fibrous dysplasia affecting the jaws is an uncommon condition. The most commonly affected facial bone is the maxilla, with facial asymmetry being the chief complaint. The lesion in many instances is confused with ossifying fibroma (OF). Diagnosis of these two lesions has to be done based on clinical, radiographic, and microscopic findings. Here, we present a case of fibrous dysplasia of maxilla in a nine-year-old boy mimicking juvenile ossifying fibroma. PMID:28101383

  8. Ceramide profile in hypohidrotic ectodermal dysplasia

    DEFF Research Database (Denmark)

    Jungersted, J. M.; Høgh, Julie Kaae; Hellgren, Lars

    2012-01-01

    Background. Hypohidrotic ectodermal dysplasia (HED) is a rare genetic disease. The clinical presentation includes lack of sweating ability, and an often widely spread dermatitis resembling atopic dermatitis (AD). In AD, the skin‐barrier defect is partly ascribed to the altered lipid profile...... in the stratum corneum and partly to mutations of the filaggrin genes. To our knowledge, no data are available about the epidermal lipid profile of HED. Aim. To compare the ceramide profile for patients with HED and AD. Methods. The ceramide profile and ceramide/cholesterol ratio were compared between patients...... ceramide 1, which was significantly higher in HED (P = 0.04). Conclusions. The increased ceramide 1 level found in HED compared with AD is known to play a role in the structure of the lipid bilayers. However, further studies are needed to identify the functional significance of these observations...

  9. 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 neuroendocrine...... tumours. These guidelines essentially cover basic knowledge in the diagnosis and management of the different forms of neuroendocrine tumour. We have, however, tried to give more updated information about the epidemiology and histopathology, which is essential for the clinical management of these tumours....

  10. 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.

  11. 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.

  12. 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

  13. Axial mesodermal dysplasia complex: a new case with parental consanguinity.

    Science.gov (United States)

    Mota, C R; Azevedo, M; Rocha, G; Manuela, F; Coelho, R; Lima, M R

    2000-01-01

    A female is described with axial mesodermal dysplasia complex (AMDC) born to a consanguineous couple. This is thought to be the first description of a patient with AMDC born to consanguineous parents.

  14. 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.

  15. Streeter Dysplasia, from Pelvic to Digits: A Case Report

    OpenAIRE

    Komang Agung Irianto; Luh Gede Djatu Anggita Dewi; Gana Adyaksa

    2016-01-01

    Background: Streeter dysplasia is a term to describe fetal congenital syndrome which mainly characterized by constriction band on appendages, prenatal amputations of extremities, and acrosyndactyly. This syndrome has wide range of clinical manifestation between patients, as reflected by many other terms to describe this syndrome. Case: The author reported five cases of Streeter dysplasia with constriction band on different locations of the body, with a patient having a constriction band aroun...

  16. 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.

  17. 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

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

    Energy Technology Data Exchange (ETDEWEB)

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

    1989-09-01

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

  19. 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.

  20. T1/ST2 promotes T helper 2 cell activation and polyfunctionality in bronchopulmonary mycosis.

    Science.gov (United States)

    Piehler, D; Grahnert, A; Eschke, M; Richter, T; Köhler, G; Stenzel, W; Alber, G

    2013-03-01

    Interleukin (IL)-33 enhances T helper (Th)2 immunity via its receptor T1/ST2. Infection with the yeast-like pathogen Cryptococcus neoformans is usually controlled by a Th1-mediated immune response. The mechanisms responsible for nonprotective Th2 immunity leading to allergic inflammation in pulmonary cryptococcosis are still not fully understood. Using a murine pulmonary model of C. neoformans infection, we report that T1/ST2 expression correlates with the intensity of Th2 activation, as demonstrated by the expression of CD25 and CD44 and downregulation of CD62L. Antigen-specific T1/ST2(+) Th cells are the primary source of the Th2 cytokines IL-5 and IL-13 as compared with wild-type T1/ST2(-) Th cells or Th cells from T1/ST2(-/-) mice. In addition, T1/ST2(+) Th cells almost exclusively contain bi- and trifunctional Th2 cytokine-producing Th cells compared with T1/ST2(-) Th cells or Th cells from T1/ST2(-/-) mice. Finally, T1/ST2-driven Th2 development resulted in defective pulmonary fungal control. These data demonstrate that T1/ST2 directs Th2 cell activation and polyfunctionality in allergic bronchopulmonary mycosis.

  1. Mandibuloacral dysplasia type A in childhood.

    Science.gov (United States)

    Garavelli, L; D'Apice, M R; Rivieri, F; Bertoli, M; Wischmeijer, A; Gelmini, C; De Nigris, V; Albertini, E; Rosato, S; Virdis, R; Bacchini, E; Dal Zotto, R; Banchini, G; Iughetti, L; Bernasconi, S; Superti-Furga, A; Novelli, G

    2009-10-01

    Mandibuloacral dysplasia type A (MADA) is characterized by growth retardation, postnatal onset of craniofacial anomalies with mandibular hypoplasia, progressive acral osteolysis, and skin changes including mottled pigmentation, skin atrophy, and lipodystrophy. Owing to its slowly progressive course, the syndrome has been recognized in adults, and pediatric case reports are scarce. We present the clinical case of two children in whom the diagnosis of MADA was made at an unusually early age. A 5-year-old boy presented with ocular proptosis, thin nose, and short and bulbous distal phalanges of fingers. A 4-year-old girl presented with round face and chubby cheeks, thin nose, bulbous fingertips, and type A lipodystrophy. In both, a skeletal survey showed wormian bones, thin clavicles, short distal phalanges of fingers and toes with acro-osteolysis. Both children were found to be homozygous for the recurrent missense mutation, c.1580G>A, (p.R527H) in exon 9 of the LMNA gene. Thus, the phenotype of MADA can be manifest in preschool age; diagnosis may be suggested by short and bulbous fingertips, facial features, and lipodystrophy, supported by the finding of acral osteolysis, and confirmed by mutation analysis.

  2. [Imaging of oto-mandibular dysplasias].

    Science.gov (United States)

    Montoya, P; Leboucq, N; Bigorre, M

    2001-10-01

    The modern imaging opened a possibility of precise exploration of otomandibular dysplasias. The techniques of browsing by IRM and CT Scan and the software of image processing which is associated with these techniques (three-dimensional, superposition and removing of the anatomical structures) allow to carry out a true anatomical dissection of the whole of these malformative syndromes. The study of the skeletal anomalies gains by specifying the disorders of development of the various mandibular segments: temporomandibular joint, ramus and horizontal branch and also, all cranio-maxillar structures: orbital rim, cranial basis. Study of masticatory muscles shows an important damage correlated with skeletal troubles and performs a grading of morphological and functional gravity. This analytical study emphasizes some malformative axis: malar axis in cases of mandibulofacial dystosis, temporomandibular axis in hemifacial microsomia. Modern imaging can appreciate, by development of three-dimensional cephalometry, growth anomalies and quantification of post therapeutical results. At last usefulness of imaging appears in therapeutic modelisation and in the field of Computer-Aided Planning of surgical techniques of osteotomies and overall maxillaries distractions.

  3. Arrhythmogenic Right Ventricular Dysplasia in Neuromuscular Disorders

    Science.gov (United States)

    Finsterer, Josef; Stöllberger, Claudia

    2016-01-01

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

  4. 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

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

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    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.

  6. 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.

  7. 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.

  8. Genetics Home Reference: intrauterine growth restriction, metaphyseal dysplasia, adrenal hypoplasia congenita, and ...

    Science.gov (United States)

    ... IMAGe syndrome intrauterine growth restriction, metaphyseal dysplasia, adrenal hypoplasia congenita, and genital anomalies Enable Javascript to view ... combination of intrauterine growth restriction, metaphyseal dysplasia, adrenal hypoplasia congenita, and genital anomalies is commonly known by ...

  9. 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, ...

  10. [Unilateral pulmonary agenesis, aplasia and dysplasia].

    Science.gov (United States)

    Dembinski, J; Kroll, M; Lewin, M; Winkler, P

    2009-04-01

    Unilateral pulmonary anomalies are rare events of unknown etiology and large clinical variability. Neonatal history does not allow for a reliable prognosis. Interdisciplinary mangament includes prenatal diagnostics and obstetrics, genetics, neonatology, pediatric cardiology and surgery as well as pediatric orthopedics. Neonatal history and long-term follow-up in three patients are presented here including a discussion of prenatal diagnostics and the embryo-genetic basics of lung development. In three term neonates the diagnoses of unilateral pulmonary agenesis, aplasia and dysplasia, respectively, were based on angiography, MRI and bronchoscopy. Neonatal presentation and long-term consequences were studied in the context of the current literature. Neonatal complications ranged from mild repiratory distress to pulmonary failure requiring mechanical ventilation. One patient developed scoliosis on long-term follow-up. Cardiac failure or pulmonary hypertension did not occur during follow-up, in one case lung malformation was accompanied by VACTER-association. Unilateral lung malformation is frequently associated with other, singular or complex anomalies (e.g., renal and vascular). A possible relationship to disrupted regulation of embryo-genetic factors such as T-BOX genes, PITX2 and growth factors ( FGF10), which regulate ASYMMETRICAL pulmonary morphogenesis is discussed. Disruptive unilateral pulmonary malformations may serve as a model for embryological lung development and other anomalies (e.g., congenital diaphragmatic hernia, unilateral hypoplasia and CCAM). Prenatal diagnosis is characterized by unilateral hyperechogenicity of the affected lung. Neonatal presentation is determined by mediastinal shift which may be corrected by tissue-expander implantation. Associated anomalies require cytogenetic analysis and sequencing of currently known mutations. Long-term follow-up by echocardiography and pulmonary function testing is mandatory in these patients.

  11. Molecular Characterization and In Vitro Antifungal Susceptibility Profile of Schizophyllum commune, an Emerging Basidiomycete in Bronchopulmonary Mycoses

    OpenAIRE

    Chowdhary, Anuradha; Kathuria, Shallu; Singh, Pradeep Kumar; Agarwal, Kshitij; Gaur, Shailendra N.; Roy, Pradip; Randhawa, Harbans S.; Meis, Jacques F.

    2013-01-01

    Schizophyllum commune (n = 30) showed lowest geometric mean MICs of isavuconazole (0.19 μg/ml), itraconazole (0.2 μg/ml), voriconazole (0.24 μg/ml), and amphotericin B (0.29 μg/ml) and high geometric mean MICs of fluconazole (19.39 μg/ml) and flucytosine (17.28 μg/ml). Five cases (of 8) of allergic bronchopulmonary mycosis that were treated with itraconazole had no recrudescence after 6 to 24 months of follow-up. One case each of invasive pulmonary mycosis and fungal ball were treated success...

  12. Molecular characterization and in vitro antifungal susceptibility profile of Schizophyllum commune, an emerging basidiomycete in bronchopulmonary mycoses.

    Science.gov (United States)

    Chowdhary, Anuradha; Kathuria, Shallu; Singh, Pradeep Kumar; Agarwal, Kshitij; Gaur, Shailendra N; Roy, Pradip; Randhawa, Harbans S; Meis, Jacques F

    2013-06-01

    Schizophyllum commune (n = 30) showed lowest geometric mean MICs of isavuconazole (0.19 μg/ml), itraconazole (0.2 μg/ml), voriconazole (0.24 μg/ml), and amphotericin B (0.29 μg/ml) and high geometric mean MICs of fluconazole (19.39 μg/ml) and flucytosine (17.28 μg/ml). Five cases (of 8) of allergic bronchopulmonary mycosis that were treated with itraconazole had no recrudescence after 6 to 24 months of follow-up. One case each of invasive pulmonary mycosis and fungal ball were treated successfully with voriconazole and itraconazole.

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

    Science.gov (United States)

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

    2013-05-01

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

  14. Medical therapy for advanced gastro-entero-pancreatic and bronchopulmonary neuroendocrine tumors

    Institute of Scientific and Technical Information of China (English)

    Mariangela Torniai; Silvia Rinaldi; Francesca Morgese; Giulia Ricci; Azzurra Onofri; Christian Groh; Rossana Berardi

    2016-01-01

    Neuroendocrine tumors (NETs) represent a spectrum of rare neoplasms arising in different organism sites. Depending on the site of onset, they also can be distinguished using lab exams (secretingvs. nonsecreting), clinical symptoms (functioningvs. nonfunctioning), behavioral, morphological characteristics (tumor cells’ architectural growth patterns, mitotic and Ki-67 index, presence of necrosis), and grade of cellular differentiation. The aim of this review is to focus on the main signaling pathways targeted by medical treatments of advanced sporadic gastro-entero-pancreatic (GEP) and bronchopulmonary (BP) neuroendocrine neoplasms. The scientiifc literature regarding treatment of advanced GEP and BP-NETs has been extensively reviewed using MEDLINE and PubMed databases, selecting principal and more recent research articles, clinical trials, and updated guidelines. Somatostatin analogues represent a valid approach to control symptoms in functioning tumors and to inhibit tumor progression in certain categories on the basis of the typical somatostatin receptor expression observed in NETs. The pathogenesis of NETs has been the subject of increased interest in recent years. Many driver mutations pathway genes have been identiifed as important factors in the carcinogenesis process and, therefore, as potential targets for new anticancer therapies. Activating mutations have been shown in epidermal growth factor receptor, stem cell factor receptor, platelet-derived growth factor receptor, vascular endothelial growth factor, basic-ifbroblastic growth factor, transforming growth factor, insulin-like growth factor-1, and their receptors. Effective M-Tor inhibition pathway modulation has led to the approval of drugs in this ifeld such as everolimus. New drugs and several combination regimens with targeted and newer biological agents are being developed and tested in recently conducted and ongoing trials.

  15. Allergic bronchopulmonary aspergillosis: A review of 42 patients from a tertiary care center in India

    Directory of Open Access Journals (Sweden)

    Prasad R

    2009-01-01

    Full Text Available Objective: To study the clinical, radiological, and laboratory profile in patients of allergic bronchopulmonary aspergillosis (ABPA. Materials and Methods: Retrospective analysis of 42 cases of ABPA, diagnosed over a period of 10 years from 1995 to 2005, for their clinical, radiological, and laboratory profiles. Results: Of 42 ABPA patients, 27 were men and 17 were women. Their mean age at the time of diagnosis was 31.2 years and mean duration of illness was 12.2 years. Breathlessness was the chief symptom. Other allergic disorders existed in 17 (40.5% patients, and family history suggestive of allergic disease was present in 22 (52.4% patients. Most common chest radiographic finding was fleeting pulmonary shadows in 28 (66.7% patients. High resolution CT thorax revealed central bronchiectasis as predominant finding. Peripheral blood eosinophilia more than 1000 cells/µl, Type I and type III cutaneous reactivity to Aspergillus antigen, elevated serum titers of total IgE antibody, A. fumigatus specific IgE and IgG antibodies, and serum precipitin against A. fumigatus were positive in majority of patients, who underwent these tests. Thirty eight (90.5% patients had had history of antitubercular treatment during the course of their illness. All 42 patients met at least four criteria for the diagnosis of ABPA. Conclusion: Any patient of bronchial asthma, presenting with recurrent shadows in chest radiograph and high peripheral blood eosinophilia, should be investigated for ABPA. Efforts need to be intensified to improve the awareness level among general physicians for early diagnosis and prompt treatment of this disease to avoid misuse of antitubercular drugs.

  16. Pelvic orientation and assessment of hip dysplasia in adults

    DEFF Research Database (Denmark)

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

    2004-01-01

    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...... 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...... dysplasia in the longitudinal survey cohort of the Copenhagen City Heart Study (CCHS; Osteoarthrosis Sub-study). 1) Cadaver pelvises and proximal femurs from a male and a female donor were mounted anatomically in holding devices allowing independent inclination/reclination and rotation. An AP pelvic...

  17. 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.

  18. Radiological analysis of polyostotic fibrous dysplasia in skeletal system

    Energy Technology Data Exchange (ETDEWEB)

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

    1984-12-15

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

  19. 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.

  20. Low-dose computed tomography to diagnose fetal bone dysplasias.

    Science.gov (United States)

    Montoya Filardi, A; Guasp Vizcaíno, M; Gómez Fernández-Montes, J; Llorens Salvador, R

    We present a case of cleidocranial dysplasia diagnosed by low-dose fetal computed tomography (CT) in the 25th week of gestation. Severe bone dysplasia was suspected because of the fetus' low percentile in long bones length and the appearance of craniosynostosis on sonography. CT found no abnormalities incompatible with life. The effective dose was 5 mSv, within the recommended range for this type of examination. Low-dose fetal CT is a new technique that makes precision study of the bony structures possible from the second trimester of pregnancy. In Spain, abortion is legal even after the 22nd week of gestation in cases of severe fetal malformations. Therefore, in cases in which severe bone dysplasia is suspected, radiologists must know the strategies for reducing the dose of radiation while maintaining sufficient diagnostic quality, and they must also know which bony structures to evaluate.

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

    Directory of Open Access Journals (Sweden)

    Arzu Tay

    2013-04-01

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

  2. 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.

  3. Focal electroencephalography rhythm asymmetry due to focal skull fibrous dysplasia

    Directory of Open Access Journals (Sweden)

    Michael A. Meyer

    2014-06-01

    Full Text Available An unusual pervasive and persistent asymmetry in background rhythm was found on surface electroencephalography (EEG recordings in a 22 year old with new onset of generalized seizure activity. Radiographic correlation with computed tomography, positron emission tomography and bone scan imaging uncovered that the higher amplitude left frontal-parietal background activity was related to a circumscribed area of left frontal-parietal fibrous dysplasia affecting the skull. This case report emphasizes that the presumed higher electrical conductance of fibrous dysplasia lead to a greater transparency of normal background rhythms, and must be taken into account as a form of breach rhythm for accurate EEG interpretation.

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

    Science.gov (United States)

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

    2012-03-01

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

  5. Placental mesenchymal dysplasia associated with hepatic and pulmonary hamartoma.

    Science.gov (United States)

    Tortoledo, Maria; Galindo, A; Ibarrola, C

    2010-01-01

    This report describes a 31-week stillborn female infant with placental mesenchymal dysplasia (PMD) in association with hepatic mesenchymal hamartoma (HMH) and pulmonary hamartoma. Placental mesenchymal dysplasia was initially misdiagnosed as a partial mole. However, histologically, no trophoblastic proliferation or inclusions were observed. Differential diagnosis of the hepatic mass with similar tumors is discussed. To our knowledge, this is the first case of lung hamartoma reported in a fetus and the first case related to PMD and HMH. A common anomalous development of the mesoderm, a reparative post-injury process and a genetic mechanism, have been proposed to explain their pathogenesis.

  6. 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

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

    Science.gov (United States)

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

    2014-08-01

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

  8. 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.

  9. QT dispersion in patients with arrhythmogenic right ventricular dysplasia

    DEFF Research Database (Denmark)

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

    1999-01-01

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

  10. Comments on frontonasal dysplasia, ocular hypertelorism and dystopia canthorum.

    Science.gov (United States)

    Peterson, M Q; Cohen, M M; Sedano, H O; Frerichs, C T

    1971-06-01

    The mean canthal index values of patients with frontonasal dysplasia are tested for differences in facies A, B, C, and D. A general discussion of ocular hypertelorism and dystopia canthorum is presented. Ocular hypertelorism is considered a sign which may occur in a variety of disorders. Quantitative methods for determining ocular hypertelorism are critically reviewed.

  11. RUNX2 analysis of Danish cleidocranial dysplasia families

    DEFF Research Database (Denmark)

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

    2011-01-01

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

  12. Craniofacial and temporal bone CT findings in cleidocranial dysplasia

    Energy Technology Data Exchange (ETDEWEB)

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

    2008-08-15

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

  13. [Right ventricular dysplasia and sudden death in young people].

    Science.gov (United States)

    Maresi, E; Albano, N; Procaccianti, P; Campesi, G

    1990-06-01

    In this study two autoptic cases of right ventricular dysplasia, observed in young and asymptomatic subjects who died suddenly are reported. In these patients, the "primary" myocardial atrophy involved the right ventricle, the right atrium and the conduction system: the sinoatrial node and the internodal pathways (in both cases) and the hisian bifurcation (only in the second case). The primary ventricular dysplasia was always associated with "secondary" transmural hyperplasia of the sub-epicardial fat tissue except for the anterior wall of the pulmonary infundibulum. According to the findings observed, we think that: 1) in all cases of right ventricular dysplasia a careful examination of the conduction system must be performed due to the fact that the lethal arrhythmias can be not only "hyperkinetic" but also "hypokinetic" arrhythmias; 2) right ventricular dysplasia is a dysplastic-congenital disease and transmural fatty hyperplasia depends both on "primary" myocardial atrophy and on the presence of sub-epicardial fat tissue; the latter is related to the age of the patient.

  14. Congenital heart defects in oculodentodigital dysplasia: Report of two cases.

    Science.gov (United States)

    Izumi, Kosuke; Lippa, Andrew M; Wilkens, Alisha; Feret, Holly A; McDonald-McGinn, Donna M; Zackai, Elaine H

    2013-12-01

    Oculodentodigital dysplasia is caused by mutations in the GJA1 gene. Oculodentodigital dysplasia presents with a spectrum of clinical features including craniofacial, ocular, dental, and limb anomalies. Although recent findings implicate the major role of GJA1 during cardiac organogenesis, congenital heart defects are infrequently reported in oculodentodigital dysplasia. Here we report on two patients with GJA1 mutations presenting with cardiac malformations and type III syndactyly. Patient 1 presented with pulmonary atresia, an intact septum, right ventricular hypoplasia and tricuspid stenosis. The infant had a small nose, thin columella and bilateral 4-5 syndactyly of the fingers. A de novo c.226C>T (p.Arg76Cys) mutation was identified. Patient 2 presented at 6 months with a ventricular septal defect. The child had hypoplastic alae nasi with a thin columella and bilateral 4-5 syndactyly of the digits. A de novo missense mutation, c.145C>G (p.Gln49Glu) was found. Our two patients underscore the importance of cardiac evaluations as part of the initial workup for patients with findings of oculodentodigital dysplasia. Conversely, those patients with type III syndactyly and congenital heart defect should be screened for GJA1 mutations.

  15. Pathogenetics of alveolar capillary dysplasia with misalignment of pulmonary veins

    NARCIS (Netherlands)

    Szafranski, P.; Gambin, T.; Dharmadhikari, A.V.; Akdemir, K.C.; Jhangiani, S.N.; Schuette, J.; Godiwala, N.; Yatsenko, S.A.; Sebastian, J.; Madan-Khetarpal, S.; Surti, U.; Abellar, R.G.; Bateman, D.A.; Wilson, A.L.; Markham, M.H.; Slamon, J.; Santos-Simarro, F.; Palomares, M.; Nevado, J.; Lapunzina, P.; Chung, B.H.; Wong, W.L.; Chu, Y.W.; Mok, G.T.; Kerem, E.; Reiter, J.; Ambalavanan, N.; Anderson, S.A.; Kelly, D.R.; Shieh, J.; Rosenthal, T.C.; Scheible, K.; Steiner, L.; Iqbal, M.A.; McKinnon, M.L.; Hamilton, S.J.; Schlade-Bartusiak, K.; English, D.; Hendson, G.; Roeder, E.R.; DeNapoli, T.S.; Littlejohn, R.O.; Wolff, D.J.; Wagner, C.L.; Yeung, A.; Francis, D.; Fiorino, E.K.; Edelman, M.; Fox, J.; Hayes, D.A.; Janssens, S.; Baere, E. De; Menten, B.; Loccufier, A.; Vanwalleghem, L.; Moerman, P.; Sznajer, Y.; Lay, A.S.; Kussmann, J.L.; Chawla, J.; Payton, D.J.; Phillips, G.E.; Brosens, E.; Tibboel, D.; Klein, A.; Maystadt, I.; Fisher, R.; Sebire, N.; Male, A.; Chopra, M.; Pinner, J.; Malcolm, G.; Peters, G.; Arbuckle, S.; Lees, M.; Mead, Z.; Quarrell, O.; Sayers, R.; Owens, M.; Shaw-Smith, C.; Lioy, J.; McKay, E.; Leeuw, N. de; Feenstra, I.; Spruijt, L.; Elmslie, F.; Thiruchelvam, T.; Bacino, C.A.; Langston, C.; Lupski, J.R.; Sen, P.; Popek, E.; Stankiewicz, P.

    2016-01-01

    Alveolar capillary dysplasia with misalignment of pulmonary veins (ACDMPV) is a lethal lung developmental disorder caused by heterozygous point mutations or genomic deletion copy-number variants (CNVs) of FOXF1 or its upstream enhancer involving fetal lung-expressed long noncoding RNA genes LINC0108

  16. 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...

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

    Institute of Scientific and Technical Information of China (English)

    2015-01-01

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

  18. Dentin dysplasia type I : Five cases within one family

    NARCIS (Netherlands)

    Kalk, WWI; Batenburg, RHK; Vissink, A

    1998-01-01

    Five cases of dentin dysplasia type I within one family are described. Clinically and radiologically, such patients are characterized by a delayed eruption pattern, opacity of the incisional margins, hypermobility of the teeth, short and defective roots, and obliterated pulp chambers. A conservative

  19. Use of Zoledronic Acid in Paediatric Craniofacial Fibrous Dysplasia

    Directory of Open Access Journals (Sweden)

    Chiara Di Pede

    2016-01-01

    Full Text Available We describe a case of a paediatric patient affected by mandibular fibrous dysplasia (FD with severe and chronic pain who was successfully treated with zoledronic acid (ZOL: a third-generation bisphosphonate. Further research is needed to assess its safety and efficacy as a treatment option for FD in the paediatric population.

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

    Science.gov (United States)

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

    1997-07-11

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

  1. Tracheal dysplasia precedes bronchial dysplasia in mouse model of N-nitroso trischloroethylurea induced squamous cell lung cancer.

    Directory of Open Access Journals (Sweden)

    Moumita Ghosh

    Full Text Available Squamous cell lung cancer (SCC is the second leading cause of lung cancer death in the US and has a 5-year survival rate of only 16%. Histological changes in the bronchial epithelium termed dysplasia are precursors to invasive SCC. However, the cellular mechanisms that cause dysplasia are unknown. To fill this knowledge gap, we used topical application of N-nitroso-tris chloroethylurea (NTCU for 32 weeks to induce squamous dysplasia and SCC in mice. At 32 weeks the predominant cell type in the dysplastic airways was Keratin (K 5 and K14 expressing basal cells. Notably, basal cells are extremely rare in the normal mouse bronchial epithelium but are abundant in the trachea. We therefore evaluated time-dependent changes in tracheal and bronchial histopathology after NTCU exposure (4, 8, 12, 16, 25 and 32 weeks. We show that tracheal dysplasia occurs significantly earlier than that of the bronchial epithelium (12 weeks vs. 25 weeks. This was associated with increased numbers of K5+/K14+ tracheal basal cells and a complete loss of secretory (Club cell secretory protein expressing CCSP+ and ciliated cells. TUNEL staining of NTCU treated tissues confirmed that the loss of CCSP+ and ciliated cells was not due to apoptosis. However, mitotic index (measured by bromodeoxyuridine incorporation showed that NTCU treatment increased proliferation of K5+ basal cells in the trachea, and altered bronchial mitotic population from CCSP+ to K5+ basal cells. Thus, we demonstrate that NTCU-induced lung epithelial dysplasia starts in the tracheal epithelium, and is followed by basal cell metaplasia of the bronchial epithelium. This analysis extends our knowledge of the NTCU-SCC model by defining the early changes in epithelial cell phenotypes in distinct airway locations, and this may assist in identifying new targets for future chemoprevention studies.

  2. Gastric intestinal metaplasia is associated with gastric dysplasia but is inversely correlated with esophageal dysplasia

    Science.gov (United States)

    Gomez, Justin M; Patrie, James T; Bleibel, Wissam; Frye, Jeanetta W; Sauer, Bryan G; Shami, Vanessa M; Stelow, Edward B; Moskaluk, Christopher A; Wang, Andrew Y

    2017-01-01

    AIM To determine which clinical factors might be associated with gastric intestinal metaplasia (IM) in a North American population. METHODS Pathology and endoscopy databases at an academic medical center were reviewed to identify patients with and without gastric IM on biopsies for a retrospective cohort study. Patient demographics, insurance status, and other clinical factors were reviewed. RESULTS Four hundred and sixty-eight patients with gastric IM (mean age: 61.0 years ± 14.4 years, 55.5% female) and 171 without gastric IM (mean age: 48.8 years ± 20.8 years, 55.0% female) were compared. The endoscopic appearance of atrophic gastritis correlated with finding gastric IM on histopathology (OR = 2.05, P = 0.051). Gastric IM was associated with histologic findings of chronic gastritis (OR = 2.56, P gastritis are more likely to have gastric IM and should have screening gastric biopsies during esophagogastroduodenoscopy (EGD). Patients with gastric IM are at increased risk for having gastric dysplasia and cancer, and surveillance EGD with gastric biopsies in these patients might be reasonable. PMID:28250898

  3. 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.

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

    Science.gov (United States)

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

    2009-01-01

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

  5. Antitumor and antiproliferative effects of a fucan extracted from ascophyllum nodosum against a non-small-cell bronchopulmonary carcinoma line.

    Science.gov (United States)

    Riou, D; Colliec-Jouault, S; Pinczon du Sel, D; Bosch, S; Siavoshian, S; Le Bert, V; Tomasoni, C; Sinquin, C; Durand, P; Roussakis, C

    1996-01-01

    Fucans, sulfated polysaccharides extracted from brown seaweeds, have been shown to be endowed with inhibitory effects cell growth in various experimental models. We studied both the antiproliferative and antitumor properties of a fucoidan extract (HF) obtained from the brown seaweed Ascophyllum nodosum on a cell line derived from a non-small-cell human bronchopulmonary carcinoma (NSCLC-N6), this type of carcinoma is particularly chemo-resistant. HF exerts in vitro a reversible antiproliferative activity with a block observed in the G1 phase the cell cycle. Studies performed with the NSCLC-bearing nude mice show antitumor activity at subtoxic doses. These preliminary results indicate that HF exhibits inhibitory effect both in vitro and in vivo and is very potent antitumor agent in cancer therapy.

  6. Fibrous dysplasia as a rare cause of nasolacrimal duct obstruction

    Directory of Open Access Journals (Sweden)

    Bahtiyar Polat

    2015-09-01

    Full Text Available Fibrous dysplasia of the paranasal sinuses is mostly asymptomatic, but sometimes may cause signs and symptoms de- pending on its location. We report two cases of maxillary fibrous dysplasia obstructing the lacrimal drainage system as a reason of chronic dacryocystitis, and reviewed the related literature. The first case underwent an endonasal endoscopic approach combined with external dacryocystorhinostomy. He had a patent lacrimal system at one-year follow-up. The le- sion was completely removed via an endonasal endoscopic approach in the second case, wherein the patient was asymp- tomatic of the six-month follow-up period. [Arch Clin Exp Surg 2015; 4(3.000: 172-175

  7. Cleidocranial dysplasia: clinico-radiological illustration of a rare case.

    Science.gov (United States)

    Mohan, Ravi Prakash S; Suma, Gundareddy N; Vashishth, Shirin; Goel, Sumit

    2010-03-01

    Cleidocranial dysplasia is an autosomal dominant condition caused by mutation of RUNX2, characterized by generalized dysplasia of the bones and teeth. Affected individuals have short stature, atypical facial features, and skeletal anomalies affecting mainly the skull and clavicle. The dental manifestations are mainly delayed exfoliation of the primary teeth and delayed eruption of the permanent teeth, with multiple impacted supernumeraries, and absence of cellular cementum. The frequency of this disorder is 1 per million individuals. Here we report a rare case of CCD in a 9-year-old male patient having most of the characteristic features of this syndrome. Interestingly, disorganized dentinal tubules were found in the roots of an extracted deciduous first molar, which seems to be a unique feature not reported previously.

  8. Frontonasal dysplasia: a family presenting autosomal dominant inheritance pattern.

    Science.gov (United States)

    Koçak, H; Ceylaner, G

    2009-01-01

    Frontonasal dysplasia (FND, also called frontonasal dysostosis or median cleft face syndrome) includes a spectrum of abnormalities affecting the eyes, forehead and nose, and resulting from midfacial dysraphia. The clinical picture is highly variable, but major findings in FND include ocular hypertelorism, a broad nasal root, median cleft affecting nose or both the nose and upper lip, and widow's peak. It is usually a sporadic disorder, although a few familial cases have been reported. We report here a three-generation family with multiple affected members with frontonasal dysplasia. This observation suggests autosomal dominant inheritance. Furthermore, some of the features e.g. over-riding toes, nail changes, vertical crease on plantar region of the feet in the index patient were not reported up to now.

  9. Neonatal orchitis mimicking cystic dysplasia of the testis.

    Science.gov (United States)

    Martin, George L; Cassell, Ian L S; deMello, Daphne E; Ritchey, Michael L

    2010-12-01

    Neonatal orchitis is an extremely rare disease, usually related to a congenital genitourinary anomaly. We present a 36 weeks' gestation infant who presented at 3 days old with a firm and enlarged right testicle. Testicular US revealed a heterogeneous right testicle with numerous cystic spaces as well as decreased testicular blood flow. The clinical concerns included testicular tumor and cystic dysplasia of the testis because of concurrent renal dysplasia. The scrotal/testicular area was without tenderness or overlying erythema. Radical inguinal orchiectomy revealed diffuse gram-negative orchitis.This case represents an atypical presentation of orchitis. This entity should be added to the differential diagnoses of testicular mass in the neonate even in the absence of physical findings suggestive of infection.

  10. Squamous cell dysplasia and carcinoma of the conjunctiva

    DEFF Research Database (Denmark)

    Ramberg, Ingvild; Heegaard, Steffen; Prause, Jan Ulrik

    2015-01-01

    %) had epithelial dysplasia, 19 (13%) had carcinoma in situ, and 29 (20%) had squamous cell carcinoma. A significantly higher proportion of men were found. The median age at diagnosis was 65 years. The risk of recurrence was 10.0% [95% confidence interval (CI): 5.0–15.0] after 1 year and 17.2% (95% CI......Purpose To investigate the epidemiology of squamous cell dysplasia and carcinoma of the conjunctiva in Denmark. Methods Review of the histopathological case reports at the Eye Pathology Institute (EPI), University of Copenhagen, and the National Danish Pathology Bank from 1980 to 2011. Information......: 10.8–23.7) after 5 years. The lesions were most often localized to the corneal limbus. In our records, one patient had a lymph node metastasis and the disease necessitated enucleation in two patients. No patients had died from squamous cell carcinoma of the conjunctiva. Conclusion Overall, our data...

  11. Streeter Dysplasia, from Pelvic to Digits: A Case Report

    Directory of Open Access Journals (Sweden)

    Komang Agung Irianto

    2016-11-01

    Full Text Available Background: Streeter dysplasia is a term to describe fetal congenital syndrome which mainly characterized by constriction band on appendages, prenatal amputations of extremities, and acrosyndactyly. This syndrome has wide range of clinical manifestation between patients, as reflected by many other terms to describe this syndrome. Case: The author reported five cases of Streeter dysplasia with constriction band on different locations of the body, with a patient having a constriction band around pelvic and other multiple anomalies, patient with constriction around leg and caused acute limb ischemic, and several cases of acrosyndactyly around hand and foot. Result and Conclusion: Constriction band release surgery, as well as correction surgery for other abnormality was performed, either by direct closure or Z-plasty with satisfactory result in functional and aesthetic.

  12. Automated measurement of diagnostic angles for hip dysplasia

    DEFF Research Database (Denmark)

    de Raedt, Sepp; Mechlenburg, I.; Stilling, M.

    2013-01-01

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

  13. Discriminating dysplasia: Optical tomographic texture analysis of colorectal polyps.

    Science.gov (United States)

    Li, Wenqi; Coats, Maria; Zhang, Jianguo; McKenna, Stephen J

    2015-12-01

    Optical projection tomography enables 3-D imaging of colorectal polyps at resolutions of 5-10 µm. This paper investigates the ability of image analysis based on 3-D texture features to discriminate diagnostic levels of dysplastic change from such images, specifically, low-grade dysplasia, high-grade dysplasia and invasive cancer. We build a patch-based recognition system and evaluate both multi-class classification and ordinal regression formulations on a 90 polyp dataset. 3-D texture representations computed with a hand-crafted feature extractor, random projection, and unsupervised image filter learning are compared using a bag-of-words framework. We measure performance in terms of error rates, F-measures, and ROC surfaces. Results demonstrate that randomly projected features are effective. Discrimination was improved by carefully manipulating various important aspects of the system, including class balancing, output calibration and approximation of non-linear kernels.

  14. AN UNUSUAL CASE OF ASYMPTOMATIC APLASTIC RENAL DYSPLASIA

    Institute of Scientific and Technical Information of China (English)

    LouisTsun-CheungChow; Wing-HingChow

    1995-01-01

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

  15. [Angel-shaped phalango-epiphyseal dysplasia: case report].

    Science.gov (United States)

    Conci, René; Oller, Alicia; Moya, Martín; Echegaray, Adriana; Frush, Donald

    2017-02-01

    We describe a rare and sporadic condition, characterized by swan neck deformity in hands, hip osteoarthritis in adulthood and malformations of the middle phalanges with an angel shape. The patient is a 4 year old boy who suffered hand trauma and on x-ray examination he was diagnosed with angel-shaped phalango-epiphyseal dysplasia. Based on this diagnosis, his mother, who suffered from constant pain in her hips and lower limbs, was diagnosed with this syndrome as well.

  16. 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.

  17. 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...... in the calvarial midline and missing nasal bones, are easily recognizable using 3D ultrasound as early as in week 15. Copyright (C) 2009 S. Karger AG, Basel....

  18. 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.

  19. Keratoconus as a manifestation of connective tissue dysplasia

    Directory of Open Access Journals (Sweden)

    M. M. Bikbov

    2015-01-01

    Full Text Available Common association of keratoconus and connective tissue dysplasia indicates that these disorders possibly share etiology and pathogenesis. Connective tissue dysplasia is characterized by the decrease in certain types of collagen, abnormalities of their proportion, alteration of collagen synthesis and assembly, immature collagen synthesis, abnormalities of collagen fiber structure, defects of type III collagen synthesis, peptidase deficiency, and increase in pro-collagen as compared with collagen. The latter accounts for immature collagen level increase in tissues and organs and systemic congenital laxity of connective tissue. This results in the abnormalities of biomechanical properties of organs and tissues which are composed of collagen fibers. Corneal stroma consists of collagen fibers and glycoprotein matrix. Hence, quantitative and qualitative changes in connective tissue dysplasia affect corneal biomechanics. Abnormalities of collagen fibril orientation result in their reorganization thus influencing corneal shape and transparency. In keratoconus, decreased total collagen and type I, type III, and type IV collagen, increased type XV collagen, and abnormalities of their proportion in corneal stroma as well as allele differences in COL4A3 and CoL4A4 genes encoding 2 of 6 α-chains of type IV collagen were demonstrated. Nucleotide polymorphisms in LOX genes encoding lysyl oxidase and lysyl oxidase-like enzymes which are responsible for cross-linking of collagen polypeptide chains (and, therefore, mechanical strength of fibrils were revealed as well. LOX gene deficiency that accounts for systemic biomechanical abnormalities was also recognized in certain connective tissue dysplasia. Further studies will provide early diagnosis and pathogenically target therapy of genetic disorders associated with tissue abnormalities 

  20. Evaluation of the Reliability and Validity of the Crawford Classification of Congenital Tibial Dysplasia

    Science.gov (United States)

    2007-12-01

    scoliosis , sphenoid wing dysplasia, long bone dysplasia, bone cysts, and shorter than expected stature for familial background.4,5 Probably the most...abnormalities in NF1 in Salt Lake City, UT, to discuss the natural history of long bone dysplasia and dysplastic scoliosis in NF1. Since that time...history, etiology, classification, and epidemiologic data. J Pediatr OrthopB 2000;9:11–15. 10. Crawford AH, Bagamery N. Osseous manifestations of

  1. Generalized dysplasia epiphysealis hemimelica with contralateral sacro-iliac joint involvement

    Energy Technology Data Exchange (ETDEWEB)

    Karam, Adib R.; Birjawi, Ghina A.; Khoury, Nabil J. [American University of Beirut Medical Center, Department of Diagnostic Radiology, Beirut (Lebanon); Saghieh, Said [American University of Beirut Medical Center, Department of Orthopedic Surgery, Beirut (Lebanon); Tawil, Ayman [American University of Beirut Medical Center, Department of Pathology, Beirut (Lebanon)

    2008-12-15

    Dysplasia epiphysealis hemimelica (or Trevor's disease) is a rare developmental bone dysplasia characterized by benign osteocartilaginous overgrowth involving one or multiple epiphyses, usually of a single lower extremity. It is classified as localized form, classical form (most common), and generalized form. In this report we describe a case of generalized form of dysplasia epiphysealis hemimelica with involvement of the contralateral sacroiliac joint, which is an extremely rare presentation. (orig.)

  2. 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.)

  3. The Diagnostic importance of clinical and radiologic features of the Multiple Cemento-osseous dysplasia

    Energy Technology Data Exchange (ETDEWEB)

    Han, M. R.; Kim, Y. H.; Kang, B. C. [College of Dentistry, Chonam National University, Kwangju (Korea, Republic of)

    1998-02-15

    This case was diagnosed as multiple cementoosseous dysplasia on the basis of clinical and radiological features but was diagnosed as ossifying fibroma on the basis of histopathological feature. The histopathologic features of the multiple cementoosseous dysplasia and cementoossifying fibroma have common features of cementum, fibrous network and bone. Multiple cementoosseous dysplasia is reactive lesion and shows restricted lesion size, occurred on anterior and posterior tooth of the mandible and needs no treatment except periodic follow up. But Cementoossifying fibroma is the true neoplasm and grows continuously and needs surgical removal. The final diagnosis of the multiple cementoosseous dysplasia requires good correlation of the clinical histopathological, and radiological features.

  4. Odonto-onycho-dermal dysplasia in a patient homozygous for a WNT10A nonsens mutation and mild manifestations of ectodermal dysplasia in carriers of the mutation

    DEFF Research Database (Denmark)

    Bruun Krøigård, Anne; Clemmensen, Ole; Gjørup, Hans

    2016-01-01

    BACKGROUND: Odonto-onycho-dermal dysplasia (OODD) is a rare form of ectodermal dysplasia characterized by severe oligodontia, onychodysplasia, palmoplantar hyperkeratosis, dry skin, hypotrichosis, and hyperhidrosis of the palms and soles. The ectodermal dysplasias resulting from biallelic mutations...... was homozygous for a previously reported pathogenic mutation in the WNT10A gene, c.321C > A, p.Cys107*. The skin and nail abnormalities were for many years interpreted as psoriasis and treated accordingly. A thorough clinical examination revealed hypotrichosis and hyperhidrosis of the soles and dental...

  5. 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.

  6. 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.)

  7. Diagnostic methods and treatment options for focal cortical dysplasia.

    Science.gov (United States)

    Guerrini, Renzo; Duchowny, Michael; Jayakar, Prasanna; Krsek, Pavel; Kahane, Philippe; Tassi, Laura; Melani, Federico; Polster, Tilman; Andre, Véronique M; Cepeda, Carlos; Krueger, Darcy A; Cross, J Helen; Spreafico, Roberto; Cosottini, Mirco; Gotman, Jean; Chassoux, Francine; Ryvlin, Philippe; Bartolomei, Fabrice; Bernasconi, Andrea; Stefan, Hermann; Miller, Ian; Devaux, Bertrand; Najm, Imad; Giordano, Flavio; Vonck, Kristl; Barba, Carmen; Blumcke, Ingmar

    2015-11-01

    Our inability to adequately treat many patients with refractory epilepsy caused by focal cortical dysplasia (FCD), surgical inaccessibility and failures are significant clinical drawbacks. The targeting of physiologic features of epileptogenesis in FCD and colocalizing functionality has enhanced completeness of surgical resection, the main determinant of outcome. Electroencephalography (EEG)-functional magnetic resonance imaging (fMRI) and magnetoencephalography are helpful in guiding electrode implantation and surgical treatment, and high-frequency oscillations help defining the extent of the epileptogenic dysplasia. Ultra high-field MRI has a role in understanding the laminar organization of the cortex, and fluorodeoxyglucose-positron emission tomography (FDG-PET) is highly sensitive for detecting FCD in MRI-negative cases. Multimodal imaging is clinically valuable, either by improving the rate of postoperative seizure freedom or by reducing postoperative deficits. However, there is no level 1 evidence that it improves outcomes. Proof for a specific effect of antiepileptic drugs (AEDs) in FCD is lacking. Pathogenic mutations recently described in mammalian target of rapamycin (mTOR) genes in FCD have yielded important insights into novel treatment options with mTOR inhibitors, which might represent an example of personalized treatment of epilepsy based on the known mechanisms of disease. The ketogenic diet (KD) has been demonstrated to be particularly effective in children with epilepsy caused by structural abnormalities, especially FCD. It attenuates epigenetic chromatin modifications, a master regulator for gene expression and functional adaptation of the cell, thereby modifying disease progression. This could imply lasting benefit of dietary manipulation. Neurostimulation techniques have produced variable clinical outcomes in FCD. In widespread dysplasias, vagus nerve stimulation (VNS) has achieved responder rates >50%; however, the efficacy of noninvasive

  8. Biomechanical investigation of ambulatory training in patients with acetabular dysplasia.

    Science.gov (United States)

    Kanai, Akira; Kiyama, Takahiro; Genda, Eiichi; Suzuki, Yasuo

    2008-07-01

    The purpose of this study was to investigate the effectiveness and safety of ambulatory training in patients with acetabular dysplasia. To achieve this, we studied the hip joint moment in subjects walking with laterally and horizontally elevated arms and changing speeds as a form of training to strengthen hip joint abductor muscles. We studied eight women with pre- or early stage hip disease (center-edge angle of Wieberg 18.5 degrees to -3.0 degrees ) and six healthy women. In exercise task 1 the subjects walked at a rate of 90 steps/min, with abduction of 90 degrees in the shoulder joint ipsilateral or contralateral to the affected hip joint, and either no load or a 1 kg weight in either hand. In exercise task 2, walking speed was changed in three stages from 60 steps/min (s-gait), 90 steps/min (n-gait), and 120 steps/min (f-gait), with both hands swinging freely. Using results from a three-dimensional motion analysis system, the hip joint moments were calculated. In both the healthy and the acetabular dysplasia groups, the abduction moment of the hip joint decreased significantly with ipsilateral elevation and increased significantly with contralateral elevation. There was no significant change in hip flexion moment in either group. The hip extension moment decreased significantly with contralateral elevation, but no significant changes were seen in ipsilateral elevation. In the walking rate variation, the extension hip moment in fast gait was higher than in slow gait. It was concluded that ambulatory training with contralateral horizontal arm elevation may be an effective way of increasing hip joint abductor muscle strength. Ipsilateral arm elevation decreases gluteus medius muscle tension and is an effective way of ambulatory training for people with compensated trendelenburg gait. Variable speed walking is an effective exercise method that can strengthen extensor muscles. Therefore, these ambulatory training methods are useful for acetabular dysplasia patients.

  9. A BOY WITH POLAND ANOMALY AND FACIO-AURICULO-VERTEBRAL DYSPLASIA

    NARCIS (Netherlands)

    COBBEN, JM; VANESSEN, AJ; MCPARLAND, PC; POLMAN, HA; TENKATE, LP

    1992-01-01

    Poland anomaly and facio-auriculo-vertebral dysplasia are considered to be separate entities. We describe a 3-year-old boy with features of both Poland anomaly and facio-auriculo-vertebral dysplasia. This is the first report, to our knowledge, of this combination of birth defects. Possible pathogene

  10. Terminal osseous dysplasia is caused by a single recurrent mutation in the FLNA gene.

    NARCIS (Netherlands)

    Sun, Y.; Almomani, R.; Aten, E.; Celli, J.; Heijden, J. van der; Venselaar, H.; Robertson, S.P.; Baroncini, A.; Franco, B.; Basel-Vanagaite, L.; Horii, E.; Drut, R.; Ariyurek, Y.; Dunnen, J.T. den; Breuning, M.H.

    2010-01-01

    Terminal osseous dysplasia (TOD) is an X-linked dominant male-lethal disease characterized by skeletal dysplasia of the limbs, pigmentary defects of the skin, and recurrent digital fibroma with onset in female infancy. After performing X-exome capture and sequencing, we identified a mutation at the

  11. Restrictive lung disease and cor pulmonale secondary to polyostotic fibrous dysplasia.

    Science.gov (United States)

    Narayan, Rajeev L; Maldjian, Pierre D

    2009-01-09

    Polyostotic fibrous dysplasia is a rare benign pathological condition of bone in which proliferation of fibrous and osteoid elements results in expansile deformities of the skeleton. We present a case of polyostotic fibrous dysplasia in a young man in whom the severe deformities of the chest wall and spine produced restrictive lung disease, cor pulmonale and respiratory failure.

  12. Cone-beam computed tomography: An inevitable investigation in cleidocranial dysplasia

    Directory of Open Access Journals (Sweden)

    Nandita S Gupta

    2015-01-01

    Full Text Available Cleidocranial dysplasia is a heritable skeletal dysplasia and one of the most common features of this syndrome is multiple impacted supernumerary teeth. Cone-beam computed tomography, the most recent advancement in maxillofacial imaging, provides the clinician to view the morphology of the skull and the dentition in all three dimensions and help in treatment planning for the patient.

  13. 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

  14. 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

  15. Pelvic orientation and assessment of hip dysplasia in adults

    DEFF Research Database (Denmark)

    Jacobsen, S.; Holm, S.S.; Lund, B.

    2004-01-01

    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...... dysplasia in the longitudinal survey cohort of the Copenhagen City Heart Study (CCHS; Osteoarthrosis Sub-study). 1) Cadaver pelvises and proximal femurs from a male and a female donor were mounted anatomically in holding devices allowing independent inclination/reclination and rotation. An AP pelvic...

  16. Craniofacial surgery and optic canal decompression in adult fibrous dysplasia

    Directory of Open Access Journals (Sweden)

    Mahapatra A

    2003-01-01

    Full Text Available A 29-year-old female had a 3-year history of bony swelling over the right frontal area. For 3 months she noticed proptosis of her right eye. Investigations revealed fibrous dysplasia involving the right half of the frontal bone and the right greater and lesser wings of the sphenoid bone. Visual evoked potentials (VEP showed delayed latencies on the involved side. A craniofacial surgery with optic canal decompression was performed. Follow-up after 2 years revealed normalization of VEP.

  17. [DNA in koilocytotic dysplasia of the cervix uteri, cytophotometric studies].

    Science.gov (United States)

    Christov, K; Karageosov, I; Makaveeva, V; Kristeva, K

    1987-01-01

    In koilocytotic dysplasia of the uterine cervix the DNA content in squamous cells was quantitated by cytophotometry in histological preparations stained according to Feulgen. Three patterns of DNA distribution in the squamous cells were found. In type one (21.4%) the cells had DNA content in the diploid and paradiploid zone of the histogram. In type two (35.7%) cells with triploid and tetraploid DNA values were found, but with a conspicuous modal class of cells. In type three no modal class cells were found (42.9%). The quantitative DNA changes in squamous cells show that some of the HPV induced alterations may be regarded as precancerous.

  18. Arrhythmogenic right ventricular dysplasia masquerading as an abdominal episode.

    Science.gov (United States)

    Kaya, Mehmet Gungor; Yalcin, Ridvan; Ozin, Bulent; Altunkan, Sekip; Cengel, Atiye

    2007-01-01

    A 19-year-old woman presented with abdominal pain. Aside from epigastric tenderness, the patient's physical examination was unremarkable. She developed ventricular tachycardia with left bundle branch block morphology shortly after admission. Echocardiography revealed a thin, enlarged, and hypokinetic right ventricle. Electron beam computed tomography demonstrated hypodense areas in the right ventricular free wall suggestive of fatty infiltration, which suggested arrhythmogenic right ventricular dysplasia. The diagnosis was confirmed with the use of cardiac magnetic resonance imaging. The patient received an implantable cardioverter-defibrillator. This case illustrates a noncardiac presentation of a rare yet treatable cardiac condition.

  19. Fibrous dysplasia of maxilla: Report of two cases

    Directory of Open Access Journals (Sweden)

    Nisha Dua

    2015-01-01

    Full Text Available Fibrous dysplasia (FD is an idiopathic skeletal disorder in which the trabecular bone is replaced and distorted by poorly organized, structurally unsound fibro-osseous tissue. The lesion is classified into two forms: Monostotic (75-80% and polyostotic. A distinct form of Polyostotic FD, known as McCune-Albright Syndrome, is accompanied by cutaneous pigmentation and sexual precocity, and this occurs almost exclusively in women. Typical radiographic appearance shows an expanded osseous lesion having poorly defined margins covered by a thin "eggshell" cortex and lacking periosteal new bone formation. Here, we are presenting two case reports of FD involving the maxilla.

  20. Bilateral renal infarction: an uncommon presentation of fibromuscular dysplasia.

    Science.gov (United States)

    Ayach, Taha; Kazory, Amir

    2013-12-01

    While fibromuscular dysplasia (FMD) is an established cause of secondary hypertension, its association with renal infarction is less well recognized. We report a middle-aged man who presented with complaints of loin pain and severe hypertension. Computed tomography angiography of the abdomen revealed bilateral renal infarction with multiple short-segment arterial dissection compatible with FMD in the absence of systemic vasculitis and other risk factors for thromboembolic events. Bilateral renal infarction complicating FMD is extremely rare and has so far been reported only in a handful of cases. Physicians encountering cases of otherwise unexplained renal infarction/ischemia need to be aware of this complication.

  1. Arrhythmogenic right ventricular cardiomyopathy/dysplasia: an updated imaging approach.

    Science.gov (United States)

    Zimmerman, Stefan L

    2015-02-01

    Arrhythmogenic right ventricular cardiomyopathy/dysplasia (ARVC/D) is a rare inherited cardiomyopathy characterized by fibrofatty replacement of the right ventricular myocardium and risk of sudden death from ventricular tachyarrhythmias. Cardiac magnetic resonance (MR) imaging plays an important role in the diagnostic evaluation of patients and family members suspected of having ARVC/D. This article discusses the epidemiology and pathophysiology of ARVC/D, reviews typical MR imaging findings and diagnostic criteria, and summarizes potential pitfalls in the MR imaging evaluation of patients suspected of having ARVC/D.

  2. Congenital Osteofibrous dysplasia, Involving the tibia of a neonate

    Energy Technology Data Exchange (ETDEWEB)

    Kim, Sang Yoon; Lee, Sang Hoon [Dept. of Radiology and Research Institute of Radiology, University of Ulsan College of Medicine, Asan Medical Center, Seoul (Korea, Republic of)

    2015-11-15

    Osteofibrous dysplasia (OFD) is a benign fibro-osseous lesion found in long bones, and congenital OFD in neonates is very rare. The diagnosis of OFD in neonates is difficult, and it is sometimes misidentified as any of a number of other congenital tumors or tumor-like lesions, in which case biopsies are often necessary. After a histological confirmation of OFD, non-surgical or delayed surgical treatment is generally recommended. We present image findings from the radiographs and magnetic resonance images in the case of a 7-day-old female infant with pathologically confirmed congenital OFD.

  3. Fibrous dysplasia of the maxilla: diagnostic reliability of the study image. Literature review.

    Science.gov (United States)

    Fusconi, Massimo; Conte, Michela; Pagliarella, Martina; De Vincentiis, Chiara; De Virgilio, Armando; Benincasa, Anna Teresa; Alessi, Simone; Gallo, Andrea

    2013-12-01

    Objective Fibrous dysplasia (FD) is a benign bone disorder in facial bones. This study evaluates the possibility of diagnosing fibrous dysplasia on imaging alone, without biopsy of the lesion, which is often burdensome for the patient. Materials and Methods The authors bring their experience of four cases of bone lesions of the maxillofacial region and present a review of published studies. The imaging techniques evaluated are computed tomography (CT) and magnetic resonance imaging (MRI) with and without contrast. Results The literature review demonstrates that it is impossible to make diagnosis of fibrous dysplasia exclusively by imaging. Radiographic images often show a ground-glass appearance, which is characteristic but not pathognomonic of fibrous dysplasia. Conclusion Although CT and MRI images may in many cases suggest a diagnosis of fibrous dysplasia, histological examination or follow-up imaging should follow.

  4. Acute toxicity of polyethylene glycol p-isooctylphenol ether in Syrian hamsters exposed by inhalation or bronchopulmonary lavage

    Energy Technology Data Exchange (ETDEWEB)

    Damon, E.G. (Inhalation Toxicology Research Inst., Albuquerque, NM); Halliwell, W.H.; Henderson, T.R.; Mokler, B.V.; Jones, R.K.

    1982-01-01

    Dose-response studies were conducted with Syrian hamsters exposed to polyethylene glycol p-isooctylphenyl ether (Triton X-100) via inhalation or bronchopulmonary lavage. Syrian hamsters were exposed to an aerosol of Triton X-100 with a mass median aerodynamic diameter of 1.5 ..mu..m and a concentration of 3.0 mg/liter. Estimated initial lung burdens of Triton X-100 ranged from 800 to 3100 ..mu..g. Hamsters were lavaged with concentrations of Triton X-100 ranging from 0.01 to 0.10% in isotonic saline resulting in initial lung burdens of Triton X-100 that ranged from 300 to 3200 ..mu..g. The LD50/7 values were 1700 ..mu..g (1300 to 2100 ..mu..g, 95% confidence limits) for the inhalation study and 2100 (1900 to 2700) ..mu..g for the lavage study. The difference between the LD50/7 values for the two methods of exposure was not significant. However, histopathological examination revealed differences in the nature and distribution of pathologic changes observed in animals exposed by the two routes of administration. Animals exposed by inhalation died as a result of ulcerative laryngitis and laryngeal edema with only minimal pulmonary pathologic alterations. Animals exposed by lavage, where the larynx was not exposed to Triton X-100, died from pulmonary edema and acute exudative pneumonia. These results demonstrate the need for careful selection of exposure methods to meet the specific objectives of a toxicology study.

  5. Differential genetic regulation of canine hip dysplasia and osteoarthritis.

    Directory of Open Access Journals (Sweden)

    Zhengkui Zhou

    Full Text Available BACKGROUND: Canine hip dysplasia (HD is a common polygenic trait characterized by hip malformation that results in osteoarthritis (OA. The condition in dogs is very similar to developmental dysplasia of the human hip which also leads to OA. METHODOLOGY/PRINCIPAL FINDINGS: A total of 721 dogs, including both an association and linkage population, were genotyped. The association population included 8 pure breeds (Labrador retriever, Greyhounds, German Shepherd, Newfoundland, Golden retriever, Rottweiler, Border Collie and Bernese Mountain Dog. The linkage population included Labrador retrievers, Greyhounds, and their crosses. Of these, 366 dogs were genotyped at ∼22,000 single nucleotide polymorphism (SNP loci and a targeted screen across 8 chromosomes with ∼3,300 SNPs was performed on 551 dogs (196 dogs were common to both sets. A mixed linear model approach was used to perform an association study on this combined association and linkage population. The study identified 4 susceptibility SNPs associated with HD and 2 SNPs associated with hip OA. CONCLUSION/SIGNIFICANCE: The identified SNPs included those near known genes (PTPRD, PARD3B, and COL15A1 reported to be associated with, or expressed in, OA in humans. This suggested that the canine model could provide a unique opportunity to identify genes underlying natural HD and hip OA, which are common and debilitating conditions in both dogs and humans.

  6. Grading of oral epithelial dysplasia: Points to ponder

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    K M Geetha

    2015-01-01

    Full Text Available Background: Over the years many grading systems have been put forward in an attempt to obtain objectivity in grading oral epithelial dysplasia (OED. However, despite these efforts variability remains unresolved. Our study aimed to evaluate the intra- and inter-observer variability in grading OED, using World Health Organization (WHO, Smith and Pindborg and Ljubljana grading systems and discuss the possible reasons for this variability if any. Materials and Methods: Three oral pathologists graded 50 slides of OED independently twice at a time interval of 3 months. Variability was evaluated by multivariate kappa analysis. Results: Intra-observer reproducibility ranged from moderate to good in WHO system, fair to moderate in Smith and Pindborg system and moderate to poor in Ljubljana grading system. Inter-observer agreement was found to be fair in WHO, poor in Smith and Pindborg system and poor to fair in Ljubljana grading systems. Intra-observer reproducibility of the dysplastic features in WHO system was good for all except the loss of polarity and basilar hyperplasia for first observer and enlarged nucleoli for the third observer. Inter-observer agreement was good for increased number of mitosis and nuclear hyperchromatism. Intra-observer reproducibility and inter-observer agreement were found to be best in the WHO grading system though variability within this system still existed. Conclusion: There is a need for an International body of pathologists to come to a consensus on a more definable grading system to resolve the issue of variability in grading dysplasia.

  7. Monostotic fibrous dysplasia of the metacarpal: a case report

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    Kátia Tôrres Batista

    Full Text Available ABSTRACT Fibrous dysplasia is a bone disease characterized by abnormal differentiation of fibrous tissue in the bones; it is often asymptomatic. It may affect one bone (monostotic or several bones (polyostotic. The monostotic form primarily affects the ribs, but hardly ever affects the hand. It is important to make the differential diagnosis with malignant bone tumors. This article describes the treatment and outcome of a rare case of a patient admitted with a history of tumor growth in the right hand, diagnosed as fibrous dysplasia of the right second metacarpal. Male patient, 14 years of age, admitted to the Sarah Hospital with lesion on the dorsum of the right hand without pain complaints, previous history of trauma, nor local signs of inflammation. Physical examination revealed swelling on the dorsum of the second metacarpal, painless, with unaltered mobility and sensitivity. Radiography, computed tomography, and magnetic resonance imaging indicated the involvement of the entire length of the second metacarpal: only the distal epiphysis was preserved, with areas of bone lysis. After biopsy confirmation, the patient underwent surgery, using a long cortical graft for reconstructing the metacarpal. During the follow-up period of five years there were no signs of recurrence, and proper digital growth and functionality of the operated hand were observed.

  8. Central retinal artery occlusion in association with fibromuscular dysplasia

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    Altun A

    2013-11-01

    Full Text Available Ahmet Altun,1 Gulengul Altun,2 Osman Okan Olcaysu,3 Sevda Aydin Kurna,1 Suat Fazil Aki11Clinic of Ophthalmology, Fatih Sultan Mehmet Education and Research Hospital, Istanbul, Turkey; 2Department of Pediatrics, Yeditepe University, Istanbul, Turkey; 3Clinic of Ophthalmology, Erzurum Region Education and Research Hospital, Erzurum, TurkeyAbstract: A 14 year-old female, whose chief complaint was severe vision loss in the right eye for 2 days, presented to the Clinic of Ophthalmology of Fatih Sultan Mehmet Education and Research Hospital. The patient had been attending follow-up visits for 4 years, following a diagnosis of fibromuscular dysplasia by the Clinic of Pediatrics. The patient underwent a complete ophthalmologic, angiographic, hematologic, and systemic evaluation. Fundus fluorescein angiography was performed immediately, because of the cherry-red spot sign in the macula of the right eye. Fundus fluorescein angiography revealed evidence of marked stasis of the retinal arterial circulation in the right eye. Best corrected visual acuity was 20/400 in the right eye and 20/20 in the left eye.Keywords: retina, artery, occlusion, fibromuscular, dysplasia

  9. 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

    目的:分析不同程度早产儿支气管肺发育不良(BPD)的高危因素,指导该病的临床防治。方法收集2011年2月~2014年2月在我院新生儿科住院并确诊为 BPD 的128例早产儿的临床资料,按 BPD 的严重程度分为轻度、中度、重度三组,对各组的资料进行比较分析。结果轻度、中度、重度 BPD 组分别纳入患儿57例、45例、26例,各组患儿在性别、胎次、分娩方式、母患妊高征、产前应用激素、有否胎儿窘迫、出生复苏、肺表面活性物质应用、合并肺出血等方面的差异无统计学意义(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).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).With disease worsening,longer duration of oxygen uptake,transfusion of more concentrated red blood cells,positive rates of hemoculture and sputum cul-ture specimen,more patent ductus arteriosus complications and more invasiveness therapy (mechanical ventila-tion,tracheal intubation twice or more,and nasogastric intubation)occurred,group-paired comparison yiel-ded statistically significant differences (P <0.05). Conclusion Avoidance of premature delivery,low birth weight newborn is the basis of prevention BPD.The key interventions for reducing the severity of BPD are pre-vention and therapy of infection,shortening the time of mechanical ventilation and oxygen uptake.

  10. 重组促红细胞生成素防治支气管肺发育不良的临床研究%Treatment with recombinant erythropoietin for bronchopulmonary dysplasia

    Institute of Scientific and Technical Information of China (English)

    刘丽芳; 许茜; 蔡琳; 李晓东; 何中倩; 陈宏洁

    2014-01-01

    目的 探讨重组促红细胞生成素(rhEpo)防治支气管肺发育不良(BPD)的效果. 方法 选择胎龄<32周、需机械通气(包括常频及高频)治疗的患儿103例,随机分为促红细胞生成素组(51例)和常规治疗组(52例),比较两组在生后28 d BPD发生率、纠正胎龄36周时BPD严重程度、死亡率、住院时间、呼吸机治疗时间、氧疗时间和并发症的发生率. 结果 促红细胞生成素组和常规治疗组BPD发生率(11.8%和28.8%)、纠正胎龄36周时BPD严重程度、住院时间[(32.6± 11.2)d和(44.3±9.7)d]、输血量[(28.6±12.7) ml/kg和(39.6±10.6)ml/kg]和贫血发生率(35.3%和61.5%)比较,差异均有统计学意义. 结论 rhEpo治疗有BPD风险的早产儿可减少BPD的发生率及减轻BPD程度,减少氧疗时间,缩短住院时间,未增加早产儿视网膜病(ROP)的发生率.

  11. Osteosclerotic metaphyseal dysplasia: a skeletal dysplasia that may mimic lead poisoning in a child with hypotonia and seizures

    Energy Technology Data Exchange (ETDEWEB)

    Mennel, Emilie A. [University of Texas Southwestern Medical School, Dallas, Texas (United States); John, Susan D. [Department of Radiology, University of Texas-Houston Medical School, 6431 Fannin-MSB2.100, Houston, TX 77030 (United States)

    2003-01-01

    We report the case of a 23-month-old male with hypotonia, developmental delay, and complex seizures. Radiographs revealed profound sclerosis of the metaphyses and epiphyses of the long and short bones in the extremities, with a unique pattern of distribution. Sclerosis also involved the anterior ribs, iliac crests, talus, and calcaneus. The skull and vertebral bodies appeared unaffected. Blood lead levels were normal. We believe that this constellation of clinical and radiographic abnormalities closely resembles osteosclerotic metaphyseal dysplasia (OMD) due to an autosomal recessive defect. Characteristic skeletal findings were instrumental in determining the diagnosis. OMD is a very rare sclerosing bone disorder, first described in 1993. The syndrome is characterized clinically by developmental delay of a progressive nature, hypotonia, elevated alkaline phosphatase, and late-onset spastic paraplegia. We encountered a young child with these neurologic symptoms who displayed sclerotic metaphyseal changes on hand radiographs obtained to determine the bone age. Lead poisoning, a known cause of metaphyseal sclerosis, was initially suspected. Careful analysis of the metaphyseal bone changes helped to distinguish this bone dysplasia from lead poisoning and other causes of metaphyseal sclerosis. (orig.)

  12. Altered β-catenin expression in oral mucosal dysplasia: a comparative study

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    Brunno Santos de Freitas SILVA

    2015-10-01

    Full Text Available Objective The current study aimed to investigate the β-catenin expression in oral leukoplakia (OL with different degrees of epithelial dysplasia and normal oral mucosa.Material and Methods Formalin-fixed, paraffin-embedded tissue samples of 39 OL (mild dysplasia n=19, moderate dysplasia n=13, and severe dysplasia n=7, and 10 normal oral mucosa (control group were submitted to immunohistochemical reactions to anti-β-catenin primary antibody. A qualitative β-catenin analysis was performed based on the percentage of positive cells. The cellular location and the epithelial layer were also considered. The Chi-square test and the Fisher’s exact test were used to verify possible differences in the β-catenin expression among the OL groups. A p-value of <0.05 was considered statistically significant.Results Membranous expression of β-catenin in parabasal and basal layers was gradually lost in the higher degrees of epithelial dysplasia. In normal oral mucosa, β-catenin was detected only in the cytoplasmic membrane. However, a significant increase in cytoplasmic β-catenin could be observed between mild and moderate dysplasia (Fisher Exact test - p<0.001 and between mild and severe dysplasia (p<0.001.Conclusions The β-catenin cytoplasmic expression observed in this study may represent the initial stage of modifications in the E-cadherin-catenin complex, along with morphological cellular changes.

  13. DNA Ploidy and Liver Cell Dysplasia in Liver Biopsies from Patients with Liver Cirrhosis

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    Sayed S El-Sayed

    2004-01-01

    Full Text Available There is controversy among pathologists when assessing the presence or absence of liver cell dysplasia in liver biopsies taken from cirrhotic patients. The objective of the present study was to determine the DNA ploidy pattern of hepatocytes of patients with liver cirrhosis and its relationship to liver cell dysplasia. A total of 48 male patients diagnosed with liver cirrhosis based on clinical, laboratory and histopathological criteria were included in the study. A liver biopsy was taken from each patient; one part of the biopsy was subjected to histopathology, and the other to flow cytometry. The histopathological examination revealed liver cell dysplasia in 60% of patients with liver cirrhosis (62% of them had large cell dysplasia [LCD] and 38% had small cell dysplasia [SCD]. Abnormal DNA content (aneuploidy was found in 81.5% of positive liver cell dysplasia specimens and found only in 11.1% of negative liver cell dysplasia specimens, with a statistically significant difference (P0.05 in comparison with SCD. In conclusion, SCD (similar to LCD is also associated with aneuploidy and elevated DNA index, and may carry the same risk for progression to hepatocellular carcinoma.

  14. Radiographic Differential Diagnosis Between The Fibrous Dysplasia And The Ossifying Fibroma

    Energy Technology Data Exchange (ETDEWEB)

    Choi, Karp Shik [Dept. of Dental Radiology, College of Dentistry, Kyungpook National University, Daegu (Korea, Republic of)

    1999-02-15

    The author observed and compared the radiographic features of 49 cases of the fibrous dysplasia and 14 cases of the ossifying fibroma in the osteoblastic or mature stage radiologically and histopathologically. The obtained results were as follows: 1. Fibrous dysplasia occurred most frequently in the 2nd decade, but ossifying fibroma in the 3rd and 4th decades, and both lesions occurred with slight predilection in females. 2. In most cases, chief complaints were painless facial swelling. And 61.1% of fibrous dysplasia occurred in the maxilla, 92.9% of ossifying fibroma in the mandible, and most of these lesions occurred in the premolar-molar region. 3. In the mandibular lesions, ossifying fibroma was shown more oval and round shape, but fibrous dysplasia was shown fusiform shape. 4. Fibrous dysplasia was shown homogeneously distributed, complete radiopaque shadow at 63%, and ossifying fibroma was shown concentric, mixed appearance of radiolucent and radiopaque shadow at 92.9%. 5. Fibrous dysplasia was entirely shown poorly outlined and blended to normal surrounding bone, but ossifying fibroma was shown well-defined border. 6. Cortical thinning and expansion were observed in these lesions, but degree of cortical expansion was more severe in ossifying fibroma than fibrous dysplasia. 7. Loss of lamina dura, tooth displacement, and displacement of mandibular canal were observed in both lesions, but root resorption was observed in ossifying fibroma only.

  15. Acro-Dermato-Ungual-Lacrimal-Tooth Syndrome: An Uncommon Member of the Ectodermal Dysplasias.

    Science.gov (United States)

    Whittington, Adam; Stein, Sarah; Kenner-Bell, Brandi

    2016-09-01

    Acro-dermato-ungual-lacrimal-tooth (ADULT) syndrome is a rare form of autosomal dominant ectodermal dysplasia due to mutations in the TP63 gene, a locus that has also been implicated in other syndromic forms of ectodermal dysplasia. It shares many phenotypic characteristics with other TP63 gene mutation syndromes, often making an accurate diagnosis difficult. Long-term management and follow-up of the various sequelae of ectodermal dysplasia require an accurate diagnosis. We report a familial case of ADULT syndrome in a daughter, mother, and son and provide a brief review of the clinical characteristics of this syndrome.

  16. Clinical, radiographic, and histological findings of florid cemento-osseous dysplasia: a case report

    Energy Technology Data Exchange (ETDEWEB)

    Kim, Jeong Hee; Song, Byeong Chul; Kimn, Sun Ho; Park, Yang Soon [Seoul Veterans Hospital, Seoul (Korea, Republic of)

    2011-09-15

    Cemento-osseous dysplasias are a group of disorders known to originate from periodontal ligament tissue and involve, essentially, the same pathological process. They are usually classified into three main groups: periapical, florid, and focal cemental dysplasias depending on their extent and radiographic appearances. Radiographically, florid cementoosseous dysplasia (FCOD) appears as dense, lobulated masses, often symmetrically located in various regions of the jaws. The best management for the asymptomatic FCOD patient consists of regular recall examinations with prophylaxis. The management of the symptomatic patient is more difficult. A case of FCOD occurring in a 52-year-old edentulous Korean female is reported which is rare with regard to race and sex.

  17. Crohn’s Disease and Idiopathic Thrombocytopenic Purpura in a Patient with Ectodermal Dysplasia and Immunodeficiency

    Directory of Open Access Journals (Sweden)

    Farzaneh Motamed

    2006-09-01

    Full Text Available In this case report we will describe a rare association between anhyrotic ectodermal dysplasia (AED and immunodeficiency and autoimmunity [in our case: Idiopathic Thrombocytopenic Purpura (ITP and Crohn disease]. AED is a rare congenital disorder characterized by sparse hair, abnormal teeth and anhidrosis due to lack of eccrine glands. The survey of 87 cases with (AED revealed only one Irritable Bowel Disease (IBD.  AED has only two relevancies with immunodeficiency: (EDA-ID: Ectodermal Dysplasia Anhyrotic with Immunodeficiency and APE-CED (Autoimmune polyendocrinopathy, Candidiasis and Ectodermal Dysplasia that in our case EDA-ID is strongly suspected.

  18. Massive gastrointestinal bleeding:An unusual case of asymptomatic extrarenal,visceral,fibromuscular dysplasia

    Institute of Scientific and Technical Information of China (English)

    2007-01-01

    Extrarenal fibromuscular dysplasia causing gastrointestinal bleeding without other manifestations and especially sparing renal vasculature is uncommon. The diagnosis of this entity is usually made by radiographic appearance and the treatment is controversial. To our knowledge only seven cases of visceral fibromuscular dysplasia as a primary manifestation of the disease have been described, symptoms range from abdominal pain to gangrene. This is the first case of visceral fibromuscular dysplasia presenting with otherwise asymptomatic gastrointestinal bleeding, without bowel necrosis or ischemic changes. We provide a review of the literature.

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

    Directory of Open Access Journals (Sweden)

    P K Shivaprakash

    2012-01-01

    Full Text Available Ectrodactyly, ectodermal dysplasia, and cleft lip/palate (EEC is a rare syndrome having ectrodactyly, ectodermal dysplasia, and cleft lip/palate. So far, very few cases have been reported in literature. However, we report a case of incomplete EEC syndrome having ectrodactyly and cleft lip and palate with absence of signs of ectodermal dysplasia with no other systemic anomalies. Other feature noted is the syndactyly of toes which is reported rarely in this syndrome. A multidisciplinary approach for treatment is needed which is co-ordinated by pedodontist or pediatrician.

  20. Telescopic overdenture for oral rehabilitation of ectodermal dysplasia patient

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    Charu Gupta

    2015-01-01

    Full Text Available 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 treatment alternative for ED patients with compromised dentition and limited finances. A 21-year-old young girl presented with chief complaint of esthetics and mastication due to missing upper and lower teeth. A provisional diagnosis of ED was made based on familial history, physical, and oral examination. This clinical report describes management of an adult ED patient by means of telescopic overdenture prosthesis in mandibular arch and FDP in maxillary arch which restored esthetics, function, and social confidence of the patient in a cost effective manner.

  1. Telescopic overdenture for oral rehabilitation of ectodermal dysplasia patient

    Science.gov (United States)

    Gupta, Charu; Verma, Mahesh; Gupta, Rekha; Gill, Shubhra

    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 treatment alternative for ED patients with compromised dentition and limited finances. A 21-year-old young girl presented with chief complaint of esthetics and mastication due to missing upper and lower teeth. A provisional diagnosis of ED was made based on familial history, physical, and oral examination. This clinical report describes management of an adult ED patient by means of telescopic overdenture prosthesis in mandibular arch and FDP in maxillary arch which restored esthetics, function, and social confidence of the patient in a cost effective manner. PMID:26604583

  2. [Juvenile hip pain. 2. Femur head epiphysiolysis, hip dysplasia, tumors].

    Science.gov (United States)

    Hackenbruch, W; von Gumppenberg, S; Karpf, P M

    1978-11-09

    The early symptom in hip joint diseases in children is pain. Pain is localized in the groin and thight, but mostly in the knee. Other important signs are limping and reduced internal rotation. If a hip disease is suspected it is necessary to take X-rays in two planes. If diagnosis is early and special therapy started immediately, the results are usually excellent without deformation of the hip. Otherwise early osteoarthritis can develop. This is important because osteoarthritis in the hip joint is in 75% of the cases due to hip joint diseases in childhood. The problems of diagnosis and treatment of the most common hip joint diseases in children (transient synovitis, rheumatoid arthritis, osteomyelitis, Legg-Perthes disease, slipped capital femoral epiphysis, dysplasia, tumors) are discussed.

  3. Hyperostotic esthesioneuroblasma: Rare variant and fibrous dysplasia mimicker

    Energy Technology Data Exchange (ETDEWEB)

    Ahmed, Manzoor [Neuroradiology Section, Imaging Institute, Cleveland Clinic Foundation, Cleveland (United States); Knott, Phillip Daniel [Director of Facial Plastic and Reconstructive Surgery, Associate Professor of Otolaryngology, UCSF School of Medicine, San Fransisco (United States)

    2014-02-15

    A 65-year-old male presented with a 3-year history of orbital symptoms. An imaging-based diagnosis of fibrous dysplasia involving the skull base was made at another institution. CT showed a diffuse sinonasal mass and ground-glass appearance of the bones of the anterior skull base with bony defects and mucocele formation. MRI demonstrated an accompanying intracranial and orbital rind of soft tissue mass along the hyperostotic bones. FDG-PET showed corresponding intense hypermetabolism. Small cysts were observed at the tumor-brain interface. Biopsy revealed esthesioneuroblastoma with bone infiltration that is compatible with the hyperostotic variant of esthesioneuroblastoma. There are a few cases of hyperostotic esthesioneuroblastoma reported in the literature.

  4. Isolated dentinogenesis imperfecta and dentin dysplasia: revision of the classification.

    Science.gov (United States)

    de La Dure-Molla, Muriel; Philippe Fournier, Benjamin; Berdal, Ariane

    2015-04-01

    Dentinogenesis imperfecta is an autosomal dominant disease characterized by severe hypomineralization of dentin and altered dentin structure. Dentin extra cellular matrix is composed of 90% of collagen type I and 10% of non-collagenous proteins among which dentin sialoprotein (DSP), dentin glycoprotein (DGP) and dentin phosphoprotein (DPP) are crucial in dentinogenesis. These proteins are encoded by a single gene: dentin sialophosphoprotein (DSPP) and undergo several post-translational modifications such as glycosylation and phosphorylation to contribute and to control mineralization. Human mutations of this DSPP gene are responsible for three isolated dentinal diseases classified by Shield in 1973: type II and III dentinogenesis imperfecta and type II dentin dysplasia. Shield classification was based on clinical phenotypes observed in patient. Genetics results show now that these three diseases are a severity variation of the same pathology. So this review aims to revise and to propose a new classification of the isolated forms of DI to simplify diagnosis for practitioners.

  5. Clinical guidelines for the management of craniofacial fibrous dysplasia

    Directory of Open Access Journals (Sweden)

    Lee JS

    2012-05-01

    Full Text Available Abstract Fibrous dysplasia (FD is a non-malignant condition caused by post-zygotic, activating mutations of the GNAS gene that results in inhibition of the differentiation and proliferation of bone-forming stromal cells and leads to the replacement of normal bone and marrow by fibrous tissue and woven bone. The phenotype is variable and may be isolated to a single skeletal site or multiple sites and sometimes is associated with extraskeletal manifestations in the skin and/or endocrine organs (McCune-Albright syndrome. The clinical behavior and progression of FD may also vary, thereby making the management of this condition difficult with few established clinical guidelines. This paper provides a clinically-focused comprehensive description of craniofacial FD, its natural progression, the components of the diagnostic evaluation and the multi-disciplinary management, and considerations for future research.

  6. Overlapping DSPP mutations cause dentin dysplasia and dentinogenesis imperfecta.

    Science.gov (United States)

    McKnight, D A; Simmer, J P; Hart, P S; Hart, T C; Fisher, L W

    2008-12-01

    Dentinogenesis imperfecta (DGI) and dentin dysplasia (DD) are allelic disorders due to mutations in DSPP. Typically, the phenotype breeds true within a family. Recently, two reports showed that 3 different net -1 bp frameshift mutations early in DSPP's repeat domain caused DD, whereas 6 more 3' frameshift mutations were associated with DGI. Here we identify a DD kindred with a novel -1 bp frameshift (c.3141delC) that falls within the portion of the DSPP repeat domain previously associated solely with the DGI phenotype. This new frameshift mutation shows that overlapping DSPP mutations can give rise to either DGI or DD phenotypes. Furthermore, the consistent kindred presentation of the DD or DGI phenotype appears to be dependent on an as-yet-undescribed genetic modifier closely linked to DSPP.

  7. Case report 490: Monostotic fibrous dysplasia of the pubis

    Energy Technology Data Exchange (ETDEWEB)

    Buckwalter, J.A.; El-Khoury, G.; Bonfiglio, M.M.; Platz, C.C.

    1988-07-01

    An expansile lesion of the superior pubic ramus in a 32 year old man was discovered incidentally when roentgenograms were obtained to assess the possibility of fracture following an automobile accident. A technetium scan showed increased uptake in the lesion and computed tomography showed expansion of the superior pubic ramus and extension of the lesion from the pubic symphysis to the acetabulum. A needle aspirate of the lesion consisted of blood and giant cells. Based on the appearance of the lesion and the needle aspirate a preliminary diagnosis of giant cell tumor or aneurysmal bone cyst was made. When examined at the time of operation, the lesion was found to be firm and gritty. It was removed and the remaining bone surfaces curetted. Histological examination showed a pattern most consistent with fibrous dysplasia. The pubic ramus healed uneventfully.

  8. Bilaterally symmetric focal cortical dysplasia in a golden retriever dog.

    Science.gov (United States)

    Casey, K M; Bollen, A W; Winger, K M; Vernau, K M; Dickinson, P J; Higgins, R J; Sisó, S

    2014-11-01

    A 10-year-old golden retriever dog was referred with a 24-h history of generalized seizures. Magnetic resonance imaging of the brain found no abnormalities on 3 mm transverse sections and the dog was subsequently humanely destroyed. Microscopically there was bilaterally symmetrical focal disorganization of cortical grey matter within the tips of the right and left suprasylvian gyri of the temporal cortex. The focal abnormal cortical lamination was characterized by loss of pyramidal neurons with abnormal, irregular, angular, remaining neurons occasionally forming clusters, surrounded by fibrillary astrogliosis and microgliosis and vascular proliferation. These histological findings are consistent with focal cortical dysplasia, a cerebral cortical malformation that causes seizures in people, but not reported previously in the dog.

  9. Gastric Juvenile Polyposis with High-Grade Dysplasia in Pachydermoperiostosis

    Directory of Open Access Journals (Sweden)

    L. de Mestier

    2011-09-01

    Full Text Available Pachydermoperiostosis (PDP is the primary form of hypertrophic osteoarthropathy. It is a very rare disease consisting of pachydermia, digital clubbing and radiologic periostosis. Various digestive symptoms in PDP are seen in 11–49% of patients and juvenile polyps may be found at gastric endoscopy. We report here the history of a patient with PDP who was referred for assessment of severe anemia. Endoscopy of the upper digestive tract showed multiple polyps of the stomach with two huge lesions exhibiting foci of high-grade dysplasia. This observation suggests that PDP can be considered as a precancerous condition of the stomach and systematic screening using endoscopy should be considered in these patients.

  10. Fibrous dysplasia of bone: craniofacial and dental implications.

    Science.gov (United States)

    Burke, A B; Collins, M T; Boyce, A M

    2016-08-05

    Fibrous dysplasia (FD) is a rare bone disease caused by postzygotic somatic activating mutations in the GNAS gene, which lead to constitutive activation of adenylyl cyclase and elevated levels of cyclic AMP, which act on downstream signaling pathways and cause normal bone to be replaced with fibrous tissue and abnormal (woven) bone. The bone disease may occur in one bone (monostotic), multiple bones (polyostotic), or in combination with hyperfunctioning endocrinopathies and hyperpigmented skin lesions (in the setting of McCune-Albright Syndrome). FD is common in the craniofacial skeleton, causing significant dysmorphic features, bone pain, and dental anomalies. This review summarizes the pathophysiology, clinical findings, and treatment of FD, with an emphasis on the craniofacial and oral manifestations of the disease.

  11. Central retinal artery occlusion in association with fibromuscular dysplasia.

    Science.gov (United States)

    Altun, Ahmet; Altun, Gulengul; Olcaysu, Osman Okan; Kurna, Sevda Aydin; Aki, Suat Fazil

    2013-01-01

    A 14 year-old female, whose chief complaint was severe vision loss in the right eye for 2 days, presented to the Clinic of Ophthalmology of Fatih Sultan Mehmet Education and Research Hospital. The patient had been attending follow-up visits for 4 years, following a diagnosis of fibromuscular dysplasia by the Clinic of Pediatrics. The patient underwent a complete ophthalmo-logic, angiographic, hematologic, and systemic evaluation. Fundus fluorescein angiography was performed immediately, because of the cherry-red spot sign in the macula of the right eye. Fundus fluorescein angiography revealed evidence of marked stasis of the retinal arterial circulation in the right eye. Best corrected visual acuity was 20/400 in the right eye and 20/20 in the left eye.

  12. Troglostrongylus brevior and Troglostrongylus subcrenatus (Strongylida: Crenosomatidae as agents of broncho-pulmonary infestation in domestic cats

    Directory of Open Access Journals (Sweden)

    Brianti Emanuele

    2012-08-01

    Full Text Available Abstract Background Aelurostrongylus abstrusus is currently regarded as the main metastrongyloid infesting domestic cats, whereas the reports of Troglostrongylus spp. in domestic and wild felids largely remain anecdotic. This paper reports on pulmonary infestation caused by Troglostrongylus brevior and Troglostrongylus subcrenatus in two kittens and describes, for the first time, associated clinical presentations and pathological features. Morphometrical, molecular and phylogenetic analyses have also been conducted to differentiate here the examined Troglostrongylus species from A. abstrusus, towards a clearer delineation of metastrongyloids affecting cats. Methods Two kittens were referred for respiratory distress and hospitalized with a diagnosis of severe aelurostrongylosis, based on the presence of metastrongyloid larvae in the faeces. Despite prompt treatment, kittens died within 48 hours. Both kittens were submitted to necropsy to determine the cause of death. Results At necropsy, nematode specimens were found in the trachea, bronchi and bronchioles and were associated with respiratory signs (i.e., dyspnoea, polypnea, severe coughing and nasal discharge. Morphology and measurements of adult parasites found allowed the unequivocal identification of T. brevior and T. subcrenatus, even if first stage larvae were rather similar to those of A. abstrusus. Briefly, T. brevior and T. subcrenatus larvae were shorter in length and lacking the typical knob-like terminal end of A. abstrusus. Molecular and phylogenetic analyses corroborated morphological identification and provided data on mitochondrial and ribosomal DNA genes of T. brevior. Conclusions Data presented here indicate that T. brevior and T. subcrenatus may cause major respiratory distress in domestic cats. Consequently, these two species should be included, along with A. abstrusus, in the differential diagnosis of cat bronchopulmonary affections and treatment protocols need to be

  13. Assessing dysplasia of a bronchial biopsy with FTIR spectroscopic imaging

    Science.gov (United States)

    Foreman, Liberty; Kimber, James A.; Oliver, Katherine V.; Brown, James M.; Janes, Samuel M.; Fearn, Tom; Kazarian, Sergei G.; Rich, Peter

    2015-03-01

    An FTIR image of an 8 µm section of de-paraffinised bronchial biopsy that shows a histological transition from normal to severe dysplasia/squamous cell carcinoma (SCC) in situ was obtained in transmission by stitching together images of 256 x 256 µm recorded using a 96 x 96 element FPA detector. Each pixel spectrum was calculated from 128 co-added interferograms at 4 cm-1 resolution. In order to improve the signal to noise ratio, blocks of 4x4 adjacent pixels were subsequently averaged. Analyses of this spectral image, after conversion of the spectra to their second derivatives, show that the epithelium and the lamina propria tissue types can be distinguished using the area of troughs at either 1591, 1334, 1275 or 1215 cm-1 or, more effectively, by separation into two groups by hierarchical clustering (HCA) of the 1614-1465 region. Due to an insufficient signal to noise ratio, disease stages within the image could not be distinguished with this extent of pixel averaging. However, after separation of the cell types, disease stages within either the epithelium or the lamina propria could be distinguished if spectra were averaged from larger, manually selected areas of the tissue. Both cell types reveal spectral differences that follow a transition from normal to cancerous histology. For example, spectral changes that occurred in the epithelium over the transition from normal to carcinoma in situ could be seen in the 1200-1000 cm-1 region, particularly as a decrease in the second derivative troughs at 1074 and 1036 cm-1 , consistent with changes in some form of carbohydrate. Spectral differences that indicate a disease transition from normal to carcinoma in the lamina propria could be seen in the 1350-1175 cm-1 and 1125-1030 cm-1 regions. Thus demonstrating that a progression from healthy to severe dysplasia/squamous cell carcinoma (SCC) in situ can be seen using FTIR spectroscopic imaging and multivariate analysis.

  14. Diagnosis, prevention, and management of canine hip dysplasia: a review

    Directory of Open Access Journals (Sweden)

    Schachner ER

    2015-05-01

    Full Text Available Emma R Schachner, Mandi J Lopez Department of Veterinary Clinical Sciences, School of Veterinary Medicine, Louisiana State University, Baton Rouge, LA, USA Abstract: Canine hip dysplasia (CHD is a polygenic and multifactorial developmental disorder characterized by coxofemoral (hip joint laxity, degeneration, and osteoarthritis (OA. Current diagnostic techniques are largely subjective measures of joint conformation performed at different stages of development. Recently, measures on three-dimensional images generated from computed tomography scans predicted the development of OA associated with CHD. Continued refinement of similar imaging methods may improve diagnostic imaging techniques to identify dogs predisposed to degenerative hip joint changes. By current consensus, joint changes consistent with CHD are influenced by genetic predisposition as well as environmental and biomechanical factors; however, despite decades of work, the relative contributions of each to the development and extent of CHD signs remain elusive. Similarly, despite considerable effort to decipher the genetic underpinnings of CHD for selective breeding programs, relevant genetic loci remain equivocal. As such, prevention of CHD within domestic canine populations is marginally successful. Conservative management is often employed to manage signs of CHD, with lifelong maintenance of body mass as one of the most promising methods. Surgical intervention is often employed to prevent joint changes or restore joint function, but there are no gold standards for either goal. To date, all CHD phenotypes are considered as a single entity in spite of recognized differences in expression and response to environmental conditions and treatment. Identification of distinct CHD phenotypes and targeting evidence-based conservative and invasive treatments for each may significantly advance prevention and management of a prevalent, debilitating condition in canine companions. Keywords: canine

  15. Microcephaly, ectodermal dysplasia, multiple skeletal anomalies and distinctive facial appearance: delineation of cerebro-dermato-osseous-dysplasia.

    Science.gov (United States)

    Castori, Marco; Pascolini, Giulia; Parisi, Valentina; Sana, Maria Elena; Novelli, Antonio; Nürnberg, Peter; Iascone, Maria; Grammatico, Paola

    2015-04-01

    In 1980, a novel multiple malformation syndrome has been described in a 17-year-old woman with micro- and turricephaly, intellectual disability, distinctive facial appearance, congenital atrichia, and multiple skeletal anomalies mainly affecting the limbs. Four further sporadic patients and a couple of affected sibs are also reported with a broad clinical variability. Here, we describe a 4-year-old girl strikingly resembling the original report. Phenotype comparison identified a recurrent pattern of multisystem features involving the central nervous system, and skin and bones in five sporadic patients (including ours), while the two sibs and a further sporadic case show significant phenotypic divergence. Marked clinical variability within the same entity versus syndrome splitting is discussed and the term "cerebro-dermato-osseous dysplasia" is introduced to define this condition.

  16. Frontonasal and fibrous dysplasia in a patient with unilateral cleft lip and palate.

    Science.gov (United States)

    Weathers, William M; Wolfswinkel, Erik M; Albright, Steven B; Hollier, Larry H; Buchanan, Edward P

    2013-07-01

    Frontonasal dysplasia is a rare entity. It has characteristic physical deformities: hypertelorism, broad nasal root, median facial cleft of the upper lip or palate, clefting of the nasal alae, poorly formed nasal tip, cranium bifidum occultum, and a widow's peak hairline. Fibrous dysplasia is a benign bone tumor in which normal bone is replaced by fibrous, poorly formed osseus tissues. We present a patient with frontonasal dysplasia who desired correction of her hypertelorism. Incidentally, fibrous dysplasia was found in her left orbit complicating surgical correction. In addition, the patient has velopharyngeal insufficiency and a class III malocclusion. The interplay of all these craniofacial defects makes the sequencing and timing of surgery important in this unique patient.

  17. Cytobrush and endocervical curettage in the diagnosis of dysplasia and malignancy of the uterine cervix

    DEFF Research Database (Denmark)

    Mogensen, S T; Bak, Martin; Dueholm, M;

    1997-01-01

    The validity of cytobrush and endocervical curettage combined with colposcopically directed biopsies in the diagnosis of cervical dysplasia and malignancy has not been evaluated in randomized trials. We aimed to elucidate the diagnostic validity of the two methods....

  18. Mucinous cyst exhibiting severe dysplasia in gastric heterotopic pancreas associated withe gastrointestinal stromal tumour

    Institute of Scientific and Technical Information of China (English)

    2007-01-01

    Heterotopic pancreatic tissue within the stomach is rare and dysplasia within heterotopic pancreatic tissue is very rare. We present the first report of a patient with concurrent occurrence of heterotopic pancreas in the stomach with a gastrointestinal stromal tumour.

  19. 7 tesla T2*-weighted MRI as a tool to improve detection of focal cortical dysplasia.

    Science.gov (United States)

    Veersema, Tim J; van Eijsden, Pieter; Gosselaar, Peter H; Hendrikse, Jeroen; Zwanenburg, Jaco J M; Spliet, Wim G M; Aronica, Eleonora; Braun, Kees P J; Ferrier, Cyrille H

    2016-09-01

    Focal cortical dysplasia is one of the most common underlying pathologies in patients who undergo surgery for refractory epilepsy. Absence of a MRI-visible lesion necessitates additional diagnostic tests and is a predictor of poor surgical outcome. We describe a series of six patients with refractory epilepsy due to histopathologically-confirmed focal cortical dysplasia, for whom pre-surgical 7 tesla T2*-weighted MRI was acquired. In four of six patients, T2* sequences showed areas of marked superficial hypointensity, co-localizing with the epileptogenic lesion. 7 tesla T2* hypointensities overlying focal cortical dysplasia may represent leptomeningeal venous vascular abnormalities associated with the underlying dysplastic cortex. Adding T2* sequences to the MRI protocol may aid in the detection of focal cortical dysplasias.

  20. Fibrous dysplasia of the jaws associated with secondary hyperparathyroidism: a case report

    Energy Technology Data Exchange (ETDEWEB)

    Whi, Jung Hyun; Kim, Young Joo; Chun, Kyung Ah; Kim, Ki Tae; Chang, Eun Deok; Kim, Young Ok; Lee, Won [The Catholic University of Korea, Uijongbu (Korea, Republic of)

    2007-06-15

    There have been few reports on fibrous dyplasia associated with secondary hyperparathyroidism. We report a case of a hemodialysis patient with secondary hyperparathyroidism concomitant with fibrous dysplasia of the jaws causing an abnormal deformity.

  1. A Genetic Variants Database for Arrhythmogenic Right Ventricular Dysplasia/Cardiomyopathy

    NARCIS (Netherlands)

    van der Zwaag, Paul A.; Jongbloed, Jan D. H.; van den Berg, Maarten P.; van der Smagt, Jasper J.; Jongbloed, Roselie; Bikker, Hennie; Hofstra, Robert M. W.; van Tintelen, J. Peter

    2009-01-01

    Arrhythmogenic right ventricular dysplasia/cardiomyopathy (ARVD/C) is a hereditary cardiomyopathy characterized by fibrofatty replacement of cardiomyocytes, ventricular tachyarrhythmias and sudden death. ARVD/C is mainly caused by mutations in genes encoding desmosomal proteins. However, the pathoge

  2. Ectrodactyly, Ectodermal dysplasia, and Cleft Lip-Palate Syndrome; Its Association with Conductive Hearing Loss

    Science.gov (United States)

    Robinson, Geoffrey C.; And Others

    1973-01-01

    Conductive hearing loss associated with the ectrodactyly, ectodermal dysplasia, and cleft lip palate syndrome was reported in one sporadic case and in a pedigree with four cases in three generations. (GW)

  3. [A case of EEC (ectrodactyly, ectodermal dysplasia, and cleft lip) syndrome].

    Science.gov (United States)

    Nakamura, K; Yoshimasu, H; Komuro, C; Kobayashi, A; Moon, K; Sato, M; Yamashiro, M; Arai, N; Shioiri, S; Amagasa, T

    1991-12-01

    EEC syndrome is a rare congenital malformation characterized by ectrodactyly, ectodermal dysplasia, cleft lip and/or palate. We reported a case of EEC syndrome with cleft palate. The patient was a 15-month-old girl. She had split hands of the upper extremities, syndactyly and polydactyly of the right lower extremity, ectodermal dysplasia including sparse hair, enamel hypoplasia and cleft palate. The patient underwent palatoplasty at the age of 18 months.

  4. Prospective detection of cortical dysplasia on clinical MRI in pediatric intractable epilepsy

    Energy Technology Data Exchange (ETDEWEB)

    Radhakrishnan, Rupa; Leach, James L.; Gelfand, Michael J. [Cincinnati Children' s Hospital Medical Center, Department of Radiology, Cincinnati, OH (United States); Mangano, Francesco T. [Cincinnati Children' s Hospital Medical Center, Department of Neurosurgery, Cincinnati, OH (United States); Rozhkov, Leonid; Greiner, Hansel M. [Cincinnati Children' s Hospital Medical Center, Department of Neurology, Comprehensive Epilepsy Treatment Center, Cincinnati, OH (United States); Miles, Lili [Cincinnati Children' s Hospital Medical Center, Department of Pathology, Cincinnati, OH (United States)

    2016-09-15

    Cortical dysplasia is the most common cause of pediatric refractory epilepsy. MRI detection of epileptogenic lesion is associated with good postsurgical outcome. Additional electrophysiological information is suggested to be helpful in localization of cortical dysplasia. Educational measures were taken to increase the awareness of cortical dysplasia at our institution in the context of a recent International League Against Epilepsy (ILAE 2011) classification of cortical dysplasia. To determine changes in the rate of prospective identification of cortical dysplasia on an initial radiology report and also evaluate the benefit of MRI review as part of a multidisciplinary epilepsy conference in identifying previously overlooked MRI findings. We retrospectively evaluated surgically treated children with refractory epilepsy from 2007 to 2014 with cortical dysplasia on histopathology. We analyzed the initial radiology report, preoperative MRI interpretation at multidisciplinary epilepsy conference and subsequent retrospective MRI review with knowledge of the resection site. We recorded additional electrophysiological data and the presence of lobar concordance with the MRI findings. Of 78 children (44 MRI lesional) evaluated, 18 had initially overlooked MRI findings. Comparing 2007-2010 to 2011-2014, there was improvement in the rate of overlooked findings on the initial radiology report (54% vs. 13% of lesional cases, respectively; P = 0.008). The majority (72%) were identified at a multidisciplinary conference with lobar concordance of findings with at least one additional electrophysiological investigation in 89%. Awareness of current classification schemes of cortical dysplasia and image review in the context of a multidisciplinary conference can lead to improved MRI detection of cortical dysplasia in children. (orig.)

  5. Poliostotic fibrous dysplasia in the left maxilla sinus. Case of presentation.

    Directory of Open Access Journals (Sweden)

    Félix Dueñas Ros

    2007-04-01

    Full Text Available We present a clinic case of poliostotic fibrous dysplasia in the left maxilla sinus extended to Pterigopaltinar cavity and sphenoid sinus in a 26 year old woman who suffer from facial deformation. Paranasal x ray images didn’t permit to make the differential diagnosis between tumor or inflammatory lesions at the beginning, CT scan showed hiperdensy lesions like a tumor that suggest fibrous dysplasia. The final diagnosis was obtained by biopsy of the lesions.

  6. Modern conceptions about mechanisms of progression process of hip dysplasia in children (review

    Directory of Open Access Journals (Sweden)

    Sertakova А.V.

    2011-09-01

    Full Text Available In the literature review of modern data concerning mechanisms of formation and progression process of hip dysplasia in children is represented. The questions concerning classification, processes of morphological and functional (biochemical change of osteocartilaginous components of hip in children with connective tissue dysplasia, changes of content of remodeling and skeletal system degradation markers, angiogenesis in the process of progression of pathological changes in joint are taken up

  7. Septo-optic dysplasia, subglottic stenosis and skeletal abnormalities: a case report.

    Science.gov (United States)

    Wakeling, Emma L; Dattani, Mehul T; Bloch-Zupan, A; Winter, Robin M; Holder, Susan E

    2003-04-01

    We report a girl with septo-optic dysplasia in association with subglottic stenosis, sagittal craniosynostosis, osteoporosis and dental anomalies. It is uncommon for patients with septo-optic dysplasia to have multiple, extra-cranial malformations. A number of differential diagnoses were considered in this case, including Cole-Carpenter syndrome, Pfeiffer syndrome and osteoglophonic dwarfism. However, none can account for all the abnormalities seen. We therefore believe that this is a previously unreported, but highly distinctive, phenotype.

  8. Glandular Dysplasia of the Uterine Endocervix A Morphological and Immunohistochemical Study

    OpenAIRE

    中西, 慶喜

    1991-01-01

    The endocervical mucosa was evaluated morphologically and immunohistochemically in 935 cases (441 non-cancerous, 347 squamous cell carcinoma, 109 mixed type of adenocarcinoma and squamous cell carcinoma and 38 adenocarcinoma of the cervix) to indicate the relationship between glandular dysplasia and endocervical adenocarcinoma. The following results were obtained. (1) Glandular dysplasia occurred in 35.9% of the cases with endocervical adenocarcinoma including co-existence with squamous c...

  9. Hypohidrotic ectodermal dysplasia with ankylosis of temporomandibular joint and cleft palate: A rare presentation

    Directory of Open Access Journals (Sweden)

    Manisha Goyal

    2015-01-01

    Full Text Available The ectodermal dysplasias are a heterogenous group of diseases, which have one or more anomalies of the hair, teeth, nails, and sweat glands. Hypohidrotic ectodermal dysplasia (HED is the most common type and is usually transmitted as an X-linked recessive trait. It is characterized by classical triad of hypotrichosis, anhidrosis/hypohidrosis, and hypodontia/anodontia. Here, we describe an Indian boy affected with HED and rare features including ankylosis of temporomandibular joint and cleft palate.

  10. [Condyloma latum, its incidence and association with cervical-uterine cancer and dysplasias].

    Science.gov (United States)

    Uribarren Berrueta, O; Lara Calderón, J

    1992-02-01

    Cervicouterine carcinoma is a public health problem in México, because of its high rate and mortality. In the present study, the frequency of flat condyloma was 11.06%. Association between dysplasia, cervicouterine carcinoma and flat condyloma was 67.2%. The risk of developing dysplasia or cervicouterine carcinoma if flat condyloma is present is 24%. Age and parity together with grade of lesion arte determinant to choice management. Malignancy must be discarded when a cervical lesion is diagnosed.

  11. Efficacy of an oral hyaluronate and collagen supplement as a preventive treatment of elbow dysplasia.

    Science.gov (United States)

    Martí-Angulo, Simón; García-López, Núria; Díaz-Ramos, Ana

    2014-12-01

    One hundred and five Labrador dogs were randomly divided into two groups to determine the number of animals that develop elbow dysplasia when treated with an oral supplement compared to untreated ones. Efficacy of the oral treatment was also evaluated once illness was diagnosed. The supplement (Hyaloral) contained hyaluronic acid, hydrolysed collagen, glucosamine, chondroitin sulphate, and gamma oryzanol. Clinical evaluation of the elbow joints was completed at months 3, 6, 12, and 20 by orthopaedic evaluations, radiography, serologic and blood analysis, and veterinarian evaluation of dysplasia symptoms. All side effects were recorded. In the control group, 33.3% of the dogs developed radiographic evidence of elbow dysplasia compared to 18.5% in the treated group. Symptoms of dysplasia at 12 months differed between the treated (12.5%) and control (61.5%) animals, and were significantly different at 20 months (p oral treatment with Hyaloral may have a potential cumulative action that provides protection against dysplasia and significantly improves symptoms of elbow dysplasia.

  12. Reconstruction of the Acetabulum in Developmental Dysplasia of the Hip in Total Hip Replacement

    Directory of Open Access Journals (Sweden)

    Vasileios Sakellariou

    2014-09-01

    Full Text Available Developmental dysplasia of the hip (DDH or congenital hip dysplasia (CDH is the most prevalent developmental childhood hip disorder. It includes a wide spectrum of hip abnormalities ranging from dysplasia to subluxation and complete dislocation of the hip joint. The natural history of neglected DDH in adults is highly variable. The mean age of onset of symptoms is 34.5 years for dysplastic DDH, 32.5 years for low dislocation, 31.2 years for high dislocation with a false acetabulum, and 46.4 years for high dislocation without a false acetabulum. Thorough understanding of the bony and soft tissue deformities induced by dysplasia is crucial for the success of total hip arthroplasty. It is important to evaluate the existing acetabular deformity three-dimensionally, and customize the correction in accordance with the quantity and location of ace tabular deficiencies. Acetabular reconstruction in patients with DDH is hallenging. Interpretation of published data is difficult and should be done with caution because most series include patients with different types of hip disease. In general, the complication rate associated with THA is higher in patients with hip dysplasia than it is in patients with osteoarthritis. Overall, clinical and functional outcomes following THA in patients hip dysplasia (DDH differ from those treated for primary hip osteoarthritis, possibly due to the lower age and level of activity. Although function scores decline with age, the scores for pain and range of motion presented with a statistically significant improvement in the long-term.

  13. Aspergilose broncopulmonar alérgica com imagem radiológica em "dedo de luva" Allergic bronchopulmonary aspergillosis presenting a glove-finger shadow in radiographic images

    Directory of Open Access Journals (Sweden)

    Marta Elizabeth Kalil

    2006-10-01

    Full Text Available A aspergilose broncopulmonar alérgica é uma doença pulmonar que ocorre em pacientes com asma ou fibrose cística, desencadeada pela reação de hipersensibilidade à presença do fungo Aspergilus fumigatus nas vias aéreas. Relatamos aqui um caso em que uma paciente com quadro clínico sugestivo de asma apresentou critérios clínicos, laboratoriais e radiológicos compatíveis com o diagnóstico de aspergilose broncopulmonar alérgica. A importância de tais achados deve-se ao fato de que quanto mais precocemente for feito o diagnóstico, menores serão os riscos de agravamento do quadro respiratório e de aparecimento de fibrose.Allergic bronchopulmonary aspergillosis is a lung disease occurring in patients with asthma or cystic fibrosis, triggered by a hypersensitivity reaction to the presence of Aspergillus fumigatus in the airways. We report herein the case of a patient presenting a clinical profile suggestive of asthma and meeting the clinical, laboratory testing and radiological criteria for a diagnosis of allergic bronchopulmonary aspergillosis. The importance of such findings is that early diagnosis can reduce the risk of respiratory exacerbations and fibrosis.

  14. [Toxocariasis in children and adolescents with allergic and bronchopulmonary diseases, HIV infection, hepatitis B and C risk groups: results of serological screening].

    Science.gov (United States)

    Pautova, E A; Dovgalev, A S; Astanina, S Iu

    2013-01-01

    Enzyme immunoassay was used to determine the presence of immunoglobulins class G to Toxocara canis antigens in the sera of children and adolescents (hereinafter referred to as children) with allergic and bronchopulmonary diseases from HIV infection and hepatitis B and C risk groups. A total of 422 dwellers of the Republic of Altai, including 144 subjects aged 1 to 17 years, were examined. Toxocara antibodies were found in 18.8 +/- 3.3% of the children and in 21.9 +/- 2.5% of the adults. The infection rate in children with bronchopulmonary and allergic diseases was 27.1 +/- 5.8 and 14.3 +/- 5.0%, respectively; that in the hepatitis B and C risk groups was 13.1 +/- 6.2%. The children (n = 6) from the HIV infection risk group were seronegative. The infection rate in the adults from the HIV infection and hepatitis risk group was 19.2 +/- 3.5 and 24.3 +/- 3.5%, respectively. Diagnostic antibody titers in the children and adults were determined in 9.0 +/- 2.3 and 8.3 +/- 1.6%, respectively. Immunological assays should be used to rule out toxocariasis in the examinees. If there are seropositive results, specific antiparasitic threatment should be performed.

  15. Triple pelvic osteotomy in the treatment of hip dysplasia

    Directory of Open Access Journals (Sweden)

    Vukašinović Zoran

    2009-01-01

    Full Text Available Introduction. Insufficient femoral head coverage is found in a variety of diseases, with acetabular dysplasia as the most frequent disorder and triple pelvic osteotomy as the most recently introduced surgical treatment. Objective. This study analyses pre- and postoperative pathoanatomic characteristics of triple in comparison to Salter and Chiari osteotomies, with a logistic regression analysis of outcome predictor and effect explanator factors in relation to the chosen type of operation. Methods. The study involved 136 adolescents treated with Salter and Chiari osteotomies or a triple pelvic osteotomy at the Institute of Orthopaedic Surgery 'Banjica' in Belgrade. The patients were between 10-20 years old at the time of operation. We collected and analyzed data from all the patients: illness history, operative parameters, preoperative and postoperative pathoanatomic data. The data was statistically processed using the statistical software SPSS, defining standard descriptive values, and by using the appropriate tests of analytic statistics: t-test for dependent and independent variables, χ2-test, Fisher's exact test, Wilcoxon's test, parameter correlation, one-way ANOVA, multi-factorial ANOVA and logistic regression, according to the type of the analyzed data and the conditions under which the statistical methods were applied. Results. The average CE angle after triple pelvic osteotomy was 43.5°, more improved than after the Salter osteotomy (33.0° and Chiari osteotomy (31.4° (F=16.822; p<0.01. Postoperative spherical congruence was also more frequent after the triple osteotomy than after the other two types of operations, and with a high significance. Preoperative painful discomfort was found to be a valid predictor of indications for the triple osteotomy over both Chiari and Salter osteotomies. The valid explanators of effect for the triple osteotomy are: postoperative joint congruence (compared to the Chiari osteotomy and increase in joint

  16. Emerging insights into the genetic basis of canine hip dysplasia

    Directory of Open Access Journals (Sweden)

    Ginja M

    2015-05-01

    Full Text Available Mário Ginja,1 Ana Rita Gaspar,1 Catarina Ginja,2,3 1Department of Veterinary Sciences-CITAB, University of Trás-os-Montes and Alto Douro, Vila Real, Portugal; 2Ce3C – Centro de Ecologia, Evolução e Alterações Ambientais, Faculdade de Ciências, Universidade de Lisboa, Lisboa, Portugal; 3CIBIO-InBIO – Centro de Investigação em Biodiversidade e Recursos Genéticos, Universidade do Porto, Vairão, Portugal Abstract: Canine hip dysplasia (CHD is the most common inherited polygenic orthopedic trait in dogs with the phenotype influenced also by environmental factors. This trait was described in the dog in 1935 and leads to a debilitating secondary hip osteoarthritis. The diagnosis is confirmed radiographically by evaluating signs of degenerative joint disease, incongruence, and/or passive hip joint laxity. There is no ideal medical or surgical treatment so prevention based on controlled breeding is the optimal approach. The definitive CHD diagnosis based on radiographic examination involves the exposure to ionizing radiation under general anesthesia or heavy sedation but the image does not reveal the underlying genetic quality of the dog. Phenotypic expression of CHD is modified by environmental factors and dogs with a normal phenotype can be carriers of some mutations and transmit these genes to their offspring. Programs based on selection of dogs with better individual phenotypes for breeding are effective when strictly applied but remain inferior to the selection of dogs based on estimation of breeding values. Molecular studies for dissecting the genetic basis of CHD are ongoing, but progress has been slow. In the future, the recommended method to improve hip quality in controlled breeding schemes, which will allow higher selection pressure, would be based on the estimation of the genomic breeding value. Since 2012, a commercial DNA test has been available for Labrador Retrievers using a blood sample and provides a probability for

  17. Systemic connective tissue features in women with fibromuscular dysplasia.

    Science.gov (United States)

    O'Connor, Sarah; Kim, Esther Sh; Brinza, Ellen; Moran, Rocio; Fendrikova-Mahlay, Natalia; Wolski, Kathy; Gornik, Heather L

    2015-10-01

    Fibromuscular dysplasia (FMD) is a non-atherosclerotic disease associated with hypertension, headache, dissection, stroke, and aneurysm. The etiology is unknown but hypothesized to involve genetic and environmental components. Previous studies suggest a possible overlap of FMD with other connective tissue diseases that present with dissections and aneurysms. The aim of this study was to investigate the prevalence of connective tissue physical features in FMD. A total of 142 FMD patients were consecutively enrolled at a single referral center (97.9% female, 92.1% of whom had multifocal FMD). Data are reported for 139 female patients. Moderately severe myopia (29.1%), high palate (33.1%), dental crowding (29.7%), and early-onset arthritis (15.6%) were prevalent features. Classic connective features such as hypertelorism, cleft palate, and hypermobility were uncommon. The frequency of systemic connective tissue features was compared between FMD patients with a high vascular risk profile (having had ⩾1 dissection and/or ⩾2 aneurysms) and those with a standard vascular risk profile. A history of spontaneous pneumothorax (5.9% high risk vs 0% standard risk) and atrophic scarring (17.6% high risk vs 6.8% standard risk) were significantly more prevalent in the high risk group, pconnective tissue features such as high palate and pneumothorax were more prominent among FMD patients with a high vascular risk profile.

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

    DEFF Research Database (Denmark)

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

    1995-01-01

    and 6 with HPV type 33) evenly distributed in all age groups and in all types of lesions (WHO and Toki et al. 1991). By ISH HPV was detected in 24/62 cases (39%) (21 with HPV type 16/18 and 3 with HPV type 31/33), nearly always in warty areas. All these cases were positive for the same virus type by PCR...... whereas no case of pure basaloid type was found. Various combinations of warty and basaloid types were shown in 52 cases and mixed forms in 7 cases. The results indicate that pure forms of warty and basaloid types probably do not exist. HPV DNA was detected by PCR in 51/58 cases (88%) (45 with HPV type 16....... 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....

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

    Science.gov (United States)

    Lu, Hui; Zeng, Binghui; Yu, Dongsheng; Jing, Xiangyi; Hu, Bin; 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 supernumerary teeth, a cystic lesion, and previously unreported fused primary teeth were discovered on cone-beam computed tomography (CBCT) scans. Mutation analysis identified the causal c.578G>A (p.R193Q) mutation in the RUNX2 gene. At 20 years of age, the patient had already missed the optimal period for dental intervention. This report describes the complex dental anomalies in a belatedly diagnosed CCD patient, and emphasizes the significance of CBCT assessment for the detection of dental anomalies and the importance of early treatment to achieve good outcomes. PMID:26389062

  20. Hereditary bone dysplasia with pathological fractures and nodal osteoarthropathy

    Energy Technology Data Exchange (ETDEWEB)

    Arendse, Regan [University of Stellenbosch, Department of Medicine, Tygerberg Hospital, Stellenbosch (South Africa); University of Cape Town, Division of Rheumatology, Groote Schuur Hospital, Cape Town (South Africa); Brink, Paul [University of Stellenbosch, Department of Medicine, Tygerberg Hospital, Stellenbosch (South Africa); Beighton, Peter [University of Cape Town, Division of Human Genetics, Faculty of Health Sciences, Cape Town (South Africa)

    2009-12-15

    A father and daughter both had multiple pathological fractures and nodal osteoarthropathy. The father, aged 50 years, had at least 20 healed fractures of the axial and appendicular skeleton, sustained by minor trauma over his 50-year lifespan, many of which had been surgically fixed prior to his first presentation to us. Fractures of the clavicles, thoracic cage and long bones of the arms and legs, had healed with malalignment and deformity. Healed fractures were complicated by ankylosis of the cervical vertebrae and both elbows. He also had osteoarthritis of the hands, with exuberant osteophytosis, and profound perceptive deafness. His general health was good, his intellect and facies were normal, and his sclerae were white. The daughter, aged 27 years, had sustained at least seven fractures of the axial and appendicular skeleton following trivial injuries, in distribution similar to those of the father. She had also experienced painful swelling of the fingers, which preceded progressive development of nodal osteoarthropathy. Her hearing was normal. In both individuals, biochemical and immunological investigations yielded normal results. It was not possible for molecular studies to be undertaken. Pedigree data were consistent with autosomal dominant transmission, and this disorder appeared to be a previously undocumented heritable skeletal dysplasia. (orig.)

  1. Identification of CANT1 Mutations in Desbuquois Dysplasia

    Science.gov (United States)

    Huber, Céline; Oulès, Bénédicte; Bertoli, Marta; Chami, Mounia; Fradin, Mélanie; Alanay, Yasemin; Al-Gazali, Lihadh I.; Ausems, Margreet G.E.M.; Bitoun, Pierre; Cavalcanti, Denise P.; Krebs, Alexander; Le Merrer, Martine; Mortier, Geert; Shafeghati, Yousef; Superti-Furga, Andrea; Robertson, Stephen P.; Le Goff, Carine; Muda, Andrea Onetti; Paterlini-Bréchot, Patrizia; Munnich, Arnold; Cormier-Daire, Valérie

    2009-01-01

    Desbuquois dysplasia is a severe condition characterized by short stature, joint laxity, scoliosis, and advanced carpal ossification with a delta phalanx. Studying nine Desbuquois families, we identified seven distinct mutations in the Calcium-Activated Nucleotidase 1 gene (CANT1), which encodes a soluble UDP-preferring nucleotidase belonging to the apyrase family. Among the seven mutations, four were nonsense mutations (Del 5′ UTR and exon 1, p.P245RfsX3, p.S303AfsX20, and p.W125X), and three were missense mutations (p.R300C, p.R300H, and p.P299L) responsible for the change of conserved amino acids located in the seventh nucleotidase conserved region (NRC). The arginine substitution at position 300 was identified in five out of nine families. The specific function of CANT1 is as yet unknown, but its substrates are involved in several major signaling functions, including Ca2+ release, through activation of pyrimidinergic signaling. Importantly, using RT-PCR analysis, we observed a specific expression in chondrocytes. We also found electron-dense material within distended rough endoplasmic reticulum in the fibroblasts of Desbuquois patients. Our findings demonstrate the specific involvement of a nucleotidase in the endochondral ossification process. PMID:19853239

  2. BGN Mutations in X-Linked Spondyloepimetaphyseal Dysplasia.

    Science.gov (United States)

    Cho, Sung Yoon; Bae, Jun-Seok; Kim, Nayoung K D; Forzano, Francesca; Girisha, Katta Mohan; Baldo, Chiara; Faravelli, Francesca; Cho, Tae-Joon; Kim, Dongsup; Lee, Kyoung Yeul; Ikegawa, Shiro; Shim, Jong Sup; Ko, Ah-Ra; Miyake, Noriko; Nishimura, Gen; Superti-Furga, Andrea; Spranger, Jürgen; Kim, Ok-Hwa; Park, Woong-Yang; Jin, Dong-Kyu

    2016-06-02

    Spondyloepimetaphyseal dysplasias (SEMDs) comprise a heterogeneous group of autosomal-dominant and autosomal-recessive disorders. An apparent X-linked recessive (XLR) form of SEMD in a single Italian family was previously reported. We have been able to restudy this family together with a second family from Korea by segregating a severe SEMD in an X-linked pattern. Exome sequencing showed missense mutations in BGN c.439A>G (p.Lys147Glu) in the Korean family and c.776G>T (p.Gly259Val) in the Italian family; the c.439A>G (p.Lys147Glu) mutation was also identified in a further simplex SEMD case from India. Biglycan is an extracellular matrix proteoglycan that can bind transforming growth factor beta (TGF-β) and thus regulate its free concentration. In 3-dimensional simulation, both altered residues localized to the concave arc of leucine-rich repeat domains of biglycan that interact with TGF-β. The observation of recurrent BGN mutations in XLR SEMD individuals from different ethnic backgrounds allows us to define "XLR SEMD, BGN type" as a nosologic entity.

  3. Psychoeducational Characteristics of Children with Hypohidrotic Ectodermal Dysplasia

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    Rolanda A. Maxim

    2012-01-01

    Full Text Available Objective. Hypohidrotic ectodermal dysplasia (HED is an X-linked hereditary disorder characterized by hypohidrosis, hypotrichosis, and anomalous dentition. Estimates of up to 50% of affected children having intellectual disability are controversial. Method. In a cross-sectional study, 45 youth with HED (77% males, mean age 9.75 years and 59 matched unaffected controls (70% males, mean age 9.79 years were administered the Kaufman Brief Intelligence Test and the Kaufman Test of Educational Achievement, and their parents completed standardized neurodevelopmental and behavioral measures, educational, and health-related information regarding their child, as well as standardized and nonstandardized data regarding socioeconomic information for their family. Results. There were no statistically significant differences between the two groups in intelligence quotient composite and educational achievement scores, suggesting absence of learning disability in either group. No gender differences within or between groups were found on any performance measures. Among affected youth, parental education level correlated positively with (1 cognitive vocabulary scores and cognitive composite scores; (2 educational achievement for mathematics, reading, and composite scores. Conclusion. Youth affected with HED and unaffected matched peers have similar profiles on standardized measures of cognition, educational achievement, and adaptive functioning although children with HED may be at increased risk for ADHD.

  4. Ayurvedic management of spondyloepiphyseal dysplasia tarda, a rare hereditary disorder

    Directory of Open Access Journals (Sweden)

    Sarvesh Kumar Singh

    2016-10-01

    Full Text Available Spondyloepiphyseal dysplasia tarda (SEDT is a rare genetic disease in which patient suffers from short stature, short trunk and neck with disproportionately long arms, coxa vara, skeletal features such as barrel shaped chest, kyphosis, scoliosis and early arthropathy. Only limited medical and surgical management is available in modern medicine. A 15 years old male suffering from SEDT and diagnosed as Vata vyadhi was treated with Panchakarma therapy and selected Ayurvedic oral medicines. Ayurvedic treatment was directed to ameliorate the orthopaedic clinical conditions in this case. Panchakarma procedures such as Shalishastika pinda svedana for a month and Mustadi yapana basti for 16 days were given along with oral Ayurvedic medicines. Same Panchakarma procedures were repeated after an interval of 2 months. A combination of Ayurvedic oral medicines such as Trayodashanga guggulu-500 mg twice a day, Dashmool kvatha (decoction of roots of 10 herbs 40 ml twice a day, Eranda paka 10 g twice a day, Shiva gutika-500 mg twice a day and Dashmoolarista-20 ml (with equal water twice a day were prescribed. Eight scales based Medical outcome study (MOS – 36 item short form – health surveys was assessed for outcome which shows good improvement. Kyphosis, scoliosis and pain were moderately reduced. Clinical experience of this case indicates that Ayurvedic herbs along with Panchakarma can play a major role in the management of hereditary disorder SEDT.

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

    Energy Technology Data Exchange (ETDEWEB)

    Lu, Hui; Zeng, Bing Hui; Yu, Dong Sheng; Jing, Xiang Yi; Hu, Bin; Zhao, Wei; Wang, Yi Ming [Sun Yat-Sen University, Guangzhou (China)

    2015-09-15

    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 supernumerary teeth, a cystic lesion, and previously unreported fused primary teeth were discovered on cone-beam computed tomography (CBCT) scans. Mutation analysis identified the causal c.578G>A (p.R193Q) mutation in the RUNX2 gene. At 20 years of age, the patient had already missed the optimal period for dental intervention. This report describes the complex dental anomalies in a belatedly diagnosed CCD patient, and emphasizes the significance of CBCT assessment for the detection of dental anomalies and the importance of early treatment to achieve good outcomes.

  6. Septo-optic dysplasia/de Morsier's syndrome

    Science.gov (United States)

    Reis, Pedro; Mourão, Joana

    2017-01-01

    Septo-optic dysplasia (SOD)/de Morsier's syndrome is characterized by optic nerve hypoplasia, pituitary endocrine dysfunction, and midline brain abnormalities. Hypopituitarism, hypothyroidism, hypogonadism, and adrenal insufficiency can lead to severe hypoglycemia, adrenal crisis, seizures, and sudden death. Anesthetic management of SOD was associated with high perioperative mortality. A 9-year-old male child proposed for dental treatments/extractions. Medical history of SOD with hypopituitarism, hypothyroidism, and delayed psychomotor development was observed. Anesthetic induction with sevoflurane and intravenous administration of hydrocortisone plus dexamethasone were given. An infusion of 5% glucose in sodium chloride 0.9% was started. Anesthesia with sevoflurane and air, combined with local infiltration with 2% lidocaine, was maintained. During the procedure, the patient was breathing spontaneously, hemodynamically stable, with normal glucose levels measured every 30 min. The patient received 750 mg of paracetamol for analgesia and was discharged from the hospital 24 h after the procedure without complications. The mortality related to general anesthesia in such patients put us some challenges. The procedure was imperative for improving the health and quality of life of the patient, so we opted for inhalational anesthesia combined with local infiltration. We think that combined anesthesia contributed to the abolition of pain and avoided adrenal suppression contributing for the success of the procedure. PMID:28217067

  7. Mesodermal Pten inactivation leads to alveolar capillary dysplasia- like phenotype.

    Science.gov (United States)

    Tiozzo, Caterina; Carraro, Gianni; Al Alam, Denise; Baptista, Sheryl; Danopoulos, Soula; Li, Aimin; Lavarreda-Pearce, Maria; Li, Changgong; De Langhe, Stijn; Chan, Belinda; Borok, Zea; Bellusci, Saverio; Minoo, Parviz

    2012-11-01

    Alveolar capillary dysplasia (ACD) is a congenital, lethal disorder of the pulmonary vasculature. Phosphatase and tensin homologue deleted from chromosome 10 (Pten) encodes a lipid phosphatase controlling key cellular functions, including stem/progenitor cell proliferation and differentiation; however, the role of PTEN in mesodermal lung cell lineage formation remains unexamined. To determine the role of mesodermal PTEN in the ontogeny of various mesenchymal cell lineages during lung development, we specifically deleted Pten in early embryonic lung mesenchyme in mice. Pups lacking Pten died at birth, with evidence of failure in blood oxygenation. Analysis at the cellular level showed defects in angioblast differentiation to endothelial cells and an accompanying accumulation of the angioblast cell population that was associated with disorganized capillary beds. We also found decreased expression of Forkhead box protein F1 (Foxf1), a gene associated with the ACD human phenotype. Analysis of human samples for ACD revealed a significant decrease in PTEN and increased activated protein kinase B (AKT). These studies demonstrate that mesodermal PTEN has a key role in controlling the amplification of angioblasts as well as their differentiation into endothelial cells, thereby directing the establishment of a functional gas exchange interface. Additionally, these mice could serve as a murine model of ACD.

  8. Mandibuloacral Dysplasia Caused by LMNA Mutations and Uniparental Disomy

    Directory of Open Access Journals (Sweden)

    Shaochun Bai

    2014-01-01

    Full Text Available Mandibuloacral dysplasia (MAD is a rare autosomal recessive disorder characterized by postnatal growth retardation, craniofacial anomalies, skeletal malformations, and mottled cutaneous pigmentation. Hutchinson-Gilford Progeria Syndrome (HGPS is characterized by the clinical features of accelerated aging in childhood. Both MAD and HGPS can be caused by mutations in the LMNA gene. In this study, we describe a 2-year-old boy with overlapping features of MAD and HGPS. Mutation analysis of the LMNA gene revealed a homozygous missense change, p.M540T, while only the mother carries the mutation. Uniparental disomy (UPD analysis for chromosome 1 showed the presence of maternal UPD. Markers in the 1q21.3–q22 region flanking the LMNA locus were isodisomic, while markers in the short arm and distal 1q region were heterodisomic. These results suggest that nondisjunction in maternal meiosis followed by loss of the paternal chromosome 1 during trisomy rescue might result in the UPD1 and homozygosity for the p.M540T mutation observed in this patient.

  9. Dental implants for severely atrophied jaws due to ectodermal dysplasia

    Directory of Open Access Journals (Sweden)

    Preetha Balaji

    2015-01-01

    Full Text Available The aim was to present the successful esthetical and functional rehabilitation of partial anodontia in a case of severe ectodermal dysplasia with complete atrophy of the jaws. A 17-year-old male with Class III malocclusion with partial anodontia sought dental implant treatment. His expectation was that of Class I occlusion. The challenge in the case was to match the expectation, reality, and the clinical possibilities. Ridge augmentation was performed with a combination of rib graft and recombinant human bone morphogenetic protein-2. Simultaneously, 6 implants (Nobel Biocare™ - Tapered Groovy were placed in maxillary arch and 10 in the mandible. Simultaneous placement ensured faster and better osseointegration though a mild compromise of the primary stability was observed initially. After adequate healing, Customized Zirconia Procera™ system was used to build the framework. Zirconia crown was cemented to the framework. Radiological and clinical evidence of osseointegration was observed in all 16 dental implants. Successful conversion of Class III to Class I occlusion was achieved with the combination of preprosthetic alveolar ridge augmentation, Procera™ Implant Bridge system. Abnormal angulations and or placement of dental implants would result in failure of the implant. Hence conversion of Class III to Class I occlusion needs complete and complex treatment planning so that the entire masticatory apparatus is sufficiently remodeled. Planning should consider the resultant vectors that would otherwise result in failure of framework or compromise the secondary stability of the dental implant during function. A successful case of rehabilitation of complex partial anodontia is presented.

  10. Orbital reconstruction for pulsatile exophthalmos secondary to sphenoid wing dysplasia.

    Science.gov (United States)

    Dale, Elizabeth L; Strait, Timothy A; Sargent, Larry A

    2014-01-01

    Sphenoid wing dysplasia or absence of the greater sphenoid wing is a rare condition that is considered pathopneumonic for neurofibromatosis type 1 (NF1). It occurs in 4% to 11% of NF1 patients, and its precise cause is unclear. Some cases appear to be congenital, while others have demonstrated it to be a progressive degeneration of the orbital wall. In about half of cases, associated adjacent neurofibromas are described. Consistently, however, the clinical sequelae is herniation of the temporal lobe into the orbit, causing progressive proptosis and pulsatile exophthalmos. Reconstruction of the orbit has traditionally been with bone grafts, but due to problems with bone resorption and recurrence, titanium plates in conjunction with bone grafts have been reported. We present a case of a 6-year-old male patient who was first diagnosed with NF1 and associated absence of the greater sphenoid wing at the age of 2. Four years later, he was referred for reconstruction after the development of pulsatile exophthalmos. Surgical management included dissection of the dura of the temporal lobe off of the periorbita and skull base reconstruction with a combination of radial-shaped titanium mesh and split calvarial bone grafts. Postoperatively, there was near immediate resolution of the pulsatile exophthalmos, and follow-up at 1 year showed no recurrence.

  11. Prenatal diagnosis of fetal skeletal dysplasia with 3D CT

    Energy Technology Data Exchange (ETDEWEB)

    Miyazaki, Osamu; Horiuchi, Tetsuya [National Center for Child Health and Development, Department of Radiology, Seatagaya-ku, Tokyo (Japan); Nishimura, Gen [Tokyo Metropolitan Children' s Medical Center, Department of Pediatric Imaging, Fuchu-shi, Tokyo (Japan); Sago, Haruhiko; Hayashi, Satoshi [National Center for Child Health and Development, Department of Perinatal Medicine and Maternal Care, Seatagaya-ku, Tokyo (Japan); Kosaki, Rika [National Center for Child Health and Development, Department of Strategic Medicine, Division of Clinical Genetics and Molecular Medicine, Seatagaya-ku, Tokyo (Japan)

    2012-07-15

    Clinical use of 3D CT for fetal skeletal malformations is controversial. The purpose of this study was to evaluate the efficacy of fetal 3D CT using three protocols with different radiation doses and through comparing findings between fetal CT and conventional postnatal radiographic skeletal survey. Seventeen fetuses underwent CT for suspected skeletal dysplasia. A relay of three CT protocols with stepwise dose-reduction were used over the study period. The concordance between the CT diagnosis and the final diagnosis was assessed. Ninety-three radiological findings identifiable on radiographs were compared with CT. Fetal CT provided the correct diagnosis in all 17 fetuses, the detectability rate of cardinal findings was 93.5 %. In 59 % of the fetuses an US-based diagnosis was changed prenatally due to CT findings. The estimated fetal radiation dose in the final protocol was 3.4 mSv (50 %) of the initial protocol, and this dose reduction did not result in degraded image quality. The capability of fetal CT to delineate the skeleton was almost the same as that of postnatal skeletal survey. The perinatal management was altered due to these more specific CT findings, which aided in counseling and in the management of the pregnancy. (orig.)

  12. Late presentation of developmental dysplasia of the hip.

    LENUS (Irish Health Repository)

    Gul, R

    2012-02-03

    BACKGROUND: A neonatal screening programme for developmental dysplasia of the hip (DDH) is ongoing in Cork. Despite early screening, infants continue to present at later ages with DDH. The impact of late diagnosis is significant. Established DDH causes significant morbidity and may have major medicolegal implications. AIM: To identify the reasons for the late presentation of DDH in the presence of a screening programme. METHODS: In a retrospective study all cases of late DDH presenting from 1988 to 2000 were identified using inpatient database. RESULTS: Forty-nine cases of DDH were diagnosed. The mean age of diagnosis was 14.8 months (range 6-47). Multiple risk factors were identified in four patients only. More than one risk factor was identified in 10 patients. CONCLUSION: Despite screening, children continue to present with late DDH. In this study, only 14 patients had multiple risk factors and only four patients had more than two risk factors, highlighting the low incidence of suspicion in this patient group.

  13. Expression of Bcl-2 and Bax in extrahepatic biliary tract carcinoma and dysplasia

    Institute of Scientific and Technical Information of China (English)

    Sheng-Mian Li; Shu-Kun Yao; Nobuyoshi Yamamura; Toshitsugu Nakamura

    2003-01-01

    AIM: To compare the difference of expression of Bcl-2 and Bax in extrahepatic biliary tract carcinoma and dysplasia, and to analyze the role of Bcl-2 and Bax proteins in the progression from dysplasia to carcinoma and to evaluate the correlation of Bcl-2/Bax protein expression with the biological behaviors.METHODS: Expressions of Bcl-2 and Bax were examined immunohistochemically in 27 cases of extrahepatic biliary tract carcinomas (bile duct carcinoma: n=21, carcinoma of ampulla of Vater: n=6), and 10 cases of atypical dysplasia.Five cases of normal biliary epithelial tissues were used as controls. A semiquantitative scoring system was used to assess the Bcl-2 and Bax reactivity.RESULTS: The expression of Bd-2 was observed in 10 out of 27 (37.0 %) invasive carcinomas, 1 out of 10 clysplasias, none out of 5 normal epithelial tissues. Bax expression rate was 74.1% (20/27) in invasive carcinoma, 30 % (3/10) in dysplasia,and 40 % (2/5) in normal biliary epithelium. Bcl-2 and Bax activities were more intense in carcinoma than in dysplasia,with no significant difference in Bcl-2 expression (P=0.1:10),and significant difference in Bax expression (P=0.038). Level of Bax expression was higher in invasive carcinoma than in dysplasia and normal tissue (P=0.012). Bcl-2 expression was correlated to Bax expression (P=0.0059). However, Bcl-2/Bax expression had no correlation with histological subtype,grade of differentiation, or level of invasion.CONCLUSION: Increased Bcl-2/Bax expression from dysplasia to invasive tumors supports the view that this is the usual route for the development of extrahepatic biliary tract carcinoma. Bcl-2/Bax may be involved, at least in part,in the apoptotic activity in extrahepatic biliary carcinoma.

  14. Non-Invasive Prenatal Diagnosis of Lethal Skeletal Dysplasia by Targeted Capture Sequencing of Maternal Plasma.

    Directory of Open Access Journals (Sweden)

    Shan Dan

    Full Text Available Since the discovery of cell-free foetal DNA in the plasma of pregnant women, many non-invasive prenatal testing assays have been developed. In the area of skeletal dysplasia diagnosis, some PCR-based non-invasive prenatal testing assays have been developed to facilitate the ultrasound diagnosis of skeletal dysplasias that are caused by de novo mutations. However, skeletal dysplasias are a group of heterogeneous genetic diseases, the PCR-based method is hard to detect multiple gene or loci simultaneously, and the diagnosis rate is highly dependent on the accuracy of the ultrasound diagnosis. In this study, we investigated the feasibility of using targeted capture sequencing to detect foetal de novo pathogenic mutations responsible for skeletal dysplasia.Three families whose foetuses were affected by skeletal dysplasia and two control families whose foetuses were affected by other single gene diseases were included in this study. Sixteen genes related to some common lethal skeletal dysplasias were selected for analysis, and probes were designed to capture the coding regions of these genes. Targeted capture sequencing was performed on the maternal plasma DNA, the maternal genomic DNA, and the paternal genomic DNA. The de novo pathogenic variants in the plasma DNA data were identified using a bioinformatical process developed for low frequency mutation detection and a strict variant interpretation strategy. The causal variants could be specifically identified in the plasma, and the results were identical to those obtained by sequencing amniotic fluid samples. Furthermore, a mean of 97% foetal specific alleles, which are alleles that are not shared by maternal genomic DNA and amniotic fluid DNA, were identified successfully in plasma samples.Our study shows that capture sequencing of maternal plasma DNA can be used to non-invasive detection of de novo pathogenic variants. This method has the potential to be used to facilitate the prenatal diagnosis

  15. Diagnosis of dysplasia in upper gastro-intestinal tract biopsies through digital microscopy

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    Dorina Gui

    2012-01-01

    Full Text Available Background: Whole slide digital imaging (WSDI offers an alternative to glass slides for diagnostic interpretation. While prior work has concentrated on the use of whole slide digital imaging for routine diagnostic cases, this study focuses on diagnostic interpretation of digital images for a highly challenging area, upper gastro-intestinal (GI dysplasia. The aim of this study is to study the accuracy and efficiency of WSDI in the diagnosis of upper GI tract dysplasia. Materials and Methods: Forty-two hematoxylin and eosin (H and E-stained slides representing negative, indefinite, low grade and high grade dysplasia were selected and scanned at 20x (Aperio XT. Four attending GI pathologists reviewed the WSDI, then glass slides, with at least 3-4 weeks between each media; glass slides were re-reviewed 16-18 months later. Results: Intraobserver variability for three clinically relevant categories (negative, indefinite/low grade, high grade was wider for WSDI to glass (kappa range 0.36-0.78 than glass to glass (kappa range 0.58-0.75. In comparison to glass slide review, WSDI review required more time and was associated with an unexpected trend toward downgrading dysplasia. Conclusions: Our results suggest: (1 upper GI dysplasia can be diagnosed using WSDI with similar intraobserver reproducibility as for glass slides; however, this is not true for all pathologists; (2 pathologists may have a tendency to downgrade dysplasia in digital images; and (3 pathologists who use WSDI for interpretation of GI dysplasia cases may benefit from regular, on-going, re-review of paired digital and glass images to ensure the most accurate utilization of digital technology, at least in the early stages of implementation.

  16. Use of an endoscope-compatible probe to detect colonic dysplasia with Fourier transform infrared spectroscopy

    Science.gov (United States)

    Mackanos, Mark A.; Hargrove, John; Wolters, Rolf; Du, Christine B.; Friedland, Shai; Soetikno, Roy M.; Contag, Christopher H.; Arroyo, May R.; Crawford, James M.; Wang, Thomas D.

    2009-07-01

    Fourier transform infrared (FTIR) spectroscopy is sensitive to the molecular composition of tissue and has the potential to identify premalignant tissue (dysplasia) as an adjunct to endoscopy. We demonstrate collection of mid-infrared absorption spectra with a silver halide (AgCl0.4Br0.6) optical fiber and use spectral preprocessing to identify optimal subranges that classify colonic mucosa as normal, hyperplasia, or dysplasia. We collected spectra (n=83) in the 950 to 1800 cm-1 regime on biopsy specimens obtained from human subjects (n=37). Subtle differences in the magnitude of the absorbance peaks at specific wave numbers were observed. The best double binary algorithm for distinguishing normal-versus-dysplasia and hyperplasia-versus-dysplasia was determined from an exhaustive search of spectral intervals and preprocessing techniques. Partial least squares discriminant analysis was used to classify the spectra using a leave-one-subject-out cross-validation strategy. The results were compared with histology reviewed independently by two gastrointestinal pathologists. The optimal thresholds identified resulted in an overall sensitivity, specificity, accuracy, and positive predictive value of 96%, 92%, 93%, and 82%, respectively. These results indicated that mid-infrared absorption spectra collected remotely with an optical fiber can be used to identify colonic dysplasia with high accuracy, suggesting that continued development of this technique for the early detection of cancer is promising.

  17. Central ossifying fibroma, periapical cemento-osseous dysplasia and complex odontoma occurring in the same jaw

    Directory of Open Access Journals (Sweden)

    Farzaneh Agha Hosseini

    2011-05-01

    Full Text Available Central ossifying fibroma is a rare, benign fibro-osseous lesion that arises from the periodontal ligament. Periapical cemento-osseous dysplasia is another variant of fibro-osseous lesion which occurs in the anterior region of the mandible of females. Odontoma is a benign odontogenic tumor that contains enamel, dentine cement and pulp tissue. A 46-year-old woman was referred to the Department of Oral Medicine, School of Dentistry, Tehran University of Medical Sciences, with two nonpainful swellings on both sides of the mandible, which had been slowly growing over a period of one year. Our differential diagnosis was florid cemento-osseous dysplasia, focal cemento-osseous dysplasia for the right side, complex odontoma for the left side and periapical cement-osseous dysplasia for the anterior side. The historical feature revealed ossifying fibroma, complex odontoma and periapical cemento-osseous dysplasia. The occurrence of these three lesions in the same jaw has been rarely reported in the literature. The relationship between the occurrence of these three lesions is not obvious it could be coincidental. It seems that more case reports are needed to establish the relationship between them.

  18. Analysis of Altered Micro RNA Expression Profiles in Focal Cortical Dysplasia IIB.

    Science.gov (United States)

    Li, Lin; Liu, Chang-Qing; Li, Tian-Fu; Guan, Yu-Guang; Zhou, Jian; Qi, Xue-Ling; Yang, Yu-Tao; Deng, Jia-Hui; Xu, Zhi-Qing David; Luan, Guo-Ming

    2016-04-01

    Focal cortical dysplasia type IIB is a commonly encountered subtype of developmental malformation of the cerebral cortex and is often associated with pharmacoresistant epilepsy. In this study, to investigate the molecular etiology of focal cortical dysplasia type IIB, the authors performed micro ribonucleic acid (RNA) microarray on surgical specimens from 5 children (2 female and 3 male, mean age was 73.4 months, range 50-112 months) diagnosed of focal cortical dysplasia type IIB and matched normal tissue adjacent to the lesion. In all, 24 micro RNAs were differentially expressed in focal cortical dysplasia type IIB, and the microarray results were validated using quantitative real-time polymerase chain reaction (PCR). Then the putative target genes of the differentially expressed micro RNAs were identified by bioinformatics analysis. Moreover, biological significance of the target genes was evaluated by investigating the pathways in which the genes were enriched, and the Hippo signaling pathway was proposed to be highly related with the pathogenesis of focal cortical dysplasia type IIB.

  19. Thickness of Actinic Keratosis Does Not Predict Dysplasia Severity or P53 Expression.

    Science.gov (United States)

    Heerfordt, Ida M; Nissen, Christoffer V; Poulsen, Thomas; Philipsen, Peter A; Wulf, Hans Christian

    2016-09-27

    The severity of dysplasia and expression of p53 in actinic keratosis (AK) is of importance for the transformation to squamous cell carcinoma. It is assumed that it is most important to treat thick AKs as they are believed to be more dysplastic than thin AKs. However, a relation between AK thickness and dysplasia or the expression of p53 has never been demonstrated. The aim of this study was to investigate this possible relation. Sixty-six AKs were included for clinical and histological examination. Prior to performing a punch biopsy, the clinical thickness of each AK was measured objectively using two scale bars with a thickness of 0.5 mm and 1 mm. Subsequently, the thickness of the epidermis, the severity of dysplasia and the expression of p53 were assessed histologically. We found a strong and significant positive correlation between measured clinical thickness of the AKs and the histological thickness of epidermis (p < 0.0001). However, the clinical thickness did not correlate with either the severity of dysplasia (p = 0.7) or the expression of p53 (p = 0.5). In conclusion, thin AKs show the same severity of dysplasia and expression of p53 as thicker AK lesions. Consequently, clinical thickness cannot predict aggressiveness.

  20. Genomic prediction of traits related to canine hip dysplasia

    Directory of Open Access Journals (Sweden)

    Enrique eSanchez-Molano

    2015-03-01

    Full Text Available Increased concern for the welfare of pedigree dogs has led to development of selection programs against inherited diseases. An example is canine hip dysplasia (CHD, which has a moderate heritability and a high prevalence in some large-sized breeds. To date, selection using phenotypes has led to only modest improvement, and alternative strategies such as genomic selection may prove more effective. The primary aims of this study were to compare the performance of pedigree- and genomic-based breeding against CHD in the UK Labrador retriever population and to evaluate the performance of different genomic selection methods. A sample of 1179 Labrador Retrievers evaluated for CHD according to the UK scoring method (hip score, HS was genotyped with the Illumina CanineHD BeadChip. Twelve functions of HS and its component traits were analyzed using different statistical methods (GBLUP, Bayes C and Single-Step methods, and results were compared with a pedigree-based approach (BLUP using cross-validation. Genomic methods resulted in similar or higher accuracies than pedigree-based methods with training sets of 944 individuals for all but the untransformed HS, suggesting that genomic selection is an effective strategy. GBLUP and Bayes C gave similar prediction accuracies for HS and related traits, indicating a polygenic architecture. This conclusion was also supported by the low accuracies obtained in additional GBLUP analyses performed using only the SNPs with highest test statistics, also indicating that marker-assisted selection would not be as effective as genomic selection. A Single-Step method that combines genomic and pedigree information also showed higher accuracy than GBLUP and Bayes C for the log-transformed HS, which is currently used for pedigree based evaluations in UK. In conclusion, genomic selection is a promising alternative to pedigree-based selection against CHD, requiring more phenotypes with genomic data to improve further the accuracy

  1. Focal cortical dysplasia: long term seizure outcome after surgical treatment

    Science.gov (United States)

    Kral, T; von Lehe, M; Podlogar, M; Clusmann, H; Süßmann, P; Kurthen, M; Becker, A; Urbach, H; Schramm, J

    2007-01-01

    Background Studies of long term outcome after epilepsy surgery for cortical malformations are rare. In this study, we report our experience with surgical treatment and year to year long term outcome for a subgroup of patients with focal cortical dysplasia (FCD). Methods We retrospectively analysed the records of 49 patients (females n = 26; males n = 23; mean age 25 (11) years) with a mean duration of epilepsy of 18 years (range 1–45). Preoperative MRI, histological results based on the Palmini classification and clinical year to year follow‐up according to the International League Against Epilepsy (ILAE) classification were available in all patients. Results 98% of patients had a lesion on preoperative MRI. In addition to lobectomy (n = 9) or lesionectomy (n = 40), 14 patients had multiple subpial transections of the eloquent cortex. The resected tissue was classified as FCD type II b in 41 cases with an extratemporal (88%) and FCD type II a in 8 cases with a temporal localisation (100%). After a mean follow‐up of 8.1 (4.5) years, 37 patients (76%) were seizure free, a subgroup of 23 patients (47%) had been completely seizure free since surgery (ILAE class 1a) and 4 patients (8%) had only auras (ILAE class 2). Over a 10 year follow‐up, the proportion of satisfactory outcomes decreased, mainly within the first 3 years. During long term follow‐up, 48% stopped antiepileptic drug treatment, 34% received a driver's license and 57% found a job or training. Conclusion Surgical treatment of epilepsy with FCD is not only successful in the short term but also has a satisfying long term outcome which remains constant after 3 years of follow‐up but is not associated with better employment status or improvement in daily living. PMID:17287239

  2. Pathogenetics of alveolar capillary dysplasia with misalignment of pulmonary veins.

    Science.gov (United States)

    Szafranski, Przemyslaw; Gambin, Tomasz; Dharmadhikari, Avinash V; Akdemir, Kadir Caner; Jhangiani, Shalini N; Schuette, Jennifer; Godiwala, Nihal; Yatsenko, Svetlana A; Sebastian, Jessica; Madan-Khetarpal, Suneeta; Surti, Urvashi; Abellar, Rosanna G; Bateman, David A; Wilson, Ashley L; Markham, Melinda H; Slamon, Jill; Santos-Simarro, Fernando; Palomares, María; Nevado, Julián; Lapunzina, Pablo; Chung, Brian Hon-Yin; Wong, Wai-Lap; Chu, Yoyo Wing Yiu; Mok, Gary Tsz Kin; Kerem, Eitan; Reiter, Joel; Ambalavanan, Namasivayam; Anderson, Scott A; Kelly, David R; Shieh, Joseph; Rosenthal, Taryn C; Scheible, Kristin; Steiner, Laurie; Iqbal, M Anwar; McKinnon, Margaret L; Hamilton, Sara Jane; Schlade-Bartusiak, Kamilla; English, Dawn; Hendson, Glenda; Roeder, Elizabeth R; DeNapoli, Thomas S; Littlejohn, Rebecca Okashah; Wolff, Daynna J; Wagner, Carol L; Yeung, Alison; Francis, David; Fiorino, Elizabeth K; Edelman, Morris; Fox, Joyce; Hayes, Denise A; Janssens, Sandra; De Baere, Elfride; Menten, Björn; Loccufier, Anne; Vanwalleghem, Lieve; Moerman, Philippe; Sznajer, Yves; Lay, Amy S; Kussmann, Jennifer L; Chawla, Jasneek; Payton, Diane J; Phillips, Gael E; Brosens, Erwin; Tibboel, Dick; de Klein, Annelies; Maystadt, Isabelle; Fisher, Richard; Sebire, Neil; Male, Alison; Chopra, Maya; Pinner, Jason; Malcolm, Girvan; Peters, Gregory; Arbuckle, Susan; Lees, Melissa; Mead, Zoe; Quarrell, Oliver; Sayers, Richard; Owens, Martina; Shaw-Smith, Charles; Lioy, Janet; McKay, Eileen; de Leeuw, Nicole; Feenstra, Ilse; Spruijt, Liesbeth; Elmslie, Frances; Thiruchelvam, Timothy; Bacino, Carlos A; Langston, Claire; Lupski, James R; Sen, Partha; Popek, Edwina; Stankiewicz, Paweł

    2016-05-01

    Alveolar capillary dysplasia with misalignment of pulmonary veins (ACDMPV) is a lethal lung developmental disorder caused by heterozygous point mutations or genomic deletion copy-number variants (CNVs) of FOXF1 or its upstream enhancer involving fetal lung-expressed long noncoding RNA genes LINC01081 and LINC01082. Using custom-designed array comparative genomic hybridization, Sanger sequencing, whole exome sequencing (WES), and bioinformatic analyses, we studied 22 new unrelated families (20 postnatal and two prenatal) with clinically diagnosed ACDMPV. We describe novel deletion CNVs at the FOXF1 locus in 13 unrelated ACDMPV patients. Together with the previously reported cases, all 31 genomic deletions in 16q24.1, pathogenic for ACDMPV, for which parental origin was determined, arose de novo with 30 of them occurring on the maternally inherited chromosome 16, strongly implicating genomic imprinting of the FOXF1 locus in human lungs. Surprisingly, we have also identified four ACDMPV families with the pathogenic variants in the FOXF1 locus that arose on paternal chromosome 16. Interestingly, a combination of the severe cardiac defects, including hypoplastic left heart, and single umbilical artery were observed only in children with deletion CNVs involving FOXF1 and its upstream enhancer. Our data demonstrate that genomic imprinting at 16q24.1 plays an important role in variable ACDMPV manifestation likely through long-range regulation of FOXF1 expression, and may be also responsible for key phenotypic features of maternal uniparental disomy 16. Moreover, in one family, WES revealed a de novo missense variant in ESRP1, potentially implicating FGF signaling in the etiology of ACDMPV.

  3. Aspergilosis broncopulmonar alérgica. Complicaciones poco usuales de la afección ALLERGIC BRONCHOPULMONARY ASPERGILLOSIS. UNUSUAL COMPLICATIONS

    Directory of Open Access Journals (Sweden)

    EDGARDO CARRASCO C.

    2004-01-01

    Full Text Available Se revisa definición, etiología, etapas clínicas, tratamiento y complicaciones de la Aspergilosis Broncopulmonar Alérgica (ABPA. En el Instituto Nacional del Tórax se han seguido 35 casos de ABPA durante un promedio de 15 años. De esta serie se presentan dos pacientes de sexo femenino que corresponden a ABPA complicada por infección por Mycobacterium avium-intracellulare (MAI. Las pacientes que tenían 71 y 72 años de edad respectivamente, presentaron una infección pulmonar por MAI, 3 y diez años después de habérseles diagnosticado ABPA. El diagnóstico de ABPA se basó en sus características clínicas, radiológicas y en sus pruebas inmunológicas (prueba cutánea y Elisa IgG + para A. fumigatus. En ambos casos la infección pulmonar por MAI -confirmada por dos cultivos positivos- estuvo asociada a agravación clínica y radiológica. Las pacientes fueron tratadas exitosamente con claritromicina y etambutol durante 12 meses; este tratamiento estuvo asociado a estreptomicina y minociclina durante los primeros dos meses. La infección por MAI es una complicación poco frecuente de la ABPA. Esta asociación se debe sospechar si una TAC de alta resolución muestra nódulos asociados a bronquiectasias difusas ubicadas más allá de las bronquiectasias centrales (lesiones típicas de la ABPA no complicada. La infección pulmonar por MAI debe ser confirmada a través de cultivos de MAI en expectoración o en el líquido de lavado broncoalveolarDefinition, etiology, clinical stages, treatment and complications of Allergic Bronchopulmonary Aspergillosis (ABPA are reviewed. Thirty five cases of ABPA have been followed during an average of 15 years at Instituto Nacional del Tórax-Chile. From this series two female patients, corresponding to ABPA complicated by Mycobacterium avium-intracellulare (MAI infection are presented. The patients that were 71 and 72 years old respectively, presented a MAI pulmonary infection 3 and ten years after

  4. Allergic Bronchopulmonary Aspergillosis (ABPA)

    Science.gov (United States)

    ... Education Center Fellows-in-Training Grants & Awards Program Directors Practice Resources ASTHMA IQ Consultation and Referral Guidelines Practice Financial Survey Practice Tools Running a Practice Statements and Practice Parameters About AAAAI Advocacy Allergist / Immunologists: ...

  5. Intrauterine exposure to fine particulate matter as a risk factor for increased susceptibility to acute broncho-pulmonary infections in early childhood.

    Science.gov (United States)

    Jedrychowski, Wiesław A; Perera, Frederica P; Spengler, John D; Mroz, Elzbieta; Stigter, Laura; Flak, Elżbieta; Majewska, Renata; Klimaszewska-Rembiasz, Maria; Jacek, Ryszard

    2013-07-01

    Over the last decades many epidemiologic studies considered the morbidity patterns for respiratory diseases and lung function of children in the context of ambient air pollution usually measured in the postnatal period. The main purpose of this study is to assess the impact of prenatal exposure to fine particulate matter (PM2.5) on the recurrent broncho-pulmonary infections in early childhood. The study included 214 children who had measurements of personal prenatal PM2.5 exposure and regularly collected data on the occurrence of acute bronchitis and pneumonia diagnosed by a physician from birth over the seven-year follow-up. The effect of prenatal exposure to PM2.5 was adjusted in the multivariable logistic models for potential confounders, such as prenatal and postnatal ETS (environmental tobacco smoke), city residence area as a proxy of postnatal urban exposure, children's sensitization to domestic aeroallergens, and asthma. In the subgroup of children with available PM2.5 indoor levels, the effect of prenatal exposure was additionally adjusted for indoor exposure as well. The adjusted odds ratio (OR) for incidence of recurrent broncho-pulmonary infections (five or more spells of bronchitis and/or pneumonia) recorded in the follow-up significantly correlated in a dose-response manner with the prenatal PM2.5 level (OR=2.44, 95%CI: 1.12-5.36). In conclusion, the study suggests that prenatal exposure to PM2.5 increases susceptibility to respiratory infections and may program respiratory morbidity in early childhood. The study also provides evidence that the target value of 20μg/m(3) for the 24-h mean level of PM2.5 protects unborn babies better than earlier established EPA guidelines.

  6. A distinct subtype of ``metatropic dysplasia variant`` characterised by advanced carpal skeletal age and subluxation of the radial heads

    Energy Technology Data Exchange (ETDEWEB)

    Nishimura, G. [Department of Radiology, Dokkyo University School of Medicine, 880 Kitakobayashi, Mibu Shimotsuga-gun, Tochigi-ken 321-02 (Japan); Satoh, Masato [Department of Orthopedics, Saitama Children`s Medical Center, Saitama (Japan); Aihara, Toshinori [Department of Radiology, Saitama Children`s Medical Center, Saitama (Japan); Aida, Noriko [Department of Radiology, Kanagawa Children`s Medical Center, Yokohama (Japan); Yamamoto, Takehisa [Department of Pediatrics, Osaka University School of Medicine, Osaka (Japan); Ozono, Keiichi [Department of Environmental Medicine, Osaka Medical Center and Institute for Maternal and Child Health, Osaka (Japan)

    1998-02-01

    Background. ``Metatropic dysplasia variants`` are a group of bone dysplasias whose skeletal abnormalities are similar to, but milder than, those of classical metatropic dysplasia. The genetic and phenotypic heterogeneity has not been thoroughly elucidated. Objective. The objective was to designate a distinct subtype of these metatropic dysplasia variants. Materials and methods. The subjects were four Japanese patients, two sporadic cases and two siblings, who all had identical skeletal changes. The radiological features in these patients were compared with those of previously reported metatropic dysplasia variants. Results. Moderate platyspondyly with pear-shaped and/or anterior-tongued vertebral bodies, halberd pelvis, and dumbbell deformity of the tubular bones were regarded as hallmarks of metatropic dysplasia variants. The peculiar skeletal change in our patients was advanced carpal skeletal age in childhood, unlike most patients reported as metatropic dysplasia variants who manifest delayed carpal ossification. Another hallmark was congenital dislocation of the radial heads. A description of a patient with similar skeletal changes was found in the literature. Conclusion. These patients are considered to represent a distinct subgroup of metatropic dysplasia variants. It remains unknown whether the present siblings represent an autosomal recessive trait or an autosomal dominant trait with germinal mosaicism related to increased paternal age. (orig.) With 3 figs., 10 refs.

  7. Homozygous mutations in IHH cause acrocapitofemoral dysplasia, an autosomal recessive disorder with cone- shaped epiphyses in hands and hips

    NARCIS (Netherlands)

    Hellemans, J; Coucke, PJ; Giedion, A; De Paepe, A; Kramer, P; Beemer, F; Mortier, GR

    2003-01-01

    Acrocapitofemoral dysplasia is a recently delineated autosomal recessive skeletal dysplasia, characterized clinically by short stature with short limbs and radiographically by cone-shaped epiphyses, mainly in hands and hips. Genome-wide homozygosity mapping in two consanguineous families linked the

  8. Suprabasal expression of Ki-67 as a marker for the severity of oral epithelial dysplasia and oral squamous cell carcinoma

    Directory of Open Access Journals (Sweden)

    Nidhi Dwivedi

    2013-01-01

    Full Text Available 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 five cases of normal buccal mucosa were immunohistochemically examined and nuclear expression of Ki-67 was counted according to basal, parabasal, and suprabasal layers in epithelial dysplasia and number of positive cells per 100 cells in OSCC as labeling index (LI. Results: Suprabasal expression of Ki-67 increased according to the severity of epithelial dysplasia and the difference was statistically significant ( P < 0.001. The mean Ki-67LI was 12.78 for low risk lesions, 28.68 for high risk lesions, 39.45 for OSCC and 13.6 for normal buccal mucosa. Conclusion: The results of the present study demonstrate the use of proliferative marker Ki-67 in assessing the severity of epithelial dysplasia. Suprabasal expression of Ki-67 provides an objective criteria for determining the severity of epithelial dysplasia and histological grading of OSCC.

  9. FEATURES OF CLINICAL COURSE OF GASTROESOPHAGEAL REFLUX DISEASE IN NEWLY RECRUITED WITH CONNECTIVE TISSUE UNDIFFERENTIATED DYSPLASIA SYNDROME

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    E.I. Kashkina

    2008-12-01

    Full Text Available The presence of connective tissue undifferentiated dysplasia syndrome against a background of psychological stress at newly recruited can promote the risk of gastroesophageal reflux disease occurrence. To the utmost, correlation between the gastroesophageal reflux disease and such manifestations of connective tissue undifferentiated dysplasia syndrome as asthenic constitution, chest deformation, Gothic palate and hypermobility of joints was found

  10. Changing Paradigms in Detection of Dysplasia and Management of Patients With Inflammatory Bowel Disease: Is Colectomy Still Necessary?

    Science.gov (United States)

    Velayos, Fernando; Kathpalia, Priya; Finlayson, Emily

    2017-02-01

    This review chronicles the evolution of dysplasia detection and management in inflammatory bowel disease since 1925, the year the first case report of colitis-related colorectal cancer was published. We conclude that colorectal cancer prevention and dysplasia management for patients with inflammatory bowel disease has changed since this first case report, from somewhat hopeless to hopeful.

  11. GLUT-1 immunoexpression in oral epithelial dysplasia, oral squamous cell carcinoma, and verrucous carcinoma.

    Science.gov (United States)

    Angadi, Vidya C; Angadi, Punnya V

    2015-06-01

    Glucose transporters, such as GLUT-1, mediate the important mechanisms involved in cellular glucose influx, allowing cells to proliferate and survive. The significance of GLUT-1 expression in oral epithelial dysplasia (OED) and oral squamous cell carcinoma (OSCC) has been less explored, and no study has investigated it in relation to verrucous carcinoma (VC). We evaluated 30 cases each of OED, OSCC, and VC, graded further on the basis of their differentiation, immunohistochemically for GLUT-1 expression, along with 10 specimens of normal oral mucosa (NOM) as controls. In OSCC, GLUT-1 expression increased with the degree of dysplasia and increasing grade (P GLUT-1 expression in OSCC along with the degree of dysplasia and the histologic grade reflects the expanding glycolytic response to hypoxia. This is the first study to have revealed prominent GLUT-1 expression in VC, highlighting its inherent metabolic capacity.

  12. Risk of vocal chord dysplasia in relation to smoking, alcohol intake and occupation.

    Science.gov (United States)

    Grasl, M C; Neuwirth-Riedl, K; Vutuc, C; Horak, F; Vorbeck, F; Banyai, M

    1990-03-01

    The significance of tobacco smoking, alcohol consumption and occupation as risk factors for the development of vocal chord dysplasia was evaluated in a case-control study. Twenty-seven male patients with dysplasia of the vocal chords were chosen from the I. ENT-University Clinic in Vienna (1985-1988) and compared with 54 controls. The main results are: The relative risk (RR) of a smoker compared to that of a non-smoker for vocal chord dysplasia is 7.27 (6.81-7.73); the RR adjusted for occupation is 3.58 (2.31-4.84). The most important risk factor, however, is occupational exposure. The relative risk of a blue collar worker compared to that of a white collar worker is 11.04 (10.61-11.46), which is reduced only to 10.02 (10.61-11.46) after stratification according to smoking habits.

  13. [Hair dysplasia in oculo-dento-digital syndrome. Apropos of a mother-daughter case].

    Science.gov (United States)

    Adamski, H; Chevrant-Breton, J; Odent, S; Patoux-Pibouin, M; Le Marec, B; Laudren, A; Urvoy, M

    1994-01-01

    Oculo-dento-digital syndrome (SODD) as defined by Meyer-Schwickerath in 1957 is a rare entity (84 cases) which belongs to ectodermal dysplasias. It consists of: the characteristic features (long face, pinched nose); syndactyly; ocular, dental and bone abnormalities. This entity is usually transmitted on the autosomal dominant mode. We report two cases (a mother and daughter) with polymalformations which we classed as SODD. Furthermore, agenesis of lacrimal duct and genitourinary abnormalities were noted. The mother had a very particular complex hair shaft dysplasia (incomplete pili torti, "tiger tail" aspect, fractures) with alopecia since she was fifteen years old. The daughter's hair was normal at birth. In SODD, fine and sparse hair is often observed (44 p. 100). Only one patient had hair shaft investigation under polarized light: pili annulati and monilethrix were described but not found in our cases. These two reports incite to the systematic hair shaft study in SODD as other ectodermal dysplasia syndromes.

  14. Skeletal Dysplasias Associated with Mild Myopathy—A Clinical and Molecular Review

    Directory of Open Access Journals (Sweden)

    Katarzyna A. Piróg

    2010-01-01

    Full Text Available Musculoskeletal system is a complex assembly of tissues which acts as scaffold for the body and enables locomotion. It is often overlooked that different components of this system may biomechanically interact and affect each other. Skeletal dysplasias are diseases predominantly affecting the development of the osseous skeleton. However, in some cases skeletal dysplasia patients are referred to neuromuscular clinics prior to the correct skeletal diagnosis. The muscular complications seen in these cases are usually mild and may stem directly from the muscle defect and/or from the altered interactions between the individual components of the musculoskeletal system. A correct early diagnosis may enable better management of the patients and a better quality of life. This paper attempts to summarise the different components of the musculoskeletal system which are affected in skeletal dysplasias and lists several interesting examples of such diseases in order to enable better understanding of the complexity of human musculoskeletal system.

  15. Occult Dysplasia in a Localized Giant Pseudopolyp in Crohn’s Colitis: A Case Report

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    Jonathan Wyse

    2009-01-01

    Full Text Available Localized giant pseudopolyposis of the colon (pseudopolyp larger than 1.5 cm in size is a rare complication of inflammatory bowel disease. There is one report of an occult carcinoma within such a lesion, and no reports of sole dysplasia. A case of a 42-year-old man with longstanding Crohn’s colitis who underwent a colonoscopy revealing a large, multilobulated mass at the splenic flexure that was not amenable to endoscopic removal, is described. Multiple biopsies showed no dysplasia and histology was consistent with an inflammatory pseudopolyp. Computed tomographic colonography demonstrated a mass resembling a large villous tumour. A decision for surgery was made. The surgical specimen was a complex anastomosing inflammatory pseudopolyp 5 cm × 4 cm × 3 cm in size, with a focus of low-grade dysplasia in an area free of inflammation.

  16. 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...... pelvic positioning during assessment of hip deformities because pelvic tilt affects the appearance of acetabular version. Weight-bearing assessment of acetabular version showed the presence of retroversion in 33% of dysplastic hips. The establishment of retroversion as a rather frequent entity...... magnetic resonance arthrography remains the gold standard. PERIACETABULAR OSTEOTOMY FOR SURGICAL TREATMENT OF HIP DYSPLASIA IN ADULTS: Encouraging hip joint survival and clinical outcome were reported at medium-term follow-up after periacetabular osteotomy. The small number of studies reporting the outcome...

  17. A Case Report of Changes of Dysplasia and Multiple Malignancies in a Patient with Epidermodysplasia Verruciformis

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    A. Ansar

    2008-04-01

    Full Text Available Introduction: Epidermodysplasia verruciformis(EV is a very rare, chronic and inherited disorder characterized by widespread and persistent HPV infection. EV Patients present with widespread, discrete or confluent lesions that clinically indistinguishable from plane warts , scaly hyper or hypopigmented macules closely resemble pityriasis versicolor, and thicker plaques may resemble seborrbeic keratosis. Susceptibility to the virus is inherited, usually autosomal recessive. The disease usually manifests in childhood and continue throughout the life. The most important complication is cutaneous changes of dysplasia and malignancy.Case Report: We report a 19 years old boy with clinical and histopathological findings compatible with EV and cutaneous changes of dysplasia and malignancy.Conclusion: We concluded that in patients with combination of plane warts, pityriasis versicolor-like lesions and reddish plaques, it may be considered EV, and it is recommended to evaluate cutaneous changes of dysplasia and malignancy.

  18. Analysis of cause-effect relationship of hip dysplasia in pre-school children

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    Anna Rudenko

    2015-12-01

    Full Text Available Purpose: to analyze and scientifically substantiate peculiarities of cause-effect relationship of hip dysplasia in pre-school children. Material and Methods: analysis and systematization of scientific and methodological literature, medical histories, anamneses, interviews and questionings. Results: it is specified that failure to timely identify and eliminate the symptoms of hip dysplasia in pre-school children leads to negative consequences, namely limited amplitude of hip joint movements; lower limp muscle weakness; valgus and varus deformations of lower limp; increasing of L-lordosis; skewness of hip bones; scoliosis; claudication. Conclusions: the modern state of the problem of hip dysplasia in pre-school children is analyzed. The cause-effect relationship is defined, their mutual transition is projected. All cause-effect relationships are in direct proportion and in constant interaction: the cause the forms effect and the effect influences the cause

  19. Anesthesia for a patient of acromesomelic dysplasia with associated hydrocephalus, Arnold Chiari malformation and syringomyelia

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    Rudrashish Haldar

    2013-01-01

    Full Text Available Acromesomelic dysplasias are autosomal recessive osteochondrodysplasias. Acromesomelic dysplasia Maroteaux-type (AMDM, also known as St Helena dysplasia, is of two types: The classical and the mild variety. About 50 cases of AMDM have been reported till date, most of them being the classical variety. There is scarcity of literature on anesthesia for such patients. We are reporting a case of general anesthetic management of AMDM, associated with hydrocephalus, Arnold Chiari malformation type-1 and syringomyelia. The patient was a 10-year-old short-statured boy who presented with symptomatic thoracic kyphoscoliosis, gibbus deformity and back pain. On examination, there was no neurological deficit. Radiology revealed thoracic kyphoscoliosis, mild ventriculomegaly and upper cervical syringomyelia. The patient underwent posterior fossa decompression in the prone position under general anesthesia. We will discuss the anesthetic considerations for such patients and review the pertinent literature.

  20. Anesthetic management of a pediatric patient with hypohidrotic ectodermal dysplasia undergoing emergency surgery

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    Elif Oral Ahiskalioglu

    2015-12-01

    Full Text Available ABSTRACT Ectodermal dysplasias are rare conditions with a triad of hypotrichosis, anodontia and anhidrosis. In literature review there have been only a few reports of anesthetic management of patients with ectodermal dysplasias. Hyperthermia is a very serious risk which may occur due to the defect of sweat glands. The present case involves a 10-year-old child with ectodermal dysplasia who presented with an acute abdomen and was considered for an emergency surgery. Our aim was to demonstrate the successful management of this case using a combination of general and epidural anesthesia. It is important for anesthesiologist to have information about this syndrome in case of emergency operations, since it can prevent serious complications and even save lives.

  1. Familial florid cemento-osseous dysplasia--a case report and review of the literature.

    Science.gov (United States)

    Coleman, H; Altini, M; Kieser, J; Nissenbaum, M

    1996-12-01

    Cemento-osseous dysplasia is a fairly common lesion of the jaws originating from the elements of the periodontal ligament. Most lesions do not have a hereditary basis, however a few familial cases have been documented. This is the first report of the florid form of cemento-osseous dysplasia in an African family. The mother, son and one daughter exhibited multiple sclerotic cemental masses of the jaws with large tumour-like swellings in the symphyseal area of the mandible. In the case of the mother the lesions had become infected. The familial form of cemento-osseous dysplasia differs from the non-hereditary type in that the lesions present in children, all cases are florid in nature, there is no predilection for black females, the rate of growth appears to be more rapid and the symphyseal area of the mandible is most severely affected. The mode of transmission appears to be autosomal dominant with variable phenotypic expression.

  2. Observer variability in the assessment of type and dysplasia of colorectal adenomas, analyzed using kappa statistics

    DEFF Research Database (Denmark)

    Jensen, P; Krogsgaard, M R; Christiansen, J

    1995-01-01

    of adenomas were assessed twice by three experienced pathologists, with an interval of two months. Results were analyzed using kappa statistics. RESULTS: For agreement between first and second assessment (both type and grade of dysplasia), kappa values for the three specialists were 0.5345, 0.9022, and 0....... The kappa values for Observer A vs. B and Observer C vs. B were 0.3480 and 0.3770, respectively (both type and dysplasia). Values for type were better than for dysplasia, but agreement was only fair to moderate. CONCLUSION: The interobserver agreement was moderate to almost perfect, but the intraobserver...... agreement was only fair to moderate. A simpler classification system or a centralization of assessments would probably increase kappa values....

  3. Sudden death in spondylo-meta-epiphyseal dysplasia, short limb-abnormal calcification type.

    Science.gov (United States)

    Dias, Cristina; Cairns, Robyn; Patel, Millan S

    2009-01-01

    The spondylo-meta-epiphyseal dysplasias are an expanding group of skeletal dysplasias with specific features differentiating each subtype. We review the precocious carpal mineralization, unique metacarpal shape, triangular distal phalanges and mushroom cloud-shaped proximal phalanges present at an early age in spondylo-meta-epiphyseal dysplasia, short limb-abnormal calcification type (SMED SL-AC) and report two patients with clinical and radiographic features consistent with SMED SL-AC, who died suddenly because of spinal cord compression. The patients presented are female siblings, providing further evidence for autosomal recessive inheritance. Cervical cord compression is found in half of reported patients and is the major cause of mortality. SMED SL-AC should be added to the list of genetic causes of sudden death. Radiological features in the hand may be used in the first few years of life to support an early diagnosis and thus allow for prevention of premature demise.

  4. Hip dysplasia associated with a hereditary sensorimotor polyneuropathy mimics a myopathic process

    Directory of Open Access Journals (Sweden)

    Mohammad Javad Hadianfard

    2012-01-01

    Full Text Available Some orthopedic complications have been reported in the hereditary neuropathies. However, the association of the hip dysplasia with this category of neuropathy is rarely recognized. We present a 13-year-old boy with the progressive weakness of the lower extremities, difficulty in walking, climbing stairs, and rising from floor; a wide-based, hyper-extended and waddling gait similar to a myopathic process. Hip radiography showed dysplastic acetabulae with hip subluxation, broken Shenton′s lines, and valgus femoral necks. In electrodiagnosis, there was a significant neuropathic process (absent all evoked sensory potentials, abnormal evoked motor responses, and neurogenic electeromyography which eventually was found to be a hereditary mixed axonal and demyelinating sensorimotor polyneuropathy with concomitant hip dysplasia confirmed with thorough physical examination and the electrodiagnostic study. In patients with gait difficulties such as waddling gait mimicking a myopathic process, hereditary polyneuropathy complicated with hip dysplasia should be considered as well.

  5. Molecular characterization of lung dysplasia induced by c-Raf-1.

    Directory of Open Access Journals (Sweden)

    Astrid Rohrbeck

    Full Text Available BACKGROUND: Lung cancer is a multistage process with poor prognosis and high morbidity. Importantly, the genetics of dysplasia, a facultative cancer, at the edge of malignant transformation is unknown. METHODOLOGY/PRINCIPAL FINDINGS: We employed laser microdissection to harvest c-Raf1- induced dysplastic as opposed to transgenic but otherwise morphologically unaltered epithelium and compared findings to non-transgenic lung. We then employed microarrays to search genome wide for gene regulatory networks. A total of 120 and 287 genes were significantly regulated, respectively. Dysplasia was exclusive associated with up-regulation of genes coding for cell growth and proliferation, cell-to-cell signalling and interaction, lipid metabolism, development, and cancer. Likewise, when dysplasia was compared with non-transgenic cells up-regulation of cancer associated genes, tight junction proteins, xenobiotic defence and developmental regulators was observed. Further, in a comparison of the data sets of dysplasia vs transgenic and dysplasia vs non-transgenic 114 genes were regulated in common. We additionally confirmed regulation of some genes by immunohistochemistry and therefore demonstrate good concordance between gene regulation and coded protein. CONCLUSION: Our study identified transcriptional networks at successive stages of tumor-development, i.e. from histological unaltered but transgenic lungs to nuclear atypia. Our SP-C/c-raf transgenic mouse model revealed interesting and novel candidate genes and pathways that provide clues on the mechanism forcing respiratory epithelium into dysplasia and subsequently cancer, some of which might also be useful in the molecular imaging and flagging of early stages of disease.

  6. Safety and efficacy of endoscopic spray cryotherapy for Barrett's dysplasia: results of the National Cryospray Registry.

    Science.gov (United States)

    Ghorbani, S; Tsai, F C; Greenwald, B D; Jang, S; Dumot, J A; McKinley, M J; Shaheen, N J; Habr, F; Coyle, W J

    2016-04-01

    Retrospective series have shown the efficacy of endoscopic spray cryotherapy in eradicating high-grade dysplasia (HGD) in Barrett's esophagus (BE); however, prospective data are lacking, and efficacy for low-grade dysplasia (LGD) is unclear. The aim of this study was to assess the efficacy and safety of spray cryotherapy in patients with LGD or HGD. A multicenter, prospective open-label registry enrolled patients with dysplastic BE. Spray cryotherapy was performed every 2-3 months until there was no endoscopic evidence of BE and no histological evidence of dysplasia, followed by surveillance endoscopies up to 2 years. Primary outcome measures were complete eradication of dysplasia (CE-D) and complete eradication of all intestinal metaplasia (CE-IM). Ninety-six subjects with Barrett's dysplasia (67% HGD; 65% long-segment BE; mean length 4.5 cm) underwent 321 treatments (mean 3.3 per subject). Mean age was 67 years, 83% were male. Eighty patients (83%) completed treatment with follow-up endoscopy (mean duration 21 months). In patients with LGD, rate of CE-D was 91% (21/23) and rate of CE-IM was 61% (14/23). In HGD, CE-D rate was 81% (46/57) and CE-IM was 65% (37/57). In patients with short-segment BE (SSBE) with any dysplasia, CE-D was achieved in 97% (30/31) and CE-IM in 77% (24/31). There were no esophageal perforations or related deaths. One subject developed a stricture, which did not require dilation. One patient was hospitalized for bleeding in the setting of non-steroidal anti-inflammatory drug use. In the largest prospective cohort to date, data suggest endoscopic spray cryotherapy is a safe and effective modality for eradication of BE with LGD or HGD, particularly with SSBE.

  7. Recognition of minor adult hip dysplasia: which anatomical indices are important?

    Science.gov (United States)

    Pereira, Felipe; Giles, Andrew; Wood, Gavin; Board, Tim N

    2014-01-01

    The rise in popularity of hip arthroscopy has led to a renewed interest in mild hip dysplasia. There is a lack of clarity in the literature regarding both the diagnosis and management of such patients. The aim of this study was to analyse the relative importance of and the inter-relationship between the classically described anatomical indices of dysplasia.One hundred and fifty hips with varying degrees of hip dysplasia were studied. The following were measured: centre-edge (CE), Sharp's and Tönnis angles, acetabular head index (AHI), and acetabular index of depth to width (AIDW). Spearman's correlation coefficient was calculated.Using the CE angle 82 hips were classified as normal and 68 dysplastic. Of the 82 patients with a normal CE angle, 20-39% were dysplastic on at least one other variable. The CE angle did not have a significant correlation to other variables. The remaining four variables showed inter-correlations between 0.26 and 0.54. Overall the Tönnis angle showed the strongest correlation with the other variables. In the patient group with CE angles 21o to 25o (minor dysplasia) 72% of hips had Tönnis angles greater than 10o and 28% had angles greater than or equal to 15o indicating the great variability in the level of dysplasia within this group.In patients with mild dysplasia we have shown that measurement of a single anatomical variable may lead to under-diagnosis. We recommend the measurement the CE angle combined with at least one other variable and suggest the use of the Tönnis angle.

  8. A comparative study of fibrous dysplasia and osteofibrous dysplasia with regard to expressions of c-fos and c-jun products and bone matrix proteins: a clinicopathologic review and immunohistochemical study of c-fos, c-jun, type I collagen, osteonectin, osteopontin, and osteocalcin.

    Science.gov (United States)

    Sakamoto, A; Oda, Y; Iwamoto, Y; Tsuneyoshi, M

    1999-12-01

    Fibrous dysplasia and osteofibrous dysplasia are both benign fibro-osseous lesions of the bone and are generally seen during childhood or adolescence. Histologically, the features of these bone lesions sometimes look quite similar, but their precise nature remains controversial. We retrospectively studied clinicopathologic findings in 62 cases of fibrous dysplasia and 20 cases of osteofibrous dysplasia with regard to their anatomic location and histological appearance. From among these cases, the immunohistochemical expressions of c-fos and c-jun proto-oncogene products and bone matrix proteins of type I collagen, osteonectin, osteopontin, and osteocalcin were evaluated in 20 typical fibrous dysplasias and 17 osteofibrous dysplasias using paraffin sections, and these expressions were then assessed semiquantitatively. Microscopically, fibrous dysplasia showed various secondary changes, such as hyalinization, hemorrhage, xanthomatous reaction, and cystic change in 22 of the 62 cases (35%). This was a higher incidence than in osteofibrous dysplasia, in which only 2 of the 20 cases (10%) showed such changes. In the elderly fibrous dysplasia cases, the cellularity of fibroblast-like cells was rather low, and those cases were hyalinized. Almost all of the cases of fibrous dysplasia and osteofibrous dysplasia showed positive expressions of c-fos and c-jun products. The expressions of type I collagen and osteopontin showed no difference between fibrous dysplasia and osteofibrous dysplasia. Immunoreactivity for osteonectin in bone matrix was detected in only 1 case of fibrous dysplasia (1 of 20), whereas it was recognized in 14 of the 17 cases of osteofibrous dysplasia. Furthermore, the immunoreactivity for osteocalcin in bone matrix and fibroblast-like cells was higher in fibrous dysplasia than it was in osteofibrous dysplasia, semiquantitatively. Our immunohistochemical results regarding osteonectin and osteocalcin suggest that the bone matrix of fibrous dysplasia is

  9. Fibrous Dysplasia Mimicking Malignancy on 68Ga-DOTATATE PET/CT.

    Science.gov (United States)

    Papadakis, Georgios Z; Millo, Corina; Sadowski, Samira M; Karantanas, Apostolos H; Bagci, Ulas; Patronas, Nicholas J

    2017-03-01

    Fibrous dysplasia of the bone is a developmental benign skeletal disorder characterized by replacement of normal bone and normal bone marrow with abnormal fibro-osseous tissue. We report on a case of a biopsy-proven fibrous dysplasia lesion in the left temporal bone, with intensely increased activity (SUVmax, 56.7) on Ga-DOTATATE PET/CT. The presented data indicate cell surface overexpression of somatostatin receptors by fibrous dysplastic cells and highlight the need of cautious management of Ga-DOTATATE-avid bone lesions, which could mimic malignancy especially in patients with history of neuroendocrine tumors.

  10. Congenital osteofibrous dysplasia associated with pseudoarthrosis of the tibia and fibula

    Energy Technology Data Exchange (ETDEWEB)

    Teo, Harvey E.L.; Peh, Wilfred C.G. [KK Women' s and Children' s Hospital, Department of Diagnostic Imaging, 100 Bukit Timah Road (Singapore); Akhilesh, M. [KK Women' s and Children' s Hospital, Department of Pathology, 100 Bukit Timah Road (Singapore); Tan, S.B. [Singapore General Hospital, Department of Orthopaedic Surgery, Outram Road (Singapore); Ishida, T. [Kanto Medical Center, Department of Pathology, Tokyo (Japan)

    2007-06-15

    The association between congenital pseudoarthrosis and osteofibrous dysplasia of the tibia and fibula is a rare entity that has been recently recognized. We report a male newborn who was found to have swelling and deformity of the left lower leg. Radiographs and magnetic resonance imaging showed an extensive destructive lesion of the tibial shaft, with dysplastic congenital pseudoarthrosis of the lower fibula. Histopathologial examination confirmed the diagnosis of congenital pseudoarthrosis of the tibia and fibula with underlying osteofibrous dysplasia involving both bones. Immunohistochemical stains showed cytokeratin positivity. (orig.)

  11. Cushing syndrome, sexual precocity, and polyostotic fibrous dysplasia (Albright syndrome) in infancy.

    Science.gov (United States)

    Danon, M; Robboy, S J; Kim, S; Scully, R; Crawford, J D

    1975-12-01

    The sexual precocity of polyostotic fibrous dysplasia is occasionally accompanied by other endocrine disorders, but in only two previous instances has Cushing syndrome been reported. The history of a 6-month-old girl is presented, in whom this syndrome was complicated by congenital Cushings syndrome. Although endocrinopathies of polyostotic fibrous dysplasia have usually been ascribed to a central (hypothalamic) origin, the findings in this patient suggest autonomous hyperfunction of the peripheral endocrine glands, with the Cushing syndrome caused by hyperplastic nodules in the adrenal glands and the precocity by luteinized follicular cysts of the ovary.

  12. Quantitative biomarkers of colonic dysplasia based on intrinsic second-harmonic generation signal

    Science.gov (United States)

    Zhuo, Shuangmu; Zhu, Xiaoqin; Wu, Guizhu; Chen, Jianxin; Xie, Shusen

    2011-12-01

    Most colorectal cancers arise from dysplastic lesions, such as adenomatous polyps, and these lesions are difficult to be detected by the current endoscopic screening approaches. Here, we present the use of an intrinsic second-harmonic generation (SHG) signal as a novel means to differentiate between normal and dysplastic human colonic tissues. We find that the SHG signal can quantitatively identify collagen change associated with colonic dysplasia that is indiscernible by conventional pathologic techniques. By comparing normal with dysplastic mucosa, there were significant differences in collagen density and collagen fiber direction, providing substantial potential to become quantitative intrinsic biomarkers for in vivo clinical diagnosis of colonic dysplasia.

  13. Malformation of the fetal brain in thanatophoric dysplasia: US and MRI findings

    Energy Technology Data Exchange (ETDEWEB)

    Fink, A.M. [The Royal Children' s Hospital, Department of Medical Imaging, Melbourne, Victoria (Australia); The Royal Women' s Hospital, Fetal Management Unit, Melbourne, Victoria (Australia); The University of Melbourne, Department of Radiology, Melbourne, Victoria (Australia); Hingston, Tania; Sampson, Amanda [The Royal Women' s Hospital, Fetal Management Unit, Melbourne, Victoria (Australia); Ng, Jessica [The Royal Children' s Hospital, Department of Anatomical Pathology, Melbourne, Victoria (Australia); The Royal Women' s Hospital, Department of Anatomical Pathology, Melbourne, Victoria (Australia); Palma-Dias, Ricardo [The Royal Women' s Hospital, Fetal Management Unit, Melbourne, Victoria (Australia); The University of Melbourne, Department of Obstetrics and Gynaecology, Melbourne (Australia)

    2010-12-15

    We present a case in which the unusual cerebral malformations of thanatophoric dysplasia (TD) were identified on a 21-week fetal US and confirmed by antenatal MRI, postmortem imaging and autopsy. TD is the most common lethal skeletal dysplasia and is characterized by short long bones, which are often bowed (type 1), a small thorax, and skull deformities. There is also a recognised constellation of abnormalities of the brain primarily affecting the temporal lobes that, although well described in the postmortem setting, are not widely recognized in fetal imaging. Familiarity with this appearance will facilitate accurate antenatal diagnosis. (orig.)

  14. Brain Herniation in Neurofibromatosis with Dysplasia of Occipital Bone and Posterior Skull Base

    Directory of Open Access Journals (Sweden)

    Vithal Rangarajan

    2015-01-01

    Full Text Available A 22-year-old female, a known case of neurofibromatosis 1 (NF1, presented with a congenital swelling in the left occipital region. She had developed recent onset dysphagia and localized occipital headache. Neuroradiology revealed a left occipital meningoencephalocele and a left parapharyngeal meningocele. This was associated with ventriculomegaly. She was advised on cranioplasty along with duraplasty which she denied. She agreed to a lumbar-peritoneal shunt. She described a dramatic improvement in her symptoms following the lumbar-peritoneal shunt. Occipital dysplasias, though uncommon, have been reported in the literature. We review this case and its management and discuss relevant literature on occipital dysplasias in NF1.

  15. Telomere shortening correlates to dysplasia but not to DNA aneuploidy in longstanding ulcerative colitis

    DEFF Research Database (Denmark)

    Friis-Ottessen, Mariann; Bendix, Laila; Kølvraa, Steen;

    2014-01-01

    Ulcerative colitis (UC) is a chronic, inflammatory bowel disease which may lead to dysplasia and adenocarcinoma in patients when long-lasting. Short telomeres have been reported in mucosal cells of UC patients. Telomeres are repetitive base sequences capping the ends of linear chromosomes......, and protect them from erosion and subsequent wrongful recombination and end-to-end joining during cell division. Short telomeres are associated with the development of chromosomal instability and aneuploidy, the latter being risk factors for development of dysplasia and cancer. Specifically, the abrupt...... shortening of one or more telomeres to a critical length, rather than bulk shortening of telomeres, seems to be associated with chromosomal instability....

  16. Surgical advances in periacetabular osteotomy for treatment of hip dysplasia in adults

    DEFF Research Database (Denmark)

    Troelsen, Anders

    2009-01-01

    adults with symptomatic hip dysplasia. The surgical aim of this extensive procedure is to reorient the acetabulum to improve coverage and eliminate the pathological hip joint mechanics. Intraoperative assessment of the achieved acetabular reorientation is therefore crucial. The "classic" surgical......Hip dysplasia is characterized by an excessively oblique and shallow acetabulum with insufficient coverage of the femoral head. It is a known cause of pain and the development of early osteoarthritis in young adults. The periacetabular osteotomy is the joint-preserving treatment of choice in young...

  17. An unusual form of spondyloepiphyseal dysplasia, with advanced carpal and spinal end-plate ossification mimicking COMP-mutation-like multiple epiphyseal dysplasia

    Energy Technology Data Exchange (ETDEWEB)

    Pazzaglia, Ugo E.; Zarattini, Guido [University of Brescia Medical School, Department of Orthopaedics and Traumatology, Brescia (Italy); Beluffi, Giampiero [Fondazione IRCCS Policlinico S. Matteo, Section of Paediatric Radiology, Department of Radiodiagnosis, Pavia (Italy)

    2008-07-15

    We present a child with irregular ossification of tubular bone epiphyses, short bones, and spine. The radiographic evolution of bones undergoing endochondral ossification was followed from the age of 1 year 9 months to 6 years. The unusual features demonstrated in this child made classification difficult: pseudoachondroplasia was excluded because no mutations of the COMP gene were found. Considering the evolution of the radiographic appearances, the most likely diagnosis would seem to be an unusual form of spondyloepiphyseal dysplasia, mimicking some aspects of multiple epiphyseal dysplasia. Endochondral ossification was diffusely altered with a mixture of epiphyseal ossification delay associated with acceleration and early fusion. This case was a unique presentation within the family, suggesting a mutation in the affected child. (orig.)

  18. Septo-optic dysplasia Displasia septo-óptica

    Directory of Open Access Journals (Sweden)

    Karina de Ferran

    2010-06-01

    Full Text Available 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 hypothalamo-pituitary axis such as anterior pituitary hypoplasia (3/5, ectopic posterior pituitary (4/5, thin or absent stalk (3/5 and empty sella (1/5. We also encountered diverse pituitary deficiencies: growth hormone (3/5, adrenocorticotropic hormone (3/5, thyroid-stimulating hormone (2/5 and antidiuretic hormone (1/5. Only one child presented intact pituitary function and anatomy. Although rare, SOD is an important cause of congenital hypopituitarism and it should be considered in children with optic nerve hypoplasia or midline brain abnormalities for early diagnosis and treatment.A displasia septo-óptica (DSO, síndrome de Morsier é uma condição congênita rara definida por dois critérios da tríade: defeitos de linha média, hipoplasia de nervo óptico e insuficiência hipotálamo-hipofisária. Descrevemos 5 casos de DSO, encaminhados por baixa estatura, com hipoplasia dos nervos ópticos, nistagmo e atraso global do desenvolvimento. Destes, 4 possuem alteração na ressonância magnética de sela túrcica e insuficiência hipotálamo-hipofisária, tendo sido observada adeno-hipófise hipoplásica (3/5, neuro-hipófise ectópica (4/5, haste afilada/ausente (3/5 e sela vazia (1/5, além de déficit dos eixos somatotrófico (3/5, adrenocorticotrófico (3/5, tireotrófico (2/5 e do hormônio antidiurético (1/5. Apenas um paciente não apresenta alteração anatômica ou funcional do eixo hipotálamo-hipofisário. Embora rara, a DSO é causa importante de

  19. Hereditary dentine disorders: dentinogenesis imperfecta and dentine dysplasia.

    Science.gov (United States)

    Barron, Martin J; McDonnell, Sinead T; Mackie, Iain; Dixon, Michael J

    2008-11-20

    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 chambers radiographically. The underlying defect of mineralisation often results in shearing of the overlying enamel leaving exposed weakened dentine which is prone to wear. Currently, three sub-types of DGI and two sub-types of DD are recognised but this categorisation may change when other causative mutations are found. DGI type I is inherited with osteogenesis imperfecta and recent genetic studies have shown that mutations in the genes encoding collagen type 1, COL1A1 and COL1A2, underlie this condition. All other forms of DGI and DD, except DD-1, appear to result from mutations in the gene encoding dentine sialophosphoprotein (DSPP), suggesting that these conditions are allelic. Diagnosis is based on family history, pedigree construction and detailed clinical examination, while genetic diagnosis may become useful in the future once sufficient disease-causing mutations have been discovered. Differential diagnoses include hypocalcified forms of amelogenesis imperfecta, congenital erythropoietic porphyria, conditions leading to early tooth loss (Kostmann's disease, cyclic neutropenia, Chediak-Hegashi syndrome, histiocytosis X, Papillon-Lefevre syndrome), permanent teeth discolouration due to tetracyclines, Vitamin D-dependent and vitamin D-resistant rickets. Treatment involves removal of sources of infection or pain, improvement of aesthetics and protection of the posterior teeth from wear. Beginning in infancy, treatment usually continues into adulthood with a number of options including

  20. Hereditary dentine disorders: dentinogenesis imperfecta and dentine dysplasia

    Directory of Open Access Journals (Sweden)

    MacKie Iain

    2008-11-01

    Full Text Available 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 chambers radiographically. The underlying defect of mineralisation often results in shearing of the overlying enamel leaving exposed weakened dentine which is prone to wear. Currently, three sub-types of DGI and two sub-types of DD are recognised but this categorisation may change when other causative mutations are found. DGI type I is inherited with osteogenesis imperfecta and recent genetic studies have shown that mutations in the genes encoding collagen type 1, COL1A1 and COL1A2, underlie this condition. All other forms of DGI and DD, except DD-1, appear to result from mutations in the gene encoding dentine sialophosphoprotein (DSPP, suggesting that these conditions are allelic. Diagnosis is based on family history, pedigree construction and detailed clinical examination, while genetic diagnosis may become useful in the future once sufficient disease-causing mutations have been discovered. Differential diagnoses include hypocalcified forms of amelogenesis imperfecta, congenital erythropoietic porphyria, conditions leading to early tooth loss (Kostmann's disease, cyclic neutropenia, Chediak-Hegashi syndrome, histiocytosis X, Papillon-Lefevre syndrome, permanent teeth discolouration due to tetracyclines, Vitamin D-dependent and vitamin D-resistant rickets. Treatment involves removal of sources of infection or pain, improvement of aesthetics and protection of the posterior teeth from wear. Beginning in infancy, treatment usually continues into adulthood with a

  1. Nuclear fractal dimension: A new objective approach for discriminating normal mucosa, dysplasia and carcinoma

    Science.gov (United States)

    Phulari, Rashmi G S; Rathore, Rajendrasinh S; Talegaon, Trupti Pramod

    2016-01-01

    Background: Various clinical and histological factors have helped in predicting the survival of patients with oral squamous cell carcinoma (OSCC). However, there has been a need for more specialized diagnostic and prognostic factors to avoid subjective variation among opinion. Thus, fractal dimension (FD) can be used as an index of the morphological changes that the epithelial cells undergo during their transformation into neoplastic cell. In oral cancer study, nuclear FD (NFD) can be used as a quantitative index to discriminate between normal, dysplastic and neoplastic oral mucosa. Aim: To use nuclear fractal geometry to compare the morphometric complexity in the normal, epithelial dysplasia and OSCC cases and to verify the difference among the various histological grades of dysplasia and OSCC. It was fulfilled by estimating the FDs of the nuclear surface. Materials and Methods: Histopathologically diagnosed cases of epithelial dysplasia and OSCC were taken from the archives. Photomicrographs were captured with the help of Lawrence and Mayo research microscope. The images were then subjected to image analysis using the Image J software with FracLac plugin java 1.6 to obtain FDs. FD of ten selected nuclei was calculated using the box-counting algorithm. Statistical Analysis: was done using descriptive analysis, ANOVA and Tukey's honest significant difference post hoc tests with STATAIC-13 software. Results and Conclusion: NFD can provide valuable information to discriminate between normal mucosa, dysplasia and carcinoma objectively without subjective discrimination.

  2. The role of osteonecrosis in canine coronoid dysplasia: Arthroscopic and histopathological findings

    NARCIS (Netherlands)

    Mariee, I.C.; Gröne, A.; Theyse, L.F.H.

    2014-01-01

    Coronoid dysplasia (CD) or medial coronoid disease is part of canine elbowdysplasia and eventually results in osteoarthrosis. Although CDwas originally attributed to disturbed endochondral ossification,more recent data point to the subchondral bone. The objective of this study was to assess dysplast

  3. Anhidrotic ectodermal dysplasia with pectus excavatum, mitral valve prolapse and palmo-plantar keratoderma

    Directory of Open Access Journals (Sweden)

    Balachandran C

    1998-01-01

    Full Text Available Anhidrotic ectodermal dysplasia (AED is a rare x-linked recessive disorder characterised by the triad of hypotrichosis, anodontia and anhidrosis. Here we report a case of AED with associated features of pectus excavatum, mitral valve prolapse and palmoplantar keratoderma.

  4. Psychosocial predictors of parental participation in ultrasound screening for developmental dysplasia of the hip

    NARCIS (Netherlands)

    Witting, M.; Boere-Boonekamp, M.M.; Fleuren, M.A.H.; Sakkers, R.J.B.; IJzerman, M.J.

    2013-01-01

    Ultrasound screening for developmental dysplasia of the hip (DDH) is an innovation in preventive child health care in the Netherlands. Parental participation in the screening will be essential for the success of implementation of the screening. The aim of the current study was to investigate whether

  5. Neuropsychological Evaluation and Follow-Up of Children with Cerebellar Cortical Dysplasia

    Science.gov (United States)

    Jissendi-Tchofo, Patrice; Pandit, Florence; Soto-Ares, Gustavo; Vallee, Louis

    2011-01-01

    Aim: To describe neuropsychological disturbances and the developmental course associated with cerebellar cortical dysplasia (CCD). Method: The neuroimaging findings from 10 children (five males, five females; aged 3-10y) with CCD were reviewed and classified. These children all underwent clinical neurological examination and neuropsychological…

  6. KDF1, encoding keratinocyte differentiation factor 1, is mutated in a multigenerational family with ectodermal dysplasia

    KAUST Repository

    Shamseldin, Hanan E.

    2016-11-12

    Ectodermal dysplasia is a highly heterogeneous group of disorders that variably affect the derivatives of the ectoderm, primarily skin, hair, nails and teeth. TP63, itself mutated in ectodermal dysplasia, links many other ectodermal dysplasia disease genes through a regulatory network that maintains the balance between proliferation and differentiation of the epidermis and other ectodermal derivatives. The ectodermal knockout phenotype of five mouse genes that regulate and/or are regulated by TP63 (Irf6, Ikkα, Ripk4, Stratifin, and Kdf1) is strikingly similar and involves abnormal balance towards proliferation at the expense of differentiation, but only the first three have corresponding ectodermal phenotypes in humans. We describe a multigenerational Saudi family with an autosomal dominant form of hypohidrotic ectodermal dysplasia in which positional mapping and exome sequencing identified a novel variant in KDF1 that fully segregates with the phenotype. The recapitulation of the phenotype we observe in this family by the Kdf1−/− mouse suggests a causal role played by the KDF1 variant.

  7. Exonization of a LINE1 fragment implicated in X-linked hypohidrotic ectodermal dysplasia in cattle

    DEFF Research Database (Denmark)

    Karlskov-Mortensen, Peter; Cirera Salicio, Susanna; Nielsen, Ole Lerberg;

    2011-01-01

    A case of X-linked hypohidrotic ectodermal dysplasia (XHED) was identified in a family of Danish Red Holstein cattle. The ectodysplasin-signalling protein (EDA) is known to be central in the normal development of ectodermal structures, and mutations in the ectodysplasin A (EDA) gene have been rep...

  8. Impact of genotype on clinical course in arrhythmogenic right ventricular dysplasia/cardiomyopathy-associated mutation carriers

    NARCIS (Netherlands)

    Bhonsale, Aditya; Groeneweg, Judith A.; James, Cynthia A.; Dooijes, Dennis; Tichnell, Crystal; Jongbloed, Jan D. H.; Murray, Brittney; Riele, Anneline S. J. M. te; van den Berg, Maarten P.; Bikker, Hennie; Atsma, Douwe E.; de Groot, Natasja M.; Houweling, Arjan C.; van der Heijden, Jeroen F.; Russell, Stuart D.; Doevendans, Pieter A.; van Veen, Toon A.; Tandri, Harikrishna; Wilde, Arthur A.; Judge, Daniel P.; van Tintelen, J. Peter; Calkins, Hugh; Hauer, Richard N.

    2015-01-01

    AIMS: We sought to determine the influence of genotype on clinical course and arrhythmic outcome among arrhythmogenic right ventricular dysplasia/cardiomyopathy (ARVD/C)-associated mutation carriers. METHODS AND RESULTS: Pathogenic mutations in desmosomal and non-desmosomal genes were identified in

  9. Ectodermal Dysplasia with Amastia: A Case of One-Step Reconstruction

    Directory of Open Access Journals (Sweden)

    M. Klinger

    2009-01-01

    Full Text Available Background. Female patients presenting amastia associated with ectodermal dysplasia are not frequently encountered, but they are of great clinical interest and surgically demanding. Traditionally, skin alterations related to Ectodermal Dysplasia have addressed plastic surgeons to perform a two-stage approach in amastia associated with this congenital pathologic condition. This article describes an alternative method for correcting this deformity trough a mammary reconstruction in one surgical stage. Materials and Methods. We report a case of 26-year-old female patient with bilateral amastia associated with ectodermal dysplasia. Amastia in this patient was treated with implantation of subpectoral silicone gel prostheses, without previously breast tissue expansion. Results. At 18 months of follow-up after surgey, there were no complications and excellent cosmetic results were achieved. Patient and surgeon satisfaction was high and the patient underwent a bilateral areola-tattoo. Conclusions. One-stage mammary reconstruction have showed to be a reliable and effective technique also when amastia is associated with Ectodermal Dysplasia, suggesting a still satisfying biomechanical performance of the skin in this pathology.

  10. Cemento-osseous dysplasia-like lesion and complex odontoma associated with an impacted third molar.

    Science.gov (United States)

    Prodromidis, Georgios I; Tosios, Konstantinos I; Koutlas, Ioannis G

    2011-12-01

    We present a case of a 36-year-old female with a benign fibro-osseous lesion consistent with cemento-osseous dysplasia (COD) that was located coronally to the crown of an impacted mandibular third molar tooth and was associated with a complex odontoma. The pathogenesis of this unusual association is discussed and the odontogenic origin of COD is suggested.

  11. Wildervanck's syndrome with severe inner ear dysplasia and agenesis of the right internal carotid artery.

    Science.gov (United States)

    Hernando, Mónica; Urbasos, María; Amarillo, Viviana Elizabeth; Herrera, María Teresa; García-Peces, Victoria; Plaza, Guillermo

    2014-04-01

    We describe a case with Wildervanck syndrome (cervico-oculo-acoustic syndrome) comprising Klippel-Feil anomaly, retractio bulbi (Duane syndrome), and congenital sensorineural deafness. An 18-month male baby had a severe inner ear dysplasia, and MRI also showed a complex vascular carotid malformation associated.

  12. Elbow dysplasia in the dog : pathophysiology, diagnosis and control : review article

    Directory of Open Access Journals (Sweden)

    R.M. Kirberger

    1998-07-01

    Full Text Available Elbow dysplasia is a non-specific term denoting abnormal development of the elbow. Elbow dysplasia encompasses the clinical and radiographic manifestation of ununited anconeal process, fragmented medial coronoid process, osteochondritis dissecans, erosive cartilage lesions and elbow incongruity. The net result is elbow arthrosis, which may be clinically inapparent or result in marked lameness. These conditions may be diagnosed by means of routine or special radiographic views and other imaging modalities, or the precise cause of the arthrosis or lameness may remain undetermined. Breeds most commonly affected are the rottweiler, Bernese mountain dog, Labrador and golden retriever and the German shepherd dog. Certain breeds are more susceptible to a particular form of elbow dysplasia and more than 1 component may occur simultaneously. The various conditions are thought to result from osteochondrosis of the articular or physeal cartilage that results in disparate growth of the radius and ulna. Heritability has been proven for this polygenic condition and screening programmes to select suitable breeding stock have been initiated in several countries and have decreased the incidence of elbow dysplasia.

  13. A review of imaging protocols for suspected skeletal dysplasia and a proposal for standardisation

    Energy Technology Data Exchange (ETDEWEB)

    Watson, Sarah G. [Royal Surrey County Hospital, Department of Radiology, Surrey (United Kingdom); Calder, Alistair D. [Great Ormond Street Hospital for Children, NHS Foundation Trust, Department of Radiology, London (United Kingdom); Offiah, Amaka C. [Sheffield Children' s NHS Foundation Trust, The University of Sheffield Academic Unit of Child Health, Sheffield (United Kingdom); Negus, Samantha [St George' s Hospital, Department of Radiology, London (United Kingdom)

    2015-11-15

    Expert radiology opinions are often requested to aid diagnosis of skeletal dysplasias or dysostoses, but due to variability in the imaging protocols used at different centres the views presented may be considered inadequate or incomplete resulting in diagnostic delays and increased patient and family anxiety. We propose the introduction of a standardised protocol that may be adapted in certain specific situations. (orig.)

  14. Overexpression of Shox2 Leads to Congenital Dysplasia of the Temporomandibular Joint in Mice

    Directory of Open Access Journals (Sweden)

    Xihai Li

    2014-07-01

    Full Text Available Our previous study reported that inactivation of Shox2 led to dysplasia and ankylosis of the temporomandibular joint (TMJ, and that replacing Shox2 with human Shox partially rescued the phenotype with a prematurely worn out articular disc. However, the mechanisms of Shox2 activity in TMJ development remain to be elucidated. In this study, we investigated the molecular and cellular basis for the congenital dysplasia of TMJ in Wnt1-Cre; pMes-stop Shox2 mice. We found that condyle and glenoid fossa dysplasia occurs primarily in the second week after the birth. The dysplastic TMJ of Wnt1-Cre; pMes-stop Shox2 mice exhibits a loss of Collagen type I, Collagen type II, Ihh and Gli2. In situ zymography and immunohistochemistry further demonstrate an up-regulation of matrix metalloproteinases (MMPs, MMP9 and MMP13, accompanied by a significantly increased cell apoptosis. In addition, the cell proliferation and expressions of Sox9, Runx2 and Ihh are no different in the embryonic TMJ between the wild type and mutant mice. Our results show that overexpression of Shox2 leads to the loss of extracellular matrix and the increase of cell apoptosis in TMJ dysplasia by up-regulating MMPs and down-regulating the Ihh signaling pathway.

  15. Arrhythmogenic right ventricular dysplasia/cardiomyopathy diagnostic task force criteria: impact of new task force criteria

    NARCIS (Netherlands)

    M.G.P.J. Cox; J.J. van der Smagt; M. Noorman; A.C. Wiesfeld; P.G.A. Volders; I.M. van Langen; D.E. Atsma; D. Dooijes; A.C. Houweling; P. Loh; L. Jordaens; Y. Arens; M.J. Cramer; P.A. Doevendans; J.P. van Tintelen; A.A.M. Wilde; R.N.W. Hauer

    2010-01-01

    BACKGROUND: Arrhythmogenic Right Ventricular Dysplasia/Cardiomyopathy (ARVD/C) Diagnostic Task Force Criteria (TFC) proposed in 1994 are highly specific but lack sensitivity. A new international task force modified criteria to improve diagnostic yield. A comparison of diagnosis by 1994 TFC versus ne

  16. Cleidocranial Dysplasia Case Report: Remodeling of Teeth as Aesthetic Restorative Treatment

    Directory of Open Access Journals (Sweden)

    Leonardo Fernandes da Cunha

    2014-01-01

    Full Text Available Cleidocranial dysplasia (CCD, is an autosomal dominant disorder with a prevalence of 1 in 1,000,000 individuals. It is generally characterized by orofacial manifestations, including enamel hypoplasia, retained primary teeth, and impacted permanent and supernumerary teeth. The successful treatment involving a timing intervention (orthodontic-maxillofacial surgeons-restorative is already described. However, the restorative treatment might improve the aesthetic final result in dentistry management for patients with cleidocranial dysplasia. Objective. Therefore, this clinical report presents a conservative restorative management (enamel microabrasion, dental bleaching, and direct composite resin for aesthetic solution for a patient with CCD. Clinical Considerations. The cosmetic remodeling is a conservative, secure, and low cost therapy that can be associated with other procedures such as enamel microabrasion and dental bleaching to achieve optimal outcome. Additionally, the Golden Proportion can be used to guide dental remodeling to improve the harmony of the smile and the facial composition. Conclusions. Thus, dentists must know and be able to treat dental aesthetic problems in cleidocranial dysplasia patients. The intention of this paper is to describe a restorative approach with the cosmetic remodeling teeth (by grinding or addicting material associated with enamel microabrasion and dental bleaching to reestablish the form, shape, and color of smile for patients with cleidocranial dysplasia.

  17. Cleidocranial dysplasia - review with an emphasis on otological and audiological manifestations.

    Science.gov (United States)

    Segal, Nili; Puterman, Moshe

    2007-04-01

    Cleidocranial dysplasia is a rare developmental abnormality of bone that affects both the skeleton and the temporal bone. It is genetically characterized and the clinical signs and symptoms can be diverse. Aural pathologies may be the presenting symptoms of the disease. We reviewed the up to date literature on the syndrome with an emphasis on the otological and audiological manifestation.

  18. Maxillary fibrous dysplasia associated with McCune-Albright syndrome. A case study

    Directory of Open Access Journals (Sweden)

    Wójcik Sylwia

    2016-01-01

    Full Text Available McCune Albright syndrome (MCA is a rare complication of genetic origin. The authors present a case study of a patient with MCA diagnosed with multifocal fibrous dysplasia in his limb and craniofacial bones. The symptoms of the disease in the patient’s facial and oral tissue and the treatment administered have been described.

  19. Spinal polyostotic fibrous dysplasia in two adults: Does only biopsy unravel the mystery?

    Directory of Open Access Journals (Sweden)

    Abhay Gundgurthi

    2013-01-01

    Full Text Available Polyostotic fibrous dysplasia is a rare non-inheritable genetic disease due to mutation in GNAS gene. Here we present two adults who were accidentally detected lytic lesions in spine and after extensive evaluation for malignancies; was diagnosed on biopsy. Current concept of the disease and management is discussed.

  20. Maxillary fibrous dysplasia associated with McCune-Albright syndrome. A case study.

    Science.gov (United States)

    Wójcik, Sylwia; Koszowski, Rafał; Drozdowska, Bogna; Śmieszek-Wilczewska, Joanna; Raczkowska-Siostrzonek, Agnieszka

    2016-01-01

    McCune Albright syndrome (MCA) is a rare complication of genetic origin. The authors present a case study of a patient with MCA diagnosed with multifocal fibrous dysplasia in his limb and craniofacial bones. The symptoms of the disease in the patient's facial and oral tissue and the treatment administered have been described.

  1. Maxillary fibrous dysplasia associated with McCune-Albright syndrome. A case study

    OpenAIRE

    Wójcik Sylwia; Koszowski Rafał; Drozdowska Bogna; Śmieszek-Wilczewska Joanna; Raczkowska-Siostrzonek Agnieszka

    2016-01-01

    McCune Albright syndrome (MCA) is a rare complication of genetic origin. The authors present a case study of a patient with MCA diagnosed with multifocal fibrous dysplasia in his limb and craniofacial bones. The symptoms of the disease in the patient’s facial and oral tissue and the treatment administered have been described.

  2. Approach to family screening in arrhythmogenic right ventricular dysplasia/cardiomyopathy

    NARCIS (Netherlands)

    Te Riele, Anneline S J M; James, Cynthia A; Groeneweg, Judith A; Sawant, Abhishek C; Kammers, Kai; Murray, Brittney; Tichnell, Crystal; van der Heijden, Jeroen F; Judge, Daniel P; Dooijes, Dennis; van Tintelen, J Peter; Hauer, Richard N W; Calkins, Hugh; Tandri, Harikrishna

    2015-01-01

    AIMS: A combination of variable expression, age-related penetrance, and unpredictable arrhythmic events complicates management of relatives of arrhythmogenic right ventricular dysplasia/cardiomyopathy (ARVD/C) patients. We aimed to (i) determine predictors of ARVD/C diagnosis and (ii) optimize arrhy

  3. Electroanatomic Correlates of Depolarization Abnormalities in Arrhythmogenic Right Ventricular Dysplasia/Cardiomyopathy

    NARCIS (Netherlands)

    Tanawuttiwat, Tanyanan; Te Riele, Anneline S J M; Philips, Binu; James, Cynthia A; Murray, Brittney; Tichnell, Crystal; Sawant, Abhishek C; Calkins, Hugh; Tandri, Harikrishna

    2016-01-01

    BACKGROUND: Epsilon waves and other depolarization abnormalities in the right precordial leads are thought to represent delayed activation of the right ventricular outflow tract in arrhythmogenic right ventricular dysplasia/cardiomyopathy (ARVD/C). However, no study has directly correlated cardiac e

  4. Molecular screening of ADAMTSL2 gene in 33 patients reveals the genetic heterogeneity of geleophysic dysplasia

    NARCIS (Netherlands)

    Allali, Slimane; Le Goff, Carine; Pressac-Diebold, Isabelle; Pfennig, Gwendoline; Mahaut, Clementine; Dagoneau, Nathalie; Alanay, Yasemin; Brady, Angela F.; Crow, Yanick J.; Devriendt, Koen; Drouin-Garraud, Valerie; Flori, Elisabeth; Genevieve, David; Hennekam, Raoul C.; Hurst, Jane; Krakow, Deborah; Le Merrer, Martine; Lichtenbelt, Klaske D.; Lynch, Sally A.; Lyonnet, Stanislas; MacDermot, Kay; Mansour, Sahar; Megarbane, Andre; Santos, Heloisa G.; Splitt, Miranda; Superti-Furga, Andrea; Unger, Sheila; Williams, Denise; Munnich, Arnold; Cormier-Daire, Valerie

    2011-01-01

    Background Geleophysic dysplasia (GD, OMIM 231050) is an autosomal recessive disorder characterised by short stature, small hands and feet, stiff joints, and thick skin. Patients often present with a progressive cardiac valvular disease which can lead to an early death. In a previous study including

  5. Interradicular dentin dysplasia associated with amelogenesis imperfecta with taurodontism or trichodentoosseous syndrome: A diagnostic dilemma

    Directory of Open Access Journals (Sweden)

    Veda Hegde

    2014-01-01

    Full Text Available Amelogenesis imperfecta is a hereditary disorder with diverse clinical presentation, where enamel is the tissue that is primarily affected either quantitatively or qualitatively. Hypomaturation/hypoplastic amelogenesis imperfecta with taurodontism is a rare variant of amelogenesis imperfecta which is often confused with trichodentoosseous syndrome. We report a rare case of hereditary enamel defect with taurodontism associated with interradicular dentin dysplasia.

  6. Interradicular dentin dysplasia associated with amelogenesis imperfecta with taurodontism or trichodentoosseous syndrome: a diagnostic dilemma.

    Science.gov (United States)

    Hegde, Veda; Srikanth, K

    2014-01-01

    Amelogenesis imperfecta is a hereditary disorder with diverse clinical presentation, where enamel is the tissue that is primarily affected either quantitatively or qualitatively. Hypomaturation/hypoplastic amelogenesis imperfecta with taurodontism is a rare variant of amelogenesis imperfecta which is often confused with trichodentoosseous syndrome. We report a rare case of hereditary enamel defect with taurodontism associated with interradicular dentin dysplasia.

  7. Embryonic stem cells as an ectodermal cellular model of human p63-related dysplasia syndromes.

    NARCIS (Netherlands)

    Rostagno, P.; Wolchinsky, Z.; Vigano, A.M.; Shivtiel, S.; Zhou, H.; Bokhoven, J.H.L.M. van; Ferone, G.; Missero, C.; Mantovani, R.; Aberdam, D.; Virolle, T.

    2010-01-01

    Heterozygous mutations in the TP63 transcription factor underlie the molecular basis of several similar autosomal dominant ectodermal dysplasia (ED) syndromes. Here we provide a novel cellular model derived from embryonic stem (ES) cells that recapitulates in vitro the main steps of embryonic skin d

  8. Heterotopias, cortical dysplasias and glioneural tumors participate in cognitive processing in patients with temporal lobe epilepsy.

    NARCIS (Netherlands)

    Kirschstein, T.; Fernandez, G.S.E.; Grunwald, T.; Pezer, N.; Urbach, H.; Blumcke, I.; Roost, D. van; Lehnertz, K.; Elger, C.E.

    2003-01-01

    Focal brain lesions such as cortical dysplasia and glioneural tumors generate epileptic activity and thus may be synaptically connected with normal cortex. To test this hypothesis, we compared event-related potentials recorded directly from the medial temporal lobe (MTL) and a dysplastic lesion in e

  9. Renal Artery Stenosis in a Young Female without Fibromuscular Dysplasia with Literature Review.

    Science.gov (United States)

    Peralta, Paloma; Cholankeril, Matthew; Goldberg, Daniel; Koneru, Jayanth; Shamoon, Fayez

    2016-01-01

    Renal artery stenosis (RAS) is rare in young patients without fibromuscular dysplasia (FMD). RAS is primarily classified as having two major etiologies, namely, atherosclerosis and FMD, with 90% and 10%, respectively. We report a case of a female in her mid 20s who developed hypertension due to RAS with no evidence of FMD or underlying renal dysfunction and underwent successful angioplasty and stenting.

  10. Three-dimensional computed tomography analysis of non-osteoarthritic adult acetabular dysplasia

    Energy Technology Data Exchange (ETDEWEB)

    Ito, Hiroshi; Matsuno, Takeo; Hirayama, Teruhisa; Tanino, Hiromasa; Yamanaka, Yasuhiro [Asahikawa Medical College, Department of Orthopaedic Surgery, Asahikawa (Japan); Minami, Akio [Hokkaido University School of Medicine, Department of Orthopaedic Surgery, Sapporo (Japan)

    2009-02-15

    Little data exists on the original morphology of acetabular dysplasia obtained from patients without radiographic advanced osteoarthritic changes. The aim of this study was to investigate the distribution and degree of acetabular dysplasia in a large number of patients showing no advanced degenerative changes using three-dimensional computed tomography (3DCT). Eighty-four dysplastic hips in 55 consecutive patients were studied. All 84 hips were in pre- or early osteoarthritis without radiographic evidence of joint space narrowing, formation of osteophytes or cysts, or deformity of femoral heads. The mean age at the time of CT scan was 35 years (range 15-64 years). 3D images were reconstructed and analyzed using recent computer imaging software (INTAGE Realia and Volume Player). Deficiency types and degrees of acetabular dysplasia were precisely evaluated using these computer software. The average Harris hip score at CT scans was 82 points. Twenty-two hips (26%) were classified as anterior deficiency, 17 hips (20%) as posterior deficiency, and 45 hips (54%) as lateral deficiency. No significant difference was found in the Harris hip score among these groups. The analysis of various measurements indicated wide variations. There was a significant correlation between the Harris hip score and the acetabular coverage (p < 0.001). Our results indicated wide variety of deficiency type and degree of acetabular dysplasia. Hips with greater acetabular coverage tended to have a higher Harris hip score. (orig.)

  11. Chorioretinal dysplasia-microcephaly-mental retardation syndrome : Another family with autosomal dominant inheritance

    NARCIS (Netherlands)

    Hordijk, R; VandeLogt, F; Houtman, WA; VanEssen, AJ

    1996-01-01

    We describe a boy and his father with the chorioretinal dysplasia-microcephaly-mental retardation syndrome (CDMMS). Our report extends the phenotypic spectrum of autosomal dominant CDMMS by describing microphthalmia for the first time in an autosomal dominant family. The boy was also severely mental

  12. Anthropometric and cephalometric measurements in X-linked hypohidrotic ectodermal dysplasia

    DEFF Research Database (Denmark)

    Lexner, M O; Bardow, A; Bjorn-Jorgensen, J;

    2007-01-01

    OBJECTIVE: To describe the somatic development and craniofacial morphology in males affected with hypohidrotic ectodermal dysplasia (HED) and female carriers and to find clinical markers for early clinical diagnosis of possible female carriers. DESIGN: A clinical and radiographic examination of t...

  13. Clinical and imaging characteristics of localized megalencephaly: a retrospective comparison of diffuse hemimegalencephaly and multilobar cortical dysplasia

    Energy Technology Data Exchange (ETDEWEB)

    Nakahashi, Masumi; Tsushima, Yoshito; Amanuma, Makoto; Endo, Keigo [Gunma University Graduate School of Medicine, Department of Diagnostic Radiology and Nuclear Medicine, Maebashi, Gunma (Japan); Sato, Noriko; Ota, Miho [National Center Hospital of Neurology and Psychiatry, Department of Radiology, Kodaira, Tokyo (Japan); Yagishita, Akira [Tokyo Metropolitan Neurological Hospital, Department of Neuroradiology, Kokubunji, Tokyo (Japan); Saito, Yoshiaki; Sugai, Kenji; Sasaki, Masayuki [National Center Hospital of Neurology and Psychiatry, Department of Child Neurology, Kodaira, Tokyo (Japan); Natsume, Jun [Nagoya University Graduate School of Medicine, Department of Pediatrics, Nagoya, Aichi (Japan)

    2009-12-15

    Hemimegalencephaly is a well-known congenital malformation. However, localized megalencephaly, which may be one of the subtypes of hemimegalencephaly, has not been separately investigated. In the present study, we attempted to characterize the clinical and magnetic resonance (MR) imaging features of localized megalencephaly in comparison with ordinary diffuse hemimegalencephaly and multilobar cortical dysplasia. MR findings for 43 patients with hemimegalencephaly and ten with multilobar cortical dysplasia, which is the differential diagnosis of localized megalencephaly, were retrospectively reviewed. Clinical findings such as the onset and severity of seizures and imaging findings including the affected area of the brain, structures outside of the hemisphere, and interval morphological changes were examined. Of the 43 patients, 11 showed signs of localized megalencephaly (25.6%). Localized megalencephaly was predominantly seen on the left side (72.7%) and had a tendency toward severe-grade seizures compared to multilobar cortical dysplasia. The frequencies of the extracerebral abnormalities in the diffuse hemimegalencephaly, localized megalencephaly, and multilobar cortical dysplasia groups were 84.4%, 36.4%, and 0.0%, respectively. There were three localized megalencephaly patients whose affected areas shrank and whose images were similar to those of multilobar cortical dysplasia. Localized megalencephaly accounts for one quarter of all hemimegalencephaly cases in this study. The incidence of extracerebral abnormalities in patients with localized hemimegalencephaly was almost half that of patients with diffuse hemimegalencephaly. Extracerebral abnormalities were absent in patients with multilobar cortical dysplasia. Associated extracerebral abnormalities may be a clue to differentiating localized megalencephaly from multilobar cortical dysplasia. (orig.)

  14. Dedifferentiated chondrosarcoma arising in fibrous dysplasia: A case report and review of the current literature

    Directory of Open Access Journals (Sweden)

    Nicole MD Riddle

    2009-06-01

    Full Text Available Nicole MD Riddle1, Hideko Yamauchi2, Jamie T Caracciolo4, David Johnson2, G Douglas Letson2, Ardeshir Hakam1,3, Prudence V Smith1,2,3, Marilyn M Bui1,2,31Department of Pathology and Cell Biology, University of South Florida, Tampa, FL, USA; 2Department of Sarcoma, 3Department of Anatomic Pathology, 4Department of Radiology, Moffitt Cancer Center, Tampa, FL, USABackground: Fibrous dysplasia is an uncommon bone disease that has rare but clear potential for malignant transformation. The frequency is increased in polyostotic forms, McCune–Albright syndrome, Mazabraud’s syndrome, and previously irradiated sites. Rapidly progressing pain unrelated to trauma is the most concerning symptom. The early radiological features of sarcomatous transformation are moth-eaten or cystic areas of osteolysis, cortical destruction, and gradual formation of a soft tissue mass. The prognosis is unfavorable as most of the cases are in an advanced stage at the time of diagnosis.Methods: This case was diagnosed at a large cancer center in Florida. Pertinent clinical findings were obtained from chart review and inter-departmental consultation.Results: Histopathological examination revealed dysplastic lamellar bone with no osteoblastic rimming and “Chinese letter” shapes, areas composed of lobulated hyaline cartilage with mild to severe nuclear atypia, and areas of poorly differentiated cells with a spindled appearance, consistent with chondrosarcoma arising within fibrous dysplasia.Conclusions: Sarcomatous transformation of fibrous dysplasia is an uncommon occurrence, yet has significant importance for those with the disease. There may be difficulty with diagnosis given the symptoms and radiologic findings of benign fibrous dysplasia. We report a case of chondrosarcoma rising in fibrous dysplasia and review the current literature. This case is of interest due to the fact that the diagnosis of monostotic fibrous dysplasia was first made at the age of 59 and

  15. Microsatellite alterations in phenotypically normal esophageal squamous epithelium and metaplasia-dysplasia-adenocarcinoma sequence

    Institute of Scientific and Technical Information of China (English)

    Jian-Chun Cai; Di Liu; Kai-Hua Liu; Hai-Ping Zhang; Shan Zhong; Ning-Sao Xia

    2008-01-01

    AIM: To investigate the microsatellite alterations in phenotypically normal esophageal squamous epithelium and metaplasia-dysplasia-adenocarcinoma sequence.METHODS: Forty-one specimens were obtained from esophageal cancer (EC) patients. Histopathological assessment identified 23 squamous cell carcinomas (SCC) and 18 adenocarcinomas (ADC), including only 8 ADC with Barrett esophageal columnar epithelium (metaplasia) and dysplasia adjacent to ADC. Paraffinembedded normal squamous epithelium, Barrett esophageal columnar epithelium (metaplasia), dysplasia and esophageal tumor tissues were dissected from the surrounding tissues under microscopic guidance. DNA was extracted using proteinase K digestion buffer, and DNA was diluted at 1:100, 1:1000, 1:5000, 1:10000 and 1:50000, respectively. Seven microsatellite markers (D2S123, D3S1616, D3S1300, D5S346, D17S787, D18S58 and BATRII loci) were used in this study. Un-dilution and dilution polymerase chain reactions (PCR) were performed, and microsatellite analysis was carried out.RESULTS: No statistically significant difference was found in microsatellite instability (MSI) and loss of heterozygosity (LOH) of un-diluted DNA between SCC and ADC. The levels of MSI and LOH were high in the metaplasia-dysplasia-adenocarcinoma sequence of diluted DNA. The more the diluted DNA was, the higher the rates of MSI and LOH were at the above 7 loci, especially at D3S1616, D5S346, D2S123, D3S1300 and D18S58 loci.CONCLUSION: The sequence of metaplasia-dysplasia-adenocarcinoma is associated with microsatellite alterations, including MSI and LOH. The MSI and LOH may be the early genetic events during esophageal carcinogenesis, and genetic alterations at the D3S1616, D5S346 and D3S123 loci may play a role in the progress of microsatellite alterations.

  16. Ectodermal dysplasia - Maxillary and mandibular alveolar reconstruction with dental rehabilitation: A case report and review of the literature

    Directory of Open Access Journals (Sweden)

    Deshpande Sanjeev

    2010-01-01

    Full Text Available Ectodermal dysplasia is a rare group of inherited disorders characterized by aplasia or dysplasia of tissues of ectodermal origin, such as hair, nails, teeth and skin. Dental manifestations include hypodontia, complete anodontia or malformed teeth. Oral rehabilitation is the major surgical challenge in such patients. It frequently requires alveolar reconstruction followed by dental implants. We report a case of hypohidrotic ectodermal dysplasia, which was managed with reconstruction of both the upper and the lower alveolus using free fibula flaps with dental rehabilitation using osseointegrated implants.

  17. Left Ventricular Involvement in Arrhythmogenic Right Ventricular Dysplasia/Cardiomyopathy Assessed by Echocardiography Predicts Adverse Clinical Outcome

    NARCIS (Netherlands)

    Mast, Thomas P.; Teske, Arco J.; van der Heijden, Jeroen F.; Groeneweg, Judith A.; Te Riele, Anneline S J M; Velthuis, Birgitta K.; Hauer, RNW; Doevendans, Pieter A.; Cramer, Maarten J.

    2015-01-01

    Background Among studies describing the phenotype of arrhythmogenic right ventricular dysplasia/cardiomyopathy (ARVD/C), significant discrepancy exists regarding the extent and impact of left ventricular (LV) involvement. The capability of conventional and new quantitative echocardiographic techniqu

  18. Cranial acetabular retroversion is common in developmental dysplasia of the hip as assessed by the weight bearing position

    DEFF Research Database (Denmark)

    Troelsen, Anders; Mikkelsen, Lone Rømer; Jacobsen, Steffen;

    2010-01-01

    The appearance of acetabular version differs between the supine and weight bearing positions in developmental dysplasia of the hip. Weight bearing radiographic evaluation has been recommended to ensure the best coherence between symptoms, functional appearance, and hip deformities. Previous preva...

  19. Fibrous dysplasia associated with primary hyperparathyroidism absent of McCune-albright syndrome: Tc-99m MDP findings

    Energy Technology Data Exchange (ETDEWEB)

    Kim, Seong Jang; Seok, Ju Won; Kim, In Ju; Kim, Yong Ki; Kim, Dong Soo [Pusan National University College of Medicine, Pusan (Korea, Republic of)

    2003-04-01

    Fibrous dysplasia is a chronic disorder of the skeleton that causes expansion of one or more bones due to abnormal development of the fibrous, or connective tissue within the bone. The abnormality will cause uneven growth, brittleness and deformity in affected bones. Some patients have only one bone affected, whereas other patients have numerous bones affected. While any bone can be affected by fibrous dysplasia, the most common sites of the disease are the femur, tibia, ribs, skull, facial bones, humerus, and pelvis. In conclusion, Tc-99m MDP bone scan as well as Tc-99m MIBI scan may be useful for the detection of fibrous dysplasia. Also, factors responsible for the uptake of MIBI by fibrous dysplasia will need to be studied further.

  20. Characterisation of colonic dysplasia-like epithelial atypia in murine colitis

    Science.gov (United States)

    Randall-Demllo, Sarron; Fernando, Ruchira; Brain, Terry; Sohal, Sukhwinder Singh; Cook, Anthony L; Guven, Nuri; Kunde, Dale; Spring, Kevin; Eri, Rajaraman

    2016-01-01

    AIM To determine if exacerbation of pre-existing chronic colitis in Winnie (Muc2 mutant) mice induces colonic dysplasia. METHODS Winnie mice and C57BL6 as a genotype control, were administered 1% w/v dextran sulphate sodium (DSS) orally, followed by drinking water alone in week-long cycles for a total of three cycles. After the third cycle, mice were killed and colonic tissue collected for histological and immunohistochemical evaluation. Inflammation and severity of dysplasia in the colonic mucosa were assessed in H&E sections of the colon. Epithelial cell proliferation was assessed using Ki67 and aberrant β-catenin signalling assessed with enzyme-based immunohistochemistry. Extracted RNA from colonic segments was used for the analysis of gene expression using real-time quantitative PCR. Finally, the distribution of Cxcl5 was visualised using immunohistochemistry. RESULTS Compared to controls, Winnie mice exposed to three cycles of DSS displayed inflammation mostly confined to the distal-mid colon with extensive mucosal hyperplasia and regenerative atypia resembling epithelial dysplasia. Dysplasia-like changes were observed in 100% of Winnie mice exposed to DSS, with 55% of these animals displaying changes similar to high-grade dysplasia, whereas high-grade changes were absent in wild-type mice. Occasional penetration of the muscularis mucosae by atypical crypts was observed in 27% of Winnie mice after DSS. Atypical crypts however displayed no evidence of oncogenic nuclear β-catenin accumulation, regardless of histological severity. Expression of Cav1, Trp53 was differentially regulated in the distal colon of Winnie relative to wild-type mice. Expression of Myc and Ccl5 was increased by DSS treatment in Winnie only. Furthermore, increased Ccl5 expression correlated with increased complexity in abnormal crypts. While no overall difference in Cxcl5 mucosal expression was observed between treatment groups, epithelial Cxcl5 protein appeared to be diminished in the

  1. Management of developmental dysplasia of the hip in less than 24 months old children

    Directory of Open Access Journals (Sweden)

    Mehmet Bulut

    2013-01-01

    Full Text Available Background: There is no consensus on the treatment of developmental dysplasia of the hip in children less than 24 months of age. The aim of this study was to present the results of open reduction and concomitant primary soft-tissue intervention in patients with developmental dysplasia of the hip in children less than 24 months of age. Materials and Methods: Sixty hips of 50 patients (4 male, 46 female with mean age of 14.62 ± 5.88 (range 5-24 months months with a mean followup of 40.00 ± 6.22 (range 24-58 months months were included. Twenty five right and 35 left hips (10 bilaterally involved were operated. Open reduction was performed using the medial approach in patients aged < 20 months (with Tönnis type II-III and IV hip dysplasias and for those aged 20-24 months with Tönnis type II and III hip dysplasias ( n = 47. However for 13 patients aged 20-24 months with Tönnis type IV hip dysplasias, anterior bikini incision was used. Results: Mean acetabular index was 41.03 ± 3.78° (range 34°-50° in the preoperative period and 22.98 ± 3.01° (range 15°-32° at the final visits. Mean center-edge angle at the final visits was 22.85 ± 3.35° (18°-32°. Based on Severin radiological classification, 29 (48.3% were type I (very good, 25 (41.7% were type II (good and 6 (10% were type III (fair hips. According to the McKay clinical classification, postoperatively the hips were evaluated as excellent ( n = 42; 70%, good ( n = 14; 23.3% and fair ( n = 4; 6.7%. Reduction of all hip dislocations was achieved. Additional pelvic osteotomies were performed in 14 (23.3% hips for continued acetabular dysplasia and recurrent subluxation. (Salter [ n = 12]/Pemberton [ n = 2] osteotomy was performed. Avascular necrosis (AVN developed in 7 (11.7% hips. Conclusion: In DDH only soft-tissue procedures are not enough, because of the high rate of the secondary surgery and AVN for all cases aged less than 24 months. Bone procedures may be necessary in the walking

  2. Clinical significance and molecular characterization of nonsporulating molds isolated from the respiratory tracts of bronchopulmonary mycosis patients with special reference to basidiomycetes.

    Science.gov (United States)

    Singh, Pradeep Kumar; Kathuria, Shallu; Agarwal, Kshitij; Gaur, Shailendra Nath; Meis, Jacques F; Chowdhary, Anuradha

    2013-10-01

    Nonsporulating molds (NSMs), especially basidiomycetes, have predominantly been reported as human pathogens responsible for allergic and invasive disease. Their conventional identification is problematic, as many isolates remain sterile in culture. Thus, inconclusive culture reports might adversely affect treatment decisions. The clinical significance of NSMs in pulmonary mycoses is poorly understood. We sequenced the internal transcribed spacer (ITS) region and D1/D2 domain of the larger subunit (LSU) of 52 NSMs isolated from respiratory specimens. The basidiomycetes were the predominant NSMs, of which Schizophyllum commune was the most common agent in allergic bronchopulmonary mycosis (ABPM), followed by Ceriporia lacerata in invasive fungal disease. Porostereum spadiceum, Phanaerochaete stereoides, Neosartorya fischeri, and Marasmiellus palmivorus were the other molds observed. Application of ITS and LSU region sequencing identified 92% of the isolates. The antifungal susceptibility data revealed that all basidiomycetes tested were susceptible to amphotericin B and resistant to caspofungin, fluconazole, and flucytosine. Except for 3 isolates of S. commune and a solitary isolate of M. palmivorus, all basidiomycetes had low MICs for itraconazole, posaconazole, and voriconazole. Basidiomycetes were isolated from patients with ABPM, invasive pulmonary mycosis/pneumonia, or fungal balls. In addition, the majority of the basidiomycetes were isolated from patients with chronic respiratory disorders who were sensitized to one of the basidiomycetous fungi and demonstrated precipitating antibodies against the incriminating fungi, indicating an indolent tissue reaction. Thus, isolation of basidiomycetes from the lower respiratory tract could be significant, and it is important to monitor these patients in order to prevent subsequent lung damage.

  3. 支气管肺蠊缨滴虫病的临床诊治进展%Clinical diagnostic and therapeutic progress on bronchopulmonary Lophomonas blattarum infection

    Institute of Scientific and Technical Information of China (English)

    姚国忠

    2009-01-01

    支气管肺蠊缨滴虫感染是一种新的寄生虫疾病,1993年至2008年国内共确诊48例,临床诊断和治疗有一定进展,但蠊缨滴虫感染病例的临床表现缺少特征性,蠊缨滴虫自然宿主、传播途径、流行区域及致病机制等多个方面也尚不明确,其生物学分类地位也有争议,国内还没有建立抗原抗体检测或分子生物学鉴定方法.%Bronchopulmonary Lophomonas blattarum infection is a new emerging disease. Forty-eight cases were reported in the period of 1993-2008, and clinical diagnosis and treatment had been made a little progress. But the clinical manifestatiog of this disease might not be easily distinguished among other pulmonary infections,and the problems of natural host, transmission routes, epidemic area and pathogenic mechanism are not understood. There are different opinions about the taxonomic status of the protozoa. Detection methods with Lophomonas blattarum based on antigen/antibody interaction or molecular biology have not been established up to now.

  4. Mitochondrial transcription factor A (Tfam) gene sequencing and mitochondrial evaluation in inherited retinal dysplasia in miniature schnauzer dogs

    OpenAIRE

    Bauer, Bianca S.; Forsyth, George W.; Sandmeyer, Lynne S.; Grahn, Bruce H.

    2011-01-01

    Mitochondrial transcription factor A (Tfam) has been implicated in the pathogenesis of retinal dysplasia in miniature schnauzer dogs and it has been proposed that affected dogs have altered mitochondrial numbers, size, and morphology. To test these hypotheses the Tfam gene of affected and normal miniature schnauzer dogs with retinal dysplasia was sequenced and lymphocyte mitochondria were quantified, measured, and the morphology was compared in normal and affected dogs using transmission elec...

  5. Oral fibroma with HPV-associated epithelial dysplasia: even in fibromas you should look for the unexpected.

    Science.gov (United States)

    Argyris, Prokopios P; Koutlas, Ioannis G

    2014-05-01

    Fibromas are the most common soft tissue lesions of the oral cavity and are generally attributed to trauma. Koilocytic dysplasia refers to human papillomavirus (HPV)-related epithelial cytopathic effect. Koilocytic dysplasia is considered neoplastic. Herein, we report a case of oral fibroma with HPV-induced dysplastic changes of the surface epithelium confirmed by immunohistochemical stains for p16 and p53 as well as HPV in situ hybridization.

  6. [Real-time sonography of the infant hip joint in the early diagnosis of congenital hip dysplasia].

    Science.gov (United States)

    Casser, H R; Forst, R

    1985-01-01

    The ultrasonic examination of infant hip joint means a great advantage in early diagnosis of congenital hip dysplasia. The sonographic type classification by Graf enables the experienced examiner to make up a differentiated diagnostic-therapeutic concept as early as possible. Therapeutic omissions just as well as exaggerated therapeutic measures can be avoided. Consequently the prognosis of hip joint dysplasia is considerably improved by ultrasonic examination of new-born hip joints.

  7. Immunohistochemical Correlation of Matrix Metalloproteinase-2 and Tissue Inhibitors of Metalloproteinase-2 in Tobacco Associated Epithelial Dysplasia

    Directory of Open Access Journals (Sweden)

    Dipshikha Bajracharya

    2014-01-01

    Full Text Available Aim. To study the immunohistochemical expression of matrix metalloproteinase and tissue inhibitors of matrix metalloproteinase-2 in different histological grades of tobacco associated epithelial dysplasia and correlate the association between these proteases. Potentially malignant oral disorders (PMODs progressing to oral cancer are related to the severity of epithelial dysplasia. Methods. A retrospective immunohistochemical study was carried out on 30 clinically and histologically proven cases of leukoplakia with dysplasia and 10 cases of normal buccal mucosa using anti-MMP-2 and anti-TIMP-2 monoclonal antibodies. Results. Mann Whitney U test, for comparing the expression of both MMP-2 and TIMP-2 in normal mucosa with dysplasia, was highly significant (P<0.001. Kruskal-Wallis test to compare the median score of MMP-2 and TIMP-2 in different grades of dysplasia showed statistical significance (P<0.001, and a Spearman’s correlation between MMP-2 and TIMP-2 through different grades of dysplasia and cells observed showed positive correlation. Conclusion. Concomitant increase in the expression of both MMP-2 and TIMP-2 suggested that the activation of MMP-2 is dependent on TIMP-2 acting as a cofactor. Changes in TIMP-2 levels are considered important because they directly affect the level of MMP-2 activity.

  8. Unexpected finding of elevated glucose uptake in fibrous dysplasia mimicking malignancy: contradicting metabolism and morphology in combined PET/CT

    Energy Technology Data Exchange (ETDEWEB)

    Stegger, Lars; Weckesser, Matthias [University Hospital of Muenster, Department of Nuclear Medicine (Germany); Juergens, Kai U.; Wormanns, Dag [University Hospital of Muenster, Department of Clinical Radiology (Germany); Kliesch, Sabine [University Hospital of Muenster, Department of Urology (Germany)

    2007-07-15

    Fibrous dysplasia is a common benign disorder of bone in which fibro-osseous tissue replaces bone spongiosa. Lesions have a typical appearance on computed tomography (CT) images and regularly show a markedly increased uptake in bone scintigraphy using {sup 99m}Tc-labelled methylene diphosphonate ({sup 99m}Tc-MDP) as radiotracer. The glucose avidity of these lesions depicted by positron emission tomography (PET) using the radiolabelled glucose derivative {sup 18}F-fluoro-2-deoxy-glucose (FDG) is less well known since FDG-PET does not have a role in the assessment of this disease. However, single cases have been reported in which fibrous dysplasia was present in patients undergoing FDG-PET scanning for oncological reasons, and no significant FDG uptake was observed for lesions identified as fibrous dysplasia. We report on a 24-year-old man with known fibrous dysplasia who underwent combined FDG-PET/CT scanning because of suspected recurrence of testicular cancer. In contrast to prior reports, a markedly elevated uptake of FDG was seen in numerous locations that were identified as fibrous dysplasia by CT. Based on this result, we conclude that fibrous dysplasia may mimick malignancy in FDG-PET and that coregistered CT may help to resolve these equivocal findings. (orig.)

  9. ACETABULAR ROTATION OSTEOTOMY IN THE TREATMENT OF ACETABULAR DYSPLASIA IN ADULTS

    Institute of Scientific and Technical Information of China (English)

    杨庆铭; 蒋垚; 孙争鸣; 钱不凡

    1993-01-01

    Acetabular dysplasia is one of the most important reasons for development ofsecondary osteoarthrosis of the hip joint. This paper introduced a method of modifiedWagner’s procedure, called acetabular rotation osteotomy for the treatment of severeacetabular dysplasia in ten adults patients. These were followed up for 1-4 years. Fivecriteria including pain, gait, range of motion, measurement of roentgenographic changees,and CT scan were evaluated. From the limited information of this paper, it showed thatin all cases pain improved and range of motion did not reduced significantly. Comparingthe pre- and post-operative x-ray films, CE angle increased and exceeded the normal val-ue. Tonnis hip value decreased and approached the normal value, anteversion of theacetabulum improved, and the percentage of acetabular coverage increased as well.

  10. Adult hip dysplasia and osteoarthritis. Studies in radiology and clinical epidemiology

    DEFF Research Database (Denmark)

    Jacobsen, Steffen

    2006-01-01

    Osteoarthritis (OA) presupposes the interaction of systemic and/or local factors. In hip joint OA, congenital or developmental malformation is believed to constitute an individual risk factor for premature degeneration. Hip dysplasia (HD) is such a malformation. The radiological and epidemiological...... studies had several aims: To critically evaluate the radiological source material of the Copenhagen Heart Study: The Osteoarthritis Substudy, consisting of 4,151 standardized, weight bearing pelvic radiographs recorded 1991-1994. To qualify or disqualify the radiological source material for further...... to be a significant risk factor for hip OA in men. However, only obesity was found to determine an event of hip replacement surgery. In a longitudinal study of 81 subjects and with mild or moderate hip dysplasia followed for a decade we did not document a tendency for radiological degeneration compared to 136 control...

  11. Radiographic diagnosis of a rare case of oculo-dento-digital dysplasia

    Directory of Open Access Journals (Sweden)

    Umesh Chandra Parashari

    2011-12-01

    Full Text Available Oculodentodigital dysplasia (ODDD, also known as oculodento-osseous dysplasia, is an extremely rare autosomal dominant disorder with high penetrance, intra- and interfamilial phenotypic variability, and advanced paternal age in sporadic cases. The incidence of this disease is not precisely known, with only 243 cases reported in the scientific literature, suggesting an incidence of around 1 in 10 million people. It is marked mainly by eye abnormalities, craniofacial dysmorphism, dental anomalies, hand and foot malformations, various skeletal defects, and mildly delayed mental development. Neurological changes may appear earlier in each subsequent generation. This case report describes a radiological diagnosis of ODDD based on physical appearance, clinical features and radiographic findings in a 16-year-old girl.

  12. Prosthetic rehabilitation of a child affected from anhydrotic ectodermal dysplasia: a case report.

    Science.gov (United States)

    Lo Muzio, Lorenzo; Bucci, Paolo; Carile, Francesco; Riccitiello, Francesco; Scotti, Claudio; Coccia, Erminia; Rappelli, Giorgio

    2005-08-15

    The aim of this clinical report is to describe the management of a young patient, affected by ectodermal dysplasia, during a nine-year period. Dental treatment can vary depending on the severity of the disease (tooth size, morphology, and amount of available alveolar bone). New technologies, such as adhesive dentistry, and new materials, such as composite resin, represent current options in the management of the dental rehabilitation of patients affected by ectodermal dysplasia. Removable partial dentures were used to replace congenitally missing teeth, and composite resin materials were used to restore conical-shaped maxillary teeth to achieve a favorable esthetic result. This option minimized the sacrifice of healthy dental tissue. Prosthodontic and restorative treatment was provided for the psychological and social comfort of the young patient.

  13. Stem-cell-specific endocytic degradation defects lead to intestinal dysplasia in Drosophila

    Directory of Open Access Journals (Sweden)

    Péter Nagy

    2016-05-01

    Full Text Available UV radiation resistance-associated gene (UVRAG is a tumor suppressor involved in autophagy, endocytosis and DNA damage repair, but how its loss contributes to colorectal cancer is poorly understood. Here, we show that UVRAG deficiency in Drosophila intestinal stem cells leads to uncontrolled proliferation and impaired differentiation without preventing autophagy. As a result, affected animals suffer from gut dysfunction and short lifespan. Dysplasia upon loss of UVRAG is characterized by the accumulation of endocytosed ligands and sustained activation of STAT and JNK signaling, and attenuation of these pathways suppresses stem cell hyperproliferation. Importantly, the inhibition of early (dynamin-dependent or late (Rab7-dependent steps of endocytosis in intestinal stem cells also induces hyperproliferation and dysplasia. Our data raise the possibility that endocytic, but not autophagic, defects contribute to UVRAG-deficient colorectal cancer development in humans.

  14. Colonoscopy surveillance for dysplasia and colorectal cancer in patients with inflammatory bowel disease

    DEFF Research Database (Denmark)

    Aalykke, Claus; Jensen, Michael Dam; Fallingborg, Jan;

    2015-01-01

    The risk of colorectal cancer (CRC) and dysplasia in patients with inflammatory bowel disease (IBD) has been highly debated as risk estimates from different studies vary greatly. The present national Danish guideline on colonoscopy surveillance for dysplasia and colorectal cancer in patients......, in some subgroups of patients the risk is increased. These subgroups of patients, who should be offered colonoscopy surveillance, include patients with ulcerative colitis having extensive disease and a long disease duration (10-13 years); early age at onset (less than 19 years of age) of ulcerative...... colitis; and patients with ulcerative colitis as well as Crohn´s disease with a concomitant diagnosis of primary sclerosing cholangitis. A colonoscopy surveillance program is recommended in these subgroups with intervals ranging from every 3-6 months to every 5 years, using chromoendoscopy with targeted...

  15. Cytopenia and Bone Marrow Dysplasia in a Case of Wilson's Disease.

    Science.gov (United States)

    Rau, Aarathi R; Usha, M; Mallya, Pooja; Rau, A T K

    2014-09-01

    We describe a sixteen year old with Wilson's disease on copper chelation and subsequent high dose oral zinc who developed severe anemia and neutropenia. Bone marrow aspirate done to evaluate the cause of bicytopenia revealed trilineage dysplasia. Correlating the clinical context with bone marrow and biochemical parameters, copper deficiency was suspected and he was given a trial of therapy, following which the hematological parameters improved. This case highlights hypocupremia as a reversible cause of bone marrow dysplasia in patients with Wilson's disease on chelation, where serum copper levels are not useful in the diagnosis. We also believe that monitoring of the blood counts in patients on copper chelation may provide a clue to impending copper deficiency.

  16. Intrauterine Growth Restriction Associated with Hematologic Abnormalities: Probable Manifestations of Placental Mesenchymal Dysplasia

    Science.gov (United States)

    Martinez-Payo, Cristina; Bernabeu, Rocio Alvarez; Villar, Isabel Salas; Goy, Enrique Iglesias

    2015-01-01

    Introduction Placental mesenchymal dysplasia is a rare vascular disease associated with intrauterine growth restriction, fetal demise as well as Beckwith–Wiedemann syndrome. Some neonates present hematologic abnormalities possibly related to consumptive coagulopathy and hemolytic anemia in the placental circulation. Case report We present a case of placental mesenchymal dysplasia in a fetus with intrauterine growth restriction and cerebellar hemorrhagic injury diagnosed in the 20th week of pregnancy. During 26th week, our patient had an intrauterine fetal demise in the context of gestational hypertension. We have detailed the ultrasound findings that made us suspect the presence of hematologic disorders during 20th week. Discussion We believe that the cerebellar hematoma could be the consequence of thrombocytopenia accompanied by anemia. If hemorrhagic damage during fetal life is found, above all associates with an anomalous placental appearance and with intrauterine growth restriction, PMD should be suspected along other etiologies. PMID:26495159

  17. Novel WISP3 mutations causing spondyloepiphyseal dysplasia tarda with progressive arthropathy in two unrelated Chinese families.

    Science.gov (United States)

    Liu, Limin; Li, Nan; Zhao, Zhen; Li, Wei; Xia, Weibo

    2015-03-01

    Spondyloepiphyseal dysplasia tarda with progressive arthropathy (SEDT-PA) is an autosomal recessive skeletal disorder resulting from pathogenic mutations in the Wnt1-inducible signaling pathway protein 3 (WISP3) gene. This disorder predominantly involves the skeletal system, with the leading features of platyspondyly, metaphyseal dysplasia of limbs and extremities, and progressive degeneration of joints. To date, 53 distinct forms of WISP3 mutations have been detected globally, eleven of which originated from Chinese patients. In the current study, we reported the clinical manifestations and radiographic features of two unrelated Chinese SEDT-PA patients. Through genetic analysis, two novel mutations (c.624delA, c.105dupT) as well as one recurrent mutation (c.342T>G) were identified in the WISP3 gene. Our study contributed to the further expansion of the WISP3 mutation spectrum, and demonstrated the genotype-phenotype relationship between mutations in the WISP3 gene and clinical findings of SEDT-PA.

  18. Inflammatory myofibroblastic tumor appendix with concomitant mucosal dysplasia, simulating pseudomyxoma on preoperative aspiration cytology

    Directory of Open Access Journals (Sweden)

    Kaushik Majumdar

    2012-01-01

    Full Text Available Inflammatory myofibroblastic tumor (IMT has been described as a pseudosarcomatous proliferation of spindled myofibroblasts admixed with lymphoplasmacytic cells. The various terminologies like inflammatory pseudotumor, plasma cell granuloma, and inflammatory myofibrohistiocytic proliferation, used to describe this entity, highlight the controversial etiopathogenesis of this relatively indolent neoplasm. IMT has now been described in different anatomic locations. However, cases occurring in the gastrointestinal tract are rare with very few cases described in the appendix. We present a case of inflammatory myofibroblastic tumor appendix with mucosal dysplasia in a 41-year-old male, presenting with abdominal pain and lump in the right iliac fossa. Aspiration cytology yielded few atypical epithelial cells and spindle cells in a mucinous background, suggesting the possibility of pseudomyxoma peritonei. Awareness of IMT appendix with rare presence of mucosal dysplasia may help in preventing overzealous resection, especially in situations that on preoperative evaluation may suggest malignancy.

  19. Management of ischemic deformity after the treatment of developmental dysplasia of the hip.

    Science.gov (United States)

    Cech, Oldrich; Vávra, Jaroslav; Zídka, Michal

    2005-01-01

    Long-term results of 69 hip operations for deformities due to avascular necrosis following the conservative treatment of the hip dysplasia were evaluated. The authors' technique of intertrochanteric valgus osteotomy allows for simultaneously handling of varus deformity and shortening of the femoral neck, fusion of the greater trochanter, and correction of increased femoral anteversion, if necessary. This type of surgery was used in children with Buchholz-Ogden type III deformity starting from 3 years of age until adolescence. Patients were followed for an average of 19.3 years. Eighty-seven percent had no marked limitation in range of motion and 57% were free of complaints. Trendelenburg gait was present in only six patients. Radiographs of all patients showed improvement of coxometric values. Acetabular dysplasia was handled in 29 patients with a subsequent shelf arthroplasty. Total hip arthroplasty for hip degeneration was not indicated for any of the patients to date.

  20. Bent bone dysplasia (BBD)-FGFR2 type: the radiologic manifestations in early gestation

    Energy Technology Data Exchange (ETDEWEB)

    Handa, Atsuhiko; Okajima, Yuka; Kurihara, Yasuyuki [St. Luke' s International Hospital, Department of Radiology, Tokyo (Japan); Izumi, Noriko; Yamanaka, Michiko [St. Luke' s International Hospital, Department of Integrated Women' s Health, Tokyo (Japan)

    2016-02-15

    Bent bone dysplasia-fibroblast growth factor receptor 2 type (BBD-FGFR2) is a recently identified skeletal dysplasia caused by specific FGFR2 mutations, characterized by craniosynostosis and prenatal bowing of the long bones. Only a few cases have been published. We report an affected fetus terminated at 21 weeks of gestation. The clinical and radiologic manifestations mostly recapitulate previous descriptions; however we suggest additional hallmarks of this disorder in early gestation. These hallmarks include distinctive short, thick clavicles and wavy ribs, as well as vertebral bodies that showed striking anteroposterior shortening. Femoral fractures were also present in our case. Although craniosynostosis is a hallmark of the disease, clinicians should be aware that craniosynostosis might not be readily apparent on plain films early in gestation. (orig.)