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Sample records for bronchopulmonary dysplasia

  1. Displasia broncopulmonar Bronchopulmonary dysplasia

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    Luciana F. Velloso Monte

    2005-04-01

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

  2. Ureaplasma and bronchopulmonary dysplasia.

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    Gancia, Paolo; Delogu, Antonio; Pomero, Giulia

    2014-03-01

    Advances in neonatal intensive care have greatly improved survival rates for children born in a very early stage of lung development (i.e. less than 26 weeks of gestation). In these premature babies, even low levels of oxygen and methods of minimally invasive ventilation may disrupt the growth of the distal airways, a condition described as "new" bronchopulmonary dysplasia (BPD). Ureaplasma infection can occur in utero or in the perinatal period in premature infants, in some of which the infection with these organisms triggers an important lung pro-inflammatory and pro-fibrotic response, and may increase the risk of developing BPD. The inflammation may be worsened by exposure to oxygen and mechanical ventilation. At present, clinical studies have not clarified the role of Ureaplasma in the pathogenesis of BPD and there is insufficient evidence to determine whether antibiotic treatment of Ureaplasma has influence on the development of BPD and its comorbidities. Future research in the context of well-designed and controlled clinical trials of adequate statistical power should focus on how to determine whether the treatment of Ureaplasma decreases lung inflammation, reduces rates of BPD, and improves long-term neurodevelopment. Copyright © 2014 Elsevier Ireland Ltd. All rights reserved.

  3. Managing Children with Bronchopulmonary Dysplasia

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    A. A. Baranov

    2016-01-01

    Full Text Available Bronchopulmonary dysplasia is one of the most significant early childhood chronic respiratory diseases. The article features modern approaches to preventing, diagnosing and treating broncho-pulmonary dysplasia, as well as ways of preventing complications and undesirable disease outcomes in patients older than 3 years. Members of professional associations — Union of Pediatricians of Russia and Russian Association of Perinatal Medicine Specialists — have summarized the experience of managing this category of patients at leading Russian pediatric centers according to the principles of evidence-based medicine and have provided scientific and practical data corresponding to the world level of knowledge with regard to the present problem.

  4. [Bronchopulmonary dysplasia: definitions and classifications].

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    Sánchez Luna, M; Moreno Hernando, J; Botet Mussons, F; Fernández Lorenzo, J R; Herranz Carrillo, G; Rite Gracia, S; Salguero García, E; Echaniz Urcelay, I

    2013-10-01

    Bronchopulmonary dysplasia is the most common sequelae related to very low birth weight infants, mostly with those of extremely low birth weight. Even with advances in prevention and treatment of respiratory distress syndrome associated with prematurity, there is still no decrease in the incidence in this population, although a change in its clinical expression and severity has been observed. There are, however, differences in its frequency between health centres, probably due to a non-homogeneously used clinical definition. In this article, the Committee of Standards of the Spanish Society of Neonatology wishes to review the current diagnosis criteria of bronchopulmonary dysplasia to reduce, as much as possible, these inter-centre differences. Copyright © 2013 Asociación Española de Pediatría. Published by Elsevier Espana. All rights reserved.

  5. Mechanical Ventilation and Bronchopulmonary Dysplasia.

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    Keszler, Martin; Sant'Anna, Guilherme

    2015-12-01

    Mechanical ventilation is an important potentially modifiable risk factor for the development of bronchopulmonary dysplasia. Effective use of noninvasive respiratory support reduces the risk of lung injury. Lung volume recruitment and avoidance of excessive tidal volume are key elements of lung-protective ventilation strategies. Avoidance of oxidative stress, less invasive methods of surfactant administration, and high-frequency ventilation are also important factors in lung injury prevention. Copyright © 2015 Elsevier Inc. All rights reserved.

  6. Hypoxic Episodes in Bronchopulmonary Dysplasia.

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    Martin, Richard J; Di Fiore, Juliann M; Walsh, Michele C

    2015-12-01

    Hypoxic episodes are troublesome components of bronchopulmonary dysplasia (BPD) in preterm infants. Immature respiratory control seems to be the major contributor, superimposed on abnormal respiratory function. Relatively short respiratory pauses may precipitate desaturation and bradycardia. This population is predisposed to pulmonary hypertension; it is likely that pulmonary vasoconstriction also plays a role. The natural history has been well-characterized in the preterm population at risk for BPD; however, the consequences are less clear. Proposed associations of intermittent hypoxia include retinopathy of prematurity, sleep disordered breathing, and neurodevelopmental delay. Future study should address whether these associations are causal relationships. Copyright © 2015 Elsevier Inc. All rights reserved.

  7. Lung volume reduction surgery in bronchopulmonary dysplasia.

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    Siaplaouras, J; Heckmann, M; Reiss, I; Schaible, T; Waag, K L; Gortner, L

    2003-06-01

    We report on a female preterm infant of 29 wk gestational age, who developed acquired lobar emphysema after prolonged artificial ventilation secondary to respiratory disease syndrome and bronchopulmonary dysplasia. The infant underwent atypical segmentectomy at the age of 12 mo because of life-threatening hypoxaemia with pulmonary hypertension and failure of conservative treatment. Lung volume reduction surgery (LVRS) dramatically improved the respiratory function and resulted in adequate weight gain and psychomotor development. In selected cases LVRS can be an option for lobar emphysema in premature infants with severe bronchopulmonary dysplasia.

  8. Ureaplasma urealyticum colonization, prematurity and bronchopulmonary dysplasia

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    vanWaarde, WM; Brus, F; Okken, A; Kimpen, JLL

    The aim of the present study was to determine the association between the presence of Ureaplasma urealyticum in endotracheal aspirates and bronchopulmonary dysplasia (BPD). In addition, a review of similar studies from the English literature is presented. During the period February 1990 until March

  9. Appropriate fluid regimens to prevent bronchopulmonary dysplasia.

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    Tammela, O K

    1995-01-01

    Pulmonary oedema is an important problem in premature neonates with surfactant deficiency because of fluid accumulation in the lung interstitium and reduced urine output. Some retrospective reports suggest that excessive early hydration might increase the risk of bronchopulmonary dysplasia (BPD). Only three prospective studies evaluating low or conventional fluid administration regimens to very low birth weight infants have been published. According to their results no significant differences in the incidence of BPD have been shown. However, fluid restriction seems to improve the outcome of the infants because of decreased incidence of haemodynamically significant patent ductus arteriosus, necrotizing enterocolitis, pulmonary air leaks and decreased mortality. The appropriate amount of sodium in the intravenous fluids during the first days of life needs further evaluation. In tiny infants with birth weights from 500 to 800g intensive monitoring of fluid balance is essential to control the extremely high fluid losses due to evaporation. Undernutrition is a risk factor of BPD and therefore it is important to start parenteral nutrition early. The benefit of the use of colloids as volume expanders is controversial. According to some retrospective reports there might be an association with increased use of colloidal fluids during the first days of life and the development of BPD. Early excessive fluid administration might constitute a potential risk for low birth weight infants with hyaline membrane disease.(ABSTRACT TRUNCATED AT 250 WORDS)

  10. Bronchopulmonary Dysplasia and Ureaplasma : What Do We Know So Far?

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    De La Haye, Nicole; Hütten, Matthias C.; Kunzmann, Steffen; Kramer, Boris W.

    2017-01-01

    Bronchopulmonary dysplasia (BPD) is the most common morbidity of prematurity. BPD is a chronic respiratory disease related to lung-injury during the primary course of critical lung disease such as respiratory distress syndrome or when abnormal development of the preterm lung occurs. Abnormal lung

  11. Respiratory Phenotypes for Preterm Infants, Children, and Adults: Bronchopulmonary Dysplasia and More.

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    Collaco, Joseph M; McGrath-Morrow, Sharon A

    2018-05-01

    Ongoing advancements in neonatal care since the late 1980s have led to increased numbers of premature infants surviving well beyond the neonatal period. As a result of increased survival, many individuals born preterm manifest chronic respiratory symptoms throughout infancy, childhood, and adult life. The archetypical respiratory disease of prematurity, bronchopulmonary dysplasia, is the second most common chronic pediatric respiratory disease after asthma. However, there are several commonly held misconceptions. These misconceptions include that bronchopulmonary dysplasia is rare, that bronchopulmonary dysplasia resolves within the first few years of life, and that bronchopulmonary dysplasia does not impact respiratory health in adult life. This focused review describes a spectrum of respiratory conditions that individuals born prematurely may experience throughout their lifespan. Specifically, this review provides quantitative estimates of the number of individuals with alveolar, airway, and vascular phenotypes associated with bronchopulmonary dysplasia, as well as non-bronchopulmonary dysplasia respiratory phenotypes such as airway malacia, obstructive sleep apnea, and control of breathing issues. Furthermore, this review illustrates what is known about the potential for progression and/or lack of resolution of these respiratory phenotypes in childhood and adult life. Recognizing the spectrum of respiratory phenotypes associated with individuals born preterm and providing comprehensive and personalized care to these individuals may help to modulate adverse respiratory outcomes in later life.

  12. The economic impact of prematurity and bronchopulmonary dysplasia.

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

    2017-12-01

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

  13. Nutrition of preterm infants in relation to bronchopulmonary dysplasia

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    Tschirch Edda

    2011-02-01

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

  14. 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.

  15. Executive functioning deficits in young adult survivors of bronchopulmonary dysplasia.

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    Gough, Aisling; Linden, Mark A; Spence, Dale; Halliday, Henry L; Patterson, Christopher C; McGarvey, Lorcan

    2015-01-01

    To assess long-term impairments of executive functioning in adult survivors of bronchopulmonary dysplasia (BPD). Participants were assessed on measures of executive functioning, health-related quality of life (HRQoL) and social functioning. Survivors of BPD (n = 63; 34 males; mean age 24.2 years) were compared with groups comprising preterm (without BPD) (executive functioning relating to problem solving (OR: 5.1, CI: 1.4-19.3), awareness of behavior (OR: 12.7, CI: 1.5-106.4) and organization of their environment (OR: 13.0, CI: 1.6-107.1). Birth weight, HRQoL and social functioning were predictive of deficits in executive functioning. This study represents the largest sample of survivors into adulthood of BPD and is the first to show that deficits in executive functioning persist. Children with BPD should be assessed to identify cognitive impairments and allow early intervention aimed at ameliorating their effects. Implications for Rehabilitation Adults born preterm with very-low birth weight, and particularly those who develop BPD, are at increased risk of exhibiting defects in executive functioning. Clinicians and educators should be made aware of the impact that BPD can have on the long-term development of executive functions. Children and young adults identified as having BPD should be periodically monitored to identify the need for possible intervention.

  16. [Guidelines for the follow up of patients with bronchopulmonary dysplasia].

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    Pérez Tarazona, S; Rueda Esteban, S; Alfonso Diego, J; Barrio Gómez de Agüero, M I; Callejón Callejón, A; Cortell Aznar, I; de la Serna Blázquez, O; Domingo Miró, X; García García, M L; García Hernández, G; Luna Paredes, C; Mesa Medina, O; Moreno Galdó, A; Moreno Requena, L; Pérez Pérez, G; Salcedo Posadas, A; Sánchez Solís de Querol, M; Torrent Vernetta, A; Valdesoiro Navarrete, L; Vilella Sabaté, M

    2016-01-01

    Bronchopulmonary dysplasia (BPD) is the most common complication of preterm birth, and remains a major problem in pediatric pulmonology units. The decision of discharging from the Neonatal Unit should be based on a thorough assessment of the condition of the patient and compliance with certain requirements, including respiratory and nutritional stability, and caregiver education on disease management. For proper control of the disease, a schedule of visits and complementary tests should be established prior to discharge, and guidelines for prevention of exacerbations and appropriate treatment should be applied. In this paper, the Working Group in Perinatal Respiratory Diseases of the Spanish Society of Pediatric Pulmonology proposes a protocol to serve as a reference for the follow up of patients with BPD among different centers and health care settings. Key factors to consider when planning discharge from the Neonatal Unit and during follow up are reviewed. Recommendations on treatment and prevention of complications are then discussed. The final section of this guide aims to provide a specific schedule for follow-up and diagnostic interventions to be performed in patients with BPD. Copyright © 2015 Asociación Española de Pediatría. Published by Elsevier España, S.L.U. All rights reserved.

  17. FUNCTIONAL ASSESSMENT OF RESPIRATORY DISORDERS IN CHILDREN WITH BRONCHOPULMONARY DYSPLASIA DURING FOLLOW-UP

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    I. V. Davydova

    2014-01-01

    Full Text Available Background. Capabilities of assessing functional condition of the respiratory system in young children, including patients with bronchopulmonary dysplasia, are extremely limited, as little children do not cooperate with doctors in the course of diagnostic procedures. Results of use of a modern instrumental diagnostic method in this group of patients is of doubtless interest. The study was aimed at tracking changes in functional condition of the respiratory system in children with bronchopulmonary dysplasia during follow-up. Methods. Quite breathing flowmetry during natural sleep. Results. The article presents the authors’ data obtained by means of analyzing external respiratory function in children with bronchopulmonary dysplasia using a modern method of quiet breathing flowmetry; it is also reasonable to use relative parameters of the external respiratory function as diagnostic criteria of bronchoobstructive syndrome at bronchopulmonary dysplasia and criteria of effectiveness of N-acetylcysteine mucolytic therapy. Conclusion. Quiet breathing flowmetry may be used to diagnose bronchoobstructive syndrome and assess effectiveness of the treatment thereof in children with bronchopulmonary dysplasia

  18. Ventilator flow data predict bronchopulmonary dysplasia in extremely premature neonates

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    Mariann H. Bentsen

    2018-03-01

    Full Text Available Early prediction of bronchopulmonary dysplasia (BPD may facilitate tailored management for neonates at risk. We investigated whether easily accessible flow data from a mechanical ventilator can predict BPD in neonates born extremely premature (EP. In a prospective population-based study of EP-born neonates, flow data were obtained from the ventilator during the first 48 h of life. Data were logged for >10 min and then converted to flow–volume loops using custom-made software. Tidal breathing parameters were calculated and averaged from ≥200 breath cycles, and data were compared between those who later developed moderate/severe and no/mild BPD. Of 33 neonates, 18 developed moderate/severe and 15 no/mild BPD. The groups did not differ in gestational age, surfactant treatment or ventilator settings. The infants who developed moderate/severe BPD had evidence of less airflow obstruction, significantly so for tidal expiratory flow at 50% of tidal expiratory volume (TEF50 expressed as a ratio of peak tidal expiratory flow (PTEF (p=0.007. A compound model estimated by multiple logistic regression incorporating TEF50/PTEF, birthweight z-score and sex predicted moderate/severe BPD with good accuracy (area under the curve 0.893, 95% CI 0.735–0.973. This study suggests that flow data obtained from ventilators during the first hours of life may predict later BPD in premature neonates. Future and larger studies are needed to validate these findings and to determine their clinical usefulness.

  19. Differences and similarities between bronchopulmonary dysplasia and asthma in schoolchildren.

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    Nordlund, Björn; James, Anna; Ebersjö, Christina; Hedlin, Gunilla; Broström, Eva B

    2017-09-01

    The long-term respiratory characteristics of ex-preterm children with bronchopulmonary dysplasia (BPD) are not established. The objective of this study was to describe hallmarks of BPD at school age in comparison to children with atopic asthma. This study was a cross-sectional descriptive comparative study in a hospital-based setting. Thirty schoolchildren diagnosed with BPD (10.4 years/born at 26.6 weeks' gestation) and 30 age- and sex-matched children with asthma and sensitized to airborne allergens (IgE >0.35 kU A /L) were analyzed. Measurements included fraction of exhaled nitric oxide (FENO, ppb), dynamic and static lung function, and bronchial provocation with methacholine (PD:20) and mannitol (PD:15), as well as an evaluation of respiratory symptoms using the asthma control test (C-ACT). Lung function measures (FEV1% 77 vs 84, FEV1/FVC% 85 vs 91, FEF50% 61 vs 80) and carbon monoxide diffusion capacity (DLCO%, 81 vs 88) were all reduced in children with BPD compared to asthma (P values asthma. However, less responsiveness towards mannitol (19% vs 61%, P = 0.007) and fewer self-reported symptoms (C-ACT, median 26 vs 24, P = 0.003) were found in the BPD group. Respiratory hallmarks of BPD at school-age were reduced lung function, limited responsiveness towards indirectly acting mannitol but hyper-responsiveness towards direct acting methacholine and impairment in diffusion capacity. Children with BPD displayed less evidence of airway inflammation compared with atopic asthma. © 2017 Wiley Periodicals, Inc.

  20. 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.

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

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    Hercília Guimarães

    2014-01-01

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

  2. Bronchopulmonary Dysplasia in Premature Infants: Pathogenesis, Clinical Picture, Treatment and Prevention (Part 2

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    V.I. Snysar

    2013-08-01

    Full Text Available The article describes the current views on the pathogenesis, clinical picture, diagnosis and treatment of bronchopulmonary dysplasia. Special attention is paid to the influence of ductus arteriosus on the occurrence and severity of bronchopulmonary dysplasia, to the mechanisms of the hemodynamic effects of patent ductus arteriosus on blood flow in the anterior cerebral artery, the vessels of the pulmonary circulation, the impact of patent duct on the development of pulmonary edema. Separately, the methods for closure of patent ductus arteriosus were considered. The advantages of pharmacologic ductal closure are noted.

  3. Bronchopulmonary Dysplasia in Premature Infants: Pathogenesis, Clinical Picture, Treatment and Prevention (Part 1

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    V.I. Snysar

    2013-05-01

    Full Text Available The article describes the current views on the pathogenesis, clinical picture, diagnosis and treatment of bronchopulmonary dysplasia. Special attention is paid to the influence of ductus arteriosus on the occurrence and severity of bronchopulmonary dysplasia, to the mechanisms of the hemodynamic effects of patent ductus arteriosus on blood flow in the anterior cerebral artery, the vessels of the pulmonary circulation, the impact of patent duct on the development of pulmonary edema. Separately, the methods for closure of patent ductus arteriosus were considered. The advantages of pharmacologic ductal closure are noted.

  4. Serum surfactant protein D as a marker for bronchopulmonary dysplasia.

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    Vinod, Suja; Gow, Andrew; Weinberger, Barry; Potak, Debra; Hiatt, Mark; Chandra, Shaku; Hegyi, Thomas

    2017-10-26

    Lung epithelial cells express surfactant protein D (SP-D), a calcium-dependent lectin that plays an important role in antibody-independent pulmonary host defense. Previous studies have shown that it is found in the peripheral circulation in patients with pulmonary disease, likely because of translocation into the blood when lung epithelial barriers are disrupted by inflammation or acute injury. In adults, serum SP-D levels are biomarkers for the progression and severity of chronic lung disease. In neonates, elevated SP-D levels in cord blood and on day 1 have been associated with prenatal risk factors and with an increased risk of respiratory distress syndrome and infections. It is not known whether serum SP-D during the first week of life is a marker for bronchopulmonary dysplasia (BPD), a form of chronic lung disease of prematurity that is associated with lung parenchymal maldevelopment and injury. The goal of this study is to determine whether serum SP-D on days 3 and 7 of life are associated with the development of BPD in preterm infants. Serum samples were obtained on postnatal days 3 and 7 from 106 preterm infants (500-2000 g birth weight, 23-32-week gestation). SP-D was quantified by Western blot. BPD was determined at 36 weeks PMA using NICHD criteria. The mean birth weight was 1145 ± 347 g and gestational age 29.2 ± 7.4 weeks. BPD was diagnosed in 7 and "BPD or death" in 16 infants. Days 3 and 7 values tracked significantly (r = 0.648), and did not correlate with birth weight or gestational age. Contrary to expectations, serum SP-D was not associated with BPD. Significant gender differences were noted, with SP-D dropping from day 3 to day 7 in males, while increasing in females (p D does not appear to be a useful marker for BPD. Decreasing serum SP-D levels in males, as compared to females, during the first week of life are likely related to gender differences in lung maturation, consistent with the higher incidence of BPD in males.

  5. Clinical prediction models for bronchopulmonary dysplasia: a systematic review and external validation study

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    Onland, Wes; Debray, Thomas P.; Laughon, Matthew M.; Miedema, Martijn; Cools, Filip; Askie, Lisa M.; Asselin, Jeanette M.; Calvert, Sandra A.; Courtney, Sherry E.; Dani, Carlo; Durand, David J.; Marlow, Neil; Peacock, Janet L.; Pillow, J. Jane; Soll, Roger F.; Thome, Ulrich H.; Truffert, Patrick; Schreiber, Michael D.; van Reempts, Patrick; Vendettuoli, Valentina; Vento, Giovanni; van Kaam, Anton H.; Moons, Karel G.; Offringa, Martin

    2013-01-01

    Bronchopulmonary dysplasia (BPD) is a common complication of preterm birth. Very different models using clinical parameters at an early postnatal age to predict BPD have been developed with little extensive quantitative validation. The objective of this study is to review and validate clinical

  6. 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.

  7. Bronchopulmonary dysplasia in children: contemporary diagnosis, consequences and their treatment (update 2017

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    M.O. Gonchar

    2017-10-01

    Full Text Available The article deals with the modern principles of diagnosing bronchopulmonary dysplasia (BPD in children based on the guidelines of the American Thoracic and European Respiratory Societies. The article have aim to provide an optimal patient management. In modern world literature, BPD is considered as a diffuse parenchymal lung disease of preterm infants that require artificial ventilation and oxygen therapy for acute respiratory failure in the neonatal period. The form and degree of bronchopulmonary dysplasia severity are determined by the overall duration of oxygen dependence and gestational age. In infants, the disease can run with respiratory dysfunction, respiratory failure, asthma-like syndrome, increased susceptibility to respiratory infections, tobacco smoke, and pollutants. Some children with BPD have low tolerance to physical activity with hypersensitivity to hypoxia. 25–37 % of patients have pulmonary arterial hypertension. The article is focused on which should be paid attention when specifying the anamnesis of life and disease in the parents of the child. Current monitoring of the disease includes examination, evaluation of laboratory and instrumental studies. Analysis of the fibrobronchoscopy and bodipletismography data has the weak recommendation. Eliminating hypoxia, optimizing the nutritive status, determining the presence of an open arterial duct, specific drug therapy, and the use of vasodilators should be paid attention when treating a child with bronchopulmonary dysplasia. The article presents a chart for the monitoring of a child with BPD and indications for hospitalization of the patient, expediency and usefulness necessary for practicing pediatricians, family doctors, pediatric pulmonologists.

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

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    Gustavo Rocha

    2010-01-01

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

  9. 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)

  10. Rib enlargement in premature infants with bronchopulmonary dysplasia

    International Nuclear Information System (INIS)

    Yoon, Hye Kyung; Han, Kim Bokyung; Chang, Yun Sil; Choo, In Wook; Kim, Kyeong Ah

    2000-01-01

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

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

  12. Incidence and severity of stage IV bronchopulmonary dysplasia in infants of very low birth weight

    International Nuclear Information System (INIS)

    Parker, B.R.; Stevens, S.K.; Northway, W.H.

    1989-01-01

    To evaluate the incidence and severity of stage IV bronchopulmonary dysplasia (BPD) in infants of very low birth weight, the authors reviewed the clinical course and chest radiographs of 138 such infants. In the lowest weight group ( 1500 g, 10%). However, the severity of BPD (graded by the Toce-Edwards Scale) was highest (6.3) in the < 1500-g group (< 900 g, 5.4; 1200-1500 g, 5.9). These data showed that, although the incidence of stage IV BVD significantly decreased as birth weight increased, the severity of chronic changes was independent of birth weight

  13. How to decrease bronchopulmonary dysplasia in your neonatal intensive care unit today and "tomorrow".

    Science.gov (United States)

    Nelin, Leif D; Bhandari, Vineet

    2017-01-01

    Bronchopulmonary dysplasia, or BPD, is the most common chronic lung disease in infants. Genetic predisposition and developmental vulnerability secondary to antenatal and postnatal infections, compounded with exposure to hyperoxia and invasive mechanical ventilation to an immature lung, result in persistent inflammation, culminating in the characteristic pulmonary phenotype of BPD of impaired alveolarization and dysregulated vascularization. In this article, we highlight specific areas in current management, and speculate on therapeutic strategies that are on the horizon, that we believe will make an impact in decreasing the incidence of BPD in your neonatal intensive care units.

  14. How to decrease bronchopulmonary dysplasia in your neonatal intensive care unit today and “tomorrow”

    Science.gov (United States)

    Nelin, Leif D.; Bhandari, Vineet

    2017-01-01

    Bronchopulmonary dysplasia, or BPD, is the most common chronic lung disease in infants. Genetic predisposition and developmental vulnerability secondary to antenatal and postnatal infections, compounded with exposure to hyperoxia and invasive mechanical ventilation to an immature lung, result in persistent inflammation, culminating in the characteristic pulmonary phenotype of BPD of impaired alveolarization and dysregulated vascularization. In this article, we highlight specific areas in current management, and speculate on therapeutic strategies that are on the horizon, that we believe will make an impact in decreasing the incidence of BPD in your neonatal intensive care units. PMID:28503300

  15. Role of Ureaplasma Respiratory Tract Colonization in Bronchopulmonary Dysplasia Pathogenesis: Current Concepts and Update.

    Science.gov (United States)

    Viscardi, Rose Marie; Kallapur, Suhas G

    2015-12-01

    Respiratory tract colonization with the genital mycoplasma species Ureaplasma parvum and Ureaplasma urealyticum in preterm infants is a significant risk factor for bronchopulmonary dysplasia (BPD). Recent studies of the ureaplasmal genome, animal infection models, and human infants have provided a better understanding of specific virulence factors, pathogen-host interactions, and variability in genetic susceptibility that contribute to chronic infection, inflammation, and altered lung development. This review provides an update on the current evidence supporting a causal role of ureaplasma infection in BPD pathogenesis. The current status of antibiotic trials to prevent BPD in Ureaplasma-infected preterm infants is also reviewed. Copyright © 2015 Elsevier Inc. All rights reserved.

  16. Lung Volume Reduction Surgery for Respiratory Failure in Infants With Bronchopulmonary Dysplasia.

    Science.gov (United States)

    Sohn, Bongyeon; Park, Samina; Park, In Kyu; Kim, Young Tae; Park, June Dong; Park, Sung-Hye; Kang, Chang Hyun

    2018-04-01

    Lung volume reduction surgery (LVRS) can be performed in patients with severe emphysematous disease. However, LVRS in pediatric patients has not yet been reported. Here, we report our experience with 2 cases of pediatric LVRS. The first patient was a preterm infant girl with severe bronchopulmonary dysplasia, pulmonary hypertension, and hypothyroidism. The emphysematous portion of the right lung was removed via sternotomy and right hemiclamshell incision. The patient was discharged on full-time home ventilator support for 3 months after the surgery. Since then, her respiratory function has improved continuously. She no longer needs oxygen supplementation or ventilator care. Her T-cannula was removed recently. The second patient was also a preterm infant girl with bronchopulmonary dysplasia. She was born with pulmonary hypertension and multiple congenital anomalies, including an atrial septal defect. Despite receiving the best supportive care, she could not be taken off the mechanical ventilator because of severe hypercapnia. We performed LVRS on the right lung via thoracotomy. She was successfully weaned off the mechanical ventilator 1 month after the surgery. She was discharged without severe complications at 3 months after the operation. At present, she is growing well with the help of intermittent home ventilator support. She can now tolerate an oral diet. Our experience shows that LVRS can be considered as a treatment option for pediatric patients with severe emphysematous lung. It is especially helpful for discontinuing prolonged mechanical ventilator care for patients with respiratory failure. Copyright © 2018 by the American Academy of Pediatrics.

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

    International Nuclear Information System (INIS)

    Chung, Yoon Ho; Lee, Young Seok; Kim, Ji Hye; Han, Heon; Chung, Hyo Sun; Cha, Yoo Mi; Kim, Young Chae; Kim, Sang Hee

    1996-01-01

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

  18. 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.

  19. 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.

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

    Science.gov (United States)

    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.

  1. Bronchopulmonary dysplasia: clinical practices in five Portuguese neonatal intensive care units.

    Science.gov (United States)

    Guimarães, H; Rocha, G; Vasconcellos, G; Proença, E; Carreira, M L; Sossai, M R; Morais, B; Martins, I; Rodrigues, T; Severo, M

    2010-01-01

    With the advent of surfactant, prenatal corticosteroids (PNC) and advances in technology, the survival rate of extremely low birth weight (ELBW) infants has improved dramatically. Rates of bronchopulmonary dysplasia (BPD) vary widely among neonatal intensive care units (NICUs) and many studies using multiple interventions have shown some improvement in BPD rates. Implementing potentially better practices to reduce BPD has been an effort made over the last few decades. To compare five Portuguese NICUs in terms of clinical practices in very low birth weight (VLBW) infants, in order to develop better practices to prevent BPD. 256 preterm neonates, gestational age (GA) NICU, must be addressed to increase the prescription of PNC, to use a lower FiO2, to be careful with fluid administration in the first weeks of life and to prevent PDA and sepsis. It is necessary to follow guidelines, recommendations or protocols to improve quality in the prevention of BPD.

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

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    Morrow DK

    2015-12-01

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

  3. Extrapulmonary Conditions, Concomitant of Bronchopulmonary Dysplasia, in Babies of the First 3 Years of Life: Results of a Retrospective Cross-Sectional Study

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    K. A. Kazakova

    2016-01-01

    Full Text Available Background: There are few data on co-occurring with bronchopulmonary dysplasia diseases but there is no single point of view on their mutual effect.Objective: Our aim was to learn the structure and frequency of extrapulmonary disease, concomitant of bronchopulmonary dysplasia, in children aged up to 3 years.Methods. A retrospective analysis of histories of 93 children with bronchopulmonary dysplasia with an analysis of the consequences of perinatal pathology structure was carried out.Results. On average, each patient with bronchopulmonary dysplasia accounted for 5 comorbidities. The most common (89; 96% were perinatal lesions of the nervous system and their consequences. In children with bronchopulmonary dysplasia at the age of 3 years there was a relatively low incidence of hydrocephalus and, on the contrary, high — of infantile cerebral palsy. Violations of the organs of vision were found in 58 (62% children, malnutrition and other violations of physical development — in 58 (62% and 27 (29%, respectively, and the cardiovascular system pathology — in 59 (63%.Conclusion. The most commonly, extrapulmonary pathology, co-occuring with bronchopulmonary dysplasia, includes neurological deficit with psychomotor retardation, violations of organs of vision, pathology of the cardiovascular system, malnutrition/delay in physical development.

  4. Morphological, clinical and radiological aspects in diagnostics of bronchopulmonary diseases and their complications in children with dysplasia of connective tissue

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    Palchik S.M.

    2016-06-01

    Full Text Available The article provides an overview of the literature devoted to study of radiological, morphological and clinical aspects of diagnostics of respiratory diseases and their complications in children with dysplasia of connective tissue nowadays. We made an analysis of the role of connective tissue disorders in pathogenesis of bronchopulmonary diseases. Theoretically was substantiated the importance of radiological methods in early diagnostics of this disease in children.

  5. Bronchopulmonary dysplasia as a predictor factor for motor alteration at 6 months corrected age in premature infants

    OpenAIRE

    Martins,Priscila Silveira; Mello,Rosane Reis de; Silva,Kátia Silveira da

    2010-01-01

    OBJECTIVE: The study aimed to assess bronchopulmonary dysplasia (BPD) as a predisposing factor for alteration in the psychomotor development index (PDI) in premature infants and verify the incidence of neuromotor alterations at 6 months corrected age. METHOD: This was a prospective cohort study that followed the neuromotor development of 152 very low birth weight premature infants, with psychomotor development index as the outcome. The study used the Bayley Scale of Infant Development at 6 mo...

  6. 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.

  7. Donor Human Milk Protects against Bronchopulmonary Dysplasia: A Systematic Review and Meta-Analysis.

    Science.gov (United States)

    Villamor-Martínez, Eduardo; Pierro, Maria; Cavallaro, Giacomo; Mosca, Fabio; Kramer, Boris W; Villamor, Eduardo

    2018-02-20

    Bronchopulmonary dysplasia (BPD) is the most common complication after preterm birth. Pasteurized donor human milk (DHM) has increasingly become the standard of care for very preterm infants over the use of preterm formula (PF) if the mother's own milk (MOM) is unavailable. Studies have reported beneficial effects of DHM on BPD. We conducted a systematic review and meta-analysis of randomized controlled trials (RCTs) and observational studies on the effects of DHM on BPD and other respiratory outcomes. Eighteen studies met the inclusion criteria. Meta-analysis of RCTs could not demonstrate that supplementation of MOM with DHM reduced BPD when compared to PF (three studies, risk ratio (RR) 0.89, 95% confidence interval (CI) 0.60-1.32). However, meta-analysis of observational studies showed that DHM supplementation reduced BPD (8 studies, RR 0.78, 95% CI 0.67-0.90). An exclusive human milk diet reduced the risk of BPD, compared to a diet with PF and/or bovine milk-based fortifier (three studies, RR 0.80, 95% CI 0.68-0.95). Feeding raw MOM, compared to feeding pasteurized MOM, protected against BPD (two studies, RR 0.77, 95% CI 0.62-0.96). In conclusion, our data suggest that DHM protects against BPD in very preterm infants.

  8. 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.

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

    Directory of Open Access Journals (Sweden)

    Lauren M. Davidson

    2017-01-01

    Full Text Available 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.

  10. Antioxidant role of plasma carotenoids in bronchopulmonary dysplasia in preterm infants.

    Science.gov (United States)

    Vogelsang, Annelies; van Lingen, Richard A; Slootstra, Janine; Dikkeschei, Bert D; Kollen, Boudewijn J; Schaafsma, Anne; van Zoeren-Grobben, Diny

    2009-09-01

    Oxidative stress is implicated in the pathogenesis of bronchopulmonary dysplasia (BPD) and consequently, it might be theorized that sufficient antioxidant defenses are needed to prevent BPD. We hypothesized that, except for vitamins E and A, carotenoids may be important in this defense. Carotenoids are present in human milk; however, they are not added to parenteral nutrition, the main food source of preterm infants in the first week of life. To evaluate prospectively the role of carotenoids in BPD in a cohort of preterm infants. The plasma concentrations of F(2alpha)-isoprostane, alpha- and beta-carotene, lycopene, lutein, vitamin A, and the vitamin E/cholesterol ratio were studied at days 1, 3, and 7 in a cohort of 109 preterm infants, of whom 19 had BPD. When comparing the BPD and control group, infants in the BPD group were younger (plutein, alpha-carotene, vitamin E, and F(2alpha)-isoprostane concentrations did not differ between groups. Plasma beta-carotene and vitamin A concentrations are lower in BPD infants which may result in a reduction of their antioxidant protection.

  11. Constructing a relevant decision aid for parents of children with bronchopulmonary dysplasia.

    Science.gov (United States)

    Skibo, M; Guillen, U; Zhang, H; Munson, D; Mackley, A; Nilan, K; Kirpalani, H

    2017-12-01

    To develop and test a decision aid for counseling parents of children with bronchopulmonary dysplasia (BPD).Local problem:Parental education about complex conditions is not standardized and communication and understanding may not be adequate. Semi-structured interviews were conducted with 33 neonatal clinicians and 12 parents of children with BPD using a qualitative research design. The interviews were used to identify education topics that were felt to be important in BPD education. These topics were then used to create a visual decision aid to be used in counseling sessions with parents. The decision aid was then used in mock counseling sessions with 15 'experienced' participants and 7 'naïve' participants to assess its efficacy. The participants completed a pre and post test to assess change in knowledge as well as an 11-question Likert style acceptability survey. Implementation of a decision aid while educating parents about BPD. Topics identified during the interviews were used to create eight educational cards which included pictures, pictographs and statistics. Overall, participants thought the decision aid contained an appropriate amount of information, were easy to understand and improved their knowledge about BPD. Testing demonstrated a significant increase in knowledge in both the 'experienced' (Pdecision aid for parents of children with BPD may improve understanding of the condition and help facilitate communication between parents and doctors.

  12. Understanding the impact of infection, inflammation and their persistence in the pathogenesis of bronchopulmonary dysplasia

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    Jherna eBalany

    2015-12-01

    Full Text Available The concerted interaction of genetic and environmental factors act on the preterm human immature lung with inflammation being the common denominator leading to the multifactorial origin of the most common chronic lung disease in infants – bronchopulmonary dysplasia or BPD. Adverse perinatal exposure to infection/inflammation with added insults like invasive mechanical ventilation, exposure to hyperoxia and sepsis causes persistent immune dysregulation. In this review article we have attempted to analyze and consolidate current knowledge about the role played by persistent prenatal and postnatal inflammation in the pathogenesis of BPD. While some parameters of the early inflammatory response (neutrophils, cytokines etc. may not be detectable after days to weeks of exposure to noxious stimuli, they have already initiated the signaling pathways of the inflammatory process / immune cascade and have affected permanent defects structurally and functionally in the BPD lungs. Hence translational research aimed at prevention / amelioration of BPD needs to focus on dampening the inflammatory response at an early stage to prevent the cascade of events leading to lung injury with impaired healing resulting in the pathologic pulmonary phenotype of alveolar simplification and dysregulated vascularization characteristic of BPD.

  13. The Future of Bronchopulmonary Dysplasia: Emerging Pathophysiological Concepts and Potential New Avenues of Treatment

    Directory of Open Access Journals (Sweden)

    Jennifer J. P. Collins

    2017-05-01

    Full Text Available Yearly more than 15 million babies are born premature (<37 weeks gestational age, accounting for more than 1 in 10 births worldwide. Lung injury caused by maternal chorioamnionitis or preeclampsia, postnatal ventilation, hyperoxia, or inflammation can lead to the development of bronchopulmonary dysplasia (BPD, one of the most common adverse outcomes in these preterm neonates. BPD patients have an arrest in alveolar and microvascular development and more frequently develop asthma and early-onset emphysema as they age. Understanding how the alveoli develop, and repair, and regenerate after injury is critical for the development of therapies, as unfortunately there is still no cure for BPD. In this review, we aim to provide an overview of emerging new concepts in the understanding of perinatal lung development and injury from a molecular and cellular point of view and how this is paving the way for new therapeutic options to prevent or treat BPD, as well as a reflection on current treatment procedures.

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

    International Nuclear Information System (INIS)

    Soler, C.; Figueras, J.; Roca, I.; Perez, J.M.; Jimenez, R.

    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

  15. Donor Human Milk Protects against Bronchopulmonary Dysplasia: A Systematic Review and Meta-Analysis

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    Eduardo Villamor-Martínez

    2018-02-01

    Full Text Available Bronchopulmonary dysplasia (BPD is the most common complication after preterm birth. Pasteurized donor human milk (DHM has increasingly become the standard of care for very preterm infants over the use of preterm formula (PF if the mother’s own milk (MOM is unavailable. Studies have reported beneficial effects of DHM on BPD. We conducted a systematic review and meta-analysis of randomized controlled trials (RCTs and observational studies on the effects of DHM on BPD and other respiratory outcomes. Eighteen studies met the inclusion criteria. Meta-analysis of RCTs could not demonstrate that supplementation of MOM with DHM reduced BPD when compared to PF (three studies, risk ratio (RR 0.89, 95% confidence interval (CI 0.60–1.32. However, meta-analysis of observational studies showed that DHM supplementation reduced BPD (8 studies, RR 0.78, 95% CI 0.67–0.90. An exclusive human milk diet reduced the risk of BPD, compared to a diet with PF and/or bovine milk-based fortifier (three studies, RR 0.80, 95% CI 0.68–0.95. Feeding raw MOM, compared to feeding pasteurized MOM, protected against BPD (two studies, RR 0.77, 95% CI 0.62–0.96. In conclusion, our data suggest that DHM protects against BPD in very preterm infants.

  16. Carboxyhemoglobin Formation in Preterm Infants Is Related to the Subsequent Development of Bronchopulmonary Dysplasia.

    Science.gov (United States)

    Tokuriki, Shuko; Okuno, Takashi; Ohta, Genrei; Ohshima, Yusei

    2015-01-01

    To evaluate the usefulness of carboxyhemoglobin (CO-Hb) levels as a biomarker to predict the development and severity of bronchopulmonary dysplasia (BPD). Twenty-five infants born at <33 wk of gestational age or with a birth weight of <1,500 g were enrolled. CO-Hb levels were measured between postnatal days 5 and 8, 12 and 15, 19 and 22, and 26 and 29. Urinary levels of 8-hydroxydeoxyguanosine (8-OHdG), advanced oxidation protein products, and Nε-(hexanoyl) lysine were measured between postnatal days 5 and 8 and 26 and 29. Receiver operating characteristic (ROC) analysis was used to compare the biomarkers' predictive values. Compared with infants in the no-or-mild BPD group, infants with moderate-to-severe BPD exhibited higher CO-Hb levels during the early postnatal period and higher 8-OHdG levels between postnatal days 5 and 8. Using ROC analysis to predict the development of moderate-to-severe BPD, the area under the curve (AUC) for CO-Hb levels between postnatal days 5 and 8 was higher than AUCs for the urinary markers. CO-Hb levels during the early postnatal period may serve as a practical marker for evaluating oxidative stress and the severity of subsequently developing BPD.

  17. Carboxyhemoglobin Formation in Preterm Infants Is Related to the Subsequent Development of Bronchopulmonary Dysplasia

    Directory of Open Access Journals (Sweden)

    Shuko Tokuriki

    2015-01-01

    Full Text Available Objective. To evaluate the usefulness of carboxyhemoglobin (CO-Hb levels as a biomarker to predict the development and severity of bronchopulmonary dysplasia (BPD. Methods. Twenty-five infants born at <33 wk of gestational age or with a birth weight of <1,500 g were enrolled. CO-Hb levels were measured between postnatal days 5 and 8, 12 and 15, 19 and 22, and 26 and 29. Urinary levels of 8-hydroxydeoxyguanosine (8-OHdG, advanced oxidation protein products, and Nε-(hexanoyl lysine were measured between postnatal days 5 and 8 and 26 and 29. Receiver operating characteristic (ROC analysis was used to compare the biomarkers’ predictive values. Results. Compared with infants in the no-or-mild BPD group, infants with moderate-to-severe BPD exhibited higher CO-Hb levels during the early postnatal period and higher 8-OHdG levels between postnatal days 5 and 8. Using ROC analysis to predict the development of moderate-to-severe BPD, the area under the curve (AUC for CO-Hb levels between postnatal days 5 and 8 was higher than AUCs for the urinary markers. Conclusions. CO-Hb levels during the early postnatal period may serve as a practical marker for evaluating oxidative stress and the severity of subsequently developing BPD.

  18. Tamoxifen dosing for Cre-mediated recombination in experimental bronchopulmonary dysplasia.

    Science.gov (United States)

    Ruiz-Camp, Jordi; Rodríguez-Castillo, José Alberto; Herold, Susanne; Mayer, Konstantin; Vadász, István; Tallquist, Michelle D; Seeger, Werner; Ahlbrecht, Katrin; Morty, Rory E

    2017-02-01

    Bronchopulmonary dysplasia (BPD) is the most common complication of preterm birth characterized by blunted post-natal lung development. BPD can be modelled in mice by exposure of newborn mouse pups to elevated oxygen levels. Little is known about the mechanisms of perturbed lung development associated with BPD. The advent of transgenic mice, where genetic rearrangements can be induced in particular cell-types at particular time-points during organogenesis, have great potential to explore the pathogenic mechanisms at play during arrested lung development. Many inducible, conditional transgenic technologies available rely on the application of the estrogen-receptor modulator, tamoxifen. While tamoxifen is well-tolerated and has been widely employed in adult mice, or in healthy developing mice; tamoxifen is not well-tolerated in combination with hyperoxia, in the most widely-used mouse model of BPD. To address this, we set out to establish a safe and effective tamoxifen dosing regimen that can be used in newborn mouse pups subjected to injurious stimuli, such as exposure to elevated levels of environmental oxygen. Our data reveal that a single intraperitoneal dose of tamoxifen of 0.2 mg applied to newborn mouse pups in 10 μl Miglyol vehicle was adequate to successfully drive Cre recombinase-mediated genome rearrangements by the fifth day of life, in a murine model of BPD. The number of recombined cells was comparable to that observed in regular tamoxifen administration protocols. These findings will be useful to investigators where tamoxifen dosing is problematic in the background of injurious stimuli and mouse models of human and veterinary disease.

  19. Update on Vitamin E and Its Potential Role in Preventing or Treating Bronchopulmonary Dysplasia.

    Science.gov (United States)

    Stone, Cosby A; McEvoy, Cindy T; Aschner, Judy L; Kirk, Ashudee; Rosas-Salazar, Christian; Cook-Mills, Joan M; Moore, Paul E; Walsh, William F; Hartert, Tina V

    2018-03-07

    Vitamin E is obtained only through the diet and has a number of important biological activities, including functioning as an antioxidant. Evidence that free radicals may contribute to pathological processes such as bronchopulmonary dysplasia (BPD), a disease of prematurity associated with increased lung injury, inflammation and oxidative stress, led to trials of the antioxidant vitamin E (α-tocopherol) to prevent BPD with variable results. These trials were all conducted at supraphysiologic doses and 2 of these trials utilized a formulation containing a potentially harmful excipient. Since 1991, when the last of these trials was conducted, both neonatal management strategies for minimizing oxygen and ventilator-related lung injury and our understanding of vitamin E isoforms in respiratory health have advanced substantially. It is now known that there are differences between the effects of vitamin E isoforms α-tocopherol and γ-tocopherol on the development of respiratory morbidity and inflammation. What is not known is whether improvements in physiologic concentrations of individual or combinations of vitamin E isoforms during pregnancy or following preterm birth might prevent or reduce BPD development. The answers to these questions require adequately powered studies targeting pregnant women at risk of preterm birth or their premature infants immediately following birth, especially in certain subgroups that are at increased risk of vitamin E deficiency (e.g., smokers). The objective of this review is to compile, update, and interpret what is known about vitamin E isoforms and BPD since these first studies were conducted, and suggest future research directions. © 2018 S. Karger AG, Basel.

  20. Antenatal Determinants of Bronchopulmonary Dysplasia and Late Respiratory Disease in Preterm Infants.

    Science.gov (United States)

    Morrow, Lindsey A; Wagner, Brandie D; Ingram, David A; Poindexter, Brenda B; Schibler, Kurt; Cotten, C Michael; Dagle, John; Sontag, Marci K; Mourani, Peter M; Abman, Steven H

    2017-08-01

    Mechanisms contributing to chronic lung disease after preterm birth are incompletely understood. To identify antenatal risk factors associated with increased risk for bronchopulmonary dysplasia (BPD) and respiratory disease during early childhood after preterm birth, we performed a prospective, longitudinal study of 587 preterm infants with gestational age less than 34 weeks and birth weights between 500 and 1,250 g. Data collected included perinatal information and assessments during the neonatal intensive care unit admission and longitudinal follow-up by questionnaire until 2 years of age. After adjusting for covariates, we found that maternal smoking prior to preterm birth increased the odds of having an infant with BPD by twofold (P = 0.02). Maternal smoking was associated with prolonged mechanical ventilation and respiratory support during the neonatal intensive care unit admission. Preexisting hypertension was associated with a twofold (P = 0.04) increase in odds for BPD. Lower gestational age and birth weight z-scores were associated with BPD. Preterm infants who were exposed to maternal smoking had higher rates of late respiratory disease during childhood. Twenty-two percent of infants diagnosed with BPD and 34% of preterm infants without BPD had no clinical signs of late respiratory disease during early childhood. We conclude that maternal smoking and hypertension increase the odds for developing BPD after preterm birth, and that maternal smoking is strongly associated with increased odds for late respiratory morbidities during early childhood. These findings suggest that in addition to the BPD diagnosis at 36 weeks, other factors modulate late respiratory outcomes during childhood. We speculate that measures to reduce maternal smoking not only will lower the risk for preterm birth but also will improve late respiratory morbidities after preterm birth.

  1. Safety, reliability, and validity of a physiologic definition of bronchopulmonary dysplasia.

    Science.gov (United States)

    Walsh, Michele C; Wilson-Costello, Deanna; Zadell, Arlene; Newman, Nancy; Fanaroff, Avroy

    2003-09-01

    Bronchopulmonary dysplasia (BPD) is the focus of many intervention trials, yet the outcome measure when based solely on oxygen administration may be confounded by differing criteria for oxygen administration between physicians. Thus, we wished to define BPD by a standardized oxygen saturation monitoring at 36 weeks corrected age, and compare this physiologic definition with the standard clinical definition of BPD based solely on oxygen administration. A total of 199 consecutive very low birthweight infants (VLBW, 501 to 1500 g birthweight) were assessed prospectively at 36+/-1 weeks corrected age. Neonates on positive pressure support or receiving >30% supplemental oxygen were assigned the outcome BPD. Those receiving or =88% for 60 minutes) or "BPD" (saturation reliability, test-retest reliability, and validity of the physiologic definition vs the clinical definition were assessed. A total of 199 VLBW were assessed, of whom 45 (36%) were diagnosed with BPD by the clinical definition of oxygen use at 36 weeks corrected age. The physiologic definition identified 15 infants treated with oxygen who successfully passed the saturation monitoring test in room air. The physiologic definition diagnosed BPD in 30 (24%) of the cohort. All infants were safely studied. The test was highly reliable (inter-rater reliability, kappa=1.0; test-retest reliability, kappa=0.83) and highly correlated with discharge home in oxygen, length of hospital stay, and hospital readmissions in the first year of life. The physiologic definition of BPD is safe, feasible, reliable, and valid and improves the precision of the diagnosis of BPD. This may be of benefit in future multicenter clinical trials.

  2. Interleukin-6 polymorphism and bronchopulmonary dysplasia risk in very low-birthweight infants.

    Science.gov (United States)

    Usuda, Touhei; Kobayashi, Takehiro; Sakakibara, Seiichi; Kobayashi, Akira; Kaneko, Takayuki; Wada, Masaki; Onozuka, Junya; Numata, Osamu; Torigoe, Katsumi; Yamazaki, Hajime; Sato, Takashi; Nagayama, Yoshihisa; Uchiyama, Makoto

    2012-08-01

    The aim of the present study was to evaluate the role of interleukin (IL)-6-634 polymorphism in neonatal disorders such as bronchopulmonary dysplasia (BPD) and periventricular leukomalacia (PVL) in very low-birthweight (VLBW) infants. This prospective cohort study included 202 infants (gestational age at birth, 23-34 weeks; birthweight, 500-1499 g). Genotypic analysis (polymerase chain reaction-restriction fragment length polymorphism) was performed with DNA extracted from whole-blood samples. Genotype distribution (66.8% CC, 28.2% CG, 5.0% GG) was similar to that in the adult Japanese population. BPD occurred in 85 infants (42.1%) among 202 VLBW infants. The duration of O(2) therapy in infants with CG/GG genotypes was significantly longer than that in infants with the CC genotype (CG/GG vs CC: 40.3 ± 52.2 days vs 28.4 ± 32.6 days, P < 0.05), but the prevalence of BPD was not associated with the CG/GG genotype (CG/GG, 40.0%; CC, 46.3%, P= 0.24). Infants with CG/GG genotypes were more likely to have received postnatal corticosteroid therapy for BPD than those with the CC genotype (CG/GG vs CC: 20.9% vs 11.1%, P = 0.05). PVL occurred in six infants (3.0%). There was no significant difference in the prevalence of PVL among IL-6-634 polymorphisms (CG/GG, 3.0%; CC, 3.0%, P = 0.65). IL-6-634 polymorphism is associated with duration of oxygen therapy in VLBW infants. This suggests that the IL-6-634 polymorphism G allele is an aggravating factor of BPD. IL-6-634 polymorphism is not associated with PVL. © 2012 The Authors. Pediatrics International © 2012 Japan Pediatric Society.

  3. Blood Cytokine Profiles Associated with Distinct Patterns of Bronchopulmonary Dysplasia among Extremely Low Birth Weight Infants.

    Science.gov (United States)

    D'Angio, Carl T; Ambalavanan, Namasivayam; Carlo, Waldemar A; McDonald, Scott A; Skogstrand, Kristin; Hougaard, David M; Shankaran, Seetha; Goldberg, Ronald N; Ehrenkranz, Richard A; Tyson, Jon E; Stoll, Barbara J; Das, Abhik; Higgins, Rosemary D

    2016-07-01

    To explore differences in blood cytokine profiles among distinct bronchopulmonary dysplasia (BPD) patterns. We evaluated blood spots collected from 943 infants born at ≤1000 g and surviving to 28 days on postnatal days 1, 3, 7, 14, and 21 for 25 cytokines. Infants were assigned to the following lung disease patterns: (1) no lung disease (NLD); (2) respiratory distress syndrome without BPD; (3) classic BPD (persistent exposure to supplemental oxygen until 28 days of age); or (4) atypical BPD (period without supplemental oxygen before 28 days). Median cytokine levels for infants with BPD were compared with the IQR of results among infants with NLD. The distribution of enrolled infants by group was as follows: 69 (NLD), 73 (respiratory distress syndrome), 381 (classic BPD), and 160 (atypical BPD). The remaining 260 infants could not be classified because of missing data (104) or not fitting a predefined pattern (156). Median levels of 3 cytokines (elevated interleukin [IL]-8, matrix metalloproteinase-9; decreased granulocyte macrophage colony-stimulating factor) fell outside the IQR for at least 2 time points in both infants with atypical and classic BPD. Profiles of 7 cytokines (IL-6, IL-10, IL-18, macrophage inflammatory protein-1α, C-reactive protein, brain-derived neurotrophic factor, regulated on activation, normal T cell expressed and secreted) differed between infants with classic and atypical BPD. Blood cytokine profiles may differ between infants developing classic and atypical BPD. These dissimilarities suggest the possibility that differing mechanisms could explain the varied patterns of pathophysiology of lung disease in extremely premature infants. Copyright © 2016 Elsevier Inc. All rights reserved.

  4. Ascorbylperoxide Contaminating Parenteral Nutrition Is Associated With Bronchopulmonary Dysplasia or Death in Extremely Preterm Infants.

    Science.gov (United States)

    Mohamed, Ibrahim; Elremaly, Wesam; Rouleau, Thérèse; Lavoie, Jean-Claude

    2017-08-01

    Ascorbylperoxide (AscOOH) is a hydrogen peroxide-dependent by-product of ascorbic acid that contaminates parenteral nutrition. In a guinea pig model, it caused oxidized redox potential, increased apoptosis, and decreased alveolarization. AscOOH detoxification is carried out by glutathione peroxidase (GPX). We hypothesize that extremely preterm infants have limited capacity for AscOOH detoxification. Our objective was to determine if there is an association between an early level of urinary AscOOH and later development of bronchopulmonary dysplasia (BPD) or death. This prospective cohort study included 51 infants at <29 weeks of gestation. Baseline clinical characteristics and clinical outcomes data were collected. Urine samples were collected on days 3, 5, and 7 of life for urinary AscOOH. Blood samples on day 7 were collected for total plasma glutathione, GPX, and glutathione reductase. χ 2 , Student's t test, Spearman correlation ( r), linear regression (adjusted r 2 ), and repeated-measure analysis of variance were used as appropriate. P < .05 was considered significant. Urinary AscOOH increased over time ( P = .001) and was higher in infants who later developed BPD or died ( P = .037). Compared with adults and full-term infants, total plasma glutathione concentration was low (median, 1.02 µmol/L; 25th-75th percentiles, 0.49-1.76 µmol/L), whereas GPX and glutathione reductase activities were sufficient (3.98 ± 1.25 and 0.36 ± 0.01 nmol/min/mg of protein, respectively). Extremely preterm infants have low glutathione levels, which limit their capacity to detoxify AscOOH. Higher first-week urinary AscOOH levels are associated with an increased incidence of BPD or death.

  5. Risk factors for bronchopulmonary dysplasia in neonates born at ≤ 1500 g (1999-2009).

    Science.gov (United States)

    Zhang, Hongshan; Fang, Jianpei; Su, Haobin; Chen, Miao

    2011-12-01

    Advances in perinatal care have improved the survival rate for very low-birthweight (VLBW) infants in China. The incidence of bronchopulmonary dysplasia (BPD), however, has not been reduced. The objective of the present study was to identify the perinatal risk factors for BPD in neonates born at ≤ 1500 g. A retrospective analysis of data for neonates born at ≤ 1500 g between 1999 and 2009 in the neonatal intensive care unit (NICU) of Second Affiliated Hospital of Sun Yat-Sen University, Guangzhou city, China, was carried out. Out of a total of 11,506 live births, 3538 infants were admitted to level II nursery and NICU (level III nursery). Among 149 preterm infants born at ≤ 1500 g, 77.8% survived until day 28, and the incidence of BPD was 48.3%. Logistic regression analysis showed that gestational age (GA) ≤ 30 weeks (odds ratio [OR], 9.507; 95% confidence intervals [95%CI]: 2.604-34.707), maternal chorioamnionitis (OR, 41.987; 95%CI: 6.048-291.492), ventilation-associated pneumonia (OR, 11.600; 95%CI: 2.847-47.268), and more than three blood transfusions (OR, 10.214; 95%CI: 2.191-47.623) were associated with the development of BPD. Clinical evidence has been provided for possibly significant risk factors associated with BPD in neonates born at ≤ 1500 g, which can provide useful information for further research to improve survival of VLBW infants and decrease the incidence of BPD. © 2011 The Authors. Pediatrics International © 2011 Japan Pediatric Society.

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

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    Christoph Czernik

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

  7. Neonatal Pulmonary MRI of Bronchopulmonary Dysplasia Predicts Short-term Clinical Outcomes.

    Science.gov (United States)

    Higano, Nara S; Spielberg, David R; Fleck, Robert J; Schapiro, Andrew H; Walkup, Laura L; Hahn, Andrew D; Tkach, Jean A; Kingma, Paul S; Merhar, Stephanie L; Fain, Sean B; Woods, Jason C

    2018-05-23

    Bronchopulmonary dysplasia (BPD) is a serious neonatal pulmonary condition associated with premature birth, but the underlying parenchymal disease and trajectory are poorly characterized. The current NICHD/NHLBI definition of BPD severity is based on degree of prematurity and extent of oxygen requirement. However, no clear link exists between initial diagnosis and clinical outcomes. We hypothesized that magnetic resonance imaging (MRI) of structural parenchymal abnormalities will correlate with NICHD-defined BPD disease severity and predict short-term respiratory outcomes. Forty-two neonates (20 severe BPD, 6 moderate, 7 mild, 9 non-BPD controls; 40±3 weeks post-menstrual age) underwent quiet-breathing structural pulmonary MRI (ultrashort echo-time and gradient echo) in a NICU-sited, neonatal-sized 1.5T scanner, without sedation or respiratory support unless already clinically prescribed. Disease severity was scored independently by two radiologists. Mean scores were compared to clinical severity and short-term respiratory outcomes. Outcomes were predicted using univariate and multivariable models including clinical data and scores. MRI scores significantly correlated with severities and predicted respiratory support at NICU discharge (P<0.0001). In multivariable models, MRI scores were by far the strongest predictor of respiratory support duration over clinical data, including birth weight and gestational age. Notably, NICHD severity level was not predictive of discharge support. Quiet-breathing neonatal pulmonary MRI can independently assess structural abnormalities of BPD, describe disease severity, and predict short-term outcomes more accurately than any individual standard clinical measure. Importantly, this non-ionizing technique can be implemented to phenotype disease and has potential to serially assess efficacy of individualized therapies.

  8. IFN-γ and IP-10 in tracheal aspirates from premature infants: relationship with bronchopulmonary dysplasia.

    Science.gov (United States)

    Aghai, Zubair H; Saslow, Judy G; Mody, Kartik; Eydelman, Riva; Bhat, Vishwanath; Stahl, Gary; Pyon, Kee; Bhandari, Vineet

    2013-01-01

    Interferon-gamma (IFN-γ) and interferon-inducible protein of 10 kDa (IP-10) are potent inflammatory mediators and contribute to acute lung injury in adults. Recently, a potential role for IFN-γ and IP-10 in the pathogenesis of bronchopulmonary dysplasia (BPD) has been reported in animal models. To study the association between IFN-γ and IP-10 in tracheal aspirate (TA) and the development of BPD in premature infants. TA samples collected within 48 hr after birth from 79 mechanically ventilated premature neonates [gestational age (GA) IP-10 was determined using a commercially available ELISA kit. Total protein in TA was measured by Bradford assay to correct for sampling related dilution. BPD was defined as the need of supplemental oxygen at 36 weeks postmenstrual age (PMA). Twenty infants (GA 26.4 ± 1.9w, BW 860 ± 201 g) survived without BPD at 36 weeks PMA and 59 infants (GA 25.5 ± 1.5w, BW 751 ± 163 g) died before 36 weeks PMA or developed BPD. The mean IFN-γ level was higher in infants who died or developed BPD (9.7 ± 2.8 vs. 3.1 ± 1.1 pg/ml, P = 0.03). Similarly, the mean IP-10 level was higher in infants who died or developed BPD (63.4 ± 17.5 pg/ml) compared to those who survived without BPD (18.5 ± 7.5 pg/ml, P = 0.02). Higher IFN-γ and IP-10 levels in TA samples are associated with the development of BPD or death in premature infants. Copyright © 2012 Wiley Periodicals, Inc.

  9. Altered Right Ventricular Mechanical Properties Are Afterload Dependent in a Rodent Model of Bronchopulmonary Dysplasia

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    Jitandrakumar R. Patel

    2017-10-01

    Full Text Available Infants born premature are at increased risk for development of bronchopulmonary dysplasia (BPD, pulmonary hypertension (PH, and ultimately right ventricular (RV dysfunction, which together carry a high risk of neonatal mortality. However, the role alveolar simplification and abnormal pulmonary microvascular development in BPD affects RV contractile properties is unknown. We used a rat model of BPD to examine the effect of hyperoxia-induced PH on RV contractile properties. We measured in vivo RV pressure as well as passive force, maximum Ca2+ activated force, calcium sensitivity of force (pCa50 and rate of force redevelopment (ktr in RV skinned trabeculae isolated from hearts of 21-and 35-day old rats pre-exposed to 21% oxygen (normoxia or 85% oxygen (hyperoxia for 14 days after birth. Systolic and diastolic RV pressure were significantly higher at day 21 in hyperoxia exposed rats compared to normoxia control rats, but normalized by 35 days of age. Passive force, maximum Ca2+ activated force, and calcium sensitivity of force were elevated and cross-bridge cycling kinetics depressed in 21-day old hyperoxic trabeculae, whereas no differences between normoxic and hyperoxic trabeculae were seen at 35 days. Myofibrillar protein analysis revealed that 21-day old hyperoxic trabeculae had increased levels of beta-myosin heavy chain (β-MHC, atrial myosin light chain 1 (aMLC1; often referred to as essential light chain, and slow skeletal troponin I (ssTnI compared to age matched normoxic trabeculae. On the other hand, 35-day old normoxic and hyperoxic trabeculae expressed similar level of α- and β-MHC, ventricular MLC1 and predominantly cTnI. These results suggest that neonatal exposure to hyperoxia increases RV afterload and affect both the steady state and dynamic contractile properties of the RV, likely as a result of hyperoxia-induced expression of β-MHC, delayed transition of slow skeletal TnI to cardiac TnI, and expression of atrial MLC1. These

  10. Standardisation of oxygen exposure in the development of mouse models for bronchopulmonary dysplasia

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    Claudio Nardiello

    2017-02-01

    Full Text Available Progress in developing new therapies for bronchopulmonary dysplasia (BPD is sometimes complicated by the lack of a standardised animal model. Our objective was to develop a robust hyperoxia-based mouse model of BPD that recapitulated the pathological perturbations to lung structure noted in infants with BPD. Newborn mouse pups were exposed to a varying fraction of oxygen in the inspired air (FiO2 and a varying window of hyperoxia exposure, after which lung structure was assessed by design-based stereology with systemic uniform random sampling. The efficacy of a candidate therapeutic intervention using parenteral nutrition was evaluated to demonstrate the utility of the standardised BPD model for drug discovery. An FiO2 of 0.85 for the first 14 days of life decreased total alveoli number and concomitantly increased alveolar septal wall thickness, which are two key histopathological characteristics of BPD. A reduction in FiO2 to 0.60 or 0.40 also caused a decrease in the total alveoli number, but the septal wall thickness was not impacted. Neither a decreasing oxygen gradient (from FiO2 0.85 to 0.21 over the first 14 days of life nor an oscillation in FiO2 (between 0.85 and 0.40 on a 24 h:24 h cycle had an appreciable impact on lung development. The risk of missing beneficial effects of therapeutic interventions at FiO2 0.85, using parenteral nutrition as an intervention in the model, was also noted, highlighting the utility of lower FiO2 in selected studies, and underscoring the need to tailor the model employed to the experimental intervention. Thus, a state-of-the-art BPD animal model that recapitulates the two histopathological hallmark perturbations to lung architecture associated with BPD is described. The model presented here, where injurious stimuli have been systematically evaluated, provides a most promising approach for the development of new strategies to drive postnatal lung maturation in affected infants.

  11. Bronchopulmonary dysplasia: Clinical practices in five Portuguese neonatal intensive care units

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    H. Guimarães

    2010-03-01

    Full Text Available With the advent of surfactant, prenatal corticosteroids (PNC and advances in technology, the survival rate of extremely low birth weight (ELBW infants has improved dramatically. Rates of bronchopulmonary dysplasia (BPD vary widely among neonatal intensive care units (NICUs and many studies using multiple interventions have shown some improvement in BPD rates. Implementing potentially better practices to reduce BPD has been an effort made over the last few decades. Aim: To compare five Portuguese NICUs in terms of clinical practices in very low birth weight (VLBW infants, in order to develop better practices to prevent BPD. Patients and methods: 256 preterm neonates, gestational age (GA < 30 weeks and/or birthweight (BW < 1250g admitted to five Portuguese NICUs (centers 1 to 5 between 1st January 2004 and 31st December 2006, were studied. VLBW infants with major malformations, grade IV intraventricular haemorrhage in the first week of life and metabolic or neuromuscular disease were excluded. BPD was defined as oxygen dependency at 36 weeks of postconceptional age. We considered a practice to be improved as clinically significant whenever a decrease greater than 10% in the prevalence of BPD adjusted for the practice, GA and BW was achieved compared to BPD prevalence adjusted only for GA and BW. Results: The overall prevalence of BPD was 12.9%. Our results revealed that PNC use should be improved in centers 4 and 5; fluid policy in center 4; oxygen therapy and sepsis prevention in centers 1 and 2. Patent ductus arteriosus (PDA treatment should be improved in center 2. Conclusion: The implementation of potentially better practices to reduce lung injury in neonates in Portuguese NICUs, according to each NICU, must be addressed to increase the prescription of PNC, to use a lower FiO2, to be careful with fluid administration in the first weeks of life and to prevent PDA and sepsis. It is necessary to follow guidelines, recommendations or

  12. Sphingosine kinase 1 deficiency confers protection against hyperoxia-induced bronchopulmonary dysplasia in a murine model: role of S1P signaling and Nox proteins.

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    Harijith, Anantha; Pendyala, Srikanth; Reddy, Narsa M; Bai, Tao; Usatyuk, Peter V; Berdyshev, Evgeny; Gorshkova, Irina; Huang, Long Shuang; Mohan, Vijay; Garzon, Steve; Kanteti, Prasad; Reddy, Sekhar P; Raj, J Usha; Natarajan, Viswanathan

    2013-10-01

    Bronchopulmonary dysplasia of the premature newborn is characterized by lung injury, resulting in alveolar simplification and reduced pulmonary function. Exposure of neonatal mice to hyperoxia enhanced sphingosine-1-phosphate (S1P) levels in lung tissues; however, the role of increased S1P in the pathobiological characteristics of bronchopulmonary dysplasia has not been investigated. We hypothesized that an altered S1P signaling axis, in part, is responsible for neonatal lung injury leading to bronchopulmonary dysplasia. To validate this hypothesis, newborn wild-type, sphingosine kinase1(-/-) (Sphk1(-/-)), sphingosine kinase 2(-/-) (Sphk2(-/-)), and S1P lyase(+/-) (Sgpl1(+/-)) mice were exposed to hyperoxia (75%) from postnatal day 1 to 7. Sphk1(-/-), but not Sphk2(-/-) or Sgpl1(+/-), mice offered protection against hyperoxia-induced lung injury, with improved alveolarization and alveolar integrity compared with wild type. Furthermore, SphK1 deficiency attenuated hyperoxia-induced accumulation of IL-6 in bronchoalveolar lavage fluids and NADPH oxidase (NOX) 2 and NOX4 protein expression in lung tissue. In vitro experiments using human lung microvascular endothelial cells showed that exogenous S1P stimulated intracellular reactive oxygen species (ROS) generation, whereas SphK1 siRNA, or inhibitor against SphK1, attenuated hyperoxia-induced S1P generation. Knockdown of NOX2 and NOX4, using specific siRNA, reduced both basal and S1P-induced ROS formation. These results suggest an important role for SphK1-mediated S1P signaling-regulated ROS in the development of hyperoxia-induced lung injury in a murine neonatal model of bronchopulmonary dysplasia. Copyright © 2013 American Society for Investigative Pathology. Published by Elsevier Inc. All rights reserved.

  13. The Role of Growth Factors (VEGF, TGF-β1 and Cyclic Guanosine Monophosphate in the Formation of Pulmonary Hypertension in Children with Bronchopulmonary Dysplasia

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    A.S. Senatorova

    2013-10-01

    Full Text Available In 82 children with bronchopulmonary dysplasia (from 1 to 36 months of corrected age we investigated the level of VEGF, TGF-β1 in blood and cyclic guanosine monophosphate (cGMP in sputum. It was revealed that children with bronchopulmonary dysplasia had a significant increase in TGF-β1 (p < 0.05 and cGMP (p < 0.01–0.001, reduced VEGF (p < 0.05, indicating inhibition of angiogenesis, activation of fibrosis factors and endothelium-dependent vasodilation. Reliable direct dependence of activation of TGF-β1 in blood and cGMP in sputum, as well as inverse correlation between VEGF in blood and rLA had been proved, which gave reason to think of pulmonary hypertension as an adverse factor in fibrosis activation and angiogenesis inhibition in children with bronchopulmonary dysplasia. Reduced oxygen saturation and oxygen partial pressure moderately activated cGMP, but did not provide a sufficient reduction of pressure in the pulmonary artery.

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

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    Demet Terek

    2014-01-01

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

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

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    Terek, Demet; Yalaz, Mehmet; Ulger, Zulal; Koroglu, Ozge Altun; Kultursay, Nilgun

    2014-11-01

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

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

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    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.

  17. Evaluation of Timing and Dosing of Caffeine Citrate in Preterm Neonates for the Prevention of Bronchopulmonary Dysplasia.

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    Shenk, Eleni E; Bondi, Deborah S; Pellerite, Matthew M; Sriram, Sudhir

    2018-01-01

    The aim of this study was to evaluate the timing and dosing of caffeine therapy in relation to the development of bronchopulmonary dysplasia (BPD). This was a single-center, retrospective cohort study comparing early (days of life 0-2) to late (day of life 3 or greater) caffeine initiation in extremely low birth weight neonates, with a secondary analysis of large (10 mg/kg/day) to small dose (5 mg/kg/day) caffeine. There were 138 patients in the primary timing analysis. The early caffeine group had a lower incidence and reduced odds of the composite outcome of BPD or all-cause mortality, compared with the late caffeine group (64% vs. 88%, respectively; adjusted p < 0.05; adjusted OR 0.36 [95% CI 0.13-0.98]). No statistically significant difference was found between dosing groups (p = 0.29) in the primary outcome; however, there was a lower rate of patent ductus arteriosus requiring treatment (p = 0.05) and decreased likelihood of discharging home on oxygen (p = 0.02) in the large-dose group compared with the small-dose group. Early caffeine initiation significantly decreased the incidence of BPD or all-cause mortality in extremely low birth weight neonates. Patients receiving large-dose caffeine had improved secondary outcomes, although no difference in BPD was noted. Further studies are needed to determine the optimal dosing of caffeine.

  18. Epidemiological factors involved in the development of bronchopulmonary dysplasia in very low birth-weight preterm infants.

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    Lardón-Fernández, Marita; Uberos, José; Molina-Oya, Manuel; Narbona-López, Eduardo

    2017-02-01

    In spite of the advances made in perinatal medicine, the incidence of bronchopulmonary dysplasia (BPD) has not decreased and the aetiopathogenesis of the "new" BPD is still a matter for debate. The objectives of the present study were to analyse the epidemiological factors and morbidity associated with the development of BPD in a cohort of very low birth-weight (VLBW) preterm infants. This retrospective observational study included all the preterm infants with birth weight ≤1500 g who were admitted to a tertiary-level hospital NICU from 2008 to 2011. A neurological follow-up was also carried out during the first two years of life. A total of 140 VLBW infants were analyzed: 28.4% presented oxygen dependence at 28 days, and 17.2% at 36 weeks adjusted gestational age. Predictive factors for the development of BPD were gestational age, birth weight, number of days of parenteral nutrition, number of days to achieve full enteral feeding, number of transfusions, duration of respiratory support and insulin administration, vasoactive drugs, diuretics, sedoanalgesia and postnatal corticosteroids. The neonatal morbidity associated with the development of BPD was late neonatal sepsis, patent ductus arteriosus, retinopathy of prematurity (ROP) and intraventricular hemorrhage. Non-significant associations with neurodevelopmental impairment were observed. Predictive factors for the development of BPD were respiratory support, feeding and different types of medication. Moreover, patients with BPD had a higher associated morbidity than those who did not develop BPD.

  19. A single nucleotide polymorphism in the dimethylarginine dimethylaminohydrolase gene is associated with lower risk of pulmonary hypertension in bronchopulmonary dysplasia

    Science.gov (United States)

    Trittmann, JK; Gastier-Foster, JM; Zmuda, EJ; Frick, J; Rogers, LK; Vieland, VJ; Chicoine, LG; Nelin, LD

    2016-01-01

    Aim Pulmonary hypertension (PH) develops in 25–40% of bronchopulmonary dysplasia (BPD) patients, substantially increasing mortality. We have previously found that asymmetric dimethylarginine (ADMA), an endogenous inhibitor of nitric oxide (NO) production, is elevated in patients with BPD-associated PH. ADMA is metabolized by NG,NG- dimethylarginine dimethylaminohydrolase (DDAH). Presently, we test the hypothesis that there are single nucleotide polymorphisms (SNPs) in DDAH1 and/or DDAH2 associated with the development of PH in BPD patients. Methods BPD patients were enrolled (n=98) at Nationwide Children’s Hospital. Clinical characteristics and 36 SNPs in DDAH1 and DDAH2 were compared between BPD-associated PH patients (cases) and BPD-alone patients (controls). Results In BPD patients, 25 (26%) had echocardiographic evidence of PH (cases). In this cohort, DDAH1 wildtype rs480414 was 92% sensitive and 53% specific for PH in BPD, and the DDAH1 SNP rs480414 decreased the risk of PH in an additive model of inheritance (OR=0.39; 95% CI [0.18–0.88], p=0.01). Conclusion The rs480414 SNP in DDAH1 may be protective against the development of PH in patients with BPD. Furthermore, the DDAH1 rs480414 may be a useful biomarker in developing predictive models for PH in patients with BPD. PMID:26663142

  20. Antenatal exposure to Ureaplasma species exacerbates bronchopulmonary dysplasia synergistically with subsequent prolonged mechanical ventilation in preterm infants.

    Science.gov (United States)

    Inatomi, Tadashi; Oue, Shinya; Ogihara, Tohru; Hira, Seigo; Hasegawa, Masashi; Yamaoka, Shigeo; Yasui, Masako; Tamai, Hiroshi

    2012-03-01

    The presence of microorganisms in gastric fluid in neonates at birth is postulated to reflect antenatal infection and also to be associated with the development of bronchopulmonary dysplasia (BPD). A logistic regression analysis, after controlling for other risk factors, indicated that Ureaplasma-positive infants were not at increased risk for moderate/severe BPD (adjusted odds ratio (OR): 2.58, 95% confidence interval (CI): 0.57-6.89, P = 0.12). However, the association between the presence of Ureaplasma species and the risk for moderate/severe BPD increased significantly in infants on mechanical ventilation (MV) ≥2 wk (adjusted OR: 4.17, 95% CI: 1.62-44.1, P = 0.009). An analysis using a lung injury marker indicated that Ureaplasma-positive infants with MV ≥2 wk, but not other infants, showed higher serum KL-6 levels in samples taken from cord blood, and that KL-6 levels increased time-dependently up to 4 wk of age. Antenatal exposure to Ureaplasma species induces lung injury prior to birth and synergistically contributes to the development of BPD in infants requiring prolonged MV (≥2 wk). We recovered gastric fluid specimens from 122 infants with gestational age (GA) Ureaplasma-positive or Ureaplasma-negative infants.

  1. Trends in Survival and Incidence of Bronchopulmonary Dysplasia in Extremely Preterm Infants at 23–26 Weeks Gestation

    Science.gov (United States)

    2016-01-01

    The aim of this study was to investigate the relationship between survival and incidence of bronchopulmonary dysplasia (BPD) in extremely premature infants, and identify clinical factors responsible for this association. Medical records of 350 infants at 23–26 weeks gestation from 2000 to 2005 (period I, n = 137) and 2006 to 2010 (period II, n = 213) were retrospectively reviewed. The infants were stratified into 23–24 and 25–26 weeks gestation, and the survival, BPD incidence, and clinical characteristics were analyzed. BPD was defined as oxygen dependency at 36 weeks postmenstrual age. The overall survival rate was significantly improved in period II compared to period I (80.3% vs. 70.0%, respectively; P = 0.028), especially in infants at 23–24 weeks gestation (73.9% vs. 47.4%, respectively; P = 0.001). The BPD incidence in survivors during period II (55.0%) was significantly decreased compared to period I (67.7%; P = 0.042), especially at 25–26 weeks gestation (41.7% vs. 62.3%, respectively; P = 0.008). Significantly improved survival at 23–24 weeks gestation was associated with a higher antenatal steroid use and an improved 5-minute Apgar score. A significant decrease in BPD incidence at 25–26 weeks gestation was associated with early extubation, prolonged use of less invasive continuous positive airway pressure, and reduced supplemental oxygen. Improved perinatal and neonatal care can simultaneously lead to improved survival and decreased BPD incidence in extremely premature infants. PMID:26955244

  2. Redistribution of Extracellular Superoxide Dismutase Causes Neonatal Pulmonary Vascular Remodeling and PH but Protects Against Experimental Bronchopulmonary Dysplasia

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    Laurie G. Sherlock

    2018-03-01

    increased serum SOD3 expression and SOD activity prevent lung injury in experimental bronchopulmonary dysplasia (BPD and PH.

  3. Gestational Exposure to Sidestream (Secondhand) Cigarette Smoke Promotes Transgenerational Epigenetic Transmission of Exacerbated Allergic Asthma and Bronchopulmonary Dysplasia.

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    Singh, Shashi P; Chand, Hitendra S; Langley, Raymond J; Mishra, Neerad; Barrett, Ted; Rudolph, Karin; Tellez, Carmen; Filipczak, Piotr T; Belinsky, Steve; Saeed, Ali I; Sheybani, Aryaz; Exil, Vernat; Agarwal, Hemant; Sidhaye, Venkataramana K; Sussan, Thomas; Biswal, Shyam; Sopori, Mohan

    2017-05-15

    Embryonic development is highly sensitive to xenobiotic toxicity and in utero exposure to environmental toxins affects physiological responses of the progeny. In the United States, the prevalence of allergic asthma (AA) is inexplicably rising and in utero exposure to cigarette smoke increases the risk of AA and bronchopulmonary dysplasia (BPD) in children and animal models. We reported that gestational exposure to sidestream cigarette smoke (SS), or secondhand smoke, promoted nicotinic acetylcholine receptor-dependent exacerbation of AA and BPD in mice. Recently, perinatal nicotine injections in rats were reported to induce peroxisome proliferator-activated receptor γ-dependent transgenerational transmission of asthma. Herein, we show that first generation and second generation progeny from gestationally SS-exposed mice exhibit exacerbated AA and BPD that is not dependent on the decrease in peroxisome proliferator-activated receptor γ levels. Lungs from these mice show strong eosinophilic infiltration, excessive Th2 polarization, marked airway hyperresponsiveness, alveolar simplification, decreased lung compliance, and decreased lung angiogenesis. At the molecular level, these changes are associated with increased RUNX3 expression, alveolar cell apoptosis, and the antiangiogenic factor GAX, and decreased expression of HIF-1α and proangiogenic factors NF-κB and VEGFR2 in the 7-d first generation and second generation lungs. Moreover, the lungs from these mice exhibit lower levels of microRNA (miR)-130a and increased levels of miR-16 and miR-221. These miRs regulate HIF-1α-regulated apoptotic, angiogenic, and immune pathways. Thus the intergenerational effects of gestational SS involve epigenetic regulation of HIF-1α through specific miRs contributing to increased incidence of AA and BPD in the progenies. Copyright © 2017 by The American Association of Immunologists, Inc.

  4. [Somatic and psychomotor development of preterm infants at the age of 2 years, with and without bronchopulmonary dysplasia].

    Science.gov (United States)

    Kwinta, Przemko; Klimek, Małgorzata; Pietrzyk, Jacek J

    2005-01-01

    The assessment of psychomotor and somatic development at the age of 2 years of preterm infants with and without bronchopulmonary dysplasia (BPD). Case -- control study. Neonatal Intensive Care Unit, University Hospital. 62 preterm infants born before 32 weeks of gestation, with mean birth weight equaled to 1112 g were included into 2 groups: group A -- with BPD (n=31), group B (control) -- matched by sex, birth weight, gestational age (n=31). Evaluation of reaching milestones, neurological examination at 3, 9, 12, 18-24 months, Psyche-Cattel tests at 12 and 24 months, hearing and visions examinations, head, chest circumference, length and weight at 3, 6, 9, 12 and 24 months. Age of unsupported sitting and walking, intelligence quotient (IQ), cerebral palsy, hearing and sight impairment. Reaching motor milestones were similar in the both groups (unsupported sitting (mean) 10.4 vs. 8.7 months, unsupported walking: 15.1 vs. 13.9 months). Cerebral palsy occurred more (non-significantly) frequently in group A than in group B (7/31 vs. 2/31, p=0.15). Significantly lower IQ was found in group A at the age of 1 year in comparison with group B (x +/- SEM: 79.9 +/- 2.1 vs. 86.1 +/- 1.5, p=0.03) and at the age of 2 years (x +/- SEM: 89.2 +/- 2.7 vs. 96.0 +/- 2.1, p=0.06). Weight, length, head and chest circumferences at the term of delivery were similar in the both groups, but at the age of 9 and 24 months the group A children weighted less than group B (respectively: 7432 vs. 8128 g, 10010 vs. 11116; pdevelopment of preterm newborns.

  5. Antenatal steroids and risk of bronchopulmonary dysplasia: a lack of effect or a case of over-adjustment?

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    Gagliardi, Luigi; Bellù, Roberto; Rusconi, Franca; Merazzi, Daniele; Mosca, Fabio

    2007-07-01

    Although antenatal steroids reduce risk factors for bronchopulmonary dysplasia (BPD) in preterm infants, their effect on BPD is conflicting. We hypothesised that the lack of protective effect found in some studies could derive from over-adjustment during analysis, caused by controlling for factors intermediate in the causal pathway between treatment and outcome. We prospectively studied a cohort of infants 23-32 weeks gestation steroids. In univariable analysis, steroids were not significantly protective against BPD; some intermediate factors (mechanical ventilation, greater severity of illness as measured by Clinical Risk Index for Babies score, patent ductus arteriosus) were significantly positively associated with (i.e. were risk factors for) BPD (OR = 11.0, 1.55, 4.42, respectively, all P steroids (OR = 0.58, 0.92, and 0.58, respectively, all P steroid-treated infants had a lower risk of BPD (OR 0.59 [95% CI 0.36, 0.97], P = 0.036); male sex (OR = 2.08), late-onset sepsis (OR = 4.26), and birthweight (OR = 0.63 for 100 g increase) were also associated with BPD, all P effect of steroids disappeared; ventilation (OR = 3.03), increased illness severity (OR = 1.11), and patent ductus arteriosus (OR = 1.90) were significant risk factors. This study suggests that including variables that are potential mediators in the causal chain can obscure the ability to detect a protective effect of treatment. We observed such a phenomenon in our analyses of the relationship between antenatal steroids and BPD, suggesting that steroid effect is partly mediated through a reduction in the classical risk factors.

  6. Association between pulmonary ureaplasma colonization and bronchopulmonary dysplasia in preterm infants: updated systematic review and meta-analysis.

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    Lowe, John; Watkins, W John; Edwards, Martin O; Spiller, O Brad; Jacqz-Aigrain, Evelyne; Kotecha, Sarah J; Kotecha, Sailesh

    2014-07-01

    Previous meta-analyses have reported a significant association between pulmonary colonization with Ureaplasma and development of bronchopulmonary dysplasia (BPD). However, because few studies reporting oxygen dependency at 36 weeks corrected gestation were previously available, we updated the systematic review and meta-analyses to evaluate the association between presence of pulmonary Ureaplasma and development of BPD. Five databases were searched for articles reporting the incidence of BPD at 36 weeks postmenstrual age (BPD36) and/or BPD at 28 days of life (BPD28) in Ureaplasma colonized and noncolonized groups. Pooled estimates were produced using random effects meta-analysis. Meta-regression was used to assess the influence of difference in gestational age between the Ureaplasma-positive and Ureaplasma-negative groups. The effects of potential sources of heterogeneity were also investigated. Of 39 studies included, 8 reported BPD36, 22 reported BPD28 and 9 reported both. The quality of studies was assessed as moderate to good. There was a significant association between Ureaplasma and development of BPD36 (odds ratio = 2.22; 95% confidence intervals: 1.42-3.47) and BPD28 (odds ratio = 3.04; 95% confidence intervals: 2.41-3.83). Sample size influenced the odds ratio, but no significant association was noted between BPD28 rates and difference in gestational age between Ureaplasma colonized and noncolonized infants (P = 0.96). Pulmonary colonization with Ureaplasma continues to be significantly associated with development of BPD in preterm infants at both 36 weeks postmenstrual age and at 28 days of life. This association at BPD28 persists regardless of difference in gestational age.

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

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    Anstead Michael I

    2007-06-01

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

  8. What Is Bronchopulmonary Dysplasia?

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    ... the lungs. Later, babies may be given breast milk or infant formula through feeding tubes that are ... can help strengthen your child's muscles and clear mucus out of his or her lungs. Infants who ...

  9. 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

  10. Systemic hydrocortisone to prevent bronchopulmonary dysplasia in preterm infants (the SToP-BPD study; a multicenter randomized placebo controlled trial

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    Onland Wes

    2011-11-01

    Full Text Available 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 dexamethasone may increase the risk of adverse neurodevelopmental outcome. Hydrocortisone has been suggested as an alternative therapy. So far no randomized controlled trial has investigated its efficacy when administered after the first week of life to ventilated preterm infants. Methods/Design The SToP-BPD trial is a randomized double blind placebo controlled multicenter study including 400 very low birth weight infants (gestational age Discussion This trial will determine the efficacy and safety of postnatal hydrocortisone administration at a moderately early postnatal onset compared to placebo for the reduction of the combined outcome mortality and BPD at 36 weeks postmenstrual age in ventilator dependent preterm infants. Trial registration number Netherlands Trial Register (NTR: NTR2768

  11. Optimizing Caffeine Use and Risk of Bronchopulmonary Dysplasia in Preterm Infants: A Systematic Review, Meta-analysis, and Application of Grading of Recommendations Assessment, Development, and Evaluation Methodology.

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    Pakvasa, Mitali Atul; Saroha, Vivek; Patel, Ravi Mangal

    2018-06-01

    Caffeine reduces the risk of bronchopulmonary dysplasia (BPD). Optimizing caffeine use could increase therapeutic benefit. We performed a systematic-review and random-effects meta-analysis of studies comparing different timing of initiation and dose of caffeine on the risk of BPD. Earlier initiation, compared to later, was associated with a decreased risk of BPD (5 observational studies; n = 63,049, adjusted OR 0.69; 95% CI 0.64-0.75, GRADE: low quality). High-dose caffeine, compared to standard-dose, was associated with a decreased risk of BPD (3 randomized trials, n = 432, OR 0.65; 95% CI 0.43-0.97; GRADE: low quality). Higher quality evidence is needed to guide optimal caffeine use. Copyright © 2018 Elsevier Inc. All rights reserved.

  12. Bronchopulmonary dysplasia as a predictor factor for motor alteration at 6 months corrected age in premature infants Displasia broncopulmonar como fator predisponente para alterações motoras aos 6 meses em prematuros

    OpenAIRE

    Priscila Silveira Martins; Rosane Reis de Mello; Kátia Silveira da Silva

    2010-01-01

    OBJECTIVE: The study aimed to assess bronchopulmonary dysplasia (BPD) as a predisposing factor for alteration in the psychomotor development index (PDI) in premature infants and verify the incidence of neuromotor alterations at 6 months corrected age. METHOD: This was a prospective cohort study that followed the neuromotor development of 152 very low birth weight premature infants, with psychomotor development index as the outcome. The study used the Bayley Scale of Infant Development at 6 mo...

  13. 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.

  14. 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.

  15. Pulmonary outcome in former preterm, very low birth weight children with bronchopulmonary dysplasia: a case-control follow-up at school age.

    Science.gov (United States)

    Vom Hove, Maike; Prenzel, Freerk; Uhlig, Holm H; Robel-Tillig, Eva

    2014-01-01

    To assess and compare long-term pulmonary outcomes in former preterm-born, very low birth weight (VLBW) children with and without bronchopulmonary dysplasia (BPD) born in the surfactant era. Pulmonary function tests (ie, spirometry, body plethysmography, and gas transfer testing) were performed in children with a history of VLBW and BPD (n = 28) and compared with a matched preterm-born VLBW control group (n = 28). Medical history was evaluated by questionnaire. At time of follow-up (mean age, 9.5 years), respiratory symptoms (36% vs 8%) and receipt of asthma medication (21% vs 0%) were significantly more frequent in the preterm-born children with previous BPD than in those with no history of BPD. The children with a history of BPD had significantly lower values for forced expiratory volume in 1 second (z-score -1.27 vs -0.4; P = .008), forced vital capacity (z-score -1.39 vs -0.71 z-score; P = .022), and forced expiratory flow rate at 50% of forced vital capacity (z-score -2.21 vs -1.04; P = .048) compared with the preterm control group. Preterm-born children with a history of BPD are significantly more likely to have lung function abnormalities, such as airway obstruction and respiratory symptoms, at school age compared with preterm-born children without BPD. Copyright © 2014 Mosby, Inc. All rights reserved.

  16. A quantitative analysis of Ureaplasma urealyticum and Ureaplasma parvum compared with host immune response in preterm neonates at risk of developing bronchopulmonary dysplasia.

    Science.gov (United States)

    Payne, Matthew S; Goss, Kevin C W; Connett, Gary J; Legg, Julian P; Bruce, Ken D; Chalker, Vicki

    2012-03-01

    Multiplex, real-time PCR for the identification of Ureaplasma urealyticum and Ureaplasma parvum was performed on nucleic acids extracted from sequential endotracheal aspirates obtained from preterm neonates born at Ureaplasma spp. were identified in 5 of 13 neonates studied. In most cases, the DNA load of the detected Ureaplasma species was low and decreased over time. In addition, changes in detectable Ureaplasma species DNA did not relate to changes in the inflammatory marker C-reactive protein (CRP) or respiratory status. All but two blood samples obtained at times of suspected sepsis were culture positive for other microorganisms; the species cultured were typically coagulase-negative staphylococci and were associated with increased levels of CRP (>10 mg/liter). This study was limited by the small number of patients examined and does not have the power to support or contradict the hypothesis that postnatal lung infection with Ureaplasma parvum is causally related to bronchopulmonary dysplasia (BPD) or adverse respiratory outcomes after preterm birth. However, in this study, increases in CRP levels were not associated with patients in whom Ureaplasma parvum was detected, in contrast to the detection of other bacterial species.

  17. Single nucleotide polymorphism in toll-like receptor 6 is associated with a decreased risk for ureaplasma respiratory tract colonization and bronchopulmonary dysplasia in preterm infants.

    Science.gov (United States)

    Winters, Alexandra H; Levan, Tricia D; Vogel, Stefanie N; Chesko, Kirsty L; Pollin, Toni I; Viscardi, Rose M

    2013-08-01

    Ureaplasma spp. respiratory tract colonization is a risk factor for bronchopulmonary dysplasia (BPD) in preterm infants, but differences in host susceptibility have not been elucidated. We hypothesized that variants in genes regulating the innate immune response are associated with altered risk for Ureaplasma spp. respiratory colonization and BPD in preterm infants. Twenty-four tag single nucleotide polymorphisms (SNPs) from Toll-like receptor (TLR)1, TLR2, TLR4 and TLR6 were assayed in 298 infants Ureaplasma spp. and were evaluated for BPD. The majority of subjects (N = 205 [70%]) were African-American. One hundred ten (37%) were Ureaplasma positive. Four SNPs in TLR2 and TLR6 were significantly associated with Ureaplasma respiratory tract colonization. Single SNPs in TLR2, TLR4 and TLR6 were associated with BPD. TLR6 SNP rs5743827 was associated with both a decreased risk for Ureaplasma respiratory tract colonization and decreased risk for BPD (odds ratio: 0.54 [0.34-0.86] and odds ratio: 0.54 [0.31-0.95], respectively). There was a significant additive interaction between Ureaplasma colonization and genotype at TLR6 SNP rs5743827 (Padditive = 0.023), with an attributable proportion due to interaction of 0.542. Polymorphisms in host defense genes may alter susceptibility to Ureaplasma infection and severity of the inflammatory response contributing to BPD. These observations implicate host genetic susceptibility as a major factor in BPD pathogenesis in Ureaplasma-infected preterms.

  18. Risk factors for bronchopulmonary dysplasia in five Portuguese neonatal intensive care units Factores de risco de displasia broncopulmonar em cinco unidades portuguesas de cuidados intensivos neonatais

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    Hercília Guimarães

    2010-06-01

    Full Text Available The pathogenesis of bronchopulmonary dysplasia (BPD is clearly multifactorial. Specific pathogenic risk factors are prematurity, respiratory distress, oxygen supplementation, mechanical ventilation (MV, inflammation, patent ductus arteriosus (PDA, etc. Aim: To evaluate BPD prevalence and to identify risk factors for BPD in five Portuguese Neonatal Intensive Care Units in order to develop better practices the management of these newborns. Material and methods: 256 very low birth weight infants with gestational age (GA 0.30 (85 vs 5 days, respectively in BPD and no BPD patients, pA displasia broncopulmonar (DBP é multifactorial. Prematuridade, doença da membrana hialina, oxigénio, ventilação mecânica, inflamação e canal arterial são alguns dos factores na sua patogénese. Objectivo: Avaliar a prevalência da DBP e seus factores de risco em cinco unidades portuguesas, para implementar boas práticas no tratamento deste doentes. Material e métodos: 256 recém-nascidos (RN com idade gestacional (IG 0,30 (85 vs 5 dias, respectivamente nos doentes com e sem DBP, p<0,001. Comentários: Os factores de risco de DBP mais relevantes foram o baixo peso, a doença da membrana hialina grave, a duração da ventilação mecânica e da oxigenoterapia e a sépsis. A implementação das boas práticas para reduzir a lesão pulmonar nos RN deve ser dirigida para melhorar as práticas que reduzem estes factores de risco.

  19. Bubble nasal CPAP, early surfactant treatment, and rapid extubation are associated with decreased incidence of bronchopulmonary dysplasia in very-low-birth-weight newborns: efficacy and safety considerations.

    Science.gov (United States)

    Friedman, Charles A; Menchaca, Robert C; Baker, Mary C; Rivas, Clarissa K; Laberge, Raymond N; Rios, Enrique H; Haider, Syed H; Romero, Edgar J; Eason, Elizabeth B; Fraley, J Kennard; Woldesenbet, Mesfin

    2013-07-01

    Current literature has been inconsistent in demonstrating that minimizing the duration of mechanical ventilation in very-low-birth-weight (VLBW) newborns reduces lung damage. To determine if introduction of bubble nasal CPAP (bnCPAP), early surfactant treatment, and rapid extubation (combined bnCPAP strategy) in our community-based neonatal ICU reduced bronchopulmonary dysplasia (BPD). This was a 7-year retrospective,single-institution review of respiratory outcomes in 633 VLBW babies before and after introduction of the combined bnCPAP strategy. Coincident changes in newborn care were taken into account with a logistic regression model. The average percentage of VLBW newborns with BPD decreased to 25.8% from 35.4% (P = .02), reaching a minimum in the last post-bnCPAP year of22.1% (P = .02). When other coincident changes in newborn care during the study years were taken into account, VLBW babies in the post-bnCPAP years had a 43% lower chance of developing BPD(P = .003, odds ratio 0.43, 95% CI 0.25– 0.75). Decreases occurred in mechanical ventilation and the percentage of infants discharged on diuretics and on supplemental oxygen. Among the subset of extremely-low-birth-weight newborns, improved respiratory outcomes in the post-bnCPAP years,as compared to outcomes in the pre-bnCPAP years, included an increase in the percentage alive and off mechanical ventilation at 1 week postnatal age (P < .001), a more rapid extubation rate(P < .03), a decrease in the median days on mechanical ventilation (P = .002), and a decrease in the percentage with BPD plus died (P = .01). Post-bnCPAP extremely-low-birth-weight babies had a statistically significant decrease in retinopathy of prematurity, an increase in low-grade intraventricular hemorrhage, and a decrease in ductal ligations. A combined BnCPAP strategy may contribute to a reduction of BPD, after adjusting for concurrent treatments.

  20. A pilot study to assess short-term physiologic outcomes of transitioning infants with severe bronchopulmonary dysplasia from ICU to two subacute ventilators.

    Science.gov (United States)

    DiBlasi, Robert M; Crotwell, Dave N; Poli, Jonathan; Hotz, Justin; Cogen, Jonathan D; Carter, Edward

    2018-01-01

    This study was designed to evaluate short-term physiologic outcomes of transitioning neonates with bronchopulmonary dysplasia (BPD) from intensive care unit (ICU) ventilators to both the Trilogy 202 (Philips Healthcare, Andover, MA) and LTV 1200 (CareFusion, Yorba Linda, CA) subacute ventilators. Six infants with BPD requiring tracheostomies for support with a neonatal-specific ICU ventilator underwent placement of esophageal balloon catheters, airway pressure transducers, flow sensors, oxygen saturation (SpO 2 ), and end tidal carbon dioxide (P ET CO 2 ) monitors. Noninvasive gas exchange, airflow, and airway and esophageal pressures (P ES ) were recorded following 20 min on the ICU ventilator. The infants were placed on the Trilogy 202 and LTV 1200 ventilators in random order at identical settings as the ICU ventilator. We measured noninvasive gas exchange, pressure-rate product (respiratory rate × ΔP ES ), ventilator response times, and the percentage of spontaneous breaths that triggered the ventilator at 20 min in each subject while being supported with each of the different subacute ventilators. The mean (SD) weight of the six infants was 4.983 (0.56) kg. There were no differences in heart rate ( p = 0.51) or SpO 2 ( p = 0.97) but lower P ET CO 2 , ΔP ES , respiratory rate, pressure rate-product, response times, and greater percentage of subject initiated breaths that triggered the ventilator ( p ventilator to the Trilogy 202 ventilator. In this small group of infants with BPD, the Trilogy 202 ventilator performed better than the LTV 1200. The improved subject efforts, per cent subject triggering, and response times observed with the Trilogy are likely related to differences in triggering algorithms, location of triggering mechanisms, and gas delivery system performance within the ventilators. These pilot data may be useful for informing future clinical study design and understanding differences in the level of support provided by different subacute

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

    International Nuclear Information System (INIS)

    Couroucli, Xanthi I.; Liang Yanhong Wei; Jiang Weiwu; Wang Lihua; Barrios, Roberto; Yang Peiying; Moorthy, Bhagavatula

    2011-01-01

    Supplemental oxygen contributes to the development of bronchopulmonary dysplasia (BPD) in premature infants. In this investigation, we tested the hypothesis that prenatal treatment of pregnant mice (C57BL/6J) with the cytochrome P450 (CYP)1A1 inducer, ss-napthoflavone (BNF), will lead to attenuation of lung injury in newborns (delivered from these dams) exposed to hyperoxia by mechanisms entailing transplacental induction of hepatic and pulmonary CYP1A enzymes. Pregnant mice were administered the vehicle corn oil (CO) or BNF (40 mg/kg), i.p., once daily for 3 days on gestational days (17-19), and newborns delivered from the mothers were either maintained in room air or exposed to hyperoxia (> 95% O 2 ) for 1-5 days. After 3-5 days of hyperoxia, the lungs of CO-treated mice showed neutrophil infiltration, pulmonary edema, and perivascular inflammation. On the other hand, BNF-pretreated neonatal mice showed decreased susceptibility to hyperoxic lung injury. These mice displayed marked induction of ethoxyresorufin O-deethylase (EROD) (CYP1A1) and methoxyresorufin O-demethylase (MROD) (CYP1A2) activities, and levels of the corresponding apoproteins and mRNA levels until PND 3 in liver, while CYP1A1 expression alone was augmented in the lung. Prenatal BNF did not significantly alter gene expression of pulmonary NAD(P)H quinone reductase (NQO1). Hyperoxia for 24-72 h resulted in increased pulmonary levels of the F 2 -isoprostane 8-iso-PGF 2α , whose levels were decreased in mice prenatally exposed to BNF. In conclusion, our results suggest that prenatal BNF protects newborns against hyperoxic lung injury, presumably by detoxification of lipid hydroperoxides by CYP1A enzymes, a phenomenon that has implications for prevention of BPD in infants. - Highlights: → Supplemental oxygen is routinely administered to premature infants. → Hyperoxia causes lung injury in experimental animals. → Prenatal treatment of mice with beta-naphthoflavone attenuates oxygen injury

  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. 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

  4. Bronchopulmonary dysplasia: Clinical practices in five Portuguese neonatal intensive care units Displasia broncopulmonar: Práticas clínicas em cinco unidades de cuidados intensivos neonatais

    Directory of Open Access Journals (Sweden)

    H Guimarães

    2010-04-01

    Full Text Available With the advent of surfactant, prenatal corticosteroids (PNC and advances in technology, the survival rate of extremely low birth weight (ELBW infants has improved dramatically. Rates of bronchopulmonary dysplasia (BPD vary widely among neonatal intensive care units (NICUs and many studies using multiple interventions have shown some improvement in BPD rates. Implementing potentially better practices to reduce BPD has been an effort made over the last few decades. Aim: To compare five Portuguese NICUs in terms of clinical practices in very low birth weight (VLBW infants, in order to developbetter practices to prevent BPD. Patients and methods: 256 preterm neonates, gestational age (GA Com o advento do surfactante, dos corticosteróides prénatais e dos avanços na tecnologia, a sobrevida dos recém-nascidos de extremo baixo peso tem melhorado dramaticamente. As taxas de displasia broncopulmonar (DBP variam amplamente entre unidades, e vários estudos, avaliando resultados de múltiplas intervenções, têm mostrado alguma melhoria na prevalência da DBP. A implementação de potenciais boas práticas na DBP tem sido adoptada por muitos serviços nas últimas décadas. Objectivo: Comparar cinco unidades portuguesas de cuidados intensivos neonatais no que se refere as práticas clínicas no tratamento dos recém-nascidos de muito baixo peso, para desenvolver e melhorar as boas práticas na prevenção da DBP. População e métodos: Foram estudados 256 recém-nascidos com a idade gestacional inferior a 30 semanas e/ou peso ao nascer inferior a 1250 g, admitidos nas cinco unidades portuguesas (centros 1 a 5 entre 1 de Janeiro de 2004 e 31 de Dezembro de 2006. Foram excluídos os recém-nascidos com malformações major, hemorragia intraventricular grau IV na primeira semana de vida e com doença metabólica ou neuromuscular. Definimos DBP como a dependência do oxigénio às 36 semanas de idade pós-concepcional. A ecessidade de melhorar

  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

    Directory of Open Access Journals (Sweden)

    Lilian Beani

    2007-12-01

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

  6. Bronchopulmonary dysplasia as a predictor factor for motor alteration at 6 months corrected age in premature infants Displasia broncopulmonar como fator predisponente para alterações motoras aos 6 meses em prematuros

    Directory of Open Access Journals (Sweden)

    Priscila Silveira Martins

    2010-10-01

    Full Text Available OBJECTIVE: The study aimed to assess bronchopulmonary dysplasia (BPD as a predisposing factor for alteration in the psychomotor development index (PDI in premature infants and verify the incidence of neuromotor alterations at 6 months corrected age. METHOD: This was a prospective cohort study that followed the neuromotor development of 152 very low birth weight premature infants, with psychomotor development index as the outcome. The study used the Bayley Scale of Infant Development at 6 months corrected age, and neurological examination. RESULTS: Incidence of BPD was 13.2% (n=20. Logistic regression analysis showed an association between BPD and altered psychomotor development index (OR 3.98; 95%CI: 1.04-15.1 after adjusting for confounding variables. Neurological examination was altered in 67.1% of the 152 infants. CONCLUSION: Bronchopulmonary dysplasia acted as an independent predisposing factor for alteration in the psychomotor development index in premature infants at 6 months corrected age.OBJETIVO: Avaliar a displasia broncopulmonar (DBP como fator predisponente para alteração no índice de desenvolvimento psicomotor em prematuros e verificar a incidência das alterações neuromotoras aos 6 meses de idade corrigida. MéTODO: Estudo de coorte prospectivo que acompanhou o desenvolvimento neuromotor de 152 prematuros de muito baixo peso, cujo desfecho foi o desenvolvimento psicomotor. Utilizou-se a Bayley Scale of Infant Development aos 6 meses de idade corrigida e exame neurológico. RESULTADOS: A incidência de DBP foi de 13,2% (n=20. A análise de regressão logística mostrou associação entre a DBP e alteração no índice de desenvolvimento psicomotor (RC 3,98 IC 95%:1,04-15,1 após ajuste para as variáveis de confundimento. O exame neurológico apresentou-se alterado em 67,1% das 152 crianças. CONCLUSão: A displasia broncopulmonar atuou como fator predisponente independente para alteração no índice de desenvolvimento

  7. Bronchopulmonary aspergillosis

    International Nuclear Information System (INIS)

    Strepetova, T.N.; Solov'eva, T.N.

    1993-01-01

    Case histories of 510 patients operated on for chronic destructive puimonary tuberculosis and mycetoma are analyzed, as are the findings of examinations of 56 patients with cavitary forms of lung involvement. X-ray and tomographic examinations were carried out according to the routine methods. Blood serum IgC antibodies to aspergillosis antigen were determined in the enzyme immunoassay. An X-ray symptom of the foamy nuclear (septal) structure of pulmonary shifts was revealed, that represents a sort of a pathologic tissue response in one of bronchopulmonary aspergillosis forms

  8. 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.

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

    Directory of Open Access Journals (Sweden)

    Tathiana Ghisi de Souza

    2009-03-01

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

  10. Allergic Bronchopulmonary Aspergillosis

    Directory of Open Access Journals (Sweden)

    Juan Carlos Fernández de Córdova-Aguirre

    2014-03-01

    Full Text Available Allergic bronchopulmonary aspergillosis is a slowly progressive disease, caused by the fungus Aspergillus fumigatus hypersensitivity when it is found in the airway. It usually affects asthmatics and patients with cystic brosis. We report the case of a 20-year-old male patient, student, farmer and rancher with chronic respiratory disease. The diagnosis of allergic bronchopulmonary aspergillosis was made on the basis of the clinical symptoms and complementary studies.

  11. 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

  12. Ectodermal dysplasias

    Science.gov (United States)

    Anhidrotic ectodermal dysplasia; Christ-Siemens-Touraine syndrome; Anondontia; Incontinentia pigmenti ... These resources can provide more information on ectodermal dysplasias: Ectodermal Dysplasia Society -- www.ectodermaldysplasia.org National Foundation for ...

  13. 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...

  14. The significance of IL-1β +3953C>T, IL-6 -174G>C and -596G>A, TNF-α -308G>A gene polymorphisms and 86 bp variable number tandem repeat polymorphism of IL-1RN in bronchopulmonary dysplasia in infants born before 32 weeks of gestation

    Directory of Open Access Journals (Sweden)

    Dawid Szpecht

    2017-06-01

    Full Text Available Introduction : Bronchopulmonary dysplasia (BPD is a chronic lung disease that affects primarily preterm infants. Genetic factors are also taken into consideration in the pathogenesis of BPD. Genetic predispositions to higher production of inflammation mediators seem to be crucial. Material and methods: The aim of this study was to evaluate the possible relationship between polymorphisms: interleukin-1β +3953 C>T, interleukin-6 -174 G>C and -596 G>A, tumour necrosis factor -308 G>A and interleukin-1RN VNTR 86bp and the occurrence of BPD in a population of 100 preterm infants born from singleton pregnancy, before 32+0 weeks of gestation, exposed to antenatal steroids therapy, and without congenital abnormalities.  Results : In the study population BPD was diagnosed in 36 (36% newborns. Among the studied polymorphisms we found the higher prevalence for BPD developing of the following genotypes: 1/2 (OR 1.842 [0.673-5.025] and 2/2 IL-1RN (OR 1.75 [0.418-6.908] 86bpVNTR; GC (2.222 [0.658-8.706] and CC IL-6 -174G>C (1.6 [0.315-8.314] and GA (2.753 [0.828-10.64] and AA (1.5 [0.275-8.067] IL-6 -596G>A, GA 1.509 (0.515-4.301 TNF-α -308G>A. However, these finding were not statistically significant.  Conclusions : Genetic factors are undeniably involved in the pathogenesis of BPD. In the times of individualised therapy finding genes responsible for BPD might allow the development of new treatment strategies. A new way of specific therapy could ensure the reduction of complications connected with BPD and treatment costs.

  15. Allergic Bronchopulmonary Aspergillosis

    Directory of Open Access Journals (Sweden)

    Michael C. Tracy

    2016-06-01

    Full Text Available Allergic bronchopulmonary aspergillosis (ABPA, a progressive fungal allergic lung disease, is a common complication of asthma or cystic fibrosis. Although ABPA has been recognized since the 1950s, recent research has underscored the importance of Th2 immune deviation and granulocyte activation in its pathogenesis. There is also strong evidence of widespread under-diagnosis due to the complexity and lack of standardization of diagnostic criteria. Treatment has long focused on downregulation of the inflammatory response with prolonged courses of oral glucocorticosteroids, but more recently concerns with steroid toxicity and availability of new treatment modalities has led to trials of oral azoles, inhaled amphotericin, pulse intravenous steroids, and subcutaneously-injected anti-IgE monoclonal antibody omalizumab, all of which show evidence of efficacy and reduced toxicity.

  16. 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...

  17. Analysis of status of preterm infants with bronchopulmonary dysplasia

    Directory of Open Access Journals (Sweden)

    Chernenkov Yu.V.

    2017-06-01

    Full Text Available Objective: the combination frequency of BPD in premature infants, assessment of the degree of functional lesion of the respiratory tract and the efficiency of respiratory support. Material and Methods. The survey included 36 women and 38 preterm infants (two twins. Results. In 99% of the surveyed women pregnancy was complicated by chronic intrauterine fetal hypoxia, 2.1% — RH-conflict. At 43.2% of cases acute respiratory viral infection during pregnancy was revealed, 15.3% of bad obstetric history, 5% of women who had bad habits (smoking, alcohol intake. In 2015 there were 5 deaths (13.2%. 14 children (36.8% were transferred to other hospitals for further treatment, the remaining 19 (50% were discharged from the hospital. One child — full-term, the other— premature. At 87.7% of children with BPD, the diagnosis was RDS, in 4.2% — aspiration of meconium, 8.1% — congenital pneumonia. 15 children (30.5% received therapy with surfactant once, including 9 newborns (23.7% received medication twice. All newborns were carried out intensive care, including respiratory support. Mechanical ventilation in 14 children had been conducting for 8.4±2.3 day, in 13 cases for 17.3±3.8 day, in 11 cases for 23.4±4.1 day. Nasal CPAP was conducted in 23 newborns: from 4 to 6.8±1.9 day, 13 — less of 16.8±2.9 per day, 6 children have had more than 23.2±3.8 day. Conclusion. There is necessity for prevention during pregnancy with glucocorticoids, the prolongation of pregnancy; preterm neonates — surfactant therapy; adequate provision of resuscitation care in the delivery room and respiratory support. The reduction of time of mechanical ventilation and the expansion of the indications for non-invasive methods of respiratory therapy reduced the incidence of BPD, the severity of the disease and improve the prognosis.

  18. Kidney Dysplasia

    Science.gov (United States)

    ... whose mothers used certain prescription medications or illegal drugs during pregnancy What are the signs of kidney dysplasia? Many ... the use of certain prescription medications or illegal drugs during pregnancy. Pregnant women should talk with their health care ...

  19. 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.

  20. Sponastrime dysplasia

    International Nuclear Information System (INIS)

    Lachman, R.S.; California Univ., Los Angeles, Torrance, CA; Stoss, H.; Spranger, J.

    1989-01-01

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

  1. Pseudoachondroplastic dysplasia.

    Directory of Open Access Journals (Sweden)

    Khungar A

    1993-04-01

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

  2. Frontofacionasal Dysplasia

    African Journals Online (AJOL)

    rme

    226. Frontofacionasal Dysplasia: Another Observation eye. Other ocular features include small eyes, iris colobomas and cataracts. A frontally situated lipoma, causing a swelling at the nasion, was reported in one patient and an encephalocele has been described.3. Mental retardation has been reported in one patient with.

  3. Pictorial essay: Allergic bronchopulmonary aspergillosis

    International Nuclear Information System (INIS)

    Agarwal, Ritesh; Khan, Ajmal; Garg, Mandeep; Aggarwal, Ashutosh N; Gupta, Dheeraj

    2011-01-01

    Allergic bronchopulmonary aspergillosis (ABPA) is the best-known allergic manifestation of Aspergillus-related hypersensitivity pulmonary disorders. Most patients present with poorly controlled asthma, and the diagnosis can be made on the basis of a combination of clinical, immunological, and radiological findings. The chest radiographic findings are generally nonspecific, although the manifestations of mucoid impaction of the bronchi suggest a diagnosis of ABPA. High-resolution CT scan (HRCT) of the chest has replaced bronchography as the initial investigation of choice in ABPA. HRCT of the chest can be normal in almost one-third of the patients, and at this stage it is referred to as serologic ABPA (ABPA-S). The importance of central bronchiectasis (CB) as a specific finding in ABPA is debatable, as almost 40% of the lobes are involved by peripheral bronchiectasis. High-attenuation mucus (HAM), encountered in 20% of patients with ABPA, is pathognomonic of ABPA. ABPA should be classified based on the presence or absence of HAM as ABPA-S (mild), ABPA-CB (moderate), and ABPA-CB-HAM (severe), as this classification not only reflects immunological severity but also predicts the risk of recurrent relapses

  4. Pictorial essay: Allergic bronchopulmonary aspergillosis

    Directory of Open Access Journals (Sweden)

    Ritesh Agarwal

    2011-01-01

    Full Text Available Allergic bronchopulmonary aspergillosis (ABPA is the best-known allergic manifestation of Aspergillus-related hypersensitivity pulmonary disorders. Most patients present with poorly controlled asthma, and the diagnosis can be made on the basis of a combination of clinical, immunological, and radiological findings. The chest radiographic findings are generally nonspecific, although the manifestations of mucoid impaction of the bronchi suggest a diagnosis of ABPA. High-resolution CT scan (HRCT of the chest has replaced bronchography as the initial investigation of choice in ABPA. HRCT of the chest can be normal in almost one-third of the patients, and at this stage it is referred to as serologic ABPA (ABPA-S. The importance of central bronchiectasis (CB as a specific finding in ABPA is debatable, as almost 40% of the lobes are involved by peripheral bronchiectasis. High-attenuation mucus (HAM, encountered in 20% of patients with ABPA, is pathognomonic of ABPA. ABPA should be classified based on the presence or absence of HAM as ABPA-S (mild, ABPA-CB (moderate, and ABPA-CB-HAM (severe, as this classification not only reflects immunological severity but also predicts the risk of recurrent relapses.

  5. Mondini dysplasia

    International Nuclear Information System (INIS)

    Takeda, Taizo; Kakigi, Akinobu; Takeuchi, Shunji; Saito, Haruo

    1992-01-01

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

  6. Markers of Airway Remodeling in Bronchopulmonary Diseases

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    O.Ye. Chernyshova

    2014-10-01

    Full Text Available The article presents information about markers of airway remodeling in bronchopulmonary diseases. There is described the influence of matrix metalloproteinases, tissue inhibitor of matrix metalloproteinase, transforming growth factor, collagen autoantibodies III type, endothelin-1 on the processes of morphological airway reconstruction as smooth muscle hypertrophy, enhanced neovascularization, epithelial cell hyperplasia, collagen deposition, compaction of the basal membrane, observed in bronchial asthma.

  7. 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.

  8. Spondylometaphyseal dysplasia with hypercalcemia

    International Nuclear Information System (INIS)

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

    1989-01-01

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

  9. Congenital bronchopulmonary foregut malformations: concepts and controversies

    International Nuclear Information System (INIS)

    Newman, Beverley

    2006-01-01

    This article addresses the scope, etiology, important associations and imaging features of congenital bronchopulmonary foregut malformations. Etiologic concepts, including airway obstruction and vascular anomalies, are highlighted. Technical imaging advances, especially CT and MR, have greatly enhanced our diagnostic abilities in evaluating these lesions; however, thorough and careful assessment of all aspects of the malformation is still necessary. Several specific lesions are discussed in more detail, particularly regarding controversial issues in classification, understanding, imaging and management. (orig.)

  10. Congenital bronchopulmonary foregut malformations: concepts and controversies

    Energy Technology Data Exchange (ETDEWEB)

    Newman, Beverley [University of Pittsburgh School of Medicine and Children' s Hospital of Pittsburgh, Pittsburgh, PA (United States)

    2006-08-15

    This article addresses the scope, etiology, important associations and imaging features of congenital bronchopulmonary foregut malformations. Etiologic concepts, including airway obstruction and vascular anomalies, are highlighted. Technical imaging advances, especially CT and MR, have greatly enhanced our diagnostic abilities in evaluating these lesions; however, thorough and careful assessment of all aspects of the malformation is still necessary. Several specific lesions are discussed in more detail, particularly regarding controversial issues in classification, understanding, imaging and management. (orig.)

  11. Asphyxiating thoracic dysplasia

    International Nuclear Information System (INIS)

    Franzcr, J.; Kozlowski, K.

    2008-01-01

    Asphyxiating Thoracic Dysplasia is the most frequent form of Small Thorax - Short Rib Syndromes. Asphyxiating Thoracic Dysplasia in two patients with different clinical course is reported. Radiographic examination is the only method to diagnose Asphyxiating Thoracic Dysplasia with certainty. The correct diagnosis is important for prognostication and genetic counseling. It also excludes the necessity of further, often expensive investigations. (author)

  12. 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.

  13. 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

  14. Spondylo-megaepiphyseal-metaphyseal dysplasia: an unusual bone dysplasia

    International Nuclear Information System (INIS)

    Agarwal, Prachi Pragya; Srinivasan, Ashok; Sharma, Raju; Gupta, Arun Kumar; Kabra, Madhulika

    2003-01-01

    A rare case of spondylo-megaepiphyseal-metaphyseal dysplasia is reported in a 10-year-old boy. The features were metaphyseal dysplasia, markedly defective ossification of vertebral body centres and enlarged epiphyses. Although it shares some features with spondylo-metaphyseal dysplasia, oto-spondylo-megaepiphyseal dysplasia and cleidocranial dysplasia, the presence of several unusual radiological findings sets it apart. (orig.)

  15. CT in childhood allergic bronchopulmonary aspergillosis

    International Nuclear Information System (INIS)

    Shah, A.; Bhagat, R.; Panchal, N.; Pant, C.S.

    1992-01-01

    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.)

  16. Genetics Home Reference: boomerang dysplasia

    Science.gov (United States)

    ... Email Facebook Twitter Home Health Conditions Boomerang dysplasia Boomerang dysplasia Printable PDF Open All Close All Enable Javascript to view the expand/collapse boxes. Description Boomerang dysplasia is a disorder that affects the development ...

  17. Progressive pseudorheumatoid dysplasia misdiagnosed as ...

    African Journals Online (AJOL)

    Progressive pseudorheumatoid dysplasia misdiagnosed as seronegative juvenile idiopathic arthritis. Ozgur Taspinar, Fatih Kelesoglu, Yasar Keskin, Murat Uludag. Abstract. Background: Progressive pseudorheumatoid dysplasia (PPD) is a rare spondylo- epi-metaphyseal dysplasia (SEMD). It can be confused with juvenile ...

  18. TREATMENT OF HIP DYSPLASIA

    OpenAIRE

    Iulian ICLEANU; Mariana CORDUN

    2015-01-01

    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 (g...

  19. Spondyloepiphyseal dysplasia congenita

    International Nuclear Information System (INIS)

    Macpherson, R.I.; Wood, B.P.

    1980-01-01

    Spondyloepiphyseal dysplasia congenita is a form of primarily short trunk dwarfism, that is manifest at birth but generally has not been regarded as a cause of lethal neonatal dwarfism. Seven neonates with severe dwarfism are presented. The first survived the newborn period, but the other six were early neonatal deaths. All displayed the clinical and radiologic features of spondyloepiphyseal dysplasia congenita. The striking similarities between spondyloepiphyseal dysplasia congenita and achondrogenesis type 2 are discussed. (orig.) [de

  20. Genetics Home Reference: osteoglophonic dysplasia

    Science.gov (United States)

    ... 1 link) Genetic Testing Registry: Osteoglophonic dysplasia Other Diagnosis and Management Resources (1 link) Seattle Children's Hospital: Dwarfism and Bone Dysplasias General Information from MedlinePlus (5 ...

  1. Bronchopulmonary foregut malformations: embryology, radiology and quandary

    International Nuclear Information System (INIS)

    Barnes, N.A.; Pilling, D.W.

    2003-01-01

    Bronchopulmonary foregut malformations (BPFM) are a heterogeneous group of pulmonary developmental anomalies that present at varying ages and with overlapping symptoms, signs and radiology. This article discusses the embryology of these lesions with reference to possible common origins and the link between aetiology and radiological appearance. The radiology of each lesion, both antenatally and postnatally, is described and illustrated. A number of quandaries exist in the prediction of prognosis and subsequent treatment of BPFM. We discuss the radiological features that may help to elucidate an individual prognosis and aid in the planning of treatment. The treatment options available for BPFM are briefly discussed. Finally, the link between BPFM, in particular cystic adenomatoid malformations and malignancy, is discussed. We aim to provide a comprehensive overview of the embryology, radiology, prognosis and treatment highlighting contentious issues of BPFM. (orig.)

  2. Congenital bronchopulmonary malformation: CT histopathological correlation.

    Science.gov (United States)

    Kyncl, Martin; Koci, Martin; Ptackova, Lea; Hornofova, Ludmila; Ondrej, Fabian; Snajdauf, Jiri; Pychova, Marcela

    2016-12-01

    This study evaluated the accuracy of postnatal computed tomography (CT) imaging in the identification of congenital bronchopulmonary malformation (BPM) in comparison with histopathological analysis. CT scans of prenatally diagnosed BPMs from 24 patients with available histology were analysed retrospectively. The CT images were reviewed blinded to histological findings by two radiologists. Specific diagnosis was assigned based on predetermined criteria. The accuracy of CT was evaluated. The agreement rate in CT diagnosis between two radiologists was 100%. In 75% the lesions were located in the lower lobes. An overlap of 71% in CT and histopathological diagnoses was reached. The least matching diagnosis was type 2 CPAM. Contrast enhanced chest CT is very accurate in characterizing the BPM spectrum and provides important information on lesion type and structure.

  3. CT identification of bronchopulmonary segments: 50 normal subjects

    International Nuclear Information System (INIS)

    Osbourne, D.; Vock, P.; Godwin, J.D.; Silverman, P.M.

    1984-01-01

    A systematic evaluation of the fissures, segmental bronchi and arteries, bronchopulmonary segments, and peripheral pulmonary parenchyma was made from computed tomographic (CT) scans of 50 patients with normal chest radiographs. Seventy percent of the segmental bronchi and 76% of the segmental arteries were identified. Arteries could be traced to their sixth- and seventh-order branches; their orientation to the plane of the CT section allowed gross identification and localization of bronchopulmonary segments

  4. Oculoauriculovertebral dysplasia (Goldenhar's syndrome).

    Science.gov (United States)

    Nkrumah, F K

    1971-03-01

    A case of Goldenhar's Syndrome or Oculoauriculovertebral dysplasia in a Ghanaian infant is described. Significant were the additional findings of congenital esophageal atresia and arthrogryposis which have so far not been reported in association with the syndrome.

  5. Gracile bone dysplasias

    International Nuclear Information System (INIS)

    Kozlowski, Kazimierz; Masel, John; Sillence, David O.; Arbuckle, Susan; Juttnerova, Vera

    2002-01-01

    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.)

  6. Ectodermal dysplasia (ED) syndrome.

    Science.gov (United States)

    Chee, Siew-Yin; Wanga, Chung-Hsing; Lina, Wei-De; Tsaia, Fuu-Jen

    2014-01-01

    Ectodermal dysplasia (ED) syndrome comprises a large, heterogeneous group of inherited disorders that are defined by primary defects in the development of 2 or more tissues derived from the embryonic ectoderm. The tissues primarily involved are the skin and its appendages (including hair follicles, eccrine glands, sebaceous glands, nails) and teeth. The clinical features include sparse hair, abnormal or missing teeth, and an inability to sweat due to lack of sweat glands. One such case report of ectodermal dysplasia is presented here.

  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. 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.)

  9. Cloverleaf skull with generalised bone dysplasia

    International Nuclear Information System (INIS)

    Kozlowski, K.; Warren, P.S.; Fisher, C.C.; Royal Hospital for Women, Camperdown

    1985-01-01

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

  10. Genetic Variants of Surfactant Proteins A, B, C, and D in Bronchopulmonary Dysplasia

    Directory of Open Access Journals (Sweden)

    J. Pavlovic

    2006-01-01

    Full Text Available BPD_28D (O2 dependency at 28 days of life and BPD_36W (O2 dependency at 36 wks post-menstrual age are diseases of prematurely born infants exposed to mechanical ventilation and/or oxygen supplementation. In order to determine whether genetic variants of surfactant proteins (SPs-A, B, C, and D and SP-B-linked microsatellite markers are risk factors in BPD, we performed a family based association study using a Greek study group of 71 neonates (<30 wks gestational age from 60 families with, 52 BPD_28D and 19 BPD_36W, affected infants. Genotyping was performed using newly designed pyrosequencing assays and previously published methods. Associations between genetic variants of SPs and BPD subgroups were determined using Transmission Disequilibrium Test (TDT and Family Based Association Test (FBAT. Significant associations (p ≤ 0.01 were observed for alleles of SP-B and SP-B-linked microsatellite markers, and haplotypes of SP-A, SP-D, and SP-B. Specifically, allele B-18_C associated with susceptibility in BPD_36W. Microsatellite marker AAGG_6 associated with susceptibility in BPD_28D/36W group. Haplotype analysis revealed ten susceptibility and one protective haplotypes for SP-B and SP-B-linked microsatellite markers and two SP-A-SP-D protective haplotypes. The data indicate that SP loci are linked to BPD. Studies in different study groups and/or of larger sample size are warranted to confirm these observations and delineate genetic background of BPD subgroups.

  11. Correlation among cytokines, bronchopulmonary dysplasia and modality of ventilation in preterm newborns: improvement with melatonin treatment.

    Science.gov (United States)

    Gitto, Eloisa; Reiter, Russel J; Sabatino, Giuseppe; Buonocore, Giuseppe; Romeo, Carmelo; Gitto, Placido; Buggé, Concetta; Trimarchi, Giuseppe; Barberi, Ignazio

    2005-10-01

    Improved survival because of advances in neonatal care has resulted in an increased number of infants at risk for chronic lung disease. Even though the etiology of lung injury is multifactorial, recent animal and clinical data indicate that pulmonary damage depends in large part on the ventilatory strategies used. Ventilator-associated lung injury was believed to result from the use of high pressure, thus, the term barotraumas. This trauma is believed to involve free-radical damage. Oxidant injury is a serious cause of lung injury. In the present study, 110 newborns with respiratory distress syndrome were studied; 55 were treated with melatonin and the other 55 with placebo. All the subjects were mechanically ventilated with or without guaranteed volume. Proinflammatory cytokines [interleukin (IL)-6, IL-8 and tumor necrosis factor (TNF)-alpha] were measured in tracheobronchial aspirate and the clinical outcome was evaluated. Melatonin treatment reduced the proinflammatory cytokines and improved the clinical outcome. The beneficial action of melatonin presumably related to its antioxidative actions.

  12. 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

  13. Angiogenic Factors in Cord Blood of Preterm Infants Predicts Subsequently Developing Bronchopulmonary Dysplasia

    Directory of Open Access Journals (Sweden)

    Wen-Chien Yang

    2015-12-01

    Conclusion: Cord blood level of PlGF, rather than VEGF or sFlt-1, was significantly increased in the BPD group. Consistent with our previous report, cord blood level of PlGF may be considered as a biomarker to predict subsequently developing BPD in preterm infants.

  14. Genetics Home Reference: thanatophoric dysplasia

    Science.gov (United States)

    ... thanatophoric dysplasia and their potential therapeutic implications for achondroplasia. Am J Med Genet A. 2010 Jan;152A( ... of fibroblast growth factor receptor 3 disorders: the achondroplasia family of skeletal dysplasias, Muenke craniosynostosis, and Crouzon ...

  15. 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.

  16. Prenatal diagnosis of boomerang dysplasia.

    Science.gov (United States)

    Wessels, Marja W; Den Hollander, Nicolette S; De Krijger, Ronald R; Bonifé, Luisa; Superti-Furga, Andrea; Nikkels, Peter G; Willems, Patrick J

    2003-10-01

    Boomerang dysplasia, atelosteogenesis type 1 and Piepkorn dysplasia are bone dysplasias with an overlapping clinical spectrum characterized by deficient formation and ossification of specific elements of the skeleton. Typical symptoms include micromelia with diminished ossification, and a characteristic bowed and boomerang-like aspect of the long tubular bones. We report here a new case of boomerang dysplasia, which was detected prenatally in the 16th week of gestation by ultrasound. Copyright 2003 Wiley-Liss, Inc.

  17. Bronchoplasty for Primary Broncho-Pulmonary Tumors

    International Nuclear Information System (INIS)

    ABDEL RAHMAN, A.M.

    2010-01-01

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

  18. Meyer's dysplasia epiphysealis

    International Nuclear Information System (INIS)

    Toro P, Alvaro de Jesus; Lopez C, Meisser A

    2005-01-01

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

  19. 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.

  20. 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...

  1. Allergic bronchopulmonary aspergillosis as a cause of bronchial ...

    African Journals Online (AJOL)

    Background: Allergic bronchopulmonary aspergillosis (ABPA) occurs in patients with asthma and cystic fibrosis. When aspergillus fumigatus spores are inhaled they grow in bronchial mucous as hyphae. It occurs in non immunocompromised patients and belongs to the hypersensitivity disorders induced by Aspergillus.

  2. Ectodermal Dysplasia: A Case Report

    Science.gov (United States)

    2011-01-01

    Ectodermal dysplasia is a hereditary disease characterized by dysplasia of tissues of ectodermal origin. The incidence of ectodermal dysplasia is rare (1 in 100,000 birth). This case report discusses the features, classification and prosthetic treatment plan (upper partial denture and lower complete denture for upper partial and lower complete edentulous arches respectively). This treatment plan would be able to provide psychological and functional boost to the sufferer. PMID:27678241

  3. Familial ectodermal dysplasia: a peers' agony.

    Science.gov (United States)

    Hegde, Karthik; Kashyap, Roopashri Rajesh; Nair, Gopakumar; Nair, Preeti P

    2013-07-23

    Ectodermal dysplasias include a various group of inherited disorders which share primary defect in the development of two or more tissues of embryonic ectodermal origin. Though there are many subtypes, ectodermal dysplasias are mainly hidrotic ectodermal dysplasia and hypohidrotic ectodermal dysplasia, among which the most common variety is X linked hypohidrotic ectodermal dysplasia. We report a rare case of X linked hypohidrotic ectodermal dysplasia occurring in a family with various skin, hair and oral abnormalities.

  4. Cloverleaf skull with generalised bone dysplasia

    Energy Technology Data Exchange (ETDEWEB)

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

    1985-09-01

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

  5. A Clinical Evaluation of Definitive and Clinical Allergic Bronchopulmonary Mycosis

    OpenAIRE

    Matsuse, Hiroto; Nakata, Hiroko; Fukahori, Susumu; Tsuchida, Tomoko; Kawano, Tetsuya; Tomari, Shinya; Fukushima, Chizu; Matsuo, Nobuko; Asai, Sadahiro; Kohno, Shigeru

    2006-01-01

    Objective: The present study aims to overcome problems associated with the early diagnosis of allergic bronchopulmonary mycosis (ABPM) using the current criteria. Patients and Methods: Clinical features including radiographic findings from 10 patients with definitive ABPM based on the diagnostic criteria of Rosenberg-Patterson were compared with those from 9 patients with ABPM clinically diagnosed by respiratory allergy specialists. Results: ABPM should be considered in patients with peripher...

  6. 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...

  7. Pacman dysplasia: a lethal skeletal dysplasia with variable radiographic features

    Energy Technology Data Exchange (ETDEWEB)

    Miller, S.F. [Dept. of Radiology, Children' s Hospital of the King' s Daughters, Norfolk (United States); Proud, V.K. [Dept. of Genetics, Children' s Hospital of the King' s Daughters, Norfolk (United States); Werner, A.L. [Dept. of Pathology, Children' s Hospital of the King' s Daughters, Norfolk (United States); Field, F.M.; Wilcox, W.F.; Lachman, R.S.; Rimoin, D.L. [International Skeletal Dysplasia Registry, Cedars-Sinai Medical Center, Los Angeles (United States)

    2003-04-01

    Background: Punctate or stippled cartilaginous calcifications are associated with many conditions, including chromosomal, infectious, endocrine, and teratogenic etiologies. Some of these conditions are clinically mild, while others are lethal. Accurate diagnosis can prove instrumental in clinical management and in genetic counseling. Objective: To describe the diagnostic radiographic features seen in Pacman dysplasia, a distinct autosomal recessive, lethal skeletal dysplasia. Materials and methods: We present the fourth reported case of Pacman dysplasia and compare the findings seen in our patient with the three previously described patients. Results: Invariable and variable radiographic findings were seen in all four cases of histologically proven Pacman dysplasia. Conclusion: Pacman dysplasia presents both constant and variable diagnostic radiographic features. (orig.)

  8. Fibrous dysplasia of bone

    International Nuclear Information System (INIS)

    Kim, Kyung Soo; Lee, Sang Wook; Cho, Young Jun; Kim, Young Sook

    1983-01-01

    Fibrous dysplasia of bone is a skeletal development anomaly of unknown etiology characterized by single or multiple areas of fibrous tissue replacement of medullary cavity of one or more bones. The disease may be localized to single bone (monostotic form) or may affect multiple bones (polyostotic form). Eighteen cases of fibrous dysplasia diagnosed by roentgenlogic or histologic assessment at Chosun University Hospital, Chosun University Hospital and Kwangju Christian Hospital during recent ten tears were analyzed clinically and radiologically. The results were as follows: 1. 16 case of them had monostotic involvement, and 2 cases showed polyostotic disease, but none of our series presented Albright's syndrome. 2. The male to female ratio in this series was 10 : 8, but then 2 polyostotic forms of them were females. In age distribution, peak incidence at the time of diagnosis was in the age group of second decade (10 cases). 3. Maxilla (6 cases) and femur (4 case) were frequently involved sites in patients with monostotic lesion, whereas polyostotic lesions diffusely affected skull, pelvis, ribs and limb bones. 4. The clinical symptoms according to the extent and site of disease were very variable, which were localized painless or painful swelling, nasal obstruction, deformity of face or extremity and incidentally during routine roentgen study. 5. The chemical abnormality of blood serum was moderate degree of elevated serum alkaline phosphatase in only one patients with monostotic lesion. 6. The main radiologic findings of fibrous dysplasia were relatively well circumscribed single or multiloculated cystilike appearance, bone expansion, cortical thinning and/or erosion, bony deformity and pathologic fracture, but especially in maxilla, dense homogenous area with expanding lesion was observed in our series

  9. Going With the Flow: An Aid in Detecting and Differentiating Bronchopulmonary Sequestrations and Hybrid Lesions.

    Science.gov (United States)

    Oliver, Edward R; DeBari, Suzanne E; Giannone, Mariann M; Pogoriler, Jennifer E; Johnson, Ann M; Horii, Steven C; Gebb, Juliana S; Howell, Lori J; Adzick, N Scott; Coleman, Beverly G

    2018-02-01

    To assess the ability of prenatal ultrasound (US) in identifying systemic feeding arteries in bronchopulmonary sequestrations and hybrid lesions and report the ability of US in classifying bronchopulmonary sequestrations as intralobar or extralobar. Institutional Review Board-approved radiology and clinical database searches from 2008 to 2015 were performed for prenatal lung lesions with final diagnoses of bronchopulmonary sequestrations or hybrid lesions. All patients had detailed US examinations, and most patients had ultrafast magnetic resonance imaging (MRI). Lesion location, size, and identification of systemic feeding arteries and draining veins were assessed with US. The study consisted of 102 bronchopulmonary sequestrations and 86 hybrid lesions. The median maternal age was 30 years. The median gestational age was 22 weeks 5 days. Of bronchopulmonary sequestrations, 66 had surgical pathologic confirmation, and 100 had postnatal imaging. Bronchopulmonary sequestration locations were intrathoracic (n = 77), intra-abdominal (n = 19), and transdiaphragmatic (n = 6). Of hybrid lesions, 84 had surgical pathologic confirmation, and 83 had postnatal imaging. Hybrid lesion locations were intrathoracic (n = 84) and transdiaphragmatic (n = 2). Ultrasound correctly identified systemic feeding arteries in 86 of 102 bronchopulmonary sequestrations and 79 of 86 hybrid lesions. Of patients who underwent MRI, systemic feeding arteries were reported in 62 of 92 bronchopulmonary sequestrations and 56 of 81 hybrid lesions. Ultrasound identified more systemic feeding arteries than MRI in both bronchopulmonary sequestrations and hybrid lesions (P < .01). Magnetic resonance imaging identified systemic feeding arteries that US did not in only 2 cases. In cases in which both systemic feeding arteries and draining veins were identified, US could correctly predict intrathoracic lesions as intralobar or extralobar in 44 of 49 bronchopulmonary sequestrations and

  10. Keratoprosthesis in Ectodermal Dysplasia.

    Science.gov (United States)

    Wozniak, Rachel A F; Gonzalez, Mithra; Aquavella, James V

    2016-07-01

    To describe the complex surgical management and novel medical approach for a keratoprosthesis (KPro Boston type I) in a monocular, 73-year-old patient with ectodermal dysplasia and chronic, noninfectious corneal necrosis. Best-corrected visual acuity (BCVA) was measured with Snellen letters. Surgical intervention included an amniotic membrane graft, complete replacement of the KPro, conjunctival flap graft, corneal donor tissue grafts combined with inferior rectus muscle advancement, periosteal tissue graft, tarso-conjunctival flap construction, and symblepharolysis. Infliximab was used as a medical adjunctive therapy. Initial KPro placement provided a BCVA of 20/25 and long-term stability. Subsequent chronic melting at the optic border necessitated numerous surgeries to prevent extrusion and failure. Ultimate fistulization was addressed with the formation of a surgical pocket. The addition of infliximab promoted ocular surface stability, and the patient has maintained a BCVA of 20/80. Ectodermal dysplasia can result in eyelid and corneal abnormalities, requiring a KPro for visual restoration. In the setting of chronic, sterile corneal melt, novel surgical approaches and the off-label use of infliximab allowed for visual rehabilitation.

  11. Right pulmonary aplasia, aberrant left pulmonary artery, and bronchopulmonary sequestration with an esophageal bronchus

    International Nuclear Information System (INIS)

    Lee, Peter; McCauley, Roy; Westra, Sjirk; Baba, Timothy

    2006-01-01

    Pulmonary aplasia and bronchopulmonary foregut malformations in which a patent communication between the foregut and the pulmonary system is present are rare congenital abnormalities. Pulmonary aplasia associated with a pulmonary sling is an even rarer abnormality. We report a unique case of right pulmonary aplasia, aberrant left pulmonary artery, and bronchopulmonary sequestration with an esophageal bronchus diagnosed by multidetector helical CT. (orig.)

  12. Fibrous dysplasia and cherubism

    Directory of Open Access Journals (Sweden)

    Surajit Bhattacharya

    2015-01-01

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

  13. Intralobar bronchopulmonary sequestration with large aberrant vessel presenting as recurrent pneumonias

    International Nuclear Information System (INIS)

    Noomani, A.Z.; Toori, K.U.

    2014-01-01

    Bronchopulmonary sequestration is a rare congenital malformation of the lower respiratory tract comprising of a nonfunctioning lung tissue mass that lacks normal communication with the tracheobronchial tree. The diagnosis may be easily missed as many of the symptoms of bronchopulmonary sequestration overlap with that of other pulmonary diseases. Bronchopulmonary sequestration can be complicated by recurrent infections, hemorrhage and malignant transformation and, therefore, needs to be timely diagnosed and resected to decrease both morbidity and mortality. A high degree of suspicion in the differential diagnosis helps diagnose the positive cases. The parenchymal abnormalities associated with bronchopulmonary sequestration are best visualized using computed tomography, although their appearance is variable. We report the case of a 14 years old boy with intralobar bronchopulmonary sequestration with the sole manifestation of recurrent pneumonias. (author)

  14. Evaluation of Ectodermal Dysplasia

    Directory of Open Access Journals (Sweden)

    Zelal Baskan

    2006-04-01

    Full Text Available This case series report outlines possible cranio-maxillofacial deformation consequences associated with ectodermal dysplasia (ED and embryonic malformations, including dental agenesis. Also described are the oral aspects and rehabilitation. A total of 14 ED patients (7 males and 7 females, aged 5-45 years underwent clinical examination before assessment and treatment. Lateral cephalometric radiography, Steiner's analysis, and respiratory capacity tests were performed. Most of the patients had sparse or absent hair, a short face with an unusual facial concavity, a maxillary retrusion, and a relative mandible protrusion. Depending on age and orthopedic abnormalities, patients were treated with prosthodontic and orthodontic approaches or implant treatment. Therapists should take a comprehensive and multidisciplinary approach with these patients to improve their dental, masticatory, growth, and orthognathic conditions, as well as esthetic appearance.

  15. Arrhythmogenic right ventricular dysplasia

    International Nuclear Information System (INIS)

    Vignolo Puglia, W.; Freire Colla, D.; Rivara Urrutia, D.; Lujambio Grene, M.; Arbiza Bruno, T.; Oliveira, G.; Cobas Rodriguez, J.

    1997-01-01

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

  16. Spectrum of Misdiagnosis of Allergic Bronchopulmonary Mycosis: Case Reports

    Directory of Open Access Journals (Sweden)

    Sandeep Rana

    2018-01-01

    Full Text Available Allergic bronchopulmonary mycosis (ABPM is most commonly seen in cystic fibrosis and bronchial asthma. Most of patients are misdiagnosed at initial outpatient department visit due to low suspicion, lack of awareness of entity and similarity in clinical symptoms and radiological findings with other common pulmonary diseases. Pulmonary tuberculosis is the most common entity diagnosed, and anti-tubercular treatment is the most commonly abused chemotherapy. Careful history taking, astute initial examination and awareness may help in curbing wrong diagnosis and treatment. This article present two cases of ABPM who were initially misdiagnosed as pulmonary tuberculosis and carcinoma lung, respectively.

  17. 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.

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

    International Nuclear Information System (INIS)

    Sumner, T.E.; Auringer, S.T.; Cox, T.D.

    1997-01-01

    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

  19. Miliary nodules in a patient of allergic bronchopulmonary aspergilosis.

    Science.gov (United States)

    Khan, N A; Sumon, S M; Rahman, A; Hossain, M A; Ferdous, J; Bari, M R

    2014-04-01

    Allergic bronchopulmonary aspergilosis (ABPA) is immunological pulmonary disease caused by hypersensitivity of aspergillus fumigatus usually occurs in patients with chronic asthma, cystic fibrosis and bronchiactasis. This disease may present with divers radiological presentation like; fleeting pulmonary opacities, bronchiactasis, mucoid impaction, perihilar opacity (hailer lymphadenopathy), and lung mass or pleural effusion. We describe the case of a 30 year old housewife who presented with progressive dysponea, low grade fever, dry cough, weight loss and miliary nodule in chest radiograph and high-resolution CT (HRCT) in a tertiary level hospital of Bangladesh. A diagnosis of ABPA was established on the basis of sputum routine microscopy and culture examination for fungus (Aspergillus).

  20. Genetics Home Reference: metatropic dysplasia

    Science.gov (United States)

    ... is a skeletal disorder characterized by short stature (dwarfism) with other skeletal abnormalities. The term "metatropic" is ... my area? Other Names for This Condition metatropic dwarfism metatropic dysplasia type 1 Related Information How are ...

  1. Oral epithelial dysplasia classification systems

    DEFF Research Database (Denmark)

    Warnakulasuriya, S; Reibel, J; Bouquot, J

    2008-01-01

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

  2. Septooptic dysplasia : a case report

    International Nuclear Information System (INIS)

    Kim, Jung Hae; Choi, Dae Seob; Lee, Chang Wook; Kim, Soon; Kim, Seung Hyeon; Lee, Sung Woo; Ha, Jung Ho; Sakong, Jung Kyu; Lee, Hyeon Kyeong

    2001-01-01

    Septooptic dysplasia is a rare anterior midline anomaly considered to be a mild form of lobar holoprosencephaly. We describe a case with unilateral optic nerve hypoplasia and the absence of a septum pellucidum

  3. Genetics Home Reference: frontonasal dysplasia

    Science.gov (United States)

    ... respective protein. As a result, the regulation of cell organization during development of the head and face is ... Craniofacial Association: A Guide to Understanding Frontonasal Dysplasia (PDF) Disease InfoSearch: ... Organization for Rare Disorders (NORD) Operation Smile Resource List ...

  4. Jansen type of spondylometaphyseal dysplasia

    International Nuclear Information System (INIS)

    Campbell, J.B.; Kozlowski, K.; Lejman, T.; Sulko, J.

    2000-01-01

    Metaphyseal dysplasia, type Jansen (JMD), is a rare skeletal dysplasia with characteristic radiographic abnormalities. Of the various types of metaphyseal dysplasia, JMD shows the most severe alteration in metaphyseal architecture. All of the long tubular bones, including those of the hands and feet, show metaphyseal irregularity with a fragmented appearance and slight widening. The adjacent physes are abnormally widened, while the epiphyses tend to be slightly enlarged, rounded but otherwise normal. The spine in infancy and childhood usually appears normal. This report describes a young girl with metaphyseal changes typical of JMD except for the hands and feet, which appeared normal. She also showed very unusual abnormalities of the spine. This appears, therefore, to represent a unique osteochondrodysplasia for which we propose the term spondylometaphyseal dysplasia, type Jansen. (orig.)

  5. Fibromuscular dysplasia of renal arteries

    International Nuclear Information System (INIS)

    Akhtar, N.; Ahmed, T.M.

    2007-01-01

    This case reports a young child having uncontrolled hypertension, resulting from bilateral renal artery stenosis due to fibromuscular dysplasia presenting with abdominal pain, headache and visual disturbance. Diagnostic features and management is discussed. (author)

  6. Focal cortical dysplasia – review

    International Nuclear Information System (INIS)

    Kabat, Joanna; Król, Przemysław

    2012-01-01

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

  7. [Cochleovestibular dysplasia: a case report].

    Science.gov (United States)

    Darbi, A; Cenoui, F; Atmane, A; Amil, T; Hanine, A

    2010-04-01

    Cochleovestibular dysplasia or Mondini malformation is exceptional. Cochlear dysplasia is due to early cessation of the development of the inner ear during embryonic life. We report on the case of an infant who presented with perception deafness and repeated meningitis. CT allowed the diagnosis of Mondini malformation. We underline the importance of high-resolution CT in the diagnosis of Mondini malformation. Copyright 2010 Elsevier Masson SAS. All rights reserved.

  8. Perfusion lung scintigraphy in primary broncho-pulmonary cancer

    International Nuclear Information System (INIS)

    Lapergue, Paul.

    1976-01-01

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

  9. 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.

  10. 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.

  11. Progressive pseudorheumatoid dysplasia

    International Nuclear Information System (INIS)

    Mampaey, S.; De Schepper, A.; Vanhoenacker, F.; Boven, K.; Hul, W. van

    2000-01-01

    A rare case of progressive pseudorheumatoid dysplasia (PPD) in a 9-year-old girl is presented. Clinically, chronic painless swollen joints, accompanied by progressive motion restriction and progressive walking difficulties, were found. Radiologically, there was enlargement of the epimetaphyseal portions of the large joints, metacarpal heads, and phalanges, and generalized platyspondyly with irregular delineation of the endplates of the vertebral bodies. The radioclinical features at the peripheral joints were originally misdiagnosed as juvenile rheumatoid arthritis (JRA), and the structural spinal abnormalities were neglected and interpreted as Scheuermann's disease. However, the absence of active inflammatory parameters argues against JRA, whereas the low age of onset of the irregularities at the vertebral endplates is an argument against the diagnosis of Scheuermann's disease. The combination of the dysplastic abnormalities of the spine, with platyspondyly and Scheuermann-like lesions at an unusually low age of onset, and radiological features mimicking JRA of the peripheral joints, is the clue to the diagnosis of this rare autosomal-recessive disease. This case is the first to document the MRI features of PPD of the spine. (orig.)

  12. Spondylometaphyseal dysplasia with hypercalcemia. [Radiological studies

    Energy Technology Data Exchange (ETDEWEB)

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

    1989-08-01

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

  13. Ectodermal dysplasia: a genetic review.

    Science.gov (United States)

    Deshmukh, Seema; Prashanth, S

    2012-09-01

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

  14. 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.

  15. 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.

  16. 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. 2015 BMJ Publishing Group Ltd.

  17. 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

  18. Longitudinal evaluation of bronchopulmonary disease in children with cystic fibrosis.

    Science.gov (United States)

    Farrell, Philip M; Li, Zhanhai; Kosorok, Michael R; Laxova, Anita; Green, Christopher G; Collins, Jannette; Lai, Hui-Chuan; Makholm, Linda M; Rock, Michael J; Splaingard, Mark L

    2003-09-01

    Children with cystic fibrosis (CF) develop bronchopulmonary disease at variable ages. Determining the epidemiology of chronic lung disease and quantifying its severity, however, have been difficult in infants and young children. As part of the Wisconsin CF Neonatal Screening Project, we were presented with an ideal opportunity to assess longitudinally the evolution of symptoms, signs, and quantitative measures of CF respiratory disease. After newborn screening test results led to early recognition, 64 patients diagnosed at a median age of 6.71 weeks were enrolled and studied systematically at a median age of 11.3 years to obtain clinical information, chest radiographs, and pulmonary function tests. Our observations revealed that a frequent cough by history is evident by 10.5 months of age in half the patients. Quantitative chest radiology (CXR scoring) demonstrated that potentially irreversible abnormalities are present in half the children by 2 years. The severity of Wisconsin and Brasfield CXR scores increased in association with respiratory infections. Longitudinal progression of Wisconsin CXR scores was related to age (P < 0.001), pancreatic insufficiency (P = 0.005), and respiratory secretion cultures positive for Staphylococus aureas (P = 0.039). In contrast, serial spirometry showed limited sensitivity, as did lung volume determinations; neither was satisfactory as repeated measures with acceptable quality control until after 7 years of age. Time to event analyses revealed that half the patients had % predicted FEF(25-75) and FEV(1)/FVC values greater than 80% until 10.7 and 9.9 years, respectively. We conclude that of the methods evaluated, quantitative chest radiology is currently the best procedure for frequent assessment of bronchopulmonary disease in CF, and that radiographic progression is evident in approximately 85% of patients by 5 years of age. Our results also suggest that bronchiectasis and other radiographic evidence of chronic infection are

  19. Intralobar bronchopulmonary sequestration: A case and brief review

    Directory of Open Access Journals (Sweden)

    Majumdar U

    2018-06-01

    Full Text Available Objective: Bronchopulmonary sequestration is a rare congenital abnormality of the lower respiratory tract, seen mostly in children but often in adults. The term implies a mass of lung tissue that has no function and lacks normal communication with the rest of the tracheobronchial tree. Case: A 40-year-old man presented with acute onset of left flank pain for 4 hours. He was born in Yemen and emigrated to the US in 1998; at that time, he had been tested for tuberculosis which was negative. In this admission, he met systemic inflammatory response (SIRS criteria and had basilar crackles in the left lower lobe of the lung. CT scan revealed a cavitary lesion with air-fluid level in the left lower lobe airspace. There was systemic arterial blood supply to this region arising off the celiac axis. He was diagnosed with an infected intralobar bronchopulmonary sequestration and underwent video-assisted thoracoscopic wedge resection. On follow up 3 months later, he was doing well. Discussion: Pulmonary sequestration is a rare congenital anomaly of a mass of lung tissue, which can have cystic changes and is a very important differential diagnosis of cavities in the lung. Confirmation of diagnosis is by visualization of a systemic vessel supplying sequestrated pulmonary, and this is accomplished by contrast-enhanced CT scan, MRI or invasive angiography. Conclusion: The delay in diagnosis in our patient was due to falling prey to anchoring and availability biases and chasing the diagnosis of tuberculosis in a patient from Yemen with a lower lobe cavitation.

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

    International Nuclear Information System (INIS)

    Kondrat'ev, V.O.

    2000-01-01

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

  1. Thanatophoric Dysplasia: A Rare Entity

    Directory of Open Access Journals (Sweden)

    N.S. Naveen

    2011-05-01

    Full Text Available Thanatophoric dysplasia is the lethal skeletal dysplasia characterized by marked underdevelopment of the skeleton and short-limb dwarfism. The child will be having a short neck, narrow thoracic cage and protuberant abdomen. Other anatomical features include a relatively enlarged head with frontal bossing, prominent eyes, hypertelorism and the depressed nasal bridge. The diagnosis is usually made with the ultrasonography in the second trimester. In this study we report a case of this rare entity with emphasis on its anatomical features, abnormalities and clinical profile with relevant review of literature.

  2. Clinical Characteristics of 118 Cases of Chronic Obstructive Pulmonary Disease Complicated with Primary Bronchopulmonary Carcinoma

    Directory of Open Access Journals (Sweden)

    Songlin ZHAO

    2017-08-01

    Full Text Available Background and objective The aim of this study is to investigate the clinical characteristics of patients with primary bronchopulmonary carcinoma complicated with chronic obstructive pulmonary disease (COPD, and to optimize the early diagnoses in the coexistence of COPD and primary bronchopulmonary carcinoma. Methods The clinical data of 118 patients with COPD complicated with primary bronchopulmonary carcinoma were analyzed retrospectively, including age, sex, smoking history, smoking index, clinical symptoms and signs, pathological type, staging, metastasis site and lung function index. 120 patients with simple COPD were selected as control. Results The smoking rate (55.1% and smoking index ≥400 branch /year (90.8% of the patients with COPD complicated with primary bronchopulmonary carcinoma were higher than the simple COPD group (20.8%, 48.0%. The difference between the two groups was statistically significant (P0.05, while the incidence of hemoptysis, weight loss, chest pain, hoarseness, pleural effusion and atelectasis were significantly higher than those in simple COPD group (P0.05, but the diffusing capacity of carbon monoxide (DLCO of COPD patients complicated with primary bronchopulmonary carcinoma was lower than that of simple COPD patients (P<0.05 . In the COPD patients with primary bronchopulmonary carcinoma, squamous cell carcinoma was the most common pathological type (51.7%. Male patients were mainly squamous cell carcinoma (60.7%, while female patients with adenocarcinoma (69.0%. Conclusion COPD combined with primary bronchopulmonary carcinoma occurs in male smokers more. There is higher incidence of squamous cell carcinoma. When they are first diagnosed, most of them are advanced or located late, due to no specific clinical symptoms at the early stages. Periodic chest CT examination for COPD patients can help early diagnoses of primary bronchopulmonary carcinoma.

  3. Dentomaxillofacial characteristics of ectodermal dysplasia.

    Science.gov (United States)

    Nakayama, Yumiko; Baba, Yoshiyuki; Tsuji, Michiko; Fukuoka, Hiroki; Ogawa, Takuya; Ohkuma, Mizue; Moriyama, Keiji

    2015-02-01

    The aim of this retrospective hospital-based study was to elucidate the dentomaxillofacial characteristics of ectodermal dysplasia. Six Japanese individuals (one male and five female; age range, 12.7-27.2 years) underwent comprehensive examinations, including history recording, cephalometric analysis, panoramic radiography, and analysis of dental models. All the subjects had two or more major manifestations for clinical diagnosis of ectodermal dysplasia (e.g., defects of hair, teeth, nails, and sweat glands). They presented hypodontia (mean number of missing teeth, 9.5; range, 5-14), especially in the premolar region, and enamel dysplasia. Five subjects had bilateral molar occlusion, whereas one subject had unilateral molar occlusion. The common skeletal features were small facial height, maxillary hypoplasia, counterclockwise rotation of the mandible, and mandibular protrusion. Interestingly, the maxillary first molars were located in higher positions and the upper anterior facial height was smaller than the Japanese norm. The results suggest that vertical and anteroposterior maxillary growth retardation, rather than lack of occlusal support due to hypodontia, leads to reduced anterior facial height in individuals with ectodermal dysplasia. © 2014 Japanese Teratology Society.

  4. Cranioectodermal Dysplasia : A Probable Ciliopathy

    NARCIS (Netherlands)

    Konstantinidou, Anastasia E.; Fryssira, Helen; Sifakis, Stavros; Karadimas, Charalampos; Kaminopetros, Petros; Agrogiannis, Georgios; Velonis, Stylianos; Nikkels, Peter G. J.; Patsouris, Efstratios

    2009-01-01

    Cranioectodermal dysplasia (CED), also known as Sensenbrenner syndrome, is a rare autosomal recessive genetic disorder characterized by typical craniofacial, skeletal and ectodermal defects, and tubulointerstitial nephritis leading to early end-stage renal failure. We report on a new familial case

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

    Science.gov (United States)

    Koul, Monika; Dwivedi, Rahul; Upadhyay, Vinod

    2014-01-01

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

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

    OpenAIRE

    Koul, Monika; Dwivedi, Rahul; Upadhyay, Vinod

    2014-01-01

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

  7. Therapeutic Bronchoalveolar Lavage with Conventional Treatment in Allergic Bronchopulmonary Aspergillosis

    International Nuclear Information System (INIS)

    Khalil, K. F.

    2015-01-01

    Objective: To establish the role of therapeutic bronchoalveolar lavage in addition to conventional treatment among two groups, with allergic bronchopulmonary aspergillosis, in terms of regression in serum IgE levels and clinical recurrence at 3 and 6 months of follow-up. Study Design: Aquasi-experimental study. Place and Duration of Study: Department of Pulmonology, Fauji Foundation Hospital, Rawalpindi, from July 2010 to December 2013. Methodology: The study was carried out on 132 patients who fulfilled the Greenberger and Patterson criteria and underwent a chest X-ray, an HRCT chest and classified radiologically as with Central Bronchiectasis (CB), High Attenuation Mucus (HAM) or Other Radiological Features (ORF). Baseline serum IgE levels were noted. All patients were given treatment including prednisolone and antifungal agent itraconazole for 4 months. Patients with ORF on HRCT chest and just received the medical treatment were labeled as conventional group. Those patients who had CB or HAM radiological features also underwent bronchoscopy with therapeutic Bronchoalveolar Lavage (BAL), labeled as BAL group. Clinical recurrence and serum IgE levels were noted at 3 and 6 months. Values were compared using chi-square and Mann-Whitney tests respectively. Results: Around 78 (59.1 percentage) of patients underwent bronchoscopy with therapeutic bronchoalveolar lavage to remove the mucus plugs. The mean serum IgE levels at baseline were 3312.04 ± 2526.217 and 3486.15 ± 2528.324 IU/ml in the BAL and conventional groups respectively. There was a statistically significant reduction in the mean serum IgE levels at 3 (p < 0.00) and 6 months (p < 0.001) of follow-up in BALas compared to conventional group. There was no significant difference in the clinical recurrence rate in both the groups (p=0.078 at 3 and 0.343 at 6 months respectively). Conclusion: Therapeutic bronchoalveolar lavage may be a useful adjunct to treatment in patients with allergic bronchopulmonary

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

    Directory of Open Access Journals (Sweden)

    O. I. Afanaseva

    2015-01-01

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

  9. Intralobar bronchopulmonary sequestration in the newborn - a congenital malformation

    International Nuclear Information System (INIS)

    Laurin, S.; Haegerstrand, I.

    1999-01-01

    Background. Intralobar sequestration (ILS) has been suggested to be an acquired lesion. However, we have observed several young infants who had ILS. Objectives. Since this fact seems to indicate a congenital origin, we reviewed our experience. Material and methods. A retrospective review of bronchopulmonary sequestration from the Departments of Radiology and Pathology in Lund between 1964 and 1997. Results. We identified seven infants or young children with a diagnosis of intralobar sequestration. In each patient, the ILS was present before recurrent infection developed. Five had chest X-rays as neonates, one at 3 months and one at 11 months of age. All but one showed an abnormality on their first chest X-ray, consistent with sequestration. Six of the ILS were verified at angiography; all seven were surgically removed. Two of the children with ILS also had congenital cystic adenomatoid malformation (CCAM). Three children had both ILS and scimitar syndrome. Conclusions. The fact that ILS was present in seven newborn and young infants indicates that this lesion is, at least in some patients, a congenital malformation. (orig.)

  10. Allergic bronchopulmonary aspergillosis in patients with cystic fibrosis

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    Ibrahim Ahmed Janahi

    2017-01-01

    Full Text Available Allergic bronchopulmonary aspergillosis (ABPA is a pulmonary disorder that often occurs in patients with asthma or cystic fibrosis (CF and is characterized by a hypersensitivity response to the allergens of the fungus Aspergillus fumigatus. In patients with CF, growth of A. fumigatus hyphae within the bronchial lumen triggers an immunoglobulin E (IgE-mediated hypersensitivity response that results in airway inflammation, bronchospasm, and bronchiectasis. In most published studies, the prevalence of ABPA is about 8.9% in patients with CF. Since the clinical features of this condition overlap significantly with that of CF, ABPA is challenging to diagnose and remains underdiagnosed in many patients. Diagnosis of ABPA in CF patients should be sought in those with evidence of clinical and radiologic deterioration that is not attributable to another etiology, a markedly elevated total serum IgE level (while off steroid therapy and evidence of A. fumigatus sensitization. Management of ABPA involves the use of systemic steroids to reduce inflammation and modulate the immune response. In patients who do not respond to steroids or cannot tolerate them, antifungal agents should be used to reduce the burden of A. fumigatus allergens. Recent studies suggest that omalizumab may be an effective option to reduce the frequency of ABPA exacerbations in patients with CF. Further randomized controlled trials are needed to better establish the efficacy of omalizumab in managing patients with CF and ABPA.

  11. Complex orthopaedic management of patients with skeletal dysplasias

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    A. G. Baindurashvili

    2014-01-01

    Full Text Available Skeletal dysplasias are challenging for diagnostics and treatment. We present a series of fifteen patients with different forms of skeletal dysplasias with age ranged from 6 to 17 years with variable clinical presentations managed as a part of the project of scientific cooperation between Turner Paediatric Orthopaedic Institute and Orthopaedic Hospital Vienna-Speising. The spectrum of diagnoses included multiple epiphyseal dysplasia, spondyloepiphyseal dysplasia congenita, diastrophic dysplasia, metaphyseal dysplasia, spondylometaphyseal dysplasia, Stickler syndrome, Kniest dysplasia, and anauxetic dysplasia. Complex treatment, which included axial correction and juxta-articular realignment, was performed as a single-stage, or consecutive surgery. Surgical techniques included corrective osteotomies with internal fixation, guided growth technique and external fixation devices. Best results (full axial correction, normal alignment of the joint were achieved in 8 patients, including 2 patients with metaphyseal dysplasia, 2 patients with multiple epyphyseal dysplasia, 2 patients with spondyloepyphyseal dysplasia, patient with Stickler syndrome and patient with spondylometaphyseal dysplasia. Good results (partial correction at the present time were seen in 4 patients (2 patients with Kniest dysplasia, 1 - with multiple epyphyseal dysplasia and 1 - with anauxetic dysplasia. Satisfactory results (non-progressive condition in previous progression were obtained in 2 patients with diastrophic dysplasia, and poor results (progression of the deformity - in 1 patient with diastrophic dysplasia. Positive results in most of the cases of our series make promising future for usage of complex approach for orthopedic management of children with skeletal dysplasias; advanced international cooperation is productive and helpful for diagnostics and management of rare diseases.

  12. Craniofacial features of cleidocranial dysplasia

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    Chin-Yun Pan

    2017-12-01

    Full Text Available Cleidocranial dysplasia (CCD is an autosomal-dominant malformation syndrome affecting bones and teeth. The most common skeletal and dental abnormalities in affected individuals are hypoplastic/aplastic clavicles, open fontanelles, short stature, retention of primary teeth, delayed eruption of permanent teeth, supernumerary teeth, and multiple impacted teeth. Treatment of CCD requires a multidisciplinary approach that may include dental corrections, orthognathic surgery and cranioplasty along with management of any complications of CCD. Early diagnosis of this condition enables application of the treatment strategy that provides the best quality of life to such patients. Notably, Runx2 gene mutations have been identified in CCD patients. Therefore, further elucidation of the molecular mechanism of supernumerary teeth formation related to Runx2 mutations may improve understanding of dental development in CCD. The insights into CCD pathogenesis may assist in the development of new treatments for CCD. Keywords: cleidocranial dysplasia, mutation, Runx2, supernumerary teeth

  13. Cleidocranial dysplasia: a case report

    International Nuclear Information System (INIS)

    Kim, Jae Duk; Lee, Chang Yul; You, Choong Hyun

    2004-01-01

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

  14. Cleidocranial dysplasia: a case report

    International Nuclear Information System (INIS)

    Han, Jin Won

    2005-01-01

    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.

  15. Ectodermal dysplasia in identical twins

    OpenAIRE

    Puttaraju, Gurkar Haraswarupa; Visveswariah, Paranjyothi Magadi

    2013-01-01

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

  16. Bronchopulmonary hygiene physical therapy in bronchiectasis and chronic obstructive pulmonary disease: a systematic review.

    Science.gov (United States)

    Jones, A; Rowe, B H

    2000-01-01

    This study had two objectives: (1) to examine the effects of bronchopulmonary hygiene physical therapy on patients with chronic obstructive pulmonary disease and bronchiectasis; (2) to determine any differences between manual and mechanical techniques for bronchopulmonary hygiene physical therapy. The study design was a systematic review of the literature that used an exhaustive search for trials and review methods prescribed by the Cochrane Collaboration. Randomized controlled trials examined patient groups, interventions, and dependent variables. Patients included those with chronic obstructive pulmonary diseases (emphysema or chronic bronchitis) or bronchiectasis. Any of the following interventions or combinations thereof were included: manual interventions, such as postural drainage, chest percussion, vibration, chest shaking, directed coughing, or forced exhalation technique. Controls of the study were as follows: no intervention; placebo; coughing; and mechanical interventions, such as mechanical vibration. The search identified 99 potential trials; inclusion or exclusion analysis left 7, which examined a total of 126 patients. Mean score on trial quality was 1.4 (5 = greatest). Three separate trials (N = 51) found statistically significant effects for bronchopulmonary hygiene physical therapy on sputum production and radioaerosol clearance. No trials (N = 126) found statistically significant effects on pulmonary function variables or differences between manual and mechanical techniques. Considering the small sizes, low quality, and mixed results from the trials, the research on bronchopulmonary hygiene physical therapy is inconclusive. There is a need for adequately sized, high-quality, randomized controlled trials with uniform patient populations to examine the effects of bronchopulmonary hygiene physical therapy.

  17. Mondini Dysplasia Presenting as Otorrhea without Meningitis

    OpenAIRE

    Chien-Yu Lin; Hung-Ching Lin; Chun-Chih Peng; Kuo-Sheng Lee; Nan-Chang Chiu

    2012-01-01

    Mondini dysplasia is a rare inner ear malformation that is usually only diagnosed after recurrent meningitis. Surgical intervention is mandatory. This report highlights the case of a patient with Mondini dysplasia who presented with hearing impairment and otorrhea and was diagnosed and treated before the occurrence of meningitis, thus preventing morbidity and neurologic sequelae. Hearing impairment may be the only manifestation of Mondini dysplasia, and the benefit of hearing screening is emp...

  18. Congenital distal humeral dysplasia: a case report

    International Nuclear Information System (INIS)

    Joseph, Benjamin; Varghese, Renjit A.

    2003-01-01

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

  19. Lower Lid Ectropion in Hypohidrotic Ectodermal Dysplasia

    Directory of Open Access Journals (Sweden)

    Xiaoyun Zhang

    2015-01-01

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

  20. A case report of the fibrous dysplasia

    Energy Technology Data Exchange (ETDEWEB)

    You, Dong Soo [Department of Radiology, College of Dentistry, Seoul National University, Seoul (Korea, Republic of)

    1975-11-15

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

  1. Pelvic radiograph in skeletal dysplasias: An approach

    Directory of Open Access Journals (Sweden)

    Manisha Jana

    2017-01-01

    Full Text Available The bony pelvis is constituted by the ilium, ischium, pubis, and sacrum. The pelvic radiograph is an important component of the skeletal survey performed in suspected skeletal dysplasia. Most of the common skeletal dysplasias have either minor or major radiological abnormalities; hence, knowledge of the normal radiological appearance of bony pelvis is vital for recognizing the early signs of various skeletal dysplasias. This article discusses many common and some uncommon radiological findings on pelvic radiographs along with the specific dysplasia in which they are seen; common differential diagnostic considerations are also discussed.

  2. A case report of the fibrous dysplasia

    International Nuclear Information System (INIS)

    You, Dong Soo

    1975-01-01

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

  3. Presentation of hypohidrotic ectodermal dysplasia in two siblings

    Directory of Open Access Journals (Sweden)

    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.

  4. Fibrous dysplasia of the femoral neck

    International Nuclear Information System (INIS)

    Savage, P.E.; Stoker, D.J.

    1984-01-01

    Fibrous dysplasia of the femur is usually observed in the intertrochanteric region. It is rarely confined to the femoral neck. We present four cases illustrating the radiographic appearance and spectrum of this condition which all showed the relatively lucent variety of fibrous dysplasia with varying degrees of expansion and surrounding sclerosis. The natural history of this condition is discussed. (orig.)

  5. Bone scintigraphy in polyostotic fibrous dysplasia

    Energy Technology Data Exchange (ETDEWEB)

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

    1998-03-01

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

  6. Mondini dysplasia with recurrent meningitis.

    Science.gov (United States)

    Lu, M Y; Lee, P I; Lee, C Y; Hsu, C J

    1996-01-01

    Mondini dysplasia is a congenital malformation of the inner ear, commonly associated with hearing impairment, cerebrospinal fluid otorrhea/rhinorrhea and recurrent meningitis. Two such cases are described, with hearing impairment, cerebrospinal fluid rhinorrhea, and several episodes of meningitis. Diagnosis was confirmed by high-resolution computed tomography. After surgical correction of the malformation, there was no recurrent episode of meningitis at subsequent follow-up. To avoid the suffering and the sequelae of recurrent meningitis, an early diagnosis and prompt surgical intervention are crucial for such patients.

  7. Cochlear implantation in Mondini dysplasia.

    Science.gov (United States)

    Daneshi, Ahmad; Hassanzadeh, Saeid; Abasalipour, Parvaneh; Emamdjomeh, Hessamaddin; Farhadi, Mohammad

    2003-01-01

    The use of cochlear implantation to treat patients with inner ear malformations such as Mondini dysplasia has been increasingly successful. Until now, conventional hearing aids in these patients have not performed well. Consequently, the hearing problem for patients with this condition has been somewhat improved with the use of cochlear implants. Various results of cochlear implantation have been reported in these patients so far. This is a report of 5 patients with Mondini malformation who have undergone cochlear implant surgery. Copyright 2003 S. Karger AG, Basel

  8. Cleidocranial dysplasia: A family report

    Directory of Open Access Journals (Sweden)

    Chelvan H

    2009-01-01

    Full Text Available A 10-year-old girl presented with a chief complaint of many unerupted teeth. Complete clinical and radiological examination of this patient confirmed the diagnosis of cleidocranial dysplasia (CCD. Her father also presented similar features with a lesser clinical severity. CCD is an autosomal-dominant heritable skeletal disease caused by heterozygous mutations in the osteoblast-specific transcription factor RUNX2 gene. Failure of tooth eruption is probably mainly due to this mutated gene in CCD patients. Interdisciplinary treatment approach is obligatory for rehabilitation of these patients. In confirmed cases, genetic counseling for family planning should certainly be advised.

  9. Ectodermal dysplasia in identical twins

    Directory of Open Access Journals (Sweden)

    Gurkar Haraswarupa Puttaraju

    2013-01-01

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

  10. MRI of focal cortical dysplasia

    International Nuclear Information System (INIS)

    Lee, B.C.P.; Hatfield, G.A.; Bourgeois, B.; Park, T.S.

    1998-01-01

    We studied nine cases of focal cortical dysplasia (FCD) by MRI, with surface-rendered 3D reconstructions. One case was also examined using single-voxel proton MR spectroscopy (MRS). The histological features were reviewed and correlated with the MRI findings. The gyri affected by FCD were enlarged and the signal of the cortex was slightly increased on T1-weighted images. The gray-white junction was indistinct. Signal from the subcortical white matter was decreased on T1- and increased on T2-weighted images in most cases. Contrast enhancement was seen in two cases. Proton MRS showed a spectrum identical to that of normal brain. (orig.) (orig.)

  11. 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

  12. Omalizumab Treatment for Allergic Bronchopulmonary Aspergillosis in Cystic Fibrosis.

    Science.gov (United States)

    Emiralioglu, Nagehan; Dogru, Deniz; Tugcu, Gokcen Dilsa; Yalcin, Ebru; Kiper, Nural; Ozcelik, Ugur

    2016-03-01

    Allergic bronchopulmonary aspergillosis (ABPA) in cystic fibrosis (CF) is characterized by destructive changes in the airways. Long-term treatment with oral corticosteroids is often required for repeated exacerbations. Because elevated total IgE is a cardinal abnormality of ABPA, omalizumab has been used sporadically to decrease corticosteroid dose or totally replace corticosteroids. The aim of this report is to describe our experience with omalizumab treatment in patients with CF and ABPA. We conducted a review of 6 CF patients with ABPA receiving omalizumab. All patients were treated with oral prednisolone and itraconazole. Omalizumab was started if the patient was not responding to steroid treatment, which was determined according to serum IgE levels and/or clinical findings or depending on if there were side effects caused by steroid treatment. The mean age of patients at the beginning of omalizumab treatment was 16.1 years. One patient had a new diagnosis of ABPA; however, the others had the first to third exacerbation when treated with omalizumab. The mean duration of ABPA by the time that treatment with omalizumab started was 13 ± 12.4 months (range = 2-29 months). With omalizumab treatment, IgE levels were decreased in all patients, and Aspergillus-specific IgE levels were decreased in 4 patients; however, FEV1(% predicted) improved only in 2 patients who had mild disease. Corticosteroids were reduced in the first, second, and third months of omalizumab treatment in 2, 1, and 3 patients, respectively. In 2 patients, steroid treatment was stopped. None of the patients suffered from side effects of omalizumab. The mean duration of omalizumab treatment was 12.5 months (range = 6-18 months). This study showed steroid-sparing effect, decreasing IgE levels, and improvement in respiratory symptoms in 6 CF patients with omalizumab treatment. Although this is a small sample of the population, omalizumab may be an alternative therapy for ABPA in CF patients who fail

  13. A case of allergic bronchopulmonary aspergillosis successfully treated with mepolizumab.

    Science.gov (United States)

    Terashima, Takeshi; Shinozaki, Taro; Iwami, Eri; Nakajima, Takahiro; Matsuzaki, Tatsu

    2018-03-27

    Allergic bronchopulmonary aspergillosis (ABPA) is an allergic pulmonary disease comprising a complex hypersensitivity reaction to Aspergillus fumigatus. Clinical features of ABPA are wheezing, mucoid impaction, and pulmonary infiltrates. Oral corticosteroids and anti-fungal agents are standard therapy for ABPA, but long-term use of systemic corticosteroids often causes serious side effects. A 64-year-old woman was diagnosed with ABPA based on a history of bronchial asthma (from 40 years of age), elevated total IgE, the presence of serum precipitating antibodies and elevated specific IgE antibody to A. fumigatus, and pulmonary infiltration. Bronchoscopy showed eosinophilic mucoid impaction. Systemic corticosteroid therapy was initiated, and her symptoms disappeared. Peripheral eosinophilia and pulmonary infiltration recurred five months after cessation of corticosteroid treatment. Systemic corticosteroids were re-initiated and itraconazole was added as an anti-fungal agent. The patient was free of corticosteroids, aside from treatment with a short course of systemic corticosteroids for asthma exacerbation, and clinically stable with itraconazole and asthma treatments for 3 years. In 2017, she experienced significant deterioration. Laboratory examination revealed marked eosinophilia (3017/μL) and a chest computed tomography (CT) scan demonstrated pulmonary infiltration in the left upper lobe and mucoid impaction in both lower lobes. The patient was treated with high-dose inhaled corticosteroid/long-acting beta-agonist, a long-acting muscarinic antagonist, a leukotriene receptor antagonist, and theophylline; spirometry revealed a forced expiratory volume in 1 s (FEV 1 ) of 1.01 L. An uncontrolled asthma state was indicated by an Asthma Control Test (ACT) score of 18. Mepolizumab, 100 mg every 4 weeks, was initiated for the treatment of severe bronchial asthma with ABPA exacerbation. Bronchial asthma symptoms dramatically improved, and ACT score increased to 24

  14. 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%;

  15. Congenital bronchopulmonary foregut malformation initially diagnosed as esophageal atresia type C: challenging diagnosis and treatment

    NARCIS (Netherlands)

    Boersma, Doeke; Koot, Bart G.; van der Griendt, Erik Jonas; van Rijn, Rick R.; van der Steeg, Alida F.

    2012-01-01

    Communicating bronchopulmonary foregut malformations are extremely rare congenital malformations, characterized by a communicating fistula between an isolated part of the respiratory system and the esophagus or the stomach. In this article, we present a case of esophageal atresia type C, later

  16. US of the hips in skeletal dysplasias and chromosomal aberrations

    International Nuclear Information System (INIS)

    Langer, R.; Langer, M.F.J.; Zwicker, C.

    1987-01-01

    Since January 1984 all newborns and infants with skeletal dysplasias and chromosomal aberrations were investigated by hip US, in addition to plain x-ray surveys. The authors observed one chondroectodermal dysplasia, one congenital spondyloepiphysial dysplasia, one cleidocranial dysplasia, one fibrochondrogenesis, two diastrophic dysplasias, and eight trisomies. The abnormalities of the hip joints could be demonstrated, and were compared with the findings on plain films. Especially skeletal dysplasias with abundant presence of cartilage were well visible. The newborn with trisomies showed normal hip joints. In the authors' opinion, all newborns with skeletal dysplasias should be investigated by hip sonography, in addition to skeletal radiography

  17. Ectodermal dysplasia: otolaryngologic evaluation of 23 cases.

    Science.gov (United States)

    Yildirim, Muzeyyen; Yorgancilar, Ediz; Gun, Ramazan; Topcu, Ismail

    2012-02-01

    The aim of this prospective study was to improve the quality of life of and reduce morbidity for patients with ectodermal dysplasia by assessing their actual and potential ENT pathologies, and offering methods of prevention and treatment. The study was conducted between 2006 and 2008 and included 23 patients diagnosed with ectodermal dysplasia. The major symptoms of ectodermal dysplasia were evaluated. Patient histories were obtained in all cases, and a complete head and neck examination was carried out. Of the 23 patients (11 males and 12 females, aged 5 to 45 years) diagnosed with ectodermal dysplasia, 22 had hypohidrotic ectodermal dysplasia and 1 had ectrodactyly-ectodermal dysplasia-clefting syndrome. In all patients diagnosed with hypohidrotic ectodermal dysplasia, the salivary glands were examined by ultrasonography and, when necessary, by scintigraphy. Hearing defects in patients with otologic problems were determined by audiometric examination: 39.1% of the patients had hearing loss, 43.5% had otitis media, and 39.1% had impacted cerumen. The most common rhinologic findings were saddle nose deformity in 56.5%, nasal obstruction and nasal dryness (52.2% each), and chronic rhinitis/rhinosinusitis (34.8%). The most common oral and oropharyngeal findings were difficulty chewing in 82.6% and dry mouth in 78.3%. All 23 patients had required dental work. Because this disorder affects several aspects of the body, its treatment requires a multidisciplinary approach, with the otolaryngologist being a vital part of the management team.

  18. Multiple Epiphyseal Dysplasia (MED: A Rare Type of Skeletal Dysplasia

    Directory of Open Access Journals (Sweden)

    Mohammad Imnul Islam

    2012-06-01

    Full Text Available Multiple epiphyseal dysplasia (MED is a congenital disorder of skeletal development that primarily affects the ends of long bones, causing progressive joint and bone inflammation and short stature. Mutations in several genes are responsible for pathogenesis of this disease. We are reporting a case of MED who presented with the complaints of multiple swelling of the joints which was associated with pain during movement for last seven years. The patient had flexion deformity of all the affected joints along with restriction of movement. These were associated with kyphosis, pectus carnitum, knock-knee and short stature. Radiological findings were suggestive of MED. Counseling was done with the parents regarding the etiology, progression and outcome of the disease.DOI: http://dx.doi.org/10.3329/bsmmuj.v5i1.11025 BSMMU J 2012; 5(1:57-60 

  19. Anhidrotic ectodermal dysplasia presenting as atrophic rhinitis.

    Science.gov (United States)

    Barman, Debasis; Mandal, Satadal; Nandi, Santanu; Banerjee, Pranabashish; Rashid, M A

    2011-11-01

    Ectodermal dysplasia is a complex group of familial disorders with numerous clinical characteristics, with an incidence of 7 in 10000 born alive children. Ectodermal dysplasia affects structures of ectodermal origin like the skin and its appendages as well as other non-ectodermal structures. The most common sites of involvement are the defects in the skin, hair, teeth, nails and sweat glands,which are of ectodermal origin. Though the dermatologists and paediatricians often manage such cases, we report one case of ectodermal dysplasia presenting with atrophic rhinitis.

  20. Mondini Dysplasia Presenting as Otorrhea without Meningitis

    Directory of Open Access Journals (Sweden)

    Chien-Yu Lin

    2012-12-01

    Full Text Available Mondini dysplasia is a rare inner ear malformation that is usually only diagnosed after recurrent meningitis. Surgical intervention is mandatory. This report highlights the case of a patient with Mondini dysplasia who presented with hearing impairment and otorrhea and was diagnosed and treated before the occurrence of meningitis, thus preventing morbidity and neurologic sequelae. Hearing impairment may be the only manifestation of Mondini dysplasia, and the benefit of hearing screening is emphasized. Temporal bone computed tomography should be considered in children with unilateral sensorineural or mixed-type hearing impairment.

  1. Mondini dysplasia presenting as otorrhea without meningitis.

    Science.gov (United States)

    Lin, Chien-Yu; Lin, Hung-Ching; Peng, Chun-Chih; Lee, Kuo-Sheng; Chiu, Nan-Chang

    2012-12-01

    Mondini dysplasia is a rare inner ear malformation that is usually only diagnosed after recurrent meningitis. Surgical intervention is mandatory. This report highlights the case of a patient with Mondini dysplasia who presented with hearing impairment and otorrhea and was diagnosed and treated before the occurrence of meningitis, thus preventing morbidity and neurologic sequelae. Hearing impairment may be the only manifestation of Mondini dysplasia, and the benefit of hearing screening is emphasized. Temporal bone computed tomography should be considered in children with unilateral sensorineural or mixed-type hearing impairment. Copyright © 2012. Published by Elsevier B.V.

  2. Cleidocranial Dysplasia: Report of Two Cases

    Directory of Open Access Journals (Sweden)

    Avinash Kshar

    2010-01-01

    Full Text Available Cleidocranial dysplasia constitutes a congenital disorder manifested primarily in the development of facial and cranial bones, as well as partial development or complete absence of the clavicles and problems also arise on the number and eruption of teeth. It is a rare disease with autosomal dominant but 40% cases represented spontaneous mutations. This disease has no sex predilection. It is characterized by a generalized skeletal dysplasia. 1 In this article we are reporting two cases of cleidocranial dysplasia in son and father with characteristic clinical and radiographic features.

  3. Developmental hip dysplasia in adolescence

    Directory of Open Access Journals (Sweden)

    Vukašinović Zoran

    2009-01-01

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

  4. Thanatophoric dysplasia: Antenatal to postmortem

    Directory of Open Access Journals (Sweden)

    Chanabasappa V Chavadi

    2015-01-01

    Full Text Available Thanatophoric dwarfism (TD, literally meaning death seeking dwarf, is the most common form of lethal bone dysplasia characterized by severe micromelia, extra folds of skin and narrow chest. Other signs include small ribs, underdeveloped lungs, cloverleaf skull, hypertelorism and protuberant abdomen. A short neck, depressed nasal bridge and hypoplastic mandible may also be present. Hydrocephalus is uncommon but is another poor prognostic sign. The diagnosis is usually made with the ultrasonography in the second trimester. Based on the morphological characters, this condition is sub-divided into type 1 and type 2. Fetuses with this condition are either still-born or die shortly after birth. Antenatal sonographic, postpartum radiological and autopsy findings of a case of type 1 TD with a relatively uncommon association of hydrocephalus is discussed.

  5. Ectodermal Dysplasia Skin Fragility Syndrome

    Directory of Open Access Journals (Sweden)

    Ayça Alan Atalay

    2014-06-01

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

  6. Camptomelic dysplasia: A case report

    Directory of Open Access Journals (Sweden)

    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. .

  7. Acro-mesomelic dysplasia - a new type

    International Nuclear Information System (INIS)

    Brahimi, L.; Bacha, L.; Kozlowski, K.; Massen, R.; Zenati, M.

    1988-01-01

    Two siblings who represent a new type of acro-mesomelic dysplasia are reported. The unique pattern of the acro-mesomelic hypoplastic/dysplastic changes allows us to designate as a new syndrome. (orig.)

  8. Andhidrotic ectodermal dysplasia-autosomal recessive form

    Directory of Open Access Journals (Sweden)

    Inamadar Arun

    1994-01-01

    Full Text Available Anhidrotic ectodermal dysplasia with classical features in 2 sisters is reported. The mode of inheritance in these seems to be autosomal recessive; which is a very rare occurrence.

  9. CT Imaging of Craniofacial Fibrous Dysplasia

    Directory of Open Access Journals (Sweden)

    Zerrin Unal Erzurumlu

    2015-01-01

    Full Text Available Fibrous dysplasia is a benign fibroosseous bone dysplasia that can involve single (monostotic or multiple (polyostotic bones. Monostotic form is more frequent in the jaws. It is termed as craniofacial fibrous dysplasia, when it involves, though rarely, adjacent craniofacial bones. A 16-year-old girl consulted for a painless swelling in the right posterior mandible for two years. Panoramic radiography revealed ground-glass ill-defined lesions in the three different regions of the maxilla and mandible. Axial CT scan (bone window showed multiple lesions involving skull base and facial bones. Despite lesions in the skull base, the patient had no abnormal neurological findings. The lesion was diagnosed as fibrous dysplasia based on radiological and histopathological examination. In this paper, CT findings and differential diagnosis of CFD are discussed. CT is a useful imaging technique for CFD cases.

  10. Anti-IgE therapy for allergic bronchopulmonary aspergillosis in people with cystic fibrosis.

    Science.gov (United States)

    Jat, Kana R; Walia, Dinesh K; Khairwa, Anju

    2018-03-18

    Cystic fibrosis is an autosomal recessive multisystem disorder with an approximate prevalence of 1 in 3500 live births. Allergic bronchopulmonary aspergillosis is a lung disease caused by aspergillus-induced hypersensitivity with a prevalence of 2% to 15% in people with cystic fibrosis. The mainstay of treatment includes corticosteroids and itraconazole. The treatment with corticosteroids for prolonged periods of time, or repeatedly for exacerbations of allergic bronchopulmonary aspergillosis, may lead to many adverse effects. The monoclonal anti-IgE antibody, omalizumab, has improved asthma control in severely allergic asthmatics. The drug is given as a subcutaneous injection every two to four weeks. Since allergic bronchopulmonary aspergillosis is also a condition resulting from hypersensitivity to specific allergens, as in asthma, it may be a candidate for therapy using anti-IgE antibodies. Therefore, anti-IgE therapy, using agents like omalizumab, may be a potential therapy for allergic bronchopulmonary aspergillosis in people with cystic fibrosis. This is an updated version of the review. To evaluate the efficacy and adverse effects of anti-IgE therapy for allergic bronchopulmonary aspergillosis in people with cystic fibrosis. We searched the Cochrane Cystic Fibrosis Trials Register, compiled from electronic database searches and handsearching of journals and conference abstract books. We also searched the reference lists of relevant articles and reviews. Last search: 29 September 2017.We searched two ongoing trial registries (Clinicaltrials.gov and the WHO trials platform). Date of latest search: 24 January 2018. Randomized and quasi-randomized controlled trials comparing anti-IgE therapy to placebo or other therapies for allergic bronchopulmonary aspergillosis in people with cystic fibrosis. Two review authors independently extracted data and assessed the risk of bias in the included study. They planned to perform data analysis using Review Manager. Only one

  11. Aspergillus fumigatus in cystic fibrosis: An update on immune interactions and molecular diagnostics in allergic bronchopulmonary aspergillosis.

    Science.gov (United States)

    Carsin, A; Romain, T; Ranque, S; Reynaud-Gaubert, M; Dubus, J-C; Mège, J-L; Vitte, J

    2017-11-01

    A wide spectrum of pathological conditions may result from the interaction of Aspergillus fumigatus and the immune system of its human host. Allergic bronchopulmonary aspergillosis is one of the most severe A. fumigatus-related diseases due to possible evolution toward pleuropulmonary fibrosis and respiratory failure. Allergic bronchopulmonary aspergillosis occurs almost exclusively in cystic fibrosis or asthmatic patients. An estimated 8%-10% of patients with cystic fibrosis experience this condition. The diagnosis of allergic bronchopulmonary aspergillosis relies on criteria first established in 1977. Progress in the understanding of host-pathogen interactions in A. fumigatus and patients with cystic fibrosis and the ongoing validation of novel laboratory tools concur to update and improve the diagnosis of allergic bronchopulmonary aspergillosis. © 2017 EAACI and John Wiley and Sons A/S. Published by John Wiley and Sons Ltd.

  12. Bilateral anophthalmia with septo-optic dysplasia

    Directory of Open Access Journals (Sweden)

    Manisha Jana

    2010-01-01

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

  13. Renal dysplasia in a Rhodesian Ridgeback dog

    International Nuclear Information System (INIS)

    Lobetti, R.G.; Pearson, J.; Jimenez, M.

    1996-01-01

    A six-month-old Rhodesian ridgeback dog was presented for evaluation of facial swelling. Chronic renal failure was clinically diagnosed based on urinalysis, biochemical changes and ultrasonography. The facial swelling was due to fibrous osteodystrophy, which was evident on survey radiographs of the skull. On post mortem examination, chronic renal failure as a result of renal dysplasia was confirmed. This is the first reported case of renal dysplasia in this breed of dog

  14. Hip dysplasia and congenital hip dislocation

    Energy Technology Data Exchange (ETDEWEB)

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

    1981-11-01

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

  15. Dysplasia epiphysealis hemimelica of the tibial tubercle

    Energy Technology Data Exchange (ETDEWEB)

    Thacker, M.M.; Scully, S.P.; Pitcher, J.D.; Temple, H. Thomas [University of Miami, Department of Orthopedics and Rehabilitation, FL (United States); Azouz, E.M. [University of Miami, Department of Radiology, FL (United States)

    2006-03-15

    Dysplasia epiphysealis hemimelica (DEH) is a rare skeletal dysplasia with epiphyseal involvement first described by Mouchet and Belot in 1926. Lower extremity involvement is common and might involve a single or multiple epiphyses in the affected extremity. We report an unusual case of involvement of the tibial tubercle in a girl aged 4 years 8 months, and we present the clinical, radiographic and pathologic findings. We discuss the role of MRI in the diagnosis and treatment plan. (orig.)

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

    NARCIS (Netherlands)

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

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

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

    Directory of Open Access Journals (Sweden)

    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.

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

    International Nuclear Information System (INIS)

    Antonov, N.S.; Yakushin, S.P.; Stulova, O.Yu.; Zajtseva, O.Yu.; Stroev, E.A.

    1998-01-01

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

  19. The mathematical pathogenetic factors analysis of acute inflammatory diseases development of bronchopulmonary system among infants

    Directory of Open Access Journals (Sweden)

    G. O. Lezhenko

    2017-10-01

    Full Text Available The purpose. To study the factor structure and to establish the associative interaction of pathogenetic links of acute diseases development of the bronchopulmonary system in infants.Materials and methods. The examination group consisted of 59 infants (average age 13.8 ± 1.4 months sick with acute inflammatory bronchopulmonary diseases. Also we tested the level of 25-hydroxyvitamin D (25(ОНD, vitamin D-binding protein, hBPI, cathelicidin LL-37, ß1-defensins, lactoferrin in blood serum with the help of immunoenzymometric analysis. Selection of prognostically important pathogenetic factors of acute bronchopulmonary disease among infants was conducted using ROC-analysis. The procedure for classifying objects was carried out using Hierarchical Cluster Analysis by the method of Centroid-based clustering. Results. Based on the results of the ROC-analysis were selected 15 potential predictors of the development of acute inflammatory diseases of the bronchopulmonary system among infants. The factor analysis made it possible to determine the 6 main components . The biggest influence in the development of the disease was made by "the anemia factor", "the factor of inflammation", "the maternal factor", "the vitamin D supply factor", "the immune factor" and "the phosphorus-calcium exchange factor” with a factor load of more than 0.6. The performed procedure of hierarchical cluster analysis confirmed the initial role of immuno-inflammatory components. The conclusions. The highlighted factors allowed to define a group of parameters, that must be influenced to achieve a maximum effect in carrying out preventive and therapeutic measures. First of all, it is necessary to influence the "the anemia factor" and "the calcium exchange factor", as well as the "the vitamin D supply factor". In other words, to correct vitamin D deficiency and carry out measures aimed at preventing the development of anemia. The prevention and treatment of the pathological course of

  20. Expansive focal cemento-osseous dysplasia.

    Science.gov (United States)

    Bulut, Emel Uzun; Acikgoz, Aydan; Ozan, Bora; Zengin, Ayse Zeynep; Gunhan, Omer

    2012-01-01

    To present a case of expansive focal cemento-osseous dysplasia and emphasize the importance of differential diagnosis. Cemento-osseous dysplasia is categorized into three subtypes on the basis of the clinical and radiographic features: Periapical, focal and florid. The focal type exhibits a single site of involvement in any tooth-bearing or edentulous area of the jaws. These lesions are usually asymptomatic; therefore, they are frequently diagnosed incidentally during routine radiographic examinations. Lesions are usually benign, show limited growth, and do not require further surgical intervention, but periodic follow-up is recommended because occasionally, this type of dysplasia progresses into florid osseous dysplasia and simple bone cysts are formed. A 24-year-old female patient was referred to our clinic for swelling in the left edentulous mandibular premolarmolar region and felt discomfort when she wore her prosthetics. She had no pain, tenderness or paresthesia. Clinical examination showed that the swelling in the posterior mandible that was firm, nonfluctuant and covered by normal mucosa. On panoramic radiography and computed tomography, a well defined lesion of approximately 1.5 cm in diameter of mixed density was observed. The swelling increased slightly in size over 2 years making it difficult to use prosthetics and, therefore, the lesion was totally excised under local anesthesia, and surgical specimens were submitted for histopathological examination. The histopathological diagnosis was focal cemento-osseous dysplasia. In the present case, because of the increasing size of the swelling making it difficult to use prosthetics, young age of the patient and localization of the lesion, in the initial examination, cemento-ossifying fibroma was suspected, and the lesion was excised surgically; the histopathological diagnosis confirmed it as focal cemento-osseous dysplasia. We present a case of expansive focal cemento-osseous dysplasia. Differential diagnosis

  1. [Role of PET/CT in primitive non-small cell bronchopulmonary cancer].

    Science.gov (United States)

    Soumia, Fdil; Leila, Achachi; Mohamed, Raoufi; Laila, Herrak; Mustapha, Elftouh

    2017-01-01

    Bronchopulmonary cancer is a real public health problem. Morphological imaging plays a central role in its diagnosis, staging as well as post-therapeutic assessment but it has some limitations. Metabolic imaging is a more recent technique which allows to significantly improve the overall imagery performance. We conducted a retrospective, descriptive and analytical study at the Ibn Sina Hospital and at the Military Hospital of instruction Mohammed V in Rabat over a period of 18 months, between September 2014 and February 2016, in order to evaluate the role of Fluorodeoxyglucose-PET/CT in the staging and restaging of non-small cell bronchopulmonary cancer. Initial staging showed a vast majority of locally advanced and metastatic stages: stage IV (40%), Stage IIIB (36%), Stage IIIA (16%), Stage II (8%). PET-CT allowed to detect new sites which were not initially seen on CT scan in 24 cases: 15 new ganglion sites, 8 new adrenal sites and 6 sites of bone lesions. PET/CT allowed to modify initial tumor stage in 60% of cases: upstaging in 23 patients (46%) and downstaging in 7 patients(14%). The initial stage remained unchanged in 40% of patients. Our study confirms the data from the literature concerning the superiority of PET-CT in comparison with CT scan, but only in the optimization of the non-small cell bronchopulmonary cancer management, in particular in locoregional and distant staging.

  2. Progressive pseudorheumatoid dysplasia in North and West Africa ...

    African Journals Online (AJOL)

    Progressive pseudorheumatoid dysplasia is a rare autosomal recessive spondyloepiphyseal dysplasia characterized by predominant involvement of articular cartilage with progressive joint stiffness and enlargement in the absence of inflammation. Short stature, joint contractures, gait disturbance, and scoliosis and/or ...

  3. Locally Aggressive Fibrous Dysplasia Mimicking Malign Calvarial Lesion.

    Science.gov (United States)

    Ogul, Hayri; Keskin, Emine

    2018-05-01

    Fibrous dysplasia is an unusual benign bone tumor. It is divided into 3 groups as monostotic, polyostotic, and craniofacial form. The authors reported an unusual patient with fibrous dysplasia with an aggressive radiologic appearance.

  4. Spondylometaepiphyseal dysplasia in a mother and her child

    Energy Technology Data Exchange (ETDEWEB)

    Pettersson, H; Nilsson, K O [Section of Pediatric Radiology, Department of Diagnostic Radiology, and the Department of Pediatrics, Malmoe Allmaenna Sjukhus, Malmoe, Sweden

    1979-01-01

    Variant types of spondylometaepiphyseal dysplasia in a mother and her child is reported. Several stages of the disorder are presented, demonstrating the principal difficulties in distinguishing variant types of skeletal dysplasia.

  5. Ectodermal dysplasia associated with sickle cell disease.

    Science.gov (United States)

    Volpato, Luiz Evaristo Ricci; Volpato, Maria Carmen Palma Faria; de Carvalhosa, Artur Aburad; Palma, Vinicius Canavarros; Borges, Alvaro Henrique

    2014-01-01

    Ectodermal dysplasia and sickle cell anaemia are inherited disorders that affect, respectively, the tissues derived from the embryonic ectoderm and the production of erythrocytes by the bone marrow. The simultaneous occurrence of both disorders is extremely rare. This is a case of both ectodermal dysplasia and sickle cell anaemia reported in a 6-year-old. The patient had been diagnosed with sickle cell anaemia for only six months when he sought treatment presenting with the following: hypotrichosis, dry skin, periocular hyperpigmentation, protruding lips, hypodontia, and morphologically altered teeth. The clinical features combined with his medical history led to the diagnosis of ectodermal dysplasia. Dentists should be prepared to recognise patterns that escape normality to aid in the diagnosis of systemic changes, even in patients with other previous diagnoses.

  6. Ectodermal Dysplasia Associated with Sickle Cell Disease

    Directory of Open Access Journals (Sweden)

    Luiz Evaristo Ricci Volpato

    2014-01-01

    Full Text Available Ectodermal dysplasia and sickle cell anaemia are inherited disorders that affect, respectively, the tissues derived from the embryonic ectoderm and the production of erythrocytes by the bone marrow. The simultaneous occurrence of both disorders is extremely rare. This is a case of both ectodermal dysplasia and sickle cell anaemia reported in a 6-year-old. The patient had been diagnosed with sickle cell anaemia for only six months when he sought treatment presenting with the following: hypotrichosis, dry skin, periocular hyperpigmentation, protruding lips, hypodontia, and morphologically altered teeth. The clinical features combined with his medical history led to the diagnosis of ectodermal dysplasia. Dentists should be prepared to recognise patterns that escape normality to aid in the diagnosis of systemic changes, even in patients with other previous diagnoses.

  7. Adamantinoma, osteofibrous dysplasia and differentiated adamantinoma

    International Nuclear Information System (INIS)

    Kahn, Leonard B.

    2003-01-01

    For just over 100 years, adamantinoma has been recognized as a primary bone tumor with epithelial characteristics and predominantly involving the tibia. Osteofibrous dysplasia is a fibro-osseous lesion also predominantly confined to the tibia with radiologic features similar to those of adamantinoma. This lesion has been shown by immunohistochemical studies to frequently contain cytokeratin-positive epithelial cells. More recently, a third group of cases with clinical and radiologic features similar to those of osteofibrous dysplasia have demonstrated more overt strands of epithelial cells within a fibro-osseous background and have been categorized as ''differentiated'', ''regressive'', ''juvenile intracortical'' or ''osteofibrous dysplasia-like'' adamantinoma. Cytokeratin subset immunohistochemical stains and cytogenetic studies performed in recent years suggest a common histogenesis for these three entities. This article reviews the clinical, radiologic and pathologic features of these entities as well as their prognostic significance. It also reviews the results of the immunohistochemical and cytogenetic studies which establish a common histogenetic relationship. (orig.)

  8. Variable manifestations of dysplasia epiphysealis hemimelica

    Energy Technology Data Exchange (ETDEWEB)

    Azouz, E.M.; Slomic, A.M.; Marton, D.; Rigault, P.; Finidori, G.

    1985-01-01

    Dysplasia epiphysealis hemimelica (DEH) is an osteocartilaginous overgrowth involving one or multiple epiphyses or ossification centers, usually in a lower extremity on one side of the body. Characteristically the involvement is hemimelic, i.e., either the medial or lateral part of the ossification center is involved. The authors have studied 24 patients with DEH and are adding 15 new cases to the literature. Because of the variable manifestations of the dysplasia and its different degrees of involvement in the affected children, they have subdivided it into localized, classical and generalized. In the generalized form, there is involvement of a whole lower extremity from the pelvis to the foot, and some of these patients show megaepiphyses with enlargement of a whole epiphyseal center, not only its medial or lateral part. The authors have also described and illustrated other special features of the dysplasia especially the advanced bone age and the metaphyseal and growth plate involvement.

  9. Rasmussen's encephalitis presenting as focal cortical dysplasia

    Directory of Open Access Journals (Sweden)

    D.J. O'Rourke

    2014-01-01

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

  10. Rasmussen's encephalitis presenting as focal cortical dysplasia

    Science.gov (United States)

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

    2014-01-01

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

  11. Sponastrime dysplasia. A radiologic-pathologic correlation

    Energy Technology Data Exchange (ETDEWEB)

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

    1989-07-01

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

  12. Sponastrime dysplasia. A radiologic-pathologic correlation

    Energy Technology Data Exchange (ETDEWEB)

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

    1989-07-01

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

  13. Occipital projections in the skeletal dysplasias

    International Nuclear Information System (INIS)

    Takamine, Yuji; Field, Fiona M.; Lachman, Ralph S.; Rimoin, David L.

    2004-01-01

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

  14. 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.

  15. Simplified Classification of Focal Cortical Dysplasia

    Directory of Open Access Journals (Sweden)

    J Gordon Millichap

    2002-09-01

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

  16. 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...

  17. Screening for Developmental Dysplasia of the Hip

    NARCIS (Netherlands)

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

    1998-01-01

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

  18. Total hip reconstruction in acetabular dysplasia.

    NARCIS (Netherlands)

    Schller, H.M.; Dalstra, M.; Huiskes, R.; Marti, R.K.

    1993-01-01

    In acetabular dysplasia, fixation of the acetabular component of a cemented total hip prosthesis may be insecure and superolateral bone grafts are often used to augment the acetabular roof. We used finite element analysis to study the mechanical importance of the lateral acetabular roof and found

  19. The patellofemoral joint: from dysplasia to dislocation

    Science.gov (United States)

    Zaffagnini, Stefano; Grassi, Alberto; Zocco, Gianluca; Rosa, Michele Attilo; Signorelli, Cecilia; Muccioli, Giulio Maria Marcheggiani

    2017-01-01

    Patellofemoral dysplasia is a major predisposing factor for instability of the patellofemoral joint. However, there is no consensus as to whether patellofemoral dysplasia is genetic in origin, caused by imbalanced forces producing maltracking and remodelling of the trochlea during infancy and growth, or due to other unknown and unexplored factors. The biomechanical effects of patellofemoral dysplasia on patellar stability and on surgical procedures have not been fully investigated. Also, different anatomical and demographic risk factors have been suggested, in an attempt to identify the recurrent dislocators. Therefore, a comprehensive evaluation of all the radiographic, MRI and CT parameters can help the clinician to assess patients with primary and recurrent patellar dislocation and guide management. Patellofemoral dysplasia still represents an extremely challenging condition to manage. Its controversial aetiology and its complex biomechanical behaviour continue to pose more questions than answers to the research community, which reflects the lack of universally accepted guidelines for the correct treatment. However, due to the complexity of this condition, an extremely personalised approach should be reserved for each patient, in considering and addressing the anatomical abnormalities responsible for the symptoms. Cite this article: EFORT Open Rev 2017;2. DOI: 10.1302/2058-5241.2.160081. Originally published online at www.efortopenreviews.org PMID:28630757

  20. Cochlear implantation in a bilateral Mondini dysplasia.

    Science.gov (United States)

    Turrini, M; Orzan, E; Gabana, M; Genovese, E; Arslan, E; Fisch, U

    1997-01-01

    We report the speech perception progress and programming procedures of a case of congenital profound deafness and bilateral Mondini dysplasia implanted with a Nucleus 20 + 2 cochlear implant at the age of six. Unclear relations between electrodes array and cochlear partition made implant programming difficult and non-standard procedures were set. Cochlear implantation may give excellent rehabilitative results also in cochleae with malformation.

  1. Human papilloma virus infection and cervical dysplasia.

    Science.gov (United States)

    Melinte-Popescu, Alina; Costăchescu, Gh

    2012-01-01

    Pap testing is considered to be the best screening tool for cervical cancer but there is currently great interest in the possible application of human papilloma virus (HPV) testing to supplement Pap screening for cervical cancer. To determine the prevalence of high-risk HPV types in the studied population and to explore the association between high-risk HPV types and cervical dysplasia. Cross-sectional study conducted at the Iasi Cuza Voda Obstetrics-Gynecology Hospital and Suceava County Hospital. 332 women who underwent colposcopy for cervical lesions between 2006 and 2011 were included in this study. The overall prevalence of HPV was 57.23%. HPV prevalence differs significantly in the three age groups up to 50 years. It was highest in patients below the age of 40 and progressively lower with advancing age. The overall prevalence of cervical dysplasia was 56.62%. The prevalence of cervical dysplasia was highest in the age groups up to 40 years. The most important determinant of HPV infection is age. Persistence of HPV appears to be associated with progression to squamous intraepithelial lesion. Dysplasia is often missed in a cervical sample either because of human error in screening and interpretation, or because of suboptimal quality of Pap smear. Incorporation of HPV testing into the present Pap screening program has the potential of making screening for cervical cancer more effective, and a necessary prelude to assessing this is by determining the prevalence of the high-risk types.

  2. A new lethal sclerosing bone dysplasia

    International Nuclear Information System (INIS)

    Kingston, H.M.; Freeman, J.S.; Hall, C.M.

    1991-01-01

    A neonate is described with a lethal sclerosing bone dysplasia associated with prenatal fractures and craniofacial abnormalities including microcephaly, exophthalmos, hypoplastic nose and mid-face, small jaw and nodular hyperplasia of the gums. Parental consanguinity suggests that an autosomal recessive mutation is the likely aetiology. (orig.)

  3. 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.

  4. 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.

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

    Directory of Open Access Journals (Sweden)

    Balbir Khan

    2014-01-01

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

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

    International Nuclear Information System (INIS)

    Muggenburg, B.A.; Mewhinney, J.A.; Slauson, D.O.; Miglio, J.J.; Ruoff, L.; Mersch, S.; McClellan, R.O.

    1976-01-01

    The efficacy of bronchopulmonary lavage and chelatan therapy for removing 239 Pu from beagle dogs after inhalation of 239 Pu aerosols having different solubilities has been investigated. The four aerosols used were nebulized from a solution of 239 PuCl 4 and heat treated at temperatures of 325, 600, 900 and 1150 0 C. Groups of six beagle dogs were exposed to each of the aerosols. Subsequently, three dogs in each group were treated by lavage and intravenous injections of DTPA. The remaining three dogs in each group served as untreated controls. It was found that bronchopulmonary lavage treatment was effective in removing nearly half of the 239 Pu activity from the lung regardless of the aerosol production temperature. This early removal of 239 Pu activity resulted in a significant reduction in daily dose rate and therefore cumulative α dose to lung. The effectiveness of DTPA treatment depended on aerosol production temperature, and was effective in reducing accumulation of 239 Pu in liver and skeleton of the dogs that inhaled aerosols produced at 325 0 and 600 0 C by enhancing urinary excretion of 239 Pu. (U.K.)

  7. Ectopic ACTH secretion due to a bronchopulmonary carcinoid localized by somatostatin receptor scintigraphy.

    Science.gov (United States)

    Iser, G; Pfohl, M; Dörr, U; Weiss, E M; Seif, F J

    1994-11-01

    We present the case of a 65-year-old woman with an adrenocorticotropic hormone (ACTH) secreting bronchopulmonary carcinoid. This patient showed the typical long history of Cushing's syndrome, including hypokaliemia, impaired glucose tolerance, high levels of ACTH and beta-endorphin, and coproduction of other peptides. At the onset of clinical symptoms in 1979 an adrenal adenoma was suspected, and left-sided adrenalectomy was performed. The symptoms soon recurred, and the diagnosis of ACTH-dependent Cushing's syndrome was made. As no ACTH-secreting tumor was found, the right adrenal was resected, and the patient was followed up regularly. Fourteen years later chest roentgenography and computed tomography revealed a para-aortic pulmonary lesion, which was suspicious for a bronchopulmonary carcinoid. ACTH and beta-endorphin were excessively, pancreatic polypeptide slightly elevated at that time. The final diagnosis was made using somatostatin receptor scintigraphy which confirmed the hormonal activity of the suspicious lesion; no additional focus was found. This method turned out to be not only a useful additional localization technique but also a promising tool for characterization and staging of a suspected ACTH-producing carcinoid. The tumor was resected curatively, and the diagnosis was confirmed histologically.

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

    International Nuclear Information System (INIS)

    Ball, F.

    1990-01-01

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

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

    Directory of Open Access Journals (Sweden)

    I.A. Norkin

    2009-09-01

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

  10. Pulmonary scintigraphy using 197HgCl2 and pulmonary perfusion scintigraphy in bronchopulmonary diseases

    International Nuclear Information System (INIS)

    Fujii, Tadashige; Kanai, Hisakata; Handa, Kenjiro; Kusama, Shozo

    1981-01-01

    75 patients with pulmonary tuberculosis and 106 patients with bronchopulmonary diseases whose chest x-rays showed diffuse shadows were studied. Pulmonary scintigraphy using 197 HgCl 2 was useful for the diagnosis of the localization and the activity of pulmonary tuberculosis, because 197 HgCl 2 readily accumulated in the foci, and its accumulation rate was related to the activity of the foci. 197 HgCl 2 also accumulated markedly in foci of pneumoconiosis, especially, in areas showing large shadows and foci suspected to be tuberculosis. 197 HgCl 2 also accumulated in areas of chronic bronchitis, diffuse interstitial pneumonia and bronchiectasis. Its accumulation was considered to have a relation to the activity of inflammation. In primary pulmonary carcinoma, 197 HgCl 2 accumulated most markedly, in the primary lesions. 197 HgCl 2 also accumulated in metastatic or invasion areas of the hilus and the mediastinum. It accumulated in intrapulmonary metastatic foci of pulmonary carcinoma and multiple metastatic pulmonary tumors, but it was difficult to differentiate these diseases from other pulmonary diseases. In selected cases, it was useful to use pulmonary scintigraphy using 197 HgCl 2 together with pulmonary perfusion scintigraphy for the diagnosis of diffuse bronchopulmonary diseases. (Tsunoda, M.)

  11. Hypohidrotic and hidrotic ectodermal dysplasia: a report of two cases.

    Science.gov (United States)

    Vasconcelos Carvalho, Marianne; Romero Souto de Sousa, José; Paiva Correa de Melo, Filipe; Fonseca Faro, Tatiane; Nunes Santos, Ana Clara; Carvalho, Silvia; Veras Sobral, Ana Paula

    2013-07-14

    Ectodermal dysplasias are a large group of syndromes characterized by anomalies in the structures of ectodermal origin. There are 2 major types of this disorder, based on clinical findings: hypohidrotic ectodermal dysplasia and hidrotic ectodermal dysplasia. This clinical classification is very important because clinical professionals involved with this disease need first a clear and practical method of diagnosis. The main oral manifestation of ectodermal dysplasia may be expressed as hypodontia. Thus, dental professionals may be the first to diagnose ectodermal dysplasia. The present article reports one case of each of the main types (hypohidrotic and hidrotic) of ectodermal dysplasia and the authors review the literature regarding the pathogenesis, clinical features, and therapeutic management of this condition.

  12. Joint space width in dysplasia of the hip

    DEFF Research Database (Denmark)

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

    2005-01-01

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

  13. 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.

  14. Mutations in FLNB cause boomerang dysplasia.

    Science.gov (United States)

    Bicknell, L S; Morgan, T; Bonafé, L; Wessels, M W; Bialer, M G; Willems, P J; Cohn, D H; Krakow, D; Robertson, S P

    2005-07-01

    Boomerang dysplasia (BD) is a perinatal lethal osteochondrodysplasia, characterised by absence or underossification of the limb bones and vertebrae. The BD phenotype is similar to a group of disorders including atelosteogenesis I, atelosteogenesis III, and dominantly inherited Larsen syndrome that we have recently shown to be associated with mutations in FLNB, the gene encoding the actin binding cytoskeletal protein, filamin B. We report the identification of mutations in FLNB in two unrelated individuals with boomerang dysplasia. The resultant substitutions, L171R and S235P, lie within the calponin homology 2 region of the actin binding domain of filamin B and occur at sites that are evolutionarily well conserved. These findings expand the phenotypic spectrum resulting from mutations in FLNB and underline the central role this protein plays during skeletogenesis in humans.

  15. Arrhythmogenic right ventricular dysplasia: A case report

    Directory of Open Access Journals (Sweden)

    Tessa Negrín Valdés

    2015-10-01

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

  16. MRA of fibromuscular dysplasia in cervical vessels

    International Nuclear Information System (INIS)

    Link, J.; Steffens, J.C.; Mueller-Huelsbeck, S.; Brossmann, J.; Heller, M.

    1996-01-01

    In 386 selective angiograms of cervical vessels fibromuscular dysplasia was revealed in 4 female patients in the age of 30-54 years. FMD was located in the carotid artery (n=5) and in the vertebral artery (n=2) with a total of 8 lesions. 6/8 of the lesions of the seven cervical vessels were located typically in the mid cervical portion of the vessels and 2/6 lesions were located in the atlas loop of the vertebral artery. 4 lesions showed moderate stenosis and 4 vessels showed only mild stenosis. These patterns which demonstrated the typical morphology of fibromuscular dysplasia with alternating irregular zones of widening and narrowing were evaluated well with MR angiography, the others were missed. (orig./MG) [de

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

    KAUST Repository

    Shamseldin, Hanan E.; Khalifa, Ola; Binamer, Yousef M.; Almutawa, Abdulmonem; Arold, Stefan T.; Zaidan, Hamad; Alkuraya, Fowzan S.

    2016-01-01

    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

  18. Fetal MR imaging of Kniest dysplasia

    International Nuclear Information System (INIS)

    Yazici, Zeynep; Kline-Fath, Beth M.; Laor, Tal; Tinkle, Bradley T.

    2010-01-01

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

  19. MR imaging features of craniodiaphyseal dysplasia

    Energy Technology Data Exchange (ETDEWEB)

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

    2004-02-01

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

  20. Bilateral anophthalmia with septo-optic dysplasia

    OpenAIRE

    Jana, Manisha; Sharma, Sanjay

    2010-01-01

    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 ano...

  1. Distinctive skeletal dysplasia in Cockayne syndrome

    International Nuclear Information System (INIS)

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

    1986-01-01

    Cockayne syndrom 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 involvment of the spine. (orig.)

  2. 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.

  3. Fetal MR imaging of Kniest dysplasia

    Energy Technology Data Exchange (ETDEWEB)

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

    2010-03-15

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

  4. Spondyloepiphyseal dysplasia congenita. A cause of lethal neonatal dwarfism

    Energy Technology Data Exchange (ETDEWEB)

    Macpherson, R.I.; Wood, B.P.

    1980-07-01

    Spondyloepiphyseal dysplasia congenita is a form of primarily short trunk dwarfism, that is manifest at birth but generally has not been regarded as a cause of lethal neonatal dwarfism. Seven neonates with severe dwarfism are presented. The first survived the newborn period, but the other six were early neonatal deaths. All displayed the clinical and radiologic features of spondyloepiphyseal dysplasia congenita. The striking similarities between spondyloepiphyseal dysplasia congenita and achondrogenesis type 2 are discussed.

  5. Malignant transformation of fibrous dysplasia into chondroblastic osteosarcoma

    International Nuclear Information System (INIS)

    Kaushik, Shaifali; Smoker, Wendy R.K.; Frable, William J.

    2002-01-01

    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.)

  6. The Impact of Atrial Left-to-Right Shunt on Pulmonary Hypertension in Preterm Infants with Moderate or Severe Bronchopulmonary Dysplasia

    Directory of Open Access Journals (Sweden)

    Eui Kyung Choi

    2015-10-01

    Conclusion: The presence of an atrial left-to-right shunt was associated with PH in preterm infants with moderate or severe BPD. Close follow up is needed for infants with interatrial shunts, and a more tailored prognostic evaluation and treatment are recommended.

  7. Bizarre cell dysplasia of the cervix.

    Science.gov (United States)

    Ondič, Ondrej; Ferko, Radoslav; Kašpírková, Jana; Švajdler, Marián; Rýchly, Boris; Talarčík, Peter; Bouda, Jiří; Michal, Michal

    2017-02-01

    The aim of this study was the characterization of a new subtype of high-grade cervical squamous intraepithelial lesion (HSIL) with enlarged cells containing bizarre nuclei: so-called bizarre cell dysplasia (BCD). A total of 29 cervical cone biopsy samples of this type of dysplasia were studied. Multi-target polymerase chain reaction and in situ hybridization human papillomavirus (HPV) detection was performed in all cases. BCD was defined as a subtype of HSIL characterized by the presence of large dysplastic cells with abnormal, large pleomorphic nuclei or multinucleation causing nucleomegaly. This results in bizarre nuclear shapes. Bizarre cells are scattered throughout the whole thickness of the dysplastic squamous epithelium. The BCD lesions arise within the conventional/classic high grade or "bland" type squamous dysplasia HSIL. Statistically they were significantly associated with HVP type 16. A significant association with other studied viruses (Herpes simplex virus [HSV]1, HSV2, Varicella zoster virus, Epstein-Barr virus, cytomegalovirus, human herpesvirus 6, and human polyomaviruses BK and JC) was not confirmed. BCD involves cytologically characteristic morphologic changes that are recognizable, but which may pose some risk of misdiagnosis as low-grade squamous intraepithelial lesion due to the enlargement of dysplastic cells and multinucleation. Based on the unique histological, cytological and biological features of BCD including strong association with HPV 16 infection, we believe that this is a specific, and so far unrecognized variant of HSIL. © 2017 Japan Society of Obstetrics and Gynecology.

  8. Florid osseous dysplasia of the jaws

    International Nuclear Information System (INIS)

    Cho, Su Beom; Koh, Kwang Joon

    1995-01-01

    Few cases of florid osseous dysplasia has been described as a condition that characteristically affects the jaws. It usually manifests as multiple radiopaque masses distributed throughout the jaws. Confusion exists about the relationship of florid osseous dysplasia, gigantiform cementoma, chronic sclerosing osteomyelitis, sclerosing osteitis or multiple enostosis. Authors experienced a case of florid osseous dysplasia of the jaws in 52-year-old female on the basis of clinical, radiographic and histopathologic findings. The characteristic features are as follows: 1. In clinical examination, there was no clinical sign and symptoms except extrated area. And there was no facial asymmetry. 2. Radiograms show round or lobular dense radiopaque masses surrounded by radiolucent bands in lower molar teeth area bilaterally. And slight increased radiopacities in maxillary molar teeth area bilaterllay. There was no expansion or thinning of buccal and lingual cortical bones. There is no displacement or resorption of involved teeth. In right side of mandible, mandibular canal is displaced inferiorly due to mass. 3. Photomicrograms show densely mineralized sclerotic acellular masses with empty lacunae. Pattern is suggestive of cementum, although it could be considered sclerotic bone. In the periphery, lesion consisting of moderately cellular fibrous tissue in calcified products are deposited.

  9. Treatment of oral dysplasia with 5% imiquimod cream: short communication.

    Science.gov (United States)

    Mullins, R; Ansell, M; Laverick, S

    2016-11-01

    We report what we think is the first treatment of oral dysplasia with 5% imiquimod cream. A 60-year-old man presented with varying degrees of dysplasia on the soft palate. A cover plate was fabricated and the patient was prescribed 5% imiquimod cream, a topical imunomodulator, for six weeks. The lesion improved and histological examination of an incisional biopsy found no features of dysplasia. This case highlights the efficacy of imiquimod cream in the treatment of dysplasia, and the need for development of a preparation suitable for the oral mucosa. Copyright © 2016. Published by Elsevier Ltd.

  10. 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...... be treated before the periacetabular osteotomy (PAO), treated simultaneously with the PAO, or left alone and only treated if symptoms persist after the PAO. This review is an update of aspects of labral anatomy and function, the etiology of labral tears in hip dysplasia, and diagnostic assessment of labral...... tears, and we discuss treatment strategies for coexisting labral tears and hip dysplasia....

  11. 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.

  12. Focal cemento-osseous dysplasia: review and a case report.

    Science.gov (United States)

    Salem, Y M Y; Osman, Y I; Norval, E J G

    2010-10-01

    Focal cemento-osseous dysplasia is a benign fibro-osseous condition that can be seen in dentate and edentulous patients. It is an asymptomatic lesion and needs no treatment; however follow-up is essential due to the possibility that focal cemento-osseous dysplasia can progress to a condition called florid osseous dysplasia that involves multiple sites. A case report is presented here, along with a review of the differential diagnoses considered in order to reach a final diagnosis of focal cemento-osseous dysplasia.

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

    International Nuclear Information System (INIS)

    Sharma, Vikas; Mohindroo, J.

    2009-01-01

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

  14. [Mondini dysplasia: traumatic cerebrospinal fluid otorrhea with meningitis].

    Science.gov (United States)

    Kaftan, H; Adamaszek, M; Hosemann, W

    2006-08-01

    Mondini dysplasia is a rare malformation of the inner ear commonly associated with loss of hearing and vestibular function. Children with Mondini dysplasia are predisposed to developing a spontaneous cerebrospinal fluid (CSF) leak and recurrent meningitis. If there is no CSF leak but a unilateral hearing loss, the condition may go undiagnosed for years. We describe a 65-year-old man with unrecognized unilateral Mondini dysplasia who presented with CSF leak and meningoencephalitis after minor head trauma. Two operative interventions were undertaken to close the defect properly. Patients with Mondini dysplasia or their parents should be cautioned about the potential hazards of any head trauma.

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

    Directory of Open Access Journals (Sweden)

    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.

  16. Osseous dysplasia (cemento-osseous dysplasia) of the jaw bones in western Pennsylvania patients: analysis of 35 cases.

    Science.gov (United States)

    Owosho, Adepitan A; Potluri, Anitha; Bilodeau, Elizabeth A

    2013-01-01

    The purpose of this study is to analyze the demographic, clinical, and radiographic presentations of osseous dysplasia of the jaws in western Pennsylvania patients and its associated complications. The clinical records and radiographs of patients diagnosed with osseous (cement-osseous) dysplasia were retrieved from the electronic health record of the University of Pittsburgh, School of Dental Medicine from 2007 to 2012. All cases were reviewed; the WHO criteria and classification for osseous dysplasia was used. Clinical and demographic data, radiographic findings, and final diagnoses were collected and analyzed. 35 cases of osseous dysplasia were retrieved over the six-year period.The majority (33) were females [94.3%], with ages ranging from 26 to 89 years, with a mean age of 53.9 years +/- standard deviation of 15.6 years, 32 [91.4%] were African Americans and 3 [8.6%] were Caucasians. 17 [48.6%] were florid osseous dysplasia, 13 [37.1%] periapical osseous dysplasia and 5 [14.3%] focal osseous dysplasia. Of the 35 patients only 8 [22.9%] patients were symptomatic. All florid osseous dysplasia patients were African American females, with 7 of the patients being symptomatic and the commonest symptom being pain. Also, all periapical osseous dysplasia patients were African Americans (12 females and 1 male), with 1 of the patients presenting with widening of the diastema. Of the focal osseous dysplasia patients, 3 were Caucasians and 2 African American (4 females and 1 male). The cases occurred mostly in African American females with a peak incidence in the fifth and sixth decades of life; most cases occurred in the mandible. The commonest form of osseous dysplasias was the florid osseous dysplasia which is most likely to present with symptoms.

  17. [Bronchopulmonary diseases in workers engaged in deep-mined extraction of copper-nickel ore].

    Science.gov (United States)

    Siurin, S A; Derevoedov, A A; Nikanov, A N

    2008-01-01

    Examinations were made in 220 male workers exposed to dust-gas (low-silicon dioxide, nitric oxides, and carbon oxide) mixture, physical exercises, and cooling microclimate on deep-mined output of copper-nickel ore. Twenty-eight per cent of the workers were found to have evolving chronic bronchitis that did not substantially affect the patients' working capacity; 3.2% had chronic obstructive pulmonary disease and 1.4% had asthma that had developed before the onset of professional activity. 32.3% of the examinees were ascertained to have individual clinicofunctional disorders that permit their identification as a bronchopulmonary disease risk group to carry out early preventive and rehabilitative measures.

  18. Combined Churg-Strauss syndrome and allergic bronchopulmonary aspergillosis - case report and review of the literature.

    Science.gov (United States)

    Ren, Shaohua

    2013-01-01

    A rare case of combined Churg-Strauss syndrome (CSS) and allergic bronchopulmonary aspergillosis (ABPA) was presented. A 41-year-old woman was diagnosed with CSS based upon asthma, eosinophilia (23%), chest radiographic findings, paranasal sinusitis, peripheral neuropathy and positive p- anti-neutrophil cytoplasmic antibodies (pANCA). The diagnosis of ABPA was established on the pathological findings of allegic mucin impaction and fungal hyphae on lung biopsy. It was further proved by positive serum IgE and IgG antibodies specific to afumigatus. The clinical investigation features were reviewed in the patients with combined CSS and ABPA. All patients had the time sequence of the development of CSS after ABPA uniformly, suggesting immunopathogenesis involving the emergence of CSS. The role of lung biopsy in the diagnosis of the condition was emphasized. © 2012 Blackwell Publishing Ltd.

  19. Post-bronchoscopy fatal endobronchial hemorrhage in a woman with bronchopulmonary mucormycosis: a case report

    Directory of Open Access Journals (Sweden)

    La Licata Francesco

    2010-12-01

    Full Text Available Abstract Introduction During infection, Mucorales fungi invade major blood vessels, leading to extensive necrosis, and in cases of extensive pulmonary disease, bleeding into the lungs may occur. Case presentation We report an unexpected event of post-bronchoscopy fatal endobronchial hemorrhage in a 62-year-old HIV-negative Italian woman with well controlled diabetes mellitus who presented with diffuse cavitated pulmonary lesions. Fiberoptic bronchoscopy revealed bilateral obstruction of the segmental bronchi. Fatal massive bleeding occurred after standard biopsy procedures. Histologic examination showed that the hyphae were more deeply colored by hematoxylin-eosin (H&E than by other stains for fungi. Culture and autopsy confirmed bronchopulmonary mucormycosis. Conclusion Infection by Mucorales fungi should be considered in the diabetes population regardless of the degree of metabolic control. In these patients, particular caution should be taken during bronchoscopic procedures because of the greater friability of the fungal lesions.

  20. 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.

  1. 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.

  2. Cleidocranial dysplasia: Report of 4 cases and review

    Directory of Open Access Journals (Sweden)

    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.

  3. Marfan syndrome with multiseptate pneumothorax and mandibular fibrous dysplasia

    Directory of Open Access Journals (Sweden)

    Kate A

    2009-01-01

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

  4. Prevalence of Cervical Dysplasia among Women in Kano Municipal ...

    African Journals Online (AJOL)

    Fifty-seven women had cervical dysplasia giving a prevalence rate of 10.63%. Of the 57 women with cervical dysplasia, 21 (36.8%) had a low grade squamous intraepithelial lesions (LGSIL), while 36(63.2%) had a high grade squamous intraepithelial lesion (HGSIL). The disease was higher in grand multiparous clients ...

  5. Further delineation of spondylometaphyseal dysplasia with cone-rod dystrophy

    NARCIS (Netherlands)

    Sousa, Sérgio B.; Russell-Eggitt, Isabelle; Hall, Christine; Hall, Bryan D.; Hennekam, Raoul C. M.

    2008-01-01

    There are several entities that combine a skeletal dysplasia with a retinal dystrophy. Recently, another possibly autosomal recessive entity was added to this group characterized by a specific spondylometaphyseal dysplasia and a cone-rod dystrophy, without other significant impairments. The entity

  6. The Possible Relationship Between Mammary Dysplasia and Breast ...

    African Journals Online (AJOL)

    Aim: There is need to resolve the continuing difficult question regarding the possible relationship between mammary dysplasia and breast cancer. Method: This is a 30-year study of the incidences of both mammary dysplasia and breast cancer occurring among the Igbos, a major ethnic group in Nigeria, West Africa. Results: ...

  7. Joint space width in dysplasia of the hip

    DEFF Research Database (Denmark)

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

    2005-01-01

    . Neither subjects with dysplasia nor controls had radiological signs of ongoing degenerative disease at admission. The primary radiological discriminator of degeneration of the hip was a change in the minimum joint space width over time. There were no significant differences between these with dysplasia...

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

    Science.gov (United States)

    ... Educational Resources (6 links) Cincinnati Children's Hospital: Coxa Vera Disease InfoSearch: Spondyloepiphyseal dysplasia tarda X-linked Johns ... Free article on PubMed Central Savarirayan R, Thompson E, Gécz J. Spondyloepiphyseal dysplasia tarda (SEDL, MIM #313400). ...

  9. Knee radiography in the diagnosis of skeletal dysplasias

    International Nuclear Information System (INIS)

    Kwee, Thomas C.; Beek, Frederik J.A.; Nievelstein, Rutger A.J.; Beemer, Frits A.

    2006-01-01

    Flattening of the epiphyses of long bones is seen in several skeletal dysplasias and standardized measurements on a radiograph of the knee to detect skeletal dysplasias using this feature have been described. Since then only two other studies in which this method was used have been published, and both included only a small number of children and neither had a control group. In addition, the Dutch National Working Group on Skeletal Dysplasias began to have doubts about the reliability of the method. We therefore decided to re-evaluate its accuracy in a population of children with and without a skeletal dysplasia. To determine the diagnostic value of standardized measurements on conventional AP radiographs of the knee in children with a skeletal dysplasia. Subjects and methods: We measured the distal femoral metaphysis and epiphysis according to the published method on conventional AP radiographs of the knee in 45 healthy children and 52 children with a skeletal dysplasia. We compared graphically the height of the distal femoral epiphysis with its width and with the width of the femoral metaphysis. Receiver operating characteristic (ROC) curves were calculated for each group of children. All graphs showed a considerable overlap between children with a skeletal dysplasia and healthy children. The size of the area under the ROC curves for the different groups was small, varying between 0.567 and 0.653. This method does not discriminate between children with a skeletal dysplasia and healthy children. We therefore consider it to be of little diagnostic value. (orig.)

  10. Management of high-grade dysplasia in Barrett's esophagus.

    Science.gov (United States)

    Palley, S L; Sampliner, R E; Garewal, H S

    1989-08-01

    When Barrett's esophagus is complicated by adenocarcinoma, surgery is indicated in appropriate patients. Until now, high-grade dysplasia in Barrett's esophagus has been managed in a similar fashion. We explore this approach and review reported cases of high-grade dysplasia to suggest guidelines for collection of data to make future clinical decisions more rational.

  11. Cerebral infarction attributable to cerebrovascular fibromuscular dysplasia

    International Nuclear Information System (INIS)

    Shimazaki, Haruo

    2008-01-01

    Fibromuscular dysplasia (FMD) is a noninflammatory, nonatheromatous segmental angiopathy. The renal arteries are affected most commonly, followed by the internal carotid and vertebral arteries. FMD of the internal carotid and vertebral arteries usually occurs in the extracranial portions and is mostly observed at the level of the second cervical vertebra. FMD of the intracranial arteries is rare, but tends to occur in children and young adults. FMD is more common in females than in males, and it is often observed in middle-aged women. Although the etiology of FMD is not well understood, several mechanisms have been proposed, such as genetic predisposition, hormonal factors, and arterial wall ischemia. The pathology of FMD is characterized by smooth muscle hyperplasia or thinning, elastic fiber destruction, fibrous tissue proliferation, and arterial wall disorganization. Cerebrovascular fibromuscular dysplasia (cFMD) is relatively rare in Japan but is regarded as one of the cardinal causes of stroke in the younger population. cFMD without complications causes nonspecific symptoms such as headache or vertigo, but when it results in an arterial dissection or aneurysm, it leads to cerebral infarction or subarachnoid hemorrhage. Conventional angiographic findings mostly reveal a pattern called the 'string of beads', which is pathologically correlated to medial fibromuscular dysplasia. Doppler echography, computed tomography and magnetic resonance angiography (MRA) may be useful for detecting cFMD lesions in some cases. MRA should be performed to rule out the presence of intracranial aneurysms. Antiplatelet and anticoagulation agents are prophylactics against cFMD complications. Surgical treatments such as graduated intraluminal dilatation had previously been the mainstays for treating cFMD. Percutaneous transluminal angioplasty with or without stenting has now become the preferred invasive treatment for symptomatic cFMD. (author)

  12. Phrenic motor outputs in response to bronchopulmonary C‐fibre activation following chronic cervical spinal cord injury

    Science.gov (United States)

    2016-01-01

    Key points Activation of bronchopulmonary C‐fibres, the main chemosensitive afferents in the lung, can induce pulmonary chemoreflexes to modulate respiratory activity.Following chronic cervical spinal cord injury, bronchopulmonary C‐fibre activation‐induced inhibition of phrenic activity was exaggerated.Supersensitivity of phrenic motor outputs to the inhibitory effect of bronchopulmonary C‐fibre activation is due to a shift of phrenic motoneuron types and slow recovery of phrenic motoneuron discharge in cervical spinal cord‐injured animals.These data suggest that activation of bronchopulmonary C‐fibres may retard phrenic output recovery following cervical spinal cord injury.The alteration of phenotype and discharge pattern of phrenic motoneuron enables us to understand the impact of spinal cord injury on spinal respiratory activity. Abstract Cervical spinal injury interrupts bulbospinal pathways and results in cessation of phrenic bursting ipsilateral to the lesion. The ipsilateral phrenic activity can partially recover over weeks to months following injury due to the activation of latent crossed spinal pathways and exhibits a greater capacity to increase activity during respiratory challenges than the contralateral phrenic nerve. However, whether the bilateral phrenic nerves demonstrate differential responses to respiratory inhibitory inputs is unclear. Accordingly, the present study examined bilateral phrenic bursting in response to capsaicin‐induced pulmonary chemoreflexes, a robust respiratory inhibitory stimulus. Bilateral phrenic nerve activity was recorded in anaesthetized and mechanically ventilated adult rats at 8–9 weeks after C2 hemisection (C2Hx) or C2 laminectomy. Intra‐jugular capsaicin (1.5 μg kg−1) injection was performed to activate the bronchopulmonary C‐fibres to evoke pulmonary chemoreflexes. The present results indicate that capsaicin‐induced prolongation of expiratory duration was significantly attenuated in C2Hx

  13. Phrenic motor outputs in response to bronchopulmonary C-fibre activation following chronic cervical spinal cord injury.

    Science.gov (United States)

    Lee, Kun-Ze

    2016-10-15

    Activation of bronchopulmonary C-fibres, the main chemosensitive afferents in the lung, can induce pulmonary chemoreflexes to modulate respiratory activity. Following chronic cervical spinal cord injury, bronchopulmonary C-fibre activation-induced inhibition of phrenic activity was exaggerated. Supersensitivity of phrenic motor outputs to the inhibitory effect of bronchopulmonary C-fibre activation is due to a shift of phrenic motoneuron types and slow recovery of phrenic motoneuron discharge in cervical spinal cord-injured animals. These data suggest that activation of bronchopulmonary C-fibres may retard phrenic output recovery following cervical spinal cord injury. The alteration of phenotype and discharge pattern of phrenic motoneuron enables us to understand the impact of spinal cord injury on spinal respiratory activity. Cervical spinal injury interrupts bulbospinal pathways and results in cessation of phrenic bursting ipsilateral to the lesion. The ipsilateral phrenic activity can partially recover over weeks to months following injury due to the activation of latent crossed spinal pathways and exhibits a greater capacity to increase activity during respiratory challenges than the contralateral phrenic nerve. However, whether the bilateral phrenic nerves demonstrate differential responses to respiratory inhibitory inputs is unclear. Accordingly, the present study examined bilateral phrenic bursting in response to capsaicin-induced pulmonary chemoreflexes, a robust respiratory inhibitory stimulus. Bilateral phrenic nerve activity was recorded in anaesthetized and mechanically ventilated adult rats at 8-9 weeks after C2 hemisection (C2Hx) or C2 laminectomy. Intra-jugular capsaicin (1.5 μg kg -1 ) injection was performed to activate the bronchopulmonary C-fibres to evoke pulmonary chemoreflexes. The present results indicate that capsaicin-induced prolongation of expiratory duration was significantly attenuated in C2Hx animals. However, ipsilateral phrenic

  14. 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.)

  15. An Uncommon Reason of Osteoporosis: Spondyloepiphyseal Dysplasia Congenita

    Directory of Open Access Journals (Sweden)

    Onur Elbasan

    2017-12-01

    Full Text Available Skeletal dysplasia is a complex and rare disease group that presents with clinical and radiological findings that differ from classical metabolic bone diseases in which bone and cartilage tissue are affected together. Spondyloepiphyseal dysplasia conjenita with involvement of the spine and long bone epiphyses is seen with short stature and short body from birth. Although bone deformities such as shortness of neck and vertebrae, kyphosis, scoliosis, pectus carinatum, genu varum or valgum are frequent, association with osteopenia/osteoporosis has been rarely reported. Although spondyloepiphyseal dysplasia tarda and osteopenia are coexisting in the literature, there is no evidence of the association of spondyloepiphyseal dysplasia tarda and conjunctiva with osteoporosis. In our case report, we presented a patient who was applied to our center with short stature, diagnosed with osteoporosis and spondyloepiphyseal dysplasia congenita by detecting femur head aplasia in radiological imaging.

  16. 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.)

  17. Autosomal dominant craniometaphyseal dysplasia with atypical features.

    Science.gov (United States)

    McKay, D R; Fialkov, J A

    2002-03-01

    Craniometaphyseal dysplasia (CMD) is a rare genetic disorder of bone modelling characterised by hyperostosis and sclerosis of the craniofacial bones, and abnormal modelling of the metaphyses. Clinically, autosomal dominant (AD) CMD is characterised by facial distortion and cranial-nerve compression. The goals of surgical treatment for AD CMD are cosmetic recontouring of the sclerotic craniofacial bones, correction of nasal obstruction and correction or prevention of neurological manifestations. We describe the successful correction of AD CMD craniofacial manifestations in an individual with atypical findings, and outline an approach for correcting the craniofacial deformities associated with this rare disorder. Copyright 2002 The British Association of Plastic Surgeons.

  18. Fibromuscular Dysplasia Presenting with Bilateral Renal Infarction

    International Nuclear Information System (INIS)

    Doody, O.; Adam, W. R.; Foley, P. T.; Lyon, S. M.

    2009-01-01

    Fibromuscular dysplasia (FMD) describes a group of conditions which cause nonatheromatous arterial stenoses, most commonly of the renal and carotid arteries, typically in young women. We report a rare case of bilateral segmental renal infarction secondary to FMD in a young male patient. His initial presentation with loin pain and pyrexia resulted in a delay in the definitive diagnosis of FMD. He was successfully treated with bilateral balloon angioplasty. The delayed diagnosis in this patient until the condition had progressed to bilateral renal infarcts highlights the need for prompt investigation and diagnosis of suspected cases of FMD.

  19. Fibrous dysplasia with cartilaginous differentiation (''fibrocartilaginous dysplasia''): a review, with an illustrative case followed for 18 years

    International Nuclear Information System (INIS)

    Kyriakos, Michael; McDonald, Douglas J.; Sundaram, Murali

    2004-01-01

    A 21-year-old man with an 18-year history of progressive, and deforming, monomelic fibrous dysplasia with massive cartilaginous differentiation (fibrocartilaginous dysplasia) is described. A review is made of all prior reported examples of this entity in the English language medical literature. The radiologic and histologic differential diagnoses are described, distinguishing the lesion from chondrosarcoma and from fibrocartilaginous mesenchymoma. (orig.)

  20. DNA Fingerprinting Abnormalities Can Distinguish Ulcerative Colitis Patients with Dysplasia and Cancer from Those Who Are Dysplasia/Cancer-Free

    Science.gov (United States)

    Chen, Ru; Rabinovitch, Peter S.; Crispin, David A.; Emond, Mary J.; Koprowicz, Kent M.; Bronner, Mary P.; Brentnall, Teresa A.

    2003-01-01

    Patients with extensive ulcerative colitis (UC) of longer than 8 years duration are at high risk for the development of colorectal cancer. The cancers in these patients appear to develop in a stepwise manner with progressive histological changes from negative for dysplasia → indefinite for dysplasiadysplasia → cancer. The aim of this study was to determine the timing and extent of genomic instability in the progression of UC dysplasia and cancer. Using two polymerase chain reaction (PCR)-based DNA fingerprinting methods, arbitrarily primed PCR and intersimple sequence repeat PCR, we assessed DNA sequence variation in biopsies across the spectrum of cancerous, dysplastic, and nondysplastic mucosa. UC patients with dysplasia/cancer had substantial genomic instability in both their dysplastic and nondysplastic colonic mucosa, whereas instability was not present in the majority of UC patients without dysplasia/cancer. The degree of instability in nondysplastic tissue was similar to that of dysplastic/cancerous mucosa from the same patient, suggesting that this instability was widespread and reached the maximum level early in neoplastic progression. These results suggest that UC patients who develop dysplasia or cancer have an underlying process of genomic instability in their colonic mucosa whereas UC patients who are dysplasia-free do not. PMID:12547724

  1. Upper-extremity phocomelia reexamined: a longitudinal dysplasia.

    Science.gov (United States)

    Goldfarb, Charles A; Manske, Paul R; Busa, Riccardo; Mills, Janith; Carter, Peter; Ezaki, Marybeth

    2005-12-01

    In contrast to longitudinal deficiencies, phocomelia is considered a transverse, intercalated segmental dysplasia. Most patients demonstrate severe, but not otherwise classifiable, upper-extremity deformities, which usually cannot be placed into one of three previously described phocomelia groups. Additionally, these phocomelic extremities do not demonstrate true segmental deficits; the limb is also abnormal proximal and distal to the segmental defect. The purpose of this investigation was to present evidence that upper-extremity abnormalities in patients previously diagnosed as having phocomelia in fact represent a proximal continuum of radial or ulnar longitudinal dysplasia. The charts and radiographs of forty-one patients (sixty extremities) diagnosed as having upper-extremity phocomelia were reviewed retrospectively. On the basis of the findings on the radiographs, the disorders were categorized into three groups: (1) proximal radial longitudinal dysplasia, which was characterized by an absent proximal part of the humerus, a nearly normal distal part of the humerus, a completely absent radius, and a radial-sided hand dysplasia; (2) proximal ulnar longitudinal dysplasia, characterized by a short one-bone upper extremity that bifurcated distally and by severe hand abnormalities compatible with ulnar dysplasia; and (3) severe combined dysplasia, with type A characterized by an absence of the forearm segment (i.e., the radius and ulna) and type B characterized by absence of the arm and forearm (i.e., the hand attached to the thorax). Twenty-nine limbs in sixteen patients could be classified as having proximal radial longitudinal dysplasia. Systemic medical conditions such as thrombocytopenia-absent radius syndrome were common in those patients, but additional musculoskeletal conditions were rare. Twenty limbs in seventeen patients could be classified as having proximal ulnar longitudinal dysplasia. Associated musculoskeletal abnormalities, such as proximal femoral

  2. Arrhythmogenic right ventricular dysplasia: MRI findings

    International Nuclear Information System (INIS)

    Wall, E.E. van der; Bootsma, M.M.; Schalij, M.J.; Kayser, H.W.M.; Roos, A. de

    2000-01-01

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

  3. Mondini dysplasia and congenital cytomegalovirus infection.

    Science.gov (United States)

    Bauman, N M; Kirby-Keyser, L J; Dolan, K D; Wexler, D; Gantz, B J; McCabe, B F; Bale, J F

    1994-01-01

    We report a case of bilateral temporal bone anomalies in a child with symptomatic congenital cytomegalovirus infection and severe, bilateral sensorineural hearing loss identified at 3 months of age. High-resolution temporal bone computed tomography (HRCT) revealed bilateral findings of a short, malformed cochlea lacking an interscalar septum, a short and wide internal auditory canal, and an enlarged vestibular aqueduct, features diagnostic of bilateral Mondini dysplasia. To determine the importance of this observation, we completed HRCT in five additional children between 7 months and 9 years of age who had evidence of symptomatic congenital cytomegalovirus infection. One child with profound sensorineural hearing loss had severe bilateral temporal bone dysplasia with a small cochlea lacking an interscalar septum, an abnormal vestibule, and a large cochlear aqueduct. Of the remaining four children, hearing thresholds ranged from normal to profoundly decreased, but their HRCT scans were normal to visual inspection. When inner ear dimensions of these temporal bones were compared with norms established by Pappas and coworkers, however, seven of the eight ears had short cochleas and narrow lateral semicircular canals, and three ears had short or narrow vestibules. These results indicate that congenital cytomegalovirus infection may cause anomalies or growth disturbances of the temporal bone.

  4. 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.

  5. Trochleoplasty in major trochlear dysplasia: current concepts

    Directory of Open Access Journals (Sweden)

    Beaufils Philippe

    2012-02-01

    Full Text Available Abstract Trochleoplasty is the theoretical solution to persistent symptoms (pain and/or instability related to trochlear dysplasia where there is not only a trochlear flatness but also a trochlear prominence. The threshold of prominence indicating surgical intervention has as yet not been determined. A bump of 5 mm is generally accepted as the inferior limit. Given the interventional nature of this demanding procedure, it should be proposed in selected cases after considerable discussion with the patient. Trochleoplasty is indicated as a primary procedure for major trochlear dysplasia with a prominence > 5 mm. Stabilization is obtained in most of the cases with the risk of residual mild anterior knee pain. It is also indicated as a salvage procedure when a previous surgery failed. Despite the reputation of the procedure, the published results are encouraging in terms of prevention of re-dislocation, satisfaction index, and radiological outcomes. Post-operative stiffness is the main complication, which may require manipulation under anaesthesia or arthroscopic arthrolysis. There are few other complications reported and to date secondary necrosis of the trochlea has not been reported. Technically speaking, the deepening trochleoplasty is a difficult procedure without reliable landmarks. We propose a recession wedge trochleoplasty which is an easier procedure. It is never undertaken as an isolated procedure, but always in conjunction with other realignment procedures of the extensor apparatus according to the "a la carte" surgery concept.

  6. Septo-optic dysplasia with pachygyria

    Directory of Open Access Journals (Sweden)

    Abhay A Lune

    2014-01-01

    Full Text Available Optic nerve hypoplasia can be associated with other central nervous system malformations. When associated with the absence of the septum pellucidum or thinning of corpus callosum and pituitary hypoplasia, it is termed septo-optic dysplasia. Pachygyria is a rare congenital disorder characterized by a defect in migration of cerebral neurons resulting in failure of cortical gyri to develop.We report a case of a young learning-disabled male presenting with decreased vision, nystagmus, esotropia,, and seizures since childhood. Fundoscopy revealed bilateral optic nerve hypoplasia. Growth hormone levels were reduced. Magnetic resonance imaging revealed thinned optic nerves, optic chiasma and pituitary infundibulum, absent septum pellucidum, box-shaped ventricles and right frontal cortical thickening with few and broad gyri.This case report highlights a rare case of septo-optic dysplasia with pachygyria. It also emphasizes that every patient with optic nerve hypoplasia should have an endocrinal and neurological evaluation and neuro-radiographic imaging for associated abnormalities.

  7. Natural infection by gastrointestinal and bronchopulmonary nematodes in mouflons (Ovis musimon) and their response to netobimin treatment.

    Science.gov (United States)

    Meana, A; Luzón-Peña, M; Santiago-Moreno, J; De Bulnes, A; Gómez-Bautista, M

    1996-01-01

    Gastrointestinal and bronchopulmonary nematode infections and the efficacy of netobimin (Hapasil) were analyzed by way of fecal examination in 10 female mouflons (Ovis musimon), in central Spain, February 1993. Before treatment all 10 mouflons had Trichostrongylus axei, Teladorsagia circumcincta and Marshallagia spp.; sic had Nematodirus spp., two had Trichuris sp., one had Capillaria sp., seven had bronchopulmonary Dictyocaulus filaria and 10 mouflons had protostrongylid lungworms (Muellerius capillaris, Protostrongylus rufescens, Cystocaulus ocreatus or Neostrongylus linearis). Netobimin (7.5 mg/kg) was 100% effective against T. axei, T. circumcincta, Marshallagia spp., and D. filaria infections whereas one animal continued eliminating Nematodirus spp. eggs. The drug also was effective against Capillaria spp. but not against Trichuris spp. or protostrongylid infections.

  8. Relationship between flexible flat foot and developmental hip dysplasia.

    Science.gov (United States)

    Ponce de León Samper, M C; Herrera Ortiz, G; Castellanos Mendoza, C

    2015-01-01

    To evaluate the possible relationship between flexible flat foot and developmental hip dysplasia in children between six and 15 years of age. Cross-sectional study including 65 patients that had undergone surgery due to residual hip dysplasia or hip dislocation and compared against 75 healthy patients. Flexible flat foot prevalence was measured in each group, with the results showing that 61% of the group with residual hip dysplasia or hip dislocation had this condition, vs. 12% in the healthy group. The statistical analysis shows that the chances of suffering from flexible flat foot, are five times greater in the hip dysplasia or hip dislocation group, than in the healthy group. There is no evidence in the literature showing a relationship between these two conditions, even though they have a common etiology. This study shows a potential measurable relation between this two conditions. Patients with hip dysplasia or dislocation may have a higher chance of presenting flexible flat foot during late childhood, adolescence and adulthood, a fact that suggests a relationship between these two pathologies. Also, patients who seek assistance for the first time because of a flexible flat foot condition without having been evaluated during the first year of life for hip dysplasia, would be better off if evaluated for residual hip dysplasia. Copyright © 2014 SECOT. Published by Elsevier Espana. All rights reserved.

  9. Expanding the phenome and variome of skeletal dysplasia.

    Science.gov (United States)

    Maddirevula, Sateesh; Alsahli, Saud; Alhabeeb, Lamees; Patel, Nisha; Alzahrani, Fatema; Shamseldin, Hanan E; Anazi, Shams; Ewida, Nour; Alsaif, Hessa S; Mohamed, Jawahir Y; Alazami, Anas M; Ibrahim, Niema; Abdulwahab, Firdous; Hashem, Mais; Abouelhoda, Mohamed; Monies, Dorota; Al Tassan, Nada; Alshammari, Muneera; Alsagheir, Afaf; Seidahmed, Mohammed Zain; Sogati, Samira; Aglan, Mona S; Hamad, Muddathir H; Salih, Mustafa A; Hamed, Ahlam A; Alhashmi, Nadia; Nabil, Amira; Alfadli, Fatima; Abdel-Salam, Ghada M H; Alkuraya, Hisham; Peitee, Winnie Ong; Keng, W T; Qasem, Abdullah; Mushiba, Aziza M; Zaki, Maha S; Fassad, Mahmoud R; Alfadhel, Majid; Alexander, Saji; Sabr, Yasser; Temtamy, Samia; Ekbote, Alka V; Ismail, Samira; Hosny, Gamal Ahmed; Otaify, Ghada A; Amr, Khalda; Al Tala, Saeed; Khan, Arif O; Rizk, Tamer; Alaqeel, Aida; Alsiddiky, Abdulmonem; Singh, Ankur; Kapoor, Seema; Alhashem, Amal; Faqeih, Eissa; Shaheen, Ranad; Alkuraya, Fowzan S

    2018-04-05

    PurposeTo describe our experience with a large cohort (411 patients from 288 families) of various forms of skeletal dysplasia who were molecularly characterized.MethodsDetailed phenotyping and next-generation sequencing (panel and exome).ResultsOur analysis revealed 224 pathogenic/likely pathogenic variants (54 (24%) of which are novel) in 123 genes with established or tentative links to skeletal dysplasia. In addition, we propose 5 genes as candidate disease genes with suggestive biological links (WNT3A, SUCO, RIN1, DIP2C, and PAN2). Phenotypically, we note that our cohort spans 36 established phenotypic categories by the International Skeletal Dysplasia Nosology, as well as 18 novel skeletal dysplasia phenotypes that could not be classified under these categories, e.g., the novel C3orf17-related skeletal dysplasia. We also describe novel phenotypic aspects of well-known disease genes, e.g., PGAP3-related Toriello-Carey syndrome-like phenotype. We note a strong founder effect for many genes in our cohort, which allowed us to calculate a minimum disease burden for the autosomal recessive forms of skeletal dysplasia in our population (7.16E-04), which is much higher than the global average.ConclusionBy expanding the phenotypic, allelic, and locus heterogeneity of skeletal dysplasia in humans, we hope our study will improve the diagnostic rate of patients with these conditions.GENETICS in MEDICINE advance online publication, 5 April 2018; doi:10.1038/gim.2018.50.

  10. Prosthodontic management of a patient with ectodermal dysplasia.

    Science.gov (United States)

    Nandini, Yamini

    2013-12-01

    Ectodermal dysplasia is a rare congenital disease that affects the ectodermal structures. It is characterized by hypotrichosis, hypohidrosis and hypodontia. A 14-year-old boy with ectodermal dysplasia presenting with oligodontia and marked resorption of the maxillary and mandibular alveolar ridges is reported. Prosthetic rehabilitation in the form of a maxillary and mandibular partial denture was made with metal crowns on existing lower teeth to achieve appropriate vertical dimension. Significant improvement in speech, masticatory function and facial esthetics was achieved. Removable prosthodontics can provide an acceptable solution to esthetic, functional and psychological rehabilitation in patients with ectodermal dysplasia.

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

    Directory of Open Access Journals (Sweden)

    Reema Sharma Dhar

    2014-01-01

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

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

    Science.gov (United States)

    Dhar, Reema Sharma; Bora, Amitava

    2014-01-01

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

  13. Polypoidal Intestinal Metaplasia and Dysplasia of the External Urethral Meatus

    Directory of Open Access Journals (Sweden)

    Mary Mathew

    2012-01-01

    Full Text Available Urethral mucosa with intestinal metaplasia and dysplasia is a rare occurrence. To date only a single case has been reported in a male with long-standing urethral stricture. We present a 33-year-old female with polypoid intestinal metaplasia and dysplasia of the external urethral meatus in the absence of an inciting factor. Intestinal metaplasia of the urethral mucosa may undergo dysplasia, emphasizing the necessity of a high degree of clinical suspicion and vigilant pathological examination of these lesions.

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

    Science.gov (United States)

    Bhandari, Rajat; Sandhu, Simarpreet V; Bansal, Himanta; Behl, Rashi; Bhullar, Ramanpreet Kaur

    2012-04-01

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

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

    Directory of Open Access Journals (Sweden)

    Rajat Bhandari

    2012-01-01

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

  16. [Florid cemento-osseous dysplasia of the jaws].

    Science.gov (United States)

    Benazzou, S; Boulaadas, M; El Ayoubi, A; Nazih, N; Essakalli, L; Kzadri, M

    2011-06-01

    Florid cemento-osseous dysplasia is a benign and rare tumor of the jaws. It is more commonly seen in middle-aged black women. Most cases are asymptomatic and are found during routine radiographic examination. We report two complicated cases of florid cemento-osseous dysplasia, one with facial deformity and the other with chronic osteitis. The diagnosis of florid cemento-osseous dysplasia is based on clinical and radiological features. The lesions are commonly bilateral and symmetrical. Copyright © 2011. Published by Elsevier Masson SAS.

  17. Fibrous Dysplasia versus Juvenile Ossifying Fibroma: A Dilemma

    Directory of Open Access Journals (Sweden)

    Sreelakshmi N. Nair

    2016-01-01

    Full Text Available 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.

  18. [Protein-energy malnutrition in patients with connective tissue dysplasia].

    Science.gov (United States)

    Lialiukova, E A

    2013-01-01

    In the conditions of the specialized Center of a dysplasia of a connecting tissue the assessment of an protein--energy malnutrition at 121 patients with signs of a dysplasia of a connecting tissue is carried out. High frequency of an oligotrophy at patients with a dysplasia of a connecting tissue is registered. The I degree of a gipotorofiya is taped at 26.21% of the patients, II degree--at 18.44%, the III degree--at 3.88% of patients.

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

    International Nuclear Information System (INIS)

    Kozlowski, K.; Bacha, L.; Massen, R.; Ayati, M.; Sator, S.; Brahimi, L.

    1988-01-01

    A new, dominantly inherited, severe form of spondylometaphyseal dysplasia in five members of an Algerian family is reported. Another child, not investigated, was also probably affected. The disease is characterised by a unique clinical and radiological set of features: dwarfism, genu valgum deformity, progressive kypho-scoliosis, wrist deformity, myopia and severe metaphyseal dysplasia, with moderate spinal changes and minimal changes in the hands and feet. In view of the geographical localisation of the disorder and the anatomical distribution we propose the name Algerian type of spondylo-metaphyseal dysplasia. (orig.)

  20. 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

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

    Energy Technology Data Exchange (ETDEWEB)

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

    2002-07-01

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

  2. MRI findings of dysplasia epiphysealis hemimelica

    Energy Technology Data Exchange (ETDEWEB)

    Iwasawa, T. [Dept. of Radiology, School of Medicine, Yokohama City Univ., Kanagawa (Japan); Aida, N. [Dept. of Radiology, School of Medicine, Yokohama City Univ., Kanagawa (Japan)]|[Kanagawa Children`s Medical Center, Yokohama (Japan); Kobayashi, N. [Dept. of Radiology, School of Medicine, Yokohama City Univ., Kanagawa (Japan)]|[Kanagawa Children`s Medical Center, Yokohama (Japan); Nishimura, G. [Dept. of Radiology, School of Medicine, Yokohama City Univ., Kanagawa (Japan)]|[Dept. of Radiology, School of Medicine, Dokkyou Univ., Tochigi (Japan)

    1996-01-01

    We report a boy with dysplasia epiphysealis hemimelica of the knee, particularly emphasizing MRI findings. When he was 14 months of age, plain radiography exhibiting juxta-articular soft tissue mass with small, punctate, calcified foci did not warrant the definitive diagnosis, while MRI clearly demonstrated osteocartilaginous overgrowth of the femoral epiphysis. The epiphyseal mass mostly showed the same signal intensity as normal cartilage but contained low signal spots corresponding to calcified foci. The cartilaginous cap was depicted as a mottled area of high intensity on a T2-weighted image. When the patient was 4 years of age, this ossified mass was resected surgically and pathologically identified as osteochondroma incorporated into the epiphysis. (orig.)

  3. Florid Cementoosseous Dysplasia: A Rare Case Report

    Directory of Open Access Journals (Sweden)

    Mehmet Fatih Şentürk

    2013-01-01

    Full Text Available Florid cementoosseous dysplasia (FCOD is a rare, benign, fibroosseous, and multifocal dysplastic lesion of the jaw that consists of cellular fibrous connective tissue with bone and cementum-like tissue. FCOD is most commonly found in middle-aged black women, is generally asymptomatic, and is usually detected during radiological examination. FCOD associated with multiple impacted teeth and bone expansion is a very rare phenomenon, and there are only a few familial cases reported in the literature. In this report, a 35-year-old male Turkish patient is presented who was diagnosed with nonfamilial FCOD from clinical, radiological, and histopathological findings. To our knowledge this is the first case of the nonfamilial FCOD with this many impacted teeth and severely expanded bones.

  4. Ectodermal dysplasia-skin fragility syndrome

    Directory of Open Access Journals (Sweden)

    Vijay S Adhe

    2011-01-01

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

  5. Four cases of right ventricular dysplasia

    International Nuclear Information System (INIS)

    Takamura, Ichiro; Ando, Joji; Miyamoto, Atsushi; Kobayashi, Takeshi; Sakamoto, Sanya; Yasuda, Hisakazu

    1985-01-01

    Finding of 81 Kr right ventriculography and 201 Tl myocardial perfusion imaging in 4 patients with right ventricular dysplasia (RVD) were compared with those in 28 patients with dilated cardiomyopathy. Remarkably dilated right ventricle was detected on 201 Tl myocardial perfusion imaging in the RVD group. In a patient with RVD who died suddenly, perfusion defect of the left ventricular myocardium, a decreased right ventricular ejection fraction, and an increased right ventricular end diastolic volume were seen. Perfusion defect of the left ventricular myocardium was seen in 10 of the 28 patients with dilated cardiomyopathy, 4 of whom died suddenly. In these 4 patients, a decreased left ventricular ejection fraction and an increased right ventricular end diastolic volume were seen. These findings obtained by the radionuclide techniques suggested that there are differences in cardiac dysfunction of the both ventricles between the groups with RVD and dilated cardiomyopathy. (Namekawa, K.)

  6. Focal cemento-osseous dysplasia of mandible.

    Science.gov (United States)

    Cankaya, Abdülkadir Burak; Erdem, Mehmet Ali; Olgac, Vakur; Firat, Deniz Refia

    2012-09-03

    Fibro-osseous lesions are disturbances in bone metabolism in which normal bone is replaced by a connective tissue matrix that then gradually develops into cemento-osseous tissue. Typically, the lesion is asymptomatic and is detected on routine radiographic examination. Radiologically, this lesion has three stages of maturation: pure radiolucent, radiopaque/mixed radiolucent, and radiopaque appearance. During these stages the lesion can be misdiagnosed. In this case report a 69-year- old patient with a a complaint of painless swelling of the left mandibular molar and premolar area is presented along with a review of the differential diagnoses considered in order to reach a final diagnosis of focal cemento-osseous dysplasia.

  7. Nonfamilial cleidocranial dysplasia (dysostosis): a case report

    International Nuclear Information System (INIS)

    Salem, G

    1990-01-01

    Cleidocranial dysplasia, previously known as cleidocranial dysostosis, is a rare hereditary disease of unknown etiology characterized by abnormalities in the skull, jaws, shoulder girdle, as well as abnormalities of the dentition. The disease usually follows an autosomal dominant mode of transmission. This is a report on a case in a 25-year-old Saudi female from Gizan, Saudi Arabia, which seemes to be the first case reported in the Kingdom. An outstanding feature of this case is that it did not follow a familial pattern of inheritance since the patient is the only member of the family suffering from such disorder. The abnor malities present in the dentition are described together with the associated skeletal malformations. The clin ical and radiographic findings, as well as the hereditary pattern of the disease as described in the literature, are discussed. The dental management of these cases is reviewed. (author)

  8. Guidelines for genetic skeletal dysplasias for pediatricians

    Directory of Open Access Journals (Sweden)

    Sung Yoon Cho

    2015-12-01

    Full Text Available Skeletal dysplasia (SD is a kind of heterogeneous genetic disorder characterized by abnormal growth, development, differentiation, and maintenance of the bone and cartilage. The patients with SD most likely to be seen by a pediatrician or orthopedic surgeon are those who present with short stature in childhood. Because each category has so many diseases, classification is important to understand SD better. In order to diagnose a SD accurately, clinical and radiographic findings should be evaluated in detail. In addition, genetic diagnosis of SD is important because there are so various SDs with complex phenotypes. To reach an exact diagnosis of SDs, cooperative approach by a clinician, a radiologist and a geneticist is important. This review aims to provide an outline of the diagnostic approach for children with disproportional short stature.

  9. Hypohidrotic ectodermal dysplasia: a multidisciplinary approach.

    Science.gov (United States)

    Bildik, Tezan; Ozbaran, Burcu; Kose, Sezen; Koturoglu, Guldane; Gokce, Bulent; Gunaydin, Asli; Altintas, Inci

    2012-01-01

    Hypohidrotic ectodermal dysplasia (HED; Christ-Siemens-Touraine syndrome) is a genetic disorder characterized by sparse hair, oligodontia with peg-shaped teeth, reduced sweating, and defects in a number of other ectodermal organs. A partial or complete absence of eccrine glands can lead to recurrent severe overheating that may cause seizures and neurological deficits. This clinical report presents a 14-year-old male patient with hypohidrotic ectodermal dysplasia, including the clinical and radiographic findings, and multidisciplinary treatment. The Schedule for Affective Disorders and Schizophrenia for School Aged Children-Present and Lifetime Version (K-SADS-PL) was administered to patient along with mother to assess for any psychiatric disorders. The screening and rating scales completed by mother and two teachers to evaluate the severity of attention deficit hyperactivity disorder (ADHD) symptoms, and other behavioral problems. Patient's academic performance, adaptive functioning, and problem behavior was evaluated using. The Teacher Report Form. Mental capacity was assessed with the Wechsler Intelligence Scale for Children (WISC-R). Illness Perception Questionnaire Revised was used to systematically assess illness representation attributes and emotional representations of illness. On the psychiatric diagnosis assessment using K-SADS-PL sub-threshold attention deficits and anxiety symptoms were determined. In this case we established a multidisciplinary approach in his treatment with pediatric, dermatological, and dental examinations, beside his psychiatric evaluation. The prosthetic rehabilitation included restoring upper teeth with copings and fabrication of upper and lower complete dentures. Metal framework was not incorporated in the partial denture design allowing modifications as the oral and maxillofacial development continued. Removable complete or partial dentures without metal framework is a treatment of choice until the completion of facial growth at

  10. Anomalies of tooth formation in hypohidrotic ectodermal dysplasia

    DEFF Research Database (Denmark)

    Lexner, Michala O; Bardow, Allan; Hertz, Jens Michael

    2007-01-01

    OBJECTIVE: The X-linked hypohidrotic ectodermal dysplasia (HED) is the most common type of ectodermal dysplasia. The clinical identification of possible heterozygous females can be difficult because of the varying degrees of clinical signs caused by X-chromosome inactivation. This study is the fi......OBJECTIVE: The X-linked hypohidrotic ectodermal dysplasia (HED) is the most common type of ectodermal dysplasia. The clinical identification of possible heterozygous females can be difficult because of the varying degrees of clinical signs caused by X-chromosome inactivation. This study...... affected males had multiple missing permanent teeth and tooth malformations. The heterozygous females had a significantly higher frequency of agenesis of permanent teeth compared to normative data. The heterozygous females had an increased prevalence of tooth malformations and reduced tooth size...

  11. Müllerian agenesis with hypohidrotic ectodermal dysplasia syndrome.

    Science.gov (United States)

    Whaley, Katie; Winter, Jordan; Eyster, Kathleen M; Hansen, Keith A

    2012-04-01

    To describe the association of müllerian agenesis with hypohidrotic ectodermal dysplasia. Case report. University medical center. A 17-year-old woman with hypohidrotic ectodermal dysplasia referred for evaluation of primary amenorrhea. History, physical examination, and ultrasound. Physical findings of these two syndromes. Physical examination and ultrasound demonstrated müllerian agenesis with findings of hypohidrotic ectodermal dysplasia. This is the first description of the association of müllerian agenesis with ectodermal dysplasia. This rare case might provide further insight into the development of the uterus and the ectoderm as well as its derivatives. Copyright © 2012 American Society for Reproductive Medicine. Published by Elsevier Inc. All rights reserved.

  12. Anhidrotic Ectodermal Dysplasia with Palmo-plantar Keratoderma

    Directory of Open Access Journals (Sweden)

    Kamlesh Kumar

    1982-01-01

    Full Text Available A patient with anhidrotic ectodermal dysplasia and palmo-plantar keratoderma is presented. Palmo-planta keratoderma is an unusual association with this disease. Atopic dermatitis was another associated condition in this patient.

  13. Ehlers-Danlos syndrome with monostotic fibrous dysplasia

    Directory of Open Access Journals (Sweden)

    Rao A

    1979-01-01

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

  14. Cemento-osseous dysplasia in Jamaica: review of six cases.

    Science.gov (United States)

    Ogunsalu, C; Miles, D

    2005-09-01

    Six cases of cemento-osseous dysplasia (COD) of the jaw bone in Jamaicans are reviewed. Five were documented over a 15-year period (1980-1995). These include a case of florid cemento-osseous dysplasia (previously called gigantiform cementoma). Three of the initial cases were histologically diagnosed as gigantiform cementoma. There was no indication in the patient's case file whether these were familial or non-familial. The other two cases were diagnosed histologically as periapical cemento-osseous dysplasia and cementoblastoma respectively. Based on the current understanding of the nature of florid-cemento-osseous dysplasia (FLCOD), a new case was diagnosed as such solely on radiological findings. This single case of FLCOD is reported and discussed against the background of other cemento-osseous lesions. Special emphasis is placed on the radiology of COD in this paper. The confirmative role of radiology without the need for histophathology and treatment for asymptomatic FLCOD is emphasized.

  15. Omphalocele and alveolar capillary dysplasia: a new association.

    NARCIS (Netherlands)

    Gerrits, L.C.; Mol, A.C. de; Bulten, J.; Staak, F.H.J.M. van der; Heijst, A.F.J. van

    2010-01-01

    OBJECTIVE: First report of an infant with coexistent omphalocele and alveolar capillary dysplasia. DESIGN: Descriptive case report. SETTING: Neonatal intensive care unit of a tertiary care children's hospital. PATIENT: We describe a term infant with omphalocele and respiratory insufficiency

  16. Electrocorticographic discharge patterns in glioneuronal tumors and focal cortical dysplasia

    NARCIS (Netherlands)

    Ferrier, Cyrille H.; Aronica, Eleanora; Leijten, Frans S. S.; Spliet, Wim G. M.; van Huffelen, Alexander C.; van Rijen, Peter C.; Binnie, Colin D.

    2006-01-01

    PURPOSE: To determine whether highly epileptiform electrocorticographical discharge patterns occur in patients with glioneuronal tumors (GNTs) and focal cortical dysplasia (FCD) and whether specific histopathological features are related to such patterns. METHODS: The series consists of operated

  17. Urethral dysontogenic metaplasia in cat with bilateral renal dysplasia

    Directory of Open Access Journals (Sweden)

    Carolina da Fonseca Sapin

    2017-10-01

    Full Text Available This paper to describe a case of dysontogenic urethral metaplasia in a one month old mongrel feline who also had bilateral renal dysplasia. Dysontogenic metaplasia in cats are scarce and this change may be associated with renal dysplasia and/or lower urinary tract. The animal had history of abdominal enlargement since birth and dysuria, eliminating urine only dropwise. Due to the poor prognosis we opted for euthanasia. At necropsy was observed enlarged and distended bladder, reduced kidneys and dilated and tortuous ureters. The urethra was thickened, hard to cut, and histologically, was replacing the connective tissue, cartilage and endochondral ossification areas, which features dysontogenic metaplasia. Both kidneys presented primitive appearance featuring dysplasia. Dysontogenic metaplasia in urinary tract feline with renal dysplasia, has not been described.

  18. Management of Alveolar Proteinosis by Bronchopulmonary lavage under Extra Corporeal Membrane Oxygenation (ECMO

    Directory of Open Access Journals (Sweden)

    Tahereh Parsa

    2015-12-01

    Full Text Available Normal 0 false false false EN-US X-NONE AR-SA The gold standard of treating Pulmonary Alveolar Proteinosis (PAP is bronchopulmonary lavage (BPL. We describe a rare case of BPD for PAP, who underwent ECMO due to hypoventilation in the setting of one lung ventilation. First, the clinical course of the patient is presented; furthermore, the biomolcular basis of PAP and new treatment approaches is discussed. /* Style Definitions */ table.MsoNormalTable {mso-style-name:"Table Normal"; mso-tstyle-rowband-size:0; mso-tstyle-colband-size:0; mso-style-noshow:yes; mso-style-priority:99; mso-style-qformat:yes; mso-style-parent:""; mso-padding-alt:0cm 5.4pt 0cm 5.4pt; mso-para-margin-top:0cm; mso-para-margin-right:0cm; mso-para-margin-bottom:10.0pt; mso-para-margin-left:0cm; line-height:115%; mso-pagination:widow-orphan; font-size:10.0pt; font-family:"Times New Roman","serif"; mso-fareast-font-family:Calibri; mso-bidi-font-family:"B Nazanin";} Normal 0 false false false EN-US X-NONE AR-SA  

  19. Two year follow-up of a garbage collector with allergic bronchopulmonary aspergillosis (ABPA).

    Science.gov (United States)

    Allmers, H; Huber, H; Baur, X

    2000-04-01

    Separate collection of biodegradable garbage and recyclable waste is expected to become mandatory in some western countries. A growing number of persons engaged in garbage collection and separation might become endangered by high loads of bacteria and fungi. Case history and examination A 29 year old garbage collector involved in emptying so-called biological garbage complained of dyspnea, fever, and flu-like symptoms during work beginning in the summer of 1992. Chest x-ray showed streaky shadows near both hili reaching into the upper regions. IgE- and IgG-antibodies (CAP, Pharmacia, Sweden) were strongly positive for Aspergillus fumigatus with 90.5 kU/L and 186%, respectively. Total-IgE was also strongly elevated with 5430 kU/L. Bronchial challenge testing with commercially available Aspergillus fumigatus extract resulted in an immediate-type asthmatic reaction. Two years later he was still symptomatic and antibodies persisted at lower levels. Our diagnosis was allergic bronchopulmonary aspergillosis (ABPA) including asthmatic responses as well as hypersensitivity pneumonitis (extrinsic allergic alveolitis) due to exposure to moldy household waste. A growing number of persons engaged in garbage collection and handling are exposed and at risk to develop sensitization to fungi due to exposure to dust of biodegradable waste. Further studies are necessary to show if separate collection of biodegradable waste increases the health risks due to exposure to bacteria and fungi in comparison to waste collection without separation. Copyright 2000 Wiley-Liss, Inc.

  20. Lung segment geometry study: simulation of largest possible tumours that fit into bronchopulmonary segments.

    Science.gov (United States)

    Welter, S; Stöcker, C; Dicken, V; Kühl, H; Krass, S; Stamatis, G

    2012-03-01

    Segmental resection in stage I non-small cell lung cancer (NSCLC) has been well described and is considered to have similar survival rates as lobectomy but with increased rates of local tumour recurrence due to inadequate parenchymal margins. In consequence, today segmentectomy is only performed when the tumour is smaller than 2 cm. Three-dimensional reconstructions from 11 thin-slice CT scans of bronchopulmonary segments were generated, and virtual spherical tumours were placed over the segments, respecting all segmental borders. As a next step, virtual parenchymal safety margins of 2 cm and 3 cm were subtracted and the size of the remaining tumour calculated. The maximum tumour diameters with a 30-mm parenchymal safety margin ranged from 26.1 mm in right-sided segments 7 + 8 to 59.8 mm in the left apical segments 1-3. Using a three-dimensional reconstruction of lung CT scans, we demonstrated that segmentectomy or resection of segmental groups should be feasible with adequate margins, even for larger tumours in selected cases. Thieme Medical Publishers 333 Seventh Avenue, New York, NY 10001, USA.

  1. Beneficial effects of Omalizumab therapy in allergic bronchopulmonary aspergillosis: A synthesis review of published literature.

    Science.gov (United States)

    Li, Jian-Xiong; Fan, Li-Chao; Li, Man-Hui; Cao, Wei-Jun; Xu, Jin-Fu

    2017-01-01

    Omalizumab, a humanized mAb that binds to IgE, has been an effective therapy for patients with severe allergic asthma; however, there are few clinical trials examining the efficacy of Omalizumab in patients with allergic bronchopulmonary aspergillosis (ABPA) except some case reports. To assess the clinical and immunological effects of Omalizumab in ABPA patients, we made a synthesis review of 102 cases from 30 published literature, analyzed the effects of Omalizumab therapy in ABPA and conducted subgroup analyses to determine factors that influenced the therapy endpoints. We found that Omalizumab treatment not only provided a clinically important reduction in serum IgE, exacerbation rates and steroid requirement, but also showed attenuated asthma symptoms and improved pulmonary function parameters in patients with ABPA. Moreover, further discussion was made when interpretating the results. Double-blind, randomized, placebo-controlled trials are necessary to establish the efficacy and safety of this novel therapeutic intervention for ABPA patients. Copyright © 2016 Elsevier Ltd. All rights reserved.

  2. Differential expression and prognostic value of the chemokine receptor CXCR4 in bronchopulmonary neuroendocrine neoplasms

    Science.gov (United States)

    Specht, Elisa; Wirtz, Ralph M.; Sayeg, Manal; Baum, Richard P.; Schulz, Stefan; Lupp, Amelie

    2015-01-01

    Introduction For many tumors, the overexpression of the chemokine receptor CXCR4 is associated with increased malignancy and poor patient outcomes. However, comprehensive data for neuroendocrine neoplasms of the lung are still lacking. Methods CXCR4 expression was evaluated in a panel of bronchopulmonary neuroendocrine neoplasms (BP-NEN) comprising typical carcinoids (n = 26), atypical carcinoids (n = 30), and small cell lung cancers (SCLC, n = 34). Samples were analyzed by immunohistochemistry using the novel monoclonal rabbit anti-human CXCR4 antibody UMB-2 and by qRT-PCR. The expression was correlated with clinical data and overall patient survival. Results CXCR4 was predominantly localized at the plasma membrane of the tumor cells. CXCR4 was expressed with a high intensity in almost all of the 30 SCLC samples. In contrast, it was detected infrequently and with low intensity in the typical carcinoid and atypical carcinoid samples. There was a significant correlation between the immunohistochemistry and qRT-PCR data. Additionally, there was a significant negative relationship between CXCR4 expression and overall survival. Conclusions With increasing malignancy, BP-NEN clearly differ in the extent of CXCR4 expression. As in other tumor entities, CXCR4 overexpression significantly correlates with negative patient outcome. Due to its particular high expression rate in SCLC, CXCR4 may serve as a promising new target for diagnostic and pharmacological intervention as well as for peptide receptor-based radionuclide therapy. PMID:25671300

  3. p63 in skin development and ectodermal dysplasias

    Science.gov (United States)

    Koster, Maranke I.

    2010-01-01

    The transcription factor p63 is critically important for skin development and maintenance. Processes that require p63 include epidermal lineage commitment, epidermal differentiation, cell adhesion, and basement membrane formation. Not surprisingly, alterations in the p63 pathway underlie a subset of ectodermal dysplasias, developmental syndromes in which the skin and skin appendages do not develop normally. This review summarizes the current understanding of the role of p63 in normal development and ectodermal dysplasias. PMID:20445549

  4. Hereditary hypohidrotic ectodermal dysplasia: report of a rare case.

    Science.gov (United States)

    Paramkusam, Geetha; Meduri, Venkateswarlu; Nadendla, Lakshmi Kavitha; Shetty, Namratha

    2013-09-01

    Hereditary Hypohidrotic Ectodermal Dysplasia (HHED), an X-linked, recessive, Mendelian character, is seen usually in males and it is inherited through female carriers. It is characterised by congenital dysplasia of one or more ectodermal structures and it is manifested by hypohidrosis, hypotrichosis and hypodontia. It results from abnormal morphogenesis of cutaneous and oral embryonic ectoderm. Here, we are presenting a rare case of HHED in a 19 year female with classic features of this condition.

  5. Brachial artery aneurysm and thrombosis secondary to fibromuscular dysplasia

    Directory of Open Access Journals (Sweden)

    Julia Louise Jones, MBBS

    2016-09-01

    Full Text Available Fibromuscular dysplasia is a pathologic process causing stenosis and dilation of medium-caliber arteries of unknown etiology. It most commonly affects the renal and carotid arteries; however, it has been described in virtually all anatomic areas, including, rarely, the brachial artery. We describe a case of brachial artery aneurysm and thrombosis in a 29-year-old man secondary to fibromuscular dysplasia, treated surgically with excision, embolectomy, interposed vein graft, and anticoagulation.

  6. Adult-onset Rasmussen encephalitis associated with focal cortical dysplasia.

    Science.gov (United States)

    Hohenbichler, Katharina; Lelotte, Julie; Lhommel, Renaud; Tahry, Riëm El; Vrielynck, Pascal; Santos, Susana Ferrao

    2017-12-01

    Rasmussen encephalitis is a rare, devastating condition, typically presenting in childhood. Cases of adult-onset Rasmussen have also been described, but the clinical picture is less defined, rendering final diagnosis difficult. We present a case of adult-onset Rasmussen encephalitis with dual pathology, associated with focal cortical dysplasia and encephalitis. We interpreted the Rasmussen encephalitis to be caused by severe and continuous epileptic activity due to focal cortical dysplasia. The best therapeutic approach for such cases remains unclear.

  7. Chondrosarcoma occurring in a patient with polyostotic fibrous dysplasia

    Energy Technology Data Exchange (ETDEWEB)

    De Smet, A.A.; Travers, H.; Neff, J.R.

    1981-12-01

    A 36-year-old white man with polyostotic fibrous dysplasia was found to have a high-grade chondrosarcoma arising from the left ilium. Although a left hemipelvectomy was performed, the patient subsequently developed sacral and pulmonary metastases and succumbed to his disease. This patient represents the first documented example of an unequivocally high-grade chondrosarcoma arising in an area of fibrous dysplasia without prior irradiation.

  8. 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.

  9. The association between gender and familial prevalence of hip dysplasia in Danish patients

    DEFF Research Database (Denmark)

    El Jashi, Rima; Gustafson, Maria B; Jakobsen, Mette B

    2017-01-01

    BACKGROUND: The development of hip dysplasia is associated with several risk factors. 1 of these risk factors is gender, since 80% of patients with symptomatic hip dysplasia are females. Another risk factor for hip dysplasia is familial predisposition of hip dysplasia. Several studies indicate...... that the risk of hip dysplasia is increased with familial prevalence of hip dysplasia. However, little is known about the association between the familial prevalence and gender and the development of hip dysplasia. PURPOSE: The aim of the study was to estimate the prevalence of hip dysplasia among relatives...... to Danish patients with hip dysplasia operated with periacetabular osteotomy (PAO), and the degree of relationship of affected family members. Furthermore, to assess the association between gender and family predisposition in the same group of patients. METHOD: The study is a cross-sectional study...

  10. 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.

  11. Hypohidrotic ectodermal dysplasia: a clinical case with a longitudinal approach.

    Science.gov (United States)

    Fraiz, Fabian Calixto; Gugisch, Renato Cordeiro; Cavalcante-Leão, Bianca Lopes; Macedo, Liliane Moreira

    2014-11-01

    This paper describes a clinical case of a male with hypohidrotic ectodermal dysplasia submitted to rehabilitation and occlusal dental interventions with follow-up from 3 to 14 years of age. Due to the severe effects on function and esthetics, the clinical manifestations of ectodermal dysplasia exert a negative impact on quality of life. However, oral rehabilitation in childhood poses a challenge due to growth and development. A male with hypohidrotic ectodermal dysplasia began dental intervention at the age of 3 years. The clinical and radiographic exams revealed the absence of several primary and permanent teeth and abnormal shape of the primary maxillary incisors. The facial characteristics were compatible with hypohidrotic ectodermal dysplasia, such as a prominent brow, everted lips, fattened bridge of the nose and small vertical facial height. The treatment proposed involved rehabilitation through successive temporary partial dentures, functional orthopedics of the jaws, esthetic reconstruction of the anterior teeth, timely occlusal intervention and preventive actions for the control of dental caries and plaque. The present case demonstrates that early care plays a fundamental role in minimizing the biopsychosocial consequences of hypohidrotic ectodermal dysplasia and preparing the patient for future oral rehabilitation. Although, the literature offers a number of papers describing dental treatment for ectodermal dysplasia, few cases include long-term follow-up and the use of a functional orthopedic appliance in combination with removable dentures in such patients.

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

    International Nuclear Information System (INIS)

    Troelsen, Anders; Elmengaard, Brian; Soeballe, Kjeld; Roemer, Lone; Kring, Soeren

    2010-01-01

    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

  13. 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

  14. Papillary bile duct dysplasia in primary sclerosing cholangitis.

    Science.gov (United States)

    Ludwig, J; Wahlstrom, H E; Batts, K P; Wiesner, R H

    1992-06-01

    A 62-year-old man with a 20-year history of chronic ulcerative colitis and a 9-year history of primary sclerosing cholangitis (PSC) underwent orthotopic liver transplantation because of symptoms related to PSC and cholangiographic features compatible with a biliary neoplasm. Study of the excised liver revealed papillary mucosal lesions in the common hepatic duct and the right and left hepatic ducts as well as cholangiectases and other features typically associated with PSC. The papillary lesions consisted of abundant fibrovascular stroma covered by biliary epithelium with low-grade and high-grade dysplasia. Some periductal glands were also dysplastic. These features distinguished papillary dysplasia from classic biliary papillomatosis. Only one focus of microinvasion was found; there were no metastases. Among 60 cases of PSC in whom the entire liver could be studied after orthotopic liver transplantation, this was the only instance of unequivocal dysplasia. However, in one specimen, papillary hyperplasia was found. Detailed macroscopic and microscopic rereview of 23 livers from our patients with the longest history of PSC (range, 5-24 years) failed to reveal any additional cases with dysplasia. It is concluded that (a) papillary mucosal lesions in PSC may represent papillary dysplasia without invasion; (b) these lesions may evolve from papillary hyperplasia; (c) the process may be largely, if not entirely, in situ; and (d) the prevalence of dysplasia and carcinoma of bile ducts may be less than the 7%-9% reported in the literature for malignancies associated with PSC.

  15. Invasive treatment for carotid fibromuscular dysplasia

    Science.gov (United States)

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

    2015-01-01

    Introduction Fibromuscular dysplasia (FMD) is an infrequent non-inflamatory disease of unknown etiology that affects mainly medium-size arteries. The prevalence of FMD among patients scheduled for endovascular treatment of carotid artery stenosis is unknown. Aim To evaluate the prevalence and treatment options of carotid FMD in patients scheduled for carotid artery stenting (CAS). Material and methods Between Jan 2001 and Dec 2013, 2012 CAS procedures were performed in 1809 patients (66.1% men; age 65.3 ±8.4 years, 49.2% symptomatic). In case of FMD suspicion in Doppler-duplex ultrasound (DUS), computed tomography angiography was performed for aortic arch and extracranial and intracranial artery imaging. For invasive treatment of FMD carotid stenosis, balloon angioplasty was considered first. If the result of balloon angioplasty was not satisfactory (> 30% residual stenosis, dissection), stent placement was scheduled. All patients underwent follow-up DUS and neurological examination 3, 6 and 12 months after angioplasty, then annually. Results There were 7 (0.4%) (4 symptomatic) cases of FMD. The FMD group was younger (47.9 ±7.5 years vs. 67.2 ±8.9 years, p = 0.0001), with higher prevalence of women (71.4% vs. 32.7%, p = 0.0422), a higher rate of dissected lesions (57.1% vs. 4.6%, p = 0.0002) and less severe stenosis (73.4% vs. 83.9%, p = 0.0070) as compared to the non-FMD group. In the non-FMD group the prevalence of coronary artery disease was higher (65.1% vs. 14.3% in FMD group, p = 0.009). All FMD patients underwent successful carotid artery angioplasty with the use of neuroprotection devices. In 4 cases angioplasty was supported by stent implantation. Conclusions Fibromuscular dysplasia is rare among patients referred for CAS. In case of significant FMD carotid stenosis, it may be treated with balloon angioplasty (stent supported if necessary) with optimal immediate and long-term results. PMID:26161104

  16. Clinical characteristics of biopsy-proven allergic bronchopulmonary mycosis: variety in causative fungi and laboratory findings.

    Science.gov (United States)

    Ishiguro, Takashi; Takayanagi, Noboru; Kagiyama, Naho; Shimizu, Yoshihiko; Yanagisawa, Tsutomu; Sugita, Yutaka

    2014-01-01

    The diagnosis of allergic bronchopulmonary mycosis (ABPM) has traditionally relied widely on Rosenberg's criteria, which emphasize immunologic responses while overlooking the investigation of mucous plugs as a primary criterion. Therefore, the characteristics of biopsy-proven ABPM require further elucidation. The aim of this study was to analyze the clinical characteristics of biopsy-proven ABPM and address whether full compliance with clinical criteria, such as the presence of asthma, and certain laboratory findings is necessary to establish a diagnosis of ABPM. We retrospectively analyzed 17 patients with biopsy-proven ABPM focusing on causative fungi and laboratory findings. Causative fungi included Aspergillus sp. in seven patients, Schizophyllum commune in four patients, Penicillium sp. in two patients and unknown in five patients. Bronchial asthma was observed in 10 patients, eosinophilia was observed in 10 patients and an increased serum immunoglobulin (Ig) E level was observed in 14 of the 17 patients. IgG for Aspergillus sp. was positive in six of the seven patients with ABPM due to Aspergillus and turned positive in the remaining patient during follow-up. Technological limitations prevented the measurement of specific IgE for S. commune and IgG for S. commune and Penicillium sp. in most patients. Computed tomography revealed central bronchiectasis, pulmonary infiltration and mucous plugs in all patients. Causative fungi other than Aspergillus sp. are not uncommon, and immunological tests for other fungi should be popularized. Asthma and characteristic laboratory findings, such as peripheral blood eosinophilia, increased serum IgE and precipitating antibodies, may not always be required to diagnose ABPM. The importance of typical pathologic findings of mucous plugs for diagnosing ABPM requires reevaluation. Further studies are needed to establish more elaborate diagnostic criteria for ABPM.

  17. Omalizumab in the treatment of allergic bronchopulmonary aspergillosis: One center's experience with 14 cases.

    Science.gov (United States)

    Aydın, Ömür; Sözener, Zeynep Çelebi; Soyyiğit, Şadan; Kendirlinan, Reşat; Gençtürk, Zeynep; Mısırlıgil, Zeynep; Mungan, Dilşad; Sin, Betül Ayşe; Demirel, Yavuz Selim; Çelik, Gülfem Elif; Bavbek, Sevim

    2015-01-01

    Omalizumab has been a valuable option for patients with severe allergic asthma, but there are only case reports regarding effectiveness of omalizumab in patients with allergic bronchopulmonary aspergillosis (ABPA). To evaluate the clinical and functional effectiveness of omalizumab in patients with asthma and ABPA in long-term follow-up. The study was conducted as a retrospective chart review of patients with ABPA who were treated with omalizumab injections between December 2008 and June 2014. Once treatment with omalizumab was started, data were collected at three time points: at baseline, after 1 year, and, in June 2014, at the last follow-up. Fourteen patients with ABPA (seven women and seven men; mean [± standard deviation (SD)] age, 44.21 ± 13.01 years) were included. The treatment period was 31.5 ± 3.99 months (mean ± SD). The difference between the baseline and the last evaluation of the mean percentage of forced expiratory volume in 1 second (FEV1) was significant (p = 0.02). The mean asthma control test score was increased at all-time points compared with the basal score (p = 0.001). After omalizumab treatment was initiated, the patients' mean oral corticosteroid dosage significantly decreased (p = 0.001). The baseline exacerbation rate was 2.7 ± 1.5/y (mean ± SD), and the hospitalization rate was 1.4/y, and both were zero at the last assessment (p = 0.001). Eleven of the patients (78.6%) responded perfectly, and three (21.4%) partially responded to treatment. The patients who had a total immunoglobulin E level of 1000 IU/mL (p = 0.05). Omalizumab provided a clinically important reduction in exacerbations and steroid requirement, and improved asthma symptoms and pulmonary function parameters in patients with asthma and ABPA who had previously shown an unsatisfactory response to Global Initiative for Asthma step 4 treatment.

  18. Clinical efficacy and immunologic effects of omalizumab in allergic bronchopulmonary aspergillosis.

    Science.gov (United States)

    Voskamp, Astrid L; Gillman, Andrew; Symons, Karen; Sandrini, Alessandra; Rolland, Jennifer M; O'Hehir, Robyn E; Douglass, Jo A

    2015-01-01

    Allergic bronchopulmonary aspergillosis (ABPA) often presents with persistently uncontrolled asthma despite the use of corticosteroids and antifungal therapy. Omalizumab is a humanized anti-IgE monoclonal antibody currently used to treat severe asthma. The aim was to assess the clinical and immunologic effects of omalizumab in ABPA in a randomized, placebo-controlled trial. Patients with chronic ABPA were randomized to 4-month treatment with omalizumab (750 mg monthly) or placebo followed by a 3-month washout period in a cross-over design. The main endpoint was number of exacerbations. Other clinical endpoints included lung function, exhaled nitric oxide (FeNO), quality of life and symptoms. In vitro basophil activation to Aspergillus fumigatus extract and basophil FcεR1 and surface-bound IgE levels were assessed by flow cytometry. Thirteen patients were recruited with mean total IgE 2314 ± 2125 IU/mL. Exacerbations occurred less frequently during the active treatment phase compared with the placebo period (2 vs 12 events, P = .048). Mean FeNO decreased from 30.5 to 17.1 ppb during omalizumab treatment (P = .03). Basophil sensitivity to A. fumigatus and surface-bound IgE and FcεR1 levels decreased significantly after omalizumab but not after placebo. Omalizumab can be used safely to treat ABPA, despite high serum IgE levels. Clinical improvement was accompanied by decreased basophil reactivity to A. fumigatus and FcεR1 and surface-bound IgE levels. Copyright © 2015 American Academy of Allergy, Asthma & Immunology. Published by Elsevier Inc. All rights reserved.

  19. Case series of omalizumab for allergic bronchopulmonary aspergillosis in cystic fibrosis patients.

    Science.gov (United States)

    Nové-Josserand, Raphaële; Grard, Soazic; Auzou, Lila; Reix, Philippe; Murris-Espin, Marlène; Brémont, François; Mammar, Benyebka; Mely, Laurent; Hubert, Dominique; Durieu, Isabelle; Burgel, Pierre-Régis

    2017-02-01

    Allergic bronchopulmonary aspergillosis (ABPA) affects up to 15% of patients with cystic fibrosis (CF). Corticosteroids are used as first-line therapy, but relapse and adverse effects commonly occur. Case reports have suggested the efficacy of the anti-IgE recombinant humanized monoclonal antibody omalizumab. A retrospective multicenter observational French study retrieved 32 CF patients (11 children and 21 adults) who have received omalizumab for more than 3 months in the context of ABPA. Clinical characteristics, concomitant medications (inhaled and oral corticosteroids, antifungal drugs), lung function, body mass index (BMI), and serum IgE were compared at the start and during the first year of omalizumab therapy. Omalizumab-related adverse effects and costs were also evaluated. No significant difference with omalizumab could be demonstrated with regard to lung function, BMI, or the number of patients receiving oral corticosteroids. At the time of initiation of omalizumab, 56% of patients were receiving oral corticosteroids. Five patients were able to discontinue corticosteroids during follow-up and nine patients were able to reduce their daily dose. A total of 78% of the patients had received antifungal therapy at the time of the initiation of omalizumab. Treatment tolerance was good (12.5% of patients experienced side effects). The median cost of omalizumab treatment was €3,620 per patient per month. Omalizumab may represent a steroid-sparing therapy in CF patients with ABPA. A randomized-controlled trial is urgently required to provide higher level of evidence regarding the efficacy and cost-effectiveness of omalizumab in CF patients with ABPA. Pediatr Pulmonol. 2017;52:190-197. © 2016 Wiley Periodicals, Inc. © 2016 Wiley Periodicals, Inc.

  20. Bronchopulmonary hygiene physical therapy for chronic obstructive pulmonary disease and bronchiectasis.

    Science.gov (United States)

    Jones, A P; Rowe, B H

    2000-01-01

    Bronchopulmonary hygiene physical therapy is a form of chest physical therapy including chest percussion and postural drainage to remove lung secretions. These are applied commonly to patients with both acute and chronic airway diseases. Despite controversies in the literature regarding its efficacy, it remains in use in a variety of clinical settings. The various forms of this therapy are labour intensive and need to be evaluated. The objective of this review was to assess the effects of bronchial hygiene physical therapy in people with chronic obstructive pulmonary disease and bronchiectasis. We searched the Cochrane Airways Group trials register and reference lists of articles up to July 1997. We also wrote to study authors. Randomised trials in which postural drainage, chest percussion, vibration, chest shaking, directed coughing or forced exhalation technique was compared to other drainage or breathing techniques, placebo or no treatment. Two reviewers applied the inclusion and exclusion criteria on masked publications independently. They assessed the trial quality independently. Only data from the first arm of crossover trials were included. The seven included trials involved six comparisons and a total of 126 people. The trials were small and not generally of high quality. The results could not be combined as trials addressed different patient groups and outcomes. In most comparisons, bronchial hygiene physical therapy produced no significant effects on pulmonary function, apart from clearing sputum in chronic obstructive pulmonary disease and in bronchiectasis. There is not enough evidence to support or refute the use of bronchial hygiene physical therapy in people with chronic obstructive pulmonary disease and bronchiectasis.

  1. WITHDRAWN: Bronchopulmonary hygiene physical therapy for chronic obstructive pulmonary disease and bronchiectasis.

    Science.gov (United States)

    Jones, Arthur P; Rowe, Brian H

    2011-07-06

    Bronchopulmonary hygiene physical therapy is a form of chest physical therapy including chest percussion and postural drainage to remove lung secretions. These are applied commonly to patients with both acute and chronic airway diseases. Despite controversies in the literature regarding its efficacy, it remains in use in a variety of clinical settings. The various forms of this therapy are labour intensive and need to be evaluated. The objective of this review was to assess the effects of bronchial hygiene physical therapy in people with chronic obstructive pulmonary disease and bronchiectasis. We searched the Cochrane Airways Group trials register and reference lists of articles up to January 2007. We also wrote to study authors. Randomised trials in which postural drainage, chest percussion, vibration, chest shaking, directed coughing or forced exhalation technique was compared to other drainage or breathing techniques, placebo or no treatment. Two reviewers applied the inclusion and exclusion criteria on masked publications independently. They assessed the trial quality independently. Only data from the first arm of crossover trials were included. The seven included trials involved six comparisons and a total of 126 people. The trials were small and not generally of high quality. The results could not be combined as trials addressed different patient groups and outcomes. In most comparisons, bronchial hygiene physical therapy produced no significant effects on pulmonary function, apart from clearing sputum in chronic obstructive pulmonary disease and in bronchiectasis. An update search carried out in January 2007 did not identify any new studies for inclusion. There is not enough evidence to support or refute the use of bronchial hygiene physical therapy in people with chronic obstructive pulmonary disease and bronchiectasis.

  2. Isoflurane depolarizes bronchopulmonary C neurons by inhibiting transient A-type and delayed rectifier potassium channels.

    Science.gov (United States)

    Zhang, Zhenxiong; Zhuang, Jianguo; Zhang, Cancan; Xu, Fadi

    2013-04-01

    Inhalation of isoflurane (ISO), a widely used volatile anesthetic, can produce clinical tachypnea. In dogs, this response is reportedly mediated by bronchopulmonary C-fibers (PCFs), but the relevant mechanisms remain unclear. Activation of transient A-type potassium current (IA) channels and delayed rectifier potassium current (IK) channels hyperpolarizes neurons, and inhibition of both channels by ISO increases neural firing. Due to the presence of these channels in the cell bodies of rat PCFs, we determined whether ISO could stimulate PCFs to produce tachypnea in anesthetized rats, and, if so, whether this response resulted from ISO-induced depolarization of the pulmonary C neurons via the inhibition of IA and IK. We recorded ventilatory responses to 5% ISO exposure in anesthetized rats before and after blocking PCF conduction and the responses of pulmonary C neurons (extracellularly recorded) to ISO exposure. ISO-induced (1mM) changes in pulmonary C neuron membrane potential and IA/IK were tested using the perforated patch clamp technique. We found that: (1) ISO inhalation evoked a brief tachypnea (∼7s) and that this response disappeared after blocking PCF conduction; (2) the ISO significantly elevated (by 138%) the firing rate of most pulmonary C neurons (17 out of 21) in the nodose ganglion; and (3) ISO perfusion depolarized the pulmonary C neurons in the vitro and inhibited both IA and IK, and this evoked-depolarization was largely diminished after blocking both IA and IK. Our results suggest that ISO is able to stimulate PCFs to elicit tachypnea in rats, at least partly, via inhibiting IA and IK, thereby depolarizing the pulmonary C neurons. Copyright © 2013. Published by Elsevier B.V.

  3. [The relation of severe obstructive disorders to ventilation found in young patients with bronchitis and bronchopulmonary diseases in childhood].

    Science.gov (United States)

    Duţu, S; Jienescu, Z; Bîscă, N; Bistriceanu, G

    1989-01-01

    Of the patients with chronic obstructive pulmonary disease (COLD) and severe obstructive syndrome, 39 whose age was under 40 were selected. In 23 of them, the anamnesis revealed bronchopulmonary affections in childhood, that required admission into the hospital (19 were non-smokers). Of the rest of 16 patients, 14 were hard smokers that started to smoke before the age of 14. The functional picture was severely modified, similarly to that of the COLD patients in the 6th decade of life. This suggests that the degradation process started in the childhood, and that the chronic respiratory diseases and/or smoking at an early age had an important role.

  4. [The prevention and treatment of suppurative-inflammatory complications in the bronchopulmonary system during prolonged artificial ventilation].

    Science.gov (United States)

    Mozhaev, G A; Tikhonovskiĭ, I Iu

    1992-01-01

    The use of physical methods, namely low frequency magnetic field in critically ill patients under respiratory therapy made it possible to prevent and in case of their development to effectively treat pyoinflammatory bronchopulmonary complications that accompany prolonged controlled lung ventilation. The results obtained were due to the elimination of an unfavourable effect of controlled lung ventilation on natural resistance and immune response of the respiratory tract because of normalization of physicochemical properties of the tracheobronchial tree secretion, enhanced functional capacities of phagocytes, repaired bonds between cellular and humoral local immunity in the lungs.

  5. Periapical cemento-osseous dysplasia: clinicopathological features.

    Science.gov (United States)

    Roghi, Marco; Scapparone, Chiara; Crippa, Rolando; Silvestrini-Biavati, Armando; Angiero, Francesca

    2014-05-01

    Periapical cemento-osseous dysplasia (PCOD) is a rare benign lesion, often asymptomatic, in which fibrous tissue replaces the normal bone tissue, with metaplasic bone and neo-formed cement. We present a rare case of mandibular PCOD in a woman of 55 years, who presented with moderate swelling and mobility of teeth 32-33-34. Endoral radiography showed that these teeth had been devitalized; they had deep periodontal pockets and marked radicular radiotransparency; the root apices exhibited mixed radiotransparency and radio-opacity. Clinical and radiographical findings led to a diagnosis of periapical rarefying osteitis, and the three teeth were thus extracted. Due to the persistence of swelling and slight pain post-extraction, a cone-beam computed tomographic scan was taken; this showed a mixed radiotransparent and radio-opaque lesion in the area of the extracted teeth. A bone biopsy of the affected area was taken for histopathological evaluation; a diagnosis of PCOD was rendered. This case demonstrates the importance of a full investigation when a patient presents after tooth extraction with non-healing socket, pain, and swelling. A multidisciplinary approach is required to manage these rare cases.

  6. [Mondini dysplasia: recurrent bacterial meningitis in adolescence].

    Science.gov (United States)

    Vargas-Dĭaz, J; Garófalo-Gómez, N; Rodríguez, U; Parra, M; Barroso-García, E; Novoa-López, L; Rojas-Massipe, E; Sardiñas-Hernández, N L

    Episodes of recurrent bacterial meningitis can occur in patients due to either congenital or acquired disorders. Congenital deformity of the bony labyrinth can be linked to a fistulous tract communicating it with the intracranial subarachnoid space. Mondini deformity is a frequent malformation in congenitally deaf patients. We report the case of an adolescent with a history of being unable to hear in one ear who, from the age of 10 years, began to suffer repeated bacterial meningoencephalitis with microbiological recovery of Streptococcus pneumoniae on three occasions. The type of germ recovered in the cerebrospinal fluid (CSF) and the history of congenital deafness that was detected when the patient was 3 years old were the diagnostic clues to the possible anomaly of the inner ear with a CSF fistula. The clinically proven CSF rhinorrhea contributed to the diagnosis of an ear anomaly with a fistula. Computerised axial tomography and magnetic resonance studies of the petrous portion of the temporal bone revealed the malformation that was later found and closed during the surgical intervention on the affected ear. The clinical absence of rhinorrhea, a year's progression without new infections after operating on the patient and post-surgery imaging studies were all proof that the fistula had closed. Mondini dysplasia with CSF fistula must be included as a possible diagnosis when faced with a patient with recurrent bacterial meningoencephalitis. Imaging studies, especially magnetic resonance, enable the clinician to check the diagnosis and the CSF fistula can be closed with ear surgery.

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

    International Nuclear Information System (INIS)

    Vaida, T.; Maghiar, F.; Cosma, C.; Ristoiu, D.; Ramboiu, S.; Pacurar, V.; Poffijn, A.

    1996-01-01

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

  8. Retinal tear presenting in a patient with ectrodactyly ectodermal dysplasia.

    Science.gov (United States)

    Grogg, Jane Ann; Port, Nicholas; Graham, Trevor

    2014-04-01

    This article aims to report a case of known ectrodactyly ectodermal dysplasia in a young male patient who subsequently was found to have a retinal tear and localized retinal detachment. This is a case report of a 22-year-old white male patient with a history of ectrodactyly ectodermal dysplasia. Our patient initially presented with an acute exacerbation of bilateral, red, irritated eyes. No recent changes in vision were reported. The patient's ocular surface disease was consistent with ectrodermal dysplasia syndrome. However, a dilated fundus examination revealed an asymptomatic retinal tear with a surrounding localized retinal detachment. In this case, the patient presented with longstanding ocular surface disease known to be associated with this patient's inherited ectoderm disorder. In addition, this patient revealed a retinal tear, raising the possibility that patients with inherited congenital ectodermal dysplasia could be at risk for damaged structures originating from the neural ectoderm. In this heterogeneous disease, we are contributing to the existing literature a case of ectodermal dysplasia syndrome with obvious ectodermal complications that also had retinal findings leading us to speculate question if neural ectoderm could also be involved in this inherited disease.

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

    Directory of Open Access Journals (Sweden)

    Sousa, Kátia Maria Marabuco de

    2009-09-01

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

  10. Immunohistochemical Expression of MCM-2 in Oral Epithelial Dysplasias.

    Science.gov (United States)

    Zakaria, Samar H; Farag, Heba A; Khater, Dina S

    2016-03-17

    Oral cancer is one of the most frequent cancers in the world. It arises from epithelial dysplasia. Hence, identifying these lesions in an early stage could prevent their malignant transformation. The aim of the present work was to assess the cell proliferative activity of minichromosome maintenance protein (MCM-2) in oral epithelial dysplastic lesions and to correlate the results with different grades of epithelial dysplasia in an attempt to use MCM-2 in the early detection of malignancy. MCM-2 expression was determined by the nuclear count in a total of 30 oral epithelial dysplastic specimens roughly classified into 10 cases of mild, moderate, and severe dysplasia. Five cases of early invasive squamous-cell carcinomas and 5 cases of epithelial hyperplasia were also included. The MCM-2 immunostaining was found to increase gradually from mild to moderate to severe dysplasia and reached its maximum value in early invasive squamous cell carcinoma. MCM-2 is of prognostic value in cases of oral dysplasia that have a tendency to undergo malignant transformation.

  11. 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.

  12. Concurrent follicular dysplasia and interface dermatitis in Boxer dogs.

    Science.gov (United States)

    Rachid, Milene A; Demaula, Christopher D; Scott, Danny W; Miller, William H; Senter, David A; Myers, Sherry

    2003-06-01

    Recurrent or persistent follicular dysplasia and interface dermatitis are described in nine Boxers. Data on age, sex, seasonality of alopecia and histopathological features of the follicular dysplasia in these nine Boxers are comparable with those described in previous reports. The interface dermatitis was characterized by multifocal annular crusted lesions confined to the areas of follicular dysplasia. The inflammatory lesions were neither pruritic nor painful and affected dogs were otherwise healthy. Histopathologically the clinically inflammatory lesions were characterized as an interface dermatitis. Immunohistochemical studies failed to demonstrate immunoglobulins or complement at the basement membrane zone or within blood vessel walls. In dogs with recurrent or persistent disease, the follicular dysplasia and interface dermatitis ran identical, concurrent courses of spontaneous remission and recurrence, or persistence, respectively. One dog with persistent disease was treated successfully with tetracycline and niacinamide for the interface dermatitis, and melatonin for the follicular dysplasia. Although the aetiopathogenesis of this newly described condition and the relationship between the two histological reaction patterns are not known, photoperiod and genetic predisposition appear to play a role.

  13. Familial florid Cemento-osseous dysplasia - case report and review of literature.

    Science.gov (United States)

    Thorawat, Amit; Kalkur, Chaitra; Naikmasur, Venkatesh G; Tarakji, Bassel

    2015-12-01

    Familial Florid cemento-osseous dysplasia is a very uncommon condition. Cemento-osseous dysplasia is totally asymptomatic in many cases, in those conditions, lesions are detected in a radiograph taken for other purposes. In this report, we describe a family in which mother and daughter exhibited clinical, radiographic, and histologic features of florid cemento-osseous dysplasia.

  14. Paleopathological Study of Dwarfism-Related Skeletal Dysplasia in a Late Joseon Dynasty (South Korean) Population

    OpenAIRE

    Woo, Eun Jin; Lee, Won-Joon; Hu, Kyung-Seok; Hwang, Jae Joon

    2015-01-01

    Skeletal dysplasias related to genetic etiologies have rarely been reported for past populations. This report presents the skeletal characteristics of an individual with dwarfism-related skeletal dysplasia from South Korea. To assess abnormal deformities, morphological features, metric data, and computed tomography scans are analyzed. Differential diagnoses include achondroplasia or hypochondroplasia, chondrodysplasia, multiple epiphyseal dysplasia, thalassemia-related hemolytic anemia, and l...

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

    Energy Technology Data Exchange (ETDEWEB)

    Madsen, J. S.; Svalastoga, E. [Kongelige Veterinaer- og Landbohoejskole, Copenhagen (Denmark)

    1994-07-01

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

  16. 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 dysplasia and hip

  17. Evaluation of reflux nephropathy, pyelonephritis and renal dysplasia

    International Nuclear Information System (INIS)

    Grattan-Smith, J.D.; Little, Stephen B.; Jones, Richard A.

    2008-01-01

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

  18. A case report of arrhythmogenic right ventricular dysplasia

    Directory of Open Access Journals (Sweden)

    Henry Anselmo Mayala

    2013-07-01

    Full Text Available Background Arrhythmogenic right ventricular dysplasia is an autosomal dominant disorder affecting parts of myocardium known as desmosomes, areas on the surface of heart muscle cells which link the cells together. The hallmark feature is fibro-fatty replacement of the right ventricle myocardium characterized by hypokinetic areas with associated arrhythmias originating in the right ventricle. Case Presentation In this report a 42 year old man was admitted at Wuhan union Hospital with the presenting complaints of visual hallucination and difficulty in breathing on exertion, with a family history of sudden death. Clinical and imaging findings are suggestive of Arrhythmogenic right ventricular dysplasia. Conclusion Despite being among the rare cardiac disease, Arrhythmogenic right ventricular dysplasia is an important cause of ventricular arrhythmias in children and young adults, it is also responsible for sudden cardiac death in the young population, making it necessary for this case report.

  19. A case report of arrhythmogenic right ventricular dysplasia

    Directory of Open Access Journals (Sweden)

    Henry Anselmo Mayala

    2013-01-01

    Full Text Available Background Arrhythmogenic right ventricular dysplasia is an autosomal dominant disorder affecting parts of myocardium known as desmosomes, areas on the surface of heart muscle cells which link the cells together. The hallmark feature is fibro-fatty replacement of the right ventricle myocardium characterized by hypokinetic areas with associated arrhythmias originating in the right ventricle. CasePresentation Inthisreporta42yearoldmanwasadmittedatWuhanunion Hospital with the presenting complaints of visual hallucination and difficulty in breathing on exertion, with a family history of sudden death. Clinical and imaging findings are suggestive of Arrhythmogenic right ventricular dysplasia. Conclusion Despitebeingamongtherarecardiacdisease,Arrhythmogenicright ventricular dysplasia is an important cause of ventricular arrhythmias in children and young adults, it is also responsible for sudden cardiac death in the young population, making it necessary for this case report.

  20. Hereditary ectodermal dysplasia: Report of 11 patients from a family

    Directory of Open Access Journals (Sweden)

    Seema Vaidya

    2013-01-01

    Full Text Available Hereditary Ectodermal Dysplasia is an inherited disorder commonly involving skin, teeth, hair, and nails. We have observed ectodermal dysplasia (EDs in 11 individuals over two generations in one family. Smooth, dry, thin skin was seen in most affected individuals. All had fine, slow-growing scalp hair and body hair and some had sparse eyebrows and short eyelashes. Nearly all showed decrease in sweating. Severe teeth abnormalities were seen in all patients and fingernail abnormalities were not so severe but toenail abnormalities were seen in all patients. No other abnormalities were seen in affected individuals in this family. It is very rare to find such a large family having ectodermal dysplasia.

  1. 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.

  2. Death due to complications of anhidrotic ectodermal dysplasia.

    Science.gov (United States)

    Ogden, Emily; Schandl, Cynthia; Tormos, Lee Marie

    2014-11-01

    Ectodermal dysplasia comprises a group of disorders affecting ectodermal tissues. Severity depends on the genetic aberration; hyperpyrexia secondary to absence of sweat glands is a common complication. Treatment is supportive. This case report describes a 1-month, 27-day-old male infant with a diagnosis of X-linked recessive anhidrotic ectodermal dysplasia. On the day of his death, his mother swaddled him in a blanket and placed him on the couch at 5:30 am. When she picked him up at 8:00 am, he was unresponsive. At the emergency department, his rectal temperature was 40°C. Postmortem blood culture was positive for group B streptococcus, a possible etiology for fever. It is vital to teach parents that close monitoring of children with ectodermal dysplasia is necessary, as an increase in body temperature can become life threatening. © 2014 American Academy of Forensic Sciences.

  3. Infantile bilateral glaucoma in a child with ectodermal dysplasia.

    Science.gov (United States)

    Callea, Michele; Vinciguerra, Agatino; Willoughby, Colin E; Deroma, Laura; Clarich, Gabriella

    2013-01-01

    Ectodermal dysplasia is a rare disease which affects at least two ectodermal-derived structures such as hair, nails, skin, sweat glands and teeth. Approximately 200 different conditions have been classified as an ectodermal dysplasia and X-linked hypohidrotic ectodermal dysplasia (XHED) represents the commonest form. Clinically, XHED is characterized by hypotrichosis, hypohidrosis and hypodontia. A variety of ocular manifestations have been reported in XHED, the most common being dryness of eyes due to tear deficiency and instability of the film secondary to the absence of meibomian gland function. Here we report a child with the distinctive clinical features of XHED confirmed with molecular diagnosis who presented with infantile bilateral glaucoma, in addition to the classical ocular involvement in XHED.

  4. FOXI2: a possible gene contributing to ectodermal dysplasia.

    Science.gov (United States)

    Kurban, Mazen; Zeineddine, Savo Bou; Hamie, Lamiaa; Safi, Remi; Abbas, Ossama; Kibbi, Abdul Ghani; Bitar, Fadi; Nemer, Georges

    2017-12-01

    Cardio-facio-cutaneous syndrome (CFC), Noonan syndrome (NS), and Costello syndrome are a group of diseases that belong to the RASopathies. The syndromes share clinical features making diagnosis a challenge. To investigate the phenotype and genotype of a 10-year-old Iraqi girl with overlapping features of CFC, NS, and Costello syndromes, with additional features of ectodermal dysplasia. DNA was examined by exome sequencing and protein expression by immunohistochemistry. Exome sequencing identified a mutation in the SOS1 gene and a de novo deletion in the FOXI2 gene which was neither present in the international databases, nor in 400 chromosomes from the same population. Based on immunohistochemical staining, FOXI2 was identified in the basal cell layer of the skin and overlapped with the expression of P63, a major player in ectodermal dysplasia. We therefore suggest screening for FOXI2 mutation in the setting of ectodermal features that are not associated with genes known to contribute to ectodermal dysplasia.

  5. Individualized Plastic Reconstruction Strategy for Patients With Ectodermal Dysplasia Syndrome.

    Science.gov (United States)

    Hou, Yikang; Jin, Yunbo; Lin, Xiaoxi; Chai, Gang; Zhang, Yan; Qi, Zuoliang

    2017-06-01

    Ectodermal dysplasia syndrome is a hereditary disease of ectodermal origin. Appearances of nail dystrophy, alopecia or hypotrichosis, saddle nose deformity, and palmoplantar hyperkeratosis are usually associated with a lack of sweat glands as well as partial or complete absence of teeth. These manifestations are usually corrected only with oral rehabilitation by mounting dentures. In this study, plastic rehabilitation was developed to correct the special features of patients with ectodermal dysplasia. Four men and 1 woman with ectodermal dysplasia syndrome were treated. Four patients showed dysostosis of the midface, and rhinoplasty with costal bone was performed, whereas cosmetic operation aiming to repair soft tissue defects was adopted for the last patient. After plastic corrections, all 5 patients were satisfied with the results and had no social embarrassment.

  6. Evaluation of reflux nephropathy, pyelonephritis and renal dysplasia

    Energy Technology Data Exchange (ETDEWEB)

    Grattan-Smith, J.D. [Emory University School of Medicine, Children' s Healthcare of Atlanta, Department of Radiology, Atlanta, GA (United States); Children' s Healthcare of Atlanta, Department of Radiology, Atlanta, GA (United States); Little, Stephen B. [Children' s Healthcare of Atlanta, Department of Radiology, Atlanta, GA (United States); Jones, Richard A. [Emory University School of Medicine, Children' s Healthcare of Atlanta, Department of Radiology, Atlanta, GA (United States)

    2008-01-15

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

  7. Radiological analysis of polyostotic fibrous dysplasia in skeletal system

    International Nuclear Information System (INIS)

    Shin, Ma Rie; Kim, Jin Sik; Kim, Han Suk; Park, Soo Soung

    1984-01-01

    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.

  8. Pelvic orientation and assessment of hip dysplasia in adults

    DEFF Research Database (Denmark)

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

    2004-01-01

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

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

    International Nuclear Information System (INIS)

    Hisaoka, Masanori; Hashimoto, Hiroshi; Ohguri, Takayuki; Aoki, Takatoshi; Okamoto, Sumika; Ishida, Tsuyoshi; Tanaka, Hidetoshi; Okimoto, Nobukazu; Nakamura, Toshitaka

    2004-01-01

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

  10. Osseous Dysplasia Accompanied by a Complex Odontoma in the Mandible

    Directory of Open Access Journals (Sweden)

    N Jafari

    2017-05-01

    Full Text Available Introduction: Cement osseous dysplasia is the most common lesion of the family fibrous dysplasia which normal bone is replaced with fibrous tissue and several mineralized material. These lesions may be seen in association with various lesions. Companionship of this lesion with odontoma has been reported rarely. Case report: A 44-year-old female in one year ago has admitted to Shahid Sadoughi Faculty of Dentistry Yazd for treatment of mandibular left third molar. In panoramic radiography in the mandibular left first molar region, a mixed lesion of radiolucent-radiopaque with a corticated borderwas seen. Small swelling was observed in this area. Microscopically, the diagnosis of osseous dysplasia with odontoma for the lesion was confirmed. Conclusion: The reason of companionship of cement osseous lesions whit other lesions is not completely clear and it requires further evaluation.

  11. 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.

  12. Polyostotic Fibrous Dysplasia of Cranio-Maxillofacial Area

    International Nuclear Information System (INIS)

    Han, Jin Woo; Kwon, Hyuk Rok; Lee, Jin Ho; Park, In Woo

    2000-01-01

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

  13. Hereditary ectodermal dysplasia: A retrospective study

    Science.gov (United States)

    More, Chandramani B.; Bhavsar, Khusbhu; Joshi, Jigar; Varma, Saurabh N.; Tailor, Mansi

    2013-01-01

    Background: Ectodermal dysplasia (ED) is a group of rare, inherited disorders characterized by sparse hair, missing teeth and inability to sweat. Objective: To review and analyze cases of ED with an emphasis on clinical manifestations and parent's marriage history. Methodology: The present retrospective study was conducted by assessing the clinical records of nineteen cases of ED, available in the archives of the department; for age, gender, family history of consanguineous marriage and clinical manifestations. Results: It was observed that ED was more prevalent in males, with a ratio of 1.7:1. The hypohydrotic type was more common (78.95%) than hydrotic type (21.05%). The marriage history of parents revealed that 66.67% had consanguineous marriage and had 68.42% offspring's affected with ED; whereas 33.33% had history of non-consanguineous marriage and had 31.58% offspring's affected with ED. The clinical manifestations observed were- dry skin(94.74%); scaly skin(42.11%); sparse hair on scalp, eyebrows and eyelashes(100%); frontal bossing(63.18%); saddle nose (57.89%); hypertelorism (47.37%); nail abnormality(52.63%); normal sweat glands(21.05%); abnormal sweat glands(78.95%); hypoplastic maxilla(52.63%); protuberant lips (57.89%); palmo-plantar keratosis(21.05%); wrinkled & hyper pigmented facial skin(84.21%); partial anodontia(94.74%); conical shaped teeth(84.21%); high arched palate(68.42%); thin alveolar bone(100.00%); taurodontism(21.05%) and cleft lip & cleft palate(05.26%). The number of teeth present in all the cases ranged from 0 to 19. Conclusion: ED patients suffer from social problems and poor psychological and physiological development as a result of unacceptable esthetics and abnormal function of orofacial structures. Oral rehabilitation thus becomes mandatory, although it is often difficult; particularly in pediatric patients. PMID:24082749

  14. Arrhythmogenic right ventricular dysplasia: Atypical clinical presentation.

    Science.gov (United States)

    Marçalo, José; Menezes Falcão, Luiz

    2017-03-01

    A 67-year-old man was admitted to our hospital after episodes of syncope preceded by malaise and diffuse neck and chest discomfort. No family history of cardiac disease was reported. Laboratory workup was within normal limits, including D-dimers, serum troponin I and arterial blood gases. The electrocardiogram showed sinus rhythm with T-wave inversion in leads V1 to V3. Computed tomography angiography to investigate pulmonary embolism showed no abnormal findings. Transthoracic echocardiography (TTE) displayed massive enlargement of the right ventricle with intact interatrial septum and no pulmonary hypertension. Cardiac magnetic resonance imaging (MRI) confirmed right ventricular (RV) dilatation and revealed marked hypokinesia/akinesia of the lateral wall. Exercise stress testing was negative for ischemia. According to the 2010 Task Force criteria for arrhythmogenic right ventricular dysplasia (ARVD), this patient presented two major criteria (global or regional dysfunction and structural alterations: by MRI, regional RV akinesia or dyskinesia or dyssynchronous RV contraction and RV ejection fraction ≤40%, and repolarization abnormalities: inverted T waves in right precordial leads [V1, V2, and V3]); and one minor criterion (>500 ventricular extrasystoles per 24 hours by Holter), and so a diagnosis of ARVD was made. After electrophysiologic study (EPS) the patient received an implantable cardioverter-defibrillator (ICD). This late clinical presentation of ARVD highlights the importance of TTE screening, possibly complemented by MRI. The associated risk of sudden death was assessed by EPS leading to the implantation of an ICD. Genetic association studies should be offered to the offspring of all ARVD patients. Copyright © 2016 Sociedade Portuguesa de Cardiologia. Publicado por Elsevier España, S.L.U. All rights reserved.

  15. Hereditary ectodermal dysplasia: A retrospective study.

    Science.gov (United States)

    More, Chandramani B; Bhavsar, Khusbhu; Joshi, Jigar; Varma, Saurabh N; Tailor, Mansi

    2013-07-01

    Ectodermal dysplasia (ED) is a group of rare, inherited disorders characterized by sparse hair, missing teeth and inability to sweat. To review and analyze cases of ED with an emphasis on clinical manifestations and parent's marriage history. The present retrospective study was conducted by assessing the clinical records of nineteen cases of ED, available in the archives of the department; for age, gender, family history of consanguineous marriage and clinical manifestations. It was observed that ED was more prevalent in males, with a ratio of 1.7:1. The hypohydrotic type was more common (78.95%) than hydrotic type (21.05%). The marriage history of parents revealed that 66.67% had consanguineous marriage and had 68.42% offspring's affected with ED; whereas 33.33% had history of non-consanguineous marriage and had 31.58% offspring's affected with ED. The clinical manifestations observed were- dry skin(94.74%); scaly skin(42.11%); sparse hair on scalp, eyebrows and eyelashes(100%); frontal bossing(63.18%); saddle nose (57.89%); hypertelorism (47.37%); nail abnormality(52.63%); normal sweat glands(21.05%); abnormal sweat glands(78.95%); hypoplastic maxilla(52.63%); protuberant lips (57.89%); palmo-plantar keratosis(21.05%); wrinkled & hyper pigmented facial skin(84.21%); partial anodontia(94.74%); conical shaped teeth(84.21%); high arched palate(68.42%); thin alveolar bone(100.00%); taurodontism(21.05%) and cleft lip & cleft palate(05.26%). The number of teeth present in all the cases ranged from 0 to 19. ED patients suffer from social problems and poor psychological and physiological development as a result of unacceptable esthetics and abnormal function of orofacial structures. Oral rehabilitation thus becomes mandatory, although it is often difficult; particularly in pediatric patients.

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

    Energy Technology Data Exchange (ETDEWEB)

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

    2006-07-01

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

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

    International Nuclear Information System (INIS)

    Belyaeva, Z.; Grigoryeva, E.; Khokhryakov, V.

    2006-01-01

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

  18. Hip Dysplasia: Clinical Signs and Physical Examination Findings.

    Science.gov (United States)

    Syrcle, Jason

    2017-07-01

    Hip dysplasia is a common developmental disorder of the dog, consisting of varying degrees of hip laxity, progressive remodeling of the structures of the hip, and subsequent development of osteoarthritis. It is a juvenile-onset condition, with clinical signs often first evident at 4 to 12 months of age. A tentative diagnosis of hip dysplasia can be made based on signalment, history, and physical examination findings. The Ortolani test is a valuable tool for identifying juvenile dogs affected with this condition. Further diagnostics can then be prioritized, contributing to prompt diagnosis and appropriate treatment. Copyright © 2017 Elsevier Inc. All rights reserved.

  19. Ectodermal Dysplasia with Anodontia: A Report of Two Cases

    Science.gov (United States)

    Bani, Mehmet; Tezkirecioglu, Ali Melih; Akal, Nese; Tuzuner, Tamer

    2010-01-01

    Ectodermal dysplasia is a hereditary disorder that occurs as a consequence of disturbances in the ectoderm of the developing embryo. The triad of nail dystrophy, alopecia or hypotrichosis and palmoplantar hyperkeratosis is usually accompanied by a lack of sweat glands and a partial or complete absence of primary and/or permanent dentition. Two case reports illustrating the prosthetic rehabilitation of 2 young boys with anhidrotic ectodermal dysplasia associated with severe anodontia are presented. Since the oral rehabilitation of these cases is often difficult; particularly in pediatric patients, treatment should be administered by a multidisciplinary team involving pediatric dentistry, orthodontics, prosthodontics and oral-maxillofacial surgery. PMID:20396456

  20. Autosomal recessive anhidrotic ectodermal dysplasia: A rare entity

    Directory of Open Access Journals (Sweden)

    Sangita Ghosh

    2014-01-01

    Full Text Available We describe a case of anhidrotic ectodermal dysplasia (AED with an autosomal recessive mode of inheritance, a very rare entity, in a 2-year-old female child of two asymptomatic, consanguineous parents. Their previous child also had a similar condition. Autosomal recessive AED (AR-AED can have its full expression both in males and females and it is clinically indistinguishable from the x-linked recessive AED (XL-AED, which is the most common type of ectodermal dysplasia. Unlike the partially symptomatic carriers of XL-AED, the heterozygotes of AR-AED are phenotypically asymptomatic.

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

    Science.gov (United States)

    Halai, Tina; Stevens, Claire

    2015-10-01

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

  2. Radiographic signs of acetabular dysplasia of the adult hip

    Energy Technology Data Exchange (ETDEWEB)

    Lingg, G.; von Torklus, D.

    1981-06-01

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

  3. Angiographic diagnosis of fibromuscular dysplasia of the renal arteries

    Energy Technology Data Exchange (ETDEWEB)

    Petkov, B.; Grigorov, G.; Nedelkov, G. (Meditsinska Akademiya, Sofia (Bulgaria). Nauchen Inst. po Rentgenologiya i Radiobiologiya)

    1982-01-01

    In the nosological structure of renovascular hypertensions fibromuscular dysplasia of the renal arteries by incidence ranks second after atherosclerosis. The illness affects mainly women, more frequently young and having borne a child. Hypertension in such patients is usually characterized by high values of the diastolic pressure, and leads to early neurologic complaints such as headache, sight impairment, vertigo and Meniere-like syndromes. Morphological and functional changes are likewise described. Some of the literature statements concerning the etiopathogenesis and classification of fibromuscular dysplasia are critically assayed. The success of the surgical management depends on the timely established exact diagnosis, and angiography appears to be the only method of primary importance in this respect.

  4. Case report 486: Spondyloepiphyseal dysplasia tarda (SDT) (presumptively proved)

    International Nuclear Information System (INIS)

    Brown, D.D.; Childress, M.H.

    1988-01-01

    A 51 year old man with severe degenerative joint disease, short stature, barrel chest deformity, platyspondyly, a narrow pelvis, small iliac bones, dysplastic femoral heads and necks, notching of the patellae and flattening of the femoral intercondylar notches has been described as an example of Spondyloepiphyseal dysplasia tarda SDT. The entity was discussed in detail. The notching of the patellae has not been reported in association with SDT to the authors' knowledge. Characteristic features of SDT allow it to be differentiated from other arthropathies and dysplasias and these distinctions have been emphasized in the discussion. The diagnosis in this case can only be considered presumptively proved. (orig./MG)

  5. Localised form of spondylo-epiphyseal dysplasia congenita

    International Nuclear Information System (INIS)

    Hoeffel, J.C.; Mohy, R.; Collignon, P.; Moog, G.

    1988-01-01

    We report an unusual case of spondylo-epiphyseal dysplasia congenita which affected only the hips and the thoraco-lumbar spine. The epiphysis of the long bones are normal apart from the hips. Our child has a bilateral epiphyseal dysplasia of both proximal femoral epiphysis discovered incidentally at 11 months and confirmed later on at 8 years, associated with abnormalities of the superior margin of the vertebral bodies from T11 to L2. Very few similar cases have been reported anteriorly. (orig.) [de

  6. A case of Mondini dysplasia with recurrent Streptococcus pneumoniae meningitis.

    Science.gov (United States)

    Yilmaz Ciftdoğan, Dilek; Bayram, Nuri; Ozdemir, Yasemin; Bayraktaroğlu, Selen; Vardar, Fadil

    2009-12-01

    Mondini's dysplasia is a developmental anomaly of the middle ear characterized by cochlear malformation with dilation of the vestibular aquaduct, vestibule, and ampullar ends of the semicircular canals. These deformities may result in a connection between subarachnoid space and the middle ear resulting in recurrent episodes of meningitis. Additionally, it is commonly associated with hearing impairment. We describe here a boy with recurrent meningitis and unilateral sensorineural hearing loss. Mondini dysplasia was demonstrated with computed tomographic scans of the temporal bones in the search for pathogenesis of recurrent meningitis.

  7. CT features of fibrous dysplasia of the temporal bone

    International Nuclear Information System (INIS)

    Charrada-Ben Farhat, L.; Bourkhis, S.; Ben Yaacoub, I.; Dali, N.; Askri, A.; Hendaoui, L.

    2006-01-01

    Fibrous dysplasia is characterized by a progressive replacement of normal bone elements by fibrous tissue. The temporal bone is rarely involved. In this location, complications such as facial deformity, conductive hearing loss and facial peripheral neural involvement can occur. Positive diagnosis can be established with computerized tomography which also enables assessment of extension and detection of complications. We report a case of a 27-year-old man with extensive fibrous dysplasia of the right temporal bone presenting with conductive hearing loss secondary to progressive stenosis of the external auditory canal. Computerized tomography of the temporal region was performed. (authors)

  8. Dental Management of Ectodermal Dysplasia: Two Clinical Case Reports

    Directory of Open Access Journals (Sweden)

    Somayeh Hekmatfar

    2012-06-01

    Full Text Available Ectodermal dysplasia is a hereditary disorder associated with abnormal development of embryonic ectodermally-derived organs including teeth, nails, hair and sweat glands. Hypodontia of the primary and permanent dentition is the most common oral finding. Therefore, affected patients need dental prosthetic treatments during their developmental years. This report presents two cases of children affected by ectodermal dysplasia with anodontia. Oral rehabilitation was accomplished with removable acrylic prostheses. Treatment had major impacts on self-esteem, masticatory function, speech and facial esthetic.

  9. Role of arthrography in the management of dysplasia epiphysealis hemimelica

    Energy Technology Data Exchange (ETDEWEB)

    Ho, A.M.W.; Blane, C.E.; Kling, T.F. Jr.

    1986-03-01

    Dysplasia epiphysealis hemimelica can be diagnosed on plain radiographs of the affected areas. However, double contrast arthrography in three new cases provided additional information. The cartilaginous portions of the lesion at the articular surface of the bone were precisely demonstrated, aiding the orthopedic surgeon in deciding which patients should have surgery and planning the extent of operation necessary.

  10. 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.

  11. 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. © 2013 Wiley Periodicals, Inc.

  12. Multidisciplinary management of hypohydrotic ectodermal dysplasia – a case report

    Science.gov (United States)

    Joseph, Suja; Cherackal, George J; Jacob, Jose; Varghese, Alex K

    2015-01-01

    Key Clinical Message Hypohydrotic ectodermal dysplasia is a hereditary disorder, which affects ectodermal derivatives. It manifests several abnormalities of the teeth, and is commonly inherited through female carriers. This case report presents a patient with compromised esthetics and function. A multidisciplinary approach was planned involving an oral pathologist, endodontist, orthodontist and a prosthodontist. PMID:25984305

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

    International Nuclear Information System (INIS)

    Cook, J.L.; Tomlinson, J.L.; Constantinescu, G.M.

    1996-01-01

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

  14. Total hip reconstruction in acetabular dysplasia : a finite element study

    NARCIS (Netherlands)

    Schüller, H.M.; Dalstra, M.; Huiskes, H.W.J.; Marti, R.K.

    1993-01-01

    In acetabular dysplasia, fixation of the acetabular component of a cemented total hip prosthesis may be insecure and superolateral bone grafts are often used to augment the acetabular roof. We used finite element analysis to study the mechanical importance of the lateral acetabular roof and found

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

    NARCIS (Netherlands)

    Kalk, WWI; Batenburg, RHK; Vissink, A

    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

  16. Tricuspid valve dysplasia: A retrospective study of clinical features ...

    African Journals Online (AJOL)

    Dogs were most frequently referred for investigation of heart murmur. The most common arrhythmia was atrial fibrillation (n=3). Median survival time from diagnosis of tricuspid valve dysplasia was 2775 days (range 1-3696 days; 95% CI 1542.41-4007.59) and from onset of right-sided congestive heart failure was 181 days ...

  17. Autosomal dominant frontometaphyseal dysplasia : Delineation of the clinical phenotype

    NARCIS (Netherlands)

    Wade, Emma M.; Jenkins, Zandra A.; Daniel, Philip B.; Morgan, Tim; Addor, Marie C.; Ades, Lesley C.; Bertola, Debora; Bohring, Axel; Carter, Erin; Cho, Tae-Joon; de Geus, Christa M.; Duba, Hans-Christoph; Fletcher, Elaine; Hadzsiev, Kinga; Hennekam, Raoul C. M.; Kim, Chong A.; Krakow, Deborah; Morava, Eva; Neuhann, Teresa; Sillence, David; Superti-Furga, Andrea; Veenstra-Knol, Hermine E.; Wieczorek, Dagmar; Wilson, Louise C.; Markie, David M.; Robertson, Stephen P.

    Frontometaphyseal dysplasia (FMD) is caused by gain-of-function mutations in the X-linked gene FLNA in approximately 50% of patients. Recently we characterized an autosomal dominant form of FMD (AD-FMD) caused by mutations in MAP3K7, which accounts for the condition in the majority of patients who

  18. Autosomal dominant frontometaphyseal dysplasia: Delineation of the clinical phenotype

    NARCIS (Netherlands)

    Wade, Emma M.; Jenkins, Zandra A.; Daniel, Philip B.; Morgan, Tim; Addor, Marie C.; Adés, Lesley C.; Bertola, Debora; Bohring, Axel; Carter, Erin; Cho, Tae-Joon; de Geus, Christa M.; Duba, Hans-Christoph; Fletcher, Elaine; Hadzsiev, Kinga; Hennekam, Raoul C. M.; Kim, Chong A.; Krakow, Deborah; Morava, Eva; Neuhann, Teresa; Sillence, David; Superti-Furga, Andrea; Veenstra-Knol, Hermine E.; Wieczorek, Dagmar; Wilson, Louise C.; Markie, David M.; Robertson, Stephen P.

    2017-01-01

    Frontometaphyseal dysplasia (FMD) is caused by gain-of-function mutations in the X-linked gene FLNA in approximately 50% of patients. Recently we characterized an autosomal dominant form of FMD (AD-FMD) caused by mutations in MAP3K7, which accounts for the condition in the majority of patients who

  19. 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...

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

    International Nuclear Information System (INIS)

    Noeldge, G.; Billmann, P.; Boehm, N.; Freiburg Univ.

    1982-01-01

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

  1. Focal fibrocartilaginous dysplasia and tibia vara: a case report

    International Nuclear Information System (INIS)

    Cockshott, W.P.; Martin, R.; Friedman, L.; Yuen, M.

    1994-01-01

    A 2-year-old black boy with focal fibrocartilaginous dysplasia is described with illustrations of the typical radiographic appearances supplemented by computed tomographic and magnetic resonance images. Since this rare condition is self-correcting, diagnosis is important so that surgical intervention and biopsy can be avoided and conservative management instituted. (orig.)

  2. Focal fibrocartilaginous dysplasia and tibia vara: a case report.

    Science.gov (United States)

    Cockshott, W P; Martin, R; Friedman, L; Yuen, M

    1994-07-01

    A 2-year-old black boy with focal fibrocartilaginous dysplasia is described with illustrations of the typical radiographic appearances supplemented by computed tomographic and magnetic resonance images. Since this rare condition is self-correcting, diagnosis is important so that surgical intervention and biopsy can be avoided and conservative management instituted.

  3. Focal fibrocartilaginous dysplasia and tibia vara: a case report

    Energy Technology Data Exchange (ETDEWEB)

    Cockshott, W.P. (Dept. of Radiology, McMaster Univ. Medical Centre, Hamilton, ON (Canada)); Martin, R. (Dept. of Orthopedics, McMaster Univ. Medical Centre, Hamilton, ON (Canada)); Friedman, L. (Dept. of Radiology, McMaster Univ. Medical Centre, Hamilton, ON (Canada)); Yuen, M. (Dept. of Radiology, McMaster Univ. Medical Centre, Hamilton, ON (Canada))

    1994-07-01

    A 2-year-old black boy with focal fibrocartilaginous dysplasia is described with illustrations of the typical radiographic appearances supplemented by computed tomographic and magnetic resonance images. Since this rare condition is self-correcting, diagnosis is important so that surgical intervention and biopsy can be avoided and conservative management instituted. (orig.)

  4. Craniofacial and temporal bone CT findings in cleidocranial dysplasia

    International Nuclear Information System (INIS)

    Gonzalez, Guido E.; Caruso, Paul A.; Curtin, Hugh D.; Small, Juan E.; Jyung, Robert W.; Troulis, Maria J.

    2008-01-01

    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.)

  5. Placental mesenchymal dysplasia: case report with gross and histological findings.

    Science.gov (United States)

    Toscano, Marcello Pecoraro; Schultz, Regina

    2014-01-01

    Placental mesenchymal dysplasia (PMD) is a rare placental disorder characterized by placental enlargement and areas of abnormal, enlarged, grape-like villi. This condition may resemble a partial hydatidiform mole and may occur associated with Beckwith-Wiedemann syndrome (BWS) or in phenotypically normal fetuses. There were 110 cases reported so far. We describe one case with typical gross and microscopic placental lesions.

  6. Placental mesenchymal dysplasia: case report with gross and histological findings

    OpenAIRE

    Marcello Pecoraro Toscano; Regina Schultz

    2014-01-01

    Placental mesenchymal dysplasia (PMD) is a rare placental disorder characterized by placental enlargement and areas of abnormal, enlarged, grape-like villi. This condition may resemble a partial hydatidiform mole and may occur associated with Beckwith?Wiedemann syndrome (BWS) or in phenotypically normal fetuses. There were 110 cases reported so far. We describe one case with typical gross and microscopic placental lesions.

  7. Gonadal dosage during hip dysplasia radiography in the dog.

    Science.gov (United States)

    Wood, A K; Reynolds, K M; Leith, I S; Burns, P A

    1977-01-01

    Thermoluminescent dosemeters were used to estimate gonadal dosage during hip dysplasia radiography of labrador retriever dogs. The mean radiation dose to the unshielded testes was 100 millirad (mrad) and the estimated dose to the shielded testes was 9 mrad. It was considered unnecessary to shield the ovaries.

  8. Multiple Epiphyseal Dysplasia: A Clinical and Molecular Genetic Study

    NARCIS (Netherlands)

    J.B.A. van Mourik (Jan)

    1998-01-01

    textabstractMultiple epiphyseal dysplasia (MED) is one of the most common osteochondrodysplasias [Wynne-Davies and Gormley 1985]. During childhood and adolescence it affects the epiphyses of the tubular bones, resulting in axial deformities and shorter limbs.·Later in life MED can lead to

  9. Endoscopic Therapeutic Approach for Dysplasia in Inflammatory Bowel Disease

    Directory of Open Access Journals (Sweden)

    Sung Noh Hong

    2017-09-01

    Full Text Available Long-standing intestinal inflammation in patients with inflammatory bowel disease (IBD induces dysplastic change in the intestinal mucosa and increases the risk of subsequent colorectal cancer. The evolving endoscopic techniques and technologies, including dye spraying methods and high-definition images, have been replacing random biopsies and have been revealed as more practical and efficient for detection of dysplasia in IBD patients. In addition, they have potential usefulness in detailed characterization of lesions and in the assessment of endoscopic resectability. Most dysplastic lesions without an unclear margin, definite ulceration, non-lifting sign, and high index of malignant change with suspicion for lymph node or distant metastases can be removed endoscopically. However, endoscopic resection of dysplasia in chronic IBD patients is usually difficult because it is often complicated by submucosal fibrosis. In patients with dysplasias that demonstrate submucosa fibrosis or a large size (≥20 mm, endoscopic submucosal dissection (ESD or ESD with snaring (simplified or hybrid ESD is an alternative option and may avoid a colectomy. However, a standardized endoscopic therapeutic approach for dysplasia in IBD has not been established yet, and dedicated specialized endoscopists with interest in IBD are needed to fully investigate recent emerging techniques and technologies.

  10. 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

  11. Corrections of lower limb deformities in patients with diastrophic dysplasia.

    Science.gov (United States)

    Al Kaissi, Ali; Kenis, Vladimir; Melchenko, Eugeniy; Chehida, Farid Ben; Ganger, Rudolf; Klaushofer, Klaus; Grill, Franz

    2014-11-01

    Accurate understanding of the cause of the underlying pathology in children with diastrophic dysplasia would help in designing targeted management of their locomotion. Diastrophic dysplasia was diagnosed in twelve patients (nine girls and three boys; age range 1-14 years), all of whom presented with small stature and apparent short extremities. Club foot (mostly talipes equinovarus) was the most frequent and consistent abnormality. Concomitant abnormalities such as hip flexion contracture, flexion contractures of the knees with excessive valgus deformity and lateral patellar subluxation, were also encountered. Muscle ultrasound and muscle magnetic resonance imaging imaging showed no myopathic changes and muscle biopsies and the respiratory chain were normal. Serum choline kinase and plasma lactate concentrations were normal. Surgical correction of the foot and ankle in patients with diastrophic dysplasia is extremely difficult because of the markedly distorted anatomy. In all of these children, plantigrade foot was achieved along with the improved function of the locomotor system. Mutations of the diastrophic dysplasia sulfate transporter (also known as solute carrier family 26 member 2) were encountered. Arthrogryposis multiplex is the usual terminology used to describe the abnormality in infants with multiple contractures. Diligent orthopaedic care should be provided based on an accurate understanding of the associated syndromes in such children. © 2014 Chinese Orthopaedic Association and Wiley Publishing Asia Pty Ltd.

  12. Avascular necrosis of the hip in multiple epiphyseal dysplasia

    International Nuclear Information System (INIS)

    Mackenzie, W.G.; Bassett, G.S.; Mandell, G.A.; Scott, C.I. Jr.

    1989-01-01

    We observed radiographic changes of avascular necrosis (AVN) of the capital femoral epiphysis in 9 hips of 11 patients with multiple epiphyseal dysplasia (MED). Plain roentgenography, bone scintigraphy, and magnetic resonance imaging (MRI) studies all revealed characteristic asymmetric changes in the presence of AVN superimposed on dysplastic femoral heads

  13. Canine hip dysplasia: significance of early bony spurring

    International Nuclear Information System (INIS)

    Morgan, J.P.

    1987-01-01

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

  14. Concomitant occurrence of cochleosaccular dysplasia and Down's syndrome.

    Science.gov (United States)

    Walby, A P; Schuknecht, H F

    1984-07-01

    Inherited cochleosaccular dysplasia occurred in a woman coincidentally with Down's syndrome. Study of the right temporal bone revealed abnormalities of the cochlea and saccule consistent with Scheibe 's original description. There was also a short cochlea and small lateral semicircular canal consistent with previous descriptions of Down's syndrome.

  15. Combined Allergic Bronchopulmonary Aspergillosis and Eosinophilic Granulomatosis with Polyangiitis: Three Cases and a Review of the Literature.

    Science.gov (United States)

    Ishiguro, Takashi; Takayanagi, Noboru; Takaku, Yotaro; Kagiyama, Naho; Kurashima, Kazuyoshi; Sugita, Yutaka

    2016-01-01

    Previous reports of combined allergic bronchopulmonary mycosis (ABPM) and eosinophilic granulomatosis with polyangiitis (EGPA) are limited; however, among 41 cases of ABPM and 18 cases of EGPA treated at our hospital, we experienced three cases of combined ABPM and EGPA. In two of these cases, the diagnosis of EGPA preceded that of ABPM, however, one of the two cases had already shown findings suggestive of ABPM, such as mucous plugs and central bronchiectasis, at the time of the diagnosis of EGPA. In six previously reported cases of combined ABPM and EGPA, ABPM preceded EGPA in four cases. In the other two cases in which EGPA was diagnosed before or simultaneously with ABPM, findings suggestive of ABPM had been detected when EGPA was diagnosed, which suggests that sensitization to fungi resulting in ABPM may play an important role in the development of EGPA. Careful attention should therefore be paid to the possibility that these diseases may coexist during the course of either disease.

  16. Bronchopulmonary lavage and DTPA treatment for the removal of inhaled 239Pu of varied solubility in beagle dogs. II

    International Nuclear Information System (INIS)

    Muggenburg, B.A.; Mewhinney, J.A.; Miglio, J.J.; Slauson, D.O.; McClellan, R.O.

    1974-01-01

    The efficacy of bronchopulmonary lavage and chelation therapy was determined for removing 239 Pu from Beagle dogs after inhalation of 239 Pu aerosols of differing in vivo solubility. The four aerosols used were nebulized from a solution of 239 PuCl 4 and heat treated at temperatures of 325, 600, 900, and 1150 0 C, respectively. Six dogs were exposed to each of the four aerosols and three dogs in each group were treated subsequently by lavage and intravenous diethylenetriaminepentaacetic acid (DTPA); three dogs served as untreated controls. Tissue accumulation of 239 Pu in the untreated control dogs at sacrifice 56 days post-exposure, expressed as a percentage of the initial lung burden (ILB), was 6 percent in liver and 9 percent in skeleton for the 325 0 C aerosol group, 1 percent in liver and 2 percent in the skeleton for the 600 0 C group, and less than 0.6 percent in these tissues for the 900 0 and 1150 0 C aerosol groups. Tissue accumulation was 1.0 percent or less of the ILB for all organs in the treated groups of dogs. The urinary excretion of 239 Pu was increased in the treated dogs compared to the control dogs that inhaled the 325 0 C and 600 0 C aerosols and was low in all dogs exposed to the 900 0 and 1150 0 C treated aerosol particles. Ten bronchopulmonary lavage procedures removed a mean of 44 percent of the ILB of 239 Pu from the lungs. The aerosol temperature and resulting differences in solubility of the particles did not influence the efficacy of the lavage procedure. An in vitro solubility test predicted the relative in vivo solubility of the four aerosols. These results are discussed in relation to the choice of therapy and its timing. (U.S.)

  17. Sessile serrated adenomas with dysplasia: morphological patterns and correlations with MLH1 immunohistochemistry.

    Science.gov (United States)

    Liu, Cheng; Walker, Neal I; Leggett, Barbara A; Whitehall, Vicki Lj; Bettington, Mark L; Rosty, Christophe

    2017-12-01

    Sessile serrated adenomas are the precursor polyp of approximately 20% of colorectal carcinomas. Sessile serrated adenomas with dysplasia are rarely encountered and represent an intermediate step to malignant progression, frequently associated with loss of MLH1 expression. Accurate diagnosis of these lesions is important to facilitate appropriate surveillance, particularly because progression from dysplasia to carcinoma can be rapid. The current World Health Organization classification describes two main patterns of dysplasia occurring in sessile serrated adenomas, namely, serrated and conventional. However, this may not adequately reflect the spectrum of changes seen by pathologists in routine practice. Furthermore, subtle patterns of dysplasia that are nevertheless associated with loss of MLH1 expression are not encompassed in this classification. We performed a morphological analysis of 266 sessile serrated adenomas with dysplasia with concurrent MLH1 immunohistochemistry with the aims of better defining the spectrum of dysplasia occurring in these lesions and correlating dysplasia patterns with MLH1 expression. We found that dysplasia can be divided morphologically into four major patterns, comprising minimal deviation (19%), serrated (12%), adenomatous (8%) and not otherwise specified (79%) groups. Minimal deviation dysplasia is defined by minor architectural and cytological changes that typically requires loss of MLH1 immunohistochemical expression to support the diagnosis. Serrated dysplasia and adenomatous dysplasia have distinctive histological features and are less frequently associated with loss of MLH1 expression (13 and 5%, respectively). Finally, dysplasia not otherwise specified encompasses most cases and shows a diverse range of morphological changes that do not fall into the other subgroups and are frequently associated with loss of MLH1 expression (83%). This morphological classification of sessile serrated adenomas with dysplasia may represent an

  18. Fibrous dysplasia with cartilaginous differentiation (''fibrocartilaginous dysplasia''): a review, with an illustrative case followed for 18 years

    Energy Technology Data Exchange (ETDEWEB)

    Kyriakos, Michael [Division of Surgical Pathology, Washington University School of Medicine, St. Louis, Missouri (United States); Department of Pathology, Washington University School of Medicine, 660 S. Euclid Avenue, Campus Box 8118, MO 63110, St. Louis (United States); McDonald, Douglas J. [Department of Orthopaedic Surgery, Washington University School of Medicine, St. Louis, Missouri (United States); Sundaram, Murali [Department of Radiology, The Mayo Clinic, Rochester, Minnesota (United States)

    2004-01-01

    A 21-year-old man with an 18-year history of progressive, and deforming, monomelic fibrous dysplasia with massive cartilaginous differentiation (fibrocartilaginous dysplasia) is described. A review is made of all prior reported examples of this entity in the English language medical literature. The radiologic and histologic differential diagnoses are described, distinguishing the lesion from chondrosarcoma and from fibrocartilaginous mesenchymoma. (orig.)

  19. Hypohidrotic Ectodermal Dysplasia: Breastfeeding Complications Due to Impaired Breast Development.

    Science.gov (United States)

    Wahlbuhl-Becker, Mandy; Faschingbauer, Florian; Beckmann, Matthias W; Schneider, Holm

    2017-04-01

    Background X-linked hypohidrotic ectodermal dysplasia (XLHED), the most common form of ectodermal dysplasia, is caused by mutations in the gene EDA. While only affected men develop the full-blown clinical picture, females who are heterozygous for an EDA mutation often also show symptoms such as hypodontia, hypotrichosis and hypohidrosis. These women may also suffer from malformations of the mammary gland which represent not just a cosmetic problem but can limit their breastfeeding capability. This paper summarizes the findings of the first systematic study on the impact of hypohidrotic ectodermal dysplasia on breastfeeding. Patients Thirty-eight adult female members of the German-Swiss-Austrian ectodermal dysplasia patient support group participated in a structured interview; most of them also agreed to a photodocumentation of their mammary region. Thirty-one women carried mutations in EDA (Group A) and seven were affected by other forms of hypohidrotic ectodermal dysplasia (Group B). Results 39 % of the women of Group A reported that their breasts were of different size or entirely absent on one side. In Group B, 86 % of the women reported differently sized or even absent breasts; two of these women lacked both breasts entirely. Most women described their nipples as exceptionally flat. 10 % of the women of Group A had more than two nipples. The high percentage of deviations from the norm was confirmed in the photodocumentation. Both groups had few or no sebaceous glands of Montgomery in the areolar region. Around 80 % of interviewed women had children and had attempted to breastfeed their first child. 67 % of the mothers in Group A had had difficulty in breastfeeding their infants and generally attributed this difficulty to their flat nipples. All of the mothers in Group B reported difficulties in breastfeeding; 60 % had not been able to breastfeed their first child. Conclusion Mothers with hypohidrotic ectodermal dysplasia very often have difficulty

  20. Curved planar reconstruction of MR images in focal cortical dysplasia of the brain

    International Nuclear Information System (INIS)

    Chung, Gyung Ho; Lee, Sang Yong; Kim, Chong So; Kim, Young Kon; Lee, Young Hwan; Jeong, Su Hyun

    2002-01-01

    To describe curved planar reconstruction imaging (CPR) and determine its usefulness in the evaluation of focal cortical dysplasia of the brain. In 17 cases of focal cortical dysplasia (cortical dysplasia (n=9), schizencephaly (n=5), and heterotopia (n=3), CPR images were created using a multiplanar reconstruction program and imaging data obtained during T1 magnetization prepared rapid acquisition gradient-echo MR imaging. We assessed the precise configuration of abnormalities and their relation to adjacent gyri and sulci. CPRI showed the brain cortex as a 2D panoramic image, demonstrating the precise configurations and locations of dysplasia-associated abnormalities and their relation to adjacent gyri and sulci, and the precise shape of the gray-white matter interface. CPRI can provide important radiological information about the extension and configuration of focal cortical dysplasia, and its relation to neighboring cortical structures. We believe that CPRI should form an essential part of the routine investigation os suspected cases of focal cortical dysplasia

  1. Squamous cell dysplasia and carcinoma of the conjunctiva

    DEFF Research Database (Denmark)

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

    2015-01-01

    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......%) 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......: 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...

  2. Familial cleidocranial dysplasia misdiagnosed as rickets over three generations.

    Science.gov (United States)

    Franceschi, Roberto; Maines, Evelina; Fedrizzi, Michela; Piemontese, Maria Rosaria; De Bonis, Patrizia; Agarwal, Nivedita; Bellizzi, Maria; Di Palma, Annunziata

    2015-10-01

    Cleidocranial dysplasia (CCD) is a rare autosomal dominant skeletal dysplasia characterized by hypoplastic clavicles, late closure of the fontanels, dental problems and other skeletal features. CCD is caused by mutations, deletions or duplications in runt-related transcription factor 2 (RUNX2), which encodes for a protein essential for osteoblast differentiation and chondrocyte maturation. We describe three familial cases of CCD, misdiagnosed as rickets over three generations. No mutations were detected on standard DNA sequencing of RUNX2, but a novel deletion was identified on quantitative polymerase chain reaction (qPCR) and multiple ligation-dependent probe amplification (MLPA). The present cases indicate that CCD could be misdiagnosed as rickets, leading to inappropriate treatment, and confirm that mutations in RUNX2 are not able to be identified on standard DNA sequencing in all CCD patients, but can be identified on qPCR and MLPA. © 2015 Japan Pediatric Society.

  3. Angiographic diagnosis of fibromuscular dysplasia of the renal arteries

    International Nuclear Information System (INIS)

    Petkov, B.; Grigorov, G.; Nedelkov, G.

    1982-01-01

    In the nosological structure of renovascular hypertensions fibromuscular dysplasia of the renal arteries by incidence ranks second after atherosclerosis. The illness affects mainly women, more frequently young and having borne a child. Hypertension in such patients is usually characterized by high values of the diastolic pressure, and leads to early neurologic complaints such as headache, sight impairment, vertigo and Meniere-like syndromes. Morphological and functional changes are likewise described. Some of the literature statements concerning the etiopathogenesis and classification of fibromuscular dysplasia are critically assayed. The success of the surgical management depends on the timely established exact diagnosis, and angiography appears to be the only method of primary importance in this respect. (author)

  4. Recurrent Bacterial Meningitis in a Child with Mondini Dysplasia

    Directory of Open Access Journals (Sweden)

    Eda Kepenekli-Kadayifci

    2014-01-01

    Full Text Available Mondini dysplasia, also known as Mondini malformation, is a developmental abnormality of the inner and middle ears that can cause hearing loss, cerebrospinal fluid (CSF leakage, and recurrent bacterial meningitis (RBM, which is defined as two or more episodes of meningitis separated by a period of convalescence and the complete resolution of all signs and symptoms. An accurate diagnosis of the underlying pathology is crucial to prevent further episodes from occurring. Herein, we present a three-year-old boy with RBM and unilateral sensorineural hearing loss. During the evaluation to determine the etiology of the RBM, cystic malformation in the cochlea and vestibular dilatation consistent with Mondini dysplasia were detected via computerized tomography (CT of the temporal bone.

  5. Recurrent bacterial meningitis in a child with mondini dysplasia.

    Science.gov (United States)

    Kepenekli-Kadayifci, Eda; Karaaslan, Ayşe; Atıcı, Serkan; Binnetoğlu, Adem; Sarı, Murat; Soysal, Ahmet; Altınkanat, Gülşen; Bakır, Mustafa

    2014-01-01

    Mondini dysplasia, also known as Mondini malformation, is a developmental abnormality of the inner and middle ears that can cause hearing loss, cerebrospinal fluid (CSF) leakage, and recurrent bacterial meningitis (RBM), which is defined as two or more episodes of meningitis separated by a period of convalescence and the complete resolution of all signs and symptoms. An accurate diagnosis of the underlying pathology is crucial to prevent further episodes from occurring. Herein, we present a three-year-old boy with RBM and unilateral sensorineural hearing loss. During the evaluation to determine the etiology of the RBM, cystic malformation in the cochlea and vestibular dilatation consistent with Mondini dysplasia were detected via computerized tomography (CT) of the temporal bone.

  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. Uterus Dysplasia Associated with Cervico-Vaginal Agenesis

    Directory of Open Access Journals (Sweden)

    Ali Mahdavi

    2017-10-01

    Full Text Available Müllerian ducts can form upper parts of normal female reproductive system and any failure in ductal fusion may result in to müllerian duct anomalies (MDA. We present a case of MDA and a uterus dysplasia with no evidence of cervical or upper vaginal tissue. This case showes the role of magnetic resonace imaging (MRI on MDA diagnosis and urges the need for a unified reliable and practical classification more compatible with clinical practice.

  8. Further delineation of the odonto-onycho-dermal dysplasia syndrome.

    Science.gov (United States)

    Mégarbané, Hala; Haddad, May; Delague, Valérie; Renoux, Julien; Boehm, Nelly; Mégarbané, André

    2004-08-30

    We report on three boys, two brothers and their maternal cousin, presenting with dry hair, pilar keratosis, severe hypodontia, smooth tongue, onychodysplasia, and keratoderma and hyperhidrosis of palms and soles. Histology of the skin showed orthokeratotic, hyperkeratosis, hypergranulosis, and mild acanthosis in the epidermis. Scanning electron microscopic examination of the hair showed longitudinal depressions in some hair. These features are close to a rare entity: the odonto-onycho-dermal dysplasia but with some differing features. Copyright 2004 Wiley-Liss, Inc.

  9. Congenital dislocation of knee with ipsilateral developmental dysplasia of hip

    Directory of Open Access Journals (Sweden)

    Sameer Kakar

    2017-01-01

    Full Text Available We present a rare case of a newborn having congenital knee dislocation (CDK with ipsilateral developmental dysplasia of hip (DDH. This case report shows how abnormal intrauterine pressure leads to dislocation of various joints in utero. We managed this conservatively with Pavlik Harness for DDH and serial corrective casting with manipulation for CDK with a satisfactory result after follow-up of 6 months.

  10. Florid cemento osseous dysplasia in association with dentigerous cyst.

    Science.gov (United States)

    Sanjai, Karpagaselvi; Kumarswamy, Jayalakshmi; Kumar, Vinod K; Patil, Archana

    2010-07-01

    We present a case of florid cemento-osseous dysplasia occurring in a 20-year-old Indian woman. The subject presented with three lesions involving the maxillary right quadrant, maxillary left quadrant and mandibular left quadrant. The mandibular left quadrant also demonstrated a cyst.The diagnosis was made by correlating the clinical presentation with that of the radiological and histopathological findings. This is a rare entity because of an unusual combination of Asian race along with the association of dentigerous cyst.

  11. Telescopic overdenture for oral rehabilitation of ectodermal dysplasia patient

    OpenAIRE

    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 treat...

  12. Concomitant achondroplasia and developmental dysplasia of the hip

    OpenAIRE

    Malcolm, Tennison L.; Phan, Duy L.; Schwarzkopf, Ran

    2015-01-01

    Achondroplasia (ACH) is the most common form of hereditary dwarfism and presents with multiple musculoskeletal anomalies but is not normally associated with premature hip arthritis. Developmental dysplasia of the hip (DDH) is a spectrum of disease resulting in shallow acetabular depth and a propensity for chronic femoral subluxation or dislocation; it is among the most common causes of premature arthritis. This case report describes the diagnosis of symptomatic DDH in a patient with ACH and h...

  13. HPV prevalence and HPV-related dysplasia in elderly women.

    Directory of Open Access Journals (Sweden)

    Ruth S Hermansson

    Full Text Available In Sweden, where screening ends at the age of 60, about 30% of the cervical cancer cases occur in women older than 60. The aim of the present study was to investigate the prevalence of HPV and cervical dysplasia in women of 60 years and above.From September 2013 until June 2015, 1051 women aged 60-89 years (mean 68 years were sampled for an HPV test when attending an outpatient gynecology clinic. Women with positive results had a second HPV test and liquid based cytology (LBC, after 3.5 months on average. Those with a positive second HPV test were examined by colposcopy, and biopsy and a sample for LBC was obtained.The prevalence of HPV was 4.1%, (95%CI 3.0-5.5, n = 43 at the first test, and at the second test 2.6% remained positive (95%CI 1.7-3.8, n = 27. The majority of women positive in both HPV tests, had dysplasia in histology, 81.5% (22/27 (4 CIN 2-0.4%, 18 CIN 1-1.7%. HPV-related dysplasia was found in 2.1%, (95%CI 1.3-3.2, n = 22 of the 1051 women. Four of the 22 women with positive HPV tests also had abnormal cytology, one ASCUS and three CIN 1. No cancer or glandular dysplasia was detected.A significant proportion of elderly women were found to have a persistent cervical HPV infection. Among them there was a high prevalence of CIN diagnosed by histology. The HPV test showed high sensitivity and specificity in detecting CIN in elderly women, while cytology showed extremely low sensitivity.

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

    Energy Technology Data Exchange (ETDEWEB)

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

    1984-07-01

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

  15. The extracellular matrix and altered diffusion in focal cortical dysplasia

    Czech Academy of Sciences Publication Activity Database

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

    2011-01-01

    Roč. 59, S1 (2011), S106-S106 ISSN 0894-1491. [European meeting on Glia l Cells in Health and Disease /10./. 13.09.2011-17.09.2011, Prague] R&D Projects: GA MŠk 1M0538; GA ČR GA309/09/1597 Institutional research plan: CEZ:AV0Z50390703 Keywords : focal cortical dysplasia * diffusion * extracellular matrix Subject RIV: FH - Neurology

  16. Recurrent Bacterial Meningitis in a Child with Mondini Dysplasia

    OpenAIRE

    Kepenekli-Kadayifci, Eda; Karaaslan, Ayşe; Atıcı, Serkan; Binnetoğlu, Adem; Sarı, Murat; Soysal, Ahmet; Altınkanat, Gülşen; Bakır, Mustafa

    2014-01-01

    Mondini dysplasia, also known as Mondini malformation, is a developmental abnormality of the inner and middle ears that can cause hearing loss, cerebrospinal fluid (CSF) leakage, and recurrent bacterial meningitis (RBM), which is defined as two or more episodes of meningitis separated by a period of convalescence and the complete resolution of all signs and symptoms. An accurate diagnosis of the underlying pathology is crucial to prevent further episodes from occurring. Herein, we present a...

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

    Directory of Open Access Journals (Sweden)

    Vishnu Priya

    2013-01-01

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

  18. Placental mesenchymal dysplasia: case report with gross and histological findings

    Directory of Open Access Journals (Sweden)

    Marcello Pecoraro Toscano

    2014-12-01

    Full Text Available Placental mesenchymal dysplasia (PMD is a rare placental disorder characterized by placental enlargement and areas of abnormal, enlarged, grape-like villi. This condition may resemble a partial hydatidiform mole and may occur associated with Beckwith–Wiedemann syndrome (BWS or in phenotypically normal fetuses. There were 110 cases reported so far. We describe one case with typical gross and microscopic placental lesions.

  19. Primary cellular meningeal defects cause neocortical dysplasia and dyslamination

    Science.gov (United States)

    Hecht, Jonathan H.; Siegenthaler, Julie A.; Patterson, Katelin P.; Pleasure, Samuel J.

    2010-01-01

    Objective Cortical malformations are important causes of neurological morbidity, but in many cases their etiology is poorly understood. Mice with Foxc1 mutations have cellular defects in meningeal development. We use hypomorphic and null alleles of Foxc1 to study the effect of meningeal defects on neocortical organization. Methods Embryos with loss of Foxc1 activity were generated using the hypomorphic Foxc1hith allele and the null Foxc1lacZ allele. Immunohistologic analysis was used to assess cerebral basement membrane integrity, marginal zone heterotopia formation, neuronal overmigration, meningeal defects, and changes in basement membrane composition. Dysplasia severity was quantified using two measures. Results Cortical dysplasia resembling cobblestone cortex, with basement membrane breakdown and lamination defects, is seen in Foxc1 mutants. As Foxc1 activity was reduced, abnormalities in basement membrane integrity, heterotopia formation, neuronal overmigration, and meningeal development appeared earlier in gestation and were more severe. Surprisingly, the basement membrane appeared intact at early stages of development in the face of severe deficits in meningeal development. Prominent defects in basement membrane integrity appeared as development proceeded. Molecular analysis of basement membrane laminin subunits demonstrated that loss of the meninges led to changes in basement membrane composition. Interpretation Cortical dysplasia can be caused by cellular defects in the meninges. The meninges are not required for basement membrane establishment but are needed for remodeling as the brain expands. Specific changes in basement membrane composition may contribute to subsequent breakdown. Our study raises the possibility that primary meningeal defects may cortical dysplasia in some cases. PMID:20976766

  20. 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.)