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Sample records for alveolar capillary dysplasia

  1. Primary alveolar capillary dysplasia (acinar dysplasia) and surfactant protein B deficiency: a clinical, radiological and pathological study

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    Hugosson, Claes O.; Khoumais, Nuha [King Faisal Specialist Hospital and Research Centre, Department of Radiology MBC 28, Riyadh (Saudi Arabia); Salama, Husam M.; Kattan, Abdul H. [King Faisal Specialist Hospital and Research Centre, Department of Paediatrics, Riyadh (Saudi Arabia); Al-Dayel, Fouad [King Faisal Specialist Hospital and Research Centre, Department of Pathology, Riyadh (Saudi Arabia)

    2005-03-01

    Full-term infants with severe and prolonged respiratory distress represent a diagnostic challenge. Plain radiographic findings may be nonspecific or similar to classic surfactant deficiency disease for infants with surfactant protein B deficiency and acinar dysplasia. Objectives: To describe the similar clinical-radiolgical patterns of two rare neonatal conditions. Six newborn babies with severe respiratory distress at birth demonstrated clinical and radiographically prolonged and progressive diffuse pulmonary opacification. All infants demonstrated hyperinflation of the lungs. The diffuse hazy opacification, which varied from mild (n=3) to moderate (n=3), progressed to severe diffuse opacification preceding death, which occurred at 12-36 days of life. Open lung biopsy confirmed the diagnosis of primary alveolar acinar dysplasia (AD) in four infants and surfactant protein B deficiency (SPBD) in two infants. In full-term babies with unexplained progressive respiratory distress from birth and progress of radiological changes, both AD and SPBD should be considered. (orig.)

  2. Primary alveolar capillary dysplasia (acinar dysplasia) and surfactant protein B deficiency: a clinical, radiological and pathological study

    International Nuclear Information System (INIS)

    Full-term infants with severe and prolonged respiratory distress represent a diagnostic challenge. Plain radiographic findings may be nonspecific or similar to classic surfactant deficiency disease for infants with surfactant protein B deficiency and acinar dysplasia. Objectives: To describe the similar clinical-radiological patterns of two rare neonatal conditions. Six newborn babies with severe respiratory distress at birth demonstrated clinical and radiographically prolonged and progressive diffuse pulmonary opacification. All infants demonstrated hyperinflation of the lungs. The diffuse hazy opacification, which varied from mild (n=3) to moderate (n=3), progressed to severe diffuse opacification preceding death, which occurred at 12-36 days of life. Open lung biopsy confirmed the diagnosis of primary alveolar acinar dysplasia (AD) in four infants and surfactant protein B deficiency (SPBD) in two infants. In full-term babies with unexplained progressive respiratory distress from birth and progress of radiological changes, both AD and SPBD should be considered. (orig.)

  3. Novel FOXF1 mutations in sporadic and familial cases of Alveolar Capillary Dysplasia with Misaligned Pulmonary Veins imply a role for its DNA binding domain

    OpenAIRE

    Sen, Partha; Yang, Yaping; Navarro, Colby; Silva, Iris; Szafranski, Przemyslaw; Kolodziejska, Katarzyna E; Dharmadhikari, Avinash V; Mostafa, Hasnaa; Kozakewich, Harry; Kearney, Debra; Cahill, John B.; Whitt, Merrissa; Bilic, Masha; Margraf, Linda; Charles, Adrian

    2013-01-01

    Alveolar capillary dysplasia with misalignment of pulmonary veins (ACD/MPV) is a rare and lethal developmental disorder of the lung defined by a constellation of characteristic histopathological features. Non-pulmonary anomalies involving organs of gastrointestinal, cardiovascular, and genitourinary systems have been identified in approximately 80% of patients with ACD/MPV. We have collected DNA and pathological samples from more than 90 infants with ACD/MPV and their family members. Since th...

  4. Novel FOXF1 mutations in sporadic and familial cases of alveolar capillary dysplasia with misaligned pulmonary veins imply a role for its DNA binding domain

    OpenAIRE

    Sen, Partha; Yang, Yaping; Navarro, Colby; Silva, Iris; Szafranski, Przemyslaw; Kolodziejska, Katarzyna E; Dharmadhikari, Avinash V; Mostafa, Hasnaa; Kozakewich, Harry; Kearney, Debra; Cahill, John B.; Whitt, Merrissa; Bilic, Masha; Margraf, Linda; Charles, Adrian

    2013-01-01

    Alveolar capillary dysplasia with misalignment of pulmonary veins (ACD/MPV) is a rare and lethal developmental disorder of the lung defined by a constellation of characteristic histopathological features. Nonpulmonary anomalies involving organs of gastrointestinal, cardiovascular, and genitourinary systems have been identified in approximately 80% of patients with ACD/MPV. We have collected DNA and pathological samples from more than 90 infants with ACD/MPV and their family members. Since the...

  5. Novel FOXF1 mutations in sporadic and familial cases of alveolar capillary dysplasia with misaligned pulmonary veins imply a role for its DNA binding domain.

    Science.gov (United States)

    Sen, Partha; Yang, Yaping; Navarro, Colby; Silva, Iris; Szafranski, Przemyslaw; Kolodziejska, Katarzyna E; Dharmadhikari, Avinash V; Mostafa, Hasnaa; Kozakewich, Harry; Kearney, Debra; Cahill, John B; Whitt, Merrissa; Bilic, Masha; Margraf, Linda; Charles, Adrian; Goldblatt, Jack; Gibson, Kathleen; Lantz, Patrick E; Garvin, A Julian; Petty, John; Kiblawi, Zeina; Zuppan, Craig; McConkie-Rosell, Allyn; McDonald, Marie T; Peterson-Carmichael, Stacey L; Gaede, Jane T; Shivanna, Binoy; Schady, Deborah; Friedlich, Philippe S; Hays, Stephen R; Palafoll, Irene Valenzuela; Siebers-Renelt, Ulrike; Bohring, Axel; Finn, Laura S; Siebert, Joseph R; Galambos, Csaba; Nguyen, Lananh; Riley, Melissa; Chassaing, Nicolas; Vigouroux, Adeline; Rocha, Gustavo; Fernandes, Susana; Brumbaugh, Jane; Roberts, Kari; Ho-Ming, Luk; Lo, Ivan F M; Lam, Stephen; Gerychova, Romana; Jezova, Marta; Valaskova, Iveta; Fellmann, Florence; Afshar, Katayoun; Giannoni, Eric; Muhlethaler, Vincent; Liang, Jinlong; Beckmann, Jacques S; Lioy, Janet; Deshmukh, Hitesh; Srinivasan, Lakshmi; Swarr, Daniel T; Sloman, Melissa; Shaw-Smith, Charles; van Loon, Rosa Laura; Hagman, Cecilia; Sznajer, Yves; Barrea, Catherine; Galant, Christine; Detaille, Thierry; Wambach, Jennifer A; Cole, F Sessions; Hamvas, Aaron; Prince, Lawrence S; Diderich, Karin E M; Brooks, Alice S; Verdijk, Robert M; Ravindranathan, Hari; Sugo, Ella; Mowat, David; Baker, Michael L; Langston, Claire; Welty, Stephen; Stankiewicz, Pawel

    2013-06-01

    Alveolar capillary dysplasia with misalignment of pulmonary veins (ACD/MPV) is a rare and lethal developmental disorder of the lung defined by a constellation of characteristic histopathological features. Nonpulmonary anomalies involving organs of gastrointestinal, cardiovascular, and genitourinary systems have been identified in approximately 80% of patients with ACD/MPV. We have collected DNA and pathological samples from more than 90 infants with ACD/MPV and their family members. Since the publication of our initial report of four point mutations and 10 deletions, we have identified an additional 38 novel nonsynonymous mutations of FOXF1 (nine nonsense, seven frameshift, one inframe deletion, 20 missense, and one no stop). This report represents an up to date list of all known FOXF1 mutations to the best of our knowledge. Majority of the cases are sporadic. We report four familial cases of which three show maternal inheritance, consistent with paternal imprinting of the gene. Twenty five mutations (60%) are located within the putative DNA-binding domain, indicating its plausible role in FOXF1 function. Five mutations map to the second exon. We identified two additional genic and eight genomic deletions upstream to FOXF1. These results corroborate and extend our previous observations and further establish involvement of FOXF1 in ACD/MPV and lung organogenesis. PMID:23505205

  6. Displasia alveolar congénita Congenital alveolar dysplasia

    OpenAIRE

    D.P. Sánchez Hernández; M.M. Suárez Galvis; M.T. García Vélez; A. Uribe Molina

    2012-01-01

    La displasia alveolar congénita es una patología congénita poco frecuente caracterizada por disminución de las unidades alveolares y anormalidades del desarrollo de la vasculatura pulmonar. Esta entidad produce hipertensión pulmonar severa e hipoxemia persistente con una evolución mortal en la mayoría de los casos. Afecta generalmente a recién nacidos a término, con un test de Apgar normal, que posteriormente desarrollan dificultad respiratoria, habitualmente en el primer día de vida. La enfe...

  7. Pulmonary Surfactant Surface Tension Influences Alveolar Capillary Shape and Oxygenation

    OpenAIRE

    Ikegami, Machiko; Weaver, Timothy E.; Grant, Shawn N.; Whitsett, Jeffrey A.

    2009-01-01

    Alveolar capillaries are located in close proximity to the alveolar epithelium and beneath the surfactant film. We hypothesized that the shape of alveolar capillaries and accompanying oxygenation are influenced by surfactant surface tension in the alveolus. To prove our hypothesis, surfactant surface tension was regulated by conditional expression of surfactant protein (SP)-B in Sftpb−/− mice, thereby inhibiting surface tension–lowering properties of surfactant in vivo within 24 hours after d...

  8. Integrity of the alveolar-capillary barrier and alveolar surfactant system in smokers.

    OpenAIRE

    Schmekel, B; Bos, J.A.; A. R. Khan; Wohlfart, B; Lachmann, B.; Wollmer, P.

    1992-01-01

    BACKGROUND: The permeability of the alveolar-capillary barrier to technetium-99m labelled diethylenetriamine pentaacetate (99mTc DTPA) is known to be greatly increased in smokers, but the underlying mechanism is poorly understood. Abnormal permeability of the alveolar epithelium as well as impaired surfactant function has been suggested. The purpose of this study was to examine transudation of urea and albumin into the alveoli and alveolar surfactant function in smokers and non-smokers and to...

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

    Science.gov (United States)

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

    2016-04-01

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

  10. The Effects of Alcohol Abuse on Pulmonary Alveolar-Capillary Barrier Function in Humans

    OpenAIRE

    Burnham, Ellen L.; Halkar, Raghuveer; Burks, Marsha; Moss, Marc

    2008-01-01

    Aims: Alcohol abuse is associated with the development of the acute respiratory distress syndrome, a disorder characterized by abnormal alveolar-capillary permeability. We hypothesized that individuals with a history of alcohol abuse would have clinical evidence of abnormal alveolar-capillary permeability even in the absence of symptoms. This could contribute to their propensity for the development of this disorder. Methods: Thirty-three subjects with a history of alcohol abuse, but no other ...

  11. Estimation of the number of alveolar capillaries by the Euler number (Euler-Poincaré characteristic).

    Science.gov (United States)

    Willführ, Alper; Brandenberger, Christina; Piatkowski, Tanja; Grothausmann, Roman; Nyengaard, Jens Randel; Ochs, Matthias; Mühlfeld, Christian

    2015-12-01

    The lung parenchyma provides a maximal surface area of blood-containing capillaries that are in close contact with a large surface area of the air-containing alveoli. Volume and surface area of capillaries are the classic stereological parameters to characterize the alveolar capillary network (ACN) and have provided essential structure-function information of the lung. When loss (rarefaction) or gain (angiogenesis) of capillaries occurs, these parameters may not be sufficient to provide mechanistic insight. Therefore, it would be desirable to estimate the number of capillaries, as it contains more distinct and mechanistically oriented information. Here, we present a new stereological method to estimate the number of capillary loops in the ACN. One advantage of this method is that it is independent of the shape, size, or distribution of the capillaries. We used consecutive, 1 μm-thick sections from epoxy resin-embedded material as a physical disector. The Euler-Poincaré characteristic of capillary networks can be estimated by counting the easily recognizable topological constellations of "islands," "bridges," and "holes." The total number of capillary loops in the ACN can then be calculated from the Euler-Poincaré characteristic. With the use of the established estimator of alveolar number, it is possible to obtain the mean number of capillary loops per alveolus. In conclusion, estimation of alveolar capillaries by design-based stereology is an efficient and unbiased method to characterize the ACN and may be particularly useful for studies on emphysema, pulmonary hypertension, or lung development. PMID:26432874

  12. Loss of alveolar membrane diffusing capacity and pulmonary capillary blood volume in pulmonary arterial hypertension

    OpenAIRE

    Farha Samar; Laskowski Daniel; George Deepa; Park Margaret M; Tang WH Wilson; Dweik Raed A; Erzurum Serpil C

    2013-01-01

    Abstract Background Reduced gas transfer in patients with pulmonary arterial hypertension (PAH) is traditionally attributed to remodeling and progressive loss of pulmonary arterial vasculature that results in decreased capillary blood volume available for gas exchange. Methods We tested this hypothesis by determination of lung diffusing capacity (DL) and its components, the alveolar capillary membrane diffusing capacity (Dm) and lung capillary blood volume (Vc) in 28 individuals with PAH in c...

  13. The alveolar-capillary membrane diffusing capacity and the pulmonary capillary blood volume in heart transplant candidates

    OpenAIRE

    Al-Rawas, O; Carter, R.; Stevenson, R; Naik, S; Wheatley, D

    2000-01-01

    OBJECTIVES—To determine the mechanism of impairment of pulmonary transfer factor for carbon monoxide (TLCO) in heart transplant candidates, as this is the most common lung function abnormality.
SETTING—Regional cardiopulmonary transplant centre.
METHODS—TLCO and its components (the diffusing capacity of the alveolar-capillary membrane (DM) and the pulmonary capillary blood volume (VC)) were measured using the Roughton and Forster method and the single breath technique in 38 patients with seve...

  14. Targeting of the pulmonary capillary vascular niche promotes lung alveolar repair and ameliorates fibrosis

    OpenAIRE

    Cao, Zhongwei; Lis, Raphael; Ginsberg, Michael; Chavez, Deebly; Shido, Koji; Rabbany, Sina Y.; Fong, Guo-Hua; Sakmar, Thomas P.; Rafii, Shahin; Ding, Bi-Sen

    2016-01-01

    Although the lung can undergo self-repair after injury, fibrosis in chronically injured or diseased lungs can occur at the expense of regeneration. Here we study how a hematopoietic-vascular niche regulates alveolar repair and lung fibrosis. Using intratracheal injection of bleomycin or hydrochloric acid in mice, we show that repetitive lung injury activates pulmonary capillary endothelial cells (PCECs) and perivascular macrophages, impeding alveolar repair and promoting fibrosis. Whereas the...

  15. Increased alveolar/capillary membrane resistance to gas transfer in patients with chronic heart failure.

    OpenAIRE

    Puri, S.; Baker, B. L.; Oakley, C M; Hughes, J. M.; Cleland, J. G.

    1994-01-01

    OBJECTIVE--To investigate pulmonary diffusive resistance to gas exchange in patients with heart failure and healthy volunteers, assessing the relative contributions of the alveolar/capillary membrane and pulmonary capillary blood. SETTING--Hospital outpatient department and pulmonary function laboratory. PATIENTS--38 patients (mean age 60) receiving treatment with loop diuretics and angiotensin converting enzyme inhibitors for stable symptomatic heart failure of > 6 months duration (New York ...

  16. Spectroscopic Approach to Capillary-Alveolar Membrane Damage Induced Acute Lung Injury

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    Jing Wang

    1999-01-01

    Full Text Available BACKGROUND: Acute (or adult respiratory distress syndrome (ARDS is often associated with a high mortality rate in the critical care population. The term acute lung injury (ALI, a primitive phase of ARDS, was introduced by the European and American consensus groups to provide early diagnoses of ARDS. The pathophysiological characterization of ALI/ARDS – an increased pulmonary capillary-alveolar membrane barrier permeability – is generally not included in current intensive care unit diagnosis criteria.

  17. Loss of alveolar membrane diffusing capacity and pulmonary capillary blood volume in pulmonary arterial hypertension

    Directory of Open Access Journals (Sweden)

    Farha Samar

    2013-01-01

    Full Text Available Abstract Background Reduced gas transfer in patients with pulmonary arterial hypertension (PAH is traditionally attributed to remodeling and progressive loss of pulmonary arterial vasculature that results in decreased capillary blood volume available for gas exchange. Methods We tested this hypothesis by determination of lung diffusing capacity (DL and its components, the alveolar capillary membrane diffusing capacity (Dm and lung capillary blood volume (Vc in 28 individuals with PAH in comparison to 41 healthy individuals, and in 19 PAH patients over time. Using single breath simultaneous measure of diffusion of carbon monoxide (DLCO and nitric oxide (DLNO, DL and Dm were respectively determined, and Vc calculated. Dm and Vc were evaluated over time in relation to standard clinical indicators of disease severity, including brain natriuretic peptide (BNP, 6-minute walk distance (6MWD and right ventricular systolic pressure (RVSP by echocardiography. Results Both DLCO and DLNO were reduced in PAH as compared to controls and the lower DL in PAH was due to loss of both Dm and Vc (all p CO of PAH patients did not change over time, DLNO decreased by 24 ml/min/mmHg/year (p = 0.01. Consequently, Dm decreased and Vc tended to increase over time, which led to deterioration of the Dm/Vc ratio, a measure of alveolar-capillary membrane functional efficiency without changes in clinical markers. Conclusions The findings indicate that lower than normal gas transfer in PAH is due to loss of both Dm and Vc, but that deterioration of Dm/Vc over time is related to worsening membrane diffusion.

  18. Increased cardiac index due to terbutaline treatment aggravates capillary-alveolar macromolecular leakage in oleic acid lung injury in dogs

    OpenAIRE

    Briot, Raphael; Bayat, Sam; Anglade, Daniel; Martiel, Jean-Louis; Grimbert, Francis

    2009-01-01

    Introduction We assessed the in vivo effects of terbutaline, a beta2-agonist assumed to reduce microvascular permeability in acute lung injury. Methods We used a recently developed broncho-alveolar lavage (BAL) technique to repeatedly measure (every 15 min. for 4 hours) the time-course of capillary-alveolar leakage of a macromolecule (fluorescein-labeled dextran) in 19 oleic acid (OA) lung injured dogs. BAL was performed in a closed lung sampling site, using a bronchoscope fitted with an infl...

  19. Is length an appropriate estimator to characterize pulmonary alveolar capillaries? A critical evaluation in the human lung

    DEFF Research Database (Denmark)

    Mühlfeld, Christian; Weibel, Ewald R.; Hahn, Ute;

    2010-01-01

    Stereological estimations of total capillary length have been used to characterize changes in the alveolar capillary network (ACN) during developmental processes or pathophysiological conditions. Here, we analyzed whether length estimations are appropriate to describe the 3D nature of the ACN. Semi...... resulted in a mean of 2,746 km (SD: 722 km). Because of the geometry of the ACN both approaches carry an unpredictable bias. The bias incurred by the design-based approach is proportional to the ratio between radius and length of the capillary segments in the ACN, the number of branching points and the...... winding of the capillaries. The model-based approach is biased because of the real noncylindrical shape of capillaries and the network structure. In conclusion, the estimation of the total length of capillaries in the ACN cannot be recommended as the geometry of the ACN does not fulfill the requirements...

  20. Increased pulmonary alveolar-capillary permeability in patients at risk for adult respiratory distress syndrome

    International Nuclear Information System (INIS)

    Two methods for predicting adult respiratory distress syndrome (ARDS) were evaluated prospectively in a group of 81 multitrauma and sepsis patients considered at clinical high risk. A popular ARDS risk-scoring method, employing discriminant analysis equations (weighted risk criteria and oxygenation characteristics), yielded a predictive accuracy of 59% and a false-negative rate of 22%. Pulmonary alveolar-capillary permeability (PACP) was determined with a radioaerosol lung-scan technique in 23 of these 81 patients, representing a statistically similar subgroup. Lung scanning achieved a predictive accuracy of 71% (after excluding patients with unilateral pulmonary contusion) and gave no false-negatives. We propose a combination of clinical risk identification and functional determination of PACP to assess a patient's risk of developing ARDS

  1. Clinical studies of alveolar-capillary permeability using technetium-99m DTPA aerosol

    International Nuclear Information System (INIS)

    Soluble radioaerosols such as technetium-99m diethylene triamine pentacetate (DTPA) permit simple quantitative studies of alveolar-capillary permeability to be performed, since the submicronic aerosols are deposited mainly at the lung periphery and are cleared across the alveolar-capillary membrane. Regional alterations in permeability can also be noted using this radionuclide technique. We have measured the pulmonary epithelial permeability in normal subjects and the alteration in smokers, glue-sniffers, patients with inhalation burns, chronic obstructive pulmonary disease (COPD) and patients with lung metastases from thyroid cancer treated with radioiodine 131I. In the normal volunteers, the time taken for 50% of inhaled 99mTc DTPA to be cleared from the lungs (T1/2) was 66 minutes±1 sd of 12 mins. The smokers had a mean T1/2 of 20 mins±1 sd 4 min. In the hard-core glue-sniffing group, the majority were smokers who had stopped smoking and glue-sniffing for periods varying from 1 day to 42 days, and it was possible to note the changes in clearance times against period of abstinence. In the patients with inhalation burns, there was change in lung clearance arising from pulmonary epithelial damage; these patients showed increased rate of clearance (short T1/2) with mean T1/2 of 36 min±1 sd of 11 mins, while the retention images revealed regional lung damage in moderately severe inhalation burns. Twenty-four patients with COPD had inhalation scans done with Tc-99m tin colloid radioaerosol, and these images were compared with the perfusion lung scans done with 99mTc macroaggregated albumin (MAA); in general the perfusion images matched the defects noted in the inhalation scans. The 99mTc DTPA clearance rate in these patients was normal i.e. T1/2=78±14 mins. In the thyroid cancer patients with lung metastases, who had high doses of radioiodine treatment, the T1/2 values were normal or prolonged slightly, mean T1/2=76 min±23. (author)

  2. Genetics Home Reference: alveolar capillary dysplasia with misalignment of pulmonary veins

    Science.gov (United States)

    ... pulmonary veins Enable Javascript to view the expand/collapse boxes. Print All Open ... vessels. The disorder affects the millions of small air sacs (alveoli) in the lungs and the tiny blood vessels ( ...

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

    OpenAIRE

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

    2005-01-01

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

  4. Dynamic 99mTc-DTPA radioaerosol lung scanning for the evaluation of alveolar-capillary barrier permeability

    International Nuclear Information System (INIS)

    Pulmonary clearance of small droplet 99mTc-DTPA radioaerosol was studied in 100 patients (12 normal subjects, N; 10 asymptomatic healthy smoker, FA; 31 patients with interstitial lung diseases, IP; 47 patients with chronic obstructive lung disease, BPCO). The first seven minutes of clearance were described with the function At=Ao*exp(-K*t) and the time constant K was considered representative of the 99mTc-DTPA clearance rate and hence of the alveolar-capillary barrier permeability. Groups FA, IP and BPCO showed a significant (p99mTc-DTPA dynamic lung scanning is an easy, non-invasive method to assess derangements of alveolar-capillary barrier permeability secondary to epithelial damage; 2) permeability increase is a very early effect of cigarette smoke damafe to the epithelium; 3) other mechanisms of epithelial injury are present in diffuse lung disease; 4) while the clinical role of this new pathophysiological test is not yet clear, it is likely that it may become a very early marker of pulmonary epithelial damage in diffuse lung disease

  5. Inflammatory and cytotoxic responses of an alveolar-capillary coculture model to silica nanoparticles: Comparison with conventional monocultures

    Directory of Open Access Journals (Sweden)

    Stauber Roland

    2011-01-01

    Full Text Available Abstract Background To date silica nanoparticles (SNPs play an important role in modern technology and nanomedicine. SNPs are present in various materials (tyres, electrical and thermal insulation material, photovoltaic facilities. They are also used in products that are directly exposed to humans such as cosmetics or toothpaste. For that reason it is of great concern to evaluate the possible hazards of these engineered particles for human health. Attention should primarily be focussed on SNP effects on biological barriers. Accidentally released SNP could, for example, encounter the alveolar-capillary barrier by inhalation. In this study we examined the inflammatory and cytotoxic responses of monodisperse amorphous silica nanoparticles (aSNPs of 30 nm in size on an in vitro coculture model mimicking the alveolar-capillary barrier and compared these to conventional monocultures. Methods Thus, the epithelial cell line, H441, and the endothelial cell line, ISO-HAS-1, were used in monoculture and in coculture on opposite sides of a filter membrane. Cytotoxicity was evaluated by the MTS assay, detection of membrane integrity (LDH release, and TER (Transepithelial Electrical Resistance measurement. Additionally, parameters of inflammation (sICAM-1, IL-6 and IL-8 release and apoptosis markers were investigated. Results Regarding toxic effects (viability, membrane integrity, TER the coculture model was less sensitive to apical aSNP exposure than the conventional monocultures of the appropriate cells. On the other hand, the in vitro coculture model responded with the release of inflammatory markers in a much more sensitive fashion than the conventional monoculture. At concentrations that were 10-100fold less than the toxic concentrations the apically exposed coculture showed a release of IL-6 and IL-8 to the basolateral side. This may mimic the early inflammatory events that take place in the pulmonary alveoli after aSNP inhalation. Furthermore, a number

  6. Regulation and repair of the alveolar-capillary barrier in acute lung injury.

    Science.gov (United States)

    Bhattacharya, Jahar; Matthay, Michael A

    2013-01-01

    Considerable progress has been made in understanding the basic mechanisms that regulate fluid and protein exchange across the endothelial and epithelial barriers of the lung under both normal and pathological conditions. Clinically relevant lung injury occurs most commonly from severe viral and bacterial infections, aspiration syndromes, and severe shock. The mechanisms of lung injury have been identified in both experimental and clinical studies. Recovery from lung injury requires the reestablishment of an intact endothelial barrier and a functional alveolar epithelial barrier capable of secreting surfactant and removing alveolar edema fluid. Repair mechanisms include the participation of endogenous progenitor cells in strategically located niches in the lung. Novel treatment strategies include the possibility of cell-based therapy that may reduce the severity of lung injury and enhance lung repair. PMID:23398155

  7. Neonatal hyperoxia alters the pulmonary alveolar and capillary structure of 40-day-old rats.

    OpenAIRE

    Randell, S. H.; Mercer, R.R.; Young, S L

    1990-01-01

    High inspired oxygen concentrations during the neonatal period profoundly inhibit rat lung development, an effect that is partly reversed during recovery in air. Persistent effects of neonatal hyperoxia on the size and number of alveoli or the structure of pulmonary capillaries have not been well defined. Using light and electron microscopic morphometry plus quantitative three-dimensional reconstructions of alveoli, we examined the lungs of 40-day-old rats that were exposed to more than 95% o...

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

    Science.gov (United States)

    Thébaud, Bernard; Abman, Steven H

    2007-05-15

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

  9. Iron deposition and increased alveolar septal capillary density in nonfibrotic lung tissue are associated with pulmonary hypertension in idiopathic pulmonary fibrosis

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    Bartholmai Brian J

    2010-04-01

    Full Text Available Abstract Background Early diagnosis of pulmonary hypertension (PH in idiopathic pulmonary fibrosis (IPF has potential prognostic and therapeutic implications but can be difficult due to the lack of specific clinical manifestations or accurate non-invasive tests. Histopathologic parameters correlating with PH in IPF are also not known. Remodeling of postcapillary pulmonary vessels has been reported in the nonfibrotic areas of explanted lungs from IPF patients. We hypothesized that iron deposition and increased alveolar capillaries, the findings often seen in postcapillary PH, might predict the presence of clinical PH, independent of the severity of fibrosis or ventilatory dysfunction in IPF patients. To test this hypothesis, we examined the association between these histologic parameters and the degree of PH, with consideration of the severity of disease in IPF. Methods Iron deposition and alveolar septal capillary density (ASCD were evaluated on histologic sections with hematoxylin-eosin, iron, elastin and CD34 stainings. Percentage of predicted forced vital capacity (FVC% was used for grading pulmonary function status. Fibrosis score assessed on high resolution computed tomography (HRCT was used for evaluating overall degree of fibrosis in whole lungs. Right ventricular systolic pressure (RVSP by transthoracic echocardiography was used for the estimation of PH. Univariate and multivariate regression analyses were performed. Results A cohort of 154 patients was studied who had the clinicopathological diagnosis of IPF with surgical lung biopsies or explants during the period of 1997 to 2006 at Mayo Clinic Rochester. In univariate analysis, RVSP in our IPF cases was associated with both iron deposition and ASCD (p Conclusions Iron deposition and ASCD in non fibrotic lung tissue showed an association with RVSP, suggesting that these features are possible morphologic predictors of PH in IPF.

  10. VEGF and endothelium-derived retinoic acid regulate lung vascular and alveolar development.

    Science.gov (United States)

    Yun, Eun Jun; Lorizio, Walter; Seedorf, Gregory; Abman, Steven H; Vu, Thiennu H

    2016-02-15

    Prevention or treatment of lung diseases caused by the failure to form, or destruction of, existing alveoli, as observed in infants with bronchopulmonary dysplasia and adults with emphysema, requires understanding of the molecular mechanisms of alveolar development. In addition to its critical role in gas exchange, the pulmonary circulation also contributes to alveolar morphogenesis and maintenance by the production of paracrine factors, termed "angiocrines," that impact the development of surrounding tissue. To identify lung angiocrines that contribute to alveolar formation, we disrupted pulmonary vascular development by conditional inactivation of the Vegf-A gene during alveologenesis. This resulted in decreased pulmonary capillary and alveolar development and altered lung elastin and retinoic acid (RA) expression. We determined that RA is produced by pulmonary endothelial cells and regulates pulmonary angiogenesis and elastin synthesis by induction of VEGF-A and fibroblast growth factor (FGF)-18, respectively. Inhibition of RA synthesis in newborn mice decreased FGF-18 and elastin expression and impaired alveolarization. Treatment with RA and vitamin A partially reversed the impaired vascular and alveolar development induced by VEGF inhibition. Thus we identified RA as a lung angiocrine that regulates alveolarization through autocrine regulation of endothelial development and paracrine regulation of elastin synthesis via induction of FGF-18 in mesenchymal cells. PMID:26566904

  11. Cervical dysplasia

    Science.gov (United States)

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

  12. [Fibromuscular dysplasia].

    Science.gov (United States)

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

    2015-04-01

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

  13. Sponastrime dysplasia

    International Nuclear Information System (INIS)

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

  14. Disease: H00830 [KEGG MEDICUS

    Lifescience Database Archive (English)

    Full Text Available H00830 Alveolar capillary dysplasia with misalignment of pulmonary veins (ACD/MPV) Alveolar capi ... RH Alveolar capillary dysplasia. Am J Respir Crit Care ... Med 184:172-9 (2011) PMID:21835371 (description) H ...

  15. Kidney Dysplasia

    Science.gov (United States)

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

  16. 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.

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

    Directory of Open Access Journals (Sweden)

    Maresa E. C. Jiskoot-Ermers

    2015-10-01

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

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

    Science.gov (United States)

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

    2015-10-01

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

  19. Septo-Optic Dysplasia

    Science.gov (United States)

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

  20. Arrhythmogenic Right Ventricular Dysplasia

    Science.gov (United States)

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

  1. Fibromuscular dysplasia

    OpenAIRE

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

    2007-01-01

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

  2. Exogenous hydrogen sulfide (H2S protects alveolar growth in experimental O2-induced neonatal lung injury.

    Directory of Open Access Journals (Sweden)

    Arul Vadivel

    Full Text Available BACKGROUND: Bronchopulmonary dysplasia (BPD, the chronic lung disease of prematurity, remains a major health problem. BPD is characterized by impaired alveolar development and complicated by pulmonary hypertension (PHT. Currently there is no specific treatment for BPD. Hydrogen sulfide (H2S, carbon monoxide and nitric oxide (NO, belong to a class of endogenously synthesized gaseous molecules referred to as gasotransmitters. While inhaled NO is already used for the treatment of neonatal PHT and currently tested for the prevention of BPD, H2S has until recently been regarded exclusively as a toxic gas. Recent evidence suggests that endogenous H2S exerts beneficial biological effects, including cytoprotection and vasodilatation. We hypothesized that H2S preserves normal alveolar development and prevents PHT in experimental BPD. METHODS: We took advantage of a recently described slow-releasing H2S donor, GYY4137 (morpholin-4-ium-4-methoxyphenyl(morpholino phosphinodithioate to study its lung protective potential in vitro and in vivo. RESULTS: In vitro, GYY4137 promoted capillary-like network formation, viability and reduced reactive oxygen species in hyperoxia-exposed human pulmonary artery endothelial cells. GYY4137 also protected mitochondrial function in alveolar epithelial cells. In vivo, GYY4137 preserved and restored normal alveolar growth in rat pups exposed from birth for 2 weeks to hyperoxia. GYY4137 also attenuated PHT as determined by improved pulmonary arterial acceleration time on echo-Doppler, pulmonary artery remodeling and right ventricular hypertrophy. GYY4137 also prevented pulmonary artery smooth muscle cell proliferation. CONCLUSIONS: H2S protects from impaired alveolar growth and PHT in experimental O2-induced lung injury. H2S warrants further investigation as a new therapeutic target for alveolar damage and PHT.

  3. Mondini dysplasia

    International Nuclear Information System (INIS)

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

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

    OpenAIRE

    Witsch, Jörn Thilo

    2013-01-01

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

  5. Pulmonary capillary haemangiomatosis in a premature infant

    International Nuclear Information System (INIS)

    Pulmonary capillary haemangiomatosis (PCH) is a rare disorder characterized by widespread capillary proliferation in the lung, infiltrating the interstitium and the alveolar walls. We present the HRCT features of PCH in a surviving ex-premature infant. To our knowledge, this is a unique case of the radiological features of PCH in a young living infant. (orig.)

  6. Pulmonary capillary haemangiomatosis in a premature infant

    Energy Technology Data Exchange (ETDEWEB)

    Silva, Cicero J.T.A.; Massie, John; Mandelstam, Simone A. [University of Melbourne, Royal Children' s Hospital, Parkville, VIC (Australia)

    2005-06-01

    Pulmonary capillary haemangiomatosis (PCH) is a rare disorder characterized by widespread capillary proliferation in the lung, infiltrating the interstitium and the alveolar walls. We present the HRCT features of PCH in a surviving ex-premature infant. To our knowledge, this is a unique case of the radiological features of PCH in a young living infant. (orig.)

  7. Oculodentodigital dysplasia.

    Science.gov (United States)

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

    2016-03-01

    Oculodentodigital dysplasia is a rare, autosomal dominant disorder with high penetrance and variable expressivity, caused by mutations in the connexin 43 or gap junction protein alpha-1 gene. It has been diagnosed in fewer than 300 people worldwide with an incidence of around 1 in 10 million. It affects many parts of the body, particularly eyes (oculo), teeth (dento), and fingers and/or toes (digital). The common clinical features include facial dysmorphism with thin nose, microphthalmia, syndactyly, tooth anomalies such as enamel hypoplasia, anodontia, microdontia, early tooth loss and conductive deafness. Other less common features are abnormalities of the skin and its appendages, such as brittle nails, sparse hair, and neurological abnormalities. To prevent this syndrome from being overlooked, awareness of possible symptoms is necessary. Early recognition can prevent blindness, dental problems and learning disabilities. Described here is the case of a 21-year-old male who presented to the ophthalmology outpatient department with a complaint of bilateral progressive loss of vision since childhood. PMID:27146935

  8. Oculodentodigital dysplasia

    Directory of Open Access Journals (Sweden)

    Dharmil C Doshi

    2016-01-01

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

  9. Bronchopulmonary dysplasia: understanding of the underlying pathological mechanisms

    Directory of Open Access Journals (Sweden)

    Daniela Fanni

    2014-06-01

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

  10. Pulmonary alveolar proteinosis

    Science.gov (United States)

    Alveolar proteinosis; Pulmonary alveolar phospholipoproteinosis ... In some cases, the cause of pulmonary alveolar proteinosis is unknown. In others, it occurs with lung infection or an immune problem. It also can occur with cancers of the blood system, ...

  11. 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

  12. 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.

  13. Genetics Home Reference: oculodentodigital dysplasia

    Science.gov (United States)

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

  14. Arrhythmogenic right ventricular dysplasia

    OpenAIRE

    Bockeria O.L.; Lе T.G.

    2015-01-01

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

  15. Telescopic overdenture for oral rehabilitation of ectodermal dysplasia patient

    OpenAIRE

    Charu Gupta; Mahesh Verma; Rekha Gupta; Shubhra Gill

    2015-01-01

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

  16. Immediate Overlay Removable Partial Dentures for a Patient with Ectodermal Dysplasia: A Clinical Report

    Directory of Open Access Journals (Sweden)

    Ramin Negahdari

    2016-01-01

    Full Text Available Ectodermal dysplasia has several characteristic signs and symptoms, including anadontia or hypodontia, conical and hypoplastic teeth, atrophic alveolar ridges, protuberant lips, and hypotrichosis. Definitive treatment options for these patients are several including fixed, removable or implant-supported prostheses. Economic limitations or other priorities can prevent patients from choosing the most desirable treatment. This clinical report describes the prosthetic rehabilitation of a patient with ectodermal dysplasia. The treatment developed an overlay immediate removable partial denture fabricated to reconstruct acceptable occlusal vertical dimension, function and esthetics. A 2-year period of follow up showed the minor chipping of composite layer on the metal substructure. Keywords: Ectodermal dysplasia, mouth rehabilitation

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

    OpenAIRE

    Clyman, Ronald I.

    2013-01-01

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

  18. 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.

  19. Phagocytic properties of lung alveolar wall cells

    Directory of Open Access Journals (Sweden)

    Tanaka,Akisuke

    1974-04-01

    Full Text Available For the purpose to define the mechanism of heavy metal intoxication by inhalation, morphologic observations were made on rat lungs after nasal instillation of iron colloid particles of positive and negative electric charges. Histochemical observation was also made on the liver and spleen of these animals. The instilled iron colloid particles reach the alveolar cavity easily, as can be seen in the tissue sections stained by Prussian blue reaction. Alveolar macrophages do take up them avidly both of positive and negative charges, though much less the positive particles than negative ones. In contrast, the alveolar epithelial cells take up solely positive particles by phagocytosis but not negative ones. Electron microscope observation revealed that the positive particles are ingested by Type I epithelial cells by pinocytosis and by Type II cells by phagocytosis as well. Then the iron colloid particles are transferred into the basement membrane by exocytosis. Travelling through the basement membrane they are again taken up by capillary endothelial cells by phagocytosis. Some particles were found in the intercellular clefts of capillary endothelial cells but not any iron colloid particles in the intercellular spaces of epithelial cells and in the capillary lumen. However, the liver and spleen tissues of the animals given iron colloid showed a strong positive iron reaction. On the basis of these observations, the mechanism of acute intoxication by inhaling heavy metal dusts like lead fume is discussed from the view point of selective uptake of alveolar epithelial and capillary endothelial cells for the particles of the positive electric cha'rge.

  20. Dysplasia epiphysealis capitis femoris. Meyer dysplasia

    Directory of Open Access Journals (Sweden)

    Enrique Vergara-Amador

    2011-01-01

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

  1. Pulmonary alveolar proteinosis

    OpenAIRE

    Crestani, B; Epaud, R.; Aubier, M.; M-C. Dombret; Taille, C.; M-P. Debray; Danel, C.; R. Borie

    2011-01-01

    Pulmonary alveolar proteinosis (PAP) is a rare pulmonary disease characterised by alveolar accumulation of surfactant. It may result from mutations in surfactant proteins or granulocyte macrophage-colony stimulating factor (GM-CSF) receptor genes, it may be secondary to toxic inhalation or haematological disorders, or it may be auto-immune, with anti-GM-CSF antibodies blocking activation of alveolar macrophages. Auto-immune alveolar proteinosis is the most frequent form of PAP, representing 9...

  2. Treatment of hip dysplasia.

    Science.gov (United States)

    Anderson, A

    2011-04-01

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

  3. Polyostotic fibrous dysplasia

    International Nuclear Information System (INIS)

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

  4. Polyostotic fibrous dysplasia

    Energy Technology Data Exchange (ETDEWEB)

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

    1994-02-15

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

  5. Craniofacial fibrous dysplasia

    Directory of Open Access Journals (Sweden)

    Aakarsh Jhamb

    2012-01-01

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

  6. Cellular and Molecular Mechanisms of Alveolar Destruction in Emphysema: An Evolutionary Perspective

    OpenAIRE

    Tuder, Rubin M.; Yoshida, Toshinori; Arap, Wadih; Pasqualini, Renata; Petrache, Irina

    2006-01-01

    Emphysema consists of a unique pattern of alveolar destruction, resulting in marked airspace enlargement with reduction of alveolar capillary exchange area. Classical concepts of the pathogenesis of emphysema have relied on the paradigm set by the inflammation and protease/antiprotease imbalance. We propose herein that cigarette smoke constitutes an environmental hazard that causes alveolar destruction by the interaction of apoptosis, oxidative stress, and protease/antiprotease imbalance. We ...

  7. Immediate Overlay Removable Partial Dentures for a Patient with Ectodermal Dysplasia: A Clinical Report

    OpenAIRE

    Ramin Negahdari; Alireza Pournasrollah; Seyyed Mahdi Vahid Pakdel; Sepideh Bohlouli

    2016-01-01

    Ectodermal dysplasia has several characteristic signs and symptoms, including anadontia or hypodontia, conical and hypoplastic teeth, atrophic alveolar ridges, protuberant lips, and hypotrichosis. Definitive treatment options for these patients are several including fixed, removable or implant-supported prostheses. Economic limitations or other priorities can prevent patients from choosing the most desirable treatment. This clinical report describes the prosthetic rehabilitation of a patient ...

  8. Computed tomographic features of fibrous dysplasia of maxillofacial region

    Energy Technology Data Exchange (ETDEWEB)

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

    2011-03-15

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

  9. Capillary remodeling in bleomycin-induced pulmonary fibrosis.

    OpenAIRE

    Schraufnagel, D. E.; Mehta, D.; Harshbarger, R.; Treviranus, K.; Wang, N. S.

    1986-01-01

    Lung fibrosis is a process in which collagen is laid down and the delicate capillary-alveolar relationship is disturbed. The architectural changes which occur in the capillaries, a main element of the oxygen transferring unit, are difficult to illustrate without a three-dimensional tool, such as scanning electron microscopy. Therefore, a scanning electron microscopic study was undertaken to show the capillary changes of lung fibrosis. Fibrosis was induced in rats by intratracheal instillation...

  10. Cloverleaf skull with generalised bone dysplasia

    International Nuclear Information System (INIS)

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

  11. Thanatophoric dysplasia in identical twins.

    OpenAIRE

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

    1989-01-01

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

  12. 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.

  13. Renal dysplasia: US findings

    International Nuclear Information System (INIS)

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

  14. Renal dysplasia: US findings

    Energy Technology Data Exchange (ETDEWEB)

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

    1993-12-15

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

  15. Gambaran Radiografi Dari Dentin Dysplasia

    OpenAIRE

    Sipayung, Andrew Naro Mario

    2011-01-01

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

  16. CONSERVATIVE TREATMENT OF HIP DYSPLASIA

    OpenAIRE

    Mikhail Mikhailovich Kamosko; Mahmoud Stanislavovich Poznovich

    2014-01-01

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

  17. Oral epithelial dysplasia classification systems

    DEFF Research Database (Denmark)

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

    2008-01-01

    report, we review the oral epithelial dysplasia classification systems. The three classification schemes [oral epithelial dysplasia scoring system, squamous intraepithelial neoplasia and Ljubljana classification] were presented and the Working Group recommended epithelial dysplasia grading for routine....... Several studies have shown great interexaminer and intraexaminer variability in the assessment of the presence or absence and the grade of oral epithelial dysplasia. The Working Group considered the two class classification (no/questionable/ mild - low risk; moderate or severe - implying high risk) and...

  18. Airway Delivery of Mesenchymal Stem Cells Prevents Arrested Alveolar Growth in Neonatal Lung Injury in Rats

    OpenAIRE

    van Haaften, Timothy; Byrne, Roisin; Bonnet, Sebastien; Rochefort, Gael Y.; Akabutu, John; Bouchentouf, Manaf; Rey-Parra, Gloria J.; Galipeau, Jacques; Haromy, Alois; Eaton, Farah; Chen, Ming; Hashimoto, Kyoko; Abley, Doris; Korbutt, Greg; Archer, Stephen L.

    2009-01-01

    Rationale: Bronchopulmonary dysplasia (BPD) and emphysema are characterized by arrested alveolar development or loss of alveoli; both are significant global health problems and currently lack effective therapy. Bone marrow–derived mesenchymal stem cells (BMSCs) prevent adult lung injury, but their therapeutic potential in neonatal lung disease is unknown.

  19. Spondyloepiphyseal dysplasia tarda

    International Nuclear Information System (INIS)

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

  20. Pulmonary alveolar proteinosis

    OpenAIRE

    Patel, Sandeep M; Sekiguchi, Hiroshi; Jordan P Reynolds; Krowka, Michael J.

    2012-01-01

    Pulmonary alveolar proteinosis (PAP) is a disease of alveolar accumulation of phospholipoproteinaceous material that results in gas exchange impairment leading to dyspnea and alveolar infiltrates. There are three forms of PAP: congenital, acquired and idiopathic; of which the latter two are predominant in the adult population. Previous case studies have found that the acquired form can be secondary to various autoimmune, infectious, malignant and environmental etiologies. Recent advances in t...

  1. Pulmonary Alveolar Proteinosis

    OpenAIRE

    Patel, Sandeep M; Hiroshi Sekiguchi; Jordan P Reynolds; Krowka, Michael J.

    2012-01-01

    Pulmonary alveolar proteinosis (PAP) is a disease of alveolar accumulation of phospholipoproteinaceous material that results in gas exchange impairment leading to dyspnea and alveolar infiltrates. There are three forms of PAP: congenital, acquired and idiopathic; of which the latter two are predominant in the adult population. Previous case studies have found that the acquired form can be secondary to various autoimmune, infectious, malignant and environmental etiologies. Recent advances in t...

  2. Primary pulmonary alveolar proteinosis

    OpenAIRE

    Šarac Sanja; Milić Rade; Zolotarevski Lidija; Aćimović Slobodan; Tomić Ilija; Plavec Goran

    2012-01-01

    Introduction. Pulmonary alveolar proteinosis is an uncommon disease characterized by the accumulation of surfactant proteins and phospholipids within the alveolar spaces. Acquired disease can be idiopathic (primary) and secondary. The prevalence of acquired pulmonary alveolar proteinosis is about 0.37 per 100,000 persons. Common symptoms are dyspnea and cough. Chest X-ray shows bilateral perihilar infiltrates. Open-lung biopsy is the gold standard for the diagnosis. Treatment includes w...

  3. Extensive pulmonary alveolar microlithiasis

    OpenAIRE

    Rittayamai, Nuttapol; Muangman, Nisa; Ruangchira-Urai, Ruchira

    2013-01-01

    Pulmonary alveolar microlithiasis is a rare pulmonary disorder that is caused by abnormal sodium-dependent phosphate co-transporter from the mutation of SLC34A2 gene, leading to accumulation of microliths in the alveoli. We report the extensive pulmonary alveolar microlithiasis in an elderly woman who presented with progressive dyspnea for 2 months. Chest radiograph revealed diffuse pulmonary calcification. Tissue histopathology from open lung biopsy demonstrated widespread intra-alveolar lam...

  4. Endothelial-monocyte activating polypeptide II disrupts alveolar epithelial type II to type I cell transdifferentiation

    Directory of Open Access Journals (Sweden)

    Chen Yao

    2012-01-01

    Full Text Available Abstract Background Distal alveolar morphogenesis is marked by differentiation of alveolar type (AT-II to AT-I cells that give rise to the primary site of gas exchange, the alveolar/vascular interface. Endothelial-Monocyte Activating Polypeptide (EMAP II, an endogenous protein with anti-angiogenic properties, profoundly disrupts distal lung neovascularization and alveolar formation during lung morphogenesis, and is robustly expressed in the dysplastic alveolar regions of infants with Bronchopulmonary dysplasia. Determination as to whether EMAP II has a direct or indirect affect on ATII→ATI trans-differentiation has not been explored. Method In a controlled nonvascular environment, an in vitro model of ATII→ATI cell trans-differentiation was utilized to demonstrate the contribution that one vascular mediator has on distal epithelial cell differentiation. Results Here, we show that EMAP II significantly blocked ATII→ATI cell transdifferentiation by increasing cellular apoptosis and inhibiting expression of ATI markers. Moreover, EMAP II-treated ATII cells displayed myofibroblast characteristics, including elevated cellular proliferation, increased actin cytoskeleton stress fibers and Rho-GTPase activity, and increased nuclear:cytoplasmic volume. However, EMAP II-treated cells did not express the myofibroblast markers desmin or αSMA. Conclusion Our findings demonstrate that EMAP II interferes with ATII → ATI transdifferentiation resulting in a proliferating non-myofibroblast cell. These data identify the transdifferentiating alveolar cell as a possible target for EMAP II's induction of alveolar dysplasia.

  5. Meyer's dysplasia epiphysealis

    International Nuclear Information System (INIS)

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

  6. Chondroectodermal dysplasia (Ellis van Creveld syndrome: A report of three cases with review of literature

    Directory of Open Access Journals (Sweden)

    Kurian K

    2007-01-01

    Full Text Available Chondroectodermal dysplasia is a rare mesenchymal - ectodermal dysplasia first described in 1940 by Richard W.B. Ellis and Simon van Creveld now known as Ellis van Creveld syndrome. It is also known as Mesvectodermal dysplasia. Majority of cases were characteristically seen in one particular inbred population from the Amish community of Lancaster County, Pennsylvania, U.S.A. The syndrome manifests with several skeletal anomalies, oral mucosal and dental anomalies, congenital cardiac defects and nail dysplasia. Ellis van Creveld syndrome may be differentiated from other chondrodystrophies like achondroplasia, chondroplasia punctata, asphyxiating thorasic dystrophy and Morquio′s syndrome. The presence of oral mucosal and dental alterations like notching of the lower alveolar process, fusion of the upper lip with gingival mucosal margin, occasional presence of neonatal teeth, oligodontia and conical shape of anterior teeth will confirm the diagnosis of Ellis van Creveld syndrome and hence its importance to dentists.

  7. CONSERVATIVE TREATMENT OF HIP DYSPLASIA

    Directory of Open Access Journals (Sweden)

    Михаил Михайлович Камоско

    2014-12-01

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

  8. Cytokinetic study of alveolar macrophage renewal in rats

    International Nuclear Information System (INIS)

    Pools of alveolar macrophages and monocytes were measured by combining morphometry and the extraction of cells by lavage. The turnover rate of macrophages was evaluated by measuring the clearance rate of 59Fe2O3 previously administered by aerosols. The labeling index and S phase duration of cells in alveoli and lung capillaries were determined by autoradiography after 3H-labeled thymidine and 5-125Iododeoxyuridine incorporation. The disappearance rate was determined after specific incorporation of 125Iododeoxyuridine in deoxyribonuclease (DNA) of alveolar macrophages. Steady-state parameters are presented. Under healthy conditions there are almost no macrophages in the interstitium space. Lung capillaries must be considered as a maturation compartment for macrophages before the last dividing stage in the alveoli. This is consistent with the large enrichment of monocytes in the lung and the ability of some of these monocytes to divide inside the capillaries

  9. Pulmonary alveolar microlithiasis

    OpenAIRE

    Gayathri Devi, H.J.; K N Mohan Rao; Prathima, K. M.; Das, Jayanth K.

    2011-01-01

    Pulmonary alveolar microlithiasis is a rare disease of unknown cause. We report a case in a young boy who presented with history of failure to thrive and chest X-ray finding suggestive of miliary mottling. Open lung biopsy revealed pulmonary alveolar microlithiasis.

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

    DEFF Research Database (Denmark)

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

    2002-01-01

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

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

    Science.gov (United States)

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

    2016-12-01

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

  12. Canine Hip Dysplasia: Breed Effects

    OpenAIRE

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

    1980-01-01

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

  13. Focal cortical dysplasia – review

    OpenAIRE

    Kabat, Joanna; Król, Przemysław

    2012-01-01

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

  14. 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.

  15. Dentin dysplasia type I

    OpenAIRE

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

    2013-01-01

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

  16. Arrhythmogenic right ventricular dysplasia

    Directory of Open Access Journals (Sweden)

    Bockeria O.L.

    2015-06-01

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

  17. Congenital Pulmonary Alveolar Proteinosis

    OpenAIRE

    Saber Hammami; Khaled Harrathi; Khaled Lajmi; Samir Hadded; Chebil Ben Meriem; Mohamed Néji Guédiche

    2013-01-01

    Pulmonary alveolar proteinosis (PAP) is a rare syndrome characterized by pulmonary surfactant accumulation within the alveolar spaces. It occurs with a reported prevalence of 0.1 per 100,000 individuals. Two clinically different pediatric types have been defined as congenital PAP which is fatal and a late-onset PAP which is similar to the adult form and less severe. The clinical course of PAP is variable, ranging from spontaneous remission to respiratory failure. Whole-lung lavage is the curr...

  18. Capillary electrophoresis

    International Nuclear Information System (INIS)

    After a short historical introduction, the different modes of separation in capillary electrophoresis are explained and illustrated by practical examples. In addition, the most important parameters that can be used to optimize the selectivity of the separation, are discussed. (author) 27 refs.; 8 figs

  19. Application of linear integration in the morphometric study of mild and severe pulmonary alveolar injury.

    Science.gov (United States)

    Coulombe, P A; Côté, M G

    1988-02-01

    In this study we applied linear integration morphometry to characterize the pulmonary alveolar reaction to toxic injury and to study possible relationships between the major tissue and cell compartments of alveolar tissue, normal and injured. Acute alveolar injury of mild and severe intensity was induced in Swiss-Webster mice by the ip administration of the chemicals diquat (4 mg/kg) and butylated hydroxytoluene (BHT; 400 mg/kg). Animals were sacrificed at Days 1 and 2 after diquat treatment and at Days 1, 3, and 5 after BHT treatment. Sampling and analysis of alveolar tissue were conducted at both levels of light and electron microscopy. Thickness distributions of arithmetic and reciprocal intercepts, as well as the arithmetic (tau) and harmonic (tau h) mean thicknesses, were established for the following alveolar compartments: septum, alveolo-capillary barrier (ACB), type I and total epithelia, capillary endothelium, and interstitium. A relative measure of the pulmonary diffusion capacity and the capillary load of alveolar septa were also determined. The parameters calculated from these thickness distributions, such as their slopes, percentages of thin intercepts, and tau/tau h ratios, proved very sensitive and useful in the detection and characterization of morphological alterations in the type I epithelial and capillary endothelial cells following either mild or severe alveolar injury. The epithelial, endothelial, and interstitial layers of pulmonary septa were all characterized by their own pattern of structural changes, so that it proved impossible to relate them in a simple way to the tissue reaction, which can be easily studied at the light microscopic level. Linear integration morphometry thus proved very useful as a morphometric approach to the study of pulmonary alveolar injury and repair. PMID:3335253

  20. Alveolar liquid pressure measured by micropuncture in isolated lungs of mature and immature fetal rabbits.

    OpenAIRE

    Raj, J U

    1987-01-01

    Increased alveolar surface tension due to surfactant deficiency is thought to result in a negative pressure surrounding pulmonary capillaries and to promote fluid filtration. To test this hypothesis, alveolar liquid pressure (Pliquid) was measured by micropuncture in isolated lungs of mature and immature fetal rabbits (with and without surfactant replacement) at different air inflation pressures (Pairway). Lung maturity was assessed by air pressure-volume (P-V) curves. Pliquid was correlated ...

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

    OpenAIRE

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

    2011-01-01

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

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

    OpenAIRE

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

    2013-01-01

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

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

    OpenAIRE

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

    2013-01-01

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

  4. Pulmonary alveolar proteinosis

    Directory of Open Access Journals (Sweden)

    B. Crestani

    2011-06-01

    Full Text Available Pulmonary alveolar proteinosis (PAP is a rare pulmonary disease characterised by alveolar accumulation of surfactant. It may result from mutations in surfactant proteins or granulocyte macrophage-colony stimulating factor (GM-CSF receptor genes, it may be secondary to toxic inhalation or haematological disorders, or it may be auto-immune, with anti-GM-CSF antibodies blocking activation of alveolar macrophages. Auto-immune alveolar proteinosis is the most frequent form of PAP, representing 90% of cases. Although not specific, high-resolution computed tomography shows a characteristic “crazy paving” pattern. In most cases, bronchoalveolar lavage findings establish the diagnosis. Whole lung lavage is the most effective therapy, especially for auto-immune disease. Novel therapies targeting alveolar macrophages (recombinant GM-CSF therapy or anti-GM-CSF antibodies (rituximab and plasmapheresis are being investigated. Our knowledge of the pathophysiology of PAP has improved in the past 20 yrs, but therapy for PAP still needs improvement.

  5. Pulmonary Alveolar Proteinosis

    Directory of Open Access Journals (Sweden)

    Sandeep M Patel

    2012-01-01

    Full Text Available Pulmonary alveolar proteinosis (PAP is a disease of alveolar accumulation of phospholipoproteinaceous material that results in gas exchange impairment leading to dyspnea and alveolar infiltrates. There are three forms of PAP: congenital, acquired and idiopathic; of which the latter two are predominant in the adult population. Previous case studies have found that the acquired form can be secondary to various autoimmune, infectious, malignant and environmental etiologies. Recent advances in the understanding of the pathophysiology of PAP demonstrate that the idiopathic form is due to antigranulocyte macrophage-colony stimulating factor antibodies. Therapeutic targets that replace granulocyte macrophage colony stimulating factor or remove these antibodies are being actively developed. The current standard of care is to perform whole lung lavage on these patients to clear the alveolar space to help improve respiratory physiology. A case of PAP is reported, followed by a literature review on the diagnosis and management of this rare condition with the aim of increasing awareness among physicians when treating patients who present with alveolar infiltrates.

  6. Diffuse alveolar hemorrhages

    International Nuclear Information System (INIS)

    The Diffuse Alveolar Hemorrhage (DAH) it is a clinical syndrome that generally manifests with hemoptysis, anemia and infiltrated in the thorax x-ray. From the anatomical point of view, the DAH is defined as the presence of blood in the distal alveolar spaces without it can identify any endobronchial abnormality. The radiological presentation of the DAH is characterized by the presence of having infiltrated of alveolar occupation in the Rx of thorax of prevalence perihiliar and bilateral that goes converging to configure an image of complete consolidation of the air space, the apexes and the periphery of the lungs are generally respected. These infiltrated are solved in one to two weeks, but with the repeated episodes of having bled it can develop interstitial fibrosis

  7. Displasia broncopulmonar Bronchopulmonary dysplasia

    Directory of Open Access Journals (Sweden)

    Luciana F. Velloso Monte

    2005-04-01

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

  8. Congenital Pulmonary Alveolar Proteinosis

    Directory of Open Access Journals (Sweden)

    Saber Hammami

    2013-01-01

    Full Text Available Pulmonary alveolar proteinosis (PAP is a rare syndrome characterized by pulmonary surfactant accumulation within the alveolar spaces. It occurs with a reported prevalence of 0.1 per 100,000 individuals. Two clinically different pediatric types have been defined as congenital PAP which is fatal and a late-onset PAP which is similar to the adult form and less severe. The clinical course of PAP is variable, ranging from spontaneous remission to respiratory failure. Whole-lung lavage is the current standard treatment for PAP patients. We report a new congenital case of PAP.

  9. Fibrous dysplasia and cherubism.

    Science.gov (United States)

    Bhattacharya, Surajit; Mishra, R K

    2015-01-01

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

  10. Primary pulmonary alveolar proteinosis

    Directory of Open Access Journals (Sweden)

    Šarac Sanja

    2012-01-01

    Full Text Available Introduction. Pulmonary alveolar proteinosis is an uncommon disease characterized by the accumulation of surfactant proteins and phospholipids within the alveolar spaces. Acquired disease can be idiopathic (primary and secondary. The prevalence of acquired pulmonary alveolar proteinosis is about 0.37 per 100,000 persons. Common symptoms are dyspnea and cough. Chest X-ray shows bilateral perihilar infiltrates. Open-lung biopsy is the gold standard for the diagnosis. Treatment includes whole-lung lavage, application of granulocyte-macrophage colonystimulating factor and lung transplantation. Case report. We reported a 51 year-old man with primary form of the disease. It was the second case of this extremely rare disease in the past 30 years in our clinic. The symptoms were longlasting dry cough, fever and physical deterioration. Chest Xray revealed bilateral pulmonary infiltrates; computed tomography showed patchy ground-glass opacification with interlobular thickening. The diagnosis was established by open lung biopsy. Additional tests were performed to exclude secondary form of the disease. Conclusion. We presented a rare clinical entity with typical clinical features and clinical and radiological course of the disease, in order to improve differential diagnostic approach to patients with bilateral lung infiltrations. In patients with pulmonary alveolar proteinosis timely diagnosis and adequate treatment can improve a prognosis.

  11. Pulmonary alveolar proteinosis

    OpenAIRE

    Chan, Adrian Kwok Wai; Takano, Angela; Hsu, Ann Ling; Low, Su Ying

    2014-01-01

    We report a 68-year-old female who presented with chronic cough and progressive dyspnoea. Computed tomography of the thorax and subsequent bronchoscopy confirmed the diagnosis of pulmonary alveolar proteinosis (PAP), which was treated with whole lung lavage. This case is reported in view of the low incidence of PAP.

  12. Arrhythmogenic right ventricular dysplasia

    International Nuclear Information System (INIS)

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

  13. Electron microscopic studies of various cells in the alveolar wall of mice with special reference to spheroid alveolar epithelial cells after intravenous injection of squid-ink (sepia-melanin solution

    Directory of Open Access Journals (Sweden)

    Suwa,Kiichi

    1977-02-01

    Full Text Available The effect of an intravenous injection of squid-ink (sepia-melanin solution on adult mouse spheroid alveolar epithelial cells was observed by the electron microscope. Sepia-melanin particles were seen in all alveolar wall cells examined that seems to suggest the entrance of sepia-melanin particles into the spheroid alveolar epithlial cells from the alveolar blood capillary. In cases of large penetrations of sepia-melanin particles into spheroid alveolar epithelial cells, a greater increase was found in the intramitochondrial granules. In addition, the so-called inclusion body believed to be formed by the degeneration of mitochondria had very high electron density and its quantity was abundant. On the contrary, in cases where the quantity of sepia-melanin entrance into the spheroid alveolar epithelial cell was small, neither an increase of intramitochondrial granules, an increase of the electron density nor an increase in the quantity of specific inclusion body was found.

  14. Ectodermal dysplasia with true anodontia

    Directory of Open Access Journals (Sweden)

    Madhu Bala

    2011-01-01

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

  15. Focal cortical dysplasia – review

    International Nuclear Information System (INIS)

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

  16. An estimation of mechanical stress on alveolar walls during repetitive alveolar reopening and closure.

    Science.gov (United States)

    Chen, Zheng-Long; Song, Yuan-Lin; Hu, Zhao-Yan; Zhang, Su; Chen, Ya-Zhu

    2015-08-01

    Alveolar overdistension and mechanical stresses generated by repetitive opening and closing of small airways and alveoli have been widely recognized as two primary mechanistic factors that may contribute to the development of ventilator-induced lung injury. A long-duration exposure of alveolar epithelial cells to even small, shear stresses could lead to the changes in cytoskeleton and the production of inflammatory mediators. In this paper, we have made an attempt to estimate in situ the magnitudes of mechanical stresses exerted on the alveolar walls during repetitive alveolar reopening by using a tape-peeling model of McEwan and Taylor (35). To this end, we first speculate the possible ranges of capillary number (Ca) ≡ μU/γ (a dimensionless combination of surface tension γ, fluid viscosity μ, and alveolar opening velocity U) during in vivo alveolar opening. Subsequent calculations show that increasing respiratory rate or inflation rate serves to increase the values of mechanical stresses. For a normal lung, the predicted maximum shear stresses are surface tension or viscosity, the maximum shear stress will notably increase, even at a slow respiratory rate. Similarly, the increased pressure gradients in the case of elevated surface or viscosity may lead to a pressure drop >300 dyn/cm(2) across a cell, possibly inducing epithelial hydraulic cracks. In addition, we have conceived of a geometrical model of alveolar opening to make a prediction of the positive end-expiratory pressure (PEEP) required to splint open a collapsed alveolus, which as shown by our results, covers a wide range of pressures, from several centimeters to dozens of centimeters of water, strongly depending on the underlying pulmonary conditions. The establishment of adequate regional ventilation-to-perfusion ratios may prevent recruited alveoli from reabsorption atelectasis and accordingly, reduce the required levels of PEEP. The present study and several recent animal experiments likewise

  17. Human lung volume, alveolar surface area, and capillary length

    DEFF Research Database (Denmark)

    Wiebe, B. M.; Laursen, Henning

    1995-01-01

    Cavalieri's principle, length density, morphometry, stereology, surface density, vertical sections, vertical slices......Cavalieri's principle, length density, morphometry, stereology, surface density, vertical sections, vertical slices...

  18. Pulmonary alveolar proteinosis

    International Nuclear Information System (INIS)

    Since the original description of pulmonary alveolar proteinosis (PAP) as bilaterally symmetric, confluent, perihilar infiltrates, no large series evaluating the relative frequency of radiographic findings has been published. The authors reviewed 53 histologically proved cases and found a predominantly confluent pattern in 77.4%; of these, 61% had a nodular component. A predominantly nodular pattern was seen in 22.6% often with some coalescence or reticular shadows. Distribution was perhilar 56.6%, diffuse in 26.4%, basilar in 26.4%, and asymmetric in 35.8%. The classic pattern was seen in 18.9%. The authors conclude that the spectrum of patterns in pulmonary alveolar proteinosis is wider than generally appreciated

  19. The alveolar macrophage.

    OpenAIRE

    Bowden, D. H.

    1984-01-01

    The pulmonary macrophagic system is critical to the defense of the lung, keeping the alveoli clean and sterile and responding on demand with an adaptive outpouring of new cells into the air sacs. Under basal conditions alveolar macrophages, in common with other mononuclear phagocytes, are derived from the bone marrow. A population of macrophage precursors within the pulmonary interstitium provides a reserve pool capable of proliferation and delivery of phagocytes in response to unusually heav...

  20. Alveolar Development and Disease

    OpenAIRE

    Jeffrey A Whitsett; Weaver, Timothy E.

    2015-01-01

    Gas exchange after birth is entirely dependent on the remarkable architecture of the alveolus, its formation and function being mediated by the interactions of numerous cell types whose precise positions and activities are controlled by a diversity of signaling and transcriptional networks. In the later stages of gestation, alveolar epithelial cells lining the peripheral lung saccules produce increasing amounts of surfactant lipids and proteins that are secreted into the airspaces at birth. T...

  1. Pulmonary alveolar microlithiasis

    International Nuclear Information System (INIS)

    Pulmonary alveolar microlithiasis (PAM) is a rare disease characterized by the diffuse and bilateral presence of calcium phosphate microlite in the alveolar spaces. The progression of this potentially lethal disease is show and most of the patients remain asymptomatic during years or decades, resulting in a show deterioration of the pulmonary function. The typical finding of the sand storm in the chest X-ray is characteristic of this entity. Mutations in the SLC34A2 gene that does the coding for the type II co-transporter of sodium phosphate were identified as responsible for this disease. Of the almost 600 cases, only 6 have been reported in Colombia. We are presenting a case of pulmonary alveolar microlite in a 27 year old man, with progressive respiratory distress whose diagnosis was made by the X-ray findings and confirmed by trans bronchial biopsy. In the 2 years follow-up, shows evolution towards deterioration of his respiratory function making him a candidate for lung transplantation.

  2. Alveolar development and disease.

    Science.gov (United States)

    Whitsett, Jeffrey A; Weaver, Timothy E

    2015-07-01

    Gas exchange after birth is entirely dependent on the remarkable architecture of the alveolus, its formation and function being mediated by the interactions of numerous cell types whose precise positions and activities are controlled by a diversity of signaling and transcriptional networks. In the later stages of gestation, alveolar epithelial cells lining the peripheral lung saccules produce increasing amounts of surfactant lipids and proteins that are secreted into the airspaces at birth. The lack of lung maturation and the associated lack of pulmonary surfactant in preterm infants causes respiratory distress syndrome, a common cause of morbidity and mortality associated with premature birth. At the time of birth, surfactant homeostasis begins to be established by balanced processes involved in surfactant production, storage, secretion, recycling, and catabolism. Insights from physiology and engineering made in the 20th century enabled survival of newborn infants requiring mechanical ventilation for the first time. Thereafter, advances in biochemistry, biophysics, and molecular biology led to an understanding of the pulmonary surfactant system that made possible exogenous surfactant replacement for the treatment of preterm infants. Identification of surfactant proteins, cloning of the genes encoding them, and elucidation of their roles in the regulation of surfactant synthesis, structure, and function have provided increasing understanding of alveolar homeostasis in health and disease. This Perspective seeks to consider developmental aspects of the pulmonary surfactant system and its importance in the pathogenesis of acute and chronic lung diseases related to alveolar homeostasis. PMID:25932959

  3. Ectodermal dysplasia: a genetic review.

    Science.gov (United States)

    Deshmukh, Seema; Prashanth, S

    2012-09-01

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

  4. Theoretical basis of alveolar sampling.

    OpenAIRE

    Kelman, G R

    1982-01-01

    The conditions under which the partial pressure of a solvent in the alveolar gas is likely to provide a valid index of its partial pressure in the mixed venous blood, and thus of whole-body exposure, is explored on a theoretical basis. Under steady-state conditions, providing the solvent's blood/gas partition coefficient exceeds 10, its mixed venous and alveolar pressures will agree within 10% and become virtually identical during the prolonged expiration necessary to obtain an alveolar sampl...

  5. 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.

  6. Craniofacial fibrous dysplasia - radiological findings

    International Nuclear Information System (INIS)

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

  7. CT in alveolar proteinosis

    International Nuclear Information System (INIS)

    Nine patients with pulmonary alveolar proteinosis (PAP) were scanned with CT. Results were not specific for PAP but may be help0ful in the differential diagnosis is visualization of pulmonary vessels is maintained and air bronchograms are scarce in diseased areas. CT is better than conventional radiography in identifying infectious complications and evaluating disease extent and may help in deciding whether or not therapeutic lavage is indicated. CT has also identified an interstitial component of PAP that correlates histologically with an inflammatory cell infiltrate. The cellular infiltrate may play a role in the development of the interstitial fibrosis seen in some cases of PAP

  8. Genetics Home Reference: pulmonary alveolar microlithiasis

    Science.gov (United States)

    ... Genetics Home Health Conditions pulmonary alveolar microlithiasis pulmonary alveolar microlithiasis Enable Javascript to view the expand/collapse boxes. Print All Open All Close All Description ...

  9. Pulmonary alveolar proteinosis

    Directory of Open Access Journals (Sweden)

    Hadice Selimoğlu Şen

    2011-06-01

    Full Text Available Pulmonary alveolar proteinosis is a rare disease characterized by the accumulation of lipoproteinosis material within the alveoli. A 36 age male patient applied to our hospital with dyspnea that began 5 months ago. Bilateral diffuse infiltration on postero-anterior chest graphy was seen. Arterial blood gas measurements (ABG was: pH:7.44, pCO2: 36 mmHg, pO2: 49 mmHg, SaO2: 85%, HCO3: 24 mmol/L. High resolution computed tomography (HRCT reported as bilateral diffuse ground glass areas and interlobuler septal thickening on this areas. Asido resistant bacillus was negative in sputum at three times and was also negative in post bronchoscopic sputum and bronchoalveoler lavage material. Wedge resection was made by video-assisted thoracoscopic surgery. Histopathology report of biopsy material revealed “Pulmonary alveolar proteinosis (PAP”. Massive lung lavage under general anesthesia was planned for patient. Clinical improvement was seen in patient beginning from admission and ABG measurements entered the recovery trend in follow-up. Partial pressure of oxygen was increased to 65 mmHg and patient was followed without lung lavage. Control chest radiography and HRCT showed significant radiological improvement. After three months, radiological lesions had completely regressed at control HRCT. As a result, in patients with symptoms and radiologically bilateral diffuse infiltration physicians should consider PAP as a rare disease in the differential diagnosis.

  10. Impaired alveolarization and intra-uterine growth restriction in rats: a postnatal genome-wide analysis.

    Science.gov (United States)

    Zana-Taieb, E; Pham, H; Franco-Montoya, M L; Jacques, S; Letourneur, F; Baud, O; Jarreau, P H; Vaiman, D

    2015-02-01

    Intra-uterine growth restriction (IUGR) dramatically increases the risk of bronchopulmonary dysplasia in preterm babies, a disease characterized by arrested alveolarization and abnormal microvascular angiogenesis. We have previously described a rodent low protein diet (LPD) model of IUGR inducing impaired alveolarization, but failed to demonstrate any modification of the classical factors involved in lung development. We performed a genome-wide microarray analysis in 120 rat pups with LPD-induced IUGR and their controls, at three key time points of the alveolarization process: postnatal day 4 (P4): start of alveolarization; P10: peak of the alveolarization process and P21: end of the alveolarization process. Results were analysed using Arraymining, DAVID and KEGG software and validated by qRT-PCR and western blots. Considering a cut-off of 2:1 as significant, 67 transcripts at P4, 102 transcripts at P10 and 451 transcripts at P21 were up-regulated, and 89 transcripts at P4, 25 transcripts at P10 and 585 transcripts at P21 were down-regulated. Automatic functional classification identified three main modified pathways, 'cell adhesion molecules', 'cardiac muscle contraction' and 'peroxisome proliferator-activated receptor' (PPAR). Protein analysis confirmed involvement of the PPAR pathway, with an increase of FABP4, an activator of this pathway, at P4 and an increase of adiponectin at P21. Other data also suggest involvement of the PPAR pathway in impaired alveolarization. Our results show that deregulation of the PPAR pathway may be an important component of the mechanism inducing impaired alveolarization observed in IUGR. The complete dataset is available as GEO profiles on the Gene Expression Omnibus (GEO) database ( www.ncbi.nih.gov/geo/, GEO Accession No. GSE56956). PMID:25347958

  11. Neonatal hip dysplasia: Differental diagnosis

    Directory of Open Access Journals (Sweden)

    Vukašinović Zoran

    2010-01-01

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

  12. Epithelial dysplasia in Caroli's disease.

    OpenAIRE

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

    1989-01-01

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

  13. Genetics Home Reference: otospondylomegaepiphyseal dysplasia

    Science.gov (United States)

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

  14. Physical Sequestration of Bacillus anthracis in the Pulmonary Capillaries in Terminal Infection.

    Science.gov (United States)

    Jouvion, Gregory; Corre, Jean-Philippe; Khun, Huot; Moya-Nilges, Marie; Roux, Pascal; Latroche, Claire; Tournier, Jean-Nicolas; Huerre, Michel; Chrétien, Fabrice; Goossens, Pierre L

    2016-07-15

    The lung is the terminal target of Bacillus anthracis before death, whatever the route of infection (cutaneous, inhalational, or digestive). During a cutaneous infection in absence of toxins, we observed encapsulated bacteria colonizing the alveolar capillary network, bacteria and hemorrhages in alveolar and bronchiolar spaces, and hypoxic foci in the lung (endothelial cells) and brain (neurons and neuropil). Circulating encapsulated bacteria were as chains of approximately 13 µm in length. Bacteria of such size were immediately trapped within the lung capillary network, but bacteria of shorter length were not. Controlling lung-targeted pathology would be beneficial for anthrax treatment. PMID:26977051

  15. 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.

  16. Alveolar recruitment maneuver in mechanic ventilation pediatric intensive care unit children.

    Science.gov (United States)

    Neves, Valéria Cabral; Koliski, Adriana; Giraldi, Dinarte José

    2009-12-01

    Recent changes were introduced in acute hypoxemic respiratory failure children ventilation methods. There are evidences that less aggressive ventilation strategies can improve severe pulmonary injury survival. Experimental trials evidenced a relationship between inappropriate ventilatory measures and delayed acute pulmonary injury improvement, or even worsening. From this, a protective ventilatory measure arises in combination with alveolar recruitment maneuver. This association is believed in clinical practice to determine importantly reduced morbidity and mortality as well as reduced mechanic ventilation-induced injuries. It is indicated for acute lung injury patients, generally from pneumonia or sepsis, with severe hypoxemia. Its main contraindications are homodynamic instability, pneumothorax and intracranial hypertension. Experimental trials showed beneficial maneuver effects on both oxygenation and alveolar collapse. Adult studies showed improved pulmonary function with hypoxemia reversion. In children, the maneuver lead to significant inspired oxygen fraction and alveolar collapse reductions, less oxygen dependency, improved pulmonary complacency, and reduced bronchopulmonary dysplasia. However, studies in children are limited. Additional investigation is warranted on this matter, and its clinical application evidence. A literature review was conducted based on textbooks and MEDLINE, Pubmed, Cochrane library, SciELO, and Ovid databases, from 1998 to 2009, both in Portuguese and English. Publications on alveolar recruitment maneuver both in adults and children, review articles, experimental and clinical trials were included using the key words: protective ventilatory strategy, alveolar recruitment maneuver, pediatrics and mechanic ventilation. PMID:25307339

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

    Institute of Scientific and Technical Information of China (English)

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

    2014-01-01

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

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

    Science.gov (United States)

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

    2014-10-28

    Skeletal dysplasias are not uncommon entities and a radiologist is likely to encounter a suspected case of dysplasia in his practice. The correct and early diagnosis of dysplasia is important for management of complications and for future genetic counselling. While there is an exhaustive classification system on dysplasias, it is important to be familiar with the radiological features of common dysplasias. In this article, we enumerate a radiographic approach to skeletal dysplasias, describe the essential as well as differentiating features of common non-lethal skeletal dysplasias and conclude by presenting working algorithms to either definitively diagnose a particular dysplasia or suggest the most likely differential diagnoses to the referring clinician and thus direct further workup of the patient. PMID:25349664

  19. The other hip in unilateral hip dysplasia

    DEFF Research Database (Denmark)

    Jacobsen, Steffen; Rømer, Lone; Søballe, Kjeld

    2006-01-01

    We reviewed transverse pelvic computed tomography scans of 197 consecutively referred adult patients with hip pain thought to be secondary to developmental dysplasia. A center-edge angle of 20 degrees or less was considered the upper normal value. Four groups were identified: 69 patients...... with apparently unilateral right developmental dysplasia (left hip center-edge angles greater than 20 degrees), 26 patients with apparently unilateral left developmental dysplasia (right hip center-edge angles greater than 20 degrees), 68 patients with bilateral developmental dysplasia, and 34 patients...... with bilateral borderline developmental dysplasia (bilateral center-edge angles less than or equal to 25 degrees). The pelvic computed tomography scans were compared with computed tomography scans of 41 control subjects with healthy hips. The joint anatomy of patients with developmental dysplasia differed from...

  20. Cleidocranial dysplasia: a case report

    Energy Technology Data Exchange (ETDEWEB)

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

    2005-12-15

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

  1. Cleidocranial dysplasia: a case report

    Energy Technology Data Exchange (ETDEWEB)

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

    2004-03-15

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

  2. Rootless teeth: Dentin dysplasia type I

    Directory of Open Access Journals (Sweden)

    Sangamesh G Fulari

    2013-01-01

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

  3. Osteoarthritis of the hip and acetabular dysplasia.

    OpenAIRE

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

    1991-01-01

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

  4. Reasons and diagnostics of dysplasia in dogs

    OpenAIRE

    Kudláčová, Michala

    2012-01-01

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

  5. PPARs in Alveolar Macrophage Biology

    Directory of Open Access Journals (Sweden)

    Monica R. Smith

    2007-01-01

    Full Text Available PPARs, most notably PPAR-γ, play a crucial role in regulating the activation of alveolar macrophages, which in turn occupy a pivotal place in the immune response to pathogens and particulates drawn in with inspired air. In this review, we describe the dual role of the alveolar macrophage as both a first-line defender through its phagocytotic activity and a regulator of the immune response. Depending on its state of activation, the alveolar macrophage may either enhance or suppress different aspects of immune function in the lung. We then review the role of PPAR-γ and its ligands in deactivating alveolar macrophages—thus limiting the inflammatory response that, if unchecked, could threaten the essential respiratory function of the alveolus—while upregulating the cell's phagocytotic activity. Finally, we examine the role that inadequate or inappropriate PPAR-γ responses play in specific lung diseases.

  6. Ectodermal dysplasia in identical twins

    OpenAIRE

    Gurkar Haraswarupa Puttaraju; Paranjyothi Magadi Visveswariah

    2013-01-01

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

  7. Abses Alveolar Akut Pada Anak

    OpenAIRE

    Delfitri, Meri

    2008-01-01

    Abses alveolar akut adalah suatu kumpulan nanah yang terlokalisasi dalam tulang alveolar sekitar apeks gigi setelah kematian pulpa yang merupakan kelanjutan proses infeksi yang mulai di pulpa dan berkembang ke jaringan periapikal. Perluasan infeksi dari pulpa non vital dapat melalui foramen apikal menuju jaringan periapikal yang mengakibatkan inflamasi akut, bila disertai dengan meningkatnya virulensi bakteri streptokokus alfa, disertai staffilokokus dan sejumlah anaerob lainnya serta r...

  8. Micronuclei in human alveolar macrophages.

    Science.gov (United States)

    D'Agostini, F; Bonatti, S; Oddera, S; De Flora, S

    1992-01-01

    Occurrence of micronuclei was monitored in pulmonary alveolar macrophages collected from 31 individuals undergoing diagnostic bronchoalveolar lavage. The overall frequency of micronucleated cells was 3.88 +/- 1.84/1000, without any significant difference attributable to sex, age, pathology, occupation, or smoking habits. The lack of influence of cigarette smoke on this clastogenicity index presumably reflects the very low rate of mitoses of macrophages in the alveolar lumen. PMID:1579732

  9. Alveolar inflammation in cystic fibrosis

    DEFF Research Database (Denmark)

    Ulrich, Martina; Worlitzsch, Dieter; Viglio, Simona;

    2010-01-01

    BACKGROUND: In infected lungs of the cystic fibrosis (CF) patients, opportunistic pathogens and mutated cystic fibrosis transmembrane conductance regulator protein (CFTR) contribute to chronic airway inflammation that is characterized by neutrophil/macrophage infiltration, cytokine release and...... accumulated in type II alveolar epithelial cells, lacking CFTR. P. aeruginosa organisms were rarely present in inflamed alveoli. CONCLUSIONS: Chronic inflammation and remodeling is present in alveolar tissues of the CF lung and needs to be addressed by anti-inflammatory therapies....

  10. A case report of the fibrous dysplasia

    International Nuclear Information System (INIS)

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

  11. 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.

  12. Stress failure of pulmonary capillaries: role in lung and heart disease

    Science.gov (United States)

    West, J. B.; Mathieu-Costello, O.

    1992-01-01

    Pulmonary capillaries have extremely thin walls to allow rapid exchange of respiratory gases across them. Recently it has been shown that the wall stresses become very large when the capillary pressure is raised, and in anaesthetised rabbits, ultrastructural damage to the walls is seen at pressures of 40 mm Hg and above. The changes include breaks in the capillary endothelial layer, alveolar epithelial layer, and sometimes all layers of the wall. The strength of the thin part of the capillary wall can be attributed to the type IV collagen in the extracellular matrix. Stress failure of pulmonary capillaries results in a high-permeability form of oedema, or even frank haemorrhage, and is apparently the mechanism of neurogenic pulmonary oedema and high-altitude pulmonary oedema. It also explains the exercise-induced pulmonary haemorrhage that occurs in all racehorses. Several features of mitral stenosis are consistent with stress failure. Overinflation of the lung also leads to stress failure, a common cause of increased capillary permeability in the intensive care environment. Stress failure also occurs if the type IV collagen of the capillary wall is weakened by autoantibodies as in Goodpasture's syndrome. Neutrophil elastase degrades type IV collagen and this may be the starting point of the breakdown of alveolar walls that is characteristic of emphysema. Stress failure of pulmonary capillaries is a hitherto overlooked and potentially important factor in lung and heart disease.

  13. Spondyloepiphyseal Dysplasia Tarda in Twins

    Directory of Open Access Journals (Sweden)

    Ferhat Çekmez

    2011-08-01

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

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

    Science.gov (United States)

    Nardiello, Claudio; Morty, Rory E

    2016-12-01

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

  15. Conditional deletion of epithelial IKKβ impairs alveolar formation through apoptosis and decreased VEGF expression during early mouse lung morphogenesis

    Directory of Open Access Journals (Sweden)

    Li Changgong

    2011-10-01

    Full Text Available Abstract Background Alveolar septation marks the beginning of the transition from the saccular to alveolar stage of lung development. Inflammation can disrupt this process and permanently impair alveolar formation resulting in alveolar hypoplasia as seen in bronchopulmonary dysplasia in preterm newborns. NF-κB is a transcription factor central to multiple inflammatory and developmental pathways including dorsal-ventral patterning in fruit flies; limb, mammary and submandibular gland development in mice; and branching morphogenesis in chick lungs. We have previously shown that epithelial overexpression of NF-κB accelerates lung maturity using transgenic mice. The purpose of this study was to test our hypothesis that targeted deletion of NF-κB signaling in lung epithelium would impair alveolar formation. Methods We generated double transgenic mice with lung epithelium-specific deletion of IKKβ, a known activating kinase upstream of NF-κB, using a cre-loxP transgenic recombination strategy. Lungs of resulting progeny were analyzed at embryonic and early postnatal stages to determine specific effects on lung histology, and mRNA and protein expression of relevant lung morphoreulatory genes. Lastly, results measuring expression of the angiogenic factor, VEGF, were confirmed in vitro using a siRNA-knockdown strategy in cultured mouse lung epithelial cells. Results Our results showed that IKKβ deletion in the lung epithelium transiently decreased alveolar type I and type II cells and myofibroblasts and delayed alveolar formation. These effects were mediated through increased alveolar type II cell apoptosis and decreased epithelial VEGF expression. Conclusions These results suggest that epithelial NF-κB plays a critical role in early alveolar development possibly through regulation of VEGF.

  16. Association of alveolar recruitment maneuvers and prone position in acute respiratory disease syndrome patients.

    Science.gov (United States)

    Costa, Daniela Caetano; Rocha, Eduardo; Ribeiro, Tatiane Flores

    2009-06-01

    The acute respiratory distress syndrome is the clinical presentation of acute lung injury characterized by diffuse alveolar damage and development of non-cardiogenic pulmonary edema due to increased pulmonary alveolar-capillary membrane permeability. Alveolar recruitment maneuvers and prone position can be used in the treatment of acute respiratory distress syndrome. The objective of this review of literature was to identify possible benefits, indications, complications and care of the associated recruitment maneuvers and prone position for treatment of the acute respiratory distress syndrome. This national and international scientific literature review was developed according to the established criteria for searching the databases MedLine, LILACS, SciElo, PubMed, Cochrane, from 1994 to 2008 in Portuguese and English, with the key words: acute respiratory distress syndrome, alveolar recruitment maneuver and prone position. Despite advances in the understanding of acute respiratory distress syndrome pathophysiology, mortality is still expressive. Alveolar recruitment maneuvers and prone position significantly contribute to treatment of acute respiratory distress syndrome patient aiming to improve oxygenation and minimizing complications of refractory hypoxemia and reduction of pulmonary compliance. However,as there are few studies in literature associating alveolar recruitment maneuvers and prone position for treatment of acute respiratory distress syndrome, additional research and evidences of clinical application are required. PMID:25303351

  17. Sessile alveolar macrophages communicate with alveolar epithelium to modulate immunity

    Science.gov (United States)

    Westphalen, Kristin; Gusarova, Galina A.; Islam, Mohammad N.; Subramanian, Manikandan; Cohen, Taylor S.; Prince, Alice S.; Bhattacharya, Jahar

    2014-02-01

    The tissue-resident macrophages of barrier organs constitute the first line of defence against pathogens at the systemic interface with the ambient environment. In the lung, resident alveolar macrophages (AMs) provide a sentinel function against inhaled pathogens. Bacterial constituents ligate Toll-like receptors (TLRs) on AMs, causing AMs to secrete proinflammatory cytokines that activate alveolar epithelial receptors, leading to recruitment of neutrophils that engulf pathogens. Because the AM-induced response could itself cause tissue injury, it is unclear how AMs modulate the response to prevent injury. Here, using real-time alveolar imaging in situ, we show that a subset of AMs attached to the alveolar wall form connexin 43 (Cx43)-containing gap junction channels with the epithelium. During lipopolysaccharide-induced inflammation, the AMs remained sessile and attached to the alveoli, and they established intercommunication through synchronized Ca2+ waves, using the epithelium as the conducting pathway. The intercommunication was immunosuppressive, involving Ca2+-dependent activation of Akt, because AM-specific knockout of Cx43 enhanced alveolar neutrophil recruitment and secretion of proinflammatory cytokines in the bronchoalveolar lavage. A picture emerges of a novel immunomodulatory process in which a subset of alveolus-attached AMs intercommunicates immunosuppressive signals to reduce endotoxin-induced lung inflammation.

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

    Science.gov (United States)

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

  19. Wilms' tumour and renal dysplasia: an hypothesis

    OpenAIRE

    Marsden, HB; Lawler, W

    1982-01-01

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

  20. Septo-optic dysplasia (case report)

    OpenAIRE

    Nayak Venkatesh; Bhat K

    1991-01-01

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

  1. Genetics Home Reference: multiple epiphyseal dysplasia

    Science.gov (United States)

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

  2. 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.

  3. Spondylar dysplasia in type X collagenopathy

    International Nuclear Information System (INIS)

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

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

    International Nuclear Information System (INIS)

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

  5. Intramedullary capillary haemangioma.

    LENUS (Irish Health Repository)

    Kelleher, T

    2012-02-03

    Intramedullary capillary haemangioma is extremely rare and only four cases have been previously reported. We describe a further case, outlining the clinical, radiological, surgical and pathological features.

  6. 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.

  7. Congenital acinar dysplasia. Case Report

    International Nuclear Information System (INIS)

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

  8. Craniometadiaphyseal dysplasia, wormian bone type.

    Science.gov (United States)

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

    1998-05-18

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

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

    OpenAIRE

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

    2003-01-01

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

  10. Pulmonary alveolar proteinosis in a cat

    OpenAIRE

    Szatmári, Viktor; Teske, Erik; Peter G. J. Nikkels; Griese, Matthias; de Jong, Pim A.; Grinwis, Guy; Theegarten, Dirk; Veraa, Stefanie; van Steenbeek, Frank G.; Drent, Marjolein; Bonella, Francesco

    2015-01-01

    BACKGROUND: Pulmonary alveolar proteinosis is an extremely rare lung disease in animals and humans. It is characterized by the deposition of a large amount of phospholipoproteinaceous material in the alveoli. There are several possible etiologies, both congenital and acquired. Alveolar macrophages play an important role in the clearance of surfactant. This is the first report of pulmonary alveolar proteinosis in the feline species. CASE PRESENTATION: Pulmonary alveolar proteinosis was diagnos...

  11. Pulmonary alveolar microlithiasis with calcified pleural plaques

    OpenAIRE

    Malhotra Balbir; Sabharwal Raghu; Singh Mandeep; Singh Amarjeet

    2010-01-01

    Pulmonary alveolar microlithiasis (PAM) is a rare disease. Herein we report a case of pulmonary alveolar microlithiasis who was suspected to have the disease on chest X-ray and was confirmed on high resolution CT and transbronchial lung biopsy. These investigations showed characteristic features of pulmonary alveolar microlithiasis with diffuse interstitial pulmonary fibrosis.

  12. Pulmonary alveolar microlithiasis with calcified pleural plaques

    Directory of Open Access Journals (Sweden)

    Malhotra Balbir

    2010-01-01

    Full Text Available Pulmonary alveolar microlithiasis (PAM is a rare disease. Herein we report a case of pulmonary alveolar microlithiasis who was suspected to have the disease on chest X-ray and was confirmed on high resolution CT and transbronchial lung biopsy. These investigations showed characteristic features of pulmonary alveolar microlithiasis with diffuse interstitial pulmonary fibrosis.

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

    Science.gov (United States)

    Koul, Monika; Dwivedi, Rahul; Upadhyay, Vinod

    2014-01-01

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

  14. True Fibroma of Alveolar Mucosa

    Directory of Open Access Journals (Sweden)

    Shankargouda Patil

    2014-01-01

    Full Text Available Benign fibrous overgrowths are often found in the oral cavity, almost always being reactive/irritational in nature. However, benign mesenchymal neoplasms of the fibroblasts are extremely uncommon. Here we report a case of “True Fibroma of Alveolar Mucosa” for its rarity.

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

    Science.gov (United States)

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

    1991-12-15

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

  16. Barrier-protective effects of activated protein C in human alveolar epithelial cells.

    Directory of Open Access Journals (Sweden)

    Ferranda Puig

    Full Text Available Acute lung injury (ALI is a clinical manifestation of respiratory failure, caused by lung inflammation and the disruption of the alveolar-capillary barrier. Preservation of the physical integrity of the alveolar epithelial monolayer is of critical importance to prevent alveolar edema. Barrier integrity depends largely on the balance between physical forces on cell-cell and cell-matrix contacts, and this balance might be affected by alterations in the coagulation cascade in patients with ALI. We aimed to study the effects of activated protein C (APC on mechanical tension and barrier integrity in human alveolar epithelial cells (A549 exposed to thrombin. Cells were pretreated for 3 h with APC (50 µg/ml or vehicle (control. Subsequently, thrombin (50 nM or medium was added to the cell culture. APC significantly reduced thrombin-induced cell monolayer permeability, cell stiffening, and cell contraction, measured by electrical impedance, optical magnetic twisting cytometry, and traction microscopy, respectively, suggesting a barrier-protective response. The dynamics of the barrier integrity was also assessed by western blotting and immunofluorescence analysis of the tight junction ZO-1. Thrombin resulted in more elongated ZO-1 aggregates at cell-cell interface areas and induced an increase in ZO-1 membrane protein content. APC attenuated the length of these ZO-1 aggregates and reduced the ZO-1 membrane protein levels induced by thrombin. In conclusion, pretreatment with APC reduced the disruption of barrier integrity induced by thrombin, thus contributing to alveolar epithelial barrier protection.

  17. 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.

  18. Posttraumatic Cranial Cystic Fibrous Dysplasia

    Directory of Open Access Journals (Sweden)

    Arata Tomiyama

    2011-01-01

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

  19. 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.

  20. Segmental renal dysplasia--a case report.

    OpenAIRE

    Gupta S; Chumber S; Sharma L

    1995-01-01

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

  1. Congenital distal humeral dysplasia: a case report

    Energy Technology Data Exchange (ETDEWEB)

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

    2003-01-01

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

  2. Genetics Home Reference: Langer mesomelic dysplasia

    Science.gov (United States)

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

  3. Williams-Beuren Syndrome with Brain Dysplasia

    OpenAIRE

    J Gordon Millichap

    2013-01-01

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

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

    Directory of Open Access Journals (Sweden)

    Milad Rezvani

    2013-01-01

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

  5. Aggressive fibrous dysplasia of the maxillary sinus

    International Nuclear Information System (INIS)

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

  6. 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.

  7. CONGENITAL RADIAL DYSPLASIA: A CASE REPORT

    Directory of Open Access Journals (Sweden)

    Venkatram Reddy

    2015-08-01

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

  8. Capillary saturation and desaturation.

    Science.gov (United States)

    Hilfer, R; Armstrong, R T; Berg, S; Georgiadis, A; Ott, H

    2015-12-01

    Capillary desaturation experiments produce disconnected (trapped) ganglia of mesoscopic sizes intermediate between pore size and system size. Experimental evidence for interactions between these mesoscale clusters during desaturation is analyzed and discussed within the established microscopic and macroscopic laws of Newton, Young-Laplace, and Darcy. A theoretical expression for capillary number correlations is introduced that seems to have remained unnoticed. It expresses capillary desaturation curves in terms of stationary capillary pressures and relative permeabilities. The theoretical expression shows that the plateau saturation in capillary desaturation curves may in general differ from the residual nonwetting saturation defined through the saturation limit of the main hysteresis loop. Hysteresis effects as well as the difference between wetting and nonwetting fluids are introduced into the analysis of capillary desaturation experiments. The article examines experiments with different desaturation protocols and discusses the existence of a mesoscopic length scale intermediate between pore scale and sample scale. The theoretical expression is derived entirely within the existing traditional theory of two-phase flow in porous media and compared to a recent experiment. PMID:26764820

  9. Capillary saturation and desaturation

    Science.gov (United States)

    Hilfer, R.; Armstrong, R. T.; Berg, S.; Georgiadis, A.; Ott, H.

    2015-12-01

    Capillary desaturation experiments produce disconnected (trapped) ganglia of mesoscopic sizes intermediate between pore size and system size. Experimental evidence for interactions between these mesoscale clusters during desaturation is analyzed and discussed within the established microscopic and macroscopic laws of Newton, Young-Laplace, and Darcy. A theoretical expression for capillary number correlations is introduced that seems to have remained unnoticed. It expresses capillary desaturation curves in terms of stationary capillary pressures and relative permeabilities. The theoretical expression shows that the plateau saturation in capillary desaturation curves may in general differ from the residual nonwetting saturation defined through the saturation limit of the main hysteresis loop. Hysteresis effects as well as the difference between wetting and nonwetting fluids are introduced into the analysis of capillary desaturation experiments. The article examines experiments with different desaturation protocols and discusses the existence of a mesoscopic length scale intermediate between pore scale and sample scale. The theoretical expression is derived entirely within the existing traditional theory of two-phase flow in porous media and compared to a recent experiment.

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

    NARCIS (Netherlands)

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

    2002-01-01

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

  11. Alveolar hypoventilation treated with medroxyprogesterone.

    OpenAIRE

    Milerad, J; Lagercrantz, H.; Löfgren, O

    1985-01-01

    Two children aged 1 and 20 months developed alveolar hypoventilation syndrome. They suffered severe apnoeic episodes and periodically required assisted ventilation. Their ventilatory response to carbon dioxide was lower than that of normal children and the transcutaneous oxygen tension during sleep was well below the normal range. Treatment with medroxyprogesterone acetate resulted in an improved response to carbon dioxide, and assisted ventilation was no longer needed. Oxygen and carbon diox...

  12. Alveolar septal pulmonary amyloidosis: a case report

    International Nuclear Information System (INIS)

    Primary pulmonary amyloidosis is a rare diesase, and is classified as either tracheobronchial or parenchymal; the latter is also divided into nodular and diffuse alveolar septal forms. The alveolar septal form is extremely rare and usually produces reticular and nodular opacities. We describe a case of alveolar septal pulmonary amyloidosis manifested as multiple small nodules on chest radiograph and disseminated micronodules mainly in centrilobular and subpleural location without reticular opacities, on HRCT

  13. [Pulmonary alveolar microlithiasis: Report of one case].

    Science.gov (United States)

    Fernández F, Cristina; Salinas F, Mauricio; de Grazia K, José Andrés; Díaz P, Juan Carlos

    2014-05-01

    Pulmonary alveolar microlithiasis is an extremely rare disease characterized by intra-alveolar accumulation of calcified spherical particles (called microliths), due to a mutation of the gene encoding a membrane transport protein of the alveolar surface. Most patients are asymptomatic at diagnosis. The course of the disease is slowly progressive, with development of pulmonary fibrosis and respiratory failure. The "sandstorm" pattern is the characteristic finding of this disease. We report a 39-year-old female presenting with progressive dyspnea. A chest X ray showed ground-glass opacities and a high resolution CT scan showed numerous calcified lung micronodules. A surgical lung biopsy confirmed the diagnosis of pulmonary alveolar microlithiasis. PMID:25427025

  14. Fibrous dysplasia in axis treated with vertebroplasty

    Directory of Open Access Journals (Sweden)

    Kadir Kotil

    2010-01-01

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

  15. Perinatal lethal skeletal dysplasia: a case report

    Directory of Open Access Journals (Sweden)

    Sunita Dubey

    2016-01-01

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

  16. Fibrous dysplasia of bone: a clinicopathologic review

    Directory of Open Access Journals (Sweden)

    Mohan H

    2011-11-01

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

  17. Hip arthroscopy in the setting of hip dysplasia

    OpenAIRE

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

    2016-01-01

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

  18. How Capillary Rafts Sink

    CERN Document Server

    Protiere, S; Aristoff, J; Stone, H

    2010-01-01

    We present a fluid dynamics video showing how capillary rafts sink. Small objects trapped at an interface are very common in Nature (insects walking on water, ant rafts, bubbles or pollen at the water-air interface, membranes...) and are found in many multiphase industrial processes. Thanks to Archimedes principle we can easily predict whether an object sinks or floats. But what happens when several small particles are placed at an interface between two fluids. In this case surface tension also plays an important role. These particles self-assemble by capillarity and thus form what we call a "capillary raft". We show how such capillary rafts sink for varying sizes of particles and define how this parameter affects the sinking process.

  19. Frontometaphyseal dysplasia: evidence for autosomal dominant inheritance.

    Science.gov (United States)

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

    1976-12-01

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

  20. Management of the alveolar cleft.

    Science.gov (United States)

    Santiago, Pedro E; Schuster, Lindsay A; Levy-Bercowski, Daniel

    2014-04-01

    Orthopedic and orthodontic management of patients born with clefts of the lip, alveolus and palate is based on the application of basic biomechanical principles adapted to the individualized cleft anatomy. This article focuses on orthopedic and orthodontic preparation for 2 stages of interdisciplinary orthodontic/surgical cleft care: presurgical infant orthopedics (nasoalveolar molding) for lip/alveolus/nasal surgical repair and maxillary arch preparation for secondary alveolar bone grafting. These preparatory stages of orthopedic/orthodontic therapy are undertaken with the goal of restoring normal anatomic relationships to assist the surgeon in providing the best possible surgical care. PMID:24607190

  1. Oral rehabilitation of a patient with ectodermal dysplasia with prosthodontics treatment

    Directory of Open Access Journals (Sweden)

    Srinivas Nallanchakrava

    2013-01-01

    Full Text Available Ectodermal dysplasia (ED is a rare, congenital disease that involves the sweat glands, scalp hair, nails, skin pigmentation, and craniofacial structure. Oral symptoms of ED include multiple tooth abnormalities (such as hypodontia, anadontia, impacted teeth, and peg-shaped or conical anterior teeth and lack of normal alveolar ridge development. A 12-year-old male patient, in the absence of any other systemic abnormalities, exhibited typical characteristics of ED, visited our department of pedodontics and preventive dentistry at Panineeya Mahavidyalaya Institute of Dental Sciences and Research Centre. In the clinical and radiographic evaluation, it was occurred that he had only maxillary and mandibular first molars in his mouth. A maxillary and mandibular denture with clasps for retention was fabricated for prosthodontic rehabilitation after considering his growth and the number and condition of his present teeth. At the 18-month follow-up no major complications occurred and further future treatment included implants retained fixed partial dentures.

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

    Science.gov (United States)

    Kolb, A; Windhager, R; Chiari, C

    2015-11-01

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

  3. Occipital projections in the skeletal dysplasias

    International Nuclear Information System (INIS)

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

  4. 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.).

  5. Computed tomographic imaging of pulmonary alveolar proteinosis

    International Nuclear Information System (INIS)

    Pulmonary alveolar proteinosis is a rare disease of uncertain etiology. The computed tomographic image is characterized by geographically sharply delineated alveolar infiltrates, faint, ground-glass-like parenchymal turbidity, with well bordered interstitial structures and recesses in the subpleural space. (orig.)

  6. CT quantification of pulmonary alveolar microlithiasis

    International Nuclear Information System (INIS)

    Pulmonary alveolar microlithiasis is a rare, familial disease with massive symmetrical intra-alveolar calcium deposition. Conventional CT findings and CT measurements with a dual energy technique were carried out in a 26-year-old patient suffering from this disease. The importance of the findings in the differential diagnosis and for estimating the progression and prognosis of the disease is discussed. (orig.)

  7. Pulmonary alveolar microlithiasis in children

    Energy Technology Data Exchange (ETDEWEB)

    Schmidt, H. [Center of Diagnostic Radiology, Frankfurt Univ. (Germany); Loercher, U. [Center of Diagnostic Radiology, Frankfurt Univ. (Germany); Kitz, R. [Center of Pediatrics, Frankfurt Univ. (Germany); Zielen, S. [Center of Pediatrics, Frankfurt Univ. (Germany); Ahrens, P. [Center of Pediatrics, Frankfurt Univ. (Germany); Koenig, R. [Inst. of Human Genetics, Frankfurt Univ. (Germany)

    1996-01-01

    Two asymptomatic Turkish sibs are presented, a 4-year-old boy and his 7-year-old sister, with pulmonary alveolar microlithiasis (PAM) confirmed by transbronchial lung biopsy and bronchoalveolar lavage. Chest radiographs and high resolution CT demonstrated wide-spread intra-alveolar calcifications in both lungs. The lesions were sharply defined and less than 1 mm in diameter. CT documented a high concentration of microliths along the bronchovascular bundles, the intralobular fissue and the (sub)pleural lung parenchyma. The combination of bronchoalveolar lavage and roentgenographic appearance in high resolution CT are characteristic and pathognomonic, and can confirm the diagnosis. The more severe changes in the elder sib and the radiographic controls suggest that the pulmonary disease may be progressive in our patients. The described family of consanguineous, unaffected parents with two affected and one healthy child confirmed the autosomal recessive inheritance of PAM (McKusick 265100). In addition, the affected girl had autosomal recessive Waardenburg-anophthalmia syndrome (McKusick 206920), raising the question of whether this is a chance occurrence or possibly a contiguous gene syndrome. (orig.)

  8. Pulmonary alveolar microlithiasis in children

    International Nuclear Information System (INIS)

    Two asymptomatic Turkish sibs are presented, a 4-year-old boy and his 7-year-old sister, with pulmonary alveolar microlithiasis (PAM) confirmed by transbronchial lung biopsy and bronchoalveolar lavage. Chest radiographs and high resolution CT demonstrated wide-spread intra-alveolar calcifications in both lungs. The lesions were sharply defined and less than 1 mm in diameter. CT documented a high concentration of microliths along the bronchovascular bundles, the intralobular fissue and the (sub)pleural lung parenchyma. The combination of bronchoalveolar lavage and roentgenographic appearance in high resolution CT are characteristic and pathognomonic, and can confirm the diagnosis. The more severe changes in the elder sib and the radiographic controls suggest that the pulmonary disease may be progressive in our patients. The described family of consanguineous, unaffected parents with two affected and one healthy child confirmed the autosomal recessive inheritance of PAM (McKusick 265100). In addition, the affected girl had autosomal recessive Waardenburg-anophthalmia syndrome (McKusick 206920), raising the question of whether this is a chance occurrence or possibly a contiguous gene syndrome. (orig.)

  9. Capillary electrophoresis - electrospray ionization mass spectrometry in small diameter capillaries

    Energy Technology Data Exchange (ETDEWEB)

    Wahl, J.H.; Goodlett, D.R.; Udseth, H.R.; Smith, R.D.

    1992-06-01

    Methods (such as small inner diameter capillaries) are being explored to increase analyte sensitivity in capillary electrophoresis- electrospray ionization/mass spectroscopy(CE-ESI/MS). Results are reported for melittin in a protein mixture, with 10 to 100 {mu}m ID capillaries; and for a mixture of aprotinin, cytochrome c, myoglobin, and carbonic anhydrase, with 5 to 50 {mu}m ID capillaries. It is shown that an increase in solute sensitivity occurs when small ID capillaries ({lt} 20 {mu}m) are used in CE-ESI/MS for both a peptide and a protein mixture. 3 figs. (DLC)

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

    International Nuclear Information System (INIS)

    Aim: To prove that bilateral hereditary micro-epiphyseal dysplasia (BHMED), first described by Elsbach in 1959, is a distinct disorder radiologically as well as clinically, compared with multiple epiphyseal dysplasia (MED). Material and Methods: We used the data of the revised pedigree with 84 family members, performed a medical history, physical examination and made a radiological evaluation for defining a clinical and radiological phenotype of BHMED family members. We used blood samples for genetic analysis. Results: Although there is a clear clinical picture of the dysplasia, the radiological signs are more reliable for making the diagnosis. Especially the typical deformity of the hip and knee joint are diagnostic for BHMED. By linkage analysis we excluded linkage with the three known MED-loci (EDM1, EDM2 and EDM3). Conclusion: BHMED is indeed an entity that is distinct from common multiple epiphyseal dysplasia (MED), clinically, as well as radiologically and genetically. (orig.)

  11. Reduction of pulmonary capillary blood volume in patients with severe unexplained pulmonary hypertension.

    OpenAIRE

    Borland, C.; Cox, Y.; Higenbottam, T

    1996-01-01

    BACKGROUND: Unexplained or primary pulmonary hypertension results in an obliteration and obstruction of resistance pulmonary arteries. In these patients gas exchange is impaired and the measurement of gas transfer for carbon monoxide is usually reduced. This has been thought to represent a reduction in pulmonary alveolar capillary blood volume (Vc). A single breath test, measuring simultaneously the uptake of both nitric oxide (NO) and carbon monoxide (CO), provides a simple and practical mea...

  12. Screening for developmental dysplasia of the hip

    NARCIS (Netherlands)

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

    1998-01-01

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

  13. MR findings of the osteofibrous dysplasia

    Energy Technology Data Exchange (ETDEWEB)

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

    2014-02-15

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

  14. MR findings of the osteofibrous dysplasia

    International Nuclear Information System (INIS)

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

  15. Epileptogenicity of Cortical Dysplasias and Tumors

    Directory of Open Access Journals (Sweden)

    J Gordon Millichap

    2009-12-01

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

  16. 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.

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

    Science.gov (United States)

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

    1992-05-01

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

  18. Multicystic renal dysplasia: a diagnostic dilemma.

    Science.gov (United States)

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

    2011-01-01

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

  19. Melorheostosis - a rare dysplasia of the bones

    International Nuclear Information System (INIS)

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

  20. Williams-Beuren Syndrome with Brain Dysplasia

    Directory of Open Access Journals (Sweden)

    J Gordon Millichap

    2013-10-01

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

  1. Recurrent Monostotic Fibrous Dysplasia in the Mandible

    Directory of Open Access Journals (Sweden)

    Nilton Alves

    2016-01-01

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

  2. Predicting diffusive alveolar oxygen transfer from carbon monoxide-diffusing capacity in exercising foxhounds

    OpenAIRE

    Hsia, Connie C. W.; Wagner, Peter D.; Dane, D. Merrill; Wagner, Harrieth E.; Johnson, Robert L.

    2008-01-01

    Although lung diffusing capacity for carbon monoxide (DlCO) is a widely used test of diffusive O2 transfer, few studies have directly related DlCO to O2-diffusing capacity (DlO2); none has used the components of DlCO, i.e., conductance of alveolar membrane and capillary blood, to predict DlO2 from rest to exercise. To understand the relationship between DlCO and DlO2 at matched levels of cardiac output, we analyzed cumulative data from rest to heavy exercise in 43 adult dogs, with normal lung...

  3. Effects of smoking on resorption of the residual alveolar ridges in complete denture wearers

    Directory of Open Access Journals (Sweden)

    Marković Dubravka

    2003-01-01

    Full Text Available Introduction Based on literature data it is obvious that there is a connection between smoking and periodontal diseases. Alveolar bone loss increases with smoking. Tobacco smoking affects the proportion of subgingival bacterial flora by influencing oxidoreduction potential of dental plaque and thus making conditions for development of anaerobic bacteria. According to some researchers, smoking affects the mineral component of bone tissue. Orthopantomograms show higher level of alveolar bone loss in smokers than in nonsmokers with the same level of oral hygiene. The aim of this study was to establish if smoking affects alveolar bone loss in complete denture wearers. Material and methods Our clinical investigation included 60 patients of both sexes (30 smokers and 30 nonsmokers all complete dentures wearers. All patients met study criteria: jaw relation and smokers who smoke over 20 cigarettes per day. All subjects were interviewed, and after that orthopantomograms were made. They were used to calculate the degree of alveolar bone loss. Results The examined subjects were approximately of the same age. Mean age of smokers was 59.9 and nonsmokers 61.8. It was established that differences regarding resorption in men were not significant. The degree of resorption in women smokers and women nonsmokers was different, but differences were not significant. Discussion It has been proven that the number of cigarettes smoked per day is very important. It is considered that the risk of oral epithelial dysplasia increases when smoking more than 20 cigarettes per day. Considering our results regarding resorption of edentulous alveolar ridge in smokers and nonsmokers, we concluded that there were no significant differences. There are opinions in literature that smoking is not an etiological factor in resorption, but there are some opinions that smoking is connected with the degree of resorption in periodontium. The analyses of resorptive changes in edentulous

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

    Science.gov (United States)

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

    2012-04-15

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

  5. A case of pulmonary alveolar microlithiasis

    International Nuclear Information System (INIS)

    A case of pulmonary alveolar microlithiasis is reported. A 33-year-old male visited our clinic because of cough and sore throat. The chest X-ray showed granular micronodulation diffusely disseminated throughout the lung fields. On the eighth day since admission, cough and sore throat disappeared. Pulmonary alveolar microlithiasis was confirmed by transbronchial lung biopsy. Bronchoalveolar lavage (BAL) was performed, and the differential cell count of the BAL fluid showed 74.3 % eosinophilia. Furthermore, 67Ga-citrate scintigraphy revealed diffuse uptake throughout the lung fields. Whether these findings are common in pulmonary alveolar microlithiasis or not is considered to be an unanswered problem. (author)

  6. Rare Lung Diseases II: Pulmonary Alveolar Proteinosis

    OpenAIRE

    Juvet, Stephen C; David Hwang; Waddell, Thomas K; Downey, Gregory P.

    2008-01-01

    The present article is the second in a series on rare lung diseases. It focuses on pulmonary alveolar proteinosis (PAP), a disorder in which lipoproteinaceous material accumulates in the alveolar space. PAP was first described in 1958, and for many years the nature of the material accumulating in the lungs was unknown. Major insights into PAP have been made in the past decade, and these have led to the notion that PAP is an autoimmume disorder in which autoantibodies interfere with signalling...

  7. The Molecular Basis of Pulmonary Alveolar Proteinosis

    OpenAIRE

    Carey, Brenna; Trapnell, Bruce C.

    2010-01-01

    Pulmonary alveolar proteinosis (PAP) comprises a heterogenous group of diseases characterized by abnormal surfactant accumulation resulting in respiratory insufficiency, and defects in alveolar macrophage- and neutrophil-mediated host defense. Basic, clinical and translational research over the past two decades have raised PAP from obscurity, identifying the molecular pathogenesis in over 90% of cases as a spectrum of diseases involving the disruption of GM-CSF signaling. Autoimmune PAP repre...

  8. Pulmonary alveolar proteinosis: diagnostic and therapeutic challenges

    OpenAIRE

    Campo Ilaria; Kadija Zamir; Mariani Francesca; Paracchini Elena; Rodi Giuseppe; Mojoli Francesco; Braschi Antonio; Luisetti Maurizio

    2012-01-01

    Abstract Pulmonary Alveolar Proteinosis (PAP) is a rare syndrome characterized by pulmonary surfactant accumulation within the alveolar spaces. It occurs with a reported prevalence of 0.1 per 100,000 individuals and in distinct clinical forms: autoimmune (previously referred to as the idiopathic form, represents the vast majority of PAP cases, and is associated with Granulocyte-Macrophage Colony Stimulating Factor (GM-CSF) auto-antibodies; GMAbs), secondary (is a consequence of underlying dis...

  9. A case report of pulmonary alveolar proteinosis

    OpenAIRE

    McDermott, Helen; Aitchison, Frances; Nathani, Nazim; Bhatnager, Anjali

    2009-01-01

    This is a case of pulmonary alveolar proteinosis that presented in an inner city hospital in Birmingham, UK. The patient was a previously well 42-year-old man, who went on to experience unusual cerebral complications of the disease. The presentation, imaging findings and diagnostic histology findings are described. Pulmonary alveolar proteinosis is a rare but important diagnosis. Characteristic high-resolution CT findings include diffuse ground glass density with superimposed interlobular sep...

  10. Toward Therapeutic Pulmonary Alveolar Regeneration in Humans

    OpenAIRE

    Massaro, Donald; Massaro, Gloria DeCarlo

    2006-01-01

    In humans, age results in loss of pulmonary alveoli; menopause accelerates loss of diffusing capacity, an index of alveolar surface area; and disease (e.g., chronic obstructive pulmonary disease) results in loss of alveoli. Thus, an important goal for investigators is to generate knowledge that allows induction of pulmonary alveolar regeneration in humans. Our enthusiasm for this goal and our assessment of its feasibility are based on work in several laboratories over the last decade that has...

  11. Lung Transplant Recipient with Pulmonary Alveolar Proteinosis

    OpenAIRE

    Tokman, Sofya; Hahn, M. Frances; Abdelrazek, Hesham; Panchabhai, Tanmay S.; Patel, Vipul J.; Walia, Rajat; Omar, Ashraf

    2016-01-01

    Pulmonary alveolar proteinosis (PAP) is a progressive lung disease characterized by accumulated surfactant-like lipoproteinaceous material in the alveoli and distal bronchioles. This accumulation is the result of impaired clearance by alveolar macrophages. PAP has been described in 11 solid organ transplant recipients, 9 of whom were treated with mammalian target of rapamycin inhibitors. We report a case of a lung transplant recipient treated with prednisone, mycophenolate mofetil (MMF), and ...

  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. The...

  13. Remodeling of alveolar septa after murine pneumonectomy.

    Science.gov (United States)

    Ysasi, Alexandra B; Wagner, Willi L; Bennett, Robert D; Ackermann, Maximilian; Valenzuela, Cristian D; Belle, Janeil; Tsuda, Akira; Konerding, Moritz A; Mentzer, Steven J

    2015-06-15

    In most mammals, removing one lung (pneumonectomy) results in the compensatory growth of the remaining lung. In mice, stereological observations have demonstrated an increase in the number of mature alveoli; however, anatomic evidence of the early phases of alveolar growth has remained elusive. To identify changes in the lung microstructure associated with neoalveolarization, we used tissue histology, electron microscopy, and synchrotron imaging to examine the configuration of the alveolar duct after murine pneumonectomy. Systematic histological examination of the cardiac lobe demonstrated no change in the relative frequency of dihedral angle components (Ends, Bends, and Junctions) (P > 0.05), but a significant decrease in the length of a subset of septal ends ("E"). Septal retraction, observed in 20-30% of the alveolar ducts, was maximal on day 3 after pneumonectomy (P alveolar duct diameter ratio (Dout:Din) was significantly lower 3 days after pneumonectomy compared to all controls except for the detergent-treated lung (P surface tension within the alveolar duct, resulting in a new equilibrium at a higher total energy and lower surface area. The spatial and temporal association of these microstructural changes with postpneumonectomy lung growth suggests that these changes represent an early phase of alveolar duct remodeling. PMID:26078396

  14. Particulate concentrations in pulmonary alveolar proteinosis

    Energy Technology Data Exchange (ETDEWEB)

    McEuen, D.D.; Abraham, J.L. (Univ. of California, San Diego, La Jolla (USA))

    1978-12-01

    Quantitative birefringent particle counts per 10 high-power fields in lung tissue were correlated with age, sex, and occupational exposure in 37 cases of pulmonary alveolar proteinosis. Counts were significantly higher in pulmonary alveolar proteinosis cases in both regions of alveolar proteinosis (47 {plus minus} 11) and perivascular and peribronchiolar areas (dust retention areas) (275 {plus minus} 65) than in 13 controls (5 {plus minus} 3 and 79 {plus minus} 23, respectively). Of a total of 8619 particles, 4817 were less than 1 micron, and 3771 were 1 to 10 microns in diameter. Fifty-nine percent were round, 19% fibrous, and 22% irregular. When analyzed individually, 20 of 37 cases (78%) had alveolar particle counts significantly higher than controls, and 10 of 26 cases had dust-retention area counts greater than controls (P less than 0.050). Known or possible occupational exposure was ascertained in 13 cases. In the remaining 24 cases insufficient occupational information was available. The mean age of the pulmonary alveolar proteinosis patients was 33 {plus minus} 4 years, and of the controls, 40 {plus minus} 7 years, and there was a male-to-female ratio of approximately 3:1. We propose that many cases of pulmonary alveolar proteinosis will ultimately be shown to be associated with environmental exposures to fine dusts or fumes.

  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. Ectrodactyly-ectodermal dysplasia-cleft lip and palate syndrome

    OpenAIRE

    Reema Sharma Dhar; Amitava Bora

    2014-01-01

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

  17. Total hip replacement in young adults with hip dysplasia

    OpenAIRE

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

    2011-01-01

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

  18. Hip arthroscopy in the setting of hip dysplasia

    Science.gov (United States)

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

    2016-01-01

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

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

    OpenAIRE

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

    2013-01-01

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

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

    Science.gov (United States)

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

    1977-06-24

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

  1. Frequency of Developmental Hip Dysplasia in a Training Hospital

    OpenAIRE

    Emrah Can; İlhan Asya Tanju; Cihan Meral

    2010-01-01

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

  2. Malignant transformation of fibrous dysplasia into chondroblastic osteosarcoma

    International Nuclear Information System (INIS)

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

  3. Capillary permeability in adipose tissue

    DEFF Research Database (Denmark)

    Paaske, W P; Nielsen, S L

    1976-01-01

    A method for measurement of capillary permeability using external registration of gamma emitting isotopes after close arterial bolus injection was applied to the isolated inguinal fat pad in slightly fasting rabbits. An average extraction of 26 per cent for 51Cr-EDTA was found at a plasma flow of...... about 7 ml/100 g-min. This corresponds to a capillary diffusion capacity of 2.0 ml/100 g-min which is half the value reported for vasodilated skeletal muscle having approximately twice as great capillary surface area. Thus, adipose tissue has about the same capillary permeability during slight metabolic...

  4. 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.)

  5. Radicular Dentin Dysplasia Associated with Enamel Hypoplasia

    International Nuclear Information System (INIS)

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

  6. Hereditary mucoepithelial dysplasia and severe respiratory distress

    OpenAIRE

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

    2015-01-01

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

  7. Pulmonary Hemosiderosis in Children with Bronchopulmonary Dysplasia

    OpenAIRE

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

    2014-01-01

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

  8. Epilepsy, Acquired Aphasia with Focal Cortical Dysplasia

    Directory of Open Access Journals (Sweden)

    Girija A.S

    1999-01-01

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

  9. Cleidocranial Dysplasia with Autosomal Dominant Inheritance Pattern

    OpenAIRE

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

    2014-01-01

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

  10. Geleophysic dysplasia: Report on two sibs

    Directory of Open Access Journals (Sweden)

    Raquel Boy

    1998-03-01

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

  11. Histogenesis of retinal dysplasia in trisomy 13

    OpenAIRE

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

    2007-01-01

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

  12. Coronary Artery Manifestations of Fibromuscular Dysplasia

    OpenAIRE

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

    2014-01-01

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

  13. Color Doppler imaging of cervicocephalic fibromuscular dysplasia

    OpenAIRE

    Grzyska Ulrich; Arning Christian

    2004-01-01

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

  14. Invasive treatment for carotid fibromuscular dysplasia

    OpenAIRE

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

    2015-01-01

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

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

    OpenAIRE

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

    2014-01-01

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

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

    International Nuclear Information System (INIS)

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

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

    Science.gov (United States)

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

    2015-03-01

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

  18. Monostotic fibrous dysplasia of the lumbar spine.

    Science.gov (United States)

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

    2000-01-01

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

  19. Tapered capillary optics

    Science.gov (United States)

    Hirsch, Gregory

    1998-01-01

    A metal or glass wire is etched with great precision into a very narrowly tapering cone which has the shape of the desired final capillary-optics bore. By controlling the rate of removal of the wire from an etchant bath, a carefully controlled taper is produced. A sensor measures the diameter of the wire as it leaves the surface of the etchant. This signal is used for feedback control of the withdrawal speed. The etched wire undergoes a treatment to produce an extremely low surface-roughness. The etched and smoothed wire is coated with the material of choice for optimizing the reflectivity of the radiation being focused. This could be a vacuum evaporation, sputtering, CVD or aqueous chemical process. The coated wire is either electroplated, built up with electroless plating, or encapsulated in a polymer cylinder such as epoxy to increase the diameter of the wire for easier handling and greater robustness. During this process, the wire is vertically oriented and tensioned to assure that the wire is absolutely straight. The coated and electroformed wire is bonded to a flat, rigid substrate and is then periodically segmented by cutting or etching a series of narrow slits or grooves into the wire. The wire is vertically oriented and tensioned during the bonding process to assure that it is straight. The original wire material is then chemically etched away through the slits or otherwise withdrawn to leave the hollow internal bore of the final tapered-capillary optical element.

  20. Perawatan Ortodontik Gigi Anterior Berjejal dengan Tulang Alveolar yang Tipis

    Directory of Open Access Journals (Sweden)

    Miesje K. Purwanegara

    2015-09-01

    Full Text Available Anterior teeth movement in orthodontic treatment is limited to labiolingual direction by very thin alveolar bone. An uncontrolled anterior tooth movement to labiolingual direction can cause alveolar bone perforation at its root segment. This case report is to remind us that alveolar bone thickness limits orthodontc tooth movement. A case of crowded anterior teeth with thin alveolar bone in malocclusion I is reported. This case is treated using adgewise orthodontic appliance. Protraction of anterior teeth is anticipated due to thin alveolar bone on the anterior surface. The conclusion is although the alveolar bone surrounding the crowded anterior teeth is thin, by controlling the movement the teeth reposition is allowed.

  1. Orthopantomographic study of the alveolar bone level on periodontal disease

    International Nuclear Information System (INIS)

    The author had measured the alveolar bone level of periodontal disease on 50 cases of orthopantomogram to detect the degree of alveolar bone resorption of both sexes of Korean. The results were obtained as follows; 1. Alveolar bone resorption of mesial and distal portion was similar in same patient. 2. The order of alveolar bone resorption was mandibular anterior region, posterior region, canine and premolar region of both jaws. 3. The degree of alveolar bone destruction was severe in shorter root length than longer one. 4. The degree of alveolar bone resorption was severe in fourth decades.

  2. Biomedical applications of capillary electrophoresis

    Science.gov (United States)

    Kartsova, L. A.; Bessonova, E. A.

    2015-08-01

    The review deals with modern analytical approaches used in capillary electrophoresis for solving medical and biological problems: search for biomarkers of various diseases and rapid diagnosis based on characteristic profiles of biologically active compounds by capillary electrophoresis with mass spectrometric detection; monitoring of the residual drugs in biological fluids for evaluating the efficiency of drug therapy; testing of the enantiomeric purity of pharmaceutical products; the use of novel materials as components of stationary and pseudo-stationary phases in capillary electrophoresis and capillary electrochromatography to increase the selectivity of separation of components of complex matrices; and identification of various on-line preconcentration techniques to reduce the detection limits of biologically active analytes. A topical trend in capillary electrophoresis required in clinical practice, viz., the design of microfluidic systems, is discussed. The bibliography includes 173 references.

  3. Capillary optics for radiation focusing

    International Nuclear Information System (INIS)

    Capillary lens technology may ultimately bring benefits to neutron and x-ray-based science like conventional lenses with visible light. Although the technology is not yet 10 years old, these lenses have already had a significant impact in engineering, science, and medicine. Capillary lenses are advantageous when it is desirable to increase the radiation flux at a location without regard to its angular divergence. PNNL has worked to improve the technology in several ways. A single, optimally tapered capillary was manufactured, which allows intensity gains of a factor of 270 for an initially parallel, incident x-ray beam. Feasibility of constructing neutron lenses using 58Ni (particularly effective at reflecting neutrons) has been explored. Three applications for capillary optics have been identified and studied: neutron telescope, Gandolphi x-ray diffractometry, and neutron radiotherapy. A brief guide is given for determining which potential applications are likely to be helped by capillary optics

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

    OpenAIRE

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

    1992-01-01

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

  5. 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.

  6. Marfan syndrome with multiseptate pneumothorax and mandibular fibrous dysplasia

    OpenAIRE

    Kate A; Gothi D; Joshi J

    2009-01-01

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

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

    Science.gov (United States)

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

    2012-12-01

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

  8. Whole saliva in X-linked hypohidrotic ectodermal dysplasia

    DEFF Research Database (Denmark)

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

    2007-01-01

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

  9. Advances in capillary electrophoresis

    International Nuclear Information System (INIS)

    In the 1980s, capillary electrophoresis (CE) developed rapidly into a first-class analytical separation technique. Its advances in instru-mentation and method development will not only enhance or complement existing mature separation techniques such as liquid chromatography and conventional slab gel electrophoresis, but will also severely challenge these separation methods. A brief overview of most striking achievement of CE in the 1980s is given, which illustrates the challenge to liquid chromatography and conventional slab gel electrophoresis, and some detailed discussions are presented to highlight the advantages of CE. New developments in CE that can be expected for the 1990s include especially column technology, separation chemistry and instrumentation, which will serve further to diversify and improve the applicability of this technique in areas which are poorly addressed by other separation methods. This paper considers and speculates on the technological advancements that can be expected to emerge for CE in the 1990s. (author). 95 refs.; 14 figs

  10. 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.)

  11. Alveolar rhabdomyosarcoma in children with histomorphological review

    Directory of Open Access Journals (Sweden)

    S. K. Nema

    2014-04-01

    Full Text Available Rhabdomyosarcomas (RMS are aggressive malignant neoplasm of mesenchymal origin, related to skeletal muscle lineage. These are the most common soft tissue tumors in children. The diagnosis is made by microscopic analysis and ancillary techniques like immunohistochemistry, electron microscopy, cytogenetics and molecular biology. We encountered a case of a 03 years old child who presented with a tender, reddish, soft swelling over cheek for three weeks. The FNAC was reported as a small round cell tumor, Probably Primitive Neuroectodermal Tumor (PNET. The biopsy of tumor revealed a small round cell tumor with an alveolar pattern. Tumor giant cells were absent and mitotic figures were infrequent. Hence, differentials of alveolar rhabdomyosarcoma and PNET were rendered. Immunohistochemistry (IHC demonstrated desmin positivity. Thus, a final diagnosis of alveolar rhabdomyosarcoma was offered. [Int J Res Med Sci 2014; 2(2.000: 775-778

  12. Whole lung lavage for pulmonary alveolar proteinosis

    Directory of Open Access Journals (Sweden)

    Jayaraman S

    2010-01-01

    Full Text Available A 26-year-old male presented with complaints of dry cough of six months and progressive breathlessness of three months duration. He was coughing out milky white sputum for two months and had lost 12 kg weight in two months. He had an evening rise in temperature of one month duration. Clinically, the patient was in respiratory distress and the respiratory system examination revealed bilateral velcro crackles. High resolution computed tomography chest showed bilateral diffuse reticulonodular opacities and "Crazy Paving" pattern suggestive of alveolar proteinosis. Broncho alveolar lavage showed eosinophilic granular material, which was periodic acid-Schiff positive. Open lung biopsy was done to confirm the diagnosis and the histopathologic examination revealed eosinophilic secretions with granular appearance suggestive of pulmonary alveolar proteinosis. Subsequently, patient underwent bilateral sequential whole lung lavage under general anesthesia. Patient showed marked clinical and radiological improvement after sequential whole lung lavage.

  13. Lateralization Technique and Inferior Alveolar Nerve Transposition

    Science.gov (United States)

    Sanches, Marco Antonio; Ramalho, Gabriel Cardoso; Manzi, Marcello Roberto

    2016-01-01

    Bone resorption of the posterior mandible can result in diminished bone edge and, therefore, the installation of implants in these regions becomes a challenge, especially in the presence of the mandibular canal and its contents, the inferior alveolar nerve. Several treatment alternatives are suggested: the use of short implants, guided bone regeneration, appositional bone grafting, distraction osteogenesis, inclined implants tangential to the mandibular canal, and the lateralization of the inferior alveolar nerve. The aim was to elucidate the success rate of implants in the lateralization technique and in inferior alveolar nerve transposition and to determine the most effective sensory test. We conclude that the success rate is linked to the possibility of installing implants with long bicortical anchor which favors primary stability and biomechanics. PMID:27433360

  14. Lung ventilation injures areas with discrete alveolar flooding, in a surface tension-dependent fashion.

    Science.gov (United States)

    Wu, You; Kharge, Angana Banerjee; Perlman, Carrie E

    2014-10-01

    With proteinaceous-liquid flooding of discrete alveoli, a model of the edema pattern in the acute respiratory distress syndrome, lung inflation over expands aerated alveoli adjacent to flooded alveoli. Theoretical considerations suggest that the overexpansion may be proportional to surface tension, T. Yet recent evidence indicates proteinaceous edema liquid may not elevate T. Thus whether the overexpansion is injurious is not known. Here, working in the isolated, perfused rat lung, we quantify fluorescence movement from the vasculature to the alveolar liquid phase as a measure of overdistension injury to the alveolar-capillary barrier. We label the perfusate with fluorescence; micropuncture a surface alveolus and instill a controlled volume of nonfluorescent liquid to obtain a micropunctured-but-aerated region (control group) or a region with discrete alveolar flooding; image the region at a constant transpulmonary pressure of 5 cmH2O; apply five ventilation cycles with a positive end-expiratory pressure of 0-20 cmH2O and tidal volume of 6 or 12 ml/kg; return the lung to a constant transpulmonary pressure of 5 cmH2O; and image for an additional 10 min. In aerated areas, ventilation is not injurious. With discrete alveolar flooding, all ventilation protocols cause sustained injury. Greater positive end-expiratory pressure or tidal volume increases injury. Furthermore, we determine T and find injury increases with T. Inclusion of either plasma proteins or Survanta in the flooding liquid does not alter T or injury. Inclusion of 2.7-10% albumin and 1% Survanta together, however, lowers T and injury. Contrary to expectation, albumin inclusion in our model facilitates exogenous surfactant activity. PMID:25080924

  15. Impairment of Alveolar Macrophage Transcription in Idiopathic Pulmonary Fibrosis

    OpenAIRE

    Ren, Ping; Rosas, Ivan O.; MacDonald, Sandra D.; Wu, Hai-Ping; Billings, Eric M; Gochuico, Bernadette R.

    2007-01-01

    Rationale: Alveolar macrophages are inflammatory cells that may contribute to the pathogenesis of idiopathic pulmonary fibrosis (IPF), which is characterized by excessive alveolar aggregation of cells and extracellular matrix proteins.

  16. Increased alveolar plasminogen activator in early asbestosis

    Energy Technology Data Exchange (ETDEWEB)

    Cantin, A.; Allard, C.; Begin, R.

    1989-03-01

    Alveolar macrophage-derived plasminogen activator (PA) activity is decreased in some chronic interstitial lung diseases such as idiopathic pulmonary fibrosis and sarcoidosis but increased in experimental models of acute alveolitis. Although asbestos fibers can stimulate alveolar macrophages (AM) to release PA in vitro, the effect of chronic asbestos exposure of the lower respiratory tract on lung PA activity remains unknown. The present study was designed to evaluate PA activity of alveolar macrophages and bronchoalveolar lavage (BAL) fluid in asbestos-exposed sheep and asbestos workers. Forty-three sheep were exposed to either 100 mg UICC chrysotile B asbestos in 100 ml phosphate-buffered saline (PBS) or to 100 ml PBS by tracheal infusion every 2 wk for 18 months. At Month 18, chest roentgenograms were analyzed and alveolar macrophage and extracellular fluid PA activity were measured in samples obtained by BAL. Alveolar macrophage PA activity was increased in the asbestos-exposed sheep compared to control sheep (87.2 +/- 17.3 versus 41.1 +/- 7.2 U/10(5) AM-24 h, p less than 0.05) as was the BAL fluid PA activity (674.9 +/- 168.4 versus 81.3 +/- 19.7 U/mg alb-24 h, p less than 0.01). Among the asbestos-exposed sheep, 10 had normal chest roentgenograms (Group SA) and 15 had irregular interstitial opacities (Group SB). Strikingly, whereas Group SA did not differ from the control group in BAL cellularity or PA activity, Group SB had marked increases in alveolar macrophages (p less than 0.005), AM PA activity (p less than 0.02), and BAL PA activity (p less than 0.001) compared to the control group.

  17. Hip osteoarthritis and dysplasia in Chinese men.

    OpenAIRE

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

    1995-01-01

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

  18. Oxygen Saturation Targeting and Bronchopulmonary Dysplasia.

    Science.gov (United States)

    Darlow, Brian A; Morley, Colin J

    2015-12-01

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

  19. Hereditary mucoepithelial dysplasia and severe respiratory distress

    Directory of Open Access Journals (Sweden)

    Mahmoud Halawa

    2015-01-01

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

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

    International Nuclear Information System (INIS)

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

  1. Tobacco smoke and the pulmonary alveolar macrophage.

    Science.gov (United States)

    Drath, D B; Davies, P; Karnovsky, M L; Huber, G L

    1979-01-01

    Our results indicate that tobacco smoke exposure to varying duration causes morphological, biochemical and functional alterations in pulmonary alveolar macrophages. The results of these changes is a population of alveolar macrophages made up of larger cells, with a reduced nucleus-cytoplasmic ratio, which are heavily loaded with heterolysosomes containing lipid. Though their fractional complement of mitochondria remains the same, an increase in the inner mitochondrial membrane surface area may be related to an enhanced oxidative metabolism. The cell is biochemically activated particularly following chronic exposure and is functionally impaired with respect to phagocytosis. PMID:232822

  2. Adenosine regulation of alveolar fluid clearance

    OpenAIRE

    Factor, Phillip; Mutlu, Göskhan M.; Chen, Lan; Mohameed, Jameel; Akhmedov, Alexander T.; Meng, Fan Jing; Jilling, Tamas; Lewis, Erin Rachel; Johnson, Meshell D.; Xu, Anna; Kass, Daniel; Martino, Janice M.; Bellmeyer, Amy; Albazi, John S.; Emala, Charles

    2007-01-01

    Adenosine is a purine nucleoside that regulates cell function through G protein-coupled receptors that activate or inhibit adenylyl cyclase. Based on the understanding that cAMP regulates alveolar epithelial active Na+ transport, we hypothesized that adenosine and its receptors have the potential to regulate alveolar ion transport and airspace fluid content. Herein, we report that type 1 (A1R), 2a (A2aR), 2b (A2bR), and 3 (A3R) adenosine receptors are present in rat and mouse lungs and alveol...

  3. Alveolar proteinosis: case report and literature review

    Directory of Open Access Journals (Sweden)

    2013-07-01

    Full Text Available Alveolar proteinosis is a rare disease. Its etiology, pathology, and manifestations are becoming increasingly more apparent. Few cases have been reported, which highlights the importance of reporting this case and reviewing current literature. New therapeutic options are being introduced with adequate outcomes thereby making it possible to manage patients who were previously unresponsive to conventional treatment. 25% of cases resolve spontaneously, while most patients require conventional treatment with total lung lavage that often does not improve prognosis. The case reported in this article was associated to Mycobacterium tuberculosis infection and diabetes. Primary alveolar proteinosis can have a direct relationship to these concomitant conditions.

  4. Lung Transplant Recipient with Pulmonary Alveolar Proteinosis

    Directory of Open Access Journals (Sweden)

    Sofya Tokman

    2016-01-01

    Full Text Available Pulmonary alveolar proteinosis (PAP is a progressive lung disease characterized by accumulated surfactant-like lipoproteinaceous material in the alveoli and distal bronchioles. This accumulation is the result of impaired clearance by alveolar macrophages. PAP has been described in 11 solid organ transplant recipients, 9 of whom were treated with mammalian target of rapamycin inhibitors. We report a case of a lung transplant recipient treated with prednisone, mycophenolate mofetil (MMF, and tacrolimus who ultimately developed PAP, which worsened when MMF was replaced with everolimus.

  5. Lung Transplant Recipient with Pulmonary Alveolar Proteinosis.

    Science.gov (United States)

    Tokman, Sofya; Hahn, M Frances; Abdelrazek, Hesham; Panchabhai, Tanmay S; Patel, Vipul J; Walia, Rajat; Omar, Ashraf

    2016-01-01

    Pulmonary alveolar proteinosis (PAP) is a progressive lung disease characterized by accumulated surfactant-like lipoproteinaceous material in the alveoli and distal bronchioles. This accumulation is the result of impaired clearance by alveolar macrophages. PAP has been described in 11 solid organ transplant recipients, 9 of whom were treated with mammalian target of rapamycin inhibitors. We report a case of a lung transplant recipient treated with prednisone, mycophenolate mofetil (MMF), and tacrolimus who ultimately developed PAP, which worsened when MMF was replaced with everolimus. PMID:27213073

  6. Iatrogenic injury to the inferior alveolar nerve

    DEFF Research Database (Denmark)

    Hillerup, Søren

    2008-01-01

    The purpose of this prospective, non-randomised, descriptive study is to characterise the neurosensory deficit and associated neurogenic discomfort in 52 patients with iatrogenic injury to the inferior alveolar nerve (IAN). All patients were examined and followed up according to a protocol...... injuries associated with third molar surgery, other dento-alveolar surgery or implant surgery occur sufficiently often to render prevention a key issue....... assessing tactile, thermal, and positional perception as well as two-point discrimination and pain. In 48 patients with IAN injuries of differing etiologies who did not undergo surgery, 32 patients with injury associated with third molar surgery exhibited significant spontaneous improvement of sensory...

  7. Blood Perfusion in Microfluidic Models of Pulmonary Capillary Networks: Role of Geometry and Hematocrit

    Science.gov (United States)

    Stauber, Hagit; Waisman, Dan; Sznitman, Josue; Technion-IIT Team; Department of Neonatology Carmel Medical Center; Faculty of Medicine-Technion IIT Collaboration

    2015-11-01

    Microfluidic platforms are increasingly used to study blood microflows at true physiological scale due to their ability to overcome manufacturing obstacle of complex anatomical morphologies, such as the organ-specific architectures of the microcirculation. In the present work, we utilize microfluidic platforms to devise in vitro models of the underlying pulmonary capillary networks (PCN), where capillary lengths and diameters are similar to the size of RBCs (~ 5-10 μm). To better understand flow characteristics and dispersion of red blood cells (RBCs) in PCNs, we have designed microfluidic models of alveolar capillary beds inspired by the seminal ``sheet flow'' model of Fung and Sobin (1969). Our microfluidic PCNs feature confined arrays of staggered pillars with diameters of ~ 5,7 and 10 μm, mimicking the dense structure of pulmonary capillary meshes. The devices are perfused with suspensions of RBCs at varying hematocrit levels under different flow rates. Whole-field velocity patterns using micro-PIV and single-cell tracking using PTV are obtained with fluorescently-labelled RBCs and discussed. Our experiments deliver a real-scale quantitative description of RBC perfusion characteristics across the pulmonary capillary microcirculation.

  8. Analysis of Capillary Rise in Asymmetric Branch-Like Capillary

    Science.gov (United States)

    Li, Caoxiong; Shen, Yinghao; Ge, Hongkui; Yang, Zhihui; Su, Shuai; Ren, Kai; Huang, Heyu

    2016-05-01

    Transport in porous media is common in nature, attracting many attentions for a long time. Tree-like network model is often used as a simplification for porous space, expressing the complexity of pore spaces instead of capillary bundle. To investigate spontaneous imbibition characteristics in this network, a dynamic asymmetric branch-like capillary model is used to represent basic network structure, using fractal method to represent tortuosity. This work investigates the influence of parameters on imbibition process in the branch-like capillary model. An analytical equation for the imbibition mass versus time is derived. Parameters from capillary structures to liquid properties are taken into account and analyzed based on the numerical solution of the equation. It is found that the imbibition process in asymmetric branch-like capillary model can be recognized by four sections and brunching tubes are positive for imbibition process. Concomitantly, meniscus arrest event is simulated and discussed. Moreover, the influence of parameters on imbibition process is discussed. These parameters can be classified as static and dynamic. Static parameters mainly change the capillary force, which are related to the ultimate imbibition mass or imbibition ability, while dynamic parameters mainly have influence on resistance of flowing fluid, which are related to the imbibition speed in the imbibition process.

  9. Arrhythmogenic right ventricular dysplasia: MRI findings

    International Nuclear Information System (INIS)

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

  10. A Case of Extensive polyostotic fibrous dysplasia

    Energy Technology Data Exchange (ETDEWEB)

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

    2000-06-15

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

  11. A Case of Extensive polyostotic fibrous dysplasia

    International Nuclear Information System (INIS)

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

  12. Mondini dysplasia; Clinical signs and diagnostic imaging

    Energy Technology Data Exchange (ETDEWEB)

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

    1992-12-01

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

  13. 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.

  14. Early Stages of Hyaline Membrane Formation Detected in Alveolar Mouths in Diffuse Alveolar-Damage-Associated Diseases: A Detailed Immunohistochemical Study.

    Science.gov (United States)

    Ohtsuki, Yuji; Fujita, Jiro; Yoshinouchi, Takeo; Enzan, Hideaki; Iguchi, Mitsuko; Lee, Gang-Hong; Furihata, Mutsuo

    2015-10-01

    To study the early stages of hyaline membrane (HM) formation, diffuse alveolar damage (DAD) was thoroughly investigated using immunohistochemical methods in 15 autopsy cases, which consisted of various types of interstitial pneumonias and pulmonary diseases derived from nonmalignant or malignant diseases. Alveolar mouths (AMs) that were presumed to be normal were ultrastructurally examined in detail, by using pulmonary tissues in the pneumothorax. It is interesting to note that during the initial stages of HM formation in AMs, fragmented eosinophilic masses were closely attached to AMs as irregular fragments or by a cap-like structure. The ultrastructure revealed some distance between the capillary spaces and surface epithelium of the AMs, indicating that the epithelial cells at the AMs might be often easily damaged even by minor stimuli; they can be considered as "locus minoris resistentiae." HMs were found to be formed initially at the site of AMs derived from fragmented eosinophilic masses in not only pulmonary but also extrapulmonary diseases, including both nonmalignant and malignant diseases. These irregular eosinophilic masses, representing the early shape of HMs, were immunohistochemically positive for the epithelial membrane antigens, namely, surfactant protein A and factor VIII antigen, and occasionally for KL-6 and cytokeratins. These results suggested that fragmented irregular masses represent the initial phase of HM formation. Five of 15 cases were focally negative for KL-6 at the initial irregular mass of HMs. Because KL-6 is one of the fundamental components of pulmonary surface elements, it needs to be studied further by detailed clinicopathological examination. PMID:26183849

  15. Surface Tension and Capillary Rise

    Science.gov (United States)

    Walton, Alan J.

    1972-01-01

    Discussion of the shortcomings of textbook explanations of surface tension, distinguishing between concepts of tension and capillary rise. The arguments require only a clear understanding of Newtonian mechanics, notably potential energy. (DF)

  16. Capillary Condensation in Confined Media

    CERN Document Server

    Charlaix, Elisabeth

    2009-01-01

    We review here the physics of capillary condensation of liquids in confined media, with a special regard to the application in nanotechnologies. The thermodynamics of capillary condensation and thin film adsorption are first exposed along with all the relevant notions. The focus is then shifted to the modelling of capillary forces, to their measurements techniques (including SFA, AFM and crack tips) and to their influence on AFM imaging techniques as well as on the static and dynamic friction properties of solids (including granular heaps and sliding nanocontacts). A great attention is spent in investigating the delicate role of the surface roughness and all the difficulties involved in the reduction of the probe size to nanometric dimensions. Another major consequence of capillary condensation in nanosystems is the activation of several chemical and corrosive processes that can significantly alter the surface properties, such as dissolution/redeposition of solid materials and stress-corrosion crack propagati...

  17. Capillary electrophoresis electrospray ionization mass spectrometry interface

    Science.gov (United States)

    Smith, Richard D.; Severs, Joanne C.

    1999-01-01

    The present invention is an interface between a capillary electrophoresis separation capillary end and an electrospray ionization mass spectrometry emitter capillary end, for transporting an anolyte sample from a capillary electrophoresis separation capillary to a electrospray ionization mass spectrometry emitter capillary. The interface of the present invention has: (a) a charge transfer fitting enclosing both of the capillary electrophoresis capillary end and the electrospray ionization mass spectrometry emitter capillary end; (b) a reservoir containing an electrolyte surrounding the charge transfer fitting; and (c) an electrode immersed into the electrolyte, the electrode closing a capillary electrophoresis circuit and providing charge transfer across the charge transfer fitting while avoiding substantial bulk fluid transfer across the charge transfer fitting. Advantages of the present invention have been demonstrated as effective in providing high sensitivity and efficient analyses.

  18. Selective alveolar corticotomy to intrude overerupted molars.

    Science.gov (United States)

    Oliveira, Dauro Douglas; de Oliveira, Bruno Franco; de Araújo Brito, Helio Henrique; de Souza, Margareth Maria Gomes; Medeiros, Paulo José

    2008-06-01

    Orthodontic intrusion of overerupted molars in adults is challenging for most clinicians. Efficient intrusion can be achieved by combining selective alveolar corticotomies with a modified full-coverage maxillary splint to reduce surgical risks, treatment time, and costs for both orthodontists and patients. PMID:18538256

  19. Rituximab therapy in pulmonary alveolar proteinosis improves alveolar macrophage lipid homeostasis

    OpenAIRE

    Malur Anagha; Kavuru Mani S; Marshall Irene; Barna Barbara P; Huizar Isham; Karnekar Reema; Thomassen Mary

    2012-01-01

    Abstract Rationale Pulmonary Alveolar Proteinosis (PAP) patients exhibit an acquired deficiency of biologically active granulocyte-macrophage colony stimulating factor (GM-CSF) attributable to GM-CSF specific autoantibodies. PAP alveolar macrophages are foamy, lipid-filled cells with impaired surfactant clearance and markedly reduced expression of the transcription factor peroxisome proliferator-activated receptor gamma (PPARγ) and the PPARγ-regulated ATP binding cassette (ABC) lipid transpor...

  20. Interactions of inhaled nanoparticles with the alveolar-capillary barrier of the human respiratory tract

    OpenAIRE

    Kasper, Jennifer Yvonne

    2011-01-01

    In dieser Arbeit wurden zytotoxische Effekte sowie die inflammatorische Reaktionen des distalen respiratorischen Traktes nach Nanopartikelexposition untersucht. Besondere Aufmerksamkeit lag auch auf der Untersuchung unterschiedlicher zellulärer Aufnahmewege von Nanopartikeln wie z.B. Clathrin- oder Caveolae-vermittelte Endozytose oder auch Clathrin- und Caveolae-unabhängige Endozytose (mit möglicher Beteiligung von Flotillinen). Drei unterschiedliche Nanopartikel wurden hierbei gewählt: amo...

  1. Secondary pulmonary alveolar proteinosis in hematologic malignancies.

    Science.gov (United States)

    Chaulagain, Chakra P; Pilichowska, Monika; Brinckerhoff, Laurence; Tabba, Maher; Erban, John K

    2014-12-01

    Pulmonary alveolar proteinosis (PAP), characterized by deposition of intra-alveolar PAS positive protein and lipid rich material, is a rare cause of progressive respiratory failure first described by Rosen et al. in 1958. The intra-alveolar lipoproteinaceous material was subsequently proven to have been derived from pulmonary surfactant in 1980 by Singh et al. Levinson et al. also reported in 1958 the case of 19-year-old female with panmyelosis afflicted with a diffuse pulmonary disease characterized by filling of the alveoli with amorphous material described as "intra-alveolar coagulum". This is probably the first reported case of PAP in relation to hematologic malignancy. Much progress has been made on PAP first described by Rosen which is currently classified as idiopathic or primary or autoimmune PAP. Idiopathic PAP occurs as a result of auto-antibodies directed against granulocyte-macrophage colony stimulating factor (GM-CSF) impeding the surfactant clearing function of alveolar macrophages leading to progressive respiratory failure. Whole lung lavage and GM-CSF therapy has improved outcomes in patients with idiopathic PAP. Despite major advancement in the management of hematologic malignancy and its complications, little is known about the type of PAP first described by Levinson and now known as secondary PAP; a term also used when PAP occurs due to other causes such as occupational dusts. In this article we review and analyze the limited literature available in secondary PAP due to hematologic malignancies and present a case of PAP associated with chronic lymphocytic leukemia successfully treated with bendamustine and rituximab. PMID:25300566

  2. 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.

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

    Science.gov (United States)

    Dhar, Reema Sharma; Bora, Amitava

    2014-01-01

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

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

    DEFF Research Database (Denmark)

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

    1995-01-01

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

  5. 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

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

    International Nuclear Information System (INIS)

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

  7. Geleophysic dysplasia associated with bilateral angle closure glaucoma

    Directory of Open Access Journals (Sweden)

    Murat Sinan Saricaoglu

    2013-01-01

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

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

    Science.gov (United States)

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

    2007-01-01

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

  9. 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.

  10. 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

  11. Ectodermal dysplasias: the p63 tail.

    Science.gov (United States)

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

    2013-02-01

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

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

    Science.gov (United States)

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

    2016-05-15

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

  13. 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.

  14. Oral rehabilitation of children with ectodermal dysplasia.

    Science.gov (United States)

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

    2012-01-01

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

  15. Cleidocranial dysplasia with autosomal dominant inheritance pattern.

    Science.gov (United States)

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

    2014-07-01

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

  16. PATHOLOGICAL AND MORPHOLOGICAL RESEARCH OF EXPERIMENTAL ACETABULAR DYSPLASIA

    Institute of Scientific and Technical Information of China (English)

    张自明; 马瑞雪; 吉士俊; 牛之彬

    2004-01-01

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

  17. Genetics Home Reference: CHST3-related skeletal dysplasia

    Science.gov (United States)

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

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

    Directory of Open Access Journals (Sweden)

    G. D. Rao

    2010-10-01

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

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

    NARCIS (Netherlands)

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

    2009-01-01

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

  20. Focal Cortical Dysplasia Type IIB and Human Papillomavirus

    Directory of Open Access Journals (Sweden)

    J. Gordon Millichap

    2013-03-01

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

  1. 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.

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

    Science.gov (United States)

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

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

    Science.gov (United States)

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

    1970-07-31

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

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

    Science.gov (United States)

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

    2006-01-01

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

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

    Directory of Open Access Journals (Sweden)

    Hamza Sucuoglu

    2016-02-01

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

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

    NARCIS (Netherlands)

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

    2005-01-01

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

  7. Systematic evaluation of bone dysplasias by the paediatric radiologist

    International Nuclear Information System (INIS)

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

  8. Genetics Home Reference: Schimke immuno-osseous dysplasia

    Science.gov (United States)

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

  9. Initial respiratory management in preterm infants and bronchopulmonary dysplasia

    Directory of Open Access Journals (Sweden)

    Ester Sanz López

    2011-01-01

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

  10. Computational micro-scale model of control of extravascular water and capillary perfusion in the air blood barrier.

    Science.gov (United States)

    Mazzuca, Enrico; Aliverti, Andrea; Miserocchi, Giuseppe

    2016-07-01

    A computational model of a morphologically-based alveolar capillary unit (ACU) in the rabbit is developed to relate lung fluid balance to mechanical forces between capillary surface and interstitium during development of interstitial edema. We hypothesize that positive values of interstitial liquid pressure Pliq impact on capillary transmural pressure and on blood flow. ACU blood flow, capillary recruitment and filtration are computed by modulating vascular and interstitial pressures. Model results are compared with experimental data of Pliq increasing from ~-10 (control) up to ~4cmH2O in two conditions, hypoxia and collagenase injection. For hypoxia exposure, fitting data requires a linear increase in hydraulic conductivity Lp and capillary pressure PC, that fulfils the need of increase in oxygen delivery. For severe fragmentation of capillary endothelial barrier (collagenase injection), fitting requires a rapid increase in both hydraulic and protein permeability, causing ACU de-recruitment, followed by an increase in PC as a late response to restore blood flow. In conclusion, the model allows to describe the lung adaptive response to edemagenic perturbations; the increase in Pliq, related to the low interstitial compliance, provides an efficient control of extravascular water, by limiting microvascular filtration. PMID:27059893

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

    Directory of Open Access Journals (Sweden)

    Alice Hadchouel

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

  12. Laser-based capillary polarimeter.

    Science.gov (United States)

    Swinney, K; Hankins, J; Bornhop, D J

    1999-01-01

    A laser-based capillary polarimeter has been configured to allow for the detection of optically active molecules in capillary tubes with a characteristic inner diameter of 250 microm and a 39-nL (10(-9)) sample volume. The simple optical configuration consists of a HeNe laser, polarizing optic, fused-silica capillary, and charge-coupled device (CCD) camera in communication with a laser beam analyzer. The capillary scale polarimeter is based on the interaction between a polarized laser beam and a capillary tube, which results in a 360 degree fan of scattered light. This array of scattered light contains a set of interference fringe, which respond in a reproducible manner to changes in solute optical activity. The polarimetric utility of the instrument will be demonstrated by the analysis of two optically active solutes, R-mandelic acid and D-glucose, in addition to the nonoptically active control, glycerol. The polarimetric response of the system is quantifiable with detection limits facilitating 1.7 x 10(-3) M or 68 x 10(-12) nmol (7 psi 10(-9) g) sensitivity. PMID:11315158

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

    OpenAIRE

    Mohita Marwaha; Kanwar Deep Singh Nanda

    2012-01-01

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

  14. 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.

  15. Osteofibrous dysplasia of clavicle clinically mimicking chronic osteomyelitis

    Directory of Open Access Journals (Sweden)

    Nirmal Raj Gopinathan

    2016-01-01

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

  16. Dysspondyloenchondromatosis: Another COL2A1-Related Skeletal Dysplasia?

    OpenAIRE

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

    2011-01-01

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

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

    OpenAIRE

    Fries, C L; Remedios, A M

    1995-01-01

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

  18. The role of the acetabular labrum in hip dysplasia

    OpenAIRE

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

    2013-01-01

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

  19. Juvenile dysmenorrhea associated with hypomagnesemia and connective tissue dysplasia

    OpenAIRE

    Oltinoy Yakubova

    2012-01-01

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

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

    OpenAIRE

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

    2012-01-01

    Aim. Ovarian epithelial dysplasia was initially described in material from prophylactic oophorectomies performed in patients at genetic risk of ovarian cancer. Similar histopathological abnormalities have been revealed after ovulation stimulation. Since infertility is also a risk factor for ovarian neoplasia, the aim of this study was to study the relationship between infertility and ovarian dysplasia. Methods. We blindly reviewed 127 histopathological slides of adnexectomies or ovarian cyste...

  1. Conventional Complete Denture in Patients with Ectodermal Dysplasia

    OpenAIRE

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

    2015-01-01

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

  2. Dentin dysplasia type 1d: A rare case

    OpenAIRE

    Sujit Ranjan Sahoo; Sonia Aggarwal

    2014-01-01

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

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

    Energy Technology Data Exchange (ETDEWEB)

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

    2002-09-01

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

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

    OpenAIRE

    Hamza Sucuoglu

    2016-01-01

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

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

    Science.gov (United States)

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

    1999-05-01

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

  6. ULTRASONOGRAPHIC FINDINGS IN CAIRN TERRIERS WITH PRECLINICAL RENAL DYSPLASIA

    OpenAIRE

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

    2010-01-01

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

  7. Differential Genetic Regulation of Canine Hip Dysplasia and Osteoarthritis

    OpenAIRE

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

    2010-01-01

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

  8. Ectodermal Dysplasia: Management of Knife-Edged Irregular Ridge and Its Rehabilitation with Hybrid Implant Prosthesis.

    Science.gov (United States)

    Revanappa, Prithviraj Doddamane; Gaur, Satyam; Srivastava, Rachana; Patil, Abhishekha; Prithviraj, Shruthi Doddamane

    2016-05-01

    Ectodermal Dysplasia Syndrome (EDS) is mainly X-linked inherited disorder with male predominance. According to Lyon hypothesis, female patients may show partial expression of EDS. Oral findings include hypodontia, rarely anodontia, protuberant lips, hyposalivation, conical teeth and loss of vertical dimension. The alveolar process fails to develop in the three dimensions. Such patients present a challenge to dental treatment due to an irregular residual ridge. This case report presents oral, functional and aesthetic rehabilitation of a 21-year-old female diagnosed with EDS using implants in the anterior maxilla at the sites of the canines bilaterally. Following, implant placement, it was noted that implant in the region of right canine was labially inclined compared to implant in the region of left canine, but both were centered in the ridge. To manage non-parallelism, one-piece titanium framework was fabricated using computer numeric controlled (CNC) machine. Subsequently, tooth and gingival shade ceramics were fired to simulate natural teeth and compensate for gingival deficiency respectively. The treatment described here restored patient's aesthetics, function, self-confidence and status in society. PMID:27437373

  9. EXTRAPULMONARY SEQUESTRATION WITH PULMONARY HYPOPLASIA AND MULTICYSTIC RENAL DYSPLASIA : A RARE CASE REPORT

    Directory of Open Access Journals (Sweden)

    Anita

    2015-05-01

    Full Text Available Pulmonary sequestration is a rare anomaly which consists of the presence of pulmonary tissue that is not attached to the rest of the lung and does not communicate with the trachea. [1] It could be intrapulmonary or extrapulmonary. We report a case of extrapulmonary sequestration with brief review of literature. A 22 years old primigravida underwent an ultrasonography at 24 weeks of gestation which revealed a single live fetus with bilateral pleural effusion, fetal hydrops and the fetal thorax showed mediastinal shift to the right. A hyperechoic mass was present in the left thoracic cavity with a systemic blood supply to it. Termination of pregnancy was advised as the findings were incompatible with life and the fetus autopsied. Significant gross findings were a hypoplastic left lung, a grey - white spongy mass adjacent to the left lung but no t attached to it and present outside the pleural cavity which derived its blood supply via a branch from the thoracic aorta and caused a shift in the mediastinal structures to the right. Both kidneys showed multiple cystic spaces. Microscopically the mass showed multiple cystically dilated alveolar spaces and ducts lined by cuboidal to tall columnar epithelium, the left lung showed features of pulmonary hypoplasia and the microscopic findings in both the kidneys were suggestive of multicystic renal dysplasi a. Hence, it was reported as a case of left sided extrapulmonary sequestration with hypoplastic left lung and bilateral renal cystic dysplasia.

  10. 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

  11. 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.

  12. Rare Lung Diseases II: Pulmonary Alveolar Proteinosis

    Directory of Open Access Journals (Sweden)

    Stephen C Juvet

    2008-01-01

    Full Text Available The present article is the second in a series on rare lung diseases. It focuses on pulmonary alveolar proteinosis (PAP, a disorder in which lipoproteinaceous material accumulates in the alveolar space. PAP was first described in 1958, and for many years the nature of the material accumulating in the lungs was unknown. Major insights into PAP have been made in the past decade, and these have led to the notion that PAP is an autoimmume disorder in which autoantibodies interfere with signalling through the granulocyte-macrophage colony-stimulating factor receptor, leading to macrophage and neutrophil dysfunction. This has spurred new therapeutic approaches to this disorder. The discussion of PAP will begin with a case report, then will highlight the classification of PAP and review recent insights into the pathogenesis of PAP. The approach to therapy and the prognosis of PAP will also be discussed.

  13. Pulmonary alveolar proteinosis and aluminum dust exposure

    Energy Technology Data Exchange (ETDEWEB)

    Miller, R.R.; Churg, A.M.; Hutcheon, M.; Lom, S.

    1984-08-01

    A 44-yr-old male presented shortness of breath, diffuse X-ray infiltrates, and physiologic evidence of a restrictive lung disease. Biopsy revealed pulmonary alveolar proteinosis. The patient had worked for the previous 6 yr as an aluminum rail grinder in a very dusty environment. Analysis of his lung tissue revealed greater than 300 X 10(6) particles of aluminum/g dry lung; all of the particles appeared as spheres of less than 1 mu diameter. We believe that this case represents an example of pulmonary alveolar proteinosis induced by inhalation of aluminum particles; this finding confirms animal studies which suggest that proteinosis can be produced by very large doses of many types of finely divided mineral dust.

  14. Treatment of Adult Primary Alveolar Proteinosis.

    Science.gov (United States)

    Rodríguez Portal, José Antonio

    2015-07-01

    Pulmonary alveolar proteinosis (PAP) is a rare disease characterized by the accumulation of surfactant-like lipoproteinaceous material in the distal air spaces and terminal bronchi, which may lead to impaired gas exchange. This accumulation of surfactant is due to decreased clearance by the alveolar macrophages. Its primary, most common form, is currently considered an autoimmune disease. Better knowledge of the causes of PAP have led to the emergence of alternatives to whole lung lavage, although this is still considered the treatment of choice. Most studies are case series, often with limited patient numbers, so the level of evidence is low. Since the severity of presentation and clinical course are variable, not all patients will require treatment. Due to the low level of evidence, some objective criteria based on expert opinion have been arbitrarily proposed in an attempt to define in which patients it is best to initiate treatment. PMID:25896950

  15. Silver Nanoparticles in Alveolar Bone Surgery Devices

    Directory of Open Access Journals (Sweden)

    Stefano Sivolella

    2012-01-01

    Full Text Available Silver (Ag ions have well-known antimicrobial properties and have been applied as nanostrategies in many medical and surgical fields, including dentistry. The use of silver nanoparticles (Ag NPs may be an option for reducing bacterial adhesion to dental implant surfaces and preventing biofilm formation, containing the risk of peri-implant infections. Modifying the structure or surface of bone grafts and membranes with Ag NPs may also prevent the risk of contamination and infection that are common when alveolar bone augmentation techniques are used. On the other hand, Ag NPs have revealed some toxic effects on cells in vitro and in vivo in animal studies. In this setting, the aim of the present paper is to summarize the principle behind Ag NP-based devices and their clinical applications in alveolar bone and dental implant surgery.

  16. Bilateral stony lung: pulmonary alveolar microlithiasis.

    Science.gov (United States)

    Chandra, Subhash; Mohan, Anant; Guleria, Randeep; Das, Prasenjit; Sarkar, Chitra

    2009-01-01

    A 40-year-old male paddy field worker was referred for exertional shortness of breath and non-productive cough for 4 years. He had been treated for pulmonary tuberculosis twice. Chest radiograph showed extensive bilateral nodular opacities ("sandstorm-like") in the middle and lower lobe. Pulmonary function tests revealed a restrictive ventilatory defect. High resolution CT showed widespread nodular infiltration with "crazy paving" appearance and interrupted black pleura sign. This was confirmed as pulmonary alveolar microlithiasis (PAM) by trans-bronchial lung biopsy, which showed normal respiratory lining epithelium with dilated alveolar spaces containing many calcific bodies, some of which showed concentric calcification. The possibilities of silicosis (due to exposure to husk) and tuberculosis, both of which can mimic PAM clinically and radiologically, made this case a diagnostic challenge. PMID:21686505

  17. Impacts on oil recovery from capillary pressure and capillary heterogeneities

    Energy Technology Data Exchange (ETDEWEB)

    Bognoe, Thomas

    2008-07-01

    The main conclusions drawn from this thesis are; 7 scientific papers are published on a broad variety of subjects, and describes in detail the experiments and research treated in this thesis. Scientific research has been performed, investigating the subjects of capillary pressure and capillary heterogeneities from different angles. This thesis discusses the findings in this study and aims to illustrate the benefits of the results obtained for further development of other experiments, and/or even the industrial benefits in field development. The methods for wettability alteration have developed throughout the work. From producing heterogeneous wettability alterations, the methods have improved to giving both radial and lateral uniform wettability alterations, which also remains unaltered throughout the duration of the experimental work. The alteration of wettability is dependent on initial water saturation, flow rate, aging time and crude oil composition. Capillary pressure and relative permeability curves have been measured for core plugs at different wettabilities using conventional centrifuge methods. The trends observed are mostly consistent with theory. The production mechanisms of strongly and moderately water wet chalk has been investigated. At strongly water wet conditions in fractured chalk; the flow is governed by capillary forces, showing strong impact from the fractures. At moderately water wet conditions, the impact of the fractures are absent, and a dispersed water front is observed during the displacement. The oil recovery is about the same, at the two wettabilities. Fracture crossing mechanisms at the same wettability conditions have been mapped. And the observations are consistent with those of the water floods. During strongly water wet displacement, the fracture crossing is occurring once the inlet core has reached endpoint of spontaneous imbibition. At moderately water wet conditions the fracture crossing is less abrupt, and creation of wetting

  18. Alveolar ridge augmentation by osteoinduction in rats

    DEFF Research Database (Denmark)

    Pinholt, E M; Bang, G; Haanaes, H R

    1990-01-01

    The purpose of this study was to evaluate bone substitutes for alveolar ridge augmentation by osteoinduction. Allogenic, demineralized, and lyophilized dentin and bone was tested for osteoinductive properties in order to establish an experimental model for further studies. Implantations were...... performed subperiosteally on the premaxilla and heterotopically in the abdominal muscles of rats. Light microscopic evaluations revealed that all allogenic, demineralized, and lyophilized dentin and bone implants induced new bone formation. No inflammatory or foreign body reactions were observed....

  19. Non-Aqueous Capillary Electrophoresis

    Science.gov (United States)

    Szumski, Michał; Buszewski, Bogusław

    Non-aqueous capillary electrophoresis and capillary electrochromatography are special variants of these techniques. Here, organic solvents or their mixtures with or without dissolved electrolytes are used as separation buffer or mobile phase, respectively. The most important features of non-aqueous systems are: better solubility of more hydrophobic ionic substances (many natural products) than in water, much less current and Joule heating allows for using highly concentrated buffers and/or larger capillary internal diameters, polar interactions are enhanced in organic solvents which is often highly advantageous in chiral separation systems. This chapter presents most frequently used solvents, their properties, as well as shows pH* scale which is often used in non-aqueous systems.

  20. In situ methods for assessing alveolar mechanics.

    Science.gov (United States)

    Wu, You; Perlman, Carrie E

    2012-02-01

    Lung mechanics are an important determinant of physiological and pathophysiological lung function. Recent light microscopy studies of the intact lung have furthered the understanding of lung mechanics but used methodologies that may have introduced artifacts. To address this concern, we employed a short working distance water immersion objective to capture confocal images of a fluorescently labeled alveolar field on the costal surface of the isolated, perfused rat lung. Surface tension held a saline drop between the objective tip and the lung surface, such that the lung surface was unconstrained. For comparison, we also imaged with O-ring and coverslip; with O-ring, coverslip, and vacuum pressure; and without perfusion. Under each condition, we ventilated the lung and imaged the same region at the endpoints of ventilation. We found use of a coverslip caused a minimal enlargement of the alveolar field; additional use of vacuum pressure caused no further dimensional change; and absence of perfusion did not affect alveolar field dimension. Inflation-induced expansion was unaltered by methodology. In response to inflation, percent expansion was the same as recorded by all four alternative methods. PMID:22074721

  1. Pulmonary alveolar proteinosis: time to shift?

    Science.gov (United States)

    Papiris, Spyros A; Tsirigotis, Panagiotis; Kolilekas, Likurgos; Papadaki, Georgia; Papaioannou, Andriana I; Triantafillidou, Christina; Papaporfyriou, Anastasia; Karakatsani, Anna; Kagouridis, Konstantinos; Griese, Matthias; Manali, Effrosyni D

    2015-06-01

    Pulmonary alveolar proteinosis (PAP) is categorized into hereditary, secondary and autoimmune PAP (aPAP) types. The common pathogenesis is the ability of the alveolar macrophages to catabolize phagocytized surfactant is affected. Hereditary PAP is caused by mutations involving the GM-CSF signaling, particularly in genes for the GM-CSF receptor and sometimes by GATA2 mutations. Secondary PAP occurs in hematologic malignancies, other hematologic disorders, miscellaneous malignancies, fume and dust inhalation, drugs, autoimmune disorders and immunodeficiencies. aPAP is related to the production of GM-CSF autoantibodies. PAP is characterized morphologically by the inappropriate and progressive 'occupation' of the alveolar spaces by an excessive amount of unprocessed surfactant, limiting gas exchange and gradually exhausting the respiratory reserve. Myeloid cells' immunity deteriorates, increasing the risk of infections. Treatment of PAP is based on its etiology. In aPAP, recent therapeutic advances might shift the treatment option from the whole lung lavage procedure under general anesthesia to the inhalation of GM-CSF 'as needed'. PMID:25864717

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

    OpenAIRE

    van Straten, Cornelia; Butow, Kurt-W

    2013-01-01

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

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

    OpenAIRE

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

    2007-01-01

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

  4. Surfactant-derived proteins as markers of alveolar membrane damage in heart failure.

    Directory of Open Access Journals (Sweden)

    Paola Gargiulo

    Full Text Available In heart failure (HF alveolar-capillary membrane is abnormal. Surfactant-derived proteins (SPs and plasma receptor for advanced-glycation-end-products (RAGE have been proposed as lung damage markers.Eighty-nine chronic HF and 17 healthy subjects were evaluated by echocardiography, blood parameters, carbon monoxide lung diffusion (DLCO and cardiopulmonary exercise test. We measured immature SP-B, mature SP-B, SP-A, SP-D and RAGE plasma levels.Immature SP-B (arbitrary units, mature SP-A (ng/ml and SP-D (ng/ml, but not mature SP-B (ng/ml and RAGE (pg/ml levels, were higher in HF than in controls [immature SP-B: 15.6 (13.1, 75th-25th interquartile range Vs. 11.1 (6.4, p<0.01; SP-A, 29.6 (20.1 Vs. 18.3 (13.5, p = 0.01; SP-D: 125 (90 Vs. 78 (58, p<0.01]. Immature SP-B, SP-A, SP-D and RAGE values were related to DLCO, peak oxygen consumption, ventilatory efficiency, and brain natriuretic peptide (BNP, whereas plasma mature SP-B was not. The DLCO Vs. immature SP-B correlation was the strongest one. At multivariate analysis, RAGE was associated to age and creatinine, SP-A to DLCO and BNP, SP-D to BNP, mature SP-B to DLCO and creatinine, and immature SP-B only but strongly to DLCO.Immature SP-B is the most reliable biological marker of alveolar-capillary membrane function in HF.

  5. Neonatal periostin knockout mice are protected from hyperoxia-induced alveolar simplication.

    Directory of Open Access Journals (Sweden)

    Paul D Bozyk

    Full Text Available In bronchopulmonary dysplasia (BPD, alveolar septae are thickened with collagen and α-smooth muscle actin, transforming growth factor (TGF-β-positive myofibroblasts. Periostin, a secreted extracellular matrix protein, is involved in TGF-β-mediated fibrosis and myofibroblast differentiation. We hypothesized that periostin expression is required for hypoalveolarization and interstitial fibrosis in hyperoxia-exposed neonatal mice, an animal model for this disease. We also examined periostin expression in neonatal lung mesenchymal stromal cells and lung tissue of hyperoxia-exposed neonatal mice and human infants with BPD. Two-to-three day-old wild-type and periostin null mice were exposed to air or 75% oxygen for 14 days. Mesenchymal stromal cells were isolated from tracheal aspirates of premature infants. Hyperoxic exposure of neonatal mice increased alveolar wall periostin expression, particularly in areas of interstitial thickening. Periostin co-localized with α-smooth muscle actin, suggesting synthesis by myofibroblasts. A similar pattern was found in lung sections of infants dying of BPD. Unlike wild-type mice, hyperoxia-exposed periostin null mice did not show larger air spaces or α-smooth muscle-positive myofibroblasts. Compared to hyperoxia-exposed wild-type mice, hyperoxia-exposed periostin null mice also showed reduced lung mRNA expression of α-smooth muscle actin, elastin, CXCL1, CXCL2 and CCL4. TGF-β treatment increased mesenchymal stromal cell periostin expression, and periostin treatment increased TGF-β-mediated DNA synthesis and myofibroblast differentiation. We conclude that periostin expression is increased in the lungs of hyperoxia-exposed neonatal mice and infants with BPD, and is required for hyperoxia-induced hypoalveolarization and interstitial fibrosis.

  6. Endoscopic Observation of the Growth Process of a Right-Side Sessile Serrated Adenoma/Polyp with Cytological Dysplasia to an Invasive Submucosal Adenocarcinoma

    Science.gov (United States)

    Yoshida, Kanako; Daa, Tsutomu

    2016-01-01

    A sessile serrated adenoma/polyp (SSA/P) with cytological dysplasia in the right colon, which transformed to an invasive submucosal adenocarcinoma finally, was endoscopically observed in a 76-year-old woman. A whitish soft SSA/P (approximately 25 mm in diameter) was detected in the cecum. Biopsy samples were obtained from the small nodule, and the lesion was eventually diagnosed as an SSA/P with cytological dysplasia, considering endoscopic observations, among which the narrow-band imaging features suggested that the lesion was adenomatous, that is, a round-oval pattern, and hyperplastic, that is, comprising a circular pattern with dots and an invisible capillary vessel. After 11 months, an SSA/P had rapidly developed into a submucosal adenocarcinoma with lymphatic infiltrations, and the most aggressive deep invasion was observed in the central depression. This case suggests that right-side SSA/Ps with cytological dysplasia should be removed immediately, considering the potential for rapid progression to a larger size and eventually to deep and extensive cancer. PMID:27437153

  7. Claudins and alveolar epithelial barrier function in the lung

    OpenAIRE

    Frank, James A.

    2012-01-01

    The alveolar epithelium of the lung constitutes a unique interface with the outside environment. This thin barrier must maintain a surface for gas transfer while being continuously exposed to potentially hazardous environmental stimuli. Small differences in alveolar epithelial barrier properties could therefore have a large impact on disease susceptibility or outcome. Moreover, recent work has focused attention on the alveolar epithelium as central to several lung diseases, including acute lu...

  8. Alveolar pressure during high-frequency jet ventilation

    OpenAIRE

    Vught, Adrianus; Versprille, Adrian; Jansen, Jos

    1990-01-01

    textabstractWe studied the influence of ventilatory frequency (1-5 Hz), tidal volume, lung volume and body position on the end-expiratory alveolar-to-tracheal pressure difference during high-frequency jet ventilation (HFJV) in Yorkshire piglets. The animals were anesthetized and paralysed. Alveolar pressure was estimated with the clamp off method, which was performed by a computer controlled ventilator and which had been extensively tested on its feasibility. The alveolar-to-tracheal pressure...

  9. Alveolar epithelial type II cell: defender of the alveolus revisited

    OpenAIRE

    Fehrenbach Heinz

    2001-01-01

    Abstract In 1977, Mason and Williams developed the concept of the alveolar epithelial type II (AE2) cell as a defender of the alveolus. It is well known that AE2 cells synthesise, secrete, and recycle all components of the surfactant that regulates alveolar surface tension in mammalian lungs. AE2 cells influence extracellular surfactant transformation by regulating, for example, pH and [Ca2+] of the hypophase. AE2 cells play various roles in alveolar fluid balance, coagulation/fibrinolysis, a...

  10. Pulmonary Alveolar Proteinosis in Children: A case series

    OpenAIRE

    seyyed Ahmad Tabatabaei; abdollah karimi; Sedigheh Rafiee Tabatabaei; B Radpay; Farzaneh Jadali

    2010-01-01

    Pulmonary Alveolar Proteinosis(PAP) is a rare disease of unknown etiology, characterized by the accumulation of proteinoceous material in the alveoli that is rich in lipid and is positive on periodic acid-Schiff(PAS) stain. PAP is rare in children. Two forms are encountered in pediatric practice: congenital alveolar proteinosis (CAP) and a later–onset form that is generally less severe. Broncho-alveolar lavage is the key to diagnosis. Therapeutic lung lavages are the only effective treatment ...

  11. Isolation and Culture of Human Alveolar Type II Pneumocytes.

    Science.gov (United States)

    Witherden, I R; Tetley, T D

    2001-01-01

    Alveolar type II pneumocytes (alveolar type II cells; TII cells) play an important role in the homeostasis of the alveolar unit. They are the progenitor cells to the type I pneumocyte and are therefore responsible for regeneration of alveolar epithelium following alveolar epithelial cell damage. The type I cell covers over 90% of the alveolar surface, reflecting its capacity to stretch into a flattened cell with very little depth (approx. 0.1 µm), but with a large surface area, to facilitate gas exchange. Nevertheless, the type II cell outnumbers type I cells, estimated to be by 2:1 in rodents. Most of the type II cell lies buried in the interstitium of the alveolus, with only the apical tip of the cell reaching into the airspace, through which another crucial function, provision of alveolar surfactant, occurs. Surfactant synthesis and secretion is a unique feature of type II cells; surfactant consists of a high proportion of phospholipids (approx. 90%) and a small proportion of protein (approx. 10%), which contains surfactant apoprotein (SP), of which four have so far been described, SP-A, SP-B, SP-C, and SP-D (1,2). Surfactant is highly surface active and is essential to prevent alveolar collapse. In addition, surfactant has many other roles, including pulmonary host defense. Compromised surfactant synthesis and function are believed to be a feature of numerous disease states (1,2), including infant respiratory distress syndrome, adult respiratory distress syndrome, alveolar proteinosis, and microbial infection. PMID:21336897

  12. Capillary thinning of polymeric filaments

    DEFF Research Database (Denmark)

    Kolte, Mette Irene; Szabo, Peter

    1999-01-01

    The capillary thinning of filaments of a Newtonian polybutene fluid and a viscoelastic polyisobutylene solution are analyzed experimentally and by means of numerical simulation. The experimental procedure is as follows. Initially, a liquid sample is placed between two cylindrical plates. Then, th...

  13. Capillary thinning of polymeric filaments

    DEFF Research Database (Denmark)

    Kolte, Mette Irene; Szabo, Peter; Hassager, Ole

    The capillary thinning of a polymeric filament is analysed experimentally as well as by means of numerical simulation. The experimental procedure is as follows. Initially a liquid sample is kept between two cylindrical plates. Then the bottom plate is lowered under gravity to yield a given strain...

  14. Ion guiding in alumina capillaries

    DEFF Research Database (Denmark)

    Juhász, Z.; Sulik, B.; Biri, S.;

    2009-01-01

    Transmission of a few keV impact energy Ne ions through capillaries in anodic alumina membranes has been studied with different ion counting methods using an energy dispersive electrostatic spectrometer, a multichannel plate (MCP) array and sensitive current-measurement. In the present work, we...

  15. Capillary Rise in a Wedge

    Science.gov (United States)

    Piva, M.

    2009-01-01

    In introductory-level physics courses, the concept of surface tension is often illustrated using the example of capillary rise in thin tubes. In this paper the author describes experiments conducted using a planar geometry created with two small plates forming a thin wedge. The distribution of the fluid entering the wedge can be studied as a…

  16. Characteristic aspects of alveolar proteinosis diagnosis Aspectos característicos do diagnóstico da proteinose alveolar

    OpenAIRE

    Thiago Prudente Bártholo; José Gustavo Pugliese; Luiz Carlos Aguiar Vaz; Cláudia Henrique da Costa; Rogério Rufino

    2012-01-01

    Alveolar proteinosis is an uncommon pulmonary disease characterized by an accumulation of surfactant in terminal airway and alveoli, thereby impairing gas exchange and engendering respiratory insufficiency in some cases. Three clinically and etiologically distinct forms of pulmonary alveolar proteinosis are recognized: congenital, secondary and idiopathic, the latter corresponding to 90% of the cases. In this case report we present a young male patient that was diagnosed with alveolar protein...

  17. Arrhythmogenic right ventricular dysplasia: MR features

    International Nuclear Information System (INIS)

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

  18. Bilateral femoral head dysplasia and osteochondritis

    International Nuclear Information System (INIS)

    Multiple epiphyseal dysplasia tarda (MEDT) and spondylo-epiphyseal dysplasisa tarda (SEDT) are genetically transmitted conditions affecting the hips, which may resemble bilateral Legg-Perthes disease (LPD). Misdiagnoses are not uncommon, with serious implications for treatment, prognosis and genetic counseling. An epidemiologic study of MEDT and SEDT in a well-defined population of 453 921 persons in Denmark was performed. A population prevalence of 0.7 per 100 000 inhabitants with SEDT and 4.0 per 100 000 inhabitants with MEDT was found. Distinguishing features between MEDT, SEDT and bilateral LPD based on radiologic findings in the hips, other joints, and spine were ascertained. Bilateral LPD is always asymmetric, exhibits patches of increased density in the epiphyses and often metaphyseal cyst-like changes. No spinal lesion or affection of other joints is present, and the acetabula are normal. In MEDT and SEDT the capital femoral epiphyses are symmetrically flattened, fragmented and uniformly slightly sclerotic. Generalised platyspondyly is a constant finding in SEDT. (orig.)

  19. Pulmonary hemosiderosis in children with bronchopulmonary dysplasia.

    Science.gov (United States)

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

    2014-01-01

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

  20. Pulmonary Hemosiderosis in Children with Bronchopulmonary Dysplasia

    Directory of Open Access Journals (Sweden)

    David Kurahara

    2014-01-01

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

  1. Dentin Dysplasia in Notum Knockout Mice.

    Science.gov (United States)

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

    2016-07-01

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

  2. Epilepsy as a Rare Neurologic Manifestation of Oculodentodigitalis Dysplasia

    Directory of Open Access Journals (Sweden)

    Mohammad BARZEGAR

    2012-09-01

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

  3. 3D-CT evaluation of secondary alveolar bone grafts in alveolar clefts

    Energy Technology Data Exchange (ETDEWEB)

    Naitoh, Hiroshi; Nishimura, Yoshihiko [Kyoto Univ. (Japan). Graduate School of Medicine; Yamawaki, Yoshiroh [Kyoto Katsura Hospital (Japan); Morimoto, Naoki [Kobe City General Hospital (Japan)

    2002-07-01

    From 1994 to 2000, we treated 116 patients with cleft alveolus by secondary alveolar bone grafts, and 48 of them were evaluated morphologically with 3D-CT. The frequency of successful bony bridging was significantly higher in the group whose grafts were completely enveloped (including the anterior alveolar ridge) with a mucoperiosteal flap. The frequency was also significantly higher in the group who underwent bone grafts at the age of 13 or less, and canine eruptions did not influence the ratio. Some cases showed such an improved growth pattern of grafted bone that the shape of the affected maxilla resembled that of the normal side, after long-term follow-up observations. The growth increment was remarkable in anterior maxillary height. Orthodontic management guides the canine or incisor into the reconstructed area of the previous cleft. We surmise that the new occlusal position puts pressure on the grafted bone and promotes further osteogenesis. These findings show that it is important to produce sufficient bony bridge to guide the canine or incisor, not the volume of grafted bone, in secondary alveolar bone grafts. Long-term follow-up observation, after more than 2-3 years, is also necessary to evaluate secondary alveolar bone grafts. (author)

  4. Septo-Optic Dysplasia Syndrome: a Case Report

    Directory of Open Access Journals (Sweden)

    H Alizadeh

    2006-05-01

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

  5. Frequency of Developmental Hip Dysplasia in a Training Hospital

    Directory of Open Access Journals (Sweden)

    Emrah Can

    2010-09-01

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

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

    Science.gov (United States)

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

    1997-01-01

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

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

    Directory of Open Access Journals (Sweden)

    Yadavalli Guruprasad

    2012-01-01

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

  8. 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.

  9. Nostril Base Augmentation Effect of Alveolar Bone Graft

    Directory of Open Access Journals (Sweden)

    Woojin Lee

    2013-09-01

    Full Text Available Background The aims of alveolar bone grafting are closure of the fistula, stabilization ofthe maxillary arch, support for the roots of the teeth adjacent to the cleft on each side.We observed nostril base augmentation in patients with alveolar clefts after alveolar bonegrafting. The purpose of this study was to evaluate the nostril base augmentation effect ofsecondary alveolar bone grafting in patients with unilateral alveolar cleft.Methods Records of 15 children with alveolar clefts who underwent secondary alveolar bonegrafting with autogenous iliac cancellous bone between March of 2011 and May of 2012 werereviewed. Preoperative and postoperative worm’s-eye view photographs and reconstructedthree-dimensional computed tomography (CT scans were used for photogrammetry. Thedepression of the nostril base and thickness of the philtrum on the cleft side were measuredin comparison to the normal side. The depression of the cleft side pyriform aperture wasmeasured in comparison to the normal side on reconstructed three-dimensional CT.Results Significant changes were seen in the nostril base (P=0.005, the philtrum length(P=0.013, and the angle (P=0.006. The CT measurements showed significant changes in thepyriform aperture (P<0.001 and the angle (P<0.001.Conclusions An alveolar bone graft not only fills the gap in the alveolar process but alsoaugments the nostril base after surgery. In this study, only an alveolar bone graft was performedto prevent bias from other procedures. Nostril base augmentation can be achieved byperforming alveolar bone grafts in children, in whom invasive methods are not advised.

  10. Particle-induced indentation of the alveolar epithelium caused by surface tension forces

    OpenAIRE

    Mijailovich, S. M.; Kojic, M.; Tsuda, A.

    2010-01-01

    Physical contact between an inhaled particle and alveolar epithelium at the moment of particle deposition must have substantial effects on subsequent cellular functions of neighboring cells, such as alveolar type-I, type-II pneumocytes, alveolar macrophage, as well as afferent sensory nerve cells, extending their dendrites toward the alveolar septal surface. The forces driving this physical insult are born at the surface of the alveolar air-liquid layer. The role of alveolar surfactant submer...

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

    International Nuclear Information System (INIS)

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

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

    OpenAIRE

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

    2015-01-01

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

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

    International Nuclear Information System (INIS)

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

  14. Pelvic orientation and assessment of hip dysplasia in adults

    DEFF Research Database (Denmark)

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

    2004-01-01

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

  15. Polyostotic Fibrous Dysplasia of Cranio-Maxillofacial Area

    International Nuclear Information System (INIS)

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

  16. 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.

  17. New directions in clinical imaging of cortical dysplasias.

    Science.gov (United States)

    Madan, Neel; Grant, P Ellen

    2009-10-01

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

  18. Pelvic orientation and assessment of hip dysplasia in adults

    DEFF Research Database (Denmark)

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

    2004-01-01

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

  19. CASE REPORT OF SPONDYLOEPIPHYSEAL DYSPLASIA SECONDARY TO CONGINETAL HYPOTHYROIDISM

    Directory of Open Access Journals (Sweden)

    Jhatoth

    2014-07-01

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

  20. Evaluation of reflux nephropathy, pyelonephritis and renal dysplasia

    International Nuclear Information System (INIS)

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

  1. A radiographic study of alveolar bone loss in Irish schoolchildren

    International Nuclear Information System (INIS)

    Bitewing radiographs were used to assess evidence of alveolar bone loss in 1492 children in the age range 7-12 years. According to the method used in this study, alveolar bone loss was shown to occur in 1.7% of the children, and maxillary teeth were affected twice as frequently as mandibular teeth. (Author)

  2. Perawatan Pulpa Gigi Sulung Disertai Abses Dento Alveolar

    OpenAIRE

    Nasution, Nurasiah Adita

    2008-01-01

    Abses dento alveolar adalah kumputan pus yang berada pada tulang alveolar sekitar apeks gigi akibat kematian pulpa. Matinya pulpa dapat disebabkan bakteri, trauma, iritasi mekanis, termis maupun kimiawi. Pengaruh bakteri merupakan penyebab kerusakan jaringan pulpa yang terbesar. Perluasan infeksi ke dalam jaringan periapikal dapat melalui foramen apikalke jaringan periodontal sehingga terjadi inflarnasi. Bila virulensi bakteri meningkat disertai rendahnya pertahanan tubuh penderita dapat ...

  3. Alveolar pressure during high-frequency jet ventilation

    NARCIS (Netherlands)

    A.J. van Vught (Adrianus); A. Versprille (Adrian); J.R.C. Jansen (Jos)

    1990-01-01

    textabstractWe studied the influence of ventilatory frequency (1-5 Hz), tidal volume, lung volume and body position on the end-expiratory alveolar-to-tracheal pressure difference during high-frequency jet ventilation (HFJV) in Yorkshire piglets. The animals were anesthetized and paralysed. Alveolar

  4. Alveolar ridge augmentation by osteoinductive materials in goats

    DEFF Research Database (Denmark)

    Pinholt, E M; Haanaes, H R; Roervik, M;

    1992-01-01

    The purpose of the present study was to determine whether alveolar ridge augmentation could be induced in goats. In 12 male goats allogenic, demineralized, and lyophilized dentin or bone was implanted subperiosteally on the buccal sides of the natural edentulous regions of the alveolar process...

  5. Tongue-Palate Contact of Perceptually Acceptable Alveolar Stops

    Science.gov (United States)

    Lee, Alice; Gibbon, Fiona E.; O'Donovan, Cliona

    2013-01-01

    Increased tongue-palate contact for perceptually acceptable alveolar stops has been observed in children with speech sound disorders (SSD). This is a retrospective study that further investigated this issue by using quantitative measures to compare the target alveolar stops /t/, /d/ and /n/ produced in words by nine children with SSD (20 tokens of…

  6. Unexplained alveolar hemorrhage associated with Ginkgo and ginseng use.

    Science.gov (United States)

    Carlile, Paul V

    2015-04-01

    The author presents a case of diffuse alveolar hemorrhage in a woman consuming Ginkgo biloba extract and ginseng. The patient had no illnesses or exposures that would predispose to diffuse alveolar hemorrhage, and an extensive evaluation revealed no etiology. The patient has had no further bleeding since discontinuing Ginkgo biloba extract and ginseng 1 year ago. PMID:25887018

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

    OpenAIRE

    Dixit R; Chaudhari L; Mahashur A

    1998-01-01

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

  8. Pulmonary alveolar proteinosis: diagnostic and therapeutic challenges

    Directory of Open Access Journals (Sweden)

    Campo Ilaria

    2012-06-01

    Full Text Available Abstract Pulmonary Alveolar Proteinosis (PAP is a rare syndrome characterized by pulmonary surfactant accumulation within the alveolar spaces. It occurs with a reported prevalence of 0.1 per 100,000 individuals and in distinct clinical forms: autoimmune (previously referred to as the idiopathic form, represents the vast majority of PAP cases, and is associated with Granulocyte-Macrophage Colony Stimulating Factor (GM-CSF auto-antibodies; GMAbs, secondary (is a consequence of underlying disorders, congenital (caused by mutations in the genes encoding for the GM-CSF receptor, and PAP-like syndromes (disorders associated with surfactant gene mutations. The clinical course of PAP is variable, ranging from spontaneous remission to respiratory failure. Whole lung lavage (WLL is the current standard treatment for PAP patients and although it is effective in the majority of cases, disease persistence is not an unusual outcome, even if disease is well controlled by WLL. In this paper we review the therapeutic strategies which have been proposed for the treatment of PAP patients and the progress which has been made in the understanding of the disease pathogenesis.

  9. Canine Hip Dysplasia is Predictable by Genotyping

    Science.gov (United States)

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

    2011-01-01

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

  10. Treatment to pulmonary alveolar proteinosis with total bronchoalveolar lavage

    International Nuclear Information System (INIS)

    The pulmonary alveolar proteinosis is a rare disease with variable course and characterized by the accumulation of surfactant in the alveoli. By the treatment it was used the alveolar lavage with good results. We present the experience accumulated in the Las Americas clinic of Medellin city with the treatment of three patients with diagnosis of pulmonary alveolar proteinosis by alveolar lavage. We realized seven lavages, two of them bilateral and sequential. We didn't 't have important complications and in all cases we got good clinical and physiological results. Two patients had relapsed six and seven months after the first lavage and they needed a second lavage. We conclude that the pulmonary lavage is a secure and effective procedure in the treatment of the pulmonary alveolar proteinosis and the modality of bilateral sequential lavage is a good alternative and less expensive

  11. Contemporary Approaches in the Repair of Alveolar Clefts

    Directory of Open Access Journals (Sweden)

    Ufuk Tatli

    2014-08-01

    Full Text Available Cleft lip and palate is one of the most common craniofacial anomalies. The repair of the alveolar clefts is an important part of the treatment for patients with cleft lip and palate. The treatment concepts of alveolar bone grafting are still controversial. The corresponding controversial issues are; timing of alveolar bone grafting, graft materials, and timing of the orthodontic expansion. In the present article, aforementioned controversial issues and contemporary treatment modalities of the maxillary alveolar clefts were reviewed in the light of current literature. In conclusion, the most suitable time for alveolar bone grafting is mixed dentition period. Grafting procedure may be performed in the early or late phases of this period depending on some clinical features. Adjunct orthodontic expansion procedures should be performed before and/or after grafting depending on the patient's current features. [Archives Medical Review Journal 2014; 23(4.000: 563-574

  12. Capillary hemangioma of palatal mucosa

    OpenAIRE

    Bharti, Vipin; Singh, Jagmohan

    2012-01-01

    Hemangiomas are common tumors characterized microscopically by proliferation of blood vessels. The congenital hemangioma is often present at birth and may become more apparent throughout life. They are probably developmental rather than neoplastic in origin. Despite their benign origin and behavior, hemangiomas in the oral cavity are always of clinical importance to the dental profession and require appropriate clinical management. This case report presents a case of capillary hemangioma of a...

  13. Exponential asymptotics and capillary waves

    OpenAIRE

    Chapman, S. J.; Vanden-Broeck, J.

    2002-01-01

    Recently developed techniques in exponential asymptotics beyond all orders are employed on the problem of potential flows with a free surface and small surface tension, in the absence of gravity. Exponentially small capillary waves are found to be generated on the free surface where the equipotentials from singularities in the flow (for example, stagnation points and corners) meet it. The amplitude of these waves is determined, and the implications are considered for many quite general flows....

  14. Nonlinear waves in capillary electrophoresis

    OpenAIRE

    Ghosal, Sandip; Chen, Zhen

    2012-01-01

    Electrophoretic separation of a mixture of chemical species is a fundamental technique of great usefulness in biology, health care and forensics. In capillary electrophoresis the sample migrates in a microcapillary in the presence of a background electrolyte. When the ionic concentration of the sample is sufficiently high, the signal is known to exhibit features reminiscent of nonlinear waves including sharp concentration ‘shocks’. In this paper we consider a simplified model consisting of a ...

  15. Inertial Rise in Short Capillaries

    CERN Document Server

    Shardt, Orest; Derksen, J J; Mitra, Sushanta K

    2013-01-01

    In this fluid dynamics video we show capillary rise experiments with diethyl ether in short tubes. The height of each short tube is less than the maximum height the liquid can achieve, and therefore the liquid reaches the top of the tube while still rising. Over a narrow range of heights, the ether bulges out from the top of the tube and spreads onto the external wall.

  16. Hip dysplasia in a litter of Domestic Shorthair cats

    International Nuclear Information System (INIS)

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

  17. COL2A1 Mutation in Spondylometaphyseal Dysplasia Algerian Type

    OpenAIRE

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

    2013-01-01

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

  18. Radiographic Classification of Developmental Dysplasia of the Hip

    Directory of Open Access Journals (Sweden)

    José Julio Requeiro Molina

    2013-08-01

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

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

    Directory of Open Access Journals (Sweden)

    Arzu Tay

    2013-04-01

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

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

    Science.gov (United States)

    Halai, Tina; Stevens, Claire

    2015-10-01

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

  1. Radiographic signs of acetabular dysplasia of the adult hip

    Energy Technology Data Exchange (ETDEWEB)

    Lingg, G.; von Torklus, D.

    1981-06-01

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

  2. Treelike networks accelerating capillary flow

    Science.gov (United States)

    Shou, Dahua; Ye, Lin; Fan, Jintu

    2014-05-01

    Transport in treelike networks has received wide attention in natural systems, oil recovery, microelectronic cooling systems, and textiles. Existing studies are focused on transport behaviors under a constant potential difference (including pressure, temperature, and voltage) in a steady state [B. Yu and B. Li, Phys. Rev. E 73, 066302 (2006), 10.1103/PhysRevE.73.066302; J. Chen, B. Yu, P. Xu, and Y. Li, Phys. Rev. E 75, 056301 (2007), 10.1103/PhysRevE.75.056301]. However, dynamic (time-dependent) transport in such systems has rarely been concerned. In this work, we theoretically investigate the dynamics of capillary flow in treelike networks and design the distribution of radius and length of local branches for the fastest capillary flow. It is demonstrated that capillary flow in the optimized tree networks is faster than in traditional parallel tube nets under fixed constraints. As well, the flow time of the liquid is found to increase approximately linearly with penetration distance, which differs from Washburn's classic description that flow time increases as the square of penetration distance in a uniform tube.

  3. Progression of Diabetic Capillary Occlusion: A Model.

    Directory of Open Access Journals (Sweden)

    Xiao Fu

    2016-06-01

    Full Text Available An explanatory computational model is developed of the contiguous areas of retinal capillary loss which play a large role in diabetic maculapathy and diabetic retinal neovascularization. Strictly random leukocyte mediated capillary occlusion cannot explain the occurrence of large contiguous areas of retinal ischemia. Therefore occlusion of an individual capillary must increase the probability of occlusion of surrounding capillaries. A retinal perifoveal vascular sector as well as a peripheral retinal capillary network and a deleted hexagonal capillary network are modelled using Compucell3D. The perifoveal modelling produces a pattern of spreading capillary loss with associated macular edema. In the peripheral network, spreading ischemia results from the progressive loss of the ladder capillaries which connect peripheral arterioles and venules. System blood flow was elevated in the macular model before a later reduction in flow in cases with progression of capillary occlusions. Simulations differing only in initial vascular network structures but with identical dynamics for oxygen, growth factors and vascular occlusions, replicate key clinical observations of ischemia and macular edema in the posterior pole and ischemia in the retinal periphery. The simulation results also seem consistent with quantitative data on macular blood flow and qualitative data on venous oxygenation. One computational model applied to distinct capillary networks in different retinal regions yielded results comparable to clinical observations in those regions.

  4. Rituximab therapy in pulmonary alveolar proteinosis improves alveolar macrophage lipid homeostasis

    Directory of Open Access Journals (Sweden)

    Malur Anagha

    2012-06-01

    Full Text Available Abstract Rationale Pulmonary Alveolar Proteinosis (PAP patients exhibit an acquired deficiency of biologically active granulocyte-macrophage colony stimulating factor (GM-CSF attributable to GM-CSF specific autoantibodies. PAP alveolar macrophages are foamy, lipid-filled cells with impaired surfactant clearance and markedly reduced expression of the transcription factor peroxisome proliferator-activated receptor gamma (PPARγ and the PPARγ-regulated ATP binding cassette (ABC lipid transporter, ABCG1. An open label proof of concept Phase II clinical trial was conducted in PAP patients using rituximab, a chimeric murine-human monoclonal antibody directed against B lymphocyte specific antigen CD20. Rituximab treatment decreased anti-GM-CSF antibody levels in bronchoalveolar lavage (BAL fluid, and 7/9 patients completing the trial demonstrated clinical improvement as measured by arterial blood oxygenation. Objectives This study sought to determine whether rituximab therapy would restore lipid metabolism in PAP alveolar macrophages. Methods BAL samples were collected from patients pre- and 6-months post-rituximab infusion for evaluation of mRNA and lipid changes. Results Mean PPARγ and ABCG1 mRNA expression increased 2.8 and 5.3-fold respectively (p ≤ 0.05 after treatment. Lysosomal phospholipase A2 (LPLA2 (a key enzyme in surfactant degradation mRNA expression was severely deficient in PAP patients pre-treatment but increased 2.8-fold post-treatment. In supplemental animal studies, LPLA2 deficiency was verified in GM-CSF KO mice but was not present in macrophage-specific PPARγ KO mice compared to wild-type controls. Oil Red O intensity of PAP alveolar macrophages decreased after treatment, indicating reduced intracellular lipid while extracellular free cholesterol increased in BAL fluid. Furthermore, total protein and Surfactant protein A were significantly decreased in the BAL fluid post therapy. Conclusions Reduction in GM

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

    Science.gov (United States)

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

    2015-07-01

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

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

    Science.gov (United States)

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

    1981-09-01

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

  7. Capillary pumped loop body heat exchanger

    Science.gov (United States)

    Swanson, Theodore D. (Inventor); Wren, deceased, Paul (Inventor)

    1998-01-01

    A capillary pumped loop for transferring heat from one body part to another body part, the capillary pumped loop comprising a capillary evaporator for vaporizing a liquid refrigerant by absorbing heat from a warm body part, a condenser for turning a vaporized refrigerant into a liquid by transferring heat from the vaporized liquid to a cool body part, a first tube section connecting an output port of the capillary evaporator to an input of the condenser, and a second tube section connecting an output of the condenser to an input port of the capillary evaporator. A wick may be provided within the condenser. A pump may be provided between the second tube section and the input port of the capillary evaporator. Additionally, an esternal heat source or heat sink may be utilized.

  8. Microfluidic PMMA interfaces for rectangular glass capillaries

    International Nuclear Information System (INIS)

    We present the design and fabrication of a polymeric capillary fluidic interface fabricated by micro-milling. The design enables the use of glass capillaries with any kind of cross-section in complex microfluidic setups. We demonstrate two different designs of the interface; a double-inlet interface for hydrodynamic focusing and a capillary interface with integrated pneumatic valves. Both capillary interfaces are presented together with examples of practical applications. This communication shows the design optimization and presents details of the fabrication process. The capillary interface opens up for the use of complex microfluidic systems in single-use glass capillaries. They also enable simple fabrication of glass/polymer hybrid devices that can be beneficial in many research fields where a pure polymer chip negatively affects the device's performance, e.g. acoustofluidics. (technical note)

  9. Recent advances in alveolar biology: Evolution and function of alveolar proteins☆

    OpenAIRE

    Orgeig, Sandra; Hiemstra, Pieter S.; Edwin J A Veldhuizen; Casals, Cristina; Clark, Howard W.; Haczku, Angela; Knudsen, Lars; Possmayer, Fred

    2010-01-01

    This review is focused on the evolution and function of alveolar proteins. The lung faces physical and environmental challenges, due to changing pressures/volumes and foreign pathogens, respectively. The pulmonary surfactant system is integral in protecting the lung from these challenges via two groups of surfactant proteins – the small molecular weight hydrophobic SPs, SP-B and -C, that regulate interfacial adsorption of the lipids, and the large hydrophilic SPs, SP-A and -D, which are surfa...

  10. Hemorragia alveolar associada a nefrite lúpica Alveolar hemorrhage associated with lupus nephritis

    Directory of Open Access Journals (Sweden)

    Ricardo Henrique de Oliveira Braga Teixeira

    2003-12-01

    Full Text Available Hemorragia alveolar, como causa de insuficiência respiratória, é pouco freqüente, com diversas etiologias possíveis. Entre elas, o lúpus eritematoso sistêmico, que se apresenta geralmente como síndrome pulmão-rim, possui alta morbimortalidade. Acredita-se que a patogênese da microangiopatia, tanto renal como pulmonar, esteja associada ao depósito de imunocomplexos, que ativariam as vias de apoptose celular. Relatam-se dois casos de pacientes com nefrite lúpica que evoluíram com hemorragia alveolar associada à insuficiência respiratória necessitando de ventilação mecânica com evoluções totalmente distintas frente às terapias farmacológicas. O achado de anticorpos antimembrana basal em um dos casos evidencia a multiplicidade de mecanismos fisiopatológicos possivelmente envolvidos, que poderiam justificar as respostas heterogêneas frente aos tratamentos disponíveis.Alveolar hemorrhage leading to respiratory failure is uncommon. Various etiologies have been reported, including systemic lupus erythematosus, which generally presents as pulmonary-renal syndrome. It is believed that the pathogenesis of microangiopathy is related to deposits of immune complexes that lead to activation of cellular apoptosis. The authors report two cases of alveolar hemorrhage and respiratory failure, both requiring mechanical ventilation. The two cases had opposite outcomes after pharmacological therapy. The presence of anti-glomerular basement membrane antibodies in one of the cases demonstrates the multiplicity of physiopathological mechanisms that may be involved. This multiplicity of mechanisms provides a possible explanation for the heterogeneous responses to the available treatments.

  11. Arrhythmogenic right ventricular cardiomyopathy/dysplasia.

    Science.gov (United States)

    Thiene, Gaetano; Corrado, Domenico; Basso, Cristina

    2007-01-01

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

  12. Arrhythmogenic right ventricular cardiomyopathy/dysplasia

    Directory of Open Access Journals (Sweden)

    Basso Cristina

    2007-11-01

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

  13. Histogenesis of retinal dysplasia in trisomy 13

    Directory of Open Access Journals (Sweden)

    Gonzalez-Fernandez Federico

    2007-12-01

    Full Text Available Abstract Background Although often associated with holoprosencephaly, little detail of the histopathology of cyclopia is available. Here, we describe the ocular findings in a case of trisomy 13 to better understand the histogenesis of the rosettes, or tubules, characteristic of the retinal dysplasia associated with this condition. Methods A full pediatric autopsy was performed of a near term infant who died shortly after birth from multiple congenital anomalies including fused facial-midline structures. A detailed histopathological study of the ocular structures was performed. The expression of interphotoreceptor retinoid-binding protein (IRBP, cellular retinal-binding protein (CRALBP, rod opsin, and Sonic Hedgehog (Shh were studied by immunohistochemistry. Results Holoprosencephaly, and a spectrum of anatomical findings characteristic of Patau's syndrome, were found. Cytogenetic studies demonstrated trisomy 13 [47, XY, +13]. The eyes were fused but contained two developed separate lenses. In contrast, the cornea, and angle structures were hypoplastic, and the anterior chamber had failed to form. The retina showed areas of normally laminated neural retina, whereas in other areas it was replaced by numerous neuronal rosettes. Histological and immunohistochemical studies revealed that the rosettes were composed of differentiated retinal neurons and Müller cell glia. In normally laminated retina, Shh expression was restricted to retinal-ganglion cells, and to a population of neurons in the inner zone of the outer nuclear layer. In contrast, Shh could not be detected in the dysplastic rosettes. Conclusion The histopathology of cyclopia appears to be more complex than what may have been previously appreciated. In fact, the terms "cyclopia" and "synophthalmia" are misnomers as the underlying mechanism is a failure of the eyes to form separately during development. The rosettes found in the dysplastic retina are fundamentally different than those of

  14. DNA Sequencing Using capillary Electrophoresis

    Energy Technology Data Exchange (ETDEWEB)

    Dr. Barry Karger

    2011-05-09

    The overall goal of this program was to develop capillary electrophoresis as the tool to be used to sequence for the first time the Human Genome. Our program was part of the Human Genome Project. In this work, we were highly successful and the replaceable polymer we developed, linear polyacrylamide, was used by the DOE sequencing lab in California to sequence a significant portion of the human genome using the MegaBase multiple capillary array electrophoresis instrument. In this final report, we summarize our efforts and success. We began our work by separating by capillary electrophoresis double strand oligonucleotides using cross-linked polyacrylamide gels in fused silica capillaries. This work showed the potential of the methodology. However, preparation of such cross-linked gel capillaries was difficult with poor reproducibility, and even more important, the columns were not very stable. We improved stability by using non-cross linked linear polyacrylamide. Here, the entangled linear chains could move when osmotic pressure (e.g. sample injection) was imposed on the polymer matrix. This relaxation of the polymer dissipated the stress in the column. Our next advance was to use significantly lower concentrations of the linear polyacrylamide that the polymer could be automatically blown out after each run and replaced with fresh linear polymer solution. In this way, a new column was available for each analytical run. Finally, while testing many linear polymers, we selected linear polyacrylamide as the best matrix as it was the most hydrophilic polymer available. Under our DOE program, we demonstrated initially the success of the linear polyacrylamide to separate double strand DNA. We note that the method is used even today to assay purity of double stranded DNA fragments. Our focus, of course, was on the separation of single stranded DNA for sequencing purposes. In one paper, we demonstrated the success of our approach in sequencing up to 500 bases. Other

  15. A New Conductivity Detector for Capillary Electrophoresis

    Institute of Scientific and Technical Information of China (English)

    2000-01-01

    A new conductivity detector for capillary electrophoresis consisting of an electrochemical cell and a conductive meter was developed. In the cell, the microelectrode and capillary were inserted through the cell wall and fixed by screws and sealing ring, the ends of microelectrode and capillary were located by a guide with two cross holes. LOD for K+ was 1.5×10-5 mol/L.

  16. Serum proteins analysis by capillary electrophoresis

    OpenAIRE

    Uji, Yoshinori; Okabe, Hiroaki

    2001-01-01

    The purpose of this study was to evaluate the efficacy of multi-capillary electrophoresis instrument in clinical laboratory. An automated clinical capillary electrophoresis system was evaluated for performing serum proteins electrophoresis and immuno-fixation electrophoresis by subtraction. In this study the performance of capillary electrophoresis was compared with the cellulose acetate membrane electrophoresis and agarose gel immunofixation electrophoresis for serum proteins. The results of...

  17. Cytokine Analysis by Immunoaffinity Capillary Electrophoresis

    OpenAIRE

    Mendonca, Mark; Kalish, Heather

    2013-01-01

    Immunoaffinity capillary electrophoresis (ICE) is a powerful tool used to detect and quantify target proteins of interest in complex biological fluids. The target analyte is captured and bound to antibodies immobilized onto the wall of a capillary, labeled in situ with a fluorescent dye, eluted and detected online using laser-induced fluorescence following electrophoretic separation. Here, we illustrate how to construct an immunoaffinity capillary and utilize it to run ICE in order to capture...

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

    Science.gov (United States)

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

    2014-02-01

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

  19. A Case of Solitary Nonvascularized Corneal Epithelial Dysplasia

    Directory of Open Access Journals (Sweden)

    Tomoya Morii

    2016-01-01

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

  20. A Case of Solitary Nonvascularized Corneal Epithelial Dysplasia

    Science.gov (United States)

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

    2016-01-01

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

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

    OpenAIRE

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

    2003-01-01

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

  2. Colorectal cancer and dysplasia in inflammatory bowel disease.

    Science.gov (United States)

    Zisman, Timothy L; Rubin, David T

    2008-05-01

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

  3. Surgical Management of Seizures with Focal Cortical Dysplasia

    Directory of Open Access Journals (Sweden)

    J Gordon Millichap

    2003-12-01

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

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

    International Nuclear Information System (INIS)

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

  5. Craniofacial and temporal bone CT findings in cleidocranial dysplasia

    International Nuclear Information System (INIS)

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

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

    International Nuclear Information System (INIS)

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

  7. Colorectal cancer and dysplasia in inflammatory bowel disease

    Institute of Scientific and Technical Information of China (English)

    Timothy L Zisman; David T Rubin

    2008-01-01

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

  8. The extracellular matrix and diffusion barriers in focal cortical dysplasias

    Czech Academy of Sciences Publication Activity Database

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

    2012-01-01

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

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

    OpenAIRE

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

    1998-01-01

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

  10. Canine hip dysplasia: significance of early bony spurring

    International Nuclear Information System (INIS)

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

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

    DEFF Research Database (Denmark)

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

    2014-01-01

    OBJECTIVES: The aim of this study is to describe the prenatal diagnosis and epidemiology of multicystic kidney dysplasia (MCKD). METHODS: The study is based on routinely collected data from a European database of major congenital anomalies including 13 registries with cases born in 1997-2006 and ...

  12. 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...

  13. Anemia in a neonate with placental mesenchymal dysplasia.

    Science.gov (United States)

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

    2016-05-01

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

  14. Anemia in a neonate with placental mesenchymal dysplasia

    OpenAIRE

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

    2016-01-01

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

  15. Epidemiology of human alveolar echinococcosis in China.

    Science.gov (United States)

    Craig, Philip S

    2006-01-01

    Globally human alveolar echinococcosis (AE) is a rare zoonotic helminthic disease confined to the Northern Hemisphere as sporadic infections in rural populations, principally in some areas of North America, west-central Europe, the Near East, Siberia, Central Asia, Japan and China. In China the first human cases were reported from western regions in the 1960s, but most hospital records remain fragmented and inadequate. From the mid-1990s mass screening surveys using portable ultrasound scanners recorded higher prevalences (up to 6% by county) than in any other areas of the world with some village rates as high as 15%. Risk factors identified for AE cases included ethnicity, sex, age and occupation. The role of the dog in transmission of Echinococcus multilocularis to humans now appears to be significant and may be one of the most important risk factor, in combination with landscape/land-use features conducive to maintaining wildlife host populations. PMID:16338167

  16. CT diagnosis of pulmonary alveolar microlithiasis

    International Nuclear Information System (INIS)

    Purpose: To study the CT findings and evaluate the value of CT in the diagnosis of pulmonary alveolar microlithiasis (PAM). Methods: The CT findings of 9 cases of PAM proved by lung biopsy or clinical diagnosis were retrospectively analysed. Results: On conventional CT, pulmonary window revealed widespread intraalveolar calcifications of both lungs concentrating in the subpleural parenchyma of the middle and lower lobes. The CT value of microliths ranged from 200 to 400 HU, usually combined with pulmonary emphysema and interstitial fibrosis; Mediastinal window showed linear calcifications along pleura or scattered punctate calcifications in the concentrated area of microliths looking like flame or white line in the medial border. On HRCT, pulmonary window revealed diffuse ground-glass appearance, nodules of different sizes, more microliths along the bronchovesicular bundles and thickening of lobule septa. Conclusion: CT, especially HRCT, can better demonstrate pathological features and stage of PAM, playing an important role in diagnosis and differential diagnosis

  17. Computed tomographic appearances of pulmonary alveolar proteinosis

    International Nuclear Information System (INIS)

    We evaluated longitudinal changes in chest CT images in six cases (5 males and one female, age: 35-57 yr) of pulmonary alveolar proteinosis treated with bronchopulmonary lavage. Chest CT images on admission showed a mixed pattern of air-space consolidation and reticular or reticulonodular shadows in most cases and showed a peripheral clear zone in all cases. These shadows gradually diminished after bronchopulmonary lavage. Some cases revealed early improvement in the hilar zone while others had equal improvement in all lung lesions. In one case, consolidation was changed into reticular shadows by treatment. Previous reports have indicated that 'interstitial shadows which disappeared with lavage' reflect edematous thickening of interlobular septa. However, our longitudinal evaluation suggests that interstitial shadows on CT images may reflect not only real interstitial infiltration but also inhomogeneous distribution of intralobular deposits. (author)

  18. Computed tomographic appearances of pulmonary alveolar proteinosis

    Energy Technology Data Exchange (ETDEWEB)

    Takiguchi, Yasuo; Uchiyama, Takashi; Nagao, Keiichi; Kuriyama, Takayuki (Chiba Univ. (Japan). School of Medicine); Fujita, Akira; Hashizume, Ikko

    1994-03-01

    We evaluated longitudinal changes in chest CT images in six cases (5 males and one female, age: 35-57 yr) of pulmonary alveolar proteinosis treated with bronchopulmonary lavage. Chest CT images on admission showed a mixed pattern of air-space consolidation and reticular or reticulonodular shadows in most cases and showed a peripheral clear zone in all cases. These shadows gradually diminished after bronchopulmonary lavage. Some cases revealed early improvement in the hilar zone while others had equal improvement in all lung lesions. In one case, consolidation was changed into reticular shadows by treatment. Previous reports have indicated that 'interstitial shadows which disappeared with lavage' reflect edematous thickening of interlobular septa. However, our longitudinal evaluation suggests that interstitial shadows on CT images may reflect not only real interstitial infiltration but also inhomogeneous distribution of intralobular deposits. (author).

  19. Slope wavenumber spectrum models of capillary and capillary-gravity waves

    Institute of Scientific and Technical Information of China (English)

    贾永君; 张杰; 王岩峰

    2010-01-01

    Capillary and capillary-gravity waves possess a random character, and the slope wavenumber spectra of them can be used to represent mean distributions of wave energy with respect to spatial scale of variability. But simple and practical models of the slope wavenumber spectra have not been put forward so far. In this article, we address the accurate definition of the slope wavenumber spectra of water surface capillary and capillary-gravity waves. By combining the existing slope wavenumber models and using th...

  20. Crazy paving radiography finding in asymptomatic pulmonary alveolar proteinosis.

    Science.gov (United States)

    Choi, Young Rak; Chang, You-Jin; Kim, Si Wook; Choe, Kang Hyeon; Lee, Ki Man; An, Jin-Young

    2015-06-01

    Pulmonary alveolar proteinosis is a rare disorder characterized by alveolar accumulation of surfactant phospholipids and protein components. The symptoms and prognosis are extremely variable. Bronchoalveolar lavage fluid and/or transbronchial lung biopsy are useful for diagnosis; surgical lung biopsy is often unnecessary but useful in the focal involvement. We report a case of pulmonary alveolar proteinosis in a 50-year-old woman, confirmed by a video-assisted thoracoscopic surgery biopsy from the initial focal involvement, with normal bronchoalveolar lavage and transbronchial lung biopsy findings. PMID:25182335

  1. Upper Alveolar Ridge in Edentulous Patients and Caldwell Luc Surgery

    OpenAIRE

    Ashok Murthy, V.; Mahendra Kumar, R.

    2012-01-01

    The aim of this study is to understand the upper alveolar ridge changes and its impact on Caldwell Luc surgery, in a patient papulation from a Medical College Hospital. We undertook a study to measure the thickness of upper alveolar ridge in edentulous and edentulous patients, to know the difference between the two and its effects on Caldwell Luc surgery. The finding of the study led us to conclude that the upper alveolar ridge is quite thin in edentulous patients and requires care while scra...

  2. Electromigration dispersion in Capillary Electrophoresis

    CERN Document Server

    Chen, Zhen; 10.1007/s11538-011-9708-7

    2012-01-01

    In a previous paper (S. Ghosal and Z. Chen Bull. Math. Biol. 2010, vol. 72, pg. 2047) it was shown that the evolution of the solute concentration in capillary electrophoresis is described by a nonlinear wave equation that reduced to Burger's equation if the nonlinearity was weak. It was assumed that only strong electrolytes (fully dissociated) were present. In the present paper it is shown that the same governing equation also describes the situation where the electrolytic buffer consists of a single weak acid (or base). A simple approximate formula is derived for the dimensionless peak variance which is shown to agree well with published experimental data.

  3. Microbeam-coupled capillary electrophoresis

    International Nuclear Information System (INIS)

    Within the first few microseconds following a charged particle traversal of a cell, numerous oxygen and nitrogen radicals are formed along the track. Presented here is a method, using capillary electrophoresis, for simultaneous measurement, within an individual cell, of specific reactive oxygen species, such as the superoxide radical (O2-*) as well as the native and oxidised forms of glutathione, an ubiquitous anti-oxidant that assists the cell in coping with these species. Preliminary data are presented as well as plans for integrating this system into the charged particle microbeam at Columbia University. (authors)

  4. Capillary electrophoresis theory and practice

    CERN Document Server

    Grossman, Paul D

    1992-01-01

    This book is designed to be a practical guide, used by wide audience, including those new to CE, those more experienced, routine users, those interested in technology development, and those involved with applications research. References have been emphasized to allow the reader to explore the detailed specifics and theoretical foundations.This book draws together the rapidly evolving, diverse, and multidisciplinary subject of capillary electrophoresis (CE). It is designed as a practical guide to be used by a wide audience, including those new to CE as well as more experienced users. T

  5. Exotic containers for capillary surfaces

    Science.gov (United States)

    Concus, Paul; Finn, Robert

    1991-01-01

    This paper discusses 'exotic' rotationally symmetric containers that admit an entire continuum of distinct equilibrium capillary free surfaces. The paper extends earlier work to a larger class of parameters and clarifies and simplifies the governing differential equations, while expressing them in a parametric form appropriate for numerical integration. A unified presentation suitable for both zero and nonzero gravity is given. Solutions for the container shapes are depicted graphically along with members of the free-surface continuum, and comments are given concerning possible physical experiments.

  6. Depletion of resident alveolar macrophages does not prevent Fas-mediated lung injury in mice

    OpenAIRE

    Bem, R. A.; Farnand, A. W.; Wong, V; Koski, A; Rosenfeld, M. E.; Van Rooijen, N.; C. W. Frevert; Martin, T R; Matute-Bello, G.

    2008-01-01

    Activation of the Fas/Fas ligand (FasL) system in the lungs results in a form of injury characterized by alveolar epithelial apoptosis and neutrophilic inflammation. Studies in vitro show that Fas activation induces apoptosis in alveolar epithelial cells and cytokine production in alveolar macrophages. The main goal of this study was to determine the contribution of alveolar macrophages to Fas-induced lung inflammation in mice, by depleting alveolar macrophages using clodronate-containing lip...

  7. CFTR is required for maximal transepithelial liquid transport in pig alveolar epithelia

    OpenAIRE

    Li, Xiaopeng; Comellas, Alejandro P.; Karp, Philip H.; Ernst, Sarah E.; Moninger, Thomas O.; Gansemer, Nicholas D.; Taft, Peter J.; Pezzulo, Alejandro A; Michael V Rector; Rossen, Nathan; Stoltz, David A.; McCray, Paul B.; Welsh, Michael J.; Zabner, Joseph

    2012-01-01

    A balance between alveolar liquid absorption and secretion is critical for maintaining optimal alveolar subphase liquid height and facilitating gas exchange in the alveolar space. However, the role of cystic fibrosis transmembrane regulator protein (CFTR) in this homeostatic process has remained elusive. Using a newly developed porcine model of cystic fibrosis, in which CFTR is absent, we investigated ion transport properties and alveolar liquid transport in isolated type II alveolar epitheli...

  8. Autoimmune pulmonary alveolar proteinosis co-existing with breast cancer: a case report

    OpenAIRE

    Sawai, Toyomitsu; Umeyama, Yasuhiro; Yoshioka, Sumako; Matsuo, Nobuko; Suyama, Naofumi; Kohno, Shigeru

    2014-01-01

    Introduction Pulmonary alveolar proteinosis is a rare pulmonary disease characterized by excessive alveolar accumulation of surfactant due to defective alveolar clearance by macrophages. There are only a few published case reports of pulmonary alveolar proteinosis occurring in association with solid cancers. To the best of our knowledge, there are no previously reported cases of pulmonary alveolar proteinosis associated with breast cancer. Case presentation A 48-year-old Asian woman, a nonsmo...

  9. Alveolar proteinosis in Behçet's disease

    Directory of Open Access Journals (Sweden)

    Tetikkurt Cuneyt

    2010-08-01

    Full Text Available Abstract A 51-year-old man with Behçet's disease complained of fever, dry cough and dyspnea during exertion. Chest CT showed ground glass opacities with interstitial septal thickening in both lungs. Bronchoalveolar lavage (BAL revealed amorphous and lipoproteinaceous material that was periodic acid-Schiff (PAS stain positive. Transbronchial biopsy specimen demonstrated PAS positive alveolar eosinophilic material consistent with pulmonary alveolar proteinosis. Serum anti-granulocyte-macrophage colony stimulating factor (GM-CSF antibody was negative. Recent studies have reported anti-GMCSF not present in the the serum of patients with secondary pulmonary alveolar proteinosis (PAP but they have not reported so in patients with idiopathic PAP. We report a case of alveolar proteinosis in the setting of Behçet's disease with spontaneous remission.

  10. Alveolar proteinosis lung lavage using partial cardiopulmonary bypass.

    OpenAIRE

    Freedman, A P; Pelias, A; Johnston, R F; Goel, I P; Hakki, H I; Oslick, T; Shinnick, J P

    1981-01-01

    An adult case of pulmonary alveolar proteinosis presented with an arterial oxygen tension of 27 mmHg (3.6 kPa) while breathing air. Dangerous hypoxaemia during lung lavage was avoided by using partial cardiopulmonary bypass.

  11. Pulmonary Alveolar Proteinosis: A Rare Cause of Respiratory Failure.

    Science.gov (United States)

    Munir, Zeeshan; Khosa, Muhammad Zeeshan; Qazi, Muhammad Yaqoob

    2015-07-01

    Pulmonary Alveolar Proteinosis (PAP) is a rare syndrome in the paediatric age group and characterized by intra-alveolar accumulation of proteinaceous phospholipid-laden material called surfactant. The diagnosis is made by High Resolution Computed Tomography (HRCT) chest which shows characteristic crazy paving appearance and diagnosis confirmed by Bronchoalveolar Lavage (BAL). We report two cases. First was a 9-month old infant who presented with respiratory distress and peripheral cyanosis since birth. He was diagnosed on High Resolution Computed Tomography (HRCT) chest as a case of pulmonary alveolar proteinosis and broncho-alveolar lavage confirmed his diagnosis. Second case was a 10-year old female child who had a history of repeated chest infections for 5 years and now presented with cough and respiratory distress for 45 days. She was also diagnosed on HRCT chest but unfortunately she died before bronchoalveolar lavage. PMID:26208564

  12. The role of synthetic biomaterials in resorptive alveolar bone regeneration

    Directory of Open Access Journals (Sweden)

    Kaličanin Biljana M.

    2007-01-01

    Full Text Available The alveolar bone tissue resorption defect has a significant role in dentistry. Because of the bone tissue deficit developed by alveolar resorption, the use of synthetic material CP/PLGA (calcium-phosphate/polylactide-co-gliycolide composite was introduced. Investigations were performed on rats with artificially produced resorption of the mandibular bone. The results show that the best effect on alveolar bone were attained by using nano-composite implants. The effect of the nanocomposite was ascertained by determining the calcium and phosphate content, as a basis of the hydroxyapatite structure. The results show that synthetic CP/PLGA nanocomposite alleviate the rehabilitation of weakened alveolar bone. Due to its osteoconductive effect, CP/PLGA can be the material of choice for bone substitution in the future.

  13. Sheathless interface for coupling capillary electrophoresis with mass spectrometry

    Science.gov (United States)

    Wang, Chenchen; Tang, Keqi; Smith, Richard D.

    2014-06-17

    A sheathless interface for coupling capillary electrophoresis (CE) with mass spectrometry is disclosed. The sheathless interface includes a separation capillary for performing CE separation and an emitter capillary for electrospray ionization. A portion of the emitter capillary is porous or, alternatively, is coated to form an electrically conductive surface. A section of the emitter capillary is disposed within the separation capillary, forming a joint. A metal tube, containing a conductive liquid, encloses the joint.

  14. Diagnostics of a high current capillary discharge

    International Nuclear Information System (INIS)

    We have demonstrated that thin (10 to 25 μm diameter) capillaries can be fabricated in suitably configured insulators for use in pulse power machines. Large currents can be used to heat these capillaries which produce photons with an energies greater than 1 keV

  15. Alveolar lymphangioma in infants: report of two cases.

    LENUS (Irish Health Repository)

    FitzGerald, Kirsten

    2009-06-01

    The alveolar lymphangioma is a benign but relatively rare condition found only in the oral cavities of black infants. Dentists practising in Ireland may be unaware of this condition due to its racial specificity. This paper presents two case reports of multiple alveolar lymphangiomas found in black infants in a children\\'s hospital in Ireland. The epidemiology, aetiology, clinical presentation, histology, and management options are discussed. The photographs should aid the practitioner in recognising these lesions.

  16. Alveolar lymphangioma in infants: report of two cases.

    LENUS (Irish Health Repository)

    FitzGerald, Kirsten

    2012-02-01

    The alveolar lymphangioma is a benign but relatively rare condition found only in the oral cavities of black infants. Dentists practising in Ireland may be unaware of this condition due to its racial specificity. This paper presents two case reports of multiple alveolar lymphangiomas found in black infants in a children\\'s hospital in Ireland. The epidemiology, aetiology, clinical presentation, histology, and management options are discussed. The photographs should aid the practitioner in recognising these lesions.

  17. Dynamics of surfactant release in alveolar type II cells

    OpenAIRE

    Haller, Thomas; Ortmayr, Jörg; Friedrich, Franz; Völkl, Harald; Dietl, Paul

    1998-01-01

    Pulmonary surfactant, secreted via exocytosis of lamellar bodies (LB) by alveolar type II (AT II) cells, maintains low alveolar surface tension and is therefore essential for normal lung function. Here we describe real-time monitoring of exocytotic activity in these cells by visualizing and quantifying LB fusion with the plasma membrane (PM). Two approaches were used. First, fluorescence of LysoTracker Green DND-26 (LTG) in LB disappeared when the dye was released after exocytosis. Second, ph...

  18. Identification of a cell membrane protein that binds alveolar surfactant.

    OpenAIRE

    Strayer, D. S.

    1991-01-01

    Alveolar surfactants are complex mixtures of proteins and phospholipids produced by type II alveolar cells and responsible for lowering pulmonary surface tension. The process by which surfactant is produced and exported and by which its production by pulmonary cells is regulated are not well understood. This study was designed to identify a cellular receptor for surfactant constituents. To do so, monoclonal anti-idiotypic antibodies directed against antibodies to porcine and rabbit surfactant...

  19. Dynamic thermal performance of alveolar brick construction system

    International Nuclear Information System (INIS)

    Highlights: → Even though U-value does not measure thermal inertia, it is the commonly used parameter. → The thermal performance analysis of buildings must include the evaluation of transient parameters. → Transient parameters of alveolar brick constructive system show good agreement with its low energy consumption. -- Abstract: Alveolar bricks are being introduced in building sector due to the simplicity of their construction system and to the elimination of the insulation material. Nevertheless, it is not clear if this new system is energetically efficient and which is its thermal behaviour. This paper presents an experimental and theoretical study to evaluate the thermal behaviour of the alveolar brick construction system, compared with a traditional Mediterranean brick system with insulation. The experimental study consists of measuring the thermal performance of four real house-like cubicles. The thermal transmittance in steady-state, also known as U-value, is calculated theoretically and experimentally for each cubicle, presenting the insulated cubicles as the best construction system, with differences around 45% in comparison to the alveolar one. On the other hand, experimental results show significantly smaller differences on the energy consumption between the alveolar and insulated construction systems during summer period (around 13% higher for the alveolar cubicle). These values demonstrate the high thermal efficiency of the alveolar system. In addition, the lack of agreement between the measured energy consumption and the calculated U-values, guides the authors to analyze the thermal inertia of the different building components. Therefore, several transient parameters, extracted from the heat transfer matrix and from experimental data, are also evaluated. It can be concluded that the alveolar brick construction system presents higher thermal inertia than the insulated one, justifying the low measured energy consumption.

  20. Effect of growth hormone on human alveolar macrophage oxidative metabolism

    OpenAIRE

    Keane, M. P.; Coakley, R.; COSTELLO, R; O'Neill, S. J.

    1997-01-01

    BACKGROUND: Growth hormone (GH) has diverse immunological actions and has been shown to augment oxidative metabolism in rat peritoneal and porcine alveolar macrophages and both human and animal neutrophils. A study was performed to determine the effects of GH on human alveolar macrophages in vitro. METHODS: Macrophages were harvested from 10 patients undergoing bronchoalveolar lavage and incubated with 0, 10 and 100 nmol/ml GH for four hours. Oxidative metabolism was assessed by means o...

  1. Is alveolar cleft reconstruction still controversial? (Review of literature)

    OpenAIRE

    Seifeldin, Sameh A.

    2015-01-01

    Cleft lip and palate (CL/P) is a frequent congenital malformation that manifests in several varieties including unilateral or bilateral and complete or incomplete. Alveolar cleft reconstruction remains controversial with regard to timing, graft materials, surgical techniques, and methods of evaluation. Many studies have been conducted addressing these points to develop an acceptable universal protocol for managing CL/P. The primary goal of alveolar cleft reconstruction in CL/P patients is to ...

  2. Familial occurrence of pulmonary alveolar microlithiasis in 3-siblings

    International Nuclear Information System (INIS)

    Pulmonary alveolar microlithiasis (PAM) is a rare disease of unknown etiology characterized by intra-alveolar calcium deposits. More than 500 cases were reported in the literature. The disorder affects people at every age beginning from the early childhood. It occurs probably as a result of autosomal recessive transmission. Familial occurrence is often found with family history of the disease being present in up to 50% of the reported cases. We report PAM in 3 siblings. (author)

  3. Alveolar proteinosis in Behçet's disease

    OpenAIRE

    Tetikkurt Cuneyt; Tetikkurt Seza; Ozdemir Imran; Zuhur Cigdem; Bayar Nihal

    2010-01-01

    Abstract A 51-year-old man with Behçet's disease complained of fever, dry cough and dyspnea during exertion. Chest CT showed ground glass opacities with interstitial septal thickening in both lungs. Bronchoalveolar lavage (BAL) revealed amorphous and lipoproteinaceous material that was periodic acid-Schiff (PAS) stain positive. Transbronchial biopsy specimen demonstrated PAS positive alveolar eosinophilic material consistent with pulmonary alveolar proteinosis. Serum anti-granulocyte-macropha...

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

    Directory of Open Access Journals (Sweden)

    Dixit R

    1998-01-01

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

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

    OpenAIRE

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

    1989-01-01

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

  6. Spontaneous monokine release by alveolar macrophages in chronic sarcoidosis

    OpenAIRE

    Strausz, J; Männel, Daniela N.; S. Pfeifer; A. Borkowski; Ferlinz, R.; Müller-Quernheim, J.

    1991-01-01

    In pulmonary sarcoidosis an activation of alveolar T lymphocytes and alveolar macrophages (AM) has been demonstrated. There is evidence that in contrast to acute disease a heightened T-cell response cannot be observed in the chronic phase of sarcoidosis. The role of AM in the inflammatory process of chronic sarcoidosis is not yet intensively evaluated. To address this question we measured the release of tumor necrosis factor alpha (TNF alpha) and interleukin-1 (IL-1) by AM of 39 patients with...

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

    Institute of Scientific and Technical Information of China (English)

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

    2012-01-01

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

  8. Experimental radiation pneumonitis: changes in physiology of the alveolar surface

    International Nuclear Information System (INIS)

    Mice received 2400 rads in two fractions to the thorax; 4 months later at a time when deaths began, mechanical and biochemical properties of the lungs were studied and compared to those of littermate controls. The principal mechanical change was a large increase in the elastance of the alveolar surface element and abnormal surface tension properties of the AF. Alveolar fluid phospholipid content and saturation were only minimally changed; however the alveolar fluid contained a large excess of protein, possible of circulatory origin. The latter may explain the fall in compliance of the alveolar surface and hence of the lung in radiation pneumoritis. A small increase in elastance of the lung tissue element was also found; this correlated with a decrease in lung volume and a small increase in lung hydroxyproline content. These changes may signify the early development of radiation fibrosis. Other features of this model are the frequent occurrence of pleural effusions and the presence of increased numbers of alveolar macrophages in the alveolar lavage

  9. Horizontal alveolar bone loss: A periodontal orphan

    Directory of Open Access Journals (Sweden)

    Jayakumar A

    2010-01-01

    Full Text Available Background: Attempts to successfully regenerate lost alveolar bone have always been a clinician′s dream. Angular defects, at least, have a fairer chance, but the same cannot be said about horizontal bone loss. The purpose of the present study was to evaluate the prevalence of horizontal alveolar bone loss and vertical bone defects in periodontal patients; and later, to correlate it with the treatment modalities available in the literature for horizontal and vertical bone defects. Materials and Methods: The study was conducted in two parts. Part I was the radiographic evaluation of 150 orthopantomographs (OPGs (of patients diagnosed with chronic periodontitis and seeking periodontal care, which were digitized and read using the AutoCAD 2006 software. All the periodontitis-affected teeth were categorized as teeth with vertical defects (if the defect angle was ≤45° and defect depth was ≥3 mm or as having horizontal bone loss. Part II of the study comprised search of the literature on treatment modalities for horizontal and vertical bone loss in four selected periodontal journals. Results: Out of the 150 OPGs studied, 54 (36% OPGs showed one or more vertical defects. Totally, 3,371 teeth were studied, out of which horizontal bone loss was found in 3,107 (92.2% teeth, and vertical defects were found only in 264 (7.8% of the teeth, which was statistically significant (P<.001. Search of the selected journals revealed 477 papers have addressed the treatment modalities for vertical and horizontal types of bone loss specifically. Out of the 477 papers, 461 (96.3% have addressed vertical bone loss, and 18 (3.7% have addressed treatment options for horizontal bone loss. Two papers have addressed both types of bone loss and are included in both categories. Conclusion: Horizontal bone loss is more prevalent than vertical bone loss but has been sidelined by researchers as very few papers have been published on the subject of regenerative treatment

  10. Bayesian inference of the lung alveolar spatial model for the identification of alveolar mechanics associated with acute respiratory distress syndrome

    Science.gov (United States)

    Christley, Scott; Emr, Bryanna; Ghosh, Auyon; Satalin, Josh; Gatto, Louis; Vodovotz, Yoram; Nieman, Gary F.; An, Gary

    2013-06-01

    Acute respiratory distress syndrome (ARDS) is acute lung failure secondary to severe systemic inflammation, resulting in a derangement of alveolar mechanics (i.e. the dynamic change in alveolar size and shape during tidal ventilation), leading to alveolar instability that can cause further damage to the pulmonary parenchyma. Mechanical ventilation is a mainstay in the treatment of ARDS, but may induce mechano-physical stresses on unstable alveoli, which can paradoxically propagate the cellular and molecular processes exacerbating ARDS pathology. This phenomenon is called ventilator induced lung injury (VILI), and plays a significant role in morbidity and mortality associated with ARDS. In order to identify optimal ventilation strategies to limit VILI and treat ARDS, it is necessary to understand the complex interplay between biological and physical mechanisms of VILI, first at the alveolar level, and then in aggregate at the whole-lung level. Since there is no current consensus about the underlying dynamics of alveolar mechanics, as an initial step we investigate the ventilatory dynamics of an alveolar sac (AS) with the lung alveolar spatial model (LASM), a 3D spatial biomechanical representation of the AS and its interaction with airflow pressure and the surface tension effects of pulmonary surfactant. We use the LASM to identify the mechanical ramifications of alveolar dynamics associated with ARDS. Using graphical processing unit parallel algorithms, we perform Bayesian inference on the model parameters using experimental data from rat lung under control and Tween-induced ARDS conditions. Our results provide two plausible models that recapitulate two fundamental hypotheses about volume change at the alveolar level: (1) increase in alveolar size through isotropic volume change, or (2) minimal change in AS radius with primary expansion of the mouth of the AS, with the implication that the majority of change in lung volume during the respiratory cycle occurs in the

  11. Bayesian inference of the lung alveolar spatial model for the identification of alveolar mechanics associated with acute respiratory distress syndrome

    International Nuclear Information System (INIS)

    Acute respiratory distress syndrome (ARDS) is acute lung failure secondary to severe systemic inflammation, resulting in a derangement of alveolar mechanics (i.e. the dynamic change in alveolar size and shape during tidal ventilation), leading to alveolar instability that can cause further damage to the pulmonary parenchyma. Mechanical ventilation is a mainstay in the treatment of ARDS, but may induce mechano-physical stresses on unstable alveoli, which can paradoxically propagate the cellular and molecular processes exacerbating ARDS pathology. This phenomenon is called ventilator induced lung injury (VILI), and plays a significant role in morbidity and mortality associated with ARDS. In order to identify optimal ventilation strategies to limit VILI and treat ARDS, it is necessary to understand the complex interplay between biological and physical mechanisms of VILI, first at the alveolar level, and then in aggregate at the whole-lung level. Since there is no current consensus about the underlying dynamics of alveolar mechanics, as an initial step we investigate the ventilatory dynamics of an alveolar sac (AS) with the lung alveolar spatial model (LASM), a 3D spatial biomechanical representation of the AS and its interaction with airflow pressure and the surface tension effects of pulmonary surfactant. We use the LASM to identify the mechanical ramifications of alveolar dynamics associated with ARDS. Using graphical processing unit parallel algorithms, we perform Bayesian inference on the model parameters using experimental data from rat lung under control and Tween-induced ARDS conditions. Our results provide two plausible models that recapitulate two fundamental hypotheses about volume change at the alveolar level: (1) increase in alveolar size through isotropic volume change, or (2) minimal change in AS radius with primary expansion of the mouth of the AS, with the implication that the majority of change in lung volume during the respiratory cycle occurs in the

  12. Lung vasculitis and alveolar hemorrhage: pathology.

    Science.gov (United States)

    Fishbein, Gregory A; Fishbein, Michael C

    2011-06-01

    Pulmonary vasculitides are a diverse group of limited and systemic disorders associated with inflammation of pulmonary vessels and parenchyma. These diseases often have distinctive clinical, serological, and histopathological features-extrapulmonary sites of involvement, circulating autoantibodies, predispositions for small or large vessels, and others. Some have characteristic inflammatory lesions; others are characterized by the absence of such lesions. Frequently pathological findings overlap, rendering classification, and diagnosis a challenge. The anti-neutrophil cytoplasmic antibody (ANCA)-associated small-vessel diseases constitute the major pulmonary vasculitides. These include Wegener granulomatosis (WG), Churg Strauss syndrome (CSS), and microscopic polyangiitis (MPA). Less frequently, diseases such as polyarteritis nodosa, Takayasu arteritis, Behçet syndrome, and connective tissue diseases may involve pulmonary vessels, but these entities are better associated with extrapulmonary disease. Diffuse alveolar hemorrhage (DAH) is a severe manifestation of pulmonary vasculitis. DAH is most commonly seen in small-vessel vasculitides, specifically MPA and WG. Other syndromes associated with DAH include Goodpasture syndrome, Henoch-Schönlein purpura, and systemic lupus erythematosus. Less commonly, DAH may be secondary to infection or drugs/toxins. Furthermore, in the absence of discernable systemic disease, DAH may be idiopathic-referred to as isolated pulmonary capillaritis (IPC) or idiopathic pulmonary hemosiderosis (IPH), depending on the presence of capillaritis. PMID:21674412

  13. Cardiovascular risk in pulmonary alveolar proteinosis.

    Science.gov (United States)

    Manali, Effrosyni D; Papadaki, Georgia; Konstantonis, Dimitrios; Tsangaris, Iraklis; Papaioannou, Andriana I; Kolilekas, Likurgos; Schams, Andrea; Kagouridis, Konstantinos; Karakatsani, Anna; Orfanos, Stylianos; Griese, Matthias; Papiris, Spyros A

    2016-02-01

    We hypothesized that cardiovascular events and/or indices of cardiac dysfunction may be increased in pulmonary alveolar proteinosis (PAP). Systemic and pulmonary arterial hypertension, arrhythmias, pulmonary embolism, stroke and ischemic heart attack were reported. Patients underwent serum anti-GM-CSF antibodies, disease severity score (DSS), Doppler transthoracic echocardiograph, glucose, thyroid hormones, lipids, troponin and pro-Brain natriuretic peptide (BNP) examination. Thirteen patients (8 female) were studied, median age of 47. Pro-BNP inversely related to DLCO% and TLC%; troponin directly related to DSS, age, P(A-a)O2, left atrium-, left ventricle-end-diastole diameter and BMI. On multiple regression analysis DSS was the only parameter significantly and strongly related with troponin (R(2) = 0.776, p = 0.007). No cardiovascular event was reported during follow-up. In PAP cardiovascular risk indices relate to lung disease severity. Therefore, PAP patients could be at increased risk for cardiovascular events. Quantitation of its magnitude and potential links to lungs' physiologic derangement will be addressed in future studies. PMID:26558331

  14. Computed tomography of the alveolar bone

    International Nuclear Information System (INIS)

    In addition to the conventional radiological methods used in odontology, computed tomography (CT) provides superposition-free images of the mandible and maxilla. Its value has been proved not only in cases of malignancy but also in many other problems. If an examination is performed with a slice thickness of less than 1.5 mm, the form and position of retained teeth in the alveolar bone, as well as subsequent lesions of neighboring permanent teeth, can be visualized so that early treatment can be planned. If the parodontal space of a retained tooth is visible, orthodontic intervention is possible. Precise assessment of horizontal or vertical bone loss is essential in inflammatory dental diseases. The morphology and extent of benign cystic lesions are also shown by CT. With CT surgical strategy of an intended implant therapy can take into account the remaining bone substance and the exact position of nerves and foramina. If such therapy is possible, the location, form and number of implants are easily defined. (orig.)

  15. Capillary Discharge XUV Radiation Source

    Directory of Open Access Journals (Sweden)

    M. Nevrkla

    2009-01-01

    Full Text Available A device producing Z-pinching plasma as a source of XUV radiation is described. Here a ceramic capacitor bank pulse-charged up to 100 kV is discharged through a pre-ionized gas-filled ceramic tube 3.2 mm in diameter and 21 cm in length. The discharge current has amplitude of 20 kA and a rise-time of 65 ns. The apparatus will serve as experimental device for studying of capillary discharge plasma, for testing X-ray optics elements and for investigating the interaction of water-window radiation with biological samples. After optimization it will be able to produce 46.9 nm laser radiation with collision pumped Ne-like argon ions active medium. 

  16. Inositol-trisphosphate reduces alveolar apoptosis and pulmonary edema in neonatal lung injury.

    Science.gov (United States)

    Preuss, Stefanie; Stadelmann, Sabrina; Omam, Friede D; Scheiermann, Julia; Winoto-Morbach, Supandi; von Bismarck, Philipp; Knerlich-Lukoschus, Friederike; Lex, Dennis; Adam-Klages, Sabine; Wesch, Daniela; Held-Feindt, Janka; Uhlig, Stefan; Schütze, Stefan; Krause, Martin F

    2012-08-01

    D-myo-inositol-1,2,6-trisphosphate (IP3) is an isomer of the naturally occurring second messenger D-myo-inositol-1,4,5-trisphosphate, and exerts anti-inflammatory and antiedematous effects in the lung. Myo-inositol (Inos) is a component of IP3, and is thought to play an important role in the prevention of neonatal pulmonary diseases such as bronchopulmonary dysplasia and neonatal acute lung injury (nALI). Inflammatory lung diseases are characterized by augmented acid sphingomyelinase (aSMase) activity leading to ceramide production, a pathway that promotes increased vascular permeability, apoptosis, and surfactant alterations. A novel, clinically relevant triple-hit model of nALI was developed, consisting of repeated airway lavage, injurious ventilation, and lipopolysaccharide instillation into the airways, every 24 hours. Thirty-five piglets were randomized to one of four treatment protocols: control (no intervention), surfactant alone, surfactant + Inos, and surfactant + IP3. After 72 hours of mechanical ventilation, lungs were excised from the thorax for subsequent analyses. Clinically, oxygenation and ventilation improved, and extravascular lung water decreased significantly with the S + IP3 intervention. In pulmonary tissue, we observed decreased aSMase activity and ceramide concentrations, decreased caspase-8 concentrations, reduced alveolar epithelial apoptosis, the reduced expression of interleukin-6, transforming growth factor-β1, and amphiregulin (an epithelial growth factor), reduced migration of blood-borne cells and particularly of CD14(+)/18(+) cells (macrophages) into the airspaces, and lower surfactant surface tensions in S + IP3-treated but not in S + Inos-treated piglets. We conclude that the admixture of IP3 to surfactant, but not of Inos, improves gas exchange and edema in our nALI model by the suppression of the governing enzyme aSMase, and that this treatment deserves clinical evaluation. PMID:22403805

  17. Detection of alveolar epithelial injury by 99mTc-DTPA radioaerosol inhalation lung scan following blunt chest trauma

    International Nuclear Information System (INIS)

    DTPA clearance rate is a reliable index of alveolar epithelial permeability, and is a highly sensitive marker of pulmonary epithelial damage, even of mild degree. In this study, 99mTc-DTPA aerosol inhalation scintigraphy was used to assess the pulmonary epithelial membrane permeability and to investigate the possible application of this permeability value as an indicator of early alveolar or interstitial changes in patients with blunt chest trauma. A total of 26 patients was chest trauma (4 female, 22 male, 31-80 yrs, mean age; 53±13 yrs) who were referred to the emergency department in our hospital participated in this study. Technetium-99m diethylene triamine pentaacetic acid (DTPA) aerosol inhalation scintigraphy was performed on the first and thirtieth days after trauma. Clearance half times (T1/2) were calculated by placing a mono-exponential fit on the curves. Penetration index (PI) was calculated on the first-minute image. On the first day, mean T1/2 value of the whole lung was 63±19 minutes (min), and thirtieth day mean T1/2 value was 67±21 min. On the first day, mean PI values of the lung and 30th day mean PI value were 0.60±0.05, and 0.63 ±0.05, respectively. Significant changes were observed in radioaerosol clearance and penetration indices. Following chest trauma, clearance of 99mTc-DTPA increased owing to breakdown of the alveolar-capillary barrier. This increase in the epithelial permeability of the lung appears to be an early manifestation of lung disease that may lead to efficient therapy in the early phase. (author)

  18. Geometry of the capillary net in human hearts.

    Science.gov (United States)

    Rakusan, K; Cicutti, N; Spatenka, J; Samánek, M

    1997-01-01

    The geometry of the coronary capillary bed in human hearts was studied using samples obtained during cardiac surgery of children operated for tetralogy of Fallot and samples from fresh normal hearts used for valve harvesting. The results revealed a similar coronary capillary density and heterogeneity of capillary spacing in samples from both groups. A double-staining method was used to distinguish between capillary segments close to the feeding arteriole (proximal capillaries) and segments distant from the arteriole (distal capillaries). In both groups of hearts, capillary segment length was consistently shorter on the venular than the arteriolar portion of the capillary. Similarly, capillary domain areas were also smaller and the resulting capillary supply unit was smaller along venular portions compared to arteriolar regions of the capillary bed. This distinctive geometry would provide advantageous geometric conditions for tissue oxygen supply. PMID:9176723

  19. Influence of anaesthesia on canine hip dysplasia score.

    Science.gov (United States)

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

    2006-10-01

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

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

    Science.gov (United States)

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

    2006-01-01

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